DISEASES
VARIANTS
NM_000350.3:c.6449G>A, NM_000350.3:c.6394G>T, NM_000350.3:c.6320G>A, NM_000350.3:c.6179T>G, NM_000350.3:c.6148G>C, NM_000350.3:c.6118C>T, NM_000350.3:c.6089G>A, NM_000350.3:c.5912T>G, NM_000350.3:c.5882G>A, NM_000350.3:c.5881G>A, NM_000350.3:c.5819T>C, NM_000350.3:c.5714+5G>A, NM_000350.3:c.5512delC, NM_000350.3:c.5461-10T>C, NM_000350.3:c.5338C>G, NM_000350.3:c.4793C>A, NM_000350.3:c.4469G>A, NM_000350.3:c.4457C>T, NM_000350.3:c.4429C>T, NM_000350.3:c.4139C>T, NM_000350.3:c.3540_3555delGTCTAAGGGTTTCTCC, NM_000350.3:c.3364G>A, NM_000350.3:c.3322C>T, NM_000350.3:c.3210_3211dupGT, NM_000350.3:c.3106G>A, NM_000350.3:c.3083C>T, NM_000350.3:c.2971G>C, NM_000350.3:c.2791G>A, NM_000350.3:c.2690C>T, NM_000350.3:c.2616_2617delCT, NM_000350.3:c.2588G>C, NM_000350.3:c.2300T>A, NM_000350.3:c.2160+1G>T, NM_000350.3:c.1964T>G, NM_000350.3:c.1938-1G>A, NM_000350.3:c.1848delA, NM_000350.3:c.1804C>T, NM_000350.3:c.1771delT, NM_000350.3:c.1755delA, NM_000350.3:c.1715G>A, NM_000350.3:c.1622T>C, NM_000350.3:c.1225delA, NM_000350.3:c.1222C>T, NM_000350.3:c.1018T>G, NM_000350.3:c.763C>T, NM_000350.3:c.661G>A, NM_000350.3:c.634C>T, NM_000350.3:c.286A>G, NM_000350.3:c.67-2A>G, NM_000350.3:c.52C>T
DISEASES
VARIANTS
NM_014049.5:c.23delT, NM_014049.5:c.130T>A, NM_014049.5:c.358delT, NM_014049.5:c.453+1G>A, NM_014049.5:c.797G>A, NM_014049.5:c.976G>C, NM_014049.5:c.1240C>T, NM_014049.5:c.1249C>T, NM_014049.5:c.1594C>T
DISEASES
VARIANTS
NM_000016.6:c.127G>A, NM_000016.6:c.250C>T, NM_000016.6:c.287-2A>G, NM_000016.6:c.362C>T, NM_000016.6:c.446_449delTGAC, NM_000016.6:c.447G>A, NM_000016.6:c.447G>T, NM_000016.6:c.616C>T, NM_000016.6:c.617G>A, NM_000016.6:c.683C>A, NM_000016.6:c.734C>T, NM_000016.6:c.797A>G, NM_000016.6:c.799G>A, NM_000016.6:c.815_827delTTGCAATGGGAGC, NM_000016.6:c.890A>G, NM_000016.6:c.984delG, NM_000016.6:c.985A>G, NM_000016.6:c.1100_1103delAGTT
DISEASES
VARIANTS
NM_000017.4:c.136C>T, NM_000017.4:c.314T>A, NM_000017.4:c.319C>T, NM_000017.4:c.417G>C, NM_000017.4:c.529T>C, NM_000017.4:c.561_568delCAATGCCT, NM_000017.4:c.826G>A, NM_000017.4:c.1095G>T, NM_000017.4:c.1108A>G, NM_000017.4:c.1147C>T
DISEASES
VARIANTS
NM_001609.4:c.303+1G>A, NM_001609.4:c.443C>T, NM_001609.4:c.621G>A, NM_001609.4:c.763C>T, NM_001609.4:c.1159G>A
DISEASES
VARIANTS
NM_000018.4:c.278-1G>A, NM_000018.4:c.295_296delAC, NM_000018.4:c.343-1delG, NM_000018.4:c.400C>T, NM_000018.4:c.477+1G>C, NM_000018.4:c.520G>A, NM_000018.4:c.685C>T, NM_000018.4:c.739A>C, NM_000018.4:c.753-2A>C, NM_000018.4:c.848T>C, NM_000018.4:c.890_892delAGA, NM_000018.4:c.1096C>T, NM_000018.4:c.1097G>A, NM_000018.4:c.1106T>C, NM_000018.4:c.1139_1141delAGG, NM_000018.4:c.1182+1G>A, NM_000018.4:c.1357C>T, NM_000018.4:c.1360G>A, NM_000018.4:c.1373_1374insC, NM_000018.4:c.1385_1386insG, NM_000018.4:c.1406G>A, NM_000018.4:c.1468G>C, NM_000018.4:c.1532+1G>A, NM_000018.4:c.1837C>T, NM_000018.4:c.1843C>T, NM_000018.4:c.1844G>A, NM_000018.4:c.1882delC
DISEASES
VARIANTS
NM_000019.4:c.2T>A, NM_000019.4:c.409_416delTCTCAAAG, NM_000019.4:c.547G>A, NM_000019.4:c.622C>T, NM_000019.4:c.904delA, NM_000019.4:c.1031_1033delAAG, NM_000019.4:c.1082_1083insA, NM_000019.4:c.1136G>T, NM_000019.4:c.1138G>A
DISEASES
VARIANTS
NM_004035.7:c.832A>G, NM_004035.7:c.591delG, NM_004035.7:c.532G>T
DISEASES
VARIANTS
NM_000022.4:c.986C>T, NM_000022.4:c.956_960delAAGAG, NM_000022.4:c.890C>A, NM_000022.4:c.872C>T, NM_000022.4:c.632G>A, NM_000022.4:c.320T>C, NM_000022.4:c.247G>A, NM_000022.4:c.226C>T
DISEASES
VARIANTS
NM_014244.5:c.2384G>A
DISEASES
VARIANTS
NM_000027.4:c.904G>A, NM_000027.4:c.800dupT, NM_000027.4:c.755G>A, NM_000027.4:c.488G>C, NM_000027.4:c.302C>T, NM_000027.4:c.214T>C
DISEASES
VARIANTS
NM_000642.3:c.17_18delAG, NM_000642.3:c.16C>T, NM_000642.3:c.112A>G, NM_000642.3:c.294-2A>T, NM_000642.3:c.1222C>T, NM_000642.3:c.1481G>A, NM_000642.3:c.1485delT, NM_000642.3:c.1783C>T, NM_000642.3:c.1999delC, NM_000642.3:c.2039G>A, NM_000642.3:c.2590C>T, NM_000642.3:c.3214_3215delGA, NM_000642.3:c.3980G>A, NM_000642.3:c.4260-12A>G, NM_000642.3:c.4260-1G>T, NM_000642.3:c.4342G>C, NM_000642.3:c.4454delT, NM_000642.3:c.4528_4529insA
DISEASES
VARIANTS
NM_003659.4:c.926C>T, NM_003659.4:c.1256G>A, NM_003659.4:c.1406T>C, NM_003659.4:c.1703C>T
DISEASES
VARIANTS
NM_000030.3:c.25_26insC, NM_000030.3:c.32C>A, NM_000030.3:c.121G>A, NM_000030.3:c.166-2A>G, NM_000030.3:c.245G>A, NM_000030.3:c.248A>G, NM_000030.3:c.322T>C, NM_000030.3:c.454T>A, NM_000030.3:c.466G>A, NM_000030.3:c.508G>A, NM_000030.3:c.560C>T, NM_000030.3:c.590G>A, NM_000030.3:c.613T>C, NM_000030.3:c.697C>T, NM_000030.3:c.698G>A, NM_000030.3:c.731T>C, NM_000030.3:c.738G>A, NM_000030.3:c.836T>C, NM_000030.3:c.860G>A
DISEASES
VARIANTS
NM_000035.4:c.1067C>A, NM_000035.4:c.1027T>C, NM_000035.4:c.1013C>T, NM_000035.4:c.1005C>G, NM_000035.4:c.720C>A, NM_000035.4:c.612T>A, NM_000035.4:c.524C>A, NM_000035.4:c.448G>C, NM_000035.4:c.442T>C, NM_000035.4:c.360_363delCAAA, NM_000035.4:c.178C>T, NM_000035.4:c.136A>T, NM_000035.4:c.113-1_115delGGTA, NM_000035.4:c.10C>T, NM_000035.4:c.2T>C
DISEASES
VARIANTS
NM_013339.4:c.53G>A, NM_013339.4:c.316C>T, NM_013339.4:c.482A>G, NM_013339.4:c.495-3C>G, NM_013339.4:c.893_895delTAA, NM_013339.4:c.998C>T, NM_013339.4:c.1432T>C
DISEASES
VARIANTS
NM_001378454.1:c.888_904delTCAGCACCCGCTTATAG, NM_001378454.1:c.1571_1573delCTCinsT, NM_001378454.1:c.8161C>T, NM_001378454.1:c.8380C>T, NM_001378454.1:c.9908-1G>A, NM_001378454.1:c.10576_10577delAT, NM_001378454.1:c.10772delC, NM_001378454.1:c.11311_11314delAGAG, NM_001378454.1:c.11446C>T, NM_001378454.1:c.11448_11449insA, NM_001378454.1:c.11607_11608delCT, NM_001378454.1:c.11613_11614delCT, NM_001378454.1:c.12436C>T, NM_001378454.1:c.12442C>T
DISEASES
VARIANTS
NM_000478.6:c.98C>T, NM_000478.6:c.211C>T, NM_000478.6:c.212G>C, NM_000478.6:c.323C>T, NM_000478.6:c.346G>A, NM_000478.6:c.407G>A, NM_000478.6:c.526G>A, NM_000478.6:c.535G>A, NM_000478.6:c.571G>A, NM_000478.6:c.620A>C, NM_000478.6:c.814C>T, NM_000478.6:c.881A>C, NM_000478.6:c.892G>A, NM_000478.6:c.1001G>A, NM_000478.6:c.1133A>T, NM_000478.6:c.1250A>G, NM_000478.6:c.1306T>C, NM_000478.6:c.1366G>A, NM_000478.6:c.1574delG
DISEASES
VARIANTS
NM_000481.4:c.959G>A, NM_000481.4:c.826G>C, NM_000481.4:c.806G>A, NM_000481.4:c.574C>T, NM_000481.4:c.259-1G>C, NM_000481.4:c.139G>A, NM_000481.4:c.125A>G
DISEASES
VARIANTS
NM_000044.6:c.340C>T, NM_000044.6:c.1769-11T>A, NM_000044.6:c.1771A>T, NM_000044.6:c.1937C>A, NM_000044.6:c.2323C>T, NM_000044.6:c.2391G>A, NM_000044.6:c.2395C>G, NM_000044.6:c.2567G>A, NM_000044.6:c.2650A>T
DISEASES
VARIANTS
NM_000045.4:c.32T>C, NM_000045.4:c.61C>T, NM_000045.4:c.365G>A, NM_000045.4:c.413G>T, NM_000045.4:c.703G>C, NM_000045.4:c.869C>G, NM_000045.4:c.871C>T
DISEASES
VARIANTS
NM_000487.6:c.1408_1418delGCAGCTGTGAC, NM_000487.6:c.1401_1411delGTTAGACGCAG, NM_000487.6:c.1283C>T, NM_000487.6:c.1241delC, NM_000487.6:c.1232C>T, NM_000487.6:c.1210+1G>A, NM_000487.6:c.1175G>A, NM_000487.6:c.1174C>T, NM_000487.6:c.1150G>A, NM_000487.6:c.1125_1126delCT, NM_000487.6:c.1108-2A>G, NM_000487.6:c.991G>T, NM_000487.6:c.986C>T, NM_000487.6:c.979G>A, NM_000487.6:c.938G>A, NM_000487.6:c.937C>T, NM_000487.6:c.931G>A, NM_000487.6:c.899T>C, NM_000487.6:c.883G>A, NM_000487.6:c.869G>T, NM_000487.6:c.869G>A, NM_000487.6:c.854+1G>A, NM_000487.6:c.827C>T, NM_000487.6:c.763G>A, NM_000487.6:c.739G>A, NM_000487.6:c.737G>A, NM_000487.6:c.641C>T, NM_000487.6:c.583delT, NM_000487.6:c.582delC, NM_000487.6:c.542dupT, NM_000487.6:c.542T>G, NM_000487.6:c.465+1G>A, NM_000487.6:c.346C>T, NM_000487.6:c.302G>A, NM_000487.6:c.293C>T, NM_000487.6:c.257G>A, NM_000487.6:c.195delC, NM_000487.6:c.34delG
DISEASES
VARIANTS
NM_000046.5:c.1562G>A, NM_000046.5:c.1438dupG, NM_000046.5:c.1366C>T, NM_000046.5:c.1214G>A, NM_000046.5:c.1178A>C, NM_000046.5:c.1161dupC, NM_000046.5:c.1143-1G>C, NM_000046.5:c.1143-8T>G, NM_000046.5:c.979C>T, NM_000046.5:c.971G>T, NM_000046.5:c.944G>A, NM_000046.5:c.937C>G, NM_000046.5:c.921delA, NM_000046.5:c.753C>G, NM_000046.5:c.707T>C, NM_000046.5:c.629A>G, NM_000046.5:c.589C>T, NM_000046.5:c.571C>T, NM_000046.5:c.427delG, NM_000046.5:c.410G>T, NM_000046.5:c.389C>T, NM_000046.5:c.349T>C
DISEASES
VARIANTS
NM_000048.4:c.35G>A, NM_000048.4:c.337C>T, NM_000048.4:c.346C>T, NM_000048.4:c.392C>T, NM_000048.4:c.437G>A, NM_000048.4:c.446+1G>A, NM_000048.4:c.505T>C, NM_000048.4:c.525-2A>T, NM_000048.4:c.532G>A, NM_000048.4:c.539T>G, NM_000048.4:c.544C>T, NM_000048.4:c.557G>A, NM_000048.4:c.578G>A, NM_000048.4:c.602+1G>A, NM_000048.4:c.857A>G, NM_000048.4:c.925G>A, NM_000048.4:c.1043_1055delGCGTCATCTCTAC, NM_000048.4:c.1060C>T, NM_000048.4:c.1135C>T, NM_000048.4:c.1144-2A>G, NM_000048.4:c.1153C>T, NM_000048.4:c.1255_1256delCT, NM_000048.4:c.1366_1367insG, NM_000048.4:c.1366C>T
DISEASES
VARIANTS
NM_000049.4:c.212G>A, NM_000049.4:c.433-2A>G, NM_000049.4:c.654C>A, NM_000049.4:c.693C>A, NM_000049.4:c.838C>T, NM_000049.4:c.854A>C, NM_000049.4:c.863A>G, NM_000049.4:c.914C>A
DISEASES
VARIANTS
NM_054012.4:c.40G>A, NM_054012.4:c.53C>T, NM_054012.4:c.256C>T, NM_054012.4:c.257G>A, NM_054012.4:c.323G>T, NM_054012.4:c.349G>A, NM_054012.4:c.380G>A, NM_054012.4:c.421-2A>G, NM_054012.4:c.470G>A, NM_054012.4:c.496-2A>G, NM_054012.4:c.535T>C, NM_054012.4:c.539G>A, NM_054012.4:c.571G>A, NM_054012.4:c.787G>A, NM_054012.4:c.793C>T, NM_054012.4:c.794G>A, NM_054012.4:c.805G>A, NM_054012.4:c.814C>T, NM_054012.4:c.835C>T, NM_054012.4:c.836G>A, NM_054012.4:c.910C>T, NM_054012.4:c.919C>T, NM_054012.4:c.928A>C, NM_054012.4:c.970G>A, NM_054012.4:c.970+5G>A, NM_054012.4:c.1085G>T, NM_054012.4:c.1087C>T, NM_054012.4:c.1088G>A, NM_054012.4:c.1168G>A, NM_054012.4:c.1194-1G>C
DISEASES
VARIANTS
NM_000052.7:c.1639C>T, NM_000052.7:c.1972_1973insTGTT, NM_000052.7:c.2531G>A, NM_000052.7:c.2938C>T, NM_000052.7:c.2981C>T, NM_000052.7:c.3255_3256delAC, NM_000052.7:c.3294+2T>G, NM_000052.7:c.3911A>G, NM_000052.7:c.3914_3920delACTCCCC, NM_000052.7:c.3931A>G
DISEASES
VARIANTS
NM_000053.4:c.4301C>T, NM_000053.4:c.4135C>T, NM_000053.4:c.4088C>T, NM_000053.4:c.4058G>A, NM_000053.4:c.3990_3993delTTAT, NM_000053.4:c.3955C>T, NM_000053.4:c.3809A>G, NM_000053.4:c.3796G>A, NM_000053.4:c.3694A>C, NM_000053.4:c.3688A>G, NM_000053.4:c.3359T>A, NM_000053.4:c.3207C>A, NM_000053.4:c.3101A>G, NM_000053.4:c.3083delA, NM_000053.4:c.2975C>T, NM_000053.4:c.2972C>T, NM_000053.4:c.2930C>T, NM_000053.4:c.2906G>A, NM_000053.4:c.2807T>A, NM_000053.4:c.2804C>T, NM_000053.4:c.2795C>A, NM_000053.4:c.2762G>A, NM_000053.4:c.2755C>T, NM_000053.4:c.2755C>G, NM_000053.4:c.2621C>T, NM_000053.4:c.2605G>A, NM_000053.4:c.2532delA, NM_000053.4:c.2356-2A>G, NM_000053.4:c.2305A>G, NM_000053.4:c.2297C>G, NM_000053.4:c.2267C>T, NM_000053.4:c.2123T>C, NM_000053.4:c.2071G>A, NM_000053.4:c.1934T>G, NM_000053.4:c.1922T>C, NM_000053.4:c.1846C>T, NM_000053.4:c.1745_1746delTA, NM_000053.4:c.1512dupT, NM_000053.4:c.1285+5G>T, NM_000053.4:c.1145_1151delCCCAACT, NM_000053.4:c.915T>A, NM_000053.4:c.562C>T, NM_000053.4:c.98T>C, NM_000053.4:c.19_20delCA
DISEASES
VARIANTS
NM_000709.4:c.14delT, NM_000709.4:c.632C>T, NM_000709.4:c.659C>T, NM_000709.4:c.740_741insT, NM_000709.4:c.761C>A, NM_000709.4:c.796delA, NM_000709.4:c.853G>C, NM_000709.4:c.868G>A, NM_000709.4:c.906_907delTG, NM_000709.4:c.905A>C, NM_000709.4:c.917delT, NM_000709.4:c.929C>G, NM_000709.4:c.964C>T, NM_000709.4:c.979G>A, NM_000709.4:c.1036C>T, NM_000709.4:c.1037G>A, NM_000709.4:c.1234G>A
DISEASES
VARIANTS
NM_183050.4:c.302G>A, NM_183050.4:c.342T>G, NM_183050.4:c.344-1G>A, NM_183050.4:c.356T>G, NM_183050.4:c.479T>G, NM_183050.4:c.488A>T, NM_183050.4:c.508C>A, NM_183050.4:c.508C>G, NM_183050.4:c.508C>T, NM_183050.4:c.509G>A, NM_183050.4:c.526A>T, NM_183050.4:c.547C>T, NM_183050.4:c.548G>C, NM_183050.4:c.748G>T, NM_183050.4:c.752T>C, NM_183050.4:c.799C>T, NM_183050.4:c.832G>A, NM_183050.4:c.952-1G>A, NM_183050.4:c.970C>T, NM_183050.4:c.1046G>A, NM_183050.4:c.1114G>T
DISEASES
VARIANTS
NM_001079866.2:c.103G>C, NM_001079866.2:c.133C>T, NM_001079866.2:c.148A>G, NM_001079866.2:c.166C>T, NM_001079866.2:c.232A>G, NM_001079866.2:c.547C>T, NM_001079866.2:c.548G>A, NM_001079866.2:c.550C>T, NM_001079866.2:c.696delT, NM_001079866.2:c.830G>A, NM_001079866.2:c.1057G>A
DISEASES
VARIANTS
NM_032043.3:c.3209C>A, NM_032043.3:c.2990_2993delCAAA, NM_032043.3:c.2392C>T, NM_032043.3:c.2237_2240delTCAA, NM_032043.3:c.1702_1703delAA, NM_032043.3:c.1045G>C, NM_032043.3:c.502C>T, NM_032043.3:c.139C>G
DISEASES
VARIANTS
NM_057176.3:c.1A>T, NM_057176.3:c.3G>A, NM_057176.3:c.10G>T, NM_057176.3:c.22C>T, NM_057176.3:c.23G>A, NM_057176.3:c.23G>T, NM_057176.3:c.35T>C, NM_057176.3:c.139G>A
DISEASES
VARIANTS
NM_001370658.1:c.124G>A, NM_001370658.1:c.175C>T, NM_001370658.1:c.274G>C, NM_001370658.1:c.383G>A, NM_001370658.1:c.451G>A, NM_001370658.1:c.468G>T, NM_001370658.1:c.497G>A, NM_001370658.1:c.523A>G, NM_001370658.1:c.535G>A, NM_001370658.1:c.569A>G, NM_001370658.1:c.571C>T, NM_001370658.1:c.583C>T, NM_001370658.1:c.604G>A, NM_001370658.1:c.695A>G, NM_001370658.1:c.697C>T, NM_001370658.1:c.734A>T, NM_001370658.1:c.873delT, NM_001370658.1:c.908A>G, NM_001370658.1:c.1046C>T, NM_001370658.1:c.1260delG, NM_001370658.1:c.1279C>T, NM_001370658.1:c.1292G>A, NM_001370658.1:c.1308A>C, NM_001370658.1:c.1429C>T, NM_001370658.1:c.1447_1451delGGGAT, NM_001370658.1:c.1471C>G, NM_001370658.1:c.1535C>T, NM_001370658.1:c.1552C>T
DISEASES
VARIANTS
NM_000070.3:c.133G>A, NM_000070.3:c.220_221insT, NM_000070.3:c.246G>A, NM_000070.3:c.257C>T, NM_000070.3:c.328C>T, NM_000070.3:c.549delA, NM_000070.3:c.551C>T, NM_000070.3:c.580delT, NM_000070.3:c.597_611delGTTCTGGAGTGCTCT, NM_000070.3:c.662G>T, NM_000070.3:c.676G>A, NM_000070.3:c.853_854insAGTTGATTGC, NM_000070.3:c.956C>T, NM_000070.3:c.1319delG, NM_000070.3:c.1466G>A, NM_000070.3:c.1468C>T, NM_000070.3:c.1469G>A, NM_000070.3:c.1599_1602delGAGC, NM_000070.3:c.1610A>G, NM_000070.3:c.1715G>A, NM_000070.3:c.1743_1745+1delTGAG, NM_000070.3:c.1788_1789insA, NM_000070.3:c.1837delA, NM_000070.3:c.2120A>G, NM_000070.3:c.2212C>T, NM_000070.3:c.2243G>A, NM_000070.3:c.2248_2249insCAGT, NM_000070.3:c.2257G>A, NM_000070.3:c.2306G>A, NM_000070.3:c.2362_2363delAGinsTCATCT, NM_000070.3:c.2362_2363delAGinsTCATCT
DISEASES
VARIANTS
NM_000071.3:c.1616T>C, NM_000071.3:c.1471C>T, NM_000071.3:c.1397C>T, NM_000071.3:c.1379C>T, NM_000071.3:c.1330G>A, NM_000071.3:c.1316G>A, NM_000071.3:c.1265C>T, NM_000071.3:c.1150A>G, NM_000071.3:c.1136G>A, NM_000071.3:c.1058C>T, NM_000071.3:c.1006C>T, NM_000071.3:c.992C>A, NM_000071.3:c.969G>A, NM_000071.3:c.959T>C, NM_000071.3:c.919G>A, NM_000071.3:c.904G>A, NM_000071.3:c.797G>A, NM_000071.3:c.572C>T, NM_000071.3:c.526G>T, NM_000071.3:c.502G>A, NM_000071.3:c.415G>A, NM_000071.3:c.393G>C, NM_000071.3:c.374G>A, NM_000071.3:c.341C>T, NM_000071.3:c.325T>C, NM_000071.3:c.304A>C, NM_000071.3:c.162G>A, NM_000071.3:c.146C>T
DISEASES
VARIANTS
NM_022124.6:c.146-2A>G, NM_022124.6:c.189delC, NM_022124.6:c.288+1G>A, NM_022124.6:c.902G>A, NM_022124.6:c.1858+2T>G, NM_022124.6:c.3141C>A, NM_022124.6:c.3293A>G, NM_022124.6:c.3515_3518delCATC, NM_022124.6:c.3579+2T>C, NM_022124.6:c.4504C>T, NM_022124.6:c.5237G>A, NM_022124.6:c.5663T>C, NM_022124.6:c.6050-9G>A, NM_022124.6:c.6392delC, NM_022124.6:c.6442G>A, NM_022124.6:c.7660G>A, NM_022124.6:c.7823G>A, NM_022124.6:c.9319+1_9319+4delGTAA, NM_022124.6:c.9565C>T
DISEASES
VARIANTS
NM_025114.4:c.7394_7395delAG, NM_025114.4:c.7341dupA, NM_025114.4:c.7324G>T, NM_025114.4:c.6798G>A, NM_025114.4:c.6645+1G>A, NM_025114.4:c.6624delG, NM_025114.4:c.6448_6455delCAGTTGAA, NM_025114.4:c.5668G>T, NM_025114.4:c.5611_5614delCAAA, NM_025114.4:c.4962_4963delAA, NM_025114.4:c.4916C>A, NM_025114.4:c.4723A>T, NM_025114.4:c.4705-1G>T, NM_025114.4:c.4656delA, NM_025114.4:c.4393C>T, NM_025114.4:c.3185delT, NM_025114.4:c.2249T>G, NM_025114.4:c.1681C>T, NM_025114.4:c.1665_1666delAA, NM_025114.4:c.1501G>T, NM_025114.4:c.613C>T, NM_025114.4:c.384_387delTAGA, NM_025114.4:c.164_167delCTCA, NM_025114.4:c.21G>T
DISEASES
VARIANTS
NM_201548.5:c.1553_1569dupTTATCAGTCTTTATGGA, NM_201548.5:c.1012C>T, NM_201548.5:c.847C>T, NM_201548.5:c.780delT, NM_201548.5:c.769C>T, NM_201548.5:c.312delA
DISEASES
VARIANTS
NM_000492.3:c.*8753C-T, NM_000492.4:c.-165G>A, NM_000492.4:c.-13_10delCGCCCGAGAGACCATGCAGAGGT, NM_000492.4:c.1A>C, NM_000492.4:c.1A>G, NM_000492.4:c.2T>A, NM_000492.4:c.2T>C, NM_000492.4:c.2T>G, NM_000492.4:c.3G>A, NM_000492.4:c.4delC, NM_000492.4:c.3G>T, NM_000492.4:c.4C>T, NM_000492.4:c.11C>A, NM_000492.4:c.14C>T, NM_000492.4:c.19G>T, NM_000492.4:c.35_36insTATCA, NM_000492.4:c.38C>T, NM_000492.4:c.40delA, NM_000492.4:c.40A>T, NM_000492.4:c.43delC, NM_000492.4:c.44delT, NM_000492.4:c.43_44insT, NM_000492.4:c.43_44insTT, NM_000492.4:c.44T>C, NM_000492.4:c.51delC, NM_000492.4:c.53+1G>T, NM_000492.4:c.54-2A>G, NM_000492.4:c.54-1G>A, NM_000492.4:c.56G>A, NM_000492.4:c.57G>A, NM_000492.4:c.79delG, NM_000492.4:c.79G>A, NM_000492.4:c.79G>T, NM_000492.4:c.88C>T, NM_000492.4:c.98_115delAATTGTCAGACATATACC, NM_000492.4:c.104_105insA, NM_000492.4:c.109_110delAT, NM_000492.4:c.114C>G, NM_000492.4:c.115C>T, NM_000492.4:c.125C>T, NM_000492.4:c.137C>A, NM_000492.4:c.137C>T, NM_000492.4:c.143_146delATCT, NM_000492.4:c.148T>C, NM_000492.4:c.152delA, NM_000492.4:c.152_153insAAAATTGG, NM_000492.4:c.164+1G>A, NM_000492.4:c.164+1G>C, NM_000492.4:c.164+1_164+2insT, NM_000492.4:c.164+1G>T, NM_000492.4:c.164+2T>A, NM_000492.4:c.164+2T>C, NM_000492.4:c.164+2T>G, NM_000492.4:c.164+3_164+4insT, NM_000492.4:c.164+12T>C, NM_000492.4:c.165-3C>T, NM_000492.4:c.165-2A>G, NM_000492.4:c.165-1G>A, NM_000492.4:c.166G>A, NM_000492.4:c.167delA, NM_000492.4:c.166G>T, NM_000492.4:c.169T>G, NM_000492.4:c.170G>A, NM_000492.4:c.171G>A, NM_000492.4:c.172_175delGATA, NM_000492.4:c.174_175insA, NM_000492.4:c.178G>A, NM_000492.4:c.178G>T, NM_000492.4:c.200C>T, NM_000492.4:c.206T>A, NM_000492.4:c.215delC, NM_000492.4:c.220C>T, NM_000492.4:c.221G>A, NM_000492.4:c.223C>T, NM_000492.4:c.224G>A, NM_000492.4:c.228delT, NM_000492.4:c.227_228insT, NM_000492.4:c.234delC, NM_000492.4:c.236G>A, NM_000492.4:c.241delT, NM_000492.4:c.246_247insT, NM_000492.4:c.254G>A, NM_000492.4:c.254G>T, NM_000492.4:c.259_260delTT, NM_000492.4:c.259T>A, NM_000492.4:c.263T>A, NM_000492.4:c.263T>G, NM_000492.4:c.271G>A, NM_000492.4:c.273G>C, NM_000492.4:c.273+1G>A, NM_000492.4:c.273+3A>C, NM_000492.4:c.273+4A>G, NM_000492.4:c.274-2A>C, NM_000492.4:c.274-2A>G, NM_000492.4:c.274-1G>A, NM_000492.4:c.274-1G>C, NM_000492.4:c.274-1G>T, NM_000492.4:c.274G>A, NM_000492.4:c.274G>T, NM_000492.4:c.292C>T, NM_000492.4:c.293A>G, NM_000492.4:c.296C>T, NM_000492.4:c.302T>G, NM_000492.4:c.302_303insA, NM_000492.4:c.305T>G, NM_000492.4:c.307G>T, NM_000492.4:c.309delA, NM_000492.4:c.312delA, NM_000492.4:c.317_324delTAGCTTCC, NM_000492.4:c.325_326delTA, NM_000492.4:c.325T>C, NM_000492.4:c.325_327delTATinsG, NM_000492.4:c.325T>G, NM_000492.4:c.326A>G, NM_000492.4:c.327T>A, NM_000492.4:c.328delG, NM_000492.4:c.328G>C, NM_000492.4:c.328G>T, NM_000492.4:c.330C>A, NM_000492.4:c.340A>T, NM_000492.4:c.343G>T, NM_000492.4:c.346G>A, NM_000492.4:c.349C>T, NM_000492.4:c.350G>A, NM_000492.4:c.350G>T, NM_000492.4:c.355A>G, NM_000492.4:c.357delC, NM_000492.4:c.358G>A, NM_000492.4:c.366T>A, NM_000492.4:c.370G>C, NM_000492.4:c.376G>A, NM_000492.4:c.377G>A, NM_000492.4:c.378_379insTTA, NM_000492.4:c.380T>G, NM_000492.4:c.386delT, NM_000492.4:c.391delT, NM_000492.4:c.402_403insAC, NM_000492.4:c.409delC, NM_000492.4:c.409_412delCTCC, NM_000492.4:c.410T>C, NM_000492.4:c.411_412insCTA, NM_000492.4:c.415_416insGA, NM_000492.4:c.415_416insTA, NM_000492.4:c.416A>G, NM_000492.4:c.416A>T, NM_000492.4:c.419_420insA, NM_000492.4:c.422C>A, NM_000492.4:c.424delA, NM_000492.4:c.425delT, NM_000492.4:c.432delC, NM_000492.4:c.442delA, NM_000492.4:c.443T>A, NM_000492.4:c.443T>C, NM_000492.4:c.445G>A, NM_000492.4:c.445G>T, NM_000492.4:c.446G>T, NM_000492.4:c.454A>G, NM_000492.4:c.455T>G, NM_000492.4:c.459_476delAATAGCTATGTTTAGTTT, NM_000492.4:c.469_482delTTTAGTTTGATTTA, NM_000492.4:c.470T>G, NM_000492.4:c.473_474insT, NM_000492.4:c.476T>A, NM_000492.4:c.476T>C, NM_000492.4:c.481T>G, NM_000492.4:c.483_484insCC, NM_000492.4:c.487delA, NM_000492.4:c.487A>G, NM_000492.4:c.489+1G>T, NM_000492.4:c.489+2T>C, NM_000492.4:c.489+2T>G, NM_000492.4:c.489+3A>G, NM_000492.4:c.490-2A>C, NM_000492.4:c.490-2A>G, NM_000492.4:c.490-1G>A, NM_000492.4:c.490-1G>T, NM_000492.4:c.492delT, NM_000492.4:c.494T>C, NM_000492.4:c.496A>G, NM_000492.4:c.505_506insG, NM_000492.4:c.509G>A, NM_000492.4:c.518_522delATAAA, NM_000492.4:c.523A>G, NM_000492.4:c.525delA, NM_000492.4:c.530delT, NM_000492.4:c.529_530insT, NM_000492.4:c.532G>A, NM_000492.4:c.535C>A, NM_000492.4:c.541_544delGTTA, NM_000492.4:c.547C>A, NM_000492.4:c.549delC, NM_000492.4:c.559delA, NM_000492.4:c.567C>A, NM_000492.4:c.571T>G, NM_000492.4:c.575_579+2delATGAAGT, NM_000492.4:c.575A>G, NM_000492.4:c.577G>A, NM_000492.4:c.577G>T, NM_000492.4:c.579+1G>T, NM_000492.4:c.579+3A>G, NM_000492.4:c.579+5G>A, NM_000492.4:c.580-2A>C, NM_000492.4:c.580-1G>T, NM_000492.4:c.592G>A, NM_000492.4:c.595C>T, NM_000492.4:c.601delG, NM_000492.4:c.601G>A, NM_000492.4:c.606G>A, NM_000492.4:c.613C>T, NM_000492.4:c.617T>G, NM_000492.4:c.619C>T, NM_000492.4:c.647G>A, NM_000492.4:c.650_659delAGTTGTTACA, NM_000492.4:c.650A>G, NM_000492.4:c.653T>A, NM_000492.4:c.656_657insA, NM_000492.4:c.658C>T, NM_000492.4:c.675T>A, NM_000492.4:c.680T>G, NM_000492.4:c.695T>A, NM_000492.4:c.704delT, NM_000492.4:c.714delT, NM_000492.4:c.715delG, NM_000492.4:c.720_741delAGGGAGAATGATGATGAAGTAC, NM_000492.4:c.738_739insTACA, NM_000492.4:c.741C>G, NM_000492.4:c.743+1G>A, NM_000492.4:c.743+1G>C, NM_000492.4:c.743+2T>C, NM_000492.4:c.744-14_744-3delTGATTGATTTAC, NM_000492.4:c.744-2A>G, NM_000492.4:c.760delA, NM_000492.4:c.773delG, NM_000492.4:c.772A>G, NM_000492.4:c.794T>G, NM_000492.4:c.800delA, NM_000492.4:c.803_804delAT, NM_000492.4:c.811delT, NM_000492.4:c.825C>G, NM_000492.4:c.828C>A, NM_000492.4:c.830G>A, NM_000492.4:c.835G>T, NM_000492.4:c.844_845insA, NM_000492.4:c.846A>T, NM_000492.4:c.848_860delAAATGATTGAAAAinsTG, NM_000492.4:c.856_857insA, NM_000492.4:c.859_863delAACTT, NM_000492.4:c.864_868delAAGAC, NM_000492.4:c.865A>T, NM_000492.4:c.868C>T, NM_000492.4:c.869+1G>C, NM_000492.4:c.869+1G>T, NM_000492.4:c.869+3A>T, NM_000492.4:c.869+5G>A, NM_000492.4:c.870-2A>G, NM_000492.4:c.870-1G>C, NM_000492.4:c.880_881delAA, NM_000492.4:c.886_887insCT, NM_000492.4:c.912C>G, NM_000492.4:c.926delC, NM_000492.4:c.927_929delCTT, NM_000492.4:c.933C>G, NM_000492.4:c.938C>A, NM_000492.4:c.941G>A, NM_000492.4:c.946delT, NM_000492.4:c.950T>A, NM_000492.4:c.959T>A, NM_000492.4:c.980delT, NM_000492.4:c.985delA, NM_000492.4:c.988G>T, NM_000492.4:c.997C>T, NM_000492.4:c.1000C>T, NM_000492.4:c.1001G>A, NM_000492.4:c.1001G>T, NM_000492.4:c.1006_1007insG, NM_000492.4:c.1007T>A, NM_000492.4:c.1013C>T, NM_000492.4:c.1018delA, NM_000492.4:c.1018_1019insTC, NM_000492.4:c.1021T>C, NM_000492.4:c.1029delC, NM_000492.4:c.1029_1030insG, NM_000492.4:c.1037T>C, NM_000492.4:c.1040G>A, NM_000492.4:c.1040G>C, NM_000492.4:c.1040G>T, NM_000492.4:c.1045G>C, NM_000492.4:c.1046C>T, NM_000492.4:c.1052_1053delCT, NM_000492.4:c.1052C>G, NM_000492.4:c.1054C>T, NM_000492.4:c.1055G>A, NM_000492.4:c.1057C>T, NM_000492.4:c.1067delG, NM_000492.4:c.1068G>A, NM_000492.4:c.1075_1079delCAAACinsAAAAA, NM_000492.4:c.1075C>A, NM_000492.4:c.1079C>A, NM_000492.4:c.1081delT, NM_000492.4:c.1082delG, NM_000492.4:c.1083_1084insTATGA, NM_000492.4:c.1086T>A, NM_000492.4:c.1089_1090delCT, NM_000492.4:c.1090T>C, NM_000492.4:c.1115delA, NM_000492.4:c.1116G>T, NM_000492.4:c.1116+1G>A, NM_000492.4:c.1116+1G>C, NM_000492.4:c.1116+1G>T, NM_000492.4:c.1117-2A>G, NM_000492.4:c.1117-1G>A, NM_000492.4:c.1117G>A, NM_000492.4:c.1126_1127insA, NM_000492.4:c.1126C>T, NM_000492.4:c.1135G>T, NM_000492.4:c.1141A>T, NM_000492.4:c.1151delA, NM_000492.4:c.1151_1152insAT, NM_000492.4:c.1154_1155insT, NM_000492.4:c.1155_1156insTA, NM_000492.4:c.1159_1160delTT, NM_000492.4:c.1160_1166delTAACGAC, NM_000492.4:c.1175T>G, NM_000492.4:c.1177delG, NM_000492.4:c.1190_1191insA, NM_000492.4:c.1196delC, NM_000492.4:c.1202G>A, NM_000492.4:c.1203G>A, NM_000492.4:c.1209+1G>A, NM_000492.4:c.1209+1G>T, NM_000492.4:c.1210-34_1210-33delTG, NM_000492.4:c.1210-34_1210-31delTGTG, NM_000492.4:c.1210-35_1210-34insTG, NM_000492.4:c.1210-35_1210-34insTGTG, NM_000492.4:c.1210-14_1210-11delTGTT, NM_000492.4:c.1210-15_1210-13delGTGinsT, NM_000492.4:c.1210-12_1210-11delTT, NM_000492.4:c.1210-13_1210-12insTGTGTT, NM_000492.4:c.1210-13_1210-12insTGTT, NM_000492.4:c.1210-13_1210-12insTT, NM_000492.4:c.1210-13G>T, NM_000492.4:c.1210-11delTinsGTGTG, NM_000492.4:c.1210-11delTinsGTG, NM_000492.4:c.1210-11T>G, NM_000492.4:c.1210-2_1210-1delAG, NM_000492.4:c.1210-1delG, NM_000492.4:c.1219G>T, NM_000492.4:c.1231_1235delAAAGC, NM_000492.4:c.1235_1236insA, NM_000492.4:c.1240C>T, NM_000492.4:c.1297_1303delTTCTCAC, NM_000492.4:c.1301C>A, NM_000492.4:c.1301C>G, NM_000492.4:c.1315C>T, NM_000492.4:c.1323_1344delGAAAGATATTAATTTCAAGATA, NM_000492.4:c.1325_1326insAGAT, NM_000492.4:c.1328_1329delAT, NM_000492.4:c.1327G>T, NM_000492.4:c.1339delA, NM_000492.4:c.1344_1347delAGAA, NM_000492.4:c.1364C>A, NM_000492.4:c.1365_1366delGG, NM_000492.4:c.1367T>C, NM_000492.4:c.1370_1378delCTGGATCCA, NM_000492.4:c.1372delG, NM_000492.4:c.1373G>T, NM_000492.4:c.1393-2A>G, NM_000492.4:c.1393-1G>A, NM_000492.4:c.1397C>A, NM_000492.4:c.1397C>G, NM_000492.4:c.1399C>T, NM_000492.4:c.1400T>C, NM_000492.4:c.1407_1416delGGTGATTATG, NM_000492.4:c.1414_1415insT, NM_000492.4:c.1416delG, NM_000492.4:c.1433_1434delCA, NM_000492.4:c.1435G>T, NM_000492.4:c.1437delG, NM_000492.4:c.1438G>T, NM_000492.4:c.1439G>A, NM_000492.4:c.1444_1445insT, NM_000492.4:c.1456G>T, NM_000492.4:c.1466C>A, NM_000492.4:c.1468delT, NM_000492.4:c.1469_1470delTC, NM_000492.4:c.1475C>T, NM_000492.4:c.1477_1478delCA, NM_000492.4:c.1477C>T, NM_000492.4:c.1478A>T, NM_000492.4:c.1480_1481delTT, NM_000492.4:c.1487G>A, NM_000492.4:c.1505T>C, NM_000492.4:c.1505T>G, NM_000492.4:c.1510G>T, NM_000492.4:c.1516_1518delATC, NM_000492.4:c.1516A>G, NM_000492.4:c.1517T>C, NM_000492.4:c.1518C>G, NM_000492.4:c.1520_1522delTCT, NM_000492.4:c.1519A>G, NM_000492.4:c.1519A>T, NM_000492.4:c.1523T>G, NM_000492.4:c.1525delG, NM_000492.4:c.1525G>C, NM_000492.4:c.1528delG, NM_000492.4:c.1529_1530delTT, NM_000492.4:c.1538A>G, NM_000492.4:c.1542_1543delAT, NM_000492.4:c.1546_1547delAG, NM_000492.4:c.1550A>G, NM_000492.4:c.1558G>A, NM_000492.4:c.1558G>T, NM_000492.4:c.1559T>A, NM_000492.4:c.1572C>A, NM_000492.4:c.1573C>T, NM_000492.4:c.1584+1G>A, NM_000492.4:c.1584+1G>T, NM_000492.4:c.1584+2T>C, NM_000492.4:c.1585-8G>A, NM_000492.4:c.1585-2A>G, NM_000492.4:c.1585-1G>A, NM_000492.4:c.1588A>C, NM_000492.4:c.1601C>A, NM_000492.4:c.1606A>T, NM_000492.4:c.1610_1611delAC, NM_000492.4:c.1612_1613insAT, NM_000492.4:c.1624G>T, NM_000492.4:c.1625G>A, NM_000492.4:c.1628A>C, NM_000492.4:c.1642_1643delCT, NM_000492.4:c.1643_1646delTGAG, NM_000492.4:c.1645A>C, NM_000492.4:c.1646G>A, NM_000492.4:c.1646G>T, NM_000492.4:c.1647T>A, NM_000492.4:c.1647T>G, NM_000492.4:c.1648G>T, NM_000492.4:c.1650delA, NM_000492.4:c.1651delG, NM_000492.4:c.1651_1652delGGinsAA, NM_000492.4:c.1651G>A, NM_000492.4:c.1652G>A, NM_000492.4:c.1654C>A, NM_000492.4:c.1655delA, NM_000492.4:c.1654C>T, NM_000492.4:c.1657C>T, NM_000492.4:c.1658G>A, NM_000492.4:c.1660_1661insA, NM_000492.4:c.1670delC, NM_000492.4:c.1673T>C, NM_000492.4:c.1674delA, NM_000492.4:c.1675G>A, NM_000492.4:c.1679G>A, NM_000492.4:c.1679G>C, NM_000492.4:c.1679+1G>A, NM_000492.4:c.1679+1G>C, NM_000492.4:c.1679+2T>C, NM_000492.4:c.1680-886A>G, NM_000492.4:c.1680-883A>G, NM_000492.4:c.1680-877G>T, NM_000492.4:c.1680-1G>A, NM_000492.4:c.1680-1G>C, NM_000492.4:c.1680A>C, NM_000492.4:c.1681_1682insC, NM_000492.4:c.1682C>A, NM_000492.4:c.1684G>C, NM_000492.4:c.1687T>A, NM_000492.4:c.1687T>C, NM_000492.4:c.1687T>G, NM_000492.4:c.1690delA, NM_000492.4:c.1701delT, NM_000492.4:c.1700A>C, NM_000492.4:c.1703T>A, NM_000492.4:c.1705T>G, NM_000492.4:c.1706A>G, NM_000492.4:c.1707T>A, NM_000492.4:c.1713_1714delAG, NM_000492.4:c.1721C>A, NM_000492.4:c.1726G>T, NM_000492.4:c.1727G>C, NM_000492.4:c.1731C>A, NM_000492.4:c.1733_1734delTA, NM_000492.4:c.1736A>G, NM_000492.4:c.1738delG, NM_000492.4:c.1738_1739insT, NM_000492.4:c.1753G>T, NM_000492.4:c.1760T>C, NM_000492.4:c.1766G>A, NM_000492.4:c.1766+1G>A, NM_000492.4:c.1766+1G>C, NM_000492.4:c.1766+1G>T, NM_000492.4:c.1766+2T>A, NM_000492.4:c.1766+2T>C, NM_000492.4:c.1766+3A>C, NM_000492.4:c.1766+3A>G, NM_000492.4:c.1766+5G>T, NM_000492.4:c.1767-1G>A, NM_000492.4:c.1786_1787delGC, NM_000492.4:c.1792_1798delAAAACTA, NM_000492.4:c.1792A>T, NM_000492.4:c.1799delG, NM_000492.4:c.1826A>G, NM_000492.4:c.1826A>T, NM_000492.4:c.1837G>A, NM_000492.4:c.1841A>G, NM_000492.4:c.1853T>C, NM_000492.4:c.1865G>A, NM_000492.4:c.1871_1878delGCTATTTT, NM_000492.4:c.1882G>A, NM_000492.4:c.1882G>C, NM_000492.4:c.1900C>T, NM_000492.4:c.1909C>T, NM_000492.4:c.1911delG, NM_000492.4:c.1918_1919delTT, NM_000492.4:c.1919_1920insTA, NM_000492.4:c.1923C>A, NM_000492.4:c.1923_1931delCTCAAAACTinsA, NM_000492.4:c.1936G>T, NM_000492.4:c.1943delA, NM_000492.4:c.1943A>T, NM_000492.4:c.1966G>T, NM_000492.4:c.1970delG, NM_000492.4:c.1973_1985delGAAATTCAATCCTinsAGAAA, NM_000492.4:c.1973delGinsAGAAA, NM_000492.4:c.1974delA, NM_000492.4:c.1980delA, NM_000492.4:c.1979C>G, NM_000492.4:c.1984_1987delCTAA, NM_000492.4:c.1990G>T, NM_000492.4:c.2009_2010insA, NM_000492.4:c.2011delT, NM_000492.4:c.2017G>T, NM_000492.4:c.2036G>A, NM_000492.4:c.2042delA, NM_000492.4:c.2044_2045insC, NM_000492.4:c.2045_2046insA, NM_000492.4:c.2046_2047delAA, NM_000492.4:c.2051_2052insT, NM_000492.4:c.2051_2052delAAinsG, NM_000492.4:c.2052_2053insC, NM_000492.4:c.2053C>T, NM_000492.4:c.2057_2058insTTTT, NM_000492.4:c.2062A>T, NM_000492.4:c.2065C>T, NM_000492.4:c.2074G>T, NM_000492.4:c.2079_2080insG, NM_000492.4:c.2084delA, NM_000492.4:c.2107delA, NM_000492.4:c.2125C>T, NM_000492.4:c.2128A>T, NM_000492.4:c.2143C>T, NM_000492.4:c.2146A>T, NM_000492.4:c.2156T>A, NM_000492.4:c.2158C>T, NM_000492.4:c.2173_2174insA, NM_000492.4:c.2184_2185insA, NM_000492.4:c.2188G>T, NM_000492.4:c.2195T>G, NM_000492.4:c.2202delA, NM_000492.4:c.2215delG, NM_000492.4:c.2233G>T, NM_000492.4:c.2239_2246delGCGATACT, NM_000492.4:c.2248_2255delCCTCGCAT, NM_000492.4:c.2249C>T, NM_000492.4:c.2252G>T, NM_000492.4:c.2274_2275delCC, NM_000492.4:c.2274delC, NM_000492.4:c.2291delG, NM_000492.4:c.2290C>T, NM_000492.4:c.2320_2321delAC, NM_000492.4:c.2327C>G, NM_000492.4:c.2341C>T, NM_000492.4:c.2353C>T, NM_000492.4:c.2374C>T, NM_000492.4:c.2380delG, NM_000492.4:c.2389_2390insC, NM_000492.4:c.2395C>T, NM_000492.4:c.2416_2417insAT, NM_000492.4:c.2421A>G, NM_000492.4:c.2429delG, NM_000492.4:c.2433_2434insT, NM_000492.4:c.2440C>T, NM_000492.4:c.2443G>T, NM_000492.4:c.2452delT, NM_000492.4:c.2462_2463delGT, NM_000492.4:c.2464G>T, NM_000492.4:c.2467G>T, NM_000492.4:c.2471delT, NM_000492.4:c.2472_2473insAACG, NM_000492.4:c.2476G>T, NM_000492.4:c.2479G>T, NM_000492.4:c.2482_2483insA, NM_000492.4:c.2488A>T, NM_000492.4:c.2490+1G>A, NM_000492.4:c.2490+1G>T, NM_000492.4:c.2490+2T>C, NM_000492.4:c.2491-2A>C, NM_000492.4:c.2491-2A>G, NM_000492.4:c.2491G>T, NM_000492.4:c.2497delT, NM_000492.4:c.2496_2497insT, NM_000492.4:c.2506G>T, NM_000492.4:c.2508delT, NM_000492.4:c.2537G>A, NM_000492.4:c.2538G>A, NM_000492.4:c.2547C>A, NM_000492.4:c.2551C>T, NM_000492.4:c.2552G>T, NM_000492.4:c.2553_2554insT, NM_000492.4:c.2555A>T, NM_000492.4:c.2556T>G, NM_000492.4:c.2562delT, NM_000492.4:c.2566_2567insT, NM_000492.4:c.2573delG, NM_000492.4:c.2579delT, NM_000492.4:c.2584_2594delGTGCTAATTTG, NM_000492.4:c.2591_2592delTT, NM_000492.4:c.2600T>A, NM_000492.4:c.2600_2601insA, NM_000492.4:c.2615delC, NM_000492.4:c.2619+1G>A, NM_000492.4:c.2619+1_2619+2insT, NM_000492.4:c.2619+2T>A, NM_000492.4:c.2620-26A>G, NM_000492.4:c.2620-2A>G, NM_000492.4:c.2620-1G>C, NM_000492.4:c.2620-1G>T, NM_000492.4:c.2641_2642insTG, NM_000492.4:c.2645G>A, NM_000492.4:c.2657+1_2657+2insA, NM_000492.4:c.2657+5G>A, NM_000492.4:c.2658-2A>G, NM_000492.4:c.2658-1G>C, NM_000492.4:c.2658-1G>T, NM_000492.4:c.2668C>T, NM_000492.4:c.2686_2687insT, NM_000492.4:c.2700T>A, NM_000492.4:c.2735C>A, NM_000492.4:c.2737_2738insG, NM_000492.4:c.2738A>G, NM_000492.4:c.2739T>A, NM_000492.4:c.2757C>G, NM_000492.4:c.2758G>A, NM_000492.4:c.2761_2762insGA, NM_000492.4:c.2768C>A, NM_000492.4:c.2775delT, NM_000492.4:c.2775_2776delTT, NM_000492.4:c.2780T>C, NM_000492.4:c.2807_2810delCACTinsAGA, NM_000492.4:c.2809_2810insT, NM_000492.4:c.2810_2811insG, NM_000492.4:c.2813T>G, NM_000492.4:c.2822delT, NM_000492.4:c.2825delT, NM_000492.4:c.2834C>T, NM_000492.4:c.2836A>T, NM_000492.4:c.2845C>T, NM_000492.4:c.2851delA, NM_000492.4:c.2855T>C, NM_000492.4:c.2856G>C, NM_000492.4:c.2859_2890delACATTCTGTTCTTCAAGCACCTATGTCAACCC, NM_000492.4:c.2869_2870insG, NM_000492.4:c.2875delG, NM_000492.4:c.2876delC, NM_000492.4:c.2879_2882delCTAT, NM_000492.4:c.2896delA, NM_000492.4:c.2900T>C, NM_000492.4:c.2908G>C, NM_000492.4:c.2908+1G>A, NM_000492.4:c.2908+2T>C, NM_000492.4:c.2909-15T>G, NM_000492.4:c.2909-5_2909-4insATAGGTGGGATTCTTA, NM_000492.4:c.2909-1delG, NM_000492.4:c.2909-1G>A, NM_000492.4:c.2909G>A, NM_000492.4:c.2923_2924delAG, NM_000492.4:c.2930C>T, NM_000492.4:c.2932A>T, NM_000492.4:c.2936A>C, NM_000492.4:c.2936A>T, NM_000492.4:c.2939T>A, NM_000492.4:c.2945_2946delTT, NM_000492.4:c.2967_2968insA, NM_000492.4:c.2981_2988+1delTCATCCAGG, NM_000492.4:c.2984_2985insC, NM_000492.4:c.2988G>A, NM_000492.4:c.2988+1G>A, NM_000492.4:c.2988+1G>C, NM_000492.4:c.2988+1G>T, NM_000492.4:c.2988+2T>C, NM_000492.4:c.2989-2A>G, NM_000492.4:c.2989-2A>T, NM_000492.4:c.2989-1G>A, NM_000492.4:c.2991G>C, NM_000492.4:c.2992delT, NM_000492.4:c.2994_2997delATTA, NM_000492.4:c.2997delA, NM_000492.4:c.3000_3001delTG, NM_000492.4:c.3007G>T, NM_000492.4:c.3011delC, NM_000492.4:c.3014T>G, NM_000492.4:c.3017C>A, NM_000492.4:c.3020delT, NM_000492.4:c.3022delG, NM_000492.4:c.3032T>G, NM_000492.4:c.3037delC, NM_000492.4:c.3036_3037insC, NM_000492.4:c.3038C>A, NM_000492.4:c.3041_3042delAC, NM_000492.4:c.3041A>G, NM_000492.4:c.3061C>T, NM_000492.4:c.3063_3068delAGTGAT, NM_000492.4:c.3068_3072delTAGTG, NM_000492.4:c.3095A>G, NM_000492.4:c.3104delA, NM_000492.4:c.3103C>T, NM_000492.4:c.3107C>A, NM_000492.4:c.3110C>A, NM_000492.4:c.3124C>T, NM_000492.4:c.3139delG, NM_000492.4:c.3139_3139+1delGG, NM_000492.4:c.3139+1G>A, NM_000492.4:c.3139+1G>T, NM_000492.4:c.3140-26A>G, NM_000492.4:c.3140-1G>A, NM_000492.4:c.3154T>G, NM_000492.4:c.3161delA, NM_000492.4:c.3160C>G, NM_000492.4:c.3176T>G, NM_000492.4:c.3179A>C, NM_000492.4:c.3181G>C, NM_000492.4:c.3183_3184insCTATG, NM_000492.4:c.3188G>A, NM_000492.4:c.3189G>A, NM_000492.4:c.3194T>C, NM_000492.4:c.3196C>T, NM_000492.4:c.3197G>A, NM_000492.4:c.3199G>A, NM_000492.4:c.3200C>T, NM_000492.4:c.3205G>A, NM_000492.4:c.3208C>T, NM_000492.4:c.3209G>A, NM_000492.4:c.3211C>T, NM_000492.4:c.3212A>C, NM_000492.4:c.3215_3216insT, NM_000492.4:c.3222T>A, NM_000492.4:c.3227_3228delCT, NM_000492.4:c.3230_3231delTG, NM_000492.4:c.3230T>C, NM_000492.4:c.3254A>G, NM_000492.4:c.3261_3262insA, NM_000492.4:c.3264delC, NM_000492.4:c.3266G>A, NM_000492.4:c.3276C>A, NM_000492.4:c.3276C>G, NM_000492.4:c.3287delT, NM_000492.4:c.3291delC, NM_000492.4:c.3292T>C, NM_000492.4:c.3293delG, NM_000492.4:c.3293G>A, NM_000492.4:c.3294G>A, NM_000492.4:c.3294G>C, NM_000492.4:c.3294G>T, NM_000492.4:c.3299A>C, NM_000492.4:c.3302T>A, NM_000492.4:c.3302T>G, NM_000492.4:c.3304A>T, NM_000492.4:c.3310G>T, NM_000492.4:c.3315delG, NM_000492.4:c.3324delC, NM_000492.4:c.3342_3343insA, NM_000492.4:c.3353C>T, NM_000492.4:c.3363delA, NM_000492.4:c.3367+1G>A, NM_000492.4:c.3367+2T>A, NM_000492.4:c.3367+2T>C, NM_000492.4:c.3368-2A>G, NM_000492.4:c.3368-2A>T, NM_000492.4:c.3368-1G>A, NM_000492.4:c.3380G>A, NM_000492.4:c.3382A>T, NM_000492.4:c.3409A>G, NM_000492.4:c.3420_3421insAGTA, NM_000492.4:c.3430C>T, NM_000492.4:c.3434G>A, NM_000492.4:c.3435G>A, NM_000492.4:c.3445delT, NM_000492.4:c.3454G>C, NM_000492.4:c.3468G>A, NM_000492.4:c.3468+1G>A, NM_000492.4:c.3468+1_3468+2insT, NM_000492.4:c.3468+2T>C, NM_000492.4:c.3468+3_3468+4insT, NM_000492.4:c.3468+5G>A, NM_000492.4:c.3469-20T>C, NM_000492.4:c.3469-2A>G, NM_000492.4:c.3472C>T, NM_000492.4:c.3475T>C, NM_000492.4:c.3476C>T, NM_000492.4:c.3485_3486delGA, NM_000492.4:c.3484C>T, NM_000492.4:c.3485G>T, NM_000492.4:c.3495delG, NM_000492.4:c.3496delT, NM_000492.4:c.3527delC, NM_000492.4:c.3529delA, NM_000492.4:c.3529A>T, NM_000492.4:c.3531_3532insTCAA, NM_000492.4:c.3533_3536delCAAC, NM_000492.4:c.3533C>A, NM_000492.4:c.3538delA, NM_000492.4:c.3546C>G, NM_000492.4:c.3556C>T, NM_000492.4:c.3569_3570delTT, NM_000492.4:c.3587C>G, NM_000492.4:c.3592delG, NM_000492.4:c.3598delA, NM_000492.4:c.3605delA, NM_000492.4:c.3611G>A, NM_000492.4:c.3612G>A, NM_000492.4:c.3617C>A, NM_000492.4:c.3618_3619delAG, NM_000492.4:c.3617C>G, NM_000492.4:c.3619delG, NM_000492.4:c.3657_3658insA, NM_000492.4:c.3659delC, NM_000492.4:c.3659C>T, NM_000492.4:c.3664_3665insTCAA, NM_000492.4:c.3689delT, NM_000492.4:c.3700A>G, NM_000492.4:c.3712C>T, NM_000492.4:c.3717G>A, NM_000492.4:c.3717+1G>A, NM_000492.4:c.3717+4A>G, NM_000492.4:c.3717+5G>A, NM_000492.4:c.3717+40A>G, NM_000492.4:c.3718-2477C>T, NM_000492.4:c.3718-3T>G, NM_000492.4:c.3718-1G>A, NM_000492.4:c.3719T>G, NM_000492.4:c.3728T>A, NM_000492.4:c.3731G>A, NM_000492.4:c.3737C>T, NM_000492.4:c.3739G>A, NM_000492.4:c.3744delA, NM_000492.4:c.3745delG, NM_000492.4:c.3745G>A, NM_000492.4:c.3745G>C, NM_000492.4:c.3746G>A, NM_000492.4:c.3752G>A, NM_000492.4:c.3761T>G, NM_000492.4:c.3763T>C, NM_000492.4:c.3764C>A, NM_000492.4:c.3764C>G, NM_000492.4:c.3764C>T, NM_000492.4:c.3766_3767insC, NM_000492.4:c.3767_3768insT, NM_000492.4:c.3773_3774insG, NM_000492.4:c.3806T>A, NM_000492.4:c.3808delG, NM_000492.4:c.3808G>A, NM_000492.4:c.3810T>A, NM_000492.4:c.3812_3813delGT, NM_000492.4:c.3822G>A, NM_000492.4:c.3828delA, NM_000492.4:c.3834_3835delTT, NM_000492.4:c.3841C>T, NM_000492.4:c.3844T>G, NM_000492.4:c.3846G>A, NM_000492.4:c.3848G>T, NM_000492.4:c.3849_3850insAA, NM_000492.4:c.3854delC, NM_000492.4:c.3857T>C, NM_000492.4:c.3868C>A, NM_000492.4:c.3871C>T, NM_000492.4:c.3873G>C, NM_000492.4:c.3873+1G>A, NM_000492.4:c.3873+1G>T, NM_000492.4:c.3873+2T>C, NM_000492.4:c.3874-2A>G, NM_000492.4:c.3874-1G>A, NM_000492.4:c.3874delA, NM_000492.4:c.3878_3881delTATT, NM_000492.4:c.3883delA, NM_000492.4:c.3883_3884insG, NM_000492.4:c.3883_3884insT, NM_000492.4:c.3890_3891insT, NM_000492.4:c.3897_3898insT, NM_000492.4:c.3902_3903insA, NM_000492.4:c.3903delA, NM_000492.4:c.3907A>C, NM_000492.4:c.3909C>G, NM_000492.4:c.3915_3916insCC, NM_000492.4:c.3921T>A, NM_000492.4:c.3922G>T, NM_000492.4:c.3925C>T, NM_000492.4:c.3929G>A, NM_000492.4:c.3937C>T, NM_000492.4:c.3940_3947delGAAATATG, NM_000492.4:c.3947G>A, NM_000492.4:c.3957_3958insAGGG, NM_000492.4:c.3963+1G>A, NM_000492.4:c.3963+1G>C, NM_000492.4:c.3963+1G>T, NM_000492.4:c.3963+2T>A, NM_000492.4:c.3963+2T>G, NM_000492.4:c.3964-1G>A, NM_000492.4:c.3971T>C, NM_000492.4:c.3976delT, NM_000492.4:c.3985G>C, NM_000492.4:c.3987_3988delAC, NM_000492.4:c.3988C>T, NM_000492.4:c.3997delG, NM_000492.4:c.3997G>T, NM_000492.4:c.4003C>T, NM_000492.4:c.4004T>C, NM_000492.4:c.4023_4024insGGGG, NM_000492.4:c.4024delG, NM_000492.4:c.4034_4035insCCTA, NM_000492.4:c.4035_4041delCCTAAGC, NM_000492.4:c.4037_4038insA, NM_000492.4:c.4040_4041delGC, NM_000492.4:c.4041delC, NM_000492.4:c.4046G>A, NM_000492.4:c.4057delT, NM_000492.4:c.4056G>T, NM_000492.4:c.4077_4080delTGTTinsAA, NM_000492.4:c.4078delG, NM_000492.4:c.4085_4086insT, NM_000492.4:c.4111G>T, NM_000492.4:c.4124A>C, NM_000492.4:c.4126_4130delTTGGA, NM_000492.4:c.4136+1G>A, NM_000492.4:c.4139delC, NM_000492.4:c.4140delA, NM_000492.4:c.4141T>C, NM_000492.4:c.4143C>A, NM_000492.4:c.4143C>G, NM_000492.4:c.4144_4145insA, NM_000492.4:c.4144C>T, NM_000492.4:c.4169delA, NM_000492.4:c.4168C>T, NM_000492.4:c.4194_4195delTC, NM_000492.4:c.4198_4199delTG, NM_000492.4:c.4199delG, NM_000492.4:c.4200_4201insG, NM_000492.4:c.4201G>T, NM_000492.4:c.4231C>T, NM_000492.4:c.4234C>T, NM_000492.4:c.4242+1G>A, NM_000492.4:c.4242+1G>T, NM_000492.4:c.4242+2T>C, NM_000492.4:c.4242+5G>A, NM_000492.4:c.4243-2A>C, NM_000492.4:c.4243-2A>G, NM_000492.4:c.4243-1G>C, NM_000492.4:c.4250delA, NM_000492.4:c.4252delG, NM_000492.4:c.4252G>T, NM_000492.4:c.4272C>A, NM_000492.4:c.4272C>G, NM_000492.4:c.4280T>C, NM_000492.4:c.4296_4297insGA, NM_000492.4:c.4297G>A, NM_000492.4:c.4297G>T, NM_000492.4:c.4303_4316delAGCCTCTTCCGGCA, NM_000492.4:c.4326delC, NM_000492.4:c.4333G>A, NM_000492.4:c.4337delG, NM_000492.4:c.4357C>T, NM_000492.4:c.4364C>A, NM_000492.4:c.4364C>G, NM_000492.4:c.4400delT, NM_000492.4:c.4417G>T, NM_000492.4:c.4426C>T, NM_000492.4:c.-102delA, NM_000492.4:c.1210-35_1210-34insTGTGTG, NM_000492.4:c.1210-17_1210-13delGTGTGinsT, NM_000492.4:c.1210-11delTinsGTGTGTG
DISEASES
VARIANTS
NM_001042432.2:c.1272delG, NM_001042432.2:c.1210C>A, NM_001042432.2:c.883G>A, NM_001042432.2:c.622dupT, NM_001042432.2:c.597C>A
DISEASES
VARIANTS
NM_006493.4:c.188G>A, NM_006493.4:c.188G>C, NM_006493.4:c.230G>A, NM_006493.4:c.286C>T, NM_006493.4:c.377T>G, NM_006493.4:c.377_378insA, NM_006493.4:c.418C>T, NM_006493.4:c.428A>G, NM_006493.4:c.446T>C, NM_006493.4:c.448C>T, NM_006493.4:c.466C>T, NM_006493.4:c.472T>C, NM_006493.4:c.473G>C, NM_006493.4:c.521_522insC, NM_006493.4:c.688G>A, NM_006493.4:c.771delA, NM_006493.4:c.775_776delAT, NM_006493.4:c.803_818delATCTGGGAAATGAAAC, NM_006493.4:c.879C>A
DISEASES
VARIANTS
NM_017882.3:c.663C>G, NM_017882.3:c.307C>T, NM_017882.3:c.214G>T, NM_017882.3:c.214G>C, NM_017882.3:c.200T>C, NM_017882.3:c.139C>T
DISEASES
VARIANTS
NM_018941.4:c.88delG, NM_018941.4:c.88G>C, NM_018941.4:c.610C>T, NM_018941.4:c.789G>C
DISEASES
VARIANTS
NM_174878.3:c.633dupT, NM_174878.3:c.433+1061A>T, NM_174878.3:c.189C>A, NM_174878.3:c.144T>G, NM_174878.3:c.118T>G, NM_174878.3:c.92C>T
DISEASES
VARIANTS
NM_019098.5:c.2048_2049delCA, NM_019098.5:c.2011G>T, NM_019098.5:c.1672G>T, NM_019098.5:c.1405T>G, NM_019098.5:c.1208G>A, NM_019098.5:c.1148delC, NM_019098.5:c.1063C>T, NM_019098.5:c.893_897delCAAAA, NM_019098.5:c.887_896delCTTCTACAAA, NM_019098.5:c.886_890delACTTC, NM_019098.5:c.819_826delCAGACTCC, NM_019098.5:c.446_447insT
DISEASES
VARIANTS
NM_000091.5:c.343delG, NM_000091.5:c.346C>A, NM_000091.5:c.898G>A, NM_000091.5:c.2083G>A, NM_000091.5:c.2110delC, NM_000091.5:c.2954G>T, NM_000091.5:c.4411_4415delTTTTC, NM_000091.5:c.4421T>C, NM_000091.5:c.4441C>T, NM_000091.5:c.4484A>G, NM_000091.5:c.4571C>G, NM_000091.5:c.5002_*6delAAAAGACACTGAAGCTAA
DISEASES
VARIANTS
NM_000092.5:c.4923C>A, NM_000092.5:c.4129C>T, NM_000092.5:c.3713C>A, NM_000092.5:c.3601G>A, NM_000092.5:c.2312delG, NM_000092.5:c.71+1G>A
DISEASES
VARIANTS
NM_000094.4:c.8524_8527+10delGAAGGTGAGGACAG, NM_000094.4:c.8479C>T, NM_000094.4:c.8440C>T, NM_000094.4:c.8393T>A, NM_000094.4:c.8371C>T, NM_000094.4:c.8245G>A, NM_000094.4:c.7957G>A, NM_000094.4:c.7930-1G>C, NM_000094.4:c.7912G>T, NM_000094.4:c.7440+4delC, NM_000094.4:c.7411C>T, NM_000094.4:c.7345-1G>A, NM_000094.4:c.6946G>A, NM_000094.4:c.6859G>A, NM_000094.4:c.6752G>A, NM_000094.4:c.6670G>T, NM_000094.4:c.6573+1G>T, NM_000094.4:c.6527dupC, NM_000094.4:c.6205C>T, NM_000094.4:c.6187C>T, NM_000094.4:c.6091G>A, NM_000094.4:c.5821-1G>A, NM_000094.4:c.5532+1G>A, NM_000094.4:c.5443G>C, NM_000094.4:c.5287C>T, NM_000094.4:c.5096C>T, NM_000094.4:c.5052+1G>A, NM_000094.4:c.4888C>T, NM_000094.4:c.4783G>C, NM_000094.4:c.4373C>T, NM_000094.4:c.4119+1G>T, NM_000094.4:c.4039G>C, NM_000094.4:c.3831+1G>T, NM_000094.4:c.3809C>T, NM_000094.4:c.2471dupG, NM_000094.4:c.1907G>T, NM_000094.4:c.933C>A, NM_000094.4:c.887delG, NM_000094.4:c.706C>T, NM_000094.4:c.592G>A, NM_000094.4:c.425A>G, NM_000094.4:c.336C>G, NM_000094.4:c.238G>T
DISEASES
VARIANTS
NM_001875.5:c.697C>T, NM_001875.5:c.1631C>T, NM_001875.5:c.1912C>T, NM_001875.5:c.3555delA
DISEASES
VARIANTS
NM_001876.4:c.1538C>T, NM_001876.4:c.1493A>G, NM_001876.4:c.1436C>T, NM_001876.4:c.1393G>T, NM_001876.4:c.1361A>G, NM_001876.4:c.1241C>T, NM_001876.4:c.1216C>T, NM_001876.4:c.1079A>G, NM_001876.4:c.335_336delCC, NM_001876.4:c.298C>T, NM_001876.4:c.281+1G>A, NM_001876.4:c.222C>A
DISEASES
VARIANTS
NM_000098.3:c.149C>A, NM_000098.3:c.338C>T, NM_000098.3:c.359A>G, NM_000098.3:c.370C>T, NM_000098.3:c.452G>A, NM_000098.3:c.463_464insT, NM_000098.3:c.481C>T, NM_000098.3:c.520G>A, NM_000098.3:c.638A>G, NM_000098.3:c.680C>T, NM_000098.3:c.723_724delAC, NM_000098.3:c.886C>T, NM_000098.3:c.1148T>A, NM_000098.3:c.1238_1239delAG, NM_000098.3:c.1237C>T, NM_000098.3:c.1369A>T, NM_000098.3:c.1437C>G, NM_000098.3:c.1763C>G, NM_000098.3:c.1782delC, NM_000098.3:c.1883A>C, NM_000098.3:c.1891C>T
DISEASES
VARIANTS
NM_201253.3:c.484G>A, NM_201253.3:c.493_501delGATGGAATT, NM_201253.3:c.610_616delGAAATAG, NM_201253.3:c.936T>G, NM_201253.3:c.2290C>T, NM_201253.3:c.2401A>T, NM_201253.3:c.2416G>T, NM_201253.3:c.2688T>A, NM_201253.3:c.2843G>A, NM_201253.3:c.2983G>T, NM_201253.3:c.3053_3054insTTATA, NM_201253.3:c.3094G>A, NM_201253.3:c.3122T>C, NM_201253.3:c.3299T>C, NM_201253.3:c.3299T>G, NM_201253.3:c.3383delT, NM_201253.3:c.3419T>A, NM_201253.3:c.3997G>T
DISEASES
VARIANTS
NM_004937.3:c.124G>A, NM_004937.3:c.283G>T, NM_004937.3:c.329G>T, NM_004937.3:c.357_360delCAGC, NM_004937.3:c.397_398delAT, NM_004937.3:c.414G>A, NM_004937.3:c.416C>T, NM_004937.3:c.506G>A, NM_004937.3:c.589G>A, NM_004937.3:c.645_646insA, NM_004937.3:c.853-3C>G, NM_004937.3:c.1015G>A
DISEASES
VARIANTS
NM_001909.5:c.1149G>C, NM_001909.5:c.685T>A
DISEASES
VARIANTS
NM_000396.4:c.926T>C, NM_000396.4:c.721C>T, NM_000396.4:c.436G>C, NM_000396.4:c.236G>A, NM_000396.4:c.154A>T
DISEASES
VARIANTS
NM_000500.9:c.293-13C/A>G, NM_000500.9:c.332_339del, NM_000500.9:c.518T>A, NM_000500.9:c.710T>A, NM_000500.9:c.713T>A, NM_000500.9:c.719T>A, NM_000500.9:c.923dup, NM_000500.9:c.955C>T, NM_000500.9:c.1069C>T, 30kb deletion, Large gene conversion
DISEASES
VARIANTS
NM_001918.5:c.1281+1G>A, NM_001918.5:c.939G>C, NM_001918.5:c.901C>T, NM_001918.5:c.871C>T, NM_001918.5:c.827T>G, NM_001918.5:c.772+1G>A, NM_001918.5:c.670G>T, NM_001918.5:c.581C>G, NM_001918.5:c.294C>G, NM_001918.5:c.272_275delCAGT, NM_001918.5:c.126T>G
DISEASES
VARIANTS
NM_001033855.3:c.1903dupA, NM_001033855.3:c.1639G>T, NM_001033855.3:c.1559dupA, NM_001033855.3:c.780+1delG, NM_001033855.3:c.597C>A, NM_001033855.3:c.457G>A, NM_001033855.3:c.2T>C
DISEASES
VARIANTS
NM_000107.3:c.730A>G, NM_000107.3:c.818G>A, NM_000107.3:c.919G>T, NM_000107.3:c.937C>T
DISEASES
VARIANTS
NM_001360.3:c.1342G>A, NM_001360.3:c.1337G>A, NM_001360.3:c.1228G>A, NM_001360.3:c.1210C>T, NM_001360.3:c.1055G>A, NM_001360.3:c.1054C>T, NM_001360.3:c.1031G>A, NM_001360.3:c.976G>T, NM_001360.3:c.964-1G>C, NM_001360.3:c.907G>A, NM_001360.3:c.904T>C, NM_001360.3:c.866C>T, NM_001360.3:c.841G>A, NM_001360.3:c.839A>G, NM_001360.3:c.832-1G>C, NM_001360.3:c.744G>T, NM_001360.3:c.730G>A, NM_001360.3:c.725G>A, NM_001360.3:c.724C>T, NM_001360.3:c.682C>T, NM_001360.3:c.506C>T, NM_001360.3:c.461C>G, NM_001360.3:c.453G>A, NM_001360.3:c.452G>A, NM_001360.3:c.356A>T, NM_001360.3:c.292C>T, NM_001360.3:c.278C>T, NM_001360.3:c.151C>T, NM_001360.3:c.1A>G
DISEASES
VARIANTS
NM_205861.3:c.124A>G, NM_205861.3:c.328delA, NM_205861.3:c.995C>G
DISEASES
VARIANTS
NM_000108.5:c.105_106insA, NM_000108.5:c.913_923delACTTGTGATGT, NM_000108.5:c.1483A>G
DISEASES
VARIANTS
NM_004006.3:c.10774delA, NM_004006.3:c.10454delT, NM_004006.3:c.10453_10454delCT, NM_004006.3:c.10447_10448delTC, NM_004006.3:c.10141C>T, NM_004006.3:c.10086+1G>A, NM_004006.3:c.10033C>T, NM_004006.3:c.9854_9863delTGAGACTGGA, NM_004006.3:c.9862G>T, NM_004006.3:c.9851G>A, NM_004006.3:c.9650-2A>G, NM_004006.3:c.9568C>T, NM_004006.3:c.9564-1G>A, NM_004006.3:c.9380C>G, NM_004006.3:c.9361+1G>C, NM_004006.3:c.9361+1G>A, NM_004006.3:c.9346C>T, NM_004006.3:c.9337C>T, NM_004006.3:c.9164-1G>T, NM_004006.3:c.9164-1G>C, NM_004006.3:c.8944C>T, NM_004006.3:c.8713C>T, NM_004006.3:c.8668G>A, NM_004006.3:c.8656C>T, NM_004006.3:c.8652_8653delCT, NM_004006.3:c.8608C>T, NM_004006.3:c.8464C>T, NM_004006.3:c.8443C>T, NM_004006.3:c.8374_8375delAA, NM_004006.3:c.8358G>A, NM_004006.3:c.8086delC, NM_004006.3:c.8069T>G, NM_004006.3:c.8064_8065delTA, NM_004006.3:c.7922delA, NM_004006.3:c.7894C>T, NM_004006.3:c.7771G>T, NM_004006.3:c.7764dupT, NM_004006.3:c.7683G>A, NM_004006.3:c.7682G>A, NM_004006.3:c.6986dupA, NM_004006.3:c.6982A>T, NM_004006.3:c.6964delG, NM_004006.3:c.6943G>T, NM_004006.3:c.6936delA, NM_004006.3:c.6906G>A, NM_004006.3:c.6834delT, NM_004006.3:c.6763-2A>G, NM_004006.3:c.6391_6392dupCA, NM_004006.3:c.6391_6392delCA, NM_004006.3:c.6373C>T, NM_004006.3:c.6340A>T, NM_004006.3:c.6292C>T, NM_004006.3:c.6238delC, NM_004006.3:c.6226G>T, NM_004006.3:c.6182delC, NM_004006.3:c.6014_6017delCTCA, NM_004006.3:c.6000T>A, NM_004006.3:c.5922+3G>C, NM_004006.3:c.5899C>T, NM_004006.3:c.5807T>A, NM_004006.3:c.5773G>T, NM_004006.3:c.5697delA, NM_004006.3:c.5671A>T, NM_004006.3:c.5640T>A, NM_004006.3:c.5570_5571dupAA, NM_004006.3:c.5554C>T, NM_004006.3:c.5530C>T, NM_004006.3:c.5363C>G, NM_004006.3:c.5353C>T, NM_004006.3:c.5313dupT, NM_004006.3:c.5287C>T, NM_004006.3:c.4843A>T, NM_004006.3:c.4806A>T, NM_004006.3:c.4735G>T, NM_004006.3:c.4518+5G>A, NM_004006.3:c.4500delA, NM_004006.3:c.4486delG, NM_004006.3:c.4471_4472delAA, NM_004006.3:c.4409_4412dupGTCT, NM_004006.3:c.4405C>T, NM_004006.3:c.4375C>T, NM_004006.3:c.4117C>T, NM_004006.3:c.4071G>C, NM_004006.3:c.3779_3783delCTTTG, NM_004006.3:c.3747delG, NM_004006.3:c.3697delC, NM_004006.3:c.3639dupA, NM_004006.3:c.3432+3A>G, NM_004006.3:c.3432+1G>A, NM_004006.3:c.3295C>T, NM_004006.3:c.3276+1G>A, NM_004006.3:c.3246_3247insTTTCTAAAAA, NM_004006.3:c.3124A>T, NM_004006.3:c.3121C>T, NM_004006.3:c.3087G>A, NM_004006.3:c.3076G>T, NM_004006.3:c.3022A>T, NM_004006.3:c.2929dupC, NM_004006.3:c.2866C>T, NM_004006.3:c.2815_2816delTT, NM_004006.3:c.2816T>A, NM_004006.3:c.2804-1G>A, NM_004006.3:c.2804-2A>T, NM_004006.3:c.2803+1G>T, NM_004006.3:c.2803+1G>A, NM_004006.3:c.2758C>T, NM_004006.3:c.2755A>T, NM_004006.3:c.2650C>T, NM_004006.3:c.2547delT, NM_004006.3:c.2523delA, NM_004006.3:c.2484T>G, NM_004006.3:c.2482T>G, NM_004006.3:c.2479delG, NM_004006.3:c.2380+2T>C, NM_004006.3:c.2380+1G>C, NM_004006.3:c.2332C>T, NM_004006.3:c.2302C>T, NM_004006.3:c.2294_2297delCCAT, NM_004006.3:c.2281_2285delGAAAA, NM_004006.3:c.2169-3delT, NM_004006.3:c.2137C>T, NM_004006.3:c.2125delC, NM_004006.3:c.1900_1903dupAAGT, NM_004006.3:c.1900A>T, NM_004006.3:c.1886C>A, NM_004006.3:c.1734delA, NM_004006.3:c.1529_1530delTC, NM_004006.3:c.1489C>T, NM_004006.3:c.1371delG, NM_004006.3:c.1341_1342dupAG, NM_004006.3:c.1332-9A>G, NM_004006.3:c.1306dupG, NM_004006.3:c.1286C>A, NM_004006.3:c.1261C>T, NM_004006.3:c.1070delC, NM_004006.3:c.1048G>T, NM_004006.3:c.1012G>T, NM_004006.3:c.676_678delAAG, NM_004006.3:c.627delA, NM_004006.3:c.615T>A, NM_004006.3:c.583C>T, NM_004006.3:c.530+1delG, NM_004006.3:c.489G>A, NM_004006.3:c.433C>T, NM_004006.3:c.412_413delAA, NM_004006.3:c.220delC, NM_004006.3:c.204dupC, NM_004006.3:c.199G>T, NM_004006.3:c.160_162delCTC, NM_004006.3:c.137_138dupAT, NM_004006.3:c.137A>T, NM_004006.3:c.133C>T, CNV deletions/ duplications
DISEASES
VARIANTS
NM_000110.4:c.1905+1G>A, NM_000110.4:c.1679T>G, NM_000110.4:c.1109_1110delTA, NM_000110.4:c.775A>G, NM_000110.4:c.703C>T, NM_000110.4:c.299_302delTCAT, NM_000110.4:c.257C>T
DISEASES
VARIANTS
NM_001130987.2:c.203_204delTGinsAT, NM_001130987.2:c.289A>C, NM_001130987.2:c.394_395delCC, NM_001130987.2:c.547C>T, NM_001130987.2:c.605C>A, NM_001130987.2:c.661C>G, NM_001130987.2:c.706C>T, NM_001130987.2:c.759+1G>C, NM_001130987.2:c.797G>A, NM_001130987.2:c.853C>T, NM_001130987.2:c.991G>A, NM_001130987.2:c.991G>T, NM_001130987.2:c.1033+1G>A, NM_001130987.2:c.1149+1G>A, NM_001130987.2:c.1216G>C, NM_001130987.2:c.1312T>C, NM_001130987.2:c.1372G>A, NM_001130987.2:c.1380+2T>C, NM_001130987.2:c.1464C>A, NM_001130987.2:c.1487_1488insA, NM_001130987.2:c.1494-2A>G, NM_001130987.2:c.1494-1G>A, NM_003494.4:c.1481-1G>A, NM_001130987.2:c.1609G>A, NM_001130987.2:c.1674delA, NM_001130987.2:c.1692+2T>A, NM_001130987.2:c.1717C>T, NM_001130987.2:c.1867C>T, NM_001130987.2:c.1888C>T, NM_001130987.2:c.1915G>C, NM_001130987.2:c.1927G>T, NM_001130987.2:c.2921_2925delACCAG, NM_001130987.2:c.2923C>T, NM_001130987.2:c.3020C>T, NM_001130987.2:c.3051G>T, NM_001130987.2:c.3095A>G, NM_001130987.2:c.3119G>A, NM_001130987.2:c.3166C>T, NM_001130987.2:c.3167G>C, NM_001130987.2:c.3175C>T, NM_001130987.2:c.3184C>T, NM_001130987.2:c.3212T>G, NM_001130987.2:c.3229-2A>T, NM_001130987.2:c.3235_3236insAGGCGG, NM_001130987.2:c.3498_3499delTGinsAA, NM_001130987.2:c.3531C>A, NM_001130987.2:c.3532C>T, NM_001130987.2:c.3694delC, NM_001130987.2:c.3762delA, NM_001130987.2:c.3778C>T, NM_001130987.2:c.3859G>T, NM_001130987.2:c.3913A>T, NM_001130987.2:c.3946A>G, NM_001130987.2:c.3957delG, NM_001130987.2:c.4011delC, NM_001130987.2:c.4039C>G, NM_001130987.2:c.4057G>A, NM_001130987.2:c.4144C>T, NM_001130987.2:c.4159_4160delTG, NM_001130987.2:c.4253C>A, NM_001130987.2:c.4307G>A, NM_001130987.2:c.4873C>T, NM_001130987.2:c.5102C>T, NM_001130987.2:c.5194C>T, NM_001130987.2:c.5318A>G, NM_001130987.2:c.5383C>T, NM_001130987.2:c.5458-2A>C, NM_001130987.2:c.5546G>A, NM_001130987.2:c.5546+1G>T, NM_001130987.2:c.5614G>T, NM_001130987.2:c.5626G>A, NM_001130987.2:c.5642+1G>A, NM_001130987.2:c.5710delG, NM_001130987.2:c.5761C>T, NM_001130987.2:c.5812_5813delGA, NM_001130987.2:c.5830C>T, NM_001130987.2:c.5952_5955delCCAG, NM_001130987.2:c.6095_6096insA, NM_001130987.2:c.6109G>T, NM_001130987.2:c.6115C>T, NM_001130987.2:c.6116G>A, NM_001130987.2:c.6241C>T, NM_001130987.2:c.6320C>T, NM_001130987.2:c.4993delG
DISEASES
VARIANTS
NM_001399.5:c.181T>C, NM_001399.5:c.183C>G, NM_001399.5:c.187G>A, NM_001399.5:c.206G>T, NM_001399.5:c.463C>T, NM_001399.5:c.466C>T, NM_001399.5:c.467G>A, NM_001399.5:c.573_574insT, NM_001399.5:c.671G>C, NM_001399.5:c.826C>T, NM_001399.5:c.1045G>A
DISEASES
VARIANTS
NM_004836.7:c.1763G>A, NM_004836.7:c.994G>T
DISEASES
VARIANTS
NM_000117.3:c.547C>A, NM_000117.3:c.630_634delCCGTG
DISEASES
VARIANTS
NM_000400.4:c.2230_2233dupCTAG, NM_000400.4:c.2176C>T, NM_000400.4:c.2047C>T, NM_000400.4:c.1972C>T, NM_000400.4:c.1703_1704delTT, NM_000400.4:c.1621A>C, NM_000400.4:c.1454T>C, NM_000400.4:c.1381C>G, NM_000400.4:c.1354C>T, NM_000400.4:c.1308-1G>A, NM_000400.4:c.1304T>G, NM_000400.4:c.950-2A>G, NM_000400.4:c.949+1G>A, NM_000400.4:c.719-1G>A, NM_000400.4:c.567G>A, NM_000400.4:c.183+2T>A
DISEASES
VARIANTS
NM_000122.2:c.1858delG, NM_000122.2:c.1757_1758delAG, NM_000122.2:c.1757delA, NM_000122.2:c.1633C>T, NM_000122.2:c.1273C>T, NM_000122.2:c.296T>C
DISEASES
VARIANTS
NM_005236.3:c.2T>C, NM_005236.3:c.49G>T, NM_005236.3:c.538_539delAG, NM_005236.3:c.706T>C, NM_005236.3:c.1461_1462insA, NM_005236.3:c.2280_2283delGTTT, NM_005236.3:c.2395C>T
DISEASES
VARIANTS
NM_000123.4:c.88+2T>C, NM_000123.4:c.215C>A, NM_000123.4:c.381-2A>G, NM_000123.4:c.406C>T, NM_000123.4:c.463_464insA, NM_000123.4:c.526C>T, NM_000123.4:c.787C>T, NM_000123.4:c.2143_2144insA, NM_000123.4:c.2375C>T, NM_000123.4:c.2573T>C, NM_000123.4:c.2620G>A, NM_000123.4:c.2743delA
DISEASES
VARIANTS
NM_000124.4:c.3862C>T, NM_000124.4:c.3591_3592dupGA, NM_000124.4:c.3284C>G, NM_000124.4:c.2587C>T, NM_000124.4:c.2203C>T, NM_000124.4:c.2047C>T, NM_000124.4:c.1550G>A, NM_000124.4:c.1357C>T, NM_000124.4:c.422+1G>A, NM_000124.4:c.207dupG, NM_000124.4:c.48_49delCT
DISEASES
VARIANTS
NM_000082.4:c.966C>A, NM_000082.4:c.618-1G>A, NM_000082.4:c.613G>C, NM_000082.4:c.593_594dupAT, NM_000082.4:c.37G>T
DISEASES
VARIANTS
NM_001017420.3:c.291_292insGA, NM_001017420.3:c.306_307delAA, NM_001017420.3:c.505C>T, NM_001017420.3:c.604C>T, NM_001017420.3:c.874_877delGACA, NM_001017420.3:c.877_878delAG, NM_001017420.3:c.1269G>A, NM_001017420.3:c.1596_1597insT, NM_001017420.3:c.1615T>G
DISEASES
VARIANTS
NM_000126.4:c.797C>T, NM_000126.4:c.470T>G
DISEASES
VARIANTS
NM_001985.3:c.614_616delAGA, NM_001985.3:c.491G>A, NM_001985.3:c.490C>T, NM_001985.3:c.382G>A, NM_001985.3:c.278_279insG, NM_001985.3:c.61C>T, NM_001985.3:c.58-53_58-52insG
DISEASES
VARIANTS
NM_004453.4:c.2T>C, NM_004453.4:c.250G>A, NM_004453.4:c.413T>G, NM_004453.4:c.508G>T, NM_004453.4:c.524G>T, NM_004453.4:c.643G>A, NM_004453.4:c.1001T>C, NM_004453.4:c.1234G>T, NM_004453.4:c.1351G>C, NM_004453.4:c.1367C>T, NM_004453.4:c.1568_1569delCT, NM_004453.4:c.1773_1774delAT, NM_004453.4:c.1822delG, NM_004453.4:c.1832G>A
DISEASES
VARIANTS
NM_014297.5:c.604dupG, NM_014297.5:c.554T>G, NM_014297.5:c.488G>A, NM_014297.5:c.487C>T, NM_014297.5:c.440_450delACAGCATGGCC, NM_014297.5:c.221dupA
DISEASES
VARIANTS
NM_001142800.2:c.9405T>A, NM_001142800.2:c.9299_9302delCTCA, NM_001142800.2:c.9036delT, NM_001142800.2:c.8834G>A, NM_001142800.2:c.8648_8655delCATGCAGA, NM_001142800.2:c.8629_8632dupACAG, NM_001142800.2:c.8569G>T, NM_001142800.2:c.8408dupA, NM_001142800.2:c.7822C>T, NM_001142800.2:c.7095T>G, NM_001142800.2:c.6170delA, NM_001142800.2:c.6102dupT, NM_001142800.2:c.5928-2A>G, NM_001142800.2:c.5857G>T, NM_001142800.2:c.5757dupT, NM_001142800.2:c.5044G>T, NM_001142800.2:c.4597_4613delTCAAGCAACCAGAGACT, NM_001142800.2:c.4462_4469dupAGCCCCTC, NM_001142800.2:c.4350_4356delTATAGCT, NM_001142800.2:c.4120C>T, NM_001142800.2:c.4045C>T, NM_001142800.2:c.3329C>G, NM_001142800.2:c.2826_2827delAT, NM_001142800.2:c.1211dupA, NM_001142800.2:c.863-4_863-3insT, NM_001142800.2:c.571dupA, NM_001142800.2:c.490C>T, NM_001142800.2:c.232delT, NM_001142800.2:c.103C>T
DISEASES
VARIANTS
NM_000128.4:c.166T>C, NM_000128.4:c.403G>T, NM_000128.4:c.438C>A, NM_000128.4:c.595+3A>G, NM_000128.4:c.731A>G, NM_000128.4:c.809A>T, NM_000128.4:c.901T>C, NM_000128.4:c.1211C>A, NM_000128.4:c.1613C>T, NM_000128.4:c.1693G>A
DISEASES
VARIANTS
Intron 22 inversion, NM_000132.4:c.7033_7040delTGCGAGGC, NM_000132.4:c.7034G>A, NM_000132.4:c.7031G>A, NM_000132.4:c.7030G>T, NM_000132.4:c.7030G>A, NM_000132.4:c.7021G>T, NM_000132.4:c.7016G>T, NM_000132.4:c.7012delC, NM_000132.4:c.6996G>A, NM_000132.4:c.6995G>C, NM_000132.4:c.6988delC, NM_000132.4:c.6986C>T, NM_000132.4:c.6969_6977delCTACCTTCG, NM_000132.4:c.6976C>G, NM_000132.4:c.6921delC, NM_000132.4:c.6919_6920delGA, NM_000132.4:c.6914_6918delATCAA, NM_000132.4:c.6915delT, NM_000132.4:c.6905T>C, NM_000132.4:c.6904T>G, NM_000132.4:c.6901-2A>G, NM_000132.4:c.6900+1G>A, NM_000132.4:c.6887delA, NM_000132.4:c.6870G>A, NM_000132.4:c.6869G>T, NM_000132.4:c.6857_6867delATGGCCATCAG, NM_000132.4:c.6865C>T, NM_000132.4:c.6842T>C, NM_000132.4:c.6839T>C, NM_000132.4:c.6836T>G, NM_000132.4:c.6836T>C, NM_000132.4:c.6827T>G, NM_000132.4:c.6825T>A, NM_000132.4:c.6797delG, NM_000132.4:c.6797G>A, NM_000132.4:c.6796G>A, NM_000132.4:c.6780_6788delAGGAGTAAC, NM_000132.4:c.6786_6787insCAA, NM_000132.4:c.6760delC, NM_000132.4:c.6760C>T, NM_000132.4:c.6752T>A, NM_000132.4:c.6746T>G, NM_000132.4:c.6743G>C, NM_000132.4:c.6740_6741delAG, NM_000132.4:c.6739G>T, NM_000132.4:c.6738delA, NM_000132.4:c.6574+5G>C, NM_000132.4:c.6574+3A>C, NM_000132.4:c.6574+1G>T, NM_000132.4:c.6574+1G>A, NM_000132.4:c.6565_6566delGA, NM_000132.4:c.6551A>T, NM_000132.4:c.6548T>G, NM_000132.4:c.6544C>G, NM_000132.4:c.6537C>G, NM_000132.4:c.6533G>A, NM_000132.4:c.6520C>G, NM_000132.4:c.6517_6519dupACT, NM_000132.4:c.6515C>G, NM_000132.4:c.6501delC, NM_000132.4:c.6497delG, NM_000132.4:c.6494delC, NM_000132.4:c.6488T>G, NM_000132.4:c.6482C>T, NM_000132.4:c.6482C>A, NM_000132.4:c.6477delT, NM_000132.4:c.6469_6470delAA, NM_000132.4:c.6468_6469delCA, NM_000132.4:c.6465delA, NM_000132.4:c.6464_6465delAA, NM_000132.4:c.6449A>T, NM_000132.4:c.6430-3C>G, NM_000132.4:c.6273+1G>A, NM_000132.4:c.6269T>A, NM_000132.4:c.6263C>T, NM_000132.4:c.6253G>T, NM_000132.4:c.6250A>T, NM_000132.4:c.6243G>C, NM_000132.4:c.6242G>C, NM_000132.4:c.6239C>T, NM_000132.4:c.6213A>T, NM_000132.4:c.6194G>A, NM_000132.4:c.6136dupA, NM_000132.4:c.6120_6135delTCAGACTCCCCTGGGA, NM_000132.4:c.6134G>T, NM_000132.4:c.6130delC, NM_000132.4:c.6120T>A, NM_000132.4:c.6116_6117delAG, NM_000132.4:c.6116-2A>G, NM_000132.4:c.6115+6T>A, NM_000132.4:c.6115+4A>G, NM_000132.4:c.6115+3G>T, NM_000132.4:c.6115+2T>C, NM_000132.4:c.6115+1G>A, NM_000132.4:c.6107A>G, NM_000132.4:c.6099delT, NM_000132.4:c.6094C>T, NM_000132.4:c.6089dupG, NM_000132.4:c.6084delG, NM_000132.4:c.6078_6079delTG, NM_000132.4:c.6070dupC, NM_000132.4:c.6046C>G, NM_000132.4:c.6037G>A, NM_000132.4:c.6016G>T, NM_000132.4:c.5999G>C, NM_000132.4:c.5964_5967dupGGAG, NM_000132.4:c.5960_5961delAA, NM_000132.4:c.5953delC, NM_000132.4:c.5954G>C, NM_000132.4:c.5939A>C, NM_000132.4:c.5934T>G, NM_000132.4:c.5923dupA, NM_000132.4:c.5924T>A, NM_000132.4:c.5914_5915delAT, NM_000132.4:c.5894G>T, NM_000132.4:c.5891T>C, NM_000132.4:c.5888T>C, NM_000132.4:c.5884T>G, NM_000132.4:c.5881T>A, NM_000132.4:c.5879G>T, NM_000132.4:c.5869C>T, NM_000132.4:c.5861_5866delCTCAGG, NM_000132.4:c.5853A>C, NM_000132.4:c.5833A>G, NM_000132.4:c.5825G>T, NM_000132.4:c.5816C>T, NM_000132.4:c.5816C>A, NM_000132.4:c.5766C>A, NM_000132.4:c.5752delT, NM_000132.4:c.5721C>G, NM_000132.4:c.5719dupA, NM_000132.4:c.5719A>T, NM_000132.4:c.5712G>C, NM_000132.4:c.5697delC, NM_000132.4:c.5696dupT, NM_000132.4:c.5689_5690delCT, NM_000132.4:c.5686G>C, NM_000132.4:c.5680G>A, NM_000132.4:c.5675dupT, NM_000132.4:c.5674G>A, NM_000132.4:c.5348_5357delGAGCAGAAGT, NM_000132.4:c.5345T>G, NM_000132.4:c.5343T>A, NM_000132.4:c.5339C>T, NM_000132.4:c.5337delG, NM_000132.4:c.5330T>C, NM_000132.4:c.5321A>T, NM_000132.4:c.5308G>A, NM_000132.4:c.5301C>A, NM_000132.4:c.5291A>G, NM_000132.4:c.5271delT, NM_000132.4:c.5269T>C, NM_000132.4:c.5254delG, NM_000132.4:c.5251A>T, NM_000132.4:c.5243delA, NM_000132.4:c.5227_5228delAG, NM_000132.4:c.5220-1G>A, NM_000132.4:c.5012G>A, NM_000132.4:c.5010delT, NM_000132.4:c.4999delC, NM_000132.4:c.4996C>T, NM_000132.4:c.4987A>T, NM_000132.4:c.4979C>T, NM_000132.4:c.4969C>T, NM_000132.4:c.4942C>T, NM_000132.4:c.4935G>A, NM_000132.4:c.4934G>A, NM_000132.4:c.4926delA, NM_000132.4:c.4925A>G, NM_000132.4:c.4922dupT, NM_000132.4:c.4918G>T, NM_000132.4:c.4899delT, NM_000132.4:c.4895dupT, NM_000132.4:c.4895delT, NM_000132.4:c.4864G>A, NM_000132.4:c.4858delC, NM_000132.4:c.4848delC, NM_000132.4:c.4841delA, NM_000132.4:c.4828G>T, NM_000132.4:c.4814C>A, NM_000132.4:c.4806delA, NM_000132.4:c.4805_4806delAA, NM_000132.4:c.4798A>T, NM_000132.4:c.4794G>T, NM_000132.4:c.4770T>A, NM_000132.4:c.4719_4729delTGCAAAGACTC, NM_000132.4:c.4720delG, NM_000132.4:c.4712_4715delAAAG, NM_000132.4:c.4697_4701dupTGAGA, NM_000132.4:c.4694_4697delTTCT, NM_000132.4:c.4687delG, NM_000132.4:c.4686delA, NM_000132.4:c.4672_4675delAACA, NM_000132.4:c.4662_4663delGA, NM_000132.4:c.4658delA, NM_000132.4:c.4619delT, NM_000132.4:c.4561C>T, NM_000132.4:c.4549_4550delGT, NM_000132.4:c.4543_4544delCCinsA, NM_000132.4:c.4542delT, NM_000132.4:c.4531G>A, NM_000132.4:c.4519delA, NM_000132.4:c.4512delG, NM_000132.4:c.4492_4496delGTTCT, NM_000132.4:c.4492_4493delGT, NM_000132.4:c.4492delG, NM_000132.4:c.4483delG, NM_000132.4:c.4483G>T, NM_000132.4:c.4474A>T, NM_000132.4:c.4473C>G, NM_000132.4:c.4473C>A, NM_000132.4:c.4460delA, NM_000132.4:c.4450delA, NM_000132.4:c.4446dupG, NM_000132.4:c.4430_4431delAG, NM_000132.4:c.4425_4426delAA, NM_000132.4:c.4423C>T, NM_000132.4:c.4408G>T, NM_000132.4:c.4382_4383delAC, NM_000132.4:c.4363C>T, NM_000132.4:c.4345delG, NM_000132.4:c.4345G>T, NM_000132.4:c.4339delG, NM_000132.4:c.4339dupG, NM_000132.4:c.4318delT, NM_000132.4:c.4296_4300delTTCTC, NM_000132.4:c.4280delT, NM_000132.4:c.4272delC, NM_000132.4:c.4265_4266delAT, NM_000132.4:c.4242dupA, NM_000132.4:c.4241C>A, NM_000132.4:c.4201C>T, NM_000132.4:c.4199delC, NM_000132.4:c.4156C>T, NM_000132.4:c.4103delC, NM_000132.4:c.4094_4100delATTTGAC, NM_000132.4:c.4072C>T, NM_000132.4:c.4035delA, NM_000132.4:c.4006C>T, NM_000132.4:c.3994_3997delAGAG, NM_000132.4:c.3991_3992delAA, NM_000132.4:c.3984dupA, NM_000132.4:c.3982C>T, NM_000132.4:c.3967C>T, NM_000132.4:c.3964C>T, NM_000132.4:c.3940A>C, NM_000132.4:c.3922G>T, NM_000132.4:c.3913C>T, NM_000132.4:c.3907_3911delACCAA, NM_000132.4:c.3902delA, NM_000132.4:c.3887delT, NM_000132.4:c.3863dupC, NM_000132.4:c.3860delT, NM_000132.4:c.3851_3852delCA, NM_000132.4:c.3844A>T, NM_000132.4:c.3833delA, NM_000132.4:c.3830delC, NM_000132.4:c.3827C>G, NM_000132.4:c.3772delT, NM_000132.4:c.3766G>T, NM_000132.4:c.3756delG, NM_000132.4:c.3736delC, NM_000132.4:c.3735_3736delCCinsATTTCT, NM_000132.4:c.3710delC, NM_000132.4:c.3652delG, NM_000132.4:c.3651delA, NM_000132.4:c.3631A>T, NM_000132.4:c.3624delT, NM_000132.4:c.3607G>T, NM_000132.4:c.3565dupA, NM_000132.4:c.3548_3549delAA, NM_000132.4:c.3540delA, NM_000132.4:c.3505delG, NM_000132.4:c.3500dupA, NM_000132.4:c.3496A>T, NM_000132.4:c.3493G>T, NM_000132.4:c.3490delT, NM_000132.4:c.3421C>T, NM_000132.4:c.3417dupT, NM_000132.4:c.3416_3417delCT, NM_000132.4:c.3409_3410delCT, NM_000132.4:c.3402delG, NM_000132.4:c.3385delC, NM_000132.4:c.3371C>A, NM_000132.4:c.3344delT, NM_000132.4:c.3302_3303delAG, NM_000132.4:c.3300delA, NM_000132.4:c.3298A>T, NM_000132.4:c.3289C>T, NM_000132.4:c.3279G>A, NM_000132.4:c.3255_3258delTAAA, NM_000132.4:c.3251C>G, NM_000132.4:c.3224delC, NM_000132.4:c.3203_3204delGA, NM_000132.4:c.3196C>T, NM_000132.4:c.3168_3187delTGAGTTTAAAAAAGTGACAC, NM_000132.4:c.3152delT, NM_000132.4:c.3150_3151insTC, NM_000132.4:c.3053delA, NM_000132.4:c.3034G>C, NM_000132.4:c.3031A>T, NM_000132.4:c.2462_2463delGG, NM_000132.4:c.2412_2421delCTCCTCTAGT, NM_000132.4:c.2419dupA, NM_000132.4:c.2409delT, NM_000132.4:c.2404C>T, NM_000132.4:c.2397delT, NM_000132.4:c.2384_2388delGAACA, NM_000132.4:c.2383A>G, NM_000132.4:c.2373dupG, NM_000132.4:c.2360delA, NM_000132.4:c.2338delA, NM_000132.4:c.2102_2106delTGGAA, NM_000132.4:c.2097G>A, NM_000132.4:c.2096T>A, NM_000132.4:c.2095A>T, NM_000132.4:c.2095A>G, NM_000132.4:c.2095A>C, NM_000132.4:c.2089_2090delGT, NM_000132.4:c.2090T>A, NM_000132.4:c.2072C>T, NM_000132.4:c.2071C>A, NM_000132.4:c.2066T>G, NM_000132.4:c.2058_2059delAC, NM_000132.4:c.2060T>C, NM_000132.4:c.2057C>G, NM_000132.4:c.2032A>T, NM_000132.4:c.2029T>C, NM_000132.4:c.2015_2017delTCT, NM_000132.4:c.2000delT, NM_000132.4:c.1996_1999delGACT, NM_000132.4:c.1996_1999dupGACT, NM_000132.4:c.1990_1991delCA, NM_000132.4:c.1991A>C, NM_000132.4:c.1988C>T, NM_000132.4:c.1985G>C, NM_000132.4:c.1952A>C, NM_000132.4:c.1947_1950delTTTG, NM_000132.4:c.1941_1944delAGTT, NM_000132.4:c.1934A>C, NM_000132.4:c.1925_1928delATAG, NM_000132.4:c.1913G>A, NM_000132.4:c.1912G>A, NM_000132.4:c.1904-1G>A, NM_000132.4:c.1904-37G>A, NM_000132.4:c.1752+5G>C, NM_000132.4:c.1736A>T, NM_000132.4:c.1726G>T, NM_000132.4:c.1703G>T, NM_000132.4:c.1688C>G, NM_000132.4:c.1682A>C, NM_000132.4:c.1681G>A, NM_000132.4:c.1675G>T, NM_000132.4:c.1667T>A, NM_000132.4:c.1661G>A, NM_000132.4:c.1653T>G, NM_000132.4:c.1640G>A, NM_000132.4:c.1639T>C, NM_000132.4:c.1630G>A, NM_000132.4:c.1619C>G, NM_000132.4:c.1618C>A, NM_000132.4:c.1596dupG, NM_000132.4:c.1596G>A, NM_000132.4:c.1595G>A, NM_000132.4:c.1594T>G, NM_000132.4:c.1585A>G, NM_000132.4:c.1560delT, NM_000132.4:c.1538-1G>T, NM_000132.4:c.1538-2A>T, NM_000132.4:c.1477A>G, NM_000132.4:c.1467_1472dupCAGACC, NM_000132.4:c.1463C>T, NM_000132.4:c.1463C>G, NM_000132.4:c.1443+3A>C, NM_000132.4:c.1443+2T>C, NM_000132.4:c.1442_1443dupTG, NM_000132.4:c.1443+1G>A, NM_000132.4:c.1440_1441insA, NM_000132.4:c.1438_1439delCT, NM_000132.4:c.1432G>A, NM_000132.4:c.1420G>T, NM_000132.4:c.1410_1413delTTTA, NM_000132.4:c.1406G>C, NM_000132.4:c.1400T>G, NM_000132.4:c.1397G>A, NM_000132.4:c.1394C>G, NM_000132.4:c.1390G>T, NM_000132.4:c.1357G>T, NM_000132.4:c.1348T>G, NM_000132.4:c.1338delA, NM_000132.4:c.1336dupC, NM_000132.4:c.1337G>C, NM_000132.4:c.1337G>A, NM_000132.4:c.1331_1332delAA, NM_000132.4:c.1331A>C, NM_000132.4:c.1325A>G, NM_000132.4:c.1324T>C, NM_000132.4:c.1324T>A, NM_000132.4:c.1316G>A, NM_000132.4:c.1311delG, NM_000132.4:c.1301G>A, NM_000132.4:c.1293delG, NM_000132.4:c.1234T>C, NM_000132.4:c.1214T>G, NM_000132.4:c.1207C>G, NM_000132.4:c.1203G>A, NM_000132.4:c.1200_1201delTT, NM_000132.4:c.1202G>A, NM_000132.4:c.1189dupC, NM_000132.4:c.1187A>T, NM_000132.4:c.1175C>G, NM_000132.4:c.1175C>A, NM_000132.4:c.1172G>C, NM_000132.4:c.1165delC, NM_000132.4:c.1090G>A, NM_000132.4:c.1086G>A, NM_000132.4:c.1077_1080delTGAA, NM_000132.4:c.1078_1079delGA, NM_000132.4:c.1042T>C, NM_000132.4:c.986G>T, NM_000132.4:c.985dupT, NM_000132.4:c.985delT, NM_000132.4:c.986G>C, NM_000132.4:c.986G>A, NM_000132.4:c.974_975delTT, NM_000132.4:c.967G>A, NM_000132.4:c.948_951delAACA, NM_000132.4:c.943delG, NM_000132.4:c.941C>T, NM_000132.4:c.935delT, NM_000132.4:c.919delA, NM_000132.4:c.920T>G, NM_000132.4:c.912C>T, NM_000132.4:c.907delG, NM_000132.4:c.902G>C, NM_000132.4:c.899A>T, NM_000132.4:c.899A>C, NM_000132.4:c.889delG, NM_000132.4:c.886C>T, NM_000132.4:c.883T>C, NM_000132.4:c.872A>G, NM_000132.4:c.871G>T, NM_000132.4:c.850G>T, NM_000132.4:c.849delT, NM_000132.4:c.850G>A, NM_000132.4:c.836T>A, NM_000132.4:c.832G>A, NM_000132.4:c.824A>G, NM_000132.4:c.822G>A, NM_000132.4:c.820T>C, NM_000132.4:c.796G>T, NM_000132.4:c.788-1G>T, NM_000132.4:c.788-1G>C, NM_000132.4:c.788-1G>A, NM_000132.4:c.788-2A>T, NM_000132.4:c.787+2T>C, NM_000132.4:c.787G>C, NM_000132.4:c.779C>G, NM_000132.4:c.775A>T, NM_000132.4:c.770_771insCC, NM_000132.4:c.764G>A, NM_000132.4:c.760A>T, NM_000132.4:c.755C>A, NM_000132.4:c.729delT, NM_000132.4:c.709C>T, NM_000132.4:c.695_698delAGAA, NM_000132.4:c.688_689delGA, NM_000132.4:c.685_686delTC, NM_000132.4:c.680G>A, NM_000132.4:c.676A>T, NM_000132.4:c.589_591delGTA, NM_000132.4:c.577G>A, NM_000132.4:c.571C>T, NM_000132.4:c.566C>A, NM_000132.4:c.557_559delACT, NM_000132.4:c.560T>A, NM_000132.4:c.557A>G, NM_000132.4:c.556G>A, NM_000132.4:c.553A>G, NM_000132.4:c.545A>T, NM_000132.4:c.535T>C, NM_000132.4:c.532C>G, NM_000132.4:c.525C>A, NM_000132.4:c.519_523delTACCT, NM_000132.4:c.514_515insTCAAGATA, NM_000132.4:c.515G>A, NM_000132.4:c.514T>C, NM_000132.4:c.493C>T, NM_000132.4:c.489T>A, NM_000132.4:c.476T>C, NM_000132.4:c.472C>T, NM_000132.4:c.471G>A, NM_000132.4:c.440_448dupTCTTCCCTG, NM_000132.4:c.446delC, NM_000132.4:c.440T>A, NM_000132.4:c.435_436insTTT, NM_000132.4:c.433G>C, NM_000132.4:c.430G>T, NM_000132.4:c.421G>T, NM_000132.4:c.415C>T, NM_000132.4:c.407A>C, NM_000132.4:c.405T>A, NM_000132.4:c.404A>G, NM_000132.4:c.403G>A, NM_000132.4:c.265+1G>T, NM_000132.4:c.265G>A, NM_000132.4:c.255_257delACC, NM_000132.4:c.250_255delAGGCCA, NM_000132.4:c.250A>G, NM_000132.4:c.230T>C, NM_000132.4:c.224delA, NM_000132.4:c.225T>A, NM_000132.4:c.223G>T, NM_000132.4:c.217T>C, NM_000132.4:c.214G>A, NM_000132.4:c.209T>C, NM_000132.4:c.202_207delACTCTG, NM_000132.4:c.201_202dupGA, NM_000132.4:c.203C>A, NM_000132.4:c.201G>T, NM_000132.4:c.199_200delAA, NM_000132.4:c.200A>C, NM_000132.4:c.199A>G, NM_000132.4:c.195C>A, NM_000132.4:c.185C>G, NM_000132.4:c.173delC, NM_000132.4:c.144-5C>G, NM_000132.4:c.144-11T>G, NM_000132.4:c.144-26A>T, NM_000132.4:c.143+1G>A, NM_000132.4:c.128dupT, NM_000132.4:c.120delC, NM_000132.4:c.98G>A, NM_000132.4:c.97T>G, NM_000132.4:c.88G>A, NM_000132.4:c.86T>G, NM_000132.4:c.77T>C, NM_000132.4:c.73delT, NM_000132.4:c.65G>C, NM_000132.4:c.1A>G
DISEASES
VARIANTS
NM_000133.4:c.19A>T, NM_000133.4:c.52T>C, NM_000133.4:c.79G>A, NM_000133.4:c.80A>T, NM_000133.4:c.82T>C, NM_000133.4:c.1031T>C, NM_000133.4:c.1136G>A, NM_000133.4:c.1150C>T
DISEASES
VARIANTS
NM_000137.4:c.47A>T, NM_000137.4:c.103G>A, NM_000137.4:c.192G>T, NM_000137.4:c.401C>A, NM_000137.4:c.456G>A, NM_000137.4:c.554-1G>T, NM_000137.4:c.607-6T>G, NM_000137.4:c.707-1G>A, NM_000137.4:c.782C>T, NM_000137.4:c.786G>A, NM_000137.4:c.837+1G>A, NM_000137.4:c.938delC, NM_000137.4:c.982C>T, NM_000137.4:c.1009G>A, NM_000137.4:c.1021C>T, NM_000137.4:c.1027G>T, NM_000137.4:c.1062+5G>A, NM_000137.4:c.1069G>T, NM_000137.4:c.1090G>T, NM_000137.4:c.1141A>G
DISEASES
VARIANTS
NM_000135.4:c.4130C>G, NM_000135.4:c.3788_3790delTCT, NM_000135.4:c.3763G>T, NM_000135.4:c.3558dupG, NM_000135.4:c.2303T>C, NM_000135.4:c.1115_1118delTTGG, NM_000135.4:c.233_236delTTGA
DISEASES
VARIANTS
NM_000136.3:c.1642C>T, NM_000136.3:c.1487T>G, NM_000136.3:c.1103_1104delTG, NM_000136.3:c.1015delA, NM_000136.3:c.996+1G>T, NM_000136.3:c.416G>A, NM_000136.3:c.67delG, NM_000136.3:c.37C>T
DISEASES
VARIANTS
NM_004629.2:c.1852_1853delAA, NM_004629.2:c.1795_1804delTGGATCCGTC, NM_004629.2:c.1480+1G>C, NM_004629.2:c.1077-2A>G, NM_004629.2:c.907_908dupCT, NM_004629.2:c.637_643delTACCGCC, NM_004629.2:c.510+1G>A, NM_004629.2:c.313G>T
DISEASES
VARIANTS
NM_000143.4:c.1446_1449delAAAG, NM_000143.4:c.1431_1433dupAAA, NM_000143.4:c.1394A>G, NM_000143.4:c.1293delA, NM_000143.4:c.1255T>C, NM_000143.4:c.1236+1G>C, NM_000143.4:c.1200delT, NM_000143.4:c.1189G>A, NM_000143.4:c.1093A>G, NM_000143.4:c.1067T>A, NM_000143.4:c.901dupA, NM_000143.4:c.793G>A, NM_000143.4:c.760C>T, NM_000143.4:c.698G>A, NM_000143.4:c.697C>T, NM_000143.4:c.521C>G, NM_000143.4:c.320A>C, NM_000143.4:c.40dupC
DISEASES
VARIANTS
NM_024301.5:c.160C>T, NM_024301.5:c.235G>A, NM_024301.5:c.1154C>A, NM_024301.5:c.1343C>T, NM_024301.5:c.1387A>G
DISEASES
VARIANTS
NM_001079802.2:c.411C>A, NM_001079802.2:c.509C>A, NM_001079802.2:c.1112A>G
DISEASES
VARIANTS
Premutation allele (CGG)n
DISEASES
VARIANTS
NM_000151.4:c.47C>G, NM_000151.4:c.113A>T, NM_000151.4:c.229T>C, NM_000151.4:c.230+1G>C, NM_000151.4:c.247C>T, NM_000151.4:c.248G>A, NM_000151.4:c.370G>A, NM_000151.4:c.376_377insTA, NM_000151.4:c.447-1G>A, NM_000151.4:c.497T>G, NM_000151.4:c.508C>T, NM_000151.4:c.551G>A, NM_000151.4:c.562G>C, NM_000151.4:c.626A>G, NM_000151.4:c.883C>T, NM_000151.4:c.1039C>T
DISEASES
VARIANTS
NM_000152.5:c.118C>T, NM_000152.5:c.307T>G, NM_000152.5:c.525delT, NM_000152.5:c.546_546+3delGGTG, NM_000152.5:c.546G>A, NM_000152.5:c.546G>C, NM_000152.5:c.655G>A, NM_000152.5:c.697delA, NM_000152.5:c.710C>T, NM_000152.5:c.767_768insT, NM_000152.5:c.853C>T, NM_000152.5:c.877G>A, NM_000152.5:c.925G>A, NM_000152.5:c.953T>C, NM_000152.5:c.1064T>C, NM_000152.5:c.1115A>T, NM_000152.5:c.1316T>A, NM_000152.5:c.1327-2A>G, NM_000152.5:c.1407_1409delCAA, NM_000152.5:c.1430delT, NM_000152.5:c.1445C>T, NM_000152.5:c.1465G>A, NM_000152.5:c.1548G>A, NM_000152.5:c.1552-3C>G, NM_000152.5:c.1561G>A, NM_000152.5:c.1585_1586delTCinsGT, NM_000152.5:c.1634C>T, NM_000152.5:c.1644_1645insG, NM_000152.5:c.1799G>A, NM_000152.5:c.1827_1828insA, NM_000152.5:c.1846_1847insA, NM_000152.5:c.1912G>T, NM_000152.5:c.1927G>A, NM_000152.5:c.1933G>T, NM_000152.5:c.1935C>A, NM_000152.5:c.2012T>G, NM_000152.5:c.2015G>A, NM_000152.5:c.2041-1G>A, NM_000152.5:c.2063_2064insCGAGC, NM_000152.5:c.2105G>T, NM_000152.5:c.2237G>A, NM_000152.5:c.2238G>A, NM_000152.5:c.2238G>C, NM_000152.5:c.2512C>T, NM_000152.5:c.2543delC, NM_000152.5:c.2560C>T
DISEASES
VARIANTS
NM_000153.4:c.2056T>C, NM_000153.4:c.1964delC, NM_000153.4:c.1814dupA, NM_000153.4:c.1796T>G, NM_000153.4:c.1723_1724insT, NM_000153.4:c.1700A>C, NM_000153.4:c.1695delT, NM_000153.4:c.1592G>A, NM_000153.4:c.1591C>T, NM_000153.4:c.1586C>T, NM_000153.4:c.1543G>A, NM_000153.4:c.1489+2_1489+3delTG, NM_000153.4:c.1488_1489+2delTGGT, NM_000153.4:c.1488_1489delTG, NM_000153.4:c.1472delA, NM_000153.4:c.1161+2T>G, NM_000153.4:c.1153G>T, NM_000153.4:c.1004A>G, NM_000153.4:c.953C>G, NM_000153.4:c.658C>T, NM_000153.4:c.655C>T, NM_000153.4:c.628A>T, NM_000153.4:c.582+1G>A, NM_000153.4:c.453G>A, NM_000153.4:c.430delA, NM_000153.4:c.388G>A, NM_000153.4:c.334A>G, NM_000153.4:c.332G>A, NM_000153.4:c.236G>A, NM_000153.4:c.205C>T
DISEASES
VARIANTS
NM_000155.4:c.17delC, NM_000155.4:c.41delCinsTT, NM_000155.4:c.71_72insA, NM_000155.4:c.113A>C, NM_000155.4:c.118G>T, NM_000155.4:c.130G>A, NM_000155.4:c.132delG, NM_000155.4:c.143G>C, NM_000155.4:c.152G>A, NM_000155.4:c.158G>A, NM_000155.4:c.199C>T, NM_000155.4:c.200G>A, NM_000155.4:c.203A>C, NM_000155.4:c.218_219delCT, NM_000155.4:c.221T>C, NM_000155.4:c.253-2A>G, NM_000155.4:c.265T>G, NM_000155.4:c.287_289delACA, NM_000155.4:c.290A>G, NM_000155.4:c.292G>A, NM_000155.4:c.329-2A>C, NM_000155.4:c.367C>T, NM_000155.4:c.377+7A>C, NM_000155.4:c.386T>C, NM_000155.4:c.400delT, NM_000155.4:c.404C>T, NM_000155.4:c.413C>T, NM_000155.4:c.416T>G, NM_000155.4:c.425T>A, NM_000155.4:c.428C>T, NM_000155.4:c.442C>T, NM_000155.4:c.443G>A, NM_000155.4:c.443G>C, NM_000155.4:c.501_503delGGT, NM_000155.4:c.505C>A, NM_000155.4:c.508-1G>C, NM_000155.4:c.510C>A, NM_000155.4:c.512T>C, NM_000155.4:c.547C>A, NM_000155.4:c.552C>A, NM_000155.4:c.563A>G, NM_000155.4:c.565-3_575delCAGGTATGGGCCAG, NM_000155.4:c.568T>C, NM_000155.4:c.580T>C, NM_000155.4:c.584T>C, NM_000155.4:c.596delC, NM_000155.4:c.601C>T, NM_000155.4:c.602G>A, NM_000155.4:c.607G>A, NM_000155.4:c.610C>T, NM_000155.4:c.617A>G, NM_000155.4:c.619C>T, NM_000155.4:c.626A>G, NM_000155.4:c.634C>T, NM_000155.4:c.688-2A>C, NM_000155.4:c.692G>A, NM_000155.4:c.713_722delACTGGTTAGT, NM_000155.4:c.772C>T, NM_000155.4:c.775C>T, NM_000155.4:c.790delC, NM_000155.4:c.790_792delCTAinsTAG, NM_000155.4:c.793C>G, NM_000155.4:c.823C>G, NM_000155.4:c.844C>G, NM_000155.4:c.855G>T, NM_000155.4:c.904+1G>T, NM_000155.4:c.905-2A>G, NM_000155.4:c.907G>A, NM_000155.4:c.939G>A, NM_000155.4:c.947G>A, NM_000155.4:c.957C>A, NM_000155.4:c.985T>C, NM_000155.4:c.997C>G, NM_000155.4:c.997C>T, NM_000155.4:c.998G>A, NM_000155.4:c.1006A>T, NM_000155.4:c.1030C>A, NM_000155.4:c.1048delA, NM_000155.4:c.1049delC, NM_000155.4:c.1138T>C
DISEASES
VARIANTS
NM_000156.6:c.590T>C, NM_000156.6:c.506G>A
DISEASES
VARIANTS
NM_000158.4:c.2052+1G>A, NM_000158.4:c.1883A>G, NM_000158.4:c.1774G>T, NM_000158.4:c.1604A>G, NM_000158.4:c.1571G>A, NM_000158.4:c.1570C>T, NM_000158.4:c.1543C>T, NM_000158.4:c.986A>G, NM_000158.4:c.986A>C, NM_000158.4:c.771T>A, NM_000158.4:c.466_470delCGTAT
DISEASES
VARIANTS
NM_000159.4:c.74C>A, NM_000159.4:c.271+1G>A, NM_000159.4:c.383G>A, NM_000159.4:c.416C>T, NM_000159.4:c.442G>A, NM_000159.4:c.542A>G, NM_000159.4:c.572T>C, NM_000159.4:c.636-1G>A, NM_000159.4:c.680G>C, NM_000159.4:c.743C>T, NM_000159.4:c.751C>T, NM_000159.4:c.764C>T, NM_000159.4:c.769C>T, NM_000159.4:c.877G>A, NM_000159.4:c.883T>C, NM_000159.4:c.914C>T, NM_000159.4:c.947C>A, NM_000159.4:c.1001_1002delAG, NM_000159.4:c.1015A>G, NM_000159.4:c.1060G>A, NM_000159.4:c.1060G>C, NM_000159.4:c.1093G>A, NM_000159.4:c.1148G>A, NM_000159.4:c.1168G>C, NM_000159.4:c.1198G>A, NM_000159.4:c.1198_1199insT, NM_000159.4:c.1204C>T, NM_000159.4:c.1244-2A>C, NM_000159.4:c.1247C>T, NM_000159.4:c.1262C>T
DISEASES
VARIANTS
varname
DISEASES
VARIANTS
NM_024996.7:c.139C>T, NM_024996.7:c.521A>G, NM_024996.7:c.748C>T, NM_024996.7:c.1294_1297delACAG, NM_024996.7:c.1528_1529delAG
DISEASES
VARIANTS
NM_004004.6:c.617A>G, NM_004004.6:c.557C>T, NM_004004.6:c.551G>C, NM_004004.6:c.550C>T, NM_004004.6:c.516G>A, NM_004004.6:c.503A>G, NM_004004.6:c.465T>A, NM_004004.6:c.439G>A, NM_004004.6:c.427C>T, NM_004004.6:c.416G>A, NM_004004.6:c.413G>A, NM_004004.6:c.402delG, NM_004004.6:c.380G>A, NM_004004.6:c.365A>T, NM_004004.6:c.358_360delGAG, NM_004004.6:c.334_335delAA, NM_004004.6:c.313_326delAAGTTCATCAAGGG, NM_004004.6:c.310_323delAGGAAGTTCATCAA, NM_004004.6:c.299_300delAT, NM_004004.6:c.299A>T, NM_004004.6:c.270dupA, NM_004004.6:c.269dupT, NM_004004.6:c.269T>C, NM_004004.6:c.250G>T, NM_004004.6:c.250G>C, NM_004004.6:c.249C>G, NM_004004.6:c.241C>G, NM_004004.6:c.239A>C, NM_004004.6:c.238C>T, NM_004004.6:c.235delC, NM_004004.6:c.231G>A, NM_004004.6:c.230G>A, NM_004004.6:c.229T>C, NM_004004.6:c.227T>C, NM_004004.6:c.176_191delGCTGCAAGAACGTGTG, NM_004004.6:c.169C>T, NM_004004.6:c.139G>T, NM_004004.6:c.132G>A, NM_004004.6:c.35delG
DISEASES
VARIANTS
NM_024009.3:c.94C>T, NM_024009.3:c.529T>G, NM_024009.3:c.580G>A
DISEASES
VARIANTS
NM_001110219.3:c.689dupA, NM_001110219.3:c.485dupA, NM_001110219.3:c.443delC, NM_001110219.3:c.383_384delTA, NM_001110219.3:c.261dupA, NM_001110219.3:c.169C>T, NM_001110219.3:c.14C>T, CNV deletions
DISEASES
VARIANTS
NM_000404.4:c.1733A>G, NM_000404.4:c.1646C>T, NM_000404.4:c.1577dupG, NM_000404.4:c.1549G>T, NM_000404.4:c.1456_1466dupGGTGCATATAT, NM_000404.4:c.1452C>G, NM_000404.4:c.1445G>A, NM_000404.4:c.1444C>T, NM_000404.4:c.1370G>A, NM_000404.4:c.1369C>T, NM_000404.4:c.1355dupA, NM_000404.4:c.1325G>A, NM_000404.4:c.1321G>A, NM_000404.4:c.1313G>A, NM_000404.4:c.1310A>T, NM_000404.4:c.1223A>C, NM_000404.4:c.1174_1175delCT, NM_000404.4:c.1068+1G>T, NM_000404.4:c.1051C>T, NM_000404.4:c.1004C>T, NM_000404.4:c.947A>G, NM_000404.4:c.901G>A, NM_000404.4:c.818G>T, NM_000404.4:c.817T>C, NM_000404.4:c.622C>T, NM_000404.4:c.602G>A, NM_000404.4:c.601C>T, NM_000404.4:c.591dupT, NM_000404.4:c.457+2T>C, NM_000404.4:c.442C>T, NM_000404.4:c.442C>A, NM_000404.4:c.438_440delTCT, NM_000404.4:c.276G>A, NM_000404.4:c.202C>T, NM_000404.4:c.176G>A, NM_000404.4:c.175C>T, NM_000404.4:c.171C>G, NM_000404.4:c.152T>C, NM_000404.4:c.145C>T
DISEASES
VARIANTS
NM_000170.3:c.2405C>T, NM_000170.3:c.2284G>A, NM_000170.3:c.2216G>A, NM_000170.3:c.2113G>A, NM_000170.3:c.1705G>A, NM_000170.3:c.1691G>T, NM_000170.3:c.1545G>C, NM_000170.3:c.1229G>A, NM_000170.3:c.1166C>T, NM_000170.3:c.322G>T
DISEASES
VARIANTS
NM_001003722.2:c.898-2A>G, NM_001003722.2:c.1412_1413delAG, NM_001003722.2:c.1807C>T, NM_001003722.2:c.2051T>C, NM_001003722.2:c.2067_2070delCTTT
DISEASES
VARIANTS
NM_001128227.3:c.2228T>C, NM_001128227.3:c.2179G>T, NM_001128227.3:c.2179G>A, NM_001128227.3:c.2116T>C, NM_001128227.3:c.2086G>A, NM_001128227.3:c.1937C>G, NM_001128227.3:c.1891G>A, NM_001128227.3:c.1820G>A, NM_001128227.3:c.1807G>T, NM_001128227.3:c.1002T>A, NM_001128227.3:c.880C>T, NM_001128227.3:c.830G>A, NM_001128227.3:c.766G>A, NM_001128227.3:c.478C>T
DISEASES
VARIANTS
NM_024312.5:c.3663delG, NM_024312.5:c.3598G>A, NM_024312.5:c.3565C>T, NM_024312.5:c.3560_3561delAG, NM_024312.5:c.3503_3504delTC, NM_024312.5:c.3410T>A, NM_024312.5:c.3326dupA, NM_024312.5:c.3173C>G, NM_024312.5:c.2896delA, NM_024312.5:c.2383delG, NM_024312.5:c.1931C>T, NM_024312.5:c.1906dupA, NM_024312.5:c.1759C>T, NM_024312.5:c.1196C>T, NM_024312.5:c.1000C>T, NM_024312.5:c.749dupA, NM_024312.5:c.732_733delAA, NM_024312.5:c.648_651delAGAA, NM_024312.5:c.616_619delACAG, NM_024312.5:c.99delC, NM_024312.5:c.25C>T
DISEASES
VARIANTS
NM_002076.4:c.1226dupG, NM_002076.4:c.1169delA, NM_002076.4:c.1168C>T, NM_002076.4:c.1063C>T, NM_002076.4:c.413C>G
DISEASES
VARIANTS
NM_012203.2:c.101delG, NM_012203.2:c.295C>T, NM_012203.2:c.435G>A, NM_012203.2:c.622C>T
DISEASES
VARIANTS
NM_000180.4:c.456C>A, NM_000180.4:c.620delC, NM_000180.4:c.1694T>C, NM_000180.4:c.2734_2735delTT, NM_000180.4:c.2945-1delG
DISEASES
VARIANTS
NM_000181.4:c.1881G>T, NM_000181.4:c.1856C>T, NM_000181.4:c.1831C>T, NM_000181.4:c.1730G>T, NM_000181.4:c.1618G>T, NM_000181.4:c.1534G>A, NM_000181.4:c.1521G>A, NM_000181.4:c.1429C>T, NM_000181.4:c.1338G>A, NM_000181.4:c.1337G>A, NM_000181.4:c.1244+1G>A, NM_000181.4:c.1244C>T, NM_000181.4:c.1222C>T, NM_000181.4:c.1219_1220insC, NM_000181.4:c.1144C>T, NM_000181.4:c.1084G>A, NM_000181.4:c.1065+1G>T, NM_000181.4:c.1061C>T, NM_000181.4:c.1050G>C, NM_000181.4:c.866G>A, NM_000181.4:c.820_821delAC, NM_000181.4:c.646C>T, NM_000181.4:c.526C>T, NM_000181.4:c.499C>T, NM_000181.4:c.442C>T
DISEASES
VARIANTS
NM_000182.5:c.2146+1G>A, NM_000182.5:c.2132dupC, NM_000182.5:c.2131C>A, NM_000182.5:c.2027G>A, NM_000182.5:c.1918C>T, NM_000182.5:c.1793_1794delAT, NM_000182.5:c.1678C>T, NM_000182.5:c.1644delC, NM_000182.5:c.1620+2_1620+6delTAAGG, NM_000182.5:c.1528G>C, NM_000182.5:c.1422dupT, NM_000182.5:c.1132C>T, NM_000182.5:c.919-2A>G, NM_000182.5:c.845T>A, NM_000182.5:c.499delA, NM_000182.5:c.274_278delTCATC
DISEASES
VARIANTS
NM_000183.3:c.788A>G, NM_000183.3:c.1331G>A, NM_000183.3:c.1364T>G
DISEASES
VARIANTS
--MED ; --SEA ; --THAI ; - α3.7 ; - α4.2 ; - α20.5 ; --FIL
DISEASES
VARIANTS
NM_000518.5:c.*110_*114delTAAAA, NM_000518.5:c.*113A>G, NM_000518.5:c.*112A>G, NM_000518.5:c.*110_*111delTA, NM_000518.5:c.*111A>G, NM_000518.5:c.*110T>C, NM_000518.5:c.*6C>G, NM_000518.5:c.440_441dupAC, NM_000518.5:c.440A>T, NM_000518.5:c.440A>C, NM_000518.5:c.439C>G, NM_000518.5:c.438T>A, NM_000518.5:c.437A>G, NM_000518.5:c.436T>C, NM_000518.5:c.436T>A, NM_000518.5:c.435G>C, NM_000518.5:c.431A>C, NM_000518.5:c.428C>A, NM_000518.5:c.421G>A, NM_000518.5:c.415G>C, NM_000518.5:c.410G>A, NM_000518.5:c.404T>A, NM_000518.5:c.397A>G, NM_000518.5:c.380_396delTGCAGGCTGCCTATCAG, NM_000518.5:c.385_388delGCTGinsCCACA, NM_000518.5:c.383_385delAGG, NM_000518.5:c.385G>C, NM_000518.5:c.383A>C, NM_000518.5:c.380T>G, NM_000518.5:c.380T>A, NM_000518.5:c.371_378delCCCCACCA, NM_000518.5:c.370_378delACCCCACCA, NM_000518.5:c.374C>G, NM_000518.5:c.374C>A, NM_000518.5:c.364G>T, NM_000518.5:c.364G>C, NM_000518.5:c.364G>A, NM_000518.5:c.363A>C, NM_000518.5:c.353A>G, NM_000518.5:c.347C>A, NM_000518.5:c.343_344delCTinsG, NM_000518.5:c.344T>C, NM_000518.5:c.341T>A, NM_000518.5:c.337T>C, NM_000518.5:c.332T>C, NM_000518.5:c.328delG, NM_000518.5:c.328G>A, NM_000518.5:c.323dupG, NM_000518.5:c.320T>G, NM_000518.5:c.316-1G>T, NM_000518.5:c.316-1G>C, NM_000518.5:c.316-1G>A, NM_000518.5:c.316-2A>G, NM_000518.5:c.316-2A>C, NM_000518.5:c.316-3C>G, NM_000518.5:c.316-3C>A, NM_000518.5:c.316-7C>G, NM_000518.5:c.316-7C>A, NM_000518.5:c.316-14T>G, NM_000518.5:c.316-90A>G, NM_000518.5:c.316-106C>T, NM_000518.5:c.316-106C>G, NM_000518.5:c.316-125A>G, NM_000518.5:c.316-146T>G, NM_000518.5:c.316-197C>T, NM_000518.5:c.316-238C>T, NM_000518.5:c.315+4_315+5delAG, NM_000518.5:c.315+5G>C, NM_000518.5:c.315+2delT, NM_000518.5:c.315+1delG, NM_000518.5:c.315+2T>G, NM_000518.5:c.315+2T>C, NM_000518.5:c.315+2T>A, NM_000518.5:c.315+1G>T, NM_000518.5:c.315+1G>C, NM_000518.5:c.315+1G>A, NM_000518.5:c.315G>C, NM_000518.5:c.312C>G, NM_000518.5:c.306G>C, NM_000518.5:c.305A>G, NM_000518.5:c.304G>A, NM_000518.5:c.302C>T, NM_000518.5:c.300_301insTCTGAGAA, NM_000518.5:c.299A>T, NM_000518.5:c.299A>G, NM_000518.5:c.299A>C, NM_000518.5:c.298G>T, NM_000518.5:c.298G>C, NM_000518.5:c.298G>A, NM_000518.5:c.292_295dupCACG, NM_000518.5:c.295G>A, NM_000518.5:c.293A>T, NM_000518.5:c.287dupA, NM_000518.5:c.286A>G, NM_000518.5:c.282_283dupTG, NM_000518.5:c.283G>C, NM_000518.5:c.277C>T, NM_000518.5:c.277C>A, NM_000518.5:c.275T>C, NM_000518.5:c.271G>T, NM_000518.5:c.271G>A, NM_000518.5:c.269G>A, NM_000518.5:c.268A>C, NM_000518.5:c.244_265delCTCAAGGGCACCTTTGCCACAC, NM_000518.5:c.266T>C, NM_000518.5:c.263C>T, NM_000518.5:c.258dupT, NM_000518.5:c.257T>C, NM_000518.5:c.253delA, NM_000518.5:c.251delG, NM_000518.5:c.249G>C, NM_000518.5:c.248A>T, NM_000518.5:c.248A>C, NM_000518.5:c.247A>G, NM_000518.5:c.246C>A, NM_000518.5:c.235delC, NM_000518.5:c.230delC, NM_000518.5:c.230C>A, NM_000518.5:c.226delC, NM_000518.5:c.221_224dupATGG, NM_000518.5:c.217_221delAGTGAinsT, NM_000518.5:c.219_220delTG, NM_000518.5:c.220G>A, NM_000518.5:c.217dupA, NM_000518.5:c.216dupT, NM_000518.5:c.216delT, NM_000518.5:c.209G>A, NM_000518.5:c.208G>A, NM_000518.5:c.206T>A, NM_000518.5:c.203_204delTG, NM_000518.5:c.203T>A, NM_000518.5:c.201delA, NM_000518.5:c.199A>G, NM_000518.5:c.196A>C, NM_000518.5:c.189_195delTCATGGC, NM_000518.5:c.194delG, NM_000518.5:c.190C>T, NM_000518.5:c.184A>T, NM_000518.5:c.182T>A, NM_000518.5:c.179A>C, NM_000518.5:c.176delC, NM_000518.5:c.176C>G, NM_000518.5:c.170G>A, NM_000518.5:c.169G>C, NM_000518.5:c.164_168delTTATGinsGGCATCA, NM_000518.5:c.166dupA, NM_000518.5:c.162delT, NM_000518.5:c.155delC, NM_000518.5:c.155C>T, NM_000518.5:c.153delT, NM_000518.5:c.147delG, NM_000518.5:c.143_146dupATCT, NM_000518.5:c.143dupA, NM_000518.5:c.137T>C, NM_000518.5:c.135delC, NM_000518.5:c.134C>G, NM_000518.5:c.130G>T, NM_000518.5:c.127_129delTTT, NM_000518.5:c.126_129delCTTT, NM_000518.5:c.130G>A, NM_000518.5:c.128T>C, NM_000518.5:c.126delC, NM_000518.5:c.127T>G, NM_000518.5:c.127T>C, NM_000518.5:c.114_120delGACCCAG, NM_000518.5:c.117_118delCC, NM_000518.5:c.118C>T, NM_000518.5:c.115delA, NM_000518.5:c.114G>A, NM_000518.5:c.112delT, NM_000518.5:c.113G>A, NM_000518.5:c.110delC, NM_000518.5:c.109C>T, NM_000518.5:c.108C>A, NM_000518.5:c.102_104delGGT, NM_000518.5:c.103G>T, NM_000518.5:c.93-21_96delGGTCTATTTTCCCACCCTTAGGCTG, NM_000518.5:c.93-22_95delTGGTCTATTTTCCCACCCTTAGGCT, NM_000518.5:c.94_95insGGC, NM_000518.5:c.93G>T, NM_000518.5:c.93-17_93-1delTATTTTCCCACCCTTAG, NM_000518.5:c.93-1G>T, NM_000518.5:c.93-1G>C, NM_000518.5:c.93-1G>A, NM_000518.5:c.93-2A>G, NM_000518.5:c.93-2A>C, NM_000518.5:c.93-3T>G, NM_000518.5:c.93-15T>G, NM_000518.5:c.93-21G>A, NM_000518.5:c.93-23T>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.92+5G>T, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+5G>A, NM_000518.5:c.92+2T>G, NM_000518.5:c.92+2T>C, NM_000518.5:c.92+2T>A, NM_000518.5:c.92+1G>T, NM_000518.5:c.92+1G>C, NM_000518.5:c.92+1G>A, NM_000518.5:c.92G>C, NM_000518.5:c.92G>A, NM_000518.5:c.91A>G, NM_000518.5:c.91A>C, NM_000518.5:c.90C>T, NM_000518.5:c.85dupC, NM_000518.5:c.86T>A, NM_000518.5:c.82G>T, NM_000518.5:c.81G>C, NM_000518.5:c.80A>G, NM_000518.5:c.79_80insT, NM_000518.5:c.79G>T, NM_000518.5:c.79G>A, NM_000518.5:c.68_74delAAGTTGG, NM_000518.5:c.75T>A, NM_000518.5:c.71_73delTTG, NM_000518.5:c.70G>T, NM_000518.5:c.70G>A, NM_000518.5:c.68A>C, NM_000518.5:c.64_67delGATG, NM_000518.5:c.67G>T, NM_000518.5:c.67G>C, NM_000518.5:c.64dupG, NM_000518.5:c.61G>A, NM_000518.5:c.59A>G, NM_000518.5:c.55G>A, NM_000518.5:c.52A>T, NM_000518.5:c.51delC, NM_000518.5:c.51C>T, NM_000518.5:c.48G>A, NM_000518.5:c.46delT, NM_000518.5:c.47G>A, NM_000518.5:c.45dupG, NM_000518.5:c.36delT, NM_000518.5:c.33dupC, NM_000518.5:c.34G>A, NM_000518.5:c.32C>A, NM_000518.5:c.27dupG, NM_000518.5:c.25_26delAA, NM_000518.5:c.26A>G, NM_000518.5:c.22_24delGAG, NM_000518.5:c.22G>A, NM_000518.5:c.20delA, NM_000518.5:c.20A>T, NM_000518.5:c.19_20delGAinsAT, NM_000518.5:c.20A>C, NM_000518.5:c.18_19delTG, NM_000518.5:c.15_19delTCCTGinsATCTT, NM_000518.5:c.17_18delCT, NM_000518.5:c.19G>A, NM_000518.5:c.8A>C, NM_000518.5:c.4delG, NM_000518.5:c.4G>T, NM_000518.5:c.3G>A, NM_000518.5:c.2T>G, NM_000518.5:c.2T>C, NM_000518.5:c.2T>A, NM_000518.5:c.1A>G, NM_000518.5:c.-18C>G, NM_000518.5:c.-29G>A, NM_000518.5:c.-41delT, NM_000518.5:c.-50A>C, NM_000518.5:c.-77_-76delAA, NM_000518.5:c.-75G>C, NM_000518.5:c.-78A>G, NM_000518.5:c.-78A>C, NM_000518.5:c.-79A>G, NM_000518.5:c.-80T>C, NM_000518.5:c.-80T>A, NM_000518.5:c.-81A>G, NM_000518.5:c.-82C>T, NM_000518.5:c.-82C>A, NM_000518.5:c.-136C>T, NM_000518.5:c.-136C>G, NM_000518.5:c.-137C>T, NM_000518.5:c.-137C>G, NM_000518.5:c.-137C>A, NM_000518.5:c.-138C>T, NM_000518.5:c.-138C>G, NM_000518.5:c.-138C>A, NM_000518.5:c.-140C>T, NM_000518.5:c.-142C>T, NM_000518.5:c.-151C>T, NM_000518.5:c.*185_*209delGGTCAGTGCATTTAAAACATAAAGA, NM_000518.5:c.-50A>G, NM_000518.5:c.-142C>A
DISEASES
VARIANTS
NM_000520.6:c.1537C>T, NM_000520.6:c.1528C>T, NM_000520.6:c.1510delC, NM_000520.6:c.1511G>A, NM_000520.6:c.1510C>T, NM_000520.6:c.1499delT, NM_000520.6:c.1496G>A, NM_000520.6:c.1495C>T, NM_000520.6:c.1490A>G, NM_000520.6:c.1453T>C, NM_000520.6:c.1444G>A, NM_000520.6:c.1422G>C, NM_000520.6:c.1351C>G, NM_000520.6:c.1278_1281dupCTAT, NM_000520.6:c.1277_1278insTAT, NM_000520.6:c.1274_1277dupTATC, NM_000520.6:c.1260G>C, NM_000520.6:c.1214_1215delAAinsG, NM_000520.6:c.1177C>T, NM_000520.6:c.1176G>A, NM_000520.6:c.987G>A, NM_000520.6:c.986+3A>G, NM_000520.6:c.915_917delCTT, NM_000520.6:c.805+1G>C, NM_000520.6:c.805+1G>A, NM_000520.6:c.805G>A, NM_000520.6:c.759_774dupGCTTGCAGAGTTTGAC, NM_000520.6:c.772G>C, NM_000520.6:c.749G>A, NM_000520.6:c.745C>T, NM_000520.6:c.739C>T, NM_000520.6:c.672+1G>A, NM_000520.6:c.632T>C, NM_000520.6:c.629C>T, NM_000520.6:c.611A>G, NM_000520.6:c.540C>G, NM_000520.6:c.538T>C, NM_000520.6:c.533G>T, NM_000520.6:c.533G>A, NM_000520.6:c.532C>T, NM_000520.6:c.509G>A, NM_000520.6:c.508C>T, NM_000520.6:c.459+5G>A, NM_000520.6:c.380T>G, NM_000520.6:c.254-1G>C, NM_000520.6:c.173G>A, NM_000520.6:c.116T>G, NM_000520.6:c.78G>A, NM_000520.6:c.77G>A, NM_000520.6:c.2T>C, NM_000520.6:c.1A>T, NM_000520.6:c.1A>G
DISEASES
VARIANTS
NM_000521.4:c.114delG, NM_000521.4:c.170delG, NM_000521.4:c.202_203insGG, NM_000521.4:c.298delC, NM_000521.4:c.508C>T, NM_000521.4:c.797A>G, NM_000521.4:c.841C>T, NM_000521.4:c.850C>T, NM_000521.4:c.1234_1238delAAAGC, NM_000521.4:c.1250C>T, NM_000521.4:c.1308_1309delCA, NM_000521.4:c.1344delT, NM_000521.4:c.1367A>C, NM_000521.4:c.1375G>T, NM_000521.4:c.1380G>A, NM_000521.4:c.1514_1515insGGCAAGTGCTGTT, NM_000521.4:c.1537_1538delCT, NM_000521.4:c.1618_1619insGTTCATGTTATCTACAGACGT
DISEASES
VARIANTS
NM_000410.4:c.18G>C, NM_000410.4:c.193A>T, NM_000410.4:c.252G>A, NM_000410.4:c.277G>C, NM_000410.4:c.314T>C, NM_000410.4:c.829G>A, NM_000410.4:c.989G>T
DISEASES
VARIANTS
NM_000187.4:c.1189-2A>G, NM_000187.4:c.1111dupC, NM_000187.4:c.1102A>G, NM_000187.4:c.899T>G, NM_000187.4:c.873C>A, NM_000187.4:c.808G>A, NM_000187.4:c.688C>T, NM_000187.4:c.674G>A, NM_000187.4:c.481G>A, NM_000187.4:c.469+2T>C, NM_000187.4:c.342+1G>A, NM_000187.4:c.283-4C>T, NM_000187.4:c.283-5delT, NM_000187.4:c.175delA, NM_000187.4:c.172A>T, NM_000187.4:c.140C>T, NM_000187.4:c.16-1G>A
DISEASES
VARIANTS
NM_152419.3:c.493+1G>A, NM_152419.3:c.607C>T, NM_152419.3:c.848C>T, NM_152419.3:c.1030C>T, NM_152419.3:c.1250+1G>A, NM_152419.3:c.1378-1G>A, NM_152419.3:c.1464+1G>A, NM_152419.3:c.1501delA, NM_152419.3:c.1553C>T, NM_152419.3:c.1622C>T, NM_152419.3:c.1843G>A
DISEASES
VARIANTS
NM_000191.3:c.835G>A, NM_000191.3:c.698A>G, NM_000191.3:c.505_506delTC, NM_000191.3:c.230delT, NM_000191.3:c.206_207delCT, NM_000191.3:c.122G>A
DISEASES
VARIANTS
NM_002150.3:c.1005C>G, NM_002150.3:c.987delA, NM_002150.3:c.774T>G, NM_002150.3:c.600C>G
DISEASES
VARIANTS
NM_000195.5:c.1996G>T, NM_000195.5:c.1472_1487dupCCAGCAGGGGAGGCCC, NM_000195.5:c.972delC, NM_000195.5:c.398+5G>A, NM_000195.5:c.397G>T
DISEASES
VARIANTS
NM_000414.4:c.46G>A, NM_000414.4:c.317G>C, NM_000414.4:c.650A>G, NM_000414.4:c.972+1G>T, NM_000414.4:c.1369A>T
DISEASES
VARIANTS
NM_001134793.2:c.632A>G, NM_001134793.2:c.669G>A, NM_001134793.2:c.724C>T
DISEASES
VARIANTS
NM_000202.8:c.1508T>A, NM_000202.8:c.1505G>C, NM_000202.8:c.1466G>C, NM_000202.8:c.1464G>T, NM_000202.8:c.1148delC, NM_000202.8:c.1122C>T, NM_000202.8:c.998C>T, NM_000202.8:c.937C>T, NM_000202.8:c.880-8A>G, NM_000202.8:c.690_691insT, NM_000202.8:c.683C>T, NM_000202.8:c.596_599delAACA, NM_000202.8:c.597delA, NM_000202.8:c.587T>C, NM_000202.8:c.514C>T, NM_000202.8:c.404A>G, NM_000202.8:c.388_389insG, NM_000202.8:c.314_317dupTCAA, NM_000202.8:c.283A>G, NM_000202.8:c.278delC, NM_000202.8:c.240+1G>A, NM_000202.8:c.208dupC
DISEASES
VARIANTS
NM_003640.5:c.3332delC, NM_003640.5:c.2741C>T, NM_003640.5:c.2328delT, NM_003640.5:c.2204+6T>C, NM_003640.5:c.2087G>C, NM_003640.5:c.2087G>A, NM_003640.5:c.1460+2T>C
DISEASES
VARIANTS
NM_001142784.3:c.-3327A>G
DISEASES
VARIANTS
NM_000206.3:c.854G>A, NM_000206.3:c.664C>T, NM_000206.3:c.454+1G>A, NM_000206.3:c.452T>C, NM_000206.3:c.355A>T, NM_000206.3:c.343T>C, NM_000206.3:c.341G>A, NM_000206.3:c.186T>A
DISEASES
VARIANTS
NM_002225.5:c.-8T>G, NM_002225.5:c.125T>C, NM_002225.5:c.148C>T, NM_002225.5:c.149G>A, NM_002225.5:c.149G>C, NM_002225.5:c.234+1G>A, NM_002225.5:c.358G>A, NM_002225.5:c.381delT, NM_002225.5:c.397_398delTG, NM_002225.5:c.422_423insGAAT, NM_002225.5:c.456+2T>C, NM_002225.5:c.469_470insGT, NM_002225.5:c.498delG, NM_002225.5:c.550+1G>A, NM_002225.5:c.584G>A, NM_002225.5:c.596G>T, NM_002225.5:c.617delT, NM_002225.5:c.784+1G>A, NM_002225.5:c.851G>A, NM_002225.5:c.932C>T, NM_002225.5:c.985_986delAT, NM_002225.5:c.1132T>C, NM_002225.5:c.1136_1138+4delTTGGTGA, NM_002225.5:c.1138+1_1138+4delGTGA, NM_002225.5:c.1174C>T, NM_002225.5:c.1177delT, NM_002225.5:c.1183C>T, NM_002225.5:c.1199A>G
DISEASES
VARIANTS
NM_000426.4:c.112+1G>A, NM_000426.4:c.184G>T, NM_000426.4:c.725G>A, NM_000426.4:c.825delC, NM_000426.4:c.1050delT, NM_000426.4:c.1612C>T, NM_000426.4:c.1634T>A, NM_000426.4:c.2045_2046delAG, NM_000426.4:c.2098_2099delTT, NM_000426.4:c.2323-2A>T, NM_000426.4:c.2451-2A>G, NM_000426.4:c.2750-1G>C, NM_000426.4:c.2901C>A, NM_000426.4:c.2962C>T, NM_000426.4:c.3215delG, NM_000426.4:c.3237C>A, NM_000426.4:c.3620_3642delCCAAGGGCATTGTTTTTCAACAT, NM_000426.4:c.3629delT, NM_000426.4:c.3718C>T, NM_000426.4:c.3976C>T, NM_000426.4:c.4437-5T>A, NM_000426.4:c.4645C>T, NM_000426.4:c.5050G>T, NM_000426.4:c.5227G>T, NM_000426.4:c.6008delA, NM_000426.4:c.6037delT, NM_000426.4:c.6334A>T, NM_000426.4:c.6429+1G>A, NM_000426.4:c.6616delT, NM_000426.4:c.6955C>T, NM_000426.4:c.7147C>T, NM_000426.4:c.7277_7278delCT, NM_000426.4:c.7534delC, NM_000426.4:c.7732C>T, NM_000426.4:c.7810C>T, NM_000426.4:c.7888C>T, NM_000426.4:c.8314delA, NM_000426.4:c.8684C>G, NM_000426.4:c.8705delT, NM_000426.4:c.8748delA, NM_000426.4:c.9098_9099insCAAA, NM_000426.4:c.9220delA, NM_000426.4:c.9253C>T
DISEASES
VARIANTS
NM_198129.4:c.5160delG, NM_198129.4:c.6009delG, NM_198129.4:c.6808C>T, NM_198129.4:c.6943A>T, NM_198129.4:c.7489C>T, NM_198129.4:c.8177+2T>G, NM_198129.4:c.8962C>T, NM_198129.4:c.9156_9157insA, NM_198129.4:c.9704_9705insT
DISEASES
VARIANTS
NM_000228.3:c.3228+1G>T, NM_000228.3:c.3228+1G>A, NM_000228.3:c.2806C>T, NM_000228.3:c.1903C>T, NM_000228.3:c.1830G>A, NM_000228.3:c.1587_1588delAG, NM_000228.3:c.1438_1442delCCGTG, NM_000228.3:c.1357delT, NM_000228.3:c.904delT, NM_000228.3:c.727C>T, NM_000228.3:c.628+1delG, NM_000228.3:c.628G>A, NM_000228.3:c.565-2A>G, NM_000228.3:c.496C>T, NM_000228.3:c.124C>T
DISEASES
VARIANTS
NM_005562.3:c.283C>T, NM_005562.3:c.343C>T, NM_005562.3:c.405-1G>A, NM_005562.3:c.1659C>A, NM_005562.3:c.1782_1783delGC, NM_005562.3:c.2136_2142delCCAGAAC, NM_005562.3:c.3069+1G>A, NM_005562.3:c.3120_3121insA, NM_005562.3:c.3510_3511insA
DISEASES
VARIANTS
NM_001127671.2:c.2503G>T, NM_001127671.2:c.2013dupT, NM_001127671.2:c.1789C>T, NM_001127671.2:c.1018_1022delAATTG, NM_001127671.2:c.653dupT, NM_001127671.2:c.171_174delTAAC
DISEASES
VARIANTS
NM_001384474.1:c.4714C>T, NM_001384474.1:c.4524_4525delAG, NM_001384474.1:c.4526G>A, NM_001384474.1:c.3924C>A, NM_001384474.1:c.3874C>T, NM_001384474.1:c.2008C>T, NM_001384474.1:c.512-1G>A, NM_001384474.1:c.457_461dupCGCCA, NM_001384474.1:c.2T>A
DISEASES
VARIANTS
NM_133259.4:c.3830_3837delGTGGTGCA, NM_133259.4:c.1061C>T
DISEASES
VARIANTS
NM_000528.4:c.2686_2687delCTinsG, NM_000528.4:c.2436+2T>C, NM_000528.4:c.2426T>C, NM_000528.4:c.2401G>T, NM_000528.4:c.2398G>A, NM_000528.4:c.2368C>T, NM_000528.4:c.2278C>T, NM_000528.4:c.2119C>T, NM_000528.4:c.2013delT, NM_000528.4:c.1929G>A, NM_000528.4:c.1915C>T, NM_000528.4:c.1830+1G>C, NM_000528.4:c.1780C>T, NM_000528.4:c.1259G>T, NM_000528.4:c.1067C>G, NM_000528.4:c.384G>A, NM_000528.4:c.215A>T, NM_000528.4:c.1A>G
DISEASES
VARIANTS
NM_000429.3:c.1070C>T, NM_000429.3:c.1043_1044delTG, NM_000429.3:c.1006G>A, NM_000429.3:c.966T>G, NM_000429.3:c.914T>C, NM_000429.3:c.827_828insG, NM_000429.3:c.791G>A, NM_000429.3:c.790C>T, NM_000429.3:c.595C>T, NM_000429.3:c.538_539insTG
DISEASES
VARIANTS
NM_020166.5:c.2079delA, NM_020166.5:c.1942G>A, NM_020166.5:c.1930G>T, NM_020166.5:c.1905delA, NM_020166.5:c.1526delG, NM_020166.5:c.1380T>G, NM_020166.5:c.1310T>C, NM_020166.5:c.1277T>C, NM_020166.5:c.1155A>C, NM_020166.5:c.1114C>T, NM_020166.5:c.1074delG, NM_020166.5:c.640-1G>A, NM_020166.5:c.640-2A>G, NM_020166.5:c.558delA, NM_020166.5:c.559T>C, NM_020166.5:c.388G>A, NM_020166.5:c.343C>T, NM_020166.5:c.310C>T
DISEASES
VARIANTS
NM_022132.5:c.295G>C, NM_022132.5:c.380C>G, NM_022132.5:c.464G>A, NM_022132.5:c.499T>C, NM_022132.5:c.515_516insT, NM_022132.5:c.639delG, NM_022132.5:c.729_730insC, NM_022132.5:c.838G>T, NM_022132.5:c.929C>G, NM_022132.5:c.994C>T, NM_022132.5:c.1015G>A, NM_022132.5:c.1065A>T, NM_022132.5:c.1072+1G>A, NM_022132.5:c.1309A>G, NM_022132.5:c.1367C>T, NM_022132.5:c.1576_1577insT, NM_022132.5:c.1580G>A
DISEASES
VARIANTS
NM_020533.3:c.304C>T, NM_020533.3:c.964C>T, NM_020533.3:c.1084G>T, NM_020533.3:c.1207C>T
DISEASES
VARIANTS
NM_000243.3:c.2282G>A, NM_000243.3:c.2230G>T, NM_000243.3:c.2177T>C, NM_000243.3:c.2084A>G, NM_000243.3:c.2082G>A, NM_000243.3:c.2080A>G, NM_000243.3:c.2076_2078delAAT, NM_000243.3:c.2040G>C, NM_000243.3:c.2040G>A, NM_000243.3:c.1958G>A, NM_000243.3:c.1772T>C, NM_000243.3:c.1437C>G, NM_000243.3:c.1223G>A, NM_000243.3:c.1141C>T, NM_000243.3:c.1016C>T, NM_000243.3:c.800C>T, NM_000243.3:c.688G>A, NM_000243.3:c.656dupG, NM_000243.3:c.501G>C, NM_000243.3:c.443A>T, NM_000243.3:c.163dupA
DISEASES
VARIANTS
NM_001371596.2:c.1525_1526delCT, NM_001371596.2:c.1286G>A, NM_001371596.2:c.1235C>T, NM_001371596.2:c.1090delA, NM_001371596.2:c.999-2A>G, NM_001371596.2:c.929G>A, NM_001371596.2:c.894T>G, NM_001371596.2:c.881C>A, NM_001371596.2:c.362A>G
DISEASES
VARIANTS
NM_170784.3:c.1436C>G, NM_170784.3:c.1225_1226delGG, NM_170784.3:c.830T>C, NM_170784.3:c.724G>T, NM_170784.3:c.353delG, NM_170784.3:c.250C>T
DISEASES
VARIANTS
NM_017777.4:c.1349T>C, NM_017777.4:c.1319G>C, NM_017777.4:c.1024+1G>A, NM_017777.4:c.857A>G, NM_017777.4:c.814G>C, NM_017777.4:c.508C>T
DISEASES
VARIANTS
NM_015166.4:c.839C>T, NM_015166.4:c.424-2A>C, NM_015166.4:c.423C>A, NM_015166.4:c.422A>G, NM_015166.4:c.278C>T, NM_015166.4:c.274C>T, NM_015166.4:c.206C>T, NM_015166.4:c.135dupC, NM_015166.4:c.33dupC
DISEASES
VARIANTS
NM_012213.3:c.560C>G, NM_012213.3:c.679_680insTGAAGC, NM_012213.3:c.755delT
DISEASES
VARIANTS
NM_172250.3:c.283C>T, NM_172250.3:c.387C>A, NM_172250.3:c.440G>A, NM_172250.3:c.447_448insG, NM_172250.3:c.451delC, NM_172250.3:c.503delC, NM_172250.3:c.586C>T, NM_172250.3:c.620A>G, NM_172250.3:c.811G>T, NM_172250.3:c.1032delT
DISEASES
VARIANTS
NM_052845.4:c.700C>T, NM_052845.4:c.577G>A, NM_052845.4:c.569G>A, NM_052845.4:c.568C>T, NM_052845.4:c.557G>A, NM_052845.4:c.556C>T, NM_052845.4:c.548A>T, NM_052845.4:c.220G>T, NM_052845.4:c.197-1G>T, NM_052845.4:c.197-1G>A
DISEASES
VARIANTS
NM_015506.3:c.270_271insA, NM_015506.3:c.331C>T, NM_015506.3:c.347T>C, NM_015506.3:c.382_384delTAC, NM_015506.3:c.388T>C, NM_015506.3:c.389A>G, NM_015506.3:c.394C>T, NM_015506.3:c.440G>C, NM_015506.3:c.481C>T, NM_015506.3:c.482G>A, NM_015506.3:c.544_545delTG, NM_015506.3:c.608G>A, NM_015506.3:c.609G>A, NM_015506.3:c.615C>A, NM_015506.3:c.615C>G, NM_015506.3:c.616_617insG, NM_015506.3:c.616C>T, NM_015506.3:c.656_658delAGA, NM_015506.3:c.688C>T
DISEASES
VARIANTS
NM_015702.3:c.795dupT, NM_015702.3:c.776T>C, NM_015702.3:c.748C>T, NM_015702.3:c.746A>G, NM_015702.3:c.737A>G, NM_015702.3:c.545C>A, NM_015702.3:c.478+1G>T, NM_015702.3:c.419dupA, NM_015702.3:c.57_64delCTCTTTAG
DISEASES
VARIANTS
NM_000255.4:c.2150G>T, NM_000255.4:c.2080C>T, NM_000255.4:c.1924G>C, NM_000255.4:c.1871A>G, NM_000255.4:c.1867G>A, NM_000255.4:c.1741C>T, NM_000255.4:c.1658delT, NM_000255.4:c.1445-2A>G, NM_000255.4:c.1420C>T, NM_000255.4:c.1399C>T, NM_000255.4:c.1280G>A, NM_000255.4:c.1207C>T, NM_000255.4:c.1181T>A, NM_000255.4:c.1106G>A, NM_000255.4:c.914T>C, NM_000255.4:c.682C>T, NM_000255.4:c.671_678dupAATTTATG, NM_000255.4:c.655A>T, NM_000255.4:c.643G>A, NM_000255.4:c.607G>A, NM_000255.4:c.572C>A, NM_000255.4:c.313T>C, NM_000255.4:c.280G>A, NM_000255.4:c.278G>A, NM_000255.4:c.91C>T
DISEASES
VARIANTS
NM_001358530.2:c.1027C>T, NM_001358530.2:c.956G>A, NM_001358530.2:c.397_406delCCGGACGTGG, NM_001358530.2:c.218G>A, NM_001358530.2:c.217C>T
DISEASES
VARIANTS
NM_002435.3:c.305C>T, NM_002435.3:c.413T>C, NM_002435.3:c.656G>A, NM_002435.3:c.884G>A, NM_002435.3:c.982C>T, NM_002435.3:c.1016_1019delACCC
DISEASES
VARIANTS
NM_002437.5:c.498C>A, NM_002437.5:c.462-2A>C, NM_002437.5:c.359G>A, NM_002437.5:c.284dupG, NM_002437.5:c.263_265delAGA, NM_002437.5:c.263A>T, NM_002437.5:c.149G>A, NM_002437.5:c.148C>T, NM_002437.5:c.70G>T
DISEASES
VARIANTS
NM_005957.5:c.1768delC, NM_005957.5:c.1743G>A, NM_005957.5:c.1129C>T, NM_005957.5:c.971A>G, NM_005957.5:c.968T>C, NM_005957.5:c.547C>T, NM_005957.5:c.439C>T, NM_005957.5:c.3G>A
DISEASES
VARIANTS
NM_000252.3:c.70C>T, NM_000252.3:c.420C>G, NM_000252.3:c.461T>G, NM_000252.3:c.594_598delCCCTG, NM_000252.3:c.670C>T, NM_000252.3:c.721C>T, NM_000252.3:c.780T>A, NM_000252.3:c.962_963insA, NM_000252.3:c.963delA, NM_000252.3:c.1261-10A>G, NM_000252.3:c.1304_1305insTCCTA, NM_000252.3:c.1356_1357delCC, NM_000252.3:c.1415_1416delGT
DISEASES
VARIANTS
NM_001386140.1:c.703_704delAC, NM_001386140.1:c.1619G>A, NM_001386140.1:c.1769G>T, NM_001386140.1:c.1867+1G>A, NM_001386140.1:c.2030delC, NM_001386140.1:c.2593G>T
DISEASES
VARIANTS
NM_016239.4:c.625G>T, NM_016239.4:c.754_755insA, NM_016239.4:c.3313G>T, NM_016239.4:c.3334delG, NM_016239.4:c.3385C>T, NM_016239.4:c.3693-2A>G, NM_016239.4:c.3756+1G>T, NM_016239.4:c.4351G>A, NM_016239.4:c.4750_4751insTC, NM_016239.4:c.5326C>T, NM_016239.4:c.5492G>T, NM_016239.4:c.6003delG, NM_016239.4:c.6046+2T>G, NM_016239.4:c.6614C>T, NM_016239.4:c.6743C>T, NM_016239.4:c.6863_6873delCGGACCTGGAG, NM_016239.4:c.8148G>T, NM_016239.4:c.8410A>T, NM_016239.4:c.8429_8447delGCGGGCAGCTGCGGGTCCT, NM_016239.4:c.8548C>T, NM_016239.4:c.9956_9959delCTGA, NM_016239.4:c.10573delA
DISEASES
VARIANTS
NM_000260.4:c.3G>A, NM_000260.4:c.133-2A>G, NM_000260.4:c.448C>T, NM_000260.4:c.494C>T, NM_000260.4:c.634C>T, NM_000260.4:c.635G>A, NM_000260.4:c.640G>A, NM_000260.4:c.731G>C, NM_000260.4:c.1184G>A, NM_000260.4:c.1344-1G>A, NM_000260.4:c.1797G>A, NM_000260.4:c.1884C>A, NM_000260.4:c.1996C>T, NM_000260.4:c.2023C>T, NM_000260.4:c.2476G>A, NM_000260.4:c.2617C>T, NM_000260.4:c.3134T>C, NM_000260.4:c.3504-1G>C, NM_000260.4:c.3508G>A, NM_000260.4:c.3595_3596insT, NM_000260.4:c.3719G>A, NM_000260.4:c.3763delA, NM_000260.4:c.4018G>A, NM_000260.4:c.4024delT, NM_000260.4:c.5227C>T, NM_000260.4:c.5392C>T, NM_000260.4:c.5507T>G, NM_000260.4:c.5618G>A, NM_000260.4:c.5824G>T, NM_000260.4:c.5884_5887delTTCT, NM_000260.4:c.5967C>G, NM_000260.4:c.6024delG
DISEASES
VARIANTS
NM_153006.3:c.916-2A>T, NM_153006.3:c.971G>A, NM_153006.3:c.1025delG, NM_153006.3:c.1289T>C, NM_153006.3:c.1299G>C, NM_153006.3:c.1306_1307insT
DISEASES
VARIANTS
NM_006096.4:c.928C>T, NM_006096.4:c.538-1G>A, NM_006096.4:c.442C>T, NM_006096.4:c.16C>T, NM_006096.4:c.-18-2_-18-1delAG
DISEASES
VARIANTS
NM_001164507.2:c.25404+1_25404+2insATGGA, NM_001164507.2:c.25174G>T, NM_001164507.2:c.24874-1G>A, NM_001164507.2:c.24687_24688delGA, NM_001164507.2:c.24665_24666delTT, NM_001164507.2:c.23989C>T, NM_001164507.2:c.23421_23422delAG, NM_001164507.2:c.21945+1G>A, NM_001164507.2:c.21076C>T, NM_001164507.2:c.19285_19286delGCinsAA, NM_001164507.2:c.12203_12204delTG, NM_001164507.2:c.8031_8041delAAATAAACGAG, NM_001164507.2:c.6105dupT, NM_001164507.2:c.5567G>A, NM_001164507.2:c.3191A>G, NM_001164507.2:c.2173G>T, NM_001164507.2:c.843T>G
DISEASES
VARIANTS
NM_000271.5:c.3662delT, NM_000271.5:c.3611_3614delTTAC, NM_000271.5:c.3467A>G, NM_000271.5:c.3425T>C, NM_000271.5:c.3182T>C, NM_000271.5:c.3175C>T, NM_000271.5:c.3107C>T, NM_000271.5:c.3104C>T, NM_000271.5:c.3019C>G, NM_000271.5:c.2974G>T, NM_000271.5:c.2972_2973delAG, NM_000271.5:c.2974G>A, NM_000271.5:c.2932C>T, NM_000271.5:c.2873G>A, NM_000271.5:c.2861C>T, NM_000271.5:c.2848G>A, NM_000271.5:c.2842G>A, NM_000271.5:c.2761C>T, NM_000271.5:c.2324A>C, NM_000271.5:c.2072C>T, NM_000271.5:c.1628C>T, NM_000271.5:c.1211G>A, NM_000271.5:c.1042C>T, NM_000271.5:c.813_815delCAT, NM_000271.5:c.743G>T, NM_000271.5:c.530G>A, NM_000271.5:c.352_353delAG, NM_000271.5:c.337T>C
DISEASES
VARIANTS
NM_006432.5:c.441+1G>A, NM_006432.5:c.436C>T, NM_006432.5:c.358C>T, NM_006432.5:c.352G>T, NM_006432.5:c.295T>C, NM_006432.5:c.190+5G>A, NM_006432.5:c.115G>A, NM_006432.5:c.58G>T, NM_006432.5:c.27delG
DISEASES
VARIANTS
NM_001128178.3:c.1716+1G>T, NM_001128178.3:c.1016dupC, NM_001128178.3:c.771+58C>T, NM_001128178.3:c.555dupA, NM_001128178.3:c.455C>G, NM_001128178.3:c.80T>A, NM_001128178.3:c.1delA
DISEASES
VARIANTS
NM_004646.4:c.3478C>T, NM_004646.4:c.3325C>T, NM_004646.4:c.3109+1G>A, NM_004646.4:c.2928G>T, NM_004646.4:c.2746G>T, NM_004646.4:c.2491C>T, NM_004646.4:c.2464G>A, NM_004646.4:c.2456A>T, NM_004646.4:c.1715G>A, NM_004646.4:c.1481delC, NM_004646.4:c.1307_1308dupAC, NM_004646.4:c.121_122delCT, NM_004646.4:c.59-5C>G
DISEASES
VARIANTS
NM_014249.4:c.119-2A>C, NM_014249.4:c.226C>T, NM_014249.4:c.227G>A, NM_014249.4:c.297_298delGT, NM_014249.4:c.361G>A, NM_014249.4:c.932G>A, NM_014249.4:c.1034_1038delTGCAG
DISEASES
VARIANTS
NM_002529.4:c.1076A>G, NM_002529.4:c.1474G>A, NM_002529.4:c.1726delT, NM_002529.4:c.1729G>C, NM_002529.4:c.1759A>G, NM_002529.4:c.1870C>T, NM_002529.4:c.1926_1927insT, NM_002529.4:c.1960C>T, NM_002529.4:c.2084C>T, NM_002529.4:c.2339G>C
DISEASES
VARIANTS
NM_000274.4:c.1276C>T, NM_000274.4:c.1250C>T, NM_000274.4:c.1205T>C, NM_000274.4:c.994G>A, NM_000274.4:c.955C>T, NM_000274.4:c.952delG, NM_000274.4:c.952G>A, NM_000274.4:c.901-2A>G, NM_000274.4:c.824G>A, NM_000274.4:c.812G>A, NM_000274.4:c.677C>T, NM_000274.4:c.627T>A, NM_000274.4:c.596C>A, NM_000274.4:c.539G>C, NM_000274.4:c.533G>A, NM_000274.4:c.278G>T, NM_000274.4:c.268C>G, NM_000274.4:c.159delC
DISEASES
VARIANTS
NM_000276.4:c.903_904delAG, NM_000276.4:c.1499G>A, NM_000276.4:c.2299C>T, NM_000276.4:c.2402_2403insA, NM_000276.4:c.2530C>T, NM_000276.4:c.2534delA
DISEASES
VARIANTS
NM_000531.6:c.77G>A, NM_000531.6:c.118C>T, NM_000531.6:c.119G>A, NM_000531.6:c.134T>C, NM_000531.6:c.148G>T, NM_000531.6:c.238A>G, NM_000531.6:c.245T>G, NM_000531.6:c.259G>A, NM_000531.6:c.275G>A, NM_000531.6:c.332T>C, NM_000531.6:c.421C>T, NM_000531.6:c.460G>T, NM_000531.6:c.563G>T, NM_000531.6:c.589G>T, NM_000531.6:c.617T>G, NM_000531.6:c.646C>G, NM_000531.6:c.674C>T, NM_000531.6:c.717+2T>C, NM_000531.6:c.829C>T
DISEASES
VARIANTS
NM_000277.3:c.1315+1G>A, NM_000277.3:c.1243G>A, NM_000277.3:c.1241A>G, NM_000277.3:c.1238G>C, NM_000277.3:c.1222C>T, NM_000277.3:c.1217T>C, NM_000277.3:c.1208C>T, NM_000277.3:c.1199+17G>A, NM_000277.3:c.1199+1G>A, NM_000277.3:c.1197A>T, NM_000277.3:c.1184C>A, NM_000277.3:c.1169A>G, NM_000277.3:c.1166delC, NM_000277.3:c.1162G>A, NM_000277.3:c.1139C>T, NM_000277.3:c.1068C>A, NM_000277.3:c.1066-3C>T, NM_000277.3:c.1066-11G>A, NM_000277.3:c.1045T>C, NM_000277.3:c.1042C>G, NM_000277.3:c.1033G>T, NM_000277.3:c.1030G>A, NM_000277.3:c.955G>T, NM_000277.3:c.926C>T, NM_000277.3:c.926C>A, NM_000277.3:c.912+1G>A, NM_000277.3:c.898G>T, NM_000277.3:c.896T>G, NM_000277.3:c.842+5G>A, NM_000277.3:c.838G>A, NM_000277.3:c.829T>G, NM_000277.3:c.823C>T, NM_000277.3:c.818C>T, NM_000277.3:c.814G>T, NM_000277.3:c.809G>A, NM_000277.3:c.806delT, NM_000277.3:c.782G>A, NM_000277.3:c.764T>C, NM_000277.3:c.755G>A, NM_000277.3:c.754C>T, NM_000277.3:c.745C>T, NM_000277.3:c.737C>A, NM_000277.3:c.734T>C, NM_000277.3:c.733G>C, NM_000277.3:c.728G>A, NM_000277.3:c.727C>T, NM_000277.3:c.722delG, NM_000277.3:c.722G>A, NM_000277.3:c.721C>T, NM_000277.3:c.688G>A, NM_000277.3:c.673C>G, NM_000277.3:c.665A>G, NM_000277.3:c.638T>C, NM_000277.3:c.611A>G, NM_000277.3:c.569T>C, NM_000277.3:c.533A>G, NM_000277.3:c.529G>A, NM_000277.3:c.527G>T, NM_000277.3:c.509+1G>A, NM_000277.3:c.508C>G, NM_000277.3:c.503delA, NM_000277.3:c.490A>G, NM_000277.3:c.482T>C, NM_000277.3:c.473G>A, NM_000277.3:c.472C>T, NM_000277.3:c.450dupA, NM_000277.3:c.442-1G>A, NM_000277.3:c.442-5C>G, NM_000277.3:c.441+5G>T, NM_000277.3:c.441+1G>A, NM_000277.3:c.357delC, NM_000277.3:c.331C>T, NM_000277.3:c.320A>G, NM_000277.3:c.311C>A, NM_000277.3:c.284_286delTCA, NM_000277.3:c.261C>A, NM_000277.3:c.250G>T, NM_000277.3:c.232G>A, NM_000277.3:c.204A>T, NM_000277.3:c.194T>C, NM_000277.3:c.165T>G, NM_000277.3:c.158G>A, NM_000277.3:c.157C>T, NM_000277.3:c.143T>C, NM_000277.3:c.136G>A, NM_000277.3:c.117C>G, NM_000277.3:c.47_48delCT
DISEASES
VARIANTS
NM_001386393.1:c.460C>T, NM_001386393.1:c.491_492delCT, NM_001386393.1:c.881A>T, NM_001386393.1:c.1231G>A, NM_001386393.1:c.1253C>T
DISEASES
VARIANTS
NM_001040716.2:c.1748G>T, NM_001040716.2:c.496G>A, NM_001040716.2:c.434T>C
DISEASES
VARIANTS
NM_000282.4:c.229C>T, NM_000282.4:c.259_260insT, NM_000282.4:c.412G>A, NM_000282.4:c.600+1G>A, NM_000282.4:c.862A>T, NM_000282.4:c.1022_1023insT, NM_000282.4:c.1118T>A, NM_000282.4:c.1224_1225delTT, NM_000282.4:c.1284+1G>A, NM_000282.4:c.1594_1597delTTGT, NM_000282.4:c.1891G>C, NM_000282.4:c.1899+1_1899+4delGTAA
DISEASES
VARIANTS
NM_000532.5:c.331C>T, NM_000532.5:c.337C>T, NM_000532.5:c.502G>A, NM_000532.5:c.562G>A, NM_000532.5:c.683C>T, NM_000532.5:c.737G>T, NM_000532.5:c.984_985insT, NM_000532.5:c.1169_1170insT, NM_000532.5:c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA, NM_000532.5:c.1219_1224delGGCATCinsAA, NM_000532.5:c.1223_1226delTCAT, NM_000532.5:c.1228C>T, NM_000532.5:c.1229_1230insT, NM_000532.5:c.1283C>T, NM_000532.5:c.1304A>G, NM_000532.5:c.1490C>T, NM_000532.5:c.1534C>T, NM_000532.5:c.1537_1538insCCC, NM_000532.5:c.1606A>G
DISEASES
VARIANTS
NM_033056.4:c.5724_5755delACGCACAAATGTTTCAGAACTTCAAACTATGT, NM_033056.4:c.5659A>T, NM_033056.4:c.4961_4962insTGAT, NM_033056.4:c.4937_4940dupTGAT, NM_033056.4:c.4864delA, NM_033056.4:c.4548_4551dupATCT, NM_001384140.1:c.3718-2A>G, NM_001384140.1:c.2645_2646delAT, NM_001384140.1:c.1940C>G, NM_001384140.1:c.1737C>G, NM_001384140.1:c.1583T>A, NM_001384140.1:c.1088delT, NM_001384140.1:c.1021C>T, NM_001384140.1:c.1006C>T, NM_001384140.1:c.785G>A, NM_001384140.1:c.400C>T, NM_001384140.1:c.400C>G, NM_001384140.1:c.7C>T
DISEASES
VARIANTS
NM_000284.4:c.262C>T, NM_000284.4:c.773A>C, NM_000284.4:c.787C>G, NM_000284.4:c.871G>A
DISEASES
VARIANTS
NM_000466.3:c.3505_3517delCAGTTGTTTTCAC, NM_000466.3:c.2916delA, NM_000466.3:c.2528G>A, NM_000466.3:c.2097dupT, NM_000466.3:c.1991T>C, NM_000466.3:c.1952_1960dupCAGTGTGGA, NM_000466.3:c.1842delA, NM_000466.3:c.1239+1G>T, NM_000466.3:c.877C>T
DISEASES
VARIANTS
NM_000286.3:c.959C>T, NM_000286.3:c.894delC, NM_000286.3:c.888_889delCT, NM_000286.3:c.771delC, NM_000286.3:c.538C>T, NM_000286.3:c.455_459dupGGAAA
DISEASES
VARIANTS
NM_000318.3:c.789_790delCT, NM_000318.3:c.163G>A
DISEASES
VARIANTS
NM_000288.4:c.532C>T, NM_000288.4:c.618G>A, NM_000288.4:c.649G>A, NM_000288.4:c.653C>T, NM_000288.4:c.694C>T, NM_000288.4:c.722A>T, NM_000288.4:c.854A>G, NM_000288.4:c.875T>A, NM_000288.4:c.903+1G>C
DISEASES
VARIANTS
NM_138694.4:c.12027C>G, NM_138694.4:c.11611T>C, NM_138694.4:c.11363_11372delCTTCCCTGGA, NM_138694.4:c.11284C>A, NM_138694.4:c.10585G>C, NM_138694.4:c.10515C>A, NM_138694.4:c.10452dupT, NM_138694.4:c.10412T>G, NM_138694.4:c.10219C>T, NM_138694.4:c.10036T>C, NM_138694.4:c.9866G>T, NM_138694.4:c.9719G>A, NM_138694.4:c.9689delA, NM_138694.4:c.9530T>C, NM_138694.4:c.9370C>T, NM_138694.4:c.9107T>G, NM_138694.4:c.8870T>C, NM_138694.4:c.8824C>T, NM_138694.4:c.8518C>T, NM_138694.4:c.8408G>A, NM_138694.4:c.8407T>C, NM_138694.4:c.8317G>T, NM_138694.4:c.6854G>A, NM_138694.4:c.6499C>T, NM_138694.4:c.5895dupA, NM_138694.4:c.5498C>T, NM_138694.4:c.5325_5326delAG, NM_138694.4:c.4870C>T, NM_138694.4:c.4165C>A, NM_138694.4:c.3940delA, NM_138694.4:c.3766delC, NM_138694.4:c.3761_3762delCCinsG, NM_138694.4:c.3367G>A, NM_138694.4:c.3229-2A>C, NM_138694.4:c.2854G>A, NM_138694.4:c.2827_2828delGA, NM_138694.4:c.2747A>C, NM_138694.4:c.2452C>T, NM_138694.4:c.2414C>T, NM_138694.4:c.2341C>T, NM_138694.4:c.1486C>T, NM_138694.4:c.1409G>A, NM_138694.4:c.1342G>C, NM_138694.4:c.982C>T, NM_138694.4:c.930delC, NM_138694.4:c.682A>G, NM_138694.4:c.664A>G, NM_138694.4:c.370C>T, NM_138694.4:c.353delG, NM_138694.4:c.107C>T, NM_138694.4:c.85G>T
DISEASES
VARIANTS
NM_003560.4:c.2370T>G, NM_003560.4:c.2239C>T, NM_003560.4:c.1903C>T, NM_003560.4:c.1894C>T, NM_003560.4:c.1634A>C, NM_003560.4:c.1612C>T, NM_003560.4:c.929T>A, NM_003560.4:c.238G>A, NM_003560.4:c.109C>T
DISEASES
VARIANTS
NM_000303.3:c.26G>A, NM_000303.3:c.53C>G, NM_000303.3:c.95_96delTAinsGC, NM_000303.3:c.95T>G, NM_000303.3:c.97C>T, NM_000303.3:c.109C>T, NM_000303.3:c.127G>C, NM_000303.3:c.131T>C, NM_000303.3:c.190delT, NM_000303.3:c.193G>T, NM_000303.3:c.255+2T>C, NM_000303.3:c.256-1G>C, NM_000303.3:c.317A>T, NM_000303.3:c.323C>T, NM_000303.3:c.338C>T, NM_000303.3:c.349G>C, NM_000303.3:c.357C>A, NM_000303.3:c.368G>A, NM_000303.3:c.385G>A, NM_000303.3:c.395T>C, NM_000303.3:c.415G>A, NM_000303.3:c.422G>A, NM_000303.3:c.442G>A, NM_000303.3:c.470T>C, NM_000303.3:c.484C>T, NM_000303.3:c.563A>G, NM_000303.3:c.620T>C, NM_000303.3:c.623G>C, NM_000303.3:c.647A>T, NM_000303.3:c.652C>G, NM_000303.3:c.669C>G, NM_000303.3:c.677C>G, NM_000303.3:c.691G>A, NM_000303.3:c.710C>G, NM_000303.3:c.710C>T
DISEASES
VARIANTS
NM_018129.4:c.674G>A, NM_018129.4:c.685C>T
DISEASES
VARIANTS
NM_002693.3:c.3644-1G>A, NM_002693.3:c.3630dupC, NM_002693.3:c.3286C>T, NM_002693.3:c.3218C>T, NM_002693.3:c.3151G>C, NM_002693.3:c.2794C>T, NM_002693.3:c.2617G>T, NM_002693.3:c.2605C>T, NM_002693.3:c.2591A>G, NM_002693.3:c.2557C>T, NM_002693.3:c.2542G>A, NM_002693.3:c.2243G>C, NM_002693.3:c.2209G>C, NM_002693.3:c.2207A>G, NM_002693.3:c.1879C>T, NM_002693.3:c.1760C>T, NM_002693.3:c.1754G>A, NM_002693.3:c.1550G>T, NM_002693.3:c.1491G>C, NM_002693.3:c.1437C>G, NM_002693.3:c.1399G>A, NM_002693.3:c.1120C>T, NM_002693.3:c.911T>G, NM_002693.3:c.830A>T, NM_002693.3:c.803G>C, NM_002693.3:c.752C>T
DISEASES
VARIANTS
NM_017739.4:c.1864delC, NM_017739.4:c.1814G>C, NM_017739.4:c.1666G>A, NM_017739.4:c.1545delC, NM_017739.4:c.1539+1G>T, NM_017739.4:c.1539+1G>A, NM_017739.4:c.1469G>A, NM_017739.4:c.1425G>A, NM_017739.4:c.1411A>T, NM_017739.4:c.1274G>C, NM_017739.4:c.932G>A, NM_017739.4:c.931C>T, NM_017739.4:c.880-1G>A, NM_017739.4:c.794G>A, NM_017739.4:c.652+1G>A, NM_017739.4:c.636C>T, NM_017739.4:c.187C>T, NM_017739.4:c.92dupA
DISEASES
VARIANTS
NM_000310.4:c.840dupA, NM_000310.4:c.627+1G>T, NM_000310.4:c.541G>T, NM_000310.4:c.451C>T, NM_000310.4:c.223A>C, NM_000310.4:c.29T>A
DISEASES
VARIANTS
NM_006261.5:c.469dupT, NM_006261.5:c.373C>T, NM_006261.5:c.358C>T, NM_006261.5:c.349T>A, NM_006261.5:c.310delC, NM_006261.5:c.301_302delAG, NM_006261.5:c.295C>T, NM_006261.5:c.263T>C, NM_006261.5:c.247C>T, NM_006261.5:c.218G>A, NM_006261.5:c.217C>T, NM_006261.5:c.157delA, NM_006261.5:c.150delA, NM_006261.5:c.112_124delTCGAGTGCTCCAC, NM_006261.5:c.4delG, NM_006261.5:c.2T>C, NM_006261.5:c.343-11C>G
DISEASES
VARIANTS
NM_002764.4:c.193G>A, NM_002764.4:c.344T>C, NM_002764.4:c.398A>C, NM_002764.4:c.455T>C, NM_002764.4:c.869T>C, NM_002764.4:c.916G>A
DISEASES
VARIANTS
NM_002778.4:c.1288C>T, NM_002778.4:c.1046T>C, NM_002778.4:c.643A>C, NM_002778.4:c.607C>T, NM_002778.4:c.1A>T
DISEASES
VARIANTS
NM_005609.4:c.2392T>C, NM_005609.4:c.2262delA, NM_005609.4:c.2128_2130delTTC, NM_005609.4:c.2009C>T, NM_005609.4:c.1963G>A, NM_005609.4:c.1827G>A, NM_005609.4:c.1768+1G>A, NM_005609.4:c.1726C>T, NM_005609.4:c.1722T>G, NM_005609.4:c.1628A>C, NM_005609.4:c.1621G>T, NM_005609.4:c.1466C>G, NM_005609.4:c.1094C>T, NM_005609.4:c.613G>A, NM_005609.4:c.501dupT, NM_005609.4:c.481C>T, NM_005609.4:c.393delG, NM_005609.4:c.280C>T, NM_005609.4:c.255C>A, NM_005609.4:c.148C>T, NM_005609.4:c.13_14delCT, NM_005609.4:c.1A>G
DISEASES
VARIANTS
NM_016277.5:c.434T>A, NM_016277.5:c.407dupC
DISEASES
VARIANTS
NM_000448.3:c.256_257delAA, NM_000448.3:c.940C>T, NM_000448.3:c.983G>A, NM_000448.3:c.1681C>T, NM_000448.3:c.1682G>A, NM_000448.3:c.2164G>A, NM_000448.3:c.2320G>T, NM_000448.3:c.2326C>T, NM_000448.3:c.2333G>A, NM_000448.3:c.2814T>G, NM_000448.3:c.2923C>T, NM_000448.3:c.3016A>G
DISEASES
VARIANTS
NM_000536.4:c.1504A>G, NM_000536.4:c.1352G>C, NM_000536.4:c.686G>A, NM_000536.4:c.685C>T, NM_000536.4:c.601C>T, NM_000536.4:c.283G>A, NM_000536.4:c.230C>A, NM_000536.4:c.115A>G
DISEASES
VARIANTS
NM_005055.5:c.848T>C, NM_005055.5:c.807C>A, NM_005055.5:c.603C>A, NM_005055.5:c.566C>T, NM_005055.5:c.490C>T, NM_005055.5:c.484G>A, NM_005055.5:c.416T>C, NM_005055.5:c.264C>A
DISEASES
VARIANTS
NM_152443.3:c.146C>T, NM_152443.3:c.152T>A, NM_152443.3:c.164C>T, NM_152443.3:c.184C>T, NM_152443.3:c.209_210insC, NM_152443.3:c.295C>A, NM_152443.3:c.377C>T, NM_152443.3:c.379G>T, NM_152443.3:c.448+1_448+4delGTAA, NM_152443.3:c.451C>A, NM_152443.3:c.451C>G, NM_152443.3:c.464C>T, NM_152443.3:c.523T>C, NM_152443.3:c.565C>T, NM_152443.3:c.677A>G, NM_152443.3:c.805_809delGCCCT
DISEASES
VARIANTS
NM_000326.5:c.875C>T, NM_000326.5:c.700C>T, NM_000326.5:c.452G>A, NM_000326.5:c.333T>G
DISEASES
VARIANTS
NM_000329.3:c.1543C>T, NM_000329.3:c.1355T>G, NM_000329.3:c.1301C>T, NM_000329.3:c.1292A>G, NM_000329.3:c.1102T>C, NM_000329.3:c.1087C>A, NM_000329.3:c.1022T>C, NM_000329.3:c.907A>T, NM_000329.3:c.881A>C, NM_000329.3:c.514_515delGT, NM_000329.3:c.394G>A, NM_000329.3:c.272G>A, NM_000329.3:c.271C>T
DISEASES
VARIANTS
NM_015272.5:c.3706C>T, NM_015272.5:c.3634_3637delGAAA, NM_015272.5:c.3548C>G, NM_015272.5:c.2794_2795delTT, NM_015272.5:c.2614C>T, NM_015272.5:c.2413C>T, NM_015272.5:c.2050C>T, NM_015272.5:c.2030C>T, NM_015272.5:c.1975T>C, NM_015272.5:c.1843A>C, NM_015272.5:c.1326_1329delAAAA, NM_015272.5:c.1329dupA, NM_015272.5:c.1177G>A, NM_015272.5:c.776+1G>A, NM_015272.5:c.757C>T, NM_015272.5:c.697A>T, NM_015272.5:c.394A>T
DISEASES
VARIANTS
NM_014363.6:c.13237C>T, NM_014363.6:c.12160C>T, NM_014363.6:c.11624G>A, NM_014363.6:c.10954C>A, NM_014363.6:c.10907G>A, NM_014363.6:c.8844delT, NM_014363.6:c.8107C>T, NM_014363.6:c.7504C>T, NM_014363.6:c.6781C>A, NM_014363.6:c.6563T>A, NM_014363.6:c.6355C>T, NM_014363.6:c.5618_5619delAT, NM_014363.6:c.4933C>T, NM_014363.6:c.3198T>A, NM_014363.6:c.994A>T, NM_014363.6:c.517C>T
DISEASES
VARIANTS
NM_016038.4:c.652C>T, NM_016038.4:c.505C>T, NM_016038.4:c.377G>C, NM_016038.4:c.258+2T>C, NM_016038.4:c.183_184delTAinsCT, NM_016038.4:c.184A>T, NM_016038.4:c.127G>T, NM_016038.4:c.120delG
DISEASES
VARIANTS
NM_000295.5:c.1177C>T, NM_000295.5:c.1093G>A, NM_000295.5:c.848A>T, NM_000295.5:c.839A>T, NM_000295.5:c.739C>T, NM_000295.5:c.514G>T, NM_000295.5:c.514G>A, NM_000295.5:c.415G>A, NM_000295.5:c.347T>A, NM_000295.5:c.272G>A, NM_000295.5:c.250G>A, NM_000295.5:c.230C>T, NM_000295.5:c.194T>C, NM_000295.5:c.187C>T
DISEASES
VARIANTS
NM_000023.4:c.101G>A, NM_000023.4:c.229C>T, NM_000023.4:c.371T>C, NM_000023.4:c.518T>C, NM_000023.4:c.574C>T, NM_000023.4:c.662G>A, NM_000023.4:c.739G>A, NM_000023.4:c.850C>T, NM_000023.4:c.901_902insCC
DISEASES
VARIANTS
NM_000232.5:c.552T>G, NM_000232.5:c.452C>G, NM_000232.5:c.341C>T, NM_000232.5:c.323T>G, NM_000232.5:c.299T>A, NM_000232.5:c.272G>T, NM_000232.5:c.272G>C
DISEASES
VARIANTS
NM_000231.3:c.88delG, NM_000231.3:c.195_195+3delAGTA, NM_000231.3:c.505+1G>A, NM_000231.3:c.521delT, NM_000231.3:c.787G>A, NM_000231.3:c.848G>A
DISEASES
VARIANTS
NM_000199.5:c.1380delT, NM_000199.5:c.1339G>A, NM_000199.5:c.1298G>A, NM_000199.5:c.1167C>A, NM_000199.5:c.892T>C, NM_000199.5:c.877C>T, NM_000199.5:c.757delG, NM_000199.5:c.752G>C, NM_000199.5:c.617G>C, NM_000199.5:c.466A>T, NM_000199.5:c.449G>A, NM_000199.5:c.416C>T, NM_000199.5:c.383C>T, NM_000199.5:c.364G>A, NM_000199.5:c.337_345delCAAGCTGGTinsGCACAGGTGAG, NM_000199.5:c.320delT, NM_000199.5:c.235A>C, NM_000199.5:c.220C>T, NM_000199.5:c.197C>G, NM_000199.5:c.130G>A
DISEASES
VARIANTS
NM_001365088.1:c.3031C>T, NM_001365088.1:c.2023C>T, NM_001365088.1:c.1584_1585delCTinsG, NM_001365088.1:c.619C>T, NM_001365088.1:c.366T>G, NM_001365088.1:c.316+1G>A
DISEASES
VARIANTS
NM_012434.5:c.1259+1G>A, NM_012434.5:c.918T>G, NM_012434.5:c.500T>C, NM_012434.5:c.406A>G, NM_012434.5:c.115C>T, NM_012434.5:c.43G>T
DISEASES
VARIANTS
NM_014251.3:c.1813C>T, NM_014251.3:c.1801G>T, NM_014251.3:c.1801G>A, NM_014251.3:c.1799dupA, NM_014251.3:c.1592G>A, NM_014251.3:c.1411_1412delCT, NM_014251.3:c.1311+1G>A, NM_014251.3:c.1231-1G>A, NM_014251.3:c.1177+1G>A, NM_014251.3:c.1078C>T, NM_014251.3:c.852_855delTATG, NM_014251.3:c.674C>T, NM_014251.3:c.674C>A, NM_014251.3:c.615+5G>A, NM_014251.3:c.615+1G>C
DISEASES
VARIANTS
NM_014252.4:c.44C>T, NM_014252.4:c.110T>G, NM_014252.4:c.212T>A, NM_014252.4:c.535C>T, NM_014252.4:c.538G>A, NM_014252.4:c.553_555delTTC, NM_014252.4:c.569G>A, NM_014252.4:c.658G>A, NM_014252.4:c.815C>T, NM_014252.4:c.824G>A
DISEASES
VARIANTS
NM_000112.4:c.496G>A, NM_000112.4:c.532C>T, NM_000112.4:c.767T>C, NM_000112.4:c.832delC, NM_000112.4:c.835C>T, NM_000112.4:c.1010_1012delTTG, NM_000112.4:c.1273A>G, NM_000112.4:c.1361A>C, NM_000112.4:c.1535C>A, NM_000112.4:c.1723delA, NM_000112.4:c.1878delG, NM_000112.4:c.1957T>A, NM_000112.4:c.2033G>T
DISEASES
VARIANTS
NM_000441.2:c.269C>T, NM_000441.2:c.281C>T, NM_000441.2:c.412G>T, NM_000441.2:c.554G>C, NM_000441.2:c.563T>C, NM_000441.2:c.626G>T, NM_000441.2:c.707T>C, NM_000441.2:c.898A>C, NM_000441.2:c.915_916insG, NM_000441.2:c.918+2T>C, NM_000441.2:c.919-2A>G, NM_000441.2:c.961A>T, NM_000441.2:c.970A>T, NM_000441.2:c.1001G>T, NM_000441.2:c.1001+1G>T, NM_000441.2:c.1003T>C, NM_000441.2:c.1034T>A, NM_000441.2:c.1061T>C, NM_000441.2:c.1151A>G, NM_000441.2:c.1174A>T, NM_000441.2:c.1197delT, NM_000441.2:c.1226G>A, NM_000441.2:c.1229C>T, NM_000441.2:c.1246A>C, NM_000441.2:c.1263+1G>A, NM_000441.2:c.1334T>G, NM_000441.2:c.1454C>T, NM_000441.2:c.1468A>C, NM_000441.2:c.1489G>A, NM_000441.2:c.1634T>G, NM_000441.2:c.1707+5G>A, NM_000441.2:c.1790T>C, NM_000441.2:c.1826T>G, NM_000441.2:c.1975G>C, NM_000441.2:c.2048T>C, NM_000441.2:c.2131G>A, NM_000441.2:c.2162C>T, NM_000441.2:c.2168A>G, NM_000441.2:c.2211G>C
DISEASES
VARIANTS
NM_001467.6:c.1243C>T, NM_001467.6:c.1063G>T, NM_001467.6:c.1042_1043delCT, NM_001467.6:c.1016G>A, NM_001467.6:c.1015G>T, NM_001467.6:c.899G>A, NM_001467.6:c.706_708delGTG, NM_001467.6:c.593A>T, NM_001467.6:c.352T>C, NM_001467.6:c.287G>A, NM_001467.6:c.1124-2_1124-1delAG, NM_001467.6:c.83G>A
DISEASES
VARIANTS
NM_016180.5:c.1121delT, NM_016180.5:c.986delC, NM_016180.5:c.469G>A
DISEASES
VARIANTS
NM_001174089.2:c.2558G>A, NM_001174089.2:c.2557C>T, NM_001174089.2:c.2518A>G, NM_001174089.2:c.2480T>C, NM_001174089.2:c.2270C>T, NM_001174089.2:c.2216G>A, NM_001174089.2:c.2185_2192dupTATGACAC, NM_001174089.2:c.2176G>A, NM_001174089.2:c.1765C>T, NM_001174089.2:c.1418C>T, NM_001174089.2:c.1415G>A, NM_001174089.2:c.1343G>A, NM_001174089.2:c.990_991insA, NM_001174089.2:c.589T>C, NM_001174089.2:c.577C>T, NM_001174089.2:c.425_432delGCTTCGCC
DISEASES
VARIANTS
Exon 7del
DISEASES
VARIANTS
NM_000543.5:c.96G>A, NM_000543.5:c.100_116delGGCCTGGTGCTGGCGCT, NM_000543.5:c.103_107delCTGGT, NM_000543.5:c.103_118delCTGGTGCTGGCGCTGG, NM_000543.5:c.105delG, NM_000543.5:c.353delC, NM_000543.5:c.475T>C, NM_000543.5:c.551C>T, NM_000543.5:c.558_574delGCCCCCCAAACCCCCTA, NM_000543.5:c.557C>T, NM_000543.5:c.558_559insC, NM_000543.5:c.559delC, NM_000543.5:c.573delT, NM_000543.5:c.688C>T, NM_000543.5:c.689G>A, NM_000543.5:c.730G>A, NM_000543.5:c.737delG, NM_000543.5:c.739G>A, NM_000543.5:c.742G>A, NM_000543.5:c.757G>C, NM_000543.5:c.781_803delAGCCTGTTGAGTGGGCTGGGCCC, NM_000543.5:c.788T>A, NM_000543.5:c.839_840insCATCCCCG, NM_000543.5:c.911T>C, NM_000543.5:c.940G>A, NM_000543.5:c.991delC, NM_000543.5:c.995C>G, NM_000543.5:c.1092-1G>C, NM_000543.5:c.1117C>T, NM_000543.5:c.1152G>A, NM_000543.5:c.1264-1G>T, NM_000543.5:c.1267C>T, NM_000543.5:c.1299T>G, NM_000543.5:c.1327C>T, NM_000543.5:c.1418_1419delCT, NM_000543.5:c.1426C>T, NM_000543.5:c.1624C>T, NM_000543.5:c.1628delA, NM_000543.5:c.1805G>A, NM_000543.5:c.1826_1828delGCC
DISEASES
VARIANTS
NM_000349.3:c.772C>T, NM_000349.3:c.749G>A, NM_000349.3:c.577C>T, NM_000349.3:c.562C>T, NM_000349.3:c.559G>A, NM_000349.3:c.545G>T, NM_000349.3:c.545G>A
DISEASES
VARIANTS
NM_153700.2:c.5188C>T, NM_153700.2:c.5185C>T, NM_153700.2:c.5168_5171delTTCT, NM_153700.2:c.4545+1G>C, NM_153700.2:c.3556C>T
DISEASES
VARIANTS
NM_000353.3:c.1297C>T, NM_000353.3:c.1249C>T, NM_000353.3:c.668C>G, NM_000353.3:c.236-5A>G, NM_000353.3:c.169C>T
DISEASES
VARIANTS
NM_006019.4:c.112_113delAG, NM_006019.4:c.179A>G, NM_006019.4:c.1213G>A, NM_006019.4:c.1331G>T, NM_006019.4:c.1674-1G>A, NM_006019.4:c.2236+1G>A, NM_006019.4:c.2415-3C>G
DISEASES
VARIANTS
NM_003227.4:c.2374G>A, NM_003227.4:c.2343G>A, NM_003227.4:c.2014C>T, NM_003227.4:c.1861_1872delGCCGTGGCCCAG, NM_003227.4:c.1665delC, NM_003227.4:c.1632_1633delGA, NM_003227.4:c.1473+1G>A, NM_003227.4:c.1469T>G, NM_003227.4:c.1403G>A, NM_003227.4:c.1330G>A, NM_003227.4:c.1235_1237delACA, NM_003227.4:c.1186C>T, NM_003227.4:c.949C>T, NM_003227.4:c.840C>G, NM_003227.4:c.750C>G, NM_003227.4:c.515T>A, NM_003227.4:c.313C>T
DISEASES
VARIANTS
NM_000360.4:c.1388C>T, NM_000360.4:c.1141C>A, NM_000360.4:c.917G>A, NM_000360.4:c.733A>C, NM_000360.4:c.614T>C, NM_000360.4:c.605G>A
DISEASES
VARIANTS
NM_138691.3:c.100C>T, NM_138691.3:c.425G>A, NM_138691.3:c.454-1G>C, NM_138691.3:c.1165C>T, NM_138691.3:c.1763+3A>G, NM_138691.3:c.1842G>A, NM_138691.3:c.1960A>G
DISEASES
VARIANTS
NM_001173990.3:c.78_81delGAAC, NM_001173990.3:c.218G>A, NM_001173990.3:c.218G>T, NM_001173990.3:c.230G>C, NM_001173990.3:c.253C>T, NM_001173990.3:c.341T>G
DISEASES
VARIANTS
NM_000391.4:c.1340G>A, NM_000391.4:c.1093T>C, NM_000391.4:c.851G>T, NM_000391.4:c.827A>T, NM_000391.4:c.622C>T, NM_000391.4:c.616C>T, NM_000391.4:c.509-1G>C, NM_000391.4:c.141_144delGAGT
DISEASES
VARIANTS
NM_033629.6:c.341G>A, NM_033629.6:c.490C>T
DISEASES
VARIANTS
NM_012210.4:c.1459G>A, NM_012210.4:c.1559delC
DISEASES
VARIANTS
NM_015294.6:c.2212delG, NM_015294.6:c.2056C>T, NM_015294.6:c.1668-1G>C, NM_015294.6:c.1478_1479delAG, NM_015294.6:c.1411C>T, NM_015294.6:c.1346dupA, NM_015294.6:c.1037_1040dupAGAT, NM_015294.6:c.965G>T, NM_015294.6:c.745C>T, NM_015294.6:c.496_500delAGGAA, NM_015294.6:c.326G>C, NM_015294.6:c.227T>C
DISEASES
VARIANTS
NM_207346.3:c.670_671delAA, NM_207346.3:c.736C>T, NM_207346.3:c.887G>A, NM_207346.3:c.919G>T, NM_207346.3:c.1027C>T, NM_207346.3:c.1039A>T
DISEASES
VARIANTS
NM_005726.6:c.1_2delAT, NM_005726.6:c.21_22delGC, NM_005726.6:c.517delC, NM_005726.6:c.856C>T
DISEASES
VARIANTS
NM_000549.5:c.94G>T, NM_000549.5:c.145G>A, NM_000549.5:c.205C>T
DISEASES
VARIANTS
NM_000369.5:c.100G>A, NM_000369.5:c.122G>C, NM_000369.5:c.202C>T, NM_000369.5:c.326G>A, NM_000369.5:c.484C>G, NM_000369.5:c.500T>A, NM_000369.5:c.1170T>G, NM_000369.5:c.1741_1742insC
DISEASES
VARIANTS
NM_001267550.2:c.107889delA, NM_001267550.2:c.106070_106071delAT, NM_001267550.2:c.104092delC, NM_001267550.2:c.104092C>T, NM_001267550.2:c.102271C>T, NM_001267550.2:c.98818_98821delTCCA, NM_001267550.2:c.92373_92379delTGAATTC, NM_001267550.2:c.69344C>G, NM_001267550.2:c.60681dupT, NM_001267550.2:c.56648-1G>A, NM_001267550.2:c.52372delG, NM_001267550.2:c.48253delA, NM_001267550.2:c.47915dupT, NM_001267550.2:c.39082G>A, NM_001267550.2:c.32471-1G>A, NM_001267550.2:c.28300_28303delAGCA, NM_001267550.2:c.25978G>A, NM_001267550.2:c.16881C>A, NM_001267550.2:c.15796C>T, NM_001267550.2:c.4724_4728delTGAAA, NM_001267550.2:c.3165-1G>T
DISEASES
VARIANTS
NM_000370.3:c.744delA, NM_000370.3:c.661C>T, NM_000370.3:c.575G>A
DISEASES
VARIANTS
NM_000372.5:c.1A>G, NM_000372.5:c.115T>G, NM_000372.5:c.140G>A, NM_000372.5:c.164G>A, NM_000372.5:c.230G>A, NM_000372.5:c.242C>T, NM_000372.5:c.265T>C, NM_000372.5:c.272G>A, NM_000372.5:c.285_286insA, NM_000372.5:c.325G>A, NM_000372.5:c.533G>A, NM_000372.5:c.568delG, NM_000372.5:c.616G>A, NM_000372.5:c.646T>A, NM_000372.5:c.650G>A, NM_000372.5:c.823G>T, NM_000372.5:c.896G>A, NM_000372.5:c.1012_1013insC, NM_000372.5:c.1111A>G, NM_000372.5:c.1118C>A, NM_000372.5:c.1146C>A, NM_000372.5:c.1147G>A, NM_000372.5:c.1163delT, NM_000372.5:c.1177delG, NM_000372.5:c.1209G>T, NM_000372.5:c.1217C>T, NM_000372.5:c.1255G>A, NM_000372.5:c.1265G>A, NM_000372.5:c.1336G>A, NM_000372.5:c.1342G>A, NM_000372.5:c.1466_1467insT, NM_000372.5:c.1500_1501insC
DISEASES
VARIANTS
NM_000550.3:c.105delT, NM_000550.3:c.176C>G, NM_000550.3:c.497C>G, NM_000550.3:c.1054_1057delACAA, NM_000550.3:c.1067G>A, NM_000550.3:c.1101delA, NM_000550.3:c.1120C>T, NM_000550.3:c.1369_1370insCAGA, NM_000550.3:c.1557T>G
DISEASES
VARIANTS
NM_000463.3:c.44T>G, NM_000463.3:c.524T>A, NM_000463.3:c.674T>G
DISEASES
VARIANTS
NM_019076.5:c.1012C>T, NM_019076.5:c.1061A>G, NM_019076.5:c.1121G>T, NM_019076.5:c.1198C>T, NM_019076.5:c.1202T>C, NM_019076.5:c.1447T>G
DISEASES
VARIANTS
NM_153676.4:c.2688_2695dupAATTCACC, NM_153676.4:c.2622_2623delCA, NM_153676.4:c.2547-1G>T, NM_153676.4:c.2362G>A, NM_153676.4:c.388G>A, NM_153676.4:c.238delC, NM_153676.4:c.238dupC, NM_153676.4:c.216G>A
DISEASES
VARIANTS
NM_206933.4:c.15520-1G>A, NM_206933.4:c.15371delT, NM_206933.4:c.15089C>A, NM_206933.4:c.14926G>A, NM_206933.4:c.14803C>T, NM_206933.4:c.14519T>C, NM_206933.4:c.14442C>A, NM_206933.4:c.13709delG, NM_206933.4:c.12574C>T, NM_206933.4:c.12234_12235delGA, NM_206933.4:c.11864G>A, NM_206933.4:c.11549-5_11549-4insT, NM_206933.4:c.10636G>A, NM_206933.4:c.10561T>C, NM_206933.4:c.10073G>A, NM_206933.4:c.9799T>C, NM_206933.4:c.8981G>A, NM_206933.4:c.8431C>A, NM_206933.4:c.7364G>A, NM_206933.4:c.6862G>T, NM_206933.4:c.6670G>T, NM_206933.4:c.5975A>G, NM_206933.4:c.5743_5744delAG, NM_206933.4:c.5573-2A>G, NM_206933.4:c.4338_4339delCT, NM_206933.4:c.3491_3492delCT, NM_206933.4:c.2898delG, NM_206933.4:c.2299delG, NM_206933.4:c.2296T>C, NM_206933.4:c.2276G>T, NM_206933.4:c.2167+5G>A, NM_206933.4:c.2135delC, NM_206933.4:c.956G>A, NM_206933.4:c.920_923dupGCCA, NM_206933.4:c.820C>T, NM_206933.4:c.779T>G
DISEASES
VARIANTS
NM_033305.3:c.622C>T, NM_033305.3:c.2898T>G, NM_033305.3:c.3091delG, NM_033305.3:c.9109C>T, NM_033305.3:c.9275+1G>T
DISEASES
VARIANTS
NM_000377.3:c.134C>T, NM_000377.3:c.173C>G, NM_000377.3:c.809T>C, NM_000377.3:c.814T>C, NM_000377.3:c.881T>C, NM_000377.3:c.1442T>A
DISEASES
VARIANTS
NM_025216.3:c.321C>A, NM_025216.3:c.347T>C, NM_025216.3:c.383G>A, NM_025216.3:c.697G>T
DISEASES
VARIANTS
NM_000380.4:c.731A>G, NM_000380.4:c.727C>T, NM_000380.4:c.619C>T, NM_000380.4:c.501delG, NM_000380.4:c.348T>A, NM_000380.4:c.323G>T
DISEASES
VARIANTS
NM_015346.4:c.5485-1G>A, NM_015346.4:c.5422C>T, NM_015346.4:c.4936C>T, NM_015346.4:c.4312C>T, NM_015346.4:c.3642_3643insCCACACTTAG, NM_015346.4:c.3206G>A, NM_015346.4:c.3182delT, NM_015346.4:c.2887G>C, NM_015346.4:c.2114dupC, NM_015346.4:c.1477C>T
