Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77935936T>ACA418709426NEXNc.1365T>A (p.Ile455=)
c.1173T>A (p.Ile391=)
c.1064T>A
n.825T>A
n.939T>A
c.1323T>A (p.Ile441=)
c.1251+2457T>A (n.1251+2457T>A)
c.1131T>A (p.Ile377=)
c.948T>A (p.Ile316=)
1g.77935936T>CCA418709427NEXNc.1365T>C (p.Ile455=)
c.1173T>C (p.Ile391=)
c.1064T>C
n.825T>C
n.939T>C
c.1323T>C (p.Ile441=)
c.1251+2457T>C (n.1251+2457T>C)
c.1131T>C (p.Ile377=)
c.948T>C (p.Ile316=)
gnomAD v4
1g.77935936T>GCA340879023NEXNc.1365T>G (p.Ile455Met)
c.1173T>G (p.Ile391Met)
c.1064T>G
n.825T>G
n.939T>G
c.1323T>G (p.Ile441Met)
c.1251+2457T>G (n.1251+2457T>G)
c.1131T>G (p.Ile377Met)
c.948T>G (p.Ile316Met)
1g.77935937G>ACA142107NEXNc.1366G>A (p.Gly456Arg)
c.1174G>A (p.Gly392Arg)
c.1065G>A
n.826G>A
n.940G>A
c.1324G>A (p.Gly442Arg)
c.1251+2458G>A (n.1251+2458G>A)
c.1132G>A (p.Gly378Arg)
c.949G>A (p.Gly317Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935937G>CCA340879026NEXNc.1366G>C (p.Gly456Arg)
c.1174G>C (p.Gly392Arg)
c.1065G>C
n.826G>C
n.940G>C
c.1324G>C (p.Gly442Arg)
c.1251+2458G>C (n.1251+2458G>C)
c.1132G>C (p.Gly378Arg)
c.949G>C (p.Gly317Arg)
1g.77935937G=CA1144228872NEXNc.1366G= (p.Gly456=)
c.1174G= (p.Gly392=)
c.1065G=
n.826G=
n.940G=
c.1324G= (p.Gly442=)
c.1251+2458G= (n.1251+2458G=)
c.1132G= (p.Gly378=)
c.949G= (p.Gly317=)
1g.77935937G>TCA340879028NEXNc.1366G>T (p.Gly456Ter)
c.1174G>T (p.Gly392Ter)
c.1065G>T
n.826G>T
n.940G>T
c.1324G>T (p.Gly442Ter)
c.1251+2458G>T (n.1251+2458G>T)
c.1132G>T (p.Gly378Ter)
c.949G>T (p.Gly317Ter)
1g.77935938G>ACA340879031NEXNc.1367G>A (p.Gly456Glu)
c.1175G>A (p.Gly392Glu)
c.1066G>A
n.827G>A
n.941G>A
c.1325G>A (p.Gly442Glu)
c.1251+2459G>A (n.1251+2459G>A)
c.1133G>A (p.Gly378Glu)
c.950G>A (p.Gly317Glu)
COSMIC COSMIC
1g.77935938G>CCA340879032NEXNc.1367G>C (p.Gly456Ala)
c.1175G>C (p.Gly392Ala)
c.1066G>C
n.827G>C
n.941G>C
c.1325G>C (p.Gly442Ala)
c.1251+2459G>C (n.1251+2459G>C)
c.1133G>C (p.Gly378Ala)
c.950G>C (p.Gly317Ala)
1g.77935938G>TCA340879038NEXNc.1367G>T (p.Gly456Val)
c.1175G>T (p.Gly392Val)
c.1066G>T
n.827G>T
n.941G>T
c.1325G>T (p.Gly442Val)
c.1251+2459G>T (n.1251+2459G>T)
c.1133G>T (p.Gly378Val)
c.950G>T (p.Gly317Val)
1g.77935939A=CA1144228873NEXNc.1368A= (p.Gly456=)
c.1176A= (p.Gly392=)
c.1067A=
n.828A=
n.942A=
c.1326A= (p.Gly442=)
c.1251+2460A= (n.1251+2460A=)
c.1134A= (p.Gly378=)
c.951A= (p.Gly317=)
1g.77935939A>CCA142110NEXNc.1368A>C (p.Gly456=)
c.1176A>C (p.Gly392=)
c.1067A>C
n.828A>C
n.942A>C
c.1326A>C (p.Gly442=)
c.1251+2460A>C (n.1251+2460A>C)
c.1134A>C (p.Gly378=)
c.951A>C (p.Gly317=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935939A>GCA418709428NEXNc.1368A>G (p.Gly456=)
c.1176A>G (p.Gly392=)
c.1067A>G
n.828A>G
n.942A>G
c.1326A>G (p.Gly442=)
c.1251+2460A>G (n.1251+2460A>G)
c.1134A>G (p.Gly378=)
c.951A>G (p.Gly317=)
ClinVar dbSNP
1g.77935939A>TCA418709430NEXNc.1368A>T (p.Gly456=)
c.1176A>T (p.Gly392=)
c.1067A>T
n.828A>T
n.942A>T
c.1326A>T (p.Gly442=)
c.1251+2460A>T (n.1251+2460A>T)
c.1134A>T (p.Gly378=)
c.951A>T (p.Gly317=)
1g.77935940_77935941delCA2744232142NEXNc.1369_1370del (p.Gln457ValfsTer3)
c.1177_1178del (p.Gln393ValfsTer3)
c.1068_1069del
n.829_830del
n.943_944del
c.1327_1328del (p.Gln443ValfsTer3)
c.1251+2461_1251+2462del (n.1251+2461_1251+2462del)
c.1135_1136del (p.Gln379ValfsTer3)
c.952_953del (p.Gln318ValfsTer3)
1g.77935940C>ACA340879043NEXNc.1369C>A (p.Gln457Lys)
c.1177C>A (p.Gln393Lys)
c.1068C>A
n.829C>A
n.943C>A
c.1327C>A (p.Gln443Lys)
c.1251+2461C>A (n.1251+2461C>A)
c.1135C>A (p.Gln379Lys)
c.952C>A (p.Gln318Lys)
1g.77935940C>GCA340879048NEXNc.1369C>G (p.Gln457Glu)
c.1177C>G (p.Gln393Glu)
c.1068C>G
n.829C>G
n.943C>G
c.1327C>G (p.Gln443Glu)
c.1251+2461C>G (n.1251+2461C>G)
c.1135C>G (p.Gln379Glu)
c.952C>G (p.Gln318Glu)
gnomAD v4
1g.77935940C>TCA340879050NEXNc.1369C>T (p.Gln457Ter)
c.1177C>T (p.Gln393Ter)
c.1068C>T
n.829C>T
n.943C>T
c.1327C>T (p.Gln443Ter)
c.1251+2461C>T (n.1251+2461C>T)
c.1135C>T (p.Gln379Ter)
c.952C>T (p.Gln318Ter)
1g.77935940dupCA1003482936NEXNc.1369dup (p.Gln457ProfsTer4)
c.1177dup (p.Gln393ProfsTer4)
c.1068dup
n.829dup
n.943dup
c.1327dup (p.Gln443ProfsTer4)
c.1251+2461dup (n.1251+2461dup)
c.1135dup (p.Gln379ProfsTer4)
c.952dup (p.Gln318ProfsTer4)
dbSNP gnomAD v3 gnomAD v4
1g.77935941A>CCA340879052NEXNc.1370A>C (p.Gln457Pro)
c.1178A>C (p.Gln393Pro)
c.1069A>C
n.830A>C
n.944A>C
c.1328A>C (p.Gln443Pro)
c.1251+2462A>C (n.1251+2462A>C)
c.1136A>C (p.Gln379Pro)
c.953A>C (p.Gln318Pro)
1g.77935941A>GCA340879058NEXNc.1370A>G (p.Gln457Arg)
c.1178A>G (p.Gln393Arg)
c.1069A>G
n.830A>G
n.944A>G
c.1328A>G (p.Gln443Arg)
c.1251+2462A>G (n.1251+2462A>G)
c.1136A>G (p.Gln379Arg)
c.953A>G (p.Gln318Arg)
1g.77935941A>TCA340879056NEXNc.1370A>T (p.Gln457Leu)
c.1178A>T (p.Gln393Leu)
c.1069A>T
n.830A>T
n.944A>T
c.1328A>T (p.Gln443Leu)
c.1251+2462A>T (n.1251+2462A>T)
c.1136A>T (p.Gln379Leu)
c.953A>T (p.Gln318Leu)
1g.77935942G>ACA418709431NEXNc.1371G>A (p.Gln457=)
c.1179G>A (p.Gln393=)
c.1070G>A
n.831G>A
n.945G>A
c.1329G>A (p.Gln443=)
c.1251+2463G>A (n.1251+2463G>A)
c.1137G>A (p.Gln379=)
c.954G>A (p.Gln318=)
dbSNP
1g.77935942G>CCA340879068NEXNc.1371G>C (p.Gln457His)
c.1179G>C (p.Gln393His)
c.1070G>C
n.831G>C
n.945G>C
c.1329G>C (p.Gln443His)
c.1251+2463G>C (n.1251+2463G>C)
c.1137G>C (p.Gln379His)
c.954G>C (p.Gln318His)
1g.77935942G>TCA340879072NEXNc.1371G>T (p.Gln457His)
c.1179G>T (p.Gln393His)
c.1070G>T
n.831G>T
n.945G>T
c.1329G>T (p.Gln443His)
c.1251+2463G>T (n.1251+2463G>T)
c.1137G>T (p.Gln379His)
c.954G>T (p.Gln318His)
1g.77935943T>ACA340879074NEXNc.1372T>A (p.Leu458Met)
c.1180T>A (p.Leu394Met)
c.1071T>A
n.832T>A
n.946T>A
c.1330T>A (p.Leu444Met)
c.1251+2464T>A (n.1251+2464T>A)
c.1138T>A (p.Leu380Met)
c.955T>A (p.Leu319Met)
gnomAD v4
1g.77935943T>CCA418709433NEXNc.1372T>C (p.Leu458=)
c.1180T>C (p.Leu394=)
c.1071T>C
n.832T>C
n.946T>C
c.1330T>C (p.Leu444=)
c.1251+2464T>C (n.1251+2464T>C)
c.1138T>C (p.Leu380=)
c.955T>C (p.Leu319=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77935943T>GCA340879077NEXNc.1372T>G (p.Leu458Val)
c.1180T>G (p.Leu394Val)
c.1071T>G
n.832T>G
n.946T>G
c.1330T>G (p.Leu444Val)
c.1251+2464T>G (n.1251+2464T>G)
c.1138T>G (p.Leu380Val)
c.955T>G (p.Leu319Val)
1g.77935943T=CA1177628310NEXNc.1372T= (p.Leu458=)
c.1180T= (p.Leu394=)
c.1071T=
n.832T=
n.946T=
c.1330T= (p.Leu444=)
c.1251+2464T= (n.1251+2464T=)
c.1138T= (p.Leu380=)
c.955T= (p.Leu319=)
1g.77935944T>ACA340879079NEXNc.1373T>A (p.Leu458Ter)
c.1181T>A (p.Leu394Ter)
c.1072T>A
n.833T>A
n.947T>A
c.1331T>A (p.Leu444Ter)
c.1251+2465T>A (n.1251+2465T>A)
c.1139T>A (p.Leu380Ter)
c.956T>A (p.Leu319Ter)
1g.77935944T>CCA340879090NEXNc.1373T>C (p.Leu458Ser)
c.1181T>C (p.Leu394Ser)
c.1072T>C
n.833T>C
n.947T>C
c.1331T>C (p.Leu444Ser)
c.1251+2465T>C (n.1251+2465T>C)
c.1139T>C (p.Leu380Ser)
c.956T>C (p.Leu319Ser)
1g.77935944T>GCA340879087NEXNc.1373T>G (p.Leu458Trp)
c.1181T>G (p.Leu394Trp)
c.1072T>G
n.833T>G
n.947T>G
c.1331T>G (p.Leu444Trp)
c.1251+2465T>G (n.1251+2465T>G)
c.1139T>G (p.Leu380Trp)
c.956T>G (p.Leu319Trp)
1g.77935945G>ACA418709434NEXNc.1374G>A (p.Leu458=)
c.1182G>A (p.Leu394=)
c.1073G>A
n.834G>A
n.948G>A
c.1332G>A (p.Leu444=)
c.1251+2466G>A (n.1251+2466G>A)
c.1140G>A (p.Leu380=)
c.957G>A (p.Leu319=)
1g.77935945G>CCA340879092NEXNc.1374G>C (p.Leu458Phe)
c.1182G>C (p.Leu394Phe)
c.1073G>C
n.834G>C
n.948G>C
c.1332G>C (p.Leu444Phe)
c.1251+2466G>C (n.1251+2466G>C)
c.1140G>C (p.Leu380Phe)
c.957G>C (p.Leu319Phe)
1g.77935945G=CA1177628311NEXNc.1374G= (p.Leu458=)
c.1182G= (p.Leu394=)
c.1073G=
n.834G=
n.948G=
c.1332G= (p.Leu444=)
c.1251+2466G= (n.1251+2466G=)
c.1140G= (p.Leu380=)
c.957G= (p.Leu319=)
1g.77935945G>TCA24686520NEXNc.1374G>T (p.Leu458Phe)
c.1182G>T (p.Leu394Phe)
c.1073G>T
n.834G>T
n.948G>T
c.1332G>T (p.Leu444Phe)
c.1251+2466G>T (n.1251+2466G>T)
c.1140G>T (p.Leu380Phe)
c.957G>T (p.Leu319Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935946T>ACA340879098NEXNc.1375T>A (p.Ser459Thr)
c.1183T>A (p.Ser395Thr)
c.1074T>A
n.835T>A
n.949T>A
c.1333T>A (p.Ser445Thr)
c.1251+2467T>A (n.1251+2467T>A)
c.1141T>A (p.Ser381Thr)
c.958T>A (p.Ser320Thr)
1g.77935946T>CCA918865NEXNc.1375T>C (p.Ser459Pro)
c.1183T>C (p.Ser395Pro)
c.1074T>C
n.835T>C
n.949T>C
c.1333T>C (p.Ser445Pro)
c.1251+2467T>C (n.1251+2467T>C)
c.1141T>C (p.Ser381Pro)
c.958T>C (p.Ser320Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935946T>GCA340879101NEXNc.1375T>G (p.Ser459Ala)
c.1183T>G (p.Ser395Ala)
c.1074T>G
n.835T>G
n.949T>G
c.1333T>G (p.Ser445Ala)
c.1251+2467T>G (n.1251+2467T>G)
c.1141T>G (p.Ser381Ala)
c.958T>G (p.Ser320Ala)
1g.77935946T=CA1177628312NEXNc.1375T= (p.Ser459=)
c.1183T= (p.Ser395=)
c.1074T=
n.835T=
n.949T=
c.1333T= (p.Ser445=)
c.1251+2467T= (n.1251+2467T=)
c.1141T= (p.Ser381=)
c.958T= (p.Ser320=)
1g.77935947C>ACA340879104NEXNc.1376C>A (p.Ser459Tyr)
c.1184C>A (p.Ser395Tyr)
c.1075C>A
n.836C>A
n.950C>A
c.1334C>A (p.Ser445Tyr)
c.1251+2468C>A (n.1251+2468C>A)
c.1142C>A (p.Ser381Tyr)
c.959C>A (p.Ser320Tyr)
1g.77935947C>GCA340879109NEXNc.1376C>G (p.Ser459Cys)
c.1184C>G (p.Ser395Cys)
c.1075C>G
n.836C>G
n.950C>G
c.1334C>G (p.Ser445Cys)
c.1251+2468C>G (n.1251+2468C>G)
c.1142C>G (p.Ser381Cys)
c.959C>G (p.Ser320Cys)
COSMIC
1g.77935947C>TCA340879119NEXNc.1376C>T (p.Ser459Phe)
c.1184C>T (p.Ser395Phe)
c.1075C>T
n.836C>T
n.950C>T
c.1334C>T (p.Ser445Phe)
c.1251+2468C>T (n.1251+2468C>T)
c.1142C>T (p.Ser381Phe)
c.959C>T (p.Ser320Phe)
gnomAD v4
1g.77935948T>ACA418709435NEXNc.1377T>A (p.Ser459=)
c.1185T>A (p.Ser395=)
c.1076T>A
n.837T>A
n.951T>A
c.1335T>A (p.Ser445=)
c.1251+2469T>A (n.1251+2469T>A)
c.1143T>A (p.Ser381=)
c.960T>A (p.Ser320=)
ClinVar dbSNP gnomAD v4
1g.77935948T>CCA418709436NEXNc.1377T>C (p.Ser459=)
c.1185T>C (p.Ser395=)
c.1076T>C
n.837T>C
n.951T>C
c.1335T>C (p.Ser445=)
c.1251+2469T>C (n.1251+2469T>C)
c.1143T>C (p.Ser381=)
c.960T>C (p.Ser320=)
dbSNP
1g.77935948T>GCA418709437NEXNc.1377T>G (p.Ser459=)
c.1185T>G (p.Ser395=)
c.1076T>G
n.837T>G
n.951T>G
c.1335T>G (p.Ser445=)
c.1251+2469T>G (n.1251+2469T>G)
c.1143T>G (p.Ser381=)
c.960T>G (p.Ser320=)
1g.77935949G>ACA340879124NEXNc.1378G>A (p.Glu460Lys)
c.1186G>A (p.Glu396Lys)
c.1077G>A
n.838G>A
n.952G>A
c.1336G>A (p.Glu446Lys)
c.1251+2470G>A (n.1251+2470G>A)
c.1144G>A (p.Glu382Lys)
c.961G>A (p.Glu321Lys)
1g.77935949G>CCA340879126NEXNc.1378G>C (p.Glu460Gln)
c.1186G>C (p.Glu396Gln)
c.1077G>C
n.838G>C
n.952G>C
c.1336G>C (p.Glu446Gln)
c.1251+2470G>C (n.1251+2470G>C)
c.1144G>C (p.Glu382Gln)
c.961G>C (p.Glu321Gln)
1g.77935949G>TCA340879127NEXNc.1378G>T (p.Glu460Ter)
c.1186G>T (p.Glu396Ter)
c.1077G>T
n.838G>T
n.952G>T
c.1336G>T (p.Glu446Ter)
c.1251+2470G>T (n.1251+2470G>T)
c.1144G>T (p.Glu382Ter)
c.961G>T (p.Glu321Ter)
1g.77935950A>CCA340879130NEXNc.1379A>C (p.Glu460Ala)
c.1187A>C (p.Glu396Ala)
c.1078A>C
n.839A>C
n.953A>C
c.1337A>C (p.Glu446Ala)
c.1251+2471A>C (n.1251+2471A>C)
c.1145A>C (p.Glu382Ala)
c.962A>C (p.Glu321Ala)
1g.77935950A>GCA340879134NEXNc.1379A>G (p.Glu460Gly)
c.1187A>G (p.Glu396Gly)
c.1078A>G
n.839A>G
n.953A>G
c.1337A>G (p.Glu446Gly)
c.1251+2471A>G (n.1251+2471A>G)
c.1145A>G (p.Glu382Gly)
c.962A>G (p.Glu321Gly)
1g.77935950A>TCA340879133NEXNc.1379A>T (p.Glu460Val)
c.1187A>T (p.Glu396Val)
c.1078A>T
n.839A>T
n.953A>T
c.1337A>T (p.Glu446Val)
c.1251+2471A>T (n.1251+2471A>T)
c.1145A>T (p.Glu382Val)
c.962A>T (p.Glu321Val)
1g.77935954delCA645529041NEXNc.1383del (p.Glu462LysfsTer6)
c.1191del (p.Glu398LysfsTer6)
c.1082del
n.843del
n.957del
c.1341del (p.Glu448LysfsTer6)
c.1251+2475del (n.1251+2475del)
c.1149del (p.Glu384LysfsTer6)
c.966del (p.Glu323LysfsTer6)
COSMIC COSMIC
1g.77935951A>CCA340879137NEXNc.1380A>C (p.Glu460Asp)
c.1188A>C (p.Glu396Asp)
c.1079A>C
n.840A>C
n.954A>C
c.1338A>C (p.Glu446Asp)
c.1251+2472A>C (n.1251+2472A>C)
c.1146A>C (p.Glu382Asp)
c.963A>C (p.Glu321Asp)
1g.77935951A>GCA418709438NEXNc.1380A>G (p.Glu460=)
c.1188A>G (p.Glu396=)
c.1079A>G
n.840A>G
n.954A>G
c.1338A>G (p.Glu446=)
c.1251+2472A>G (n.1251+2472A>G)
c.1146A>G (p.Glu382=)
c.963A>G (p.Glu321=)
1g.77935951A>TCA340879139NEXNc.1380A>T (p.Glu460Asp)
c.1188A>T (p.Glu396Asp)
c.1079A>T
n.840A>T
n.954A>T
c.1338A>T (p.Glu446Asp)
c.1251+2472A>T (n.1251+2472A>T)
c.1146A>T (p.Glu382Asp)
c.963A>T (p.Glu321Asp)
1g.77935952A>CCA340879145NEXNc.1381A>C (p.Lys461Gln)
c.1189A>C (p.Lys397Gln)
c.1080A>C
n.841A>C
n.955A>C
c.1339A>C (p.Lys447Gln)
c.1251+2473A>C (n.1251+2473A>C)
c.1147A>C (p.Lys383Gln)
c.964A>C (p.Lys322Gln)
1g.77935952A>GCA340879149NEXNc.1381A>G (p.Lys461Glu)
c.1189A>G (p.Lys397Glu)
c.1080A>G
n.841A>G
n.955A>G
c.1339A>G (p.Lys447Glu)
c.1251+2473A>G (n.1251+2473A>G)
c.1147A>G (p.Lys383Glu)
c.964A>G (p.Lys322Glu)
1g.77935952A>TCA340879148NEXNc.1381A>T (p.Lys461Ter)
c.1189A>T (p.Lys397Ter)
c.1080A>T
n.841A>T
n.955A>T
c.1339A>T (p.Lys447Ter)
c.1251+2473A>T (n.1251+2473A>T)
c.1147A>T (p.Lys383Ter)
c.964A>T (p.Lys322Ter)
1g.77935955_77935958delCA2573051621NEXNc.1384_1387del (p.Glu462TyrfsTer5)
c.1192_1195del (p.Glu398TyrfsTer5)
c.1083_1086del
n.844_847del
n.958_961del
c.1342_1345del (p.Glu448TyrfsTer5)
c.1251+2476_1251+2479del (n.1251+2476_1251+2479del)
c.1150_1153del (p.Glu384TyrfsTer5)
c.967_970del (p.Glu323TyrfsTer5)
ClinVar dbSNP gnomAD v4
1g.77935953A=CA1177628313NEXNc.1382A= (p.Lys461=)
c.1190A= (p.Lys397=)
c.1081A=
n.842A=
n.956A=
c.1340A= (p.Lys447=)
c.1251+2474A= (n.1251+2474A=)
c.1148A= (p.Lys383=)
c.965A= (p.Lys322=)
1g.77935953A>CCA340879151NEXNc.1382A>C (p.Lys461Thr)
c.1190A>C (p.Lys397Thr)
c.1081A>C
n.842A>C
n.956A>C
c.1340A>C (p.Lys447Thr)
c.1251+2474A>C (n.1251+2474A>C)
c.1148A>C (p.Lys383Thr)
c.965A>C (p.Lys322Thr)
1g.77935953A>GCA340879153NEXNc.1382A>G (p.Lys461Arg)
c.1190A>G (p.Lys397Arg)
c.1081A>G
n.842A>G
n.956A>G
c.1340A>G (p.Lys447Arg)
c.1251+2474A>G (n.1251+2474A>G)
c.1148A>G (p.Lys383Arg)
c.965A>G (p.Lys322Arg)
1g.77935953A>TCA340879154NEXNc.1382A>T (p.Lys461Ile)
c.1190A>T (p.Lys397Ile)
c.1081A>T
n.842A>T
n.956A>T
c.1340A>T (p.Lys447Ile)
c.1251+2474A>T (n.1251+2474A>T)
c.1148A>T (p.Lys383Ile)
c.965A>T (p.Lys322Ile)
dbSNP gnomAD v2 gnomAD v4
1g.77935954A>CCA340879156NEXNc.1383A>C (p.Lys461Asn)
c.1191A>C (p.Lys397Asn)
c.1082A>C
n.843A>C
n.957A>C
c.1341A>C (p.Lys447Asn)
c.1251+2475A>C (n.1251+2475A>C)
c.1149A>C (p.Lys383Asn)
c.966A>C (p.Lys322Asn)
1g.77935954A>GCA418709439NEXNc.1383A>G (p.Lys461=)
c.1191A>G (p.Lys397=)
c.1082A>G
n.843A>G
n.957A>G
c.1341A>G (p.Lys447=)
c.1251+2475A>G (n.1251+2475A>G)
c.1149A>G (p.Lys383=)
c.966A>G (p.Lys322=)
ClinVar
1g.77935954A>TCA340879158NEXNc.1383A>T (p.Lys461Asn)
c.1191A>T (p.Lys397Asn)
c.1082A>T
n.843A>T
n.957A>T
c.1341A>T (p.Lys447Asn)
c.1251+2475A>T (n.1251+2475A>T)
c.1149A>T (p.Lys383Asn)
c.966A>T (p.Lys322Asn)
1g.77935955G>ACA24686551NEXNc.1384G>A (p.Glu462Lys)
c.1192G>A (p.Glu398Lys)
c.1083G>A
n.844G>A
n.958G>A
c.1342G>A (p.Glu448Lys)
c.1251+2476G>A (n.1251+2476G>A)
c.1150G>A (p.Glu384Lys)
c.967G>A (p.Glu323Lys)
dbSNP
1g.77935955G>CCA340879166NEXNc.1384G>C (p.Glu462Gln)
c.1192G>C (p.Glu398Gln)
c.1083G>C
n.844G>C
n.958G>C
c.1342G>C (p.Glu448Gln)
c.1251+2476G>C (n.1251+2476G>C)
c.1150G>C (p.Glu384Gln)
c.967G>C (p.Glu323Gln)
1g.77935955G=CA1177628315NEXNc.1384G= (p.Glu462=)
c.1192G= (p.Glu398=)
c.1083G=
n.844G=
n.958G=
c.1342G= (p.Glu448=)
c.1251+2476G= (n.1251+2476G=)
c.1150G= (p.Glu384=)
c.967G= (p.Glu323=)
1g.77935955G>TCA340879168NEXNc.1384G>T (p.Glu462Ter)
c.1192G>T (p.Glu398Ter)
c.1083G>T
n.844G>T
n.958G>T
c.1342G>T (p.Glu448Ter)
c.1251+2476G>T (n.1251+2476G>T)
c.1150G>T (p.Glu384Ter)
c.967G>T (p.Glu323Ter)
1g.77935955_77935956delinsGACA1177628314NEXNc.1384_1385delinsGA (p.Glu462=)
c.1192_1193delinsGA (p.Glu398=)
c.1083_1084delinsGA
n.844_845delinsGA
n.958_959delinsGA
c.1342_1343delinsGA (p.Glu448=)
c.1251+2476_1251+2477delinsGA (n.1251+2476_1251+2477delinsGA)
c.1150_1151delinsGA (p.Glu384=)
c.967_968delinsGA (p.Glu323=)
1g.77935956A=CA1177628316NEXNc.1385A= (p.Glu462=)
c.1193A= (p.Glu398=)
c.1084A=
n.845A=
n.959A=
c.1343A= (p.Glu448=)
c.1251+2477A= (n.1251+2477A=)
c.1151A= (p.Glu384=)
c.968A= (p.Glu323=)
1g.77935956A>CCA340879170NEXNc.1385A>C (p.Glu462Ala)
c.1193A>C (p.Glu398Ala)
c.1084A>C
n.845A>C
n.959A>C
c.1343A>C (p.Glu448Ala)
c.1251+2477A>C (n.1251+2477A>C)
c.1151A>C (p.Glu384Ala)
c.968A>C (p.Glu323Ala)
1g.77935956A>GCA340879172NEXNc.1385A>G (p.Glu462Gly)
c.1193A>G (p.Glu398Gly)
c.1084A>G
n.845A>G
n.959A>G
c.1343A>G (p.Glu448Gly)
c.1251+2477A>G (n.1251+2477A>G)
c.1151A>G (p.Glu384Gly)
c.968A>G (p.Glu323Gly)
1g.77935956A>TCA918867NEXNc.1385A>T (p.Glu462Val)
c.1193A>T (p.Glu398Val)
c.1084A>T
n.845A>T
n.959A>T
c.1343A>T (p.Glu448Val)
c.1251+2477A>T (n.1251+2477A>T)
c.1151A>T (p.Glu384Val)
c.968A>T (p.Glu323Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935958delCA918866NEXNc.1387del (p.Ile463TyrfsTer5)
c.1195del (p.Ile399TyrfsTer5)
c.1086del
n.847del
n.961del
c.1345del (p.Ile449TyrfsTer5)
c.1251+2479del (n.1251+2479del)
c.1153del (p.Ile385TyrfsTer5)
c.970del (p.Ile324TyrfsTer5)
dbSNP ExAC gnomAD v2
1g.77935957_77935958delCA2574414118NEXNc.1386_1387del (p.Glu462AspfsTer16)
c.1194_1195del (p.Glu398AspfsTer16)
c.1085_1086del
n.846_847del
n.960_961del
c.1344_1345del (p.Glu448AspfsTer16)
c.1251+2478_1251+2479del (n.1251+2478_1251+2479del)
c.1152_1153del (p.Glu384AspfsTer16)
c.969_970del (p.Glu323AspfsTer16)
1g.77935957A>CCA340879174NEXNc.1386A>C (p.Glu462Asp)
c.1194A>C (p.Glu398Asp)
c.1085A>C
n.846A>C
n.960A>C
c.1344A>C (p.Glu448Asp)
c.1251+2478A>C (n.1251+2478A>C)
c.1152A>C (p.Glu384Asp)
c.969A>C (p.Glu323Asp)
1g.77935957A>GCA418709440NEXNc.1386A>G (p.Glu462=)
c.1194A>G (p.Glu398=)
c.1085A>G
n.846A>G
n.960A>G
c.1344A>G (p.Glu448=)
c.1251+2478A>G (n.1251+2478A>G)
c.1152A>G (p.Glu384=)
c.969A>G (p.Glu323=)
1g.77935957A>TCA340879176NEXNc.1386A>T (p.Glu462Asp)
c.1194A>T (p.Glu398Asp)
c.1085A>T
n.846A>T
n.960A>T
c.1344A>T (p.Glu448Asp)
c.1251+2478A>T (n.1251+2478A>T)
c.1152A>T (p.Glu384Asp)
c.969A>T (p.Glu323Asp)
1g.77935958A=CA1177628317NEXNc.1387A= (p.Ile463=)
c.1195A= (p.Ile399=)
c.1086A=
n.847A=
n.961A=
c.1345A= (p.Ile449=)
c.1251+2479A= (n.1251+2479A=)
c.1153A= (p.Ile385=)
c.970A= (p.Ile324=)
1g.77935958A>CCA340879178NEXNc.1387A>C (p.Ile463Leu)
c.1195A>C (p.Ile399Leu)
c.1086A>C
n.847A>C
n.961A>C
c.1345A>C (p.Ile449Leu)
c.1251+2479A>C (n.1251+2479A>C)
c.1153A>C (p.Ile385Leu)
c.970A>C (p.Ile324Leu)
1g.77935958A>GCA340879179NEXNc.1387A>G (p.Ile463Val)
c.1195A>G (p.Ile399Val)
c.1086A>G
n.847A>G
n.961A>G
c.1345A>G (p.Ile449Val)
c.1251+2479A>G (n.1251+2479A>G)
c.1153A>G (p.Ile385Val)
c.970A>G (p.Ile324Val)
dbSNP gnomAD v4
1g.77935958A>TCA340879180NEXNc.1387A>T (p.Ile463Leu)
c.1195A>T (p.Ile399Leu)
c.1086A>T
n.847A>T
n.961A>T
c.1345A>T (p.Ile449Leu)
c.1251+2479A>T (n.1251+2479A>T)
c.1153A>T (p.Ile385Leu)
c.970A>T (p.Ile324Leu)
1g.77935959T>ACA340879182NEXNc.1388T>A (p.Ile463Lys)
c.1196T>A (p.Ile399Lys)
c.1087T>A
n.848T>A
n.962T>A
c.1346T>A (p.Ile449Lys)
c.1251+2480T>A (n.1251+2480T>A)
c.1154T>A (p.Ile385Lys)
c.971T>A (p.Ile324Lys)
1g.77935959T>CCA918868NEXNc.1388T>C (p.Ile463Thr)
c.1196T>C (p.Ile399Thr)
c.1087T>C
n.848T>C
n.962T>C
c.1346T>C (p.Ile449Thr)
c.1251+2480T>C (n.1251+2480T>C)
c.1154T>C (p.Ile385Thr)
c.971T>C (p.Ile324Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935959T>GCA340879183NEXNc.1388T>G (p.Ile463Arg)
c.1196T>G (p.Ile399Arg)
c.1087T>G
n.848T>G
n.962T>G
c.1346T>G (p.Ile449Arg)
c.1251+2480T>G (n.1251+2480T>G)
c.1154T>G (p.Ile385Arg)
c.971T>G (p.Ile324Arg)
1g.77935959T=CA1177628318NEXNc.1388T= (p.Ile463=)
c.1196T= (p.Ile399=)
c.1087T=
n.848T=
n.962T=
c.1346T= (p.Ile449=)
c.1251+2480T= (n.1251+2480T=)
c.1154T= (p.Ile385=)
c.971T= (p.Ile324=)
1g.77935960A>CCA418709441NEXNc.1389A>C (p.Ile463=)
c.1197A>C (p.Ile399=)
c.1088A>C
n.849A>C
n.963A>C
c.1347A>C (p.Ile449=)
c.1251+2481A>C (n.1251+2481A>C)
c.1155A>C (p.Ile385=)
c.972A>C (p.Ile324=)
1g.77935960A>GCA340879184NEXNc.1389A>G (p.Ile463Met)
c.1197A>G (p.Ile399Met)
c.1088A>G
n.849A>G
n.963A>G
c.1347A>G (p.Ile449Met)
c.1251+2481A>G (n.1251+2481A>G)
c.1155A>G (p.Ile385Met)
c.972A>G (p.Ile324Met)
gnomAD v4
1g.77935960A>TCA418709442NEXNc.1389A>T (p.Ile463=)
c.1197A>T (p.Ile399=)
c.1088A>T
n.849A>T
n.963A>T
c.1347A>T (p.Ile449=)
c.1251+2481A>T (n.1251+2481A>T)
c.1155A>T (p.Ile385=)
c.972A>T (p.Ile324=)
dbSNP
1g.77935961delCA2646274715NEXNc.1390del (p.Gln464ArgfsTer4)
c.1198del (p.Gln400ArgfsTer4)
c.1089del
n.850del
n.964del
c.1348del (p.Gln450ArgfsTer4)
c.1251+2482del (n.1251+2482del)
c.1156del (p.Gln386ArgfsTer4)
c.973del (p.Gln325ArgfsTer4)
gnomAD v4
1g.77935961C>ACA340879186NEXNc.1390C>A (p.Gln464Lys)
c.1198C>A (p.Gln400Lys)
c.1089C>A
n.850C>A
n.964C>A
c.1348C>A (p.Gln450Lys)
c.1251+2482C>A (n.1251+2482C>A)
c.1156C>A (p.Gln386Lys)
c.973C>A (p.Gln325Lys)
1g.77935961C>GCA340879188NEXNc.1390C>G (p.Gln464Glu)
c.1198C>G (p.Gln400Glu)
c.1089C>G
n.850C>G
n.964C>G
c.1348C>G (p.Gln450Glu)
c.1251+2482C>G (n.1251+2482C>G)
c.1156C>G (p.Gln386Glu)
c.973C>G (p.Gln325Glu)
1g.77935961C>TCA340879189NEXNc.1390C>T (p.Gln464Ter)
c.1198C>T (p.Gln400Ter)
c.1089C>T
n.850C>T
n.964C>T
c.1348C>T (p.Gln450Ter)
c.1251+2482C>T (n.1251+2482C>T)
c.1156C>T (p.Gln386Ter)
c.973C>T (p.Gln325Ter)
ClinVar
1g.77935962A>CCA340879197NEXNc.1391A>C (p.Gln464Pro)
c.1199A>C (p.Gln400Pro)
c.1090A>C
n.851A>C
n.965A>C
c.1349A>C (p.Gln450Pro)
c.1251+2483A>C (n.1251+2483A>C)
c.1157A>C (p.Gln386Pro)
c.974A>C (p.Gln325Pro)
1g.77935962A>GCA340879196NEXNc.1391A>G (p.Gln464Arg)
c.1199A>G (p.Gln400Arg)
c.1090A>G
n.851A>G
n.965A>G
c.1349A>G (p.Gln450Arg)
c.1251+2483A>G (n.1251+2483A>G)
c.1157A>G (p.Gln386Arg)
c.974A>G (p.Gln325Arg)
1g.77935962A>TCA340879191NEXNc.1391A>T (p.Gln464Leu)
c.1199A>T (p.Gln400Leu)
c.1090A>T
n.851A>T
n.965A>T
c.1349A>T (p.Gln450Leu)
c.1251+2483A>T (n.1251+2483A>T)
c.1157A>T (p.Gln386Leu)
c.974A>T (p.Gln325Leu)
1g.77935963G>ACA418709443NEXNc.1392G>A (p.Gln464=)
c.1200G>A (p.Gln400=)
c.1091G>A
n.852G>A
n.966G>A
c.1350G>A (p.Gln450=)
c.1251+2484G>A (n.1251+2484G>A)
c.1158G>A (p.Gln386=)
c.975G>A (p.Gln325=)
1g.77935963G>CCA340879199NEXNc.1392G>C (p.Gln464His)
c.1200G>C (p.Gln400His)
c.1091G>C
n.852G>C
n.966G>C
c.1350G>C (p.Gln450His)
c.1251+2484G>C (n.1251+2484G>C)
c.1158G>C (p.Gln386His)
c.975G>C (p.Gln325His)
gnomAD v4
1g.77935963G>TCA340879200NEXNc.1392G>T (p.Gln464His)
c.1200G>T (p.Gln400His)
c.1091G>T
n.852G>T
n.966G>T
c.1350G>T (p.Gln450His)
c.1251+2484G>T (n.1251+2484G>T)
c.1158G>T (p.Gln386His)
c.975G>T (p.Gln325His)
1g.77935963_77935964delinsGACA1177628319NEXNc.1392_1393delinsGA (p.Gln464=)
c.1200_1201delinsGA (p.Gln400=)
c.1091_1092delinsGA
n.852_853delinsGA
n.966_967delinsGA
c.1350_1351delinsGA (p.Gln450=)
c.1251+2484_1251+2485delinsGA (n.1251+2484_1251+2485delinsGA)
c.1158_1159delinsGA (p.Gln386=)
c.975_976delinsGA (p.Gln325=)
1g.77935964A>CCA340879202NEXNc.1393A>C (p.Lys465Gln)
c.1201A>C (p.Lys401Gln)
c.1092A>C
n.853A>C
n.967A>C
c.1351A>C (p.Lys451Gln)
c.1251+2485A>C (n.1251+2485A>C)
c.1159A>C (p.Lys387Gln)
c.976A>C (p.Lys326Gln)
1g.77935964A>GCA340879203NEXNc.1393A>G (p.Lys465Glu)
c.1201A>G (p.Lys401Glu)
c.1092A>G
n.853A>G
n.967A>G
c.1351A>G (p.Lys451Glu)
c.1251+2485A>G (n.1251+2485A>G)
c.1159A>G (p.Lys387Glu)
c.976A>G (p.Lys326Glu)
1g.77935964A>TCA340879204NEXNc.1393A>T (p.Lys465Ter)
c.1201A>T (p.Lys401Ter)
c.1092A>T
n.853A>T
n.967A>T
c.1351A>T (p.Lys451Ter)
c.1251+2485A>T (n.1251+2485A>T)
c.1159A>T (p.Lys387Ter)
c.976A>T (p.Lys326Ter)
1g.77935970dupCA2573132568NEXNc.1399dup (p.Ile467AsnfsTer12)
c.1207dup (p.Ile403AsnfsTer12)
c.1098dup
n.973dup
c.1357dup (p.Ile453AsnfsTer12)
c.1251+2491dup (n.1251+2491dup)
c.1165dup (p.Ile389AsnfsTer12)
c.982dup (p.Ile328AsnfsTer12)
ClinVar dbSNP gnomAD v4
1g.77935970delCA524231039NEXNc.1399del (p.Ile467Ter)
c.1207del (p.Ile403Ter)
c.1098del
n.859del
n.973del
c.1357del (p.Ile453Ter)
c.1251+2491del (n.1251+2491del)
c.1165del (p.Ile389Ter)
c.982del (p.Ile328Ter)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77935965A>CCA340879205NEXNc.1394A>C (p.Lys465Thr)
c.1202A>C (p.Lys401Thr)
c.1093A>C
n.854A>C
n.968A>C
c.1352A>C (p.Lys451Thr)
c.1251+2486A>C (n.1251+2486A>C)
c.1160A>C (p.Lys387Thr)
c.977A>C (p.Lys326Thr)
1g.77935965A>GCA340879206NEXNc.1394A>G (p.Lys465Arg)
c.1202A>G (p.Lys401Arg)
c.1093A>G
n.854A>G
n.968A>G
c.1352A>G (p.Lys451Arg)
c.1251+2486A>G (n.1251+2486A>G)
c.1160A>G (p.Lys387Arg)
c.977A>G (p.Lys326Arg)
1g.77935965A>TCA340879208NEXNc.1394A>T (p.Lys465Ile)
c.1202A>T (p.Lys401Ile)
c.1093A>T
n.854A>T
n.968A>T
c.1352A>T (p.Lys451Ile)
c.1251+2486A>T (n.1251+2486A>T)
c.1160A>T (p.Lys387Ile)
c.977A>T (p.Lys326Ile)
1g.77935966A>CCA340879209NEXNc.1395A>C (p.Lys465Asn)
c.1203A>C (p.Lys401Asn)
c.1094A>C
n.855A>C
n.969A>C
c.1353A>C (p.Lys451Asn)
c.1251+2487A>C (n.1251+2487A>C)
c.1161A>C (p.Lys387Asn)
c.978A>C (p.Lys326Asn)
gnomAD v4
1g.77935966A>GCA418709444NEXNc.1395A>G (p.Lys465=)
c.1203A>G (p.Lys401=)
c.1094A>G
n.855A>G
n.969A>G
c.1353A>G (p.Lys451=)
c.1251+2487A>G (n.1251+2487A>G)
c.1161A>G (p.Lys387=)
c.978A>G (p.Lys326=)
1g.77935966A>TCA340879210NEXNc.1395A>T (p.Lys465Asn)
c.1203A>T (p.Lys401Asn)
c.1094A>T
n.855A>T
n.969A>T
c.1353A>T (p.Lys451Asn)
c.1251+2487A>T (n.1251+2487A>T)
c.1161A>T (p.Lys387Asn)
c.978A>T (p.Lys326Asn)
1g.77935967A=CA1177628320NEXNc.1396A= (p.Lys466=)
c.1204A= (p.Lys402=)
c.1095A=
n.856A=
n.970A=
c.1354A= (p.Lys452=)
c.1251+2488A= (n.1251+2488A=)
c.1162A= (p.Lys388=)
c.979A= (p.Lys327=)
1g.77935967A>CCA340879211NEXNc.1396A>C (p.Lys466Gln)
c.1204A>C (p.Lys402Gln)
c.1095A>C
n.856A>C
n.970A>C
c.1354A>C (p.Lys452Gln)
c.1251+2488A>C (n.1251+2488A>C)
c.1162A>C (p.Lys388Gln)
c.979A>C (p.Lys327Gln)
dbSNP
1g.77935967A>GCA340879213NEXNc.1396A>G (p.Lys466Glu)
c.1204A>G (p.Lys402Glu)
c.1095A>G
n.856A>G
n.970A>G
c.1354A>G (p.Lys452Glu)
c.1251+2488A>G (n.1251+2488A>G)
c.1162A>G (p.Lys388Glu)
c.979A>G (p.Lys327Glu)
1g.77935967A>TCA340879214NEXNc.1396A>T (p.Lys466Ter)
c.1204A>T (p.Lys402Ter)
c.1095A>T
n.856A>T
n.970A>T
c.1354A>T (p.Lys452Ter)
c.1251+2488A>T (n.1251+2488A>T)
c.1162A>T (p.Lys388Ter)
c.979A>T (p.Lys327Ter)
1g.77935968A>CCA340879217NEXNc.1397A>C (p.Lys466Thr)
c.1205A>C (p.Lys402Thr)
c.1096A>C
n.857A>C
n.971A>C
c.1355A>C (p.Lys452Thr)
c.1251+2489A>C (n.1251+2489A>C)
c.1163A>C (p.Lys388Thr)
c.980A>C (p.Lys327Thr)
1g.77935968A>GCA340879220NEXNc.1397A>G (p.Lys466Arg)
c.1205A>G (p.Lys402Arg)
c.1096A>G
n.857A>G
n.971A>G
c.1355A>G (p.Lys452Arg)
c.1251+2489A>G (n.1251+2489A>G)
c.1163A>G (p.Lys388Arg)
c.980A>G (p.Lys327Arg)
1g.77935968A>TCA340879218NEXNc.1397A>T (p.Lys466Ile)
c.1205A>T (p.Lys402Ile)
c.1096A>T
n.857A>T
n.971A>T
c.1355A>T (p.Lys452Ile)
c.1251+2489A>T (n.1251+2489A>T)
c.1163A>T (p.Lys388Ile)
c.980A>T (p.Lys327Ile)
1g.77935969A>CCA340879224NEXNc.1398A>C (p.Lys466Asn)
c.1206A>C (p.Lys402Asn)
c.1097A>C
n.858A>C
n.972A>C
c.1356A>C (p.Lys452Asn)
c.1251+2490A>C (n.1251+2490A>C)
c.1164A>C (p.Lys388Asn)
c.981A>C (p.Lys327Asn)
1g.77935969A>GCA418709445NEXNc.1398A>G (p.Lys466=)
c.1206A>G (p.Lys402=)
c.1097A>G
n.858A>G
n.972A>G
c.1356A>G (p.Lys452=)
c.1251+2490A>G (n.1251+2490A>G)
c.1164A>G (p.Lys388=)
c.981A>G (p.Lys327=)
dbSNP
1g.77935969A>TCA340879225NEXNc.1398A>T (p.Lys466Asn)
c.1206A>T (p.Lys402Asn)
c.1097A>T
n.858A>T
n.972A>T
c.1356A>T (p.Lys452Asn)
c.1251+2490A>T (n.1251+2490A>T)
c.1164A>T (p.Lys388Asn)
c.981A>T (p.Lys327Asn)
1g.77935970_77935972delCA2586966785NEXNc.1399_1401del (p.Ile467del)
c.1207_1209del (p.Ile403del)
c.1098_1100del
n.973_975del
c.1357_1359del (p.Ile453del)
c.1251+2491_1251+2493del (n.1251+2491_1251+2493del)
c.1165_1167del (p.Ile389del)
c.982_984del (p.Ile328del)
1g.77935970A>CCA340879230NEXNc.1399A>C (p.Ile467Leu)
c.1207A>C (p.Ile403Leu)
c.1098A>C
n.859A>C
n.973A>C
c.1357A>C (p.Ile453Leu)
c.1251+2491A>C (n.1251+2491A>C)
c.1165A>C (p.Ile389Leu)
c.982A>C (p.Ile328Leu)
1g.77935970A>GCA340879232NEXNc.1399A>G (p.Ile467Val)
c.1207A>G (p.Ile403Val)
c.1098A>G
n.859A>G
n.973A>G
c.1357A>G (p.Ile453Val)
c.1251+2491A>G (n.1251+2491A>G)
c.1165A>G (p.Ile389Val)
c.982A>G (p.Ile328Val)
1g.77935970A>TCA340879234NEXNc.1399A>T (p.Ile467Leu)
c.1207A>T (p.Ile403Leu)
c.1098A>T
n.859A>T
n.973A>T
c.1357A>T (p.Ile453Leu)
c.1251+2491A>T (n.1251+2491A>T)
c.1165A>T (p.Ile389Leu)
c.982A>T (p.Ile328Leu)
1g.77935970_77935973delinsATAGCA1177628321NEXNc.1399_1402delinsATAG (p.Ile467=)
c.1207_1210delinsATAG (p.Ile403=)
c.1098_1101delinsATAG
n.973_976delinsATAG
c.1357_1360delinsATAG (p.Ile453=)
c.1251+2491_1251+2494delinsATAG (n.1251+2491_1251+2494delinsATAG)
c.1165_1168delinsATAG (p.Ile389=)
c.982_985delinsATAG (p.Ile328=)
1g.77935971delCA2580063265NEXNc.1400del (p.Ile467LysfsTer?)
c.1208del (p.Ile403LysfsTer?)
c.1099del
n.974del
c.1358del (p.Ile453LysfsTer?)
c.1251+2492del (n.1251+2492del)
c.1166del (p.Ile389LysfsTer?)
c.983del (p.Ile328LysfsTer?)
ClinVar gnomAD v4
1g.77935971T>ACA340879235NEXNc.1400T>A (p.Ile467Lys)
c.1208T>A (p.Ile403Lys)
c.1099T>A
n.974T>A
c.1358T>A (p.Ile453Lys)
c.1251+2492T>A (n.1251+2492T>A)
c.1166T>A (p.Ile389Lys)
c.983T>A (p.Ile328Lys)
1g.77935971T>CCA076791NEXNc.1400T>C (p.Ile467Thr)
c.1208T>C (p.Ile403Thr)
c.1099T>C
n.974T>C
c.1358T>C (p.Ile453Thr)
c.1251+2492T>C (n.1251+2492T>C)
c.1166T>C (p.Ile389Thr)
c.983T>C (p.Ile328Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935971T>GCA340879241NEXNc.1400T>G (p.Ile467Arg)
c.1208T>G (p.Ile403Arg)
c.1099T>G
n.974T>G
c.1358T>G (p.Ile453Arg)
c.1251+2492T>G (n.1251+2492T>G)
c.1166T>G (p.Ile389Arg)
c.983T>G (p.Ile328Arg)
1g.77935971T=CA1143713865NEXNc.1400T= (p.Ile467=)
c.1208T= (p.Ile403=)
c.1099T=
n.974T=
c.1358T= (p.Ile453=)
c.1251+2492T= (n.1251+2492T=)
c.1166T= (p.Ile389=)
c.983T= (p.Ile328=)
1g.77935971_77935973delCA1177628323NEXNc.1400_1402del (p.Ile467_Glu468delinsLys)
c.1208_1210del (p.Ile403_Glu404delinsLys)
c.1099_1101del
n.974_976del
c.1358_1360del (p.Ile453_Glu454delinsLys)
c.1251+2492_1251+2494del (n.1251+2492_1251+2494del)
c.1166_1168del (p.Ile389_Glu390delinsLys)
c.983_985del (p.Ile328_Glu329delinsLys)
dbSNP
1g.77935971_77935974delinsTAGACA1177628322NEXNc.1400_1403delinsTAGA (p.Ile467=)
c.1208_1211delinsTAGA (p.Ile403=)
c.1099_1102delinsTAGA
n.974_977delinsTAGA
c.1358_1361delinsTAGA (p.Ile453=)
c.1251+2492_1251+2495delinsTAGA (n.1251+2492_1251+2495delinsTAGA)
c.1166_1169delinsTAGA (p.Ile389=)
c.983_986delinsTAGA (p.Ile328=)
1g.77935972A=CA1177628325NEXNc.1401A= (p.Ile467=)
c.1209A= (p.Ile403=)
c.1100A=
n.975A=
c.1359A= (p.Ile453=)
c.1251+2493A= (n.1251+2493A=)
c.1167A= (p.Ile389=)
c.984A= (p.Ile328=)
1g.77935972A>CCA418709446NEXNc.1401A>C (p.Ile467=)
c.1209A>C (p.Ile403=)
c.1100A>C
n.975A>C
c.1359A>C (p.Ile453=)
c.1251+2493A>C (n.1251+2493A>C)
c.1167A>C (p.Ile389=)
c.984A>C (p.Ile328=)
1g.77935972A>GCA340879243NEXNc.1401A>G (p.Ile467Met)
c.1209A>G (p.Ile403Met)
c.1100A>G
n.975A>G
c.1359A>G (p.Ile453Met)
c.1251+2493A>G (n.1251+2493A>G)
c.1167A>G (p.Ile389Met)
c.984A>G (p.Ile328Met)
1g.77935972A>TCA418709447NEXNc.1401A>T (p.Ile467=)
c.1209A>T (p.Ile403=)
c.1100A>T
n.975A>T
c.1359A>T (p.Ile453=)
c.1251+2493A>T (n.1251+2493A>T)
c.1167A>T (p.Ile389=)
c.984A>T (p.Ile328=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77935972_77935980delinsAGAAGAAGACA1144228874NEXNc.1401_1409delinsAGAAGAAGA (p.Ile467=)
c.1209_1217delinsAGAAGAAGA (p.Ile403=)
c.1100_1108delinsAGAAGAAGA
n.975_983delinsAGAAGAAGA
c.1359_1367delinsAGAAGAAGA (p.Ile453=)
c.1251+2493_1251+2501delinsAGAAGAAGA (n.1251+2493_1251+2501delinsAGAAGAAGA)
c.1167_1175delinsAGAAGAAGA (p.Ile389=)
c.984_992delinsAGAAGAAGA (p.Ile328=)
1g.77935978_77935980dupCA1177628324NEXNc.1407_1409dup (p.Glu470_Arg471insGlu)
c.1215_1217dup (p.Glu406_Arg407insGlu)
c.1106_1108dup
n.981_983dup
c.1365_1367dup (p.Glu456_Arg457insGlu)
c.1251+2499_1251+2501dup (n.1251+2499_1251+2501dup)
c.1173_1175dup (p.Glu392_Arg393insGlu)
c.990_992dup (p.Glu331_Arg332insGlu)
dbSNP
1g.77935978_77935980delCA142113NEXNc.1407_1409del (p.Glu470del)
c.1215_1217del (p.Glu406del)
c.1106_1108del
n.981_983del
c.1365_1367del (p.Glu456del)
c.1251+2499_1251+2501del (n.1251+2499_1251+2501del)
c.1173_1175del (p.Glu392del)
c.990_992del (p.Glu331del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935973G>ACA340879248NEXNc.1402G>A (p.Glu468Lys)
c.1210G>A (p.Glu404Lys)
c.1101G>A
n.976G>A
c.1360G>A (p.Glu454Lys)
c.1251+2494G>A (n.1251+2494G>A)
c.1168G>A (p.Glu390Lys)
c.985G>A (p.Glu329Lys)
gnomAD v4
1g.77935973G>CCA340879247NEXNc.1402G>C (p.Glu468Gln)
c.1210G>C (p.Glu404Gln)
c.1101G>C
n.976G>C
c.1360G>C (p.Glu454Gln)
c.1251+2494G>C (n.1251+2494G>C)
c.1168G>C (p.Glu390Gln)
c.985G>C (p.Glu329Gln)
gnomAD v4
1g.77935973G>TCA340879245NEXNc.1402G>T (p.Glu468Ter)
c.1210G>T (p.Glu404Ter)
c.1101G>T
n.976G>T
c.1360G>T (p.Glu454Ter)
c.1251+2494G>T (n.1251+2494G>T)
c.1168G>T (p.Glu390Ter)
c.985G>T (p.Glu329Ter)
1g.77935974A=CA1177628326NEXNc.1403A= (p.Glu468=)
c.1211A= (p.Glu404=)
c.1102A=
n.977A=
c.1361A= (p.Glu454=)
c.1251+2495A= (n.1251+2495A=)
c.1169A= (p.Glu390=)
c.986A= (p.Glu329=)
1g.77935974A>CCA340879249NEXNc.1403A>C (p.Glu468Ala)
c.1211A>C (p.Glu404Ala)
c.1102A>C
n.977A>C
c.1361A>C (p.Glu454Ala)
c.1251+2495A>C (n.1251+2495A>C)
c.1169A>C (p.Glu390Ala)
c.986A>C (p.Glu329Ala)
1g.77935974A>GCA340879250NEXNc.1403A>G (p.Glu468Gly)
c.1211A>G (p.Glu404Gly)
c.1102A>G
n.977A>G
c.1361A>G (p.Glu454Gly)
c.1251+2495A>G (n.1251+2495A>G)
c.1169A>G (p.Glu390Gly)
c.986A>G (p.Glu329Gly)
1g.77935974A>TCA340879251NEXNc.1403A>T (p.Glu468Val)
c.1211A>T (p.Glu404Val)
c.1102A>T
n.977A>T
c.1361A>T (p.Glu454Val)
c.1251+2495A>T (n.1251+2495A>T)
c.1169A>T (p.Glu390Val)
c.986A>T (p.Glu329Val)
dbSNP gnomAD v3 gnomAD v4
1g.77935975A=CA1177628327NEXNc.1404A= (p.Glu468=)
c.1212A= (p.Glu404=)
c.1103A=
n.978A=
c.1362A= (p.Glu454=)
c.1251+2496A= (n.1251+2496A=)
c.1170A= (p.Glu390=)
c.987A= (p.Glu329=)
1g.77935975A>CCA340879252NEXNc.1404A>C (p.Glu468Asp)
c.1212A>C (p.Glu404Asp)
c.1103A>C
n.978A>C
c.1362A>C (p.Glu454Asp)
c.1251+2496A>C (n.1251+2496A>C)
c.1170A>C (p.Glu390Asp)
c.987A>C (p.Glu329Asp)
dbSNP gnomAD v2 gnomAD v4
1g.77935975A>GCA418709449NEXNc.1404A>G (p.Glu468=)
c.1212A>G (p.Glu404=)
c.1103A>G
n.978A>G
c.1362A>G (p.Glu454=)
c.1251+2496A>G (n.1251+2496A>G)
c.1170A>G (p.Glu390=)
c.987A>G (p.Glu329=)
gnomAD v4
1g.77935975A>TCA340879253NEXNc.1404A>T (p.Glu468Asp)
c.1212A>T (p.Glu404Asp)
c.1103A>T
n.978A>T
c.1362A>T (p.Glu454Asp)
c.1251+2496A>T (n.1251+2496A>T)
c.1170A>T (p.Glu390Asp)
c.987A>T (p.Glu329Asp)
1g.77935976G>ACA340879254NEXNc.1405G>A (p.Glu469Lys)
c.1213G>A (p.Glu405Lys)
c.1104G>A
n.979G>A
c.1363G>A (p.Glu455Lys)
c.1251+2497G>A (n.1251+2497G>A)
c.1171G>A (p.Glu391Lys)
c.988G>A (p.Glu330Lys)
gnomAD v4
1g.77935976G>CCA340879255NEXNc.1405G>C (p.Glu469Gln)
c.1213G>C (p.Glu405Gln)
c.1104G>C
n.979G>C
c.1363G>C (p.Glu455Gln)
c.1251+2497G>C (n.1251+2497G>C)
c.1171G>C (p.Glu391Gln)
c.988G>C (p.Glu330Gln)
1g.77935976G>TCA340879256NEXNc.1405G>T (p.Glu469Ter)
c.1213G>T (p.Glu405Ter)
c.1104G>T
n.979G>T
c.1363G>T (p.Glu455Ter)
c.1251+2497G>T (n.1251+2497G>T)
c.1171G>T (p.Glu391Ter)
c.988G>T (p.Glu330Ter)
1g.77935977A>CCA340879258NEXNc.1406A>C (p.Glu469Ala)
c.1214A>C (p.Glu405Ala)
c.1105A>C
n.980A>C
c.1364A>C (p.Glu455Ala)
c.1251+2498A>C (n.1251+2498A>C)
c.1172A>C (p.Glu391Ala)
c.989A>C (p.Glu330Ala)
1g.77935977A>GCA340879261NEXNc.1406A>G (p.Glu469Gly)
c.1214A>G (p.Glu405Gly)
c.1105A>G
n.980A>G
c.1364A>G (p.Glu455Gly)
c.1251+2498A>G (n.1251+2498A>G)
c.1172A>G (p.Glu391Gly)
c.989A>G (p.Glu330Gly)
1g.77935977A>TCA340879262NEXNc.1406A>T (p.Glu469Val)
c.1214A>T (p.Glu405Val)
c.1105A>T
n.980A>T
c.1364A>T (p.Glu455Val)
c.1251+2498A>T (n.1251+2498A>T)
c.1172A>T (p.Glu391Val)
c.989A>T (p.Glu330Val)
1g.77935978A>CCA340879263NEXNc.1407A>C (p.Glu469Asp)
c.1215A>C (p.Glu405Asp)
c.1106A>C
n.981A>C
c.1365A>C (p.Glu455Asp)
c.1251+2499A>C (n.1251+2499A>C)
c.1173A>C (p.Glu391Asp)
c.990A>C (p.Glu330Asp)
ClinVar
1g.77935978A>GCA418709452NEXNc.1407A>G (p.Glu469=)
c.1215A>G (p.Glu405=)
c.1106A>G
n.981A>G
c.1365A>G (p.Glu455=)
c.1251+2499A>G (n.1251+2499A>G)
c.1173A>G (p.Glu391=)
c.990A>G (p.Glu330=)
gnomAD v4
1g.77935978A>TCA340879264NEXNc.1407A>T (p.Glu469Asp)
c.1215A>T (p.Glu405Asp)
c.1106A>T
n.981A>T
c.1365A>T (p.Glu455Asp)
c.1251+2499A>T (n.1251+2499A>T)
c.1173A>T (p.Glu391Asp)
c.990A>T (p.Glu330Asp)
1g.77935978delinsGCCA2580063267NEXNc.1407delinsGC (p.Glu470ArgfsTer9)
c.1215delinsGC (p.Glu406ArgfsTer9)
c.1106delinsGC
n.981delinsGC
c.1365delinsGC (p.Glu456ArgfsTer9)
c.1251+2499delinsGC (n.1251+2499delinsGC)
c.1173delinsGC (p.Glu392ArgfsTer9)
c.990delinsGC (p.Glu331ArgfsTer9)
ClinVar
1g.77935979G>ACA340879269NEXNc.1408G>A (p.Glu470Lys)
c.1216G>A (p.Glu406Lys)
c.1107G>A
n.982G>A
c.1366G>A (p.Glu456Lys)
c.1251+2500G>A (n.1251+2500G>A)
c.1174G>A (p.Glu392Lys)
c.991G>A (p.Glu331Lys)
dbSNP gnomAD v4
1g.77935979G>CCA181124NEXNc.1408G>C (p.Glu470Gln)
c.1216G>C (p.Glu406Gln)
c.1107G>C
n.982G>C
c.1366G>C (p.Glu456Gln)
c.1251+2500G>C (n.1251+2500G>C)
c.1174G>C (p.Glu392Gln)
c.991G>C (p.Glu331Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935979G=CA1140567794NEXNc.1408G= (p.Glu470=)
c.1216G= (p.Glu406=)
c.1107G=
n.982G=
c.1366G= (p.Glu456=)
c.1251+2500G= (n.1251+2500G=)
c.1174G= (p.Glu392=)
c.991G= (p.Glu331=)
1g.77935979G>TCA340879267NEXNc.1408G>T (p.Glu470Ter)
c.1216G>T (p.Glu406Ter)
c.1107G>T
n.982G>T
c.1366G>T (p.Glu456Ter)
c.1251+2500G>T (n.1251+2500G>T)
c.1174G>T (p.Glu392Ter)
c.991G>T (p.Glu331Ter)
gnomAD v4
1g.77935983_77935986delCA2542462886NEXNc.1412_1415del (p.Arg471GlnfsTer?)
c.1220_1223del (p.Arg407GlnfsTer?)
c.1111_1114del
n.986_989del
c.1370_1373del (p.Arg457GlnfsTer?)
c.1251+2504_1251+2507del (n.1251+2504_1251+2507del)
c.1178_1181del (p.Arg393GlnfsTer?)
c.995_998del (p.Arg332GlnfsTer?)
gnomAD v4
1g.77935980A=CA1177628328NEXNc.1409A= (p.Glu470=)
c.1217A= (p.Glu406=)
c.1108A=
n.983A=
c.1367A= (p.Glu456=)
c.1251+2501A= (n.1251+2501A=)
c.1175A= (p.Glu392=)
c.992A= (p.Glu331=)
1g.77935980A>CCA918869NEXNc.1409A>C (p.Glu470Ala)
c.1217A>C (p.Glu406Ala)
c.1108A>C
n.983A>C
c.1367A>C (p.Glu456Ala)
c.1251+2501A>C (n.1251+2501A>C)
c.1175A>C (p.Glu392Ala)
c.992A>C (p.Glu331Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935980A>GCA340879270NEXNc.1409A>G (p.Glu470Gly)
c.1217A>G (p.Glu406Gly)
c.1108A>G
n.983A>G
c.1367A>G (p.Glu456Gly)
c.1251+2501A>G (n.1251+2501A>G)
c.1175A>G (p.Glu392Gly)
c.992A>G (p.Glu331Gly)
1g.77935980A>TCA340879271NEXNc.1409A>T (p.Glu470Val)
c.1217A>T (p.Glu406Val)
c.1108A>T
n.983A>T
c.1367A>T (p.Glu456Val)
c.1251+2501A>T (n.1251+2501A>T)
c.1175A>T (p.Glu392Val)
c.992A>T (p.Glu331Val)
1g.77935981G>ACA418709457NEXNc.1410G>A (p.Glu470=)
c.1218G>A (p.Glu406=)
c.1109G>A
n.984G>A
c.1368G>A (p.Glu456=)
c.1251+2502G>A (n.1251+2502G>A)
c.1176G>A (p.Glu392=)
c.993G>A (p.Glu331=)
dbSNP
1g.77935981G>CCA340879272NEXNc.1410G>C (p.Glu470Asp)
c.1218G>C (p.Glu406Asp)
c.1109G>C
n.984G>C
c.1368G>C (p.Glu456Asp)
c.1251+2502G>C (n.1251+2502G>C)
c.1176G>C (p.Glu392Asp)
c.993G>C (p.Glu331Asp)
1g.77935981G>TCA340879273NEXNc.1410G>T (p.Glu470Asp)
c.1218G>T (p.Glu406Asp)
c.1109G>T
n.984G>T
c.1368G>T (p.Glu456Asp)
c.1251+2502G>T (n.1251+2502G>T)
c.1176G>T (p.Glu392Asp)
c.993G>T (p.Glu331Asp)
1g.77935982C>ACA418709460NEXNc.1411C>A (p.Arg471=)
c.1219C>A (p.Arg407=)
c.1110C>A
n.985C>A
c.1369C>A (p.Arg457=)
c.1251+2503C>A (n.1251+2503C>A)
c.1177C>A (p.Arg393=)
c.994C>A (p.Arg332=)
ClinVar gnomAD v4
1g.77935982C=CA1177628329NEXNc.1411C= (p.Arg471=)
c.1219C= (p.Arg407=)
c.1110C=
n.985C=
c.1369C= (p.Arg457=)
c.1251+2503C= (n.1251+2503C=)
c.1177C= (p.Arg393=)
c.994C= (p.Arg332=)
1g.77935982C>GCA340879274NEXNc.1411C>G (p.Arg471Gly)
c.1219C>G (p.Arg407Gly)
c.1110C>G
n.985C>G
c.1369C>G (p.Arg457Gly)
c.1251+2503C>G (n.1251+2503C>G)
c.1177C>G (p.Arg393Gly)
c.994C>G (p.Arg332Gly)
1g.77935982C>TCA918870NEXNc.1411C>T (p.Arg471Ter)
c.1219C>T (p.Arg407Ter)
c.1110C>T
n.985C>T
c.1369C>T (p.Arg457Ter)
c.1251+2503C>T (n.1251+2503C>T)
c.1177C>T (p.Arg393Ter)
c.994C>T (p.Arg332Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935983G>ACA918871NEXNc.1412G>A (p.Arg471Gln)
c.1220G>A (p.Arg407Gln)
c.1111G>A
n.986G>A
c.1370G>A (p.Arg457Gln)
c.1251+2504G>A (n.1251+2504G>A)
c.1178G>A (p.Arg393Gln)
c.995G>A (p.Arg332Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935983G>CCA340879277NEXNc.1412G>C (p.Arg471Pro)
c.1220G>C (p.Arg407Pro)
c.1111G>C
n.986G>C
c.1370G>C (p.Arg457Pro)
c.1251+2504G>C (n.1251+2504G>C)
c.1178G>C (p.Arg393Pro)
c.995G>C (p.Arg332Pro)
1g.77935983G=CA1148411205NEXNc.1412G= (p.Arg471=)
c.1220G= (p.Arg407=)
c.1111G=
n.986G=
c.1370G= (p.Arg457=)
c.1251+2504G= (n.1251+2504G=)
c.1178G= (p.Arg393=)
c.995G= (p.Arg332=)
1g.77935983G>TCA918872NEXNc.1412G>T (p.Arg471Leu)
c.1220G>T (p.Arg407Leu)
c.1111G>T
n.986G>T
c.1370G>T (p.Arg457Leu)
c.1251+2504G>T (n.1251+2504G>T)
c.1178G>T (p.Arg393Leu)
c.995G>T (p.Arg332Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935984A=CA1177628330NEXNc.1413A= (p.Arg471=)
c.1221A= (p.Arg407=)
c.1112A=
n.987A=
c.1371A= (p.Arg457=)
c.1251+2505A= (n.1251+2505A=)
c.1179A= (p.Arg393=)
c.996A= (p.Arg332=)
1g.77935984A>CCA418709463NEXNc.1413A>C (p.Arg471=)
c.1221A>C (p.Arg407=)
c.1112A>C
n.987A>C
c.1371A>C (p.Arg457=)
c.1251+2505A>C (n.1251+2505A>C)
c.1179A>C (p.Arg393=)
c.996A>C (p.Arg332=)
1g.77935984A>GCA918873NEXNc.1413A>G (p.Arg471=)
c.1221A>G (p.Arg407=)
c.1112A>G
n.987A>G
c.1371A>G (p.Arg457=)
c.1251+2505A>G (n.1251+2505A>G)
c.1179A>G (p.Arg393=)
c.996A>G (p.Arg332=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935984A>TCA418709464NEXNc.1413A>T (p.Arg471=)
c.1221A>T (p.Arg407=)
c.1112A>T
n.987A>T
c.1371A>T (p.Arg457=)
c.1251+2505A>T (n.1251+2505A>T)
c.1179A>T (p.Arg393=)
c.996A>T (p.Arg332=)
1g.77935985G>ACA24686664NEXNc.1414G>A (p.Ala472Thr)
c.1222G>A (p.Ala408Thr)
c.1113G>A
n.988G>A
c.1372G>A (p.Ala458Thr)
c.1251+2506G>A (n.1251+2506G>A)
c.1180G>A (p.Ala394Thr)
c.997G>A (p.Ala333Thr)
dbSNP
1g.77935985G>CCA340879287NEXNc.1414G>C (p.Ala472Pro)
c.1222G>C (p.Ala408Pro)
c.1113G>C
n.988G>C
c.1372G>C (p.Ala458Pro)
c.1251+2506G>C (n.1251+2506G>C)
c.1180G>C (p.Ala394Pro)
c.997G>C (p.Ala333Pro)
1g.77935985G=CA1143959920NEXNc.1414G= (p.Ala472=)
c.1222G= (p.Ala408=)
c.1113G=
n.988G=
c.1372G= (p.Ala458=)
c.1251+2506G= (n.1251+2506G=)
c.1180G= (p.Ala394=)
c.997G= (p.Ala333=)
1g.77935985G>TCA340879281NEXNc.1414G>T (p.Ala472Ser)
c.1222G>T (p.Ala408Ser)
c.1113G>T
n.988G>T
c.1372G>T (p.Ala458Ser)
c.1251+2506G>T (n.1251+2506G>T)
c.1180G>T (p.Ala394Ser)
c.997G>T (p.Ala333Ser)
1g.77935986C>ACA340879290NEXNc.1415C>A (p.Ala472Glu)
c.1223C>A (p.Ala408Glu)
c.1114C>A
n.989C>A
c.1373C>A (p.Ala458Glu)
c.1251+2507C>A (n.1251+2507C>A)
c.1181C>A (p.Ala394Glu)
c.998C>A (p.Ala333Glu)
1g.77935986C=CA1145181105NEXNc.1415C= (p.Ala472=)
c.1223C= (p.Ala408=)
c.1114C=
n.989C=
c.1373C= (p.Ala458=)
c.1251+2507C= (n.1251+2507C=)
c.1181C= (p.Ala394=)
c.998C= (p.Ala333=)
1g.77935986C>GCA918874NEXNc.1415C>G (p.Ala472Gly)
c.1223C>G (p.Ala408Gly)
c.1114C>G
n.989C>G
c.1373C>G (p.Ala458Gly)
c.1251+2507C>G (n.1251+2507C>G)
c.1181C>G (p.Ala394Gly)
c.998C>G (p.Ala333Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935986C>TCA340879291NEXNc.1415C>T (p.Ala472Val)
c.1223C>T (p.Ala408Val)
c.1114C>T
n.989C>T
c.1373C>T (p.Ala458Val)
c.1251+2507C>T (n.1251+2507C>T)
c.1181C>T (p.Ala394Val)
c.998C>T (p.Ala333Val)
gnomAD v4
1g.77935986_77935989delinsCAAGCA1177628331NEXNc.1415_1418delinsCAAG (p.Ala472=)
c.1223_1226delinsCAAG (p.Ala408=)
c.1114_1117delinsCAAG
n.989_992delinsCAAG
c.1373_1376delinsCAAG (p.Ala458=)
c.1251+2507_1251+2510delinsCAAG (n.1251+2507_1251+2510delinsCAAG)
c.1181_1184delinsCAAG (p.Ala394=)
c.998_1001delinsCAAG (p.Ala333=)
1g.77935987A>CCA418709471NEXNc.1416A>C (p.Ala472=)
c.1224A>C (p.Ala408=)
c.1115A>C
n.990A>C
c.1374A>C (p.Ala458=)
c.1251+2508A>C (n.1251+2508A>C)
c.1182A>C (p.Ala394=)
c.999A>C (p.Ala333=)
1g.77935987A>GCA418709468NEXNc.1416A>G (p.Ala472=)
c.1224A>G (p.Ala408=)
c.1115A>G
n.990A>G
c.1374A>G (p.Ala458=)
c.1251+2508A>G (n.1251+2508A>G)
c.1182A>G (p.Ala394=)
c.999A>G (p.Ala333=)
1g.77935987A>TCA418709469NEXNc.1416A>T (p.Ala472=)
c.1224A>T (p.Ala408=)
c.1115A>T
n.990A>T
c.1374A>T (p.Ala458=)
c.1251+2508A>T (n.1251+2508A>T)
c.1182A>T (p.Ala394=)
c.999A>T (p.Ala333=)
1g.77935990_77935992delCA335456NEXNc.1419_1421del (p.Arg474del)
c.1227_1229del (p.Arg410del)
c.1118_1120del
n.993_995del
c.1377_1379del (p.Arg460del)
c.1251+2511_1251+2513del (n.1251+2511_1251+2513del)
c.1185_1187del (p.Arg396del)
c.1002_1004del (p.Arg335del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935988A=CA1177628332NEXNc.1417A= (p.Arg473=)
c.1225A= (p.Arg409=)
c.1116A=
n.991A=
c.1375A= (p.Arg459=)
c.1251+2509A= (n.1251+2509A=)
c.1183A= (p.Arg395=)
c.1000A= (p.Arg334=)
1g.77935988A>CCA418709472NEXNc.1417A>C (p.Arg473=)
c.1225A>C (p.Arg409=)
c.1116A>C
n.991A>C
c.1375A>C (p.Arg459=)
c.1251+2509A>C (n.1251+2509A>C)
c.1183A>C (p.Arg395=)
c.1000A>C (p.Arg334=)
1g.77935988A>GCA340879297NEXNc.1417A>G (p.Arg473Gly)
c.1225A>G (p.Arg409Gly)
c.1116A>G
n.991A>G
c.1375A>G (p.Arg459Gly)
c.1251+2509A>G (n.1251+2509A>G)
c.1183A>G (p.Arg395Gly)
c.1000A>G (p.Arg334Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935988A>TCA340879298NEXNc.1417A>T (p.Arg473Ter)
c.1225A>T (p.Arg409Ter)
c.1116A>T
n.991A>T
c.1375A>T (p.Arg459Ter)
c.1251+2509A>T (n.1251+2509A>T)
c.1183A>T (p.Arg395Ter)
c.1000A>T (p.Arg334Ter)
1g.77935989G>ACA340879301NEXNc.1418G>A (p.Arg473Lys)
c.1226G>A (p.Arg409Lys)
c.1117G>A
n.992G>A
c.1376G>A (p.Arg459Lys)
c.1251+2510G>A (n.1251+2510G>A)
c.1184G>A (p.Arg395Lys)
c.1001G>A (p.Arg334Lys)
1g.77935989G>CCA340879302NEXNc.1418G>C (p.Arg473Thr)
c.1226G>C (p.Arg409Thr)
c.1117G>C
n.992G>C
c.1376G>C (p.Arg459Thr)
c.1251+2510G>C (n.1251+2510G>C)
c.1184G>C (p.Arg395Thr)
c.1001G>C (p.Arg334Thr)
1g.77935989G>TCA340879305NEXNc.1418G>T (p.Arg473Ile)
c.1226G>T (p.Arg409Ile)
c.1117G>T
n.992G>T
c.1376G>T (p.Arg459Ile)
c.1251+2510G>T (n.1251+2510G>T)
c.1184G>T (p.Arg395Ile)
c.1001G>T (p.Arg334Ile)
1g.77935990A=CA1141771453NEXNc.1419A= (p.Arg473=)
c.1227A= (p.Arg409=)
c.1118A=
n.993A=
c.1377A= (p.Arg459=)
c.1251+2511A= (n.1251+2511A=)
c.1185A= (p.Arg395=)
c.1002A= (p.Arg334=)
1g.77935990A>CCA340879306NEXNc.1419A>C (p.Arg473Ser)
c.1227A>C (p.Arg409Ser)
c.1118A>C
n.993A>C
c.1377A>C (p.Arg459Ser)
c.1251+2511A>C (n.1251+2511A>C)
c.1185A>C (p.Arg395Ser)
c.1002A>C (p.Arg334Ser)
1g.77935990A>GCA918875NEXNc.1419A>G (p.Arg473=)
c.1227A>G (p.Arg409=)
c.1118A>G
n.993A>G
c.1377A>G (p.Arg459=)
c.1251+2511A>G (n.1251+2511A>G)
c.1185A>G (p.Arg395=)
c.1002A>G (p.Arg334=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935990A>TCA340879309NEXNc.1419A>T (p.Arg473Ser)
c.1227A>T (p.Arg409Ser)
c.1118A>T
n.993A>T
c.1377A>T (p.Arg459Ser)
c.1251+2511A>T (n.1251+2511A>T)
c.1185A>T (p.Arg395Ser)
c.1002A>T (p.Arg334Ser)
1g.77935991A>CCA418709475NEXNc.1420A>C (p.Arg474=)
c.1228A>C (p.Arg410=)
c.1119A>C
n.994A>C
c.1378A>C (p.Arg460=)
c.1251+2512A>C (n.1251+2512A>C)
c.1186A>C (p.Arg396=)
c.1003A>C (p.Arg335=)
1g.77935991A>GCA340879310NEXNc.1420A>G (p.Arg474Gly)
c.1228A>G (p.Arg410Gly)
c.1119A>G
n.994A>G
c.1378A>G (p.Arg460Gly)
c.1251+2512A>G (n.1251+2512A>G)
c.1186A>G (p.Arg396Gly)
c.1003A>G (p.Arg335Gly)
1g.77935991A>TCA340879311NEXNc.1420A>T (p.Arg474Trp)
c.1228A>T (p.Arg410Trp)
c.1119A>T
n.994A>T
c.1378A>T (p.Arg460Trp)
c.1251+2512A>T (n.1251+2512A>T)
c.1186A>T (p.Arg396Trp)
c.1003A>T (p.Arg335Trp)
1g.77935993_77935995delCA2646274716NEXNc.1422_1424del (p.Arg475del)
c.1230_1232del (p.Arg411del)
c.1121_1123del
n.996_998del
c.1380_1382del (p.Arg461del)
c.1251+2514_1251+2516del (n.1251+2514_1251+2516del)
c.1188_1190del (p.Arg397del)
c.1005_1007del (p.Arg336del)
gnomAD v4
1g.77935992G>ACA340879313NEXNc.1421G>A (p.Arg474Lys)
c.1229G>A (p.Arg410Lys)
c.1120G>A
n.995G>A
c.1379G>A (p.Arg460Lys)
c.1251+2513G>A (n.1251+2513G>A)
c.1187G>A (p.Arg396Lys)
c.1004G>A (p.Arg335Lys)
dbSNP gnomAD v4
1g.77935992G>CCA340879314NEXNc.1421G>C (p.Arg474Thr)
c.1229G>C (p.Arg410Thr)
c.1120G>C
n.995G>C
c.1379G>C (p.Arg460Thr)
c.1251+2513G>C (n.1251+2513G>C)
c.1187G>C (p.Arg396Thr)
c.1004G>C (p.Arg335Thr)
1g.77935992G=CA1177628333NEXNc.1421G= (p.Arg474=)
c.1229G= (p.Arg410=)
c.1120G=
n.995G=
c.1379G= (p.Arg460=)
c.1251+2513G= (n.1251+2513G=)
c.1187G= (p.Arg396=)
c.1004G= (p.Arg335=)
1g.77935992G>TCA340879315NEXNc.1421G>T (p.Arg474Met)
c.1229G>T (p.Arg410Met)
c.1120G>T
n.995G>T
c.1379G>T (p.Arg460Met)
c.1251+2513G>T (n.1251+2513G>T)
c.1187G>T (p.Arg396Met)
c.1004G>T (p.Arg335Met)
1g.77935993G>ACA918876NEXNc.1422G>A (p.Arg474=)
c.1230G>A (p.Arg410=)
c.1121G>A
n.996G>A
c.1380G>A (p.Arg460=)
c.1251+2514G>A (n.1251+2514G>A)
c.1188G>A (p.Arg396=)
c.1005G>A (p.Arg335=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935993G>CCA340879318NEXNc.1422G>C (p.Arg474Ser)
c.1230G>C (p.Arg410Ser)
c.1121G>C
n.996G>C
c.1380G>C (p.Arg460Ser)
c.1251+2514G>C (n.1251+2514G>C)
c.1188G>C (p.Arg396Ser)
c.1005G>C (p.Arg335Ser)
ClinVar dbSNP
1g.77935993G=CA1177628334NEXNc.1422G= (p.Arg474=)
c.1230G= (p.Arg410=)
c.1121G=
n.996G=
c.1380G= (p.Arg460=)
c.1251+2514G= (n.1251+2514G=)
c.1188G= (p.Arg396=)
c.1005G= (p.Arg335=)
1g.77935993G>TCA340879319NEXNc.1422G>T (p.Arg474Ser)
c.1230G>T (p.Arg410Ser)
c.1121G>T
n.996G>T
c.1380G>T (p.Arg460Ser)
c.1251+2514G>T (n.1251+2514G>T)
c.1188G>T (p.Arg396Ser)
c.1005G>T (p.Arg335Ser)
1g.77935994A>CCA418709479NEXNc.1423A>C (p.Arg475=)
c.1231A>C (p.Arg411=)
c.1122A>C
n.997A>C
c.1381A>C (p.Arg461=)
c.1251+2515A>C (n.1251+2515A>C)
c.1189A>C (p.Arg397=)
c.1006A>C (p.Arg336=)
1g.77935994A>GCA340879320NEXNc.1423A>G (p.Arg475Gly)
c.1231A>G (p.Arg411Gly)
c.1122A>G
n.997A>G
c.1381A>G (p.Arg461Gly)
c.1251+2515A>G (n.1251+2515A>G)
c.1189A>G (p.Arg397Gly)
c.1006A>G (p.Arg336Gly)
1g.77935994A>TCA340879321NEXNc.1423A>T (p.Arg475Ter)
c.1231A>T (p.Arg411Ter)
c.1122A>T
n.997A>T
c.1381A>T (p.Arg461Ter)
c.1251+2515A>T (n.1251+2515A>T)
c.1189A>T (p.Arg397Ter)
c.1006A>T (p.Arg336Ter)
1g.77935995G>ACA340879323NEXNc.1424G>A (p.Arg475Lys)
c.1232G>A (p.Arg411Lys)
c.1123G>A
n.998G>A
c.1382G>A (p.Arg461Lys)
c.1251+2516G>A (n.1251+2516G>A)
c.1190G>A (p.Arg397Lys)
c.1007G>A (p.Arg336Lys)
gnomAD v4
1g.77935995G>CCA340879325NEXNc.1424G>C (p.Arg475Thr)
c.1232G>C (p.Arg411Thr)
c.1123G>C
n.998G>C
c.1382G>C (p.Arg461Thr)
c.1251+2516G>C (n.1251+2516G>C)
c.1190G>C (p.Arg397Thr)
c.1007G>C (p.Arg336Thr)
gnomAD v4
1g.77935995G>TCA340879328NEXNc.1424G>T (p.Arg475Ile)
c.1232G>T (p.Arg411Ile)
c.1123G>T
n.998G>T
c.1382G>T (p.Arg461Ile)
c.1251+2516G>T (n.1251+2516G>T)
c.1190G>T (p.Arg397Ile)
c.1007G>T (p.Arg336Ile)
1g.77935996A=CA1177628335NEXNc.1425A= (p.Arg475=)
c.1233A= (p.Arg411=)
c.1124A=
n.999A=
c.1383A= (p.Arg461=)
c.1251+2517A= (n.1251+2517A=)
c.1191A= (p.Arg397=)
c.1008A= (p.Arg336=)
1g.77935996A>CCA340879330NEXNc.1425A>C (p.Arg475Ser)
c.1233A>C (p.Arg411Ser)
c.1124A>C
n.999A>C
c.1383A>C (p.Arg461Ser)
c.1251+2517A>C (n.1251+2517A>C)
c.1191A>C (p.Arg397Ser)
c.1008A>C (p.Arg336Ser)
gnomAD v4
1g.77935996A>GCA418709482NEXNc.1425A>G (p.Arg475=)
c.1233A>G (p.Arg411=)
c.1124A>G
n.999A>G
c.1383A>G (p.Arg461=)
c.1251+2517A>G (n.1251+2517A>G)
c.1191A>G (p.Arg397=)
c.1008A>G (p.Arg336=)
dbSNP gnomAD v2 gnomAD v4
1g.77935996A>TCA340879331NEXNc.1425A>T (p.Arg475Ser)
c.1233A>T (p.Arg411Ser)
c.1124A>T
n.999A>T
c.1383A>T (p.Arg461Ser)
c.1251+2517A>T (n.1251+2517A>T)
c.1191A>T (p.Arg397Ser)
c.1008A>T (p.Arg336Ser)
1g.77935997G>ACA340879339NEXNc.1426G>A (p.Ala476Thr)
c.1234G>A (p.Ala412Thr)
c.1125G>A
n.1000G>A
c.1384G>A (p.Ala462Thr)
c.1251+2518G>A (n.1251+2518G>A)
c.1192G>A (p.Ala398Thr)
c.1009G>A (p.Ala337Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935997G>CCA340879340NEXNc.1426G>C (p.Ala476Pro)
c.1234G>C (p.Ala412Pro)
c.1125G>C
n.1000G>C
c.1384G>C (p.Ala462Pro)
c.1251+2518G>C (n.1251+2518G>C)
c.1192G>C (p.Ala398Pro)
c.1009G>C (p.Ala337Pro)
dbSNP gnomAD v3 gnomAD v4
1g.77935997G=CA1177628336NEXNc.1426G= (p.Ala476=)
c.1234G= (p.Ala412=)
c.1125G=
n.1000G=
c.1384G= (p.Ala462=)
c.1251+2518G= (n.1251+2518G=)
c.1192G= (p.Ala398=)
c.1009G= (p.Ala337=)
1g.77935997G>TCA340879333NEXNc.1426G>T (p.Ala476Ser)
c.1234G>T (p.Ala412Ser)
c.1125G>T
n.1000G>T
c.1384G>T (p.Ala462Ser)
c.1251+2518G>T (n.1251+2518G>T)
c.1192G>T (p.Ala398Ser)
c.1009G>T (p.Ala337Ser)
dbSNP gnomAD v2 gnomAD v4
1g.77935998C>ACA340879343NEXNc.1427C>A (p.Ala476Glu)
c.1235C>A (p.Ala412Glu)
c.1126C>A
n.1001C>A
c.1385C>A (p.Ala462Glu)
c.1251+2519C>A (n.1251+2519C>A)
c.1193C>A (p.Ala398Glu)
c.1010C>A (p.Ala337Glu)
1g.77935998C>GCA340879342NEXNc.1427C>G (p.Ala476Gly)
c.1235C>G (p.Ala412Gly)
c.1126C>G
n.1001C>G
c.1385C>G (p.Ala462Gly)
c.1251+2519C>G (n.1251+2519C>G)
c.1193C>G (p.Ala398Gly)
c.1010C>G (p.Ala337Gly)
1g.77935998C>TCA340879345NEXNc.1427C>T (p.Ala476Val)
c.1235C>T (p.Ala412Val)
c.1126C>T
n.1001C>T
c.1385C>T (p.Ala462Val)
c.1251+2519C>T (n.1251+2519C>T)
c.1193C>T (p.Ala398Val)
c.1010C>T (p.Ala337Val)
1g.77935999A=CA1177628337NEXNc.1428A= (p.Ala476=)
c.1236A= (p.Ala412=)
c.1127A=
n.1002A=
c.1386A= (p.Ala462=)
c.1251+2520A= (n.1251+2520A=)
c.1194A= (p.Ala398=)
c.1011A= (p.Ala337=)
1g.77935999A>CCA918877NEXNc.1428A>C (p.Ala476=)
c.1236A>C (p.Ala412=)
c.1127A>C
n.1002A>C
c.1386A>C (p.Ala462=)
c.1251+2520A>C (n.1251+2520A>C)
c.1194A>C (p.Ala398=)
c.1011A>C (p.Ala337=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935999A>GCA418709485NEXNc.1428A>G (p.Ala476=)
c.1236A>G (p.Ala412=)
c.1127A>G
n.1002A>G
c.1386A>G (p.Ala462=)
c.1251+2520A>G (n.1251+2520A>G)
c.1194A>G (p.Ala398=)
c.1011A>G (p.Ala337=)
1g.77935999A>TCA418709484NEXNc.1428A>T (p.Ala476=)
c.1236A>T (p.Ala412=)
c.1127A>T
n.1002A>T
c.1386A>T (p.Ala462=)
c.1251+2520A>T (n.1251+2520A>T)
c.1194A>T (p.Ala398=)
c.1011A>T (p.Ala337=)
1g.77936000A=CA1177628338NEXNc.1429A= (p.Ile477=)
c.1237A= (p.Ile413=)
c.1128A=
n.1003A=
c.1387A= (p.Ile463=)
c.1251+2521A= (n.1251+2521A=)
c.1195A= (p.Ile399=)
c.1012A= (p.Ile338=)
1g.77936000A>CCA340879347NEXNc.1429A>C (p.Ile477Leu)
c.1237A>C (p.Ile413Leu)
c.1128A>C
n.1003A>C
c.1387A>C (p.Ile463Leu)
c.1251+2521A>C (n.1251+2521A>C)
c.1195A>C (p.Ile399Leu)
c.1012A>C (p.Ile338Leu)
1g.77936000A>GCA340879348NEXNc.1429A>G (p.Ile477Val)
c.1237A>G (p.Ile413Val)
c.1128A>G
n.1003A>G
c.1387A>G (p.Ile463Val)
c.1251+2521A>G (n.1251+2521A>G)
c.1195A>G (p.Ile399Val)
c.1012A>G (p.Ile338Val)
ClinVar dbSNP
1g.77936000A>TCA340879350NEXNc.1429A>T (p.Ile477Phe)
c.1237A>T (p.Ile413Phe)
c.1128A>T
n.1003A>T
c.1387A>T (p.Ile463Phe)
c.1251+2521A>T (n.1251+2521A>T)
c.1195A>T (p.Ile399Phe)
c.1012A>T (p.Ile338Phe)
1g.77936001T>ACA340879352NEXNc.1430T>A (p.Ile477Asn)
c.1238T>A (p.Ile413Asn)
c.1129T>A
n.1004T>A
c.1388T>A (p.Ile463Asn)
c.1251+2522T>A (n.1251+2522T>A)
c.1196T>A (p.Ile399Asn)
c.1013T>A (p.Ile338Asn)
1g.77936001T>CCA335442NEXNc.1430T>C (p.Ile477Thr)
c.1238T>C (p.Ile413Thr)
c.1129T>C
n.1004T>C
c.1388T>C (p.Ile463Thr)
c.1251+2522T>C (n.1251+2522T>C)
c.1196T>C (p.Ile399Thr)
c.1013T>C (p.Ile338Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77936001T>GCA183791NEXNc.1430T>G (p.Ile477Ser)
c.1238T>G (p.Ile413Ser)
c.1129T>G
n.1004T>G
c.1388T>G (p.Ile463Ser)
c.1251+2522T>G (n.1251+2522T>G)
c.1196T>G (p.Ile399Ser)
c.1013T>G (p.Ile338Ser)
ClinVar dbSNP gnomAD v4
1g.77936001T=CA1148224377NEXNc.1430T= (p.Ile477=)
c.1238T= (p.Ile413=)
c.1129T=
n.1004T=
c.1388T= (p.Ile463=)
c.1251+2522T= (n.1251+2522T=)
c.1196T= (p.Ile399=)
c.1013T= (p.Ile338=)
1g.77936002T>ACA418709487NEXNc.1431T>A (p.Ile477=)
c.1239T>A (p.Ile413=)
c.1130T>A
n.1005T>A
c.1389T>A (p.Ile463=)
c.1251+2523T>A (n.1251+2523T>A)
c.1197T>A (p.Ile399=)
c.1014T>A (p.Ile338=)
gnomAD v4
1g.77936002T>CCA418709490NEXNc.1431T>C (p.Ile477=)
c.1239T>C (p.Ile413=)
c.1130T>C
n.1005T>C
c.1389T>C (p.Ile463=)
c.1251+2523T>C (n.1251+2523T>C)
c.1197T>C (p.Ile399=)
c.1014T>C (p.Ile338=)
ClinVar gnomAD v4
1g.77936002T>GCA340879354NEXNc.1431T>G (p.Ile477Met)
c.1239T>G (p.Ile413Met)
c.1130T>G
n.1005T>G
c.1389T>G (p.Ile463Met)
c.1251+2523T>G (n.1251+2523T>G)
c.1197T>G (p.Ile399Met)
c.1014T>G (p.Ile338Met)
1g.77936003G>ACA340879355NEXNc.1432G>A (p.Asp478Asn)
c.1240G>A (p.Asp414Asn)
c.1131G>A
n.1006G>A
c.1390G>A (p.Asp464Asn)
c.1251+2524G>A (n.1251+2524G>A)
c.1198G>A (p.Asp400Asn)
c.1015G>A (p.Asp339Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.77936003G>CCA340879357NEXNc.1432G>C (p.Asp478His)
c.1240G>C (p.Asp414His)
c.1131G>C
n.1006G>C
c.1390G>C (p.Asp464His)
c.1251+2524G>C (n.1251+2524G>C)
c.1198G>C (p.Asp400His)
c.1015G>C (p.Asp339His)
1g.77936003G=CA1177628339NEXNc.1432G= (p.Asp478=)
c.1240G= (p.Asp414=)
c.1131G=
n.1006G=
c.1390G= (p.Asp464=)
c.1251+2524G= (n.1251+2524G=)
c.1198G= (p.Asp400=)
c.1015G= (p.Asp339=)
1g.77936003G>TCA340879359NEXNc.1432G>T (p.Asp478Tyr)
c.1240G>T (p.Asp414Tyr)
c.1131G>T
n.1006G>T
c.1390G>T (p.Asp464Tyr)
c.1251+2524G>T (n.1251+2524G>T)
c.1198G>T (p.Asp400Tyr)
c.1015G>T (p.Asp339Tyr)
gnomAD v4
1g.77936004A>CCA340879360NEXNc.1433A>C (p.Asp478Ala)
c.1241A>C (p.Asp414Ala)
c.1132A>C
n.1007A>C
c.1391A>C (p.Asp464Ala)
c.1251+2525A>C (n.1251+2525A>C)
c.1199A>C (p.Asp400Ala)
c.1016A>C (p.Asp339Ala)
1g.77936004A>GCA340879361NEXNc.1433A>G (p.Asp478Gly)
c.1241A>G (p.Asp414Gly)
c.1132A>G
n.1007A>G
c.1391A>G (p.Asp464Gly)
c.1251+2525A>G (n.1251+2525A>G)
c.1199A>G (p.Asp400Gly)
c.1016A>G (p.Asp339Gly)
1g.77936004A>TCA340879363NEXNc.1433A>T (p.Asp478Val)
c.1241A>T (p.Asp414Val)
c.1132A>T
n.1007A>T
c.1391A>T (p.Asp464Val)
c.1251+2525A>T (n.1251+2525A>T)
c.1199A>T (p.Asp400Val)
c.1016A>T (p.Asp339Val)
1g.77936005C>ACA340879365NEXNc.1434C>A (p.Asp478Glu)
c.1242C>A (p.Asp414Glu)
c.1133C>A
n.1008C>A
c.1392C>A (p.Asp464Glu)
c.1251+2526C>A (n.1251+2526C>A)
c.1200C>A (p.Asp400Glu)
c.1017C>A (p.Asp339Glu)
1g.77936005C=CA1177628340NEXNc.1434C= (p.Asp478=)
c.1242C= (p.Asp414=)
c.1133C=
n.1008C=
c.1392C= (p.Asp464=)
c.1251+2526C= (n.1251+2526C=)
c.1200C= (p.Asp400=)
c.1017C= (p.Asp339=)
1g.77936005C>GCA340879370NEXNc.1434C>G (p.Asp478Glu)
c.1242C>G (p.Asp414Glu)
c.1133C>G
n.1008C>G
c.1392C>G (p.Asp464Glu)
c.1251+2526C>G (n.1251+2526C>G)
c.1200C>G (p.Asp400Glu)
c.1017C>G (p.Asp339Glu)
dbSNP
1g.77936005C>TCA418709494NEXNc.1434C>T (p.Asp478=)
c.1242C>T (p.Asp414=)
c.1133C>T
n.1008C>T
c.1392C>T (p.Asp464=)
c.1251+2526C>T (n.1251+2526C>T)
c.1200C>T (p.Asp400=)
c.1017C>T (p.Asp339=)
gnomAD v4
1g.77936006C>ACA340879371NEXNc.1435C>A (p.Leu479Ile)
c.1243C>A (p.Leu415Ile)
c.1134C>A
n.1009C>A
c.1393C>A (p.Leu465Ile)
c.1251+2527C>A (n.1251+2527C>A)
c.1201C>A (p.Leu401Ile)
c.1018C>A (p.Leu340Ile)
1g.77936006C=CA1142483760NEXNc.1435C= (p.Leu479=)
c.1243C= (p.Leu415=)
c.1134C=
n.1009C=
c.1393C= (p.Leu465=)
c.1251+2527C= (n.1251+2527C=)
c.1201C= (p.Leu401=)
c.1018C= (p.Leu340=)
1g.77936006C>GCA340879373NEXNc.1435C>G (p.Leu479Val)
c.1243C>G (p.Leu415Val)
c.1134C>G
n.1009C>G
c.1393C>G (p.Leu465Val)
c.1251+2527C>G (n.1251+2527C>G)
c.1201C>G (p.Leu401Val)
c.1018C>G (p.Leu340Val)
1g.77936006C>TCA335415NEXNc.1435C>T (p.Leu479Phe)
c.1243C>T (p.Leu415Phe)
c.1134C>T
n.1009C>T
c.1393C>T (p.Leu465Phe)
c.1251+2527C>T (n.1251+2527C>T)
c.1201C>T (p.Leu401Phe)
c.1018C>T (p.Leu340Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77936007T>ACA340879375NEXNc.1436T>A (p.Leu479His)
c.1244T>A (p.Leu415His)
c.1135T>A
n.1010T>A
c.1394T>A (p.Leu465His)
c.1251+2528T>A (n.1251+2528T>A)
c.1202T>A (p.Leu401His)
c.1019T>A (p.Leu340His)
1g.77936007T>CCA340879377NEXNc.1436T>C (p.Leu479Pro)
c.1244T>C (p.Leu415Pro)
c.1135T>C
n.1010T>C
c.1394T>C (p.Leu465Pro)
c.1251+2528T>C (n.1251+2528T>C)
c.1202T>C (p.Leu401Pro)
c.1019T>C (p.Leu340Pro)
1g.77936007T>GCA340879379NEXNc.1436T>G (p.Leu479Arg)
c.1244T>G (p.Leu415Arg)
c.1135T>G
n.1010T>G
c.1394T>G (p.Leu465Arg)
c.1251+2528T>G (n.1251+2528T>G)
c.1202T>G (p.Leu401Arg)
c.1019T>G (p.Leu340Arg)
1g.77936008T>ACA418709498NEXNc.1437T>A (p.Leu479=)
c.1245T>A (p.Leu415=)
c.1136T>A
n.1011T>A
c.1395T>A (p.Leu465=)
c.1251+2529T>A (n.1251+2529T>A)
c.1203T>A (p.Leu401=)
c.1020T>A (p.Leu340=)
1g.77936008T>CCA418709500NEXNc.1437T>C (p.Leu479=)
c.1245T>C (p.Leu415=)
c.1136T>C
n.1011T>C
c.1395T>C (p.Leu465=)
c.1251+2529T>C (n.1251+2529T>C)
c.1203T>C (p.Leu401=)
c.1020T>C (p.Leu340=)
gnomAD v4
1g.77936008T>GCA418709499NEXNc.1437T>G (p.Leu479=)
c.1245T>G (p.Leu415=)
c.1136T>G
n.1011T>G
c.1395T>G (p.Leu465=)
c.1251+2529T>G (n.1251+2529T>G)
c.1203T>G (p.Leu401=)
c.1020T>G (p.Leu340=)
ClinVar dbSNP gnomAD v4
1g.77936009G>ACA340879380NEXNc.1438G>A (p.Glu480Lys)
c.1246G>A (p.Glu416Lys)
c.1137G>A
n.1012G>A
c.1396G>A (p.Glu466Lys)
c.1251+2530G>A (n.1251+2530G>A)
c.1204G>A (p.Glu402Lys)
c.1021G>A (p.Glu341Lys)
1g.77936009G>CCA340879382NEXNc.1438G>C (p.Glu480Gln)
c.1246G>C (p.Glu416Gln)
c.1137G>C
n.1012G>C
c.1396G>C (p.Glu466Gln)
c.1251+2530G>C (n.1251+2530G>C)
c.1204G>C (p.Glu402Gln)
c.1021G>C (p.Glu341Gln)
1g.77936009G>TCA340879383NEXNc.1438G>T (p.Glu480Ter)
c.1246G>T (p.Glu416Ter)
c.1137G>T
n.1012G>T
c.1396G>T (p.Glu466Ter)
c.1251+2530G>T (n.1251+2530G>T)
c.1204G>T (p.Glu402Ter)
c.1021G>T (p.Glu341Ter)
1g.77936010A=CA1177628341NEXNc.1439A= (p.Glu480=)
c.1247A= (p.Glu416=)
c.1138A=
n.1013A=
c.1397A= (p.Glu466=)
c.1251+2531A= (n.1251+2531A=)
c.1205A= (p.Glu402=)
c.1022A= (p.Glu341=)
1g.77936010A>CCA340879384NEXNc.1439A>C (p.Glu480Ala)
c.1247A>C (p.Glu416Ala)
c.1138A>C
n.1013A>C
c.1397A>C (p.Glu466Ala)
c.1251+2531A>C (n.1251+2531A>C)
c.1205A>C (p.Glu402Ala)
c.1022A>C (p.Glu341Ala)
1g.77936010A>GCA340879386NEXNc.1439A>G (p.Glu480Gly)
c.1247A>G (p.Glu416Gly)
c.1138A>G
n.1013A>G
c.1397A>G (p.Glu466Gly)
c.1251+2531A>G (n.1251+2531A>G)
c.1205A>G (p.Glu402Gly)
c.1022A>G (p.Glu341Gly)
gnomAD v4
1g.77936010A>TCA340879388NEXNc.1439A>T (p.Glu480Val)
c.1247A>T (p.Glu416Val)
c.1138A>T
n.1013A>T
c.1397A>T (p.Glu466Val)
c.1251+2531A>T (n.1251+2531A>T)
c.1205A>T (p.Glu402Val)
c.1022A>T (p.Glu341Val)
1g.77936011A>CCA340879390NEXNc.1440A>C (p.Glu480Asp)
c.1248A>C (p.Glu416Asp)
c.1139A>C
n.1014A>C
c.1398A>C (p.Glu466Asp)
c.1251+2532A>C (n.1251+2532A>C)
c.1206A>C (p.Glu402Asp)
c.1023A>C (p.Glu341Asp)
1g.77936011A>GCA418709504NEXNc.1440A>G (p.Glu480=)
c.1248A>G (p.Glu416=)
c.1139A>G
n.1014A>G
c.1398A>G (p.Glu466=)
c.1251+2532A>G (n.1251+2532A>G)
c.1206A>G (p.Glu402=)
c.1023A>G (p.Glu341=)
1g.77936011A>TCA340879389NEXNc.1440A>T (p.Glu480Asp)
c.1248A>T (p.Glu416Asp)
c.1139A>T
n.1014A>T
c.1398A>T (p.Glu466Asp)
c.1251+2532A>T (n.1251+2532A>T)
c.1206A>T (p.Glu402Asp)
c.1023A>T (p.Glu341Asp)
1g.77936012_77936069dupCA1003482999NEXNc.1441_1473+25dup
c.1249_1281+25dup
c.1140_1172+25dup
n.1015_1047+25dup
c.1399_1431+25dup
c.1251+2533_1251+2590dup (n.1251+2533_1251+2590dup)
c.1207_1239+25dup
c.1024_1056+25dup
dbSNP gnomAD v3 gnomAD v4
1g.77936012A>CCA340879392NEXNc.1441A>C (p.Ile481Leu)
c.1249A>C (p.Ile417Leu)
c.1140A>C
n.1015A>C
c.1399A>C (p.Ile467Leu)
c.1251+2533A>C (n.1251+2533A>C)
c.1207A>C (p.Ile403Leu)
c.1024A>C (p.Ile342Leu)
1g.77936012A>GCA340879396NEXNc.1441A>G (p.Ile481Val)
c.1249A>G (p.Ile417Val)
c.1140A>G
n.1015A>G
c.1399A>G (p.Ile467Val)
c.1251+2533A>G (n.1251+2533A>G)
c.1207A>G (p.Ile403Val)
c.1024A>G (p.Ile342Val)
1g.77936012A>TCA340879397NEXNc.1441A>T (p.Ile481Phe)
c.1249A>T (p.Ile417Phe)
c.1140A>T
n.1015A>T
c.1399A>T (p.Ile467Phe)
c.1251+2533A>T (n.1251+2533A>T)
c.1207A>T (p.Ile403Phe)
c.1024A>T (p.Ile342Phe)
1g.77936013T>ACA340879399NEXNc.1442T>A (p.Ile481Asn)
c.1250T>A (p.Ile417Asn)
c.1141T>A
n.1016T>A
c.1400T>A (p.Ile467Asn)
c.1251+2534T>A (n.1251+2534T>A)
c.1208T>A (p.Ile403Asn)
c.1025T>A (p.Ile342Asn)
1g.77936013T>CCA340879400NEXNc.1442T>C (p.Ile481Thr)
c.1250T>C (p.Ile417Thr)
c.1141T>C
n.1016T>C
c.1400T>C (p.Ile467Thr)
c.1251+2534T>C (n.1251+2534T>C)
c.1208T>C (p.Ile403Thr)
c.1025T>C (p.Ile342Thr)
1g.77936013T>GCA340879402NEXNc.1442T>G (p.Ile481Ser)
c.1250T>G (p.Ile417Ser)
c.1141T>G
n.1016T>G
c.1400T>G (p.Ile467Ser)
c.1251+2534T>G (n.1251+2534T>G)
c.1208T>G (p.Ile403Ser)
c.1025T>G (p.Ile342Ser)
COSMIC COSMIC
1g.77936014T>ACA418709507NEXNc.1443T>A (p.Ile481=)
c.1251T>A (p.Ile417=)
c.1142T>A
n.1017T>A
c.1401T>A (p.Ile467=)
c.1251+2535T>A (n.1251+2535T>A)
c.1209T>A (p.Ile403=)
c.1026T>A (p.Ile342=)
1g.77936014T>CCA418709506NEXNc.1443T>C (p.Ile481=)
c.1251T>C (p.Ile417=)
c.1142T>C
n.1017T>C
c.1401T>C (p.Ile467=)
c.1251+2535T>C (n.1251+2535T>C)
c.1209T>C (p.Ile403=)
c.1026T>C (p.Ile342=)
1g.77936014T>GCA340879403NEXNc.1443T>G (p.Ile481Met)
c.1251T>G (p.Ile417Met)
c.1142T>G
n.1017T>G
c.1401T>G (p.Ile467Met)
c.1251+2535T>G (n.1251+2535T>G)
c.1209T>G (p.Ile403Met)
c.1026T>G (p.Ile342Met)
1g.77936014_77936016delinsTAACA1177628342NEXNc.1443_1445delinsTAA (p.Ile481=)
c.1251_1253delinsTAA (p.Ile417=)
c.1142_1144delinsTAA
n.1017_1019delinsTAA
c.1401_1403delinsTAA (p.Ile467=)
c.1251+2535_1251+2537delinsTAA (n.1251+2535_1251+2537delinsTAA)
c.1209_1211delinsTAA (p.Ile403=)
c.1026_1028delinsTAA (p.Ile342=)
1g.77936015A>CCA340879406NEXNc.1444A>C (p.Lys482Gln)
c.1252A>C (p.Lys418Gln)
c.1143A>C
n.1018A>C
c.1402A>C (p.Lys468Gln)
c.1251+2536A>C (n.1251+2536A>C)
c.1210A>C (p.Lys404Gln)
c.1027A>C (p.Lys343Gln)
1g.77936015A>GCA340879408NEXNc.1444A>G (p.Lys482Glu)
c.1252A>G (p.Lys418Glu)
c.1143A>G
n.1018A>G
c.1402A>G (p.Lys468Glu)
c.1251+2536A>G (n.1251+2536A>G)
c.1210A>G (p.Lys404Glu)
c.1027A>G (p.Lys343Glu)
gnomAD v4
1g.77936015A>TCA340879409NEXNc.1444A>T (p.Lys482Ter)
c.1252A>T (p.Lys418Ter)
c.1143A>T
n.1018A>T
c.1402A>T (p.Lys468Ter)
c.1251+2536A>T (n.1251+2536A>T)
c.1210A>T (p.Lys404Ter)
c.1027A>T (p.Lys343Ter)
1g.77936016_77936017delCA335459NEXNc.1445_1446del (p.Lys482ArgfsTer5)
c.1253_1254del (p.Lys418ArgfsTer5)
c.1144_1145del
n.1019_1020del
c.1403_1404del (p.Lys468ArgfsTer5)
c.1251+2537_1251+2538del (n.1251+2537_1251+2538del)
c.1211_1212del (p.Lys404ArgfsTer5)
c.1028_1029del (p.Lys343ArgfsTer5)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77936016A=CA1177628343NEXNc.1445A= (p.Lys482=)
c.1253A= (p.Lys418=)
c.1144A=
n.1019A=
c.1403A= (p.Lys468=)
c.1251+2537A= (n.1251+2537A=)
c.1211A= (p.Lys404=)
c.1028A= (p.Lys343=)
1g.77936016A>CCA340879412NEXNc.1445A>C (p.Lys482Thr)
c.1253A>C (p.Lys418Thr)
c.1144A>C
n.1019A>C
c.1403A>C (p.Lys468Thr)
c.1251+2537A>C (n.1251+2537A>C)
c.1211A>C (p.Lys404Thr)
c.1028A>C (p.Lys343Thr)
1g.77936016A>GCA918878NEXNc.1445A>G (p.Lys482Arg)
c.1253A>G (p.Lys418Arg)
c.1144A>G
n.1019A>G
c.1403A>G (p.Lys468Arg)
c.1251+2537A>G (n.1251+2537A>G)
c.1211A>G (p.Lys404Arg)
c.1028A>G (p.Lys343Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77936016A>TCA340879414NEXNc.1445A>T (p.Lys482Ile)
c.1253A>T (p.Lys418Ile)
c.1144A>T
n.1019A>T
c.1403A>T (p.Lys468Ile)
c.1251+2537A>T (n.1251+2537A>T)
c.1211A>T (p.Lys404Ile)
c.1028A>T (p.Lys343Ile)
1g.77936017A>CCA340879416NEXNc.1446A>C (p.Lys482Asn)
c.1254A>C (p.Lys418Asn)
c.1145A>C
n.1020A>C
c.1404A>C (p.Lys468Asn)
c.1251+2538A>C (n.1251+2538A>C)
c.1212A>C (p.Lys404Asn)
c.1029A>C (p.Lys343Asn)
1g.77936017A>GCA418709509NEXNc.1446A>G (p.Lys482=)
c.1254A>G (p.Lys418=)
c.1145A>G
n.1020A>G
c.1404A>G (p.Lys468=)
c.1251+2538A>G (n.1251+2538A>G)
c.1212A>G (p.Lys404=)
c.1029A>G (p.Lys343=)
1g.77936017A>TCA340879415NEXNc.1446A>T (p.Lys482Asn)
c.1254A>T (p.Lys418Asn)
c.1145A>T
n.1020A>T
c.1404A>T (p.Lys468Asn)
c.1251+2538A>T (n.1251+2538A>T)
c.1212A>T (p.Lys404Asn)
c.1029A>T (p.Lys343Asn)
1g.77936018G>ACA340879418NEXNc.1447G>A (p.Glu483Lys)
c.1255G>A (p.Glu419Lys)
c.1146G>A
n.1021G>A
c.1405G>A (p.Glu469Lys)
c.1251+2539G>A (n.1251+2539G>A)
c.1213G>A (p.Glu405Lys)
c.1030G>A (p.Glu344Lys)
1g.77936018G>CCA340879419NEXNc.1447G>C (p.Glu483Gln)
c.1255G>C (p.Glu419Gln)
c.1146G>C
n.1021G>C
c.1405G>C (p.Glu469Gln)
c.1251+2539G>C (n.1251+2539G>C)
c.1213G>C (p.Glu405Gln)
c.1030G>C (p.Glu344Gln)
gnomAD v4
1g.77936018G>TCA340879420NEXNc.1447G>T (p.Glu483Ter)
c.1255G>T (p.Glu419Ter)
c.1146G>T
n.1021G>T
c.1405G>T (p.Glu469Ter)
c.1251+2539G>T (n.1251+2539G>T)
c.1213G>T (p.Glu405Ter)
c.1030G>T (p.Glu344Ter)
1g.77936019A>CCA340879422NEXNc.1448A>C (p.Glu483Ala)
c.1256A>C (p.Glu419Ala)
c.1147A>C
n.1022A>C
c.1406A>C (p.Glu469Ala)
c.1251+2540A>C (n.1251+2540A>C)
c.1214A>C (p.Glu405Ala)
c.1031A>C (p.Glu344Ala)
1g.77936019A>GCA340879424NEXNc.1448A>G (p.Glu483Gly)
c.1256A>G (p.Glu419Gly)
c.1147A>G
n.1022A>G
c.1406A>G (p.Glu469Gly)
c.1251+2540A>G (n.1251+2540A>G)
c.1214A>G (p.Glu405Gly)
c.1031A>G (p.Glu344Gly)
gnomAD v4
1g.77936019A>TCA340879425NEXNc.1448A>T (p.Glu483Val)
c.1256A>T (p.Glu419Val)
c.1147A>T
n.1022A>T
c.1406A>T (p.Glu469Val)
c.1251+2540A>T (n.1251+2540A>T)
c.1214A>T (p.Glu405Val)
c.1031A>T (p.Glu344Val)
1g.77936020G>ACA418709513NEXNc.1449G>A (p.Glu483=)
c.1257G>A (p.Glu419=)
c.1148G>A
n.1023G>A
c.1407G>A (p.Glu469=)
c.1251+2541G>A (n.1251+2541G>A)
c.1215G>A (p.Glu405=)
c.1032G>A (p.Glu344=)
1g.77936020G>CCA340879428NEXNc.1449G>C (p.Glu483Asp)
c.1257G>C (p.Glu419Asp)
c.1148G>C
n.1023G>C
c.1407G>C (p.Glu469Asp)
c.1251+2541G>C (n.1251+2541G>C)
c.1215G>C (p.Glu405Asp)
c.1032G>C (p.Glu344Asp)
1g.77936020G>TCA340879427NEXNc.1449G>T (p.Glu483Asp)
c.1257G>T (p.Glu419Asp)
c.1148G>T
n.1023G>T
c.1407G>T (p.Glu469Asp)
c.1251+2541G>T (n.1251+2541G>T)
c.1215G>T (p.Glu405Asp)
c.1032G>T (p.Glu344Asp)
1g.77936021C>ACA918880NEXNc.1450C>A (p.Arg484=)
c.1258C>A (p.Arg420=)
c.1149C>A
n.1024C>A
c.1408C>A (p.Arg470=)
c.1251+2542C>A (n.1251+2542C>A)
c.1216C>A (p.Arg406=)
c.1033C>A (p.Arg345=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77936021C=CA1177628344NEXNc.1450C= (p.Arg484=)
c.1258C= (p.Arg420=)
c.1149C=
n.1024C=
c.1408C= (p.Arg470=)
c.1251+2542C= (n.1251+2542C=)
c.1216C= (p.Arg406=)
c.1033C= (p.Arg345=)
1g.77936021C>GCA340879430NEXNc.1450C>G (p.Arg484Gly)
c.1258C>G (p.Arg420Gly)
c.1149C>G
n.1024C>G
c.1408C>G (p.Arg470Gly)
c.1251+2542C>G (n.1251+2542C>G)
c.1216C>G (p.Arg406Gly)
c.1033C>G (p.Arg345Gly)
gnomAD v4
1g.77936021C>TCA918879NEXNc.1450C>T (p.Arg484Ter)
c.1258C>T (p.Arg420Ter)
c.1149C>T
n.1024C>T
c.1408C>T (p.Arg470Ter)
c.1251+2542C>T (n.1251+2542C>T)
c.1216C>T (p.Arg406Ter)
c.1033C>T (p.Arg345Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77936022G>ACA340879432NEXNc.1451G>A (p.Arg484Gln)
c.1259G>A (p.Arg420Gln)
c.1150G>A
n.1025G>A
c.1409G>A (p.Arg470Gln)
c.1251+2543G>A (n.1251+2543G>A)
c.1217G>A (p.Arg406Gln)
c.1034G>A (p.Arg345Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77936022G>CCA340879434NEXNc.1451G>C (p.Arg484Pro)
c.1259G>C (p.Arg420Pro)
c.1150G>C
n.1025G>C
c.1409G>C (p.Arg470Pro)
c.1251+2543G>C (n.1251+2543G>C)
c.1217G>C (p.Arg406Pro)
c.1034G>C (p.Arg345Pro)
dbSNP gnomAD v4
1g.77936022G=CA1177628345NEXNc.1451G= (p.Arg484=)
c.1259G= (p.Arg420=)
c.1150G=
n.1025G=
c.1409G= (p.Arg470=)
c.1251+2543G= (n.1251+2543G=)
c.1217G= (p.Arg406=)
c.1034G= (p.Arg345=)
1g.77936022G>TCA340879435NEXNc.1451G>T (p.Arg484Leu)
c.1259G>T (p.Arg420Leu)
c.1150G>T
n.1025G>T
c.1409G>T (p.Arg470Leu)
c.1251+2543G>T (n.1251+2543G>T)
c.1217G>T (p.Arg406Leu)
c.1034G>T (p.Arg345Leu)
dbSNP gnomAD v3 gnomAD v4
1g.77936023A>CCA418709518NEXNc.1452A>C (p.Arg484=)
c.1260A>C (p.Arg420=)
c.1151A>C
n.1026A>C
c.1410A>C (p.Arg470=)
c.1251+2544A>C (n.1251+2544A>C)
c.1218A>C (p.Arg406=)
c.1035A>C (p.Arg345=)
1g.77936023A>GCA418709520NEXNc.1452A>G (p.Arg484=)
c.1260A>G (p.Arg420=)
c.1151A>G
n.1026A>G
c.1410A>G (p.Arg470=)
c.1251+2544A>G (n.1251+2544A>G)
c.1218A>G (p.Arg406=)
c.1035A>G (p.Arg345=)
1g.77936023A>TCA418709521NEXNc.1452A>T (p.Arg484=)
c.1260A>T (p.Arg420=)
c.1151A>T
n.1026A>T
c.1410A>T (p.Arg470=)
c.1251+2544A>T (n.1251+2544A>T)
c.1218A>T (p.Arg406=)
c.1035A>T (p.Arg345=)
1g.77936024G>ACA142116NEXNc.1453G>A (p.Glu485Lys)
c.1261G>A (p.Glu421Lys)
c.1152G>A
n.1027G>A
c.1411G>A (p.Glu471Lys)
c.1251+2545G>A (n.1251+2545G>A)
c.1219G>A (p.Glu407Lys)
c.1036G>A (p.Glu346Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77936024G>CCA340879438NEXNc.1453G>C (p.Glu485Gln)
c.1261G>C (p.Glu421Gln)
c.1152G>C
n.1027G>C
c.1411G>C (p.Glu471Gln)
c.1251+2545G>C (n.1251+2545G>C)
c.1219G>C (p.Glu407Gln)
c.1036G>C (p.Glu346Gln)
gnomAD v4
1g.77936024G=CA1143622015NEXNc.1453G= (p.Glu485=)
c.1261G= (p.Glu421=)
c.1152G=
n.1027G=
c.1411G= (p.Glu471=)
c.1251+2545G= (n.1251+2545G=)
c.1219G= (p.Glu407=)
c.1036G= (p.Glu346=)
1g.77936024G>TCA340879437NEXNc.1453G>T (p.Glu485Ter)
c.1261G>T (p.Glu421Ter)
c.1152G>T
n.1027G>T
c.1411G>T (p.Glu471Ter)
c.1251+2545G>T (n.1251+2545G>T)
c.1219G>T (p.Glu407Ter)
c.1036G>T (p.Glu346Ter)
1g.77936025A>CCA340879439NEXNc.1454A>C (p.Glu485Ala)
c.1262A>C (p.Glu421Ala)
c.1153A>C
n.1028A>C
c.1412A>C (p.Glu471Ala)
c.1251+2546A>C (n.1251+2546A>C)
c.1220A>C (p.Glu407Ala)
c.1037A>C (p.Glu346Ala)
1g.77936025A>GCA340879440NEXNc.1454A>G (p.Glu485Gly)
c.1262A>G (p.Glu421Gly)
c.1153A>G
n.1028A>G
c.1412A>G (p.Glu471Gly)
c.1251+2546A>G (n.1251+2546A>G)
c.1220A>G (p.Glu407Gly)
c.1037A>G (p.Glu346Gly)
1g.77936025A>TCA340879441NEXNc.1454A>T (p.Glu485Val)
c.1262A>T (p.Glu421Val)
c.1153A>T
n.1028A>T
c.1412A>T (p.Glu471Val)
c.1251+2546A>T (n.1251+2546A>T)
c.1220A>T (p.Glu407Val)
c.1037A>T (p.Glu346Val)
1g.77936026A>CCA340879442NEXNc.1455A>C (p.Glu485Asp)
c.1263A>C (p.Glu421Asp)
c.1154A>C
n.1029A>C
c.1413A>C (p.Glu471Asp)
c.1251+2547A>C (n.1251+2547A>C)
c.1221A>C (p.Glu407Asp)
c.1038A>C (p.Glu346Asp)
gnomAD v4
1g.77936026A>GCA418709523NEXNc.1455A>G (p.Glu485=)
c.1263A>G (p.Glu421=)
c.1154A>G
n.1029A>G
c.1413A>G (p.Glu471=)
c.1251+2547A>G (n.1251+2547A>G)
c.1221A>G (p.Glu407=)
c.1038A>G (p.Glu346=)
1g.77936026A>TCA340879443NEXNc.1455A>T (p.Glu485Asp)
c.1263A>T (p.Glu421Asp)
c.1154A>T
n.1029A>T
c.1413A>T (p.Glu471Asp)
c.1251+2547A>T (n.1251+2547A>T)
c.1221A>T (p.Glu407Asp)
c.1038A>T (p.Glu346Asp)
1g.77936027G>ACA340879448NEXNc.1456G>A (p.Ala486Thr)
c.1264G>A (p.Ala422Thr)
c.1155G>A
n.1030G>A
c.1414G>A (p.Ala472Thr)
c.1251+2548G>A (n.1251+2548G>A)
c.1222G>A (p.Ala408Thr)
c.1039G>A (p.Ala347Thr)
gnomAD v4
1g.77936027G>CCA340879447NEXNc.1456G>C (p.Ala486Pro)
c.1264G>C (p.Ala422Pro)
c.1155G>C
n.1030G>C
c.1414G>C (p.Ala472Pro)
c.1251+2548G>C (n.1251+2548G>C)
c.1222G>C (p.Ala408Pro)
c.1039G>C (p.Ala347Pro)
1g.77936027G>TCA340879445NEXNc.1456G>T (p.Ala486Ser)
c.1264G>T (p.Ala422Ser)
c.1155G>T
n.1030G>T
c.1414G>T (p.Ala472Ser)
c.1251+2548G>T (n.1251+2548G>T)
c.1222G>T (p.Ala408Ser)
c.1039G>T (p.Ala347Ser)
1g.77936028C>ACA340879450NEXNc.1457C>A (p.Ala486Asp)
c.1265C>A (p.Ala422Asp)
c.1156C>A
n.1031C>A
c.1415C>A (p.Ala472Asp)
c.1251+2549C>A (n.1251+2549C>A)
c.1223C>A (p.Ala408Asp)
c.1040C>A (p.Ala347Asp)
1g.77936028C=CA1144228875NEXNc.1457C= (p.Ala486=)
c.1265C= (p.Ala422=)
c.1156C=
n.1031C=
c.1415C= (p.Ala472=)
c.1251+2549C= (n.1251+2549C=)
c.1223C= (p.Ala408=)
c.1040C= (p.Ala347=)
1g.77936028C>GCA142119NEXNc.1457C>G (p.Ala486Gly)
c.1265C>G (p.Ala422Gly)
c.1156C>G
n.1031C>G
c.1415C>G (p.Ala472Gly)
c.1251+2549C>G (n.1251+2549C>G)
c.1223C>G (p.Ala408Gly)
c.1040C>G (p.Ala347Gly)
ClinVar dbSNP gnomAD v4
1g.77936028C>TCA918881NEXNc.1457C>T (p.Ala486Val)
c.1265C>T (p.Ala422Val)
c.1156C>T
n.1031C>T
c.1415C>T (p.Ala472Val)
c.1251+2549C>T (n.1251+2549C>T)
c.1223C>T (p.Ala408Val)
c.1040C>T (p.Ala347Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77936029T>ACA418709526NEXNc.1458T>A (p.Ala486=)
c.1266T>A (p.Ala422=)
c.1157T>A
n.1032T>A
c.1416T>A (p.Ala472=)
c.1251+2550T>A (n.1251+2550T>A)
c.1224T>A (p.Ala408=)
c.1041T>A (p.Ala347=)
1g.77936029T>CCA418709528NEXNc.1458T>C (p.Ala486=)
c.1266T>C (p.Ala422=)
c.1157T>C
n.1032T>C
c.1416T>C (p.Ala472=)
c.1251+2550T>C (n.1251+2550T>C)
c.1224T>C (p.Ala408=)
c.1041T>C (p.Ala347=)
gnomAD v4
1g.77936029T>GCA418709527NEXNc.1458T>G (p.Ala486=)
c.1266T>G (p.Ala422=)
c.1157T>G
n.1032T>G
c.1416T>G (p.Ala472=)
c.1251+2550T>G (n.1251+2550T>G)
c.1224T>G (p.Ala408=)
c.1041T>G (p.Ala347=)
1g.77936030G>ACA340879452NEXNc.1459G>A (p.Glu487Lys)
c.1267G>A (p.Glu423Lys)
c.1158G>A
n.1033G>A
c.1417G>A (p.Glu473Lys)
c.1251+2551G>A (n.1251+2551G>A)
c.1225G>A (p.Glu409Lys)
c.1042G>A (p.Glu348Lys)
1g.77936030G>CCA340879453NEXNc.1459G>C (p.Glu487Gln)
c.1267G>C (p.Glu423Gln)
c.1158G>C
n.1033G>C
c.1417G>C (p.Glu473Gln)
c.1251+2551G>C (n.1251+2551G>C)
c.1225G>C (p.Glu409Gln)
c.1042G>C (p.Glu348Gln)
1g.77936030G>TCA340879454NEXNc.1459G>T (p.Glu487Ter)
c.1267G>T (p.Glu423Ter)
c.1158G>T
n.1033G>T
c.1417G>T (p.Glu473Ter)
c.1251+2551G>T (n.1251+2551G>T)
c.1225G>T (p.Glu409Ter)
c.1042G>T (p.Glu348Ter)
1g.77936031A=CA1177628346NEXNc.1460A= (p.Glu487=)
c.1268A= (p.Glu423=)
c.1159A=
n.1034A=
c.1418A= (p.Glu473=)
c.1251+2552A= (n.1251+2552A=)
c.1226A= (p.Glu409=)
c.1043A= (p.Glu348=)
1g.77936031A>CCA340879457NEXNc.1460A>C (p.Glu487Ala)
c.1268A>C (p.Glu423Ala)
c.1159A>C
n.1034A>C
c.1418A>C (p.Glu473Ala)
c.1251+2552A>C (n.1251+2552A>C)
c.1226A>C (p.Glu409Ala)
c.1043A>C (p.Glu348Ala)
1g.77936031A>GCA340879455NEXNc.1460A>G (p.Glu487Gly)
c.1268A>G (p.Glu423Gly)
c.1159A>G
n.1034A>G
c.1418A>G (p.Glu473Gly)
c.1251+2552A>G (n.1251+2552A>G)
c.1226A>G (p.Glu409Gly)
c.1043A>G (p.Glu348Gly)
1g.77936031A>TCA340879456NEXNc.1460A>T (p.Glu487Val)
c.1268A>T (p.Glu423Val)
c.1159A>T
n.1034A>T
c.1418A>T (p.Glu473Val)
c.1251+2552A>T (n.1251+2552A>T)
c.1226A>T (p.Glu409Val)
c.1043A>T (p.Glu348Val)
dbSNP gnomAD v3 gnomAD v4
1g.77936032A>CCA340879459NEXNc.1461A>C (p.Glu487Asp)
c.1269A>C (p.Glu423Asp)
c.1160A>C
n.1035A>C
c.1419A>C (p.Glu473Asp)
c.1251+2553A>C (n.1251+2553A>C)
c.1227A>C (p.Glu409Asp)
c.1044A>C (p.Glu348Asp)
1g.77936032A>GCA418709532NEXNc.1461A>G (p.Glu487=)
c.1269A>G (p.Glu423=)
c.1160A>G
n.1035A>G
c.1419A>G (p.Glu473=)
c.1251+2553A>G (n.1251+2553A>G)
c.1227A>G (p.Glu409=)
c.1044A>G (p.Glu348=)
1g.77936032A>TCA340879461NEXNc.1461A>T (p.Glu487Asp)
c.1269A>T (p.Glu423Asp)
c.1160A>T
n.1035A>T
c.1419A>T (p.Glu473Asp)
c.1251+2553A>T (n.1251+2553A>T)
c.1227A>T (p.Glu409Asp)
c.1044A>T (p.Glu348Asp)
1g.77936033A>CCA340879465NEXNc.1462A>C (p.Asn488His)
c.1270A>C (p.Asn424His)
c.1161A>C
n.1036A>C
c.1420A>C (p.Asn474His)
c.1251+2554A>C (n.1251+2554A>C)
c.1228A>C (p.Asn410His)
c.1045A>C (p.Asn349His)
1g.77936033A>GCA340879466NEXNc.1462A>G (p.Asn488Asp)
c.1270A>G (p.Asn424Asp)
c.1161A>G
n.1036A>G
c.1420A>G (p.Asn474Asp)
c.1251+2554A>G (n.1251+2554A>G)
c.1228A>G (p.Asn410Asp)
c.1045A>G (p.Asn349Asp)
1g.77936033A>TCA340879468NEXNc.1462A>T (p.Asn488Tyr)
c.1270A>T (p.Asn424Tyr)
c.1161A>T
n.1036A>T
c.1420A>T (p.Asn474Tyr)
c.1251+2554A>T (n.1251+2554A>T)
c.1228A>T (p.Asn410Tyr)
c.1045A>T (p.Asn349Tyr)
1g.77936034A=CA1177628347NEXNc.1463A= (p.Asn488=)
c.1271A= (p.Asn424=)
c.1162A=
n.1037A=
c.1421A= (p.Asn474=)
c.1251+2555A= (n.1251+2555A=)
c.1229A= (p.Asn410=)
c.1046A= (p.Asn349=)
1g.77936034A>CCA340879470NEXNc.1463A>C (p.Asn488Thr)
c.1271A>C (p.Asn424Thr)
c.1162A>C
n.1037A>C
c.1421A>C (p.Asn474Thr)
c.1251+2555A>C (n.1251+2555A>C)
c.1229A>C (p.Asn410Thr)
c.1046A>C (p.Asn349Thr)
1g.77936034A>GCA340879474NEXNc.1463A>G (p.Asn488Ser)
c.1271A>G (p.Asn424Ser)
c.1162A>G
n.1037A>G
c.1421A>G (p.Asn474Ser)
c.1251+2555A>G (n.1251+2555A>G)
c.1229A>G (p.Asn410Ser)
c.1046A>G (p.Asn349Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77936034A>TCA340879476NEXNc.1463A>T (p.Asn488Ile)
c.1271A>T (p.Asn424Ile)
c.1162A>T
n.1037A>T
c.1421A>T (p.Asn474Ile)
c.1251+2555A>T (n.1251+2555A>T)
c.1229A>T (p.Asn410Ile)
c.1046A>T (p.Asn349Ile)
1g.77936035T>ACA340879477NEXNc.1464T>A (p.Asn488Lys)
c.1272T>A (p.Asn424Lys)
c.1163T>A
n.1038T>A
c.1422T>A (p.Asn474Lys)
c.1251+2556T>A (n.1251+2556T>A)
c.1230T>A (p.Asn410Lys)
c.1047T>A (p.Asn349Lys)
1g.77936035T>CCA418709534NEXNc.1464T>C (p.Asn488=)
c.1272T>C (p.Asn424=)
c.1163T>C
n.1038T>C
c.1422T>C (p.Asn474=)
c.1251+2556T>C (n.1251+2556T>C)
c.1230T>C (p.Asn410=)
c.1047T>C (p.Asn349=)
1g.77936035T>GCA340879479NEXNc.1464T>G (p.Asn488Lys)
c.1272T>G (p.Asn424Lys)
c.1163T>G
n.1038T>G
c.1422T>G (p.Asn474Lys)
c.1251+2556T>G (n.1251+2556T>G)
c.1230T>G (p.Asn410Lys)
c.1047T>G (p.Asn349Lys)
1g.77936036T>ACA340879480NEXNc.1465T>A (p.Phe489Ile)
c.1273T>A (p.Phe425Ile)
c.1164T>A
n.1039T>A
c.1423T>A (p.Phe475Ile)
c.1251+2557T>A (n.1251+2557T>A)
c.1231T>A (p.Phe411Ile)
c.1048T>A (p.Phe350Ile)
1g.77936036T>CCA340879483NEXNc.1465T>C (p.Phe489Leu)
c.1273T>C (p.Phe425Leu)
c.1164T>C
n.1039T>C
c.1423T>C (p.Phe475Leu)
c.1251+2557T>C (n.1251+2557T>C)
c.1231T>C (p.Phe411Leu)
c.1048T>C (p.Phe350Leu)
gnomAD v4
1g.77936036T>GCA340879485NEXNc.1465T>G (p.Phe489Val)
c.1273T>G (p.Phe425Val)
c.1164T>G
n.1039T>G
c.1423T>G (p.Phe475Val)
c.1251+2557T>G (n.1251+2557T>G)
c.1231T>G (p.Phe411Val)
c.1048T>G (p.Phe350Val)

Number of alleles fetched