Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51769292C>ACA384893704SCN8Ac.3329C>A (p.Thr1110Lys)
c.1176C>A
c.1393C>A
c.3362C>A (p.Thr1121Lys)
n.321C>A
12g.51769292C>GCA384893707SCN8Ac.3329C>G (p.Thr1110Arg)
c.1176C>G
c.1393C>G
c.3362C>G (p.Thr1121Arg)
n.321C>G
12g.51769292C>TCA384893711SCN8Ac.3329C>T (p.Thr1110Ile)
c.1176C>T
c.1393C>T
c.3362C>T (p.Thr1121Ile)
n.321C>T
12g.51769293A>CCA480061452SCN8Ac.3330A>C (p.Thr1110=)
c.1177A>C
c.1394A>C
c.3363A>C (p.Thr1121=)
n.322A>C
12g.51769293A>GCA480061453SCN8Ac.3330A>G (p.Thr1110=)
c.1177A>G
c.1394A>G
c.3363A>G (p.Thr1121=)
n.322A>G
 ClinVar gnomAD v4
12g.51769293A>TCA480061454SCN8Ac.3330A>T (p.Thr1110=)
c.1177A>T
c.1394A>T
c.3363A>T (p.Thr1121=)
n.322A>T
12g.51769294G>ACA384893714SCN8Ac.3331G>A (p.Glu1111Lys)
c.1178G>A
c.1395G>A
c.3364G>A (p.Glu1122Lys)
n.323G>A
12g.51769294G>CCA384893718SCN8Ac.3331G>C (p.Glu1111Gln)
c.1178G>C
c.1395G>C
c.3364G>C (p.Glu1122Gln)
n.323G>C
 ClinVar
12g.51769294G=CA2036188637SCN8Ac.3331G= (p.Glu1111=)
c.1178G=
c.1395G=
c.3364G= (p.Glu1122=)
n.323G=
12g.51769294G>TCA384893720SCN8Ac.3331G>T (p.Glu1111Ter)
c.1178G>T
c.1395G>T
c.3364G>T (p.Glu1122Ter)
n.323G>T
 dbSNP
12g.51769295A>CCA384893724SCN8Ac.3332A>C (p.Glu1111Ala)
c.1179A>C
c.1396A>C
c.3365A>C (p.Glu1122Ala)
n.324A>C
12g.51769295A>GCA384893725SCN8Ac.3332A>G (p.Glu1111Gly)
c.1179A>G
c.1396A>G
c.3365A>G (p.Glu1122Gly)
n.324A>G
12g.51769295A>TCA384893726SCN8Ac.3332A>T (p.Glu1111Val)
c.1179A>T
c.1396A>T
c.3365A>T (p.Glu1122Val)
n.324A>T
12g.51769296G>ACA480061455SCN8Ac.3333G>A (p.Glu1111=)
c.1180G>A
c.1397G>A
c.3366G>A (p.Glu1122=)
n.325G>A
12g.51769296G>CCA384893728SCN8Ac.3333G>C (p.Glu1111Asp)
c.1180G>C
c.1397G>C
c.3366G>C (p.Glu1122Asp)
n.325G>C
 dbSNP gnomAD v3 gnomAD v4
12g.51769296G=CA2036188640SCN8Ac.3333G= (p.Glu1111=)
c.1180G=
c.1397G=
c.3366G= (p.Glu1122=)
n.325G=
12g.51769296G>TCA384893730SCN8Ac.3333G>T (p.Glu1111Asp)
c.1180G>T
c.1397G>T
c.3366G>T (p.Glu1122Asp)
n.325G>T
12g.51769297G>ACA384893734SCN8Ac.3334G>A (p.Asp1112Asn)
c.1181G>A
c.1398G>A
c.3367G>A (p.Asp1123Asn)
n.326G>A
12g.51769297G>CCA384893742SCN8Ac.3334G>C (p.Asp1112His)
c.1181G>C
c.1398G>C
c.3367G>C (p.Asp1123His)
n.326G>C
12g.51769297G>TCA384893743SCN8Ac.3334G>T (p.Asp1112Tyr)
c.1181G>T
c.1398G>T
c.3367G>T (p.Asp1123Tyr)
n.326G>T
12g.51769298A=CA2036188644SCN8Ac.3335A= (p.Asp1112=)
c.1182A=
c.1399A=
c.3368A= (p.Asp1123=)
n.327A=
12g.51769298A>CCA384893746SCN8Ac.3335A>C (p.Asp1112Ala)
c.1182A>C
c.1399A>C
c.3368A>C (p.Asp1123Ala)
n.327A>C
12g.51769298A>GCA6571578SCN8Ac.3335A>G (p.Asp1112Gly)
c.1182A>G
c.1399A>G
c.3368A>G (p.Asp1123Gly)
n.327A>G
 dbSNP ExAC gnomAD v2
12g.51769298A>TCA384893751SCN8Ac.3335A>T (p.Asp1112Val)
c.1182A>T
c.1399A>T
c.3368A>T (p.Asp1123Val)
n.327A>T
12g.51769299T>ACA384893758SCN8Ac.3336T>A (p.Asp1112Glu)
c.1183T>A
c.1400T>A
c.3369T>A (p.Asp1123Glu)
n.328T>A
 ClinVar dbSNP gnomAD v4
12g.51769299T>CCA480061457SCN8Ac.3336T>C (p.Asp1112=)
c.1183T>C
c.1400T>C
c.3369T>C (p.Asp1123=)
n.328T>C
12g.51769299T>GCA384893760SCN8Ac.3336T>G (p.Asp1112Glu)
c.1183T>G
c.1400T>G
c.3369T>G (p.Asp1123Glu)
n.328T>G
12g.51769299T=CA2036188650SCN8Ac.3336T= (p.Asp1112=)
c.1183T=
c.1400T=
c.3369T= (p.Asp1123=)
n.328T=
12g.51769300G>ACA384893764SCN8Ac.3337G>A (p.Val1113Ile)
c.1184G>A
c.1401G>A
c.3370G>A (p.Val1124Ile)
n.329G>A
12g.51769300G>CCA384893766SCN8Ac.3337G>C (p.Val1113Leu)
c.1184G>C
c.1401G>C
c.3370G>C (p.Val1124Leu)
n.329G>C
12g.51769300G>TCA384893771SCN8Ac.3337G>T (p.Val1113Phe)
c.1184G>T
c.1401G>T
c.3370G>T (p.Val1124Phe)
n.329G>T
12g.51769301T>ACA384893776SCN8Ac.3338T>A (p.Val1113Asp)
c.1185T>A
c.1402T>A
c.3371T>A (p.Val1124Asp)
n.330T>A
12g.51769301T>CCA384893783SCN8Ac.3338T>C (p.Val1113Ala)
c.1185T>C
c.1402T>C
c.3371T>C (p.Val1124Ala)
n.330T>C
12g.51769301T>GCA384893786SCN8Ac.3338T>G (p.Val1113Gly)
c.1185T>G
c.1402T>G
c.3371T>G (p.Val1124Gly)
n.330T>G
12g.51769302T>ACA480061462SCN8Ac.3339T>A (p.Val1113=)
c.1186T>A
c.1403T>A
c.3372T>A (p.Val1124=)
n.331T>A
12g.51769302T>CCA480061463SCN8Ac.3339T>C (p.Val1113=)
c.1186T>C
c.1403T>C
c.3372T>C (p.Val1124=)
n.331T>C
 ClinVar dbSNP
12g.51769302T>GCA480061464SCN8Ac.3339T>G (p.Val1113=)
c.1186T>G
c.1403T>G
c.3372T>G (p.Val1124=)
n.331T>G
12g.51769303A>CCA384893795SCN8Ac.3340A>C (p.Ser1114Arg)
c.1187A>C
c.1404A>C
c.3373A>C (p.Ser1125Arg)
n.332A>C
12g.51769303A>GCA384893798SCN8Ac.3340A>G (p.Ser1114Gly)
c.1187A>G
c.1404A>G
c.3373A>G (p.Ser1125Gly)
n.332A>G
12g.51769303A>TCA384893790SCN8Ac.3340A>T (p.Ser1114Cys)
c.1187A>T
c.1404A>T
c.3373A>T (p.Ser1125Cys)
n.332A>T
12g.51769306_51769308delCA2575160198SCN8Ac.3343_3345del (p.Ser1115del)
c.1190_1192del
c.1407_1409del
c.3376_3378del (p.Ser1126del)
n.335_337del
12g.51769304G>ACA384893806SCN8Ac.3341G>A (p.Ser1114Asn)
c.1188G>A
c.1405G>A
c.3374G>A (p.Ser1125Asn)
n.333G>A
12g.51769304G>CCA384893801SCN8Ac.3341G>C (p.Ser1114Thr)
c.1188G>C
c.1405G>C
c.3374G>C (p.Ser1125Thr)
n.333G>C
12g.51769304G>TCA384893807SCN8Ac.3341G>T (p.Ser1114Ile)
c.1188G>T
c.1405G>T
c.3374G>T (p.Ser1125Ile)
n.333G>T
12g.51769305C>ACA384893811SCN8Ac.3342C>A (p.Ser1114Arg)
c.1189C>A
c.1406C>A
c.3375C>A (p.Ser1125Arg)
n.334C>A
12g.51769305C>GCA384893827SCN8Ac.3342C>G (p.Ser1114Arg)
c.1189C>G
c.1406C>G
c.3375C>G (p.Ser1125Arg)
n.334C>G
12g.51769305C>TCA480061471SCN8Ac.3342C>T (p.Ser1114=)
c.1189C>T
c.1406C>T
c.3375C>T (p.Ser1125=)
n.334C>T
12g.51769306A=CA2036188656SCN8Ac.3343A= (p.Ser1115=)
c.1190A=
c.1407A=
c.3376A= (p.Ser1126=)
n.335A=
12g.51769306A>CCA384893831SCN8Ac.3343A>C (p.Ser1115Arg)
c.1190A>C
c.1407A>C
c.3376A>C (p.Ser1126Arg)
n.335A>C
12g.51769306A>GCA384893834SCN8Ac.3343A>G (p.Ser1115Gly)
c.1190A>G
c.1407A>G
c.3376A>G (p.Ser1126Gly)
n.335A>G
 dbSNP gnomAD v4
12g.51769306A>TCA384893836SCN8Ac.3343A>T (p.Ser1115Cys)
c.1190A>T
c.1407A>T
c.3376A>T (p.Ser1126Cys)
n.335A>T
12g.51769307G>ACA384893839SCN8Ac.3344G>A (p.Ser1115Asn)
c.1191G>A
c.1408G>A
c.3377G>A (p.Ser1126Asn)
n.336G>A
 gnomAD v4
12g.51769307G>CCA384893840SCN8Ac.3344G>C (p.Ser1115Thr)
c.1191G>C
c.1408G>C
c.3377G>C (p.Ser1126Thr)
n.336G>C
12g.51769307G>TCA384893841SCN8Ac.3344G>T (p.Ser1115Ile)
c.1191G>T
c.1408G>T
c.3377G>T (p.Ser1126Ile)
n.336G>T
12g.51769308C>ACA384893843SCN8Ac.3345C>A (p.Ser1115Arg)
c.1192C>A
c.1409C>A
c.3378C>A (p.Ser1126Arg)
n.337C>A
 gnomAD v4
12g.51769308C=CA2036188666SCN8Ac.3345C= (p.Ser1115=)
c.1192C=
c.1409C=
c.3378C= (p.Ser1126=)
n.337C=
12g.51769308C>GCA384893845SCN8Ac.3345C>G (p.Ser1115Arg)
c.1192C>G
c.1409C>G
c.3378C>G (p.Ser1126Arg)
n.337C>G
12g.51769308C>TCA6571579SCN8Ac.3345C>T (p.Ser1115=)
c.1192C>T
c.1409C>T
c.3378C>T (p.Ser1126=)
n.337C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769309G>ACA384893855SCN8Ac.3346G>A (p.Glu1116Lys)
c.1193G>A
c.1410G>A
c.3379G>A (p.Glu1127Lys)
n.338G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51769309G>CCA384893854SCN8Ac.3346G>C (p.Glu1116Gln)
c.1193G>C
c.1410G>C
c.3379G>C (p.Glu1127Gln)
n.338G>C
 gnomAD v4
12g.51769309G=CA2036188676SCN8Ac.3346G= (p.Glu1116=)
c.1193G=
c.1410G=
c.3379G= (p.Glu1127=)
n.338G=
12g.51769309G>TCA384893853SCN8Ac.3346G>T (p.Glu1116Ter)
c.1193G>T
c.1410G>T
c.3379G>T (p.Glu1127Ter)
n.338G>T
 dbSNP gnomAD v4
12g.51769310A>CCA384893859SCN8Ac.3347A>C (p.Glu1116Ala)
c.1194A>C
c.1411A>C
c.3380A>C (p.Glu1127Ala)
n.339A>C
12g.51769310A>GCA384893864SCN8Ac.3347A>G (p.Glu1116Gly)
c.1194A>G
c.1411A>G
c.3380A>G (p.Glu1127Gly)
n.339A>G
12g.51769310A>TCA384893865SCN8Ac.3347A>T (p.Glu1116Val)
c.1194A>T
c.1411A>T
c.3380A>T (p.Glu1127Val)
n.339A>T
12g.51769311G>ACA480061482SCN8Ac.3348G>A (p.Glu1116=)
c.1195G>A
c.1412G>A
c.3381G>A (p.Glu1127=)
n.340G>A
12g.51769311G>CCA384893873SCN8Ac.3348G>C (p.Glu1116Asp)
c.1195G>C
c.1412G>C
c.3381G>C (p.Glu1127Asp)
n.340G>C
12g.51769311G>TCA384893875SCN8Ac.3348G>T (p.Glu1116Asp)
c.1195G>T
c.1412G>T
c.3381G>T (p.Glu1127Asp)
n.340G>T
12g.51769312T>ACA384893876SCN8Ac.3349T>A (p.Ser1117Thr)
c.1196T>A
c.1413T>A
c.3382T>A (p.Ser1128Thr)
n.341T>A
12g.51769312T>CCA384893879SCN8Ac.3349T>C (p.Ser1117Pro)
c.1196T>C
c.1413T>C
c.3382T>C (p.Ser1128Pro)
n.341T>C
12g.51769312T>GCA384893884SCN8Ac.3349T>G (p.Ser1117Ala)
c.1196T>G
c.1413T>G
c.3382T>G (p.Ser1128Ala)
n.341T>G
12g.51769313C>ACA384893891SCN8Ac.3350C>A (p.Ser1117Ter)
c.1197C>A
c.1414C>A
c.3383C>A (p.Ser1128Ter)
n.342C>A
 dbSNP gnomAD v4
12g.51769313C=CA2036188686SCN8Ac.3350C= (p.Ser1117=)
c.1197C=
c.1414C=
c.3383C= (p.Ser1128=)
n.342C=
12g.51769313C>GCA384893894SCN8Ac.3350C>G (p.Ser1117Trp)
c.1197C>G
c.1414C>G
c.3383C>G (p.Ser1128Trp)
n.342C>G
12g.51769313C>TCA6571580SCN8Ac.3350C>T (p.Ser1117Leu)
c.1197C>T
c.1414C>T
c.3383C>T (p.Ser1128Leu)
n.342C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51769314G>ACA6571581SCN8Ac.3351G>A (p.Ser1117=)
c.1198G>A
c.1415G>A
c.3384G>A (p.Ser1128=)
n.343G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769314G>CCA480061488SCN8Ac.3351G>C (p.Ser1117=)
c.1198G>C
c.1415G>C
c.3384G>C (p.Ser1128=)
n.343G>C
12g.51769314G=CA2036188697SCN8Ac.3351G= (p.Ser1117=)
c.1198G=
c.1415G=
c.3384G= (p.Ser1128=)
n.343G=
12g.51769314G>TCA480061489SCN8Ac.3351G>T (p.Ser1117=)
c.1198G>T
c.1415G>T
c.3384G>T (p.Ser1128=)
n.343G>T
 COSMIC COSMIC
12g.51769315G>ACA384893906SCN8Ac.3352G>A (p.Asp1118Asn)
c.1199G>A
c.1416G>A
c.3385G>A (p.Asp1129Asn)
n.344G>A
12g.51769315G>CCA384893905SCN8Ac.3352G>C (p.Asp1118His)
c.1199G>C
c.1416G>C
c.3385G>C (p.Asp1129His)
n.344G>C
12g.51769315G=CA2036188701SCN8Ac.3352G= (p.Asp1118=)
c.1199G=
c.1416G=
c.3385G= (p.Asp1129=)
n.344G=
12g.51769315G>TCA384893904SCN8Ac.3352G>T (p.Asp1118Tyr)
c.1199G>T
c.1416G>T
c.3385G>T (p.Asp1129Tyr)
n.344G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51769316A>CCA384893908SCN8Ac.3353A>C (p.Asp1118Ala)
c.1200A>C
c.1417A>C
c.3386A>C (p.Asp1129Ala)
n.345A>C
12g.51769316A>GCA384893910SCN8Ac.3353A>G (p.Asp1118Gly)
c.1200A>G
c.1417A>G
c.3386A>G (p.Asp1129Gly)
n.345A>G
12g.51769316A>TCA384893915SCN8Ac.3353A>T (p.Asp1118Val)
c.1200A>T
c.1417A>T
c.3386A>T (p.Asp1129Val)
n.345A>T
12g.51769317T>ACA384893921SCN8Ac.3354T>A (p.Asp1118Glu)
c.1201T>A
c.1418T>A
c.3387T>A (p.Asp1129Glu)
n.346T>A
12g.51769317T>CCA480061492SCN8Ac.3354T>C (p.Asp1118=)
c.1201T>C
c.1418T>C
c.3387T>C (p.Asp1129=)
n.346T>C
12g.51769317T>GCA384893924SCN8Ac.3354T>G (p.Asp1118Glu)
c.1201T>G
c.1418T>G
c.3387T>G (p.Asp1129Glu)
n.346T>G
12g.51769318C>ACA384893933SCN8Ac.3355C>A (p.Pro1119Thr)
c.1202C>A
c.1419C>A
c.3388C>A (p.Pro1130Thr)
n.347C>A
12g.51769318C>GCA384893929SCN8Ac.3355C>G (p.Pro1119Ala)
c.1202C>G
c.1419C>G
c.3388C>G (p.Pro1130Ala)
n.347C>G
12g.51769318C>TCA384893927SCN8Ac.3355C>T (p.Pro1119Ser)
c.1202C>T
c.1419C>T
c.3388C>T (p.Pro1130Ser)
n.347C>T
12g.51769319C>ACA384893934SCN8Ac.3356C>A (p.Pro1119His)
c.1203C>A
c.1420C>A
c.3389C>A (p.Pro1130His)
n.348C>A
12g.51769319C=CA2036188706SCN8Ac.3356C= (p.Pro1119=)
c.1203C=
c.1420C=
c.3389C= (p.Pro1130=)
n.348C=
12g.51769319C>GCA384893936SCN8Ac.3356C>G (p.Pro1119Arg)
c.1203C>G
c.1420C>G
c.3389C>G (p.Pro1130Arg)
n.348C>G
12g.51769319C>TCA318262SCN8Ac.3356C>T (p.Pro1119Leu)
c.1203C>T
c.1420C>T
c.3389C>T (p.Pro1130Leu)
n.348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769320T>ACA480061497SCN8Ac.3357T>A (p.Pro1119=)
c.1204T>A
c.1421T>A
c.3390T>A (p.Pro1130=)
n.349T>A
12g.51769320T>CCA480061498SCN8Ac.3357T>C (p.Pro1119=)
c.1204T>C
c.1421T>C
c.3390T>C (p.Pro1130=)
n.349T>C
12g.51769320T>GCA480061499SCN8Ac.3357T>G (p.Pro1119=)
c.1204T>G
c.1421T>G
c.3390T>G (p.Pro1130=)
n.349T>G
12g.51769321G>ACA384893940SCN8Ac.3358G>A (p.Glu1120Lys)
c.1205G>A
c.1422G>A
c.3391G>A (p.Glu1131Lys)
n.350G>A
 gnomAD v4
12g.51769321G>CCA384893941SCN8Ac.3358G>C (p.Glu1120Gln)
c.1205G>C
c.1422G>C
c.3391G>C (p.Glu1131Gln)
n.350G>C
12g.51769321G=CA2036188712SCN8Ac.3358G= (p.Glu1120=)
c.1205G=
c.1422G=
c.3391G= (p.Glu1131=)
n.350G=
12g.51769321G>TCA384893942SCN8Ac.3358G>T (p.Glu1120Ter)
c.1205G>T
c.1422G>T
c.3391G>T (p.Glu1131Ter)
n.350G>T
 dbSNP
12g.51769322A>CCA384893943SCN8Ac.3359A>C (p.Glu1120Ala)
c.1206A>C
c.1423A>C
c.3392A>C (p.Glu1131Ala)
n.351A>C
12g.51769322A>GCA384893946SCN8Ac.3359A>G (p.Glu1120Gly)
c.1206A>G
c.1423A>G
c.3392A>G (p.Glu1131Gly)
n.351A>G
12g.51769322A>TCA384893945SCN8Ac.3359A>T (p.Glu1120Val)
c.1206A>T
c.1423A>T
c.3392A>T (p.Glu1131Val)
n.351A>T
12g.51769323A>CCA384893947SCN8Ac.3360A>C (p.Glu1120Asp)
c.1207A>C
c.1424A>C
c.3393A>C (p.Glu1131Asp)
n.352A>C
12g.51769323A>GCA480061504SCN8Ac.3360A>G (p.Glu1120=)
c.1207A>G
c.1424A>G
c.3393A>G (p.Glu1131=)
n.352A>G
12g.51769323A>TCA384893950SCN8Ac.3360A>T (p.Glu1120Asp)
c.1207A>T
c.1424A>T
c.3393A>T (p.Glu1131Asp)
n.352A>T
12g.51769324G>ACA384893957SCN8Ac.3361G>A (p.Gly1121Ser)
c.1208G>A
c.1425G>A
c.3394G>A (p.Gly1132Ser)
n.353G>A
12g.51769324G>CCA384893958SCN8Ac.3361G>C (p.Gly1121Arg)
c.1208G>C
c.1425G>C
c.3394G>C (p.Gly1132Arg)
n.353G>C
12g.51769324G>TCA384893959SCN8Ac.3361G>T (p.Gly1121Cys)
c.1208G>T
c.1425G>T
c.3394G>T (p.Gly1132Cys)
n.353G>T
12g.51769325G>ACA384893962SCN8Ac.3362G>A (p.Gly1121Asp)
c.1209G>A
c.1426G>A
c.3395G>A (p.Gly1132Asp)
n.354G>A
12g.51769325G>CCA384893982SCN8Ac.3362G>C (p.Gly1121Ala)
c.1209G>C
c.1426G>C
c.3395G>C (p.Gly1132Ala)
n.354G>C
12g.51769325G>TCA384893985SCN8Ac.3362G>T (p.Gly1121Val)
c.1209G>T
c.1426G>T
c.3395G>T (p.Gly1132Val)
n.354G>T
12g.51769326C>ACA480061510SCN8Ac.3363C>A (p.Gly1121=)
c.1210C>A
c.1427C>A
c.3396C>A (p.Gly1132=)
n.355C>A
 gnomAD v4
12g.51769326C>GCA480061508SCN8Ac.3363C>G (p.Gly1121=)
c.1210C>G
c.1427C>G
c.3396C>G (p.Gly1132=)
n.355C>G
12g.51769326C>TCA480061509SCN8Ac.3363C>T (p.Gly1121=)
c.1210C>T
c.1427C>T
c.3396C>T (p.Gly1132=)
n.355C>T
 gnomAD v4
12g.51769327A=CA2036188718SCN8Ac.3364A= (p.Ser1122=)
c.1211A=
c.1428A=
c.3397A= (p.Ser1133=)
n.356A=
12g.51769327A>CCA384893989SCN8Ac.3364A>C (p.Ser1122Arg)
c.1211A>C
c.1428A>C
c.3397A>C (p.Ser1133Arg)
n.356A>C
12g.51769327A>GCA384893991SCN8Ac.3364A>G (p.Ser1122Gly)
c.1211A>G
c.1428A>G
c.3397A>G (p.Ser1133Gly)
n.356A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769327A>TCA6571582SCN8Ac.3364A>T (p.Ser1122Cys)
c.1211A>T
c.1428A>T
c.3397A>T (p.Ser1133Cys)
n.356A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769328G>ACA384894000SCN8Ac.3365G>A (p.Ser1122Asn)
c.1212G>A
c.1429G>A
c.3398G>A (p.Ser1133Asn)
n.357G>A
 gnomAD v4
12g.51769328G>CCA384894005SCN8Ac.3365G>C (p.Ser1122Thr)
c.1212G>C
c.1429G>C
c.3398G>C (p.Ser1133Thr)
n.357G>C
12g.51769328G>TCA384893998SCN8Ac.3365G>T (p.Ser1122Ile)
c.1212G>T
c.1429G>T
c.3398G>T (p.Ser1133Ile)
n.357G>T
12g.51769329C>ACA384894016SCN8Ac.3366C>A (p.Ser1122Arg)
c.1213C>A
c.1430C>A
c.3399C>A (p.Ser1133Arg)
n.358C>A
12g.51769329C=CA2036188725SCN8Ac.3366C= (p.Ser1122=)
c.1213C=
c.1430C=
c.3399C= (p.Ser1133=)
n.358C=
12g.51769329C>GCA384894008SCN8Ac.3366C>G (p.Ser1122Arg)
c.1213C>G
c.1430C>G
c.3399C>G (p.Ser1133Arg)
n.358C>G
12g.51769329C>TCA6571583SCN8Ac.3366C>T (p.Ser1122=)
c.1213C>T
c.1430C>T
c.3399C>T (p.Ser1133=)
n.358C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769330A=CA2036188728SCN8Ac.3367A= (p.Lys1123=)
c.1214A=
c.1431A=
c.3400A= (p.Lys1134=)
n.359A=
12g.51769330A>CCA384894017SCN8Ac.3367A>C (p.Lys1123Gln)
c.1214A>C
c.1431A>C
c.3400A>C (p.Lys1134Gln)
n.359A>C
 ClinVar dbSNP
12g.51769330A>GCA384894018SCN8Ac.3367A>G (p.Lys1123Glu)
c.1214A>G
c.1431A>G
c.3400A>G (p.Lys1134Glu)
n.359A>G
 gnomAD v4
12g.51769330A>TCA384894019SCN8Ac.3367A>T (p.Lys1123Ter)
c.1214A>T
c.1431A>T
c.3400A>T (p.Lys1134Ter)
n.359A>T
 dbSNP
12g.51769331A=CA2036188734SCN8Ac.3368A= (p.Lys1123=)
c.1215A=
c.1432A=
c.3401A= (p.Lys1134=)
n.360A=
12g.51769331A>CCA384894021SCN8Ac.3368A>C (p.Lys1123Thr)
c.1215A>C
c.1432A>C
c.3401A>C (p.Lys1134Thr)
n.360A>C
12g.51769331A>GCA384894023SCN8Ac.3368A>G (p.Lys1123Arg)
c.1215A>G
c.1432A>G
c.3401A>G (p.Lys1134Arg)
n.360A>G
 dbSNP gnomAD v3 gnomAD v4
12g.51769331A>TCA384894025SCN8Ac.3368A>T (p.Lys1123Ile)
c.1215A>T
c.1432A>T
c.3401A>T (p.Lys1134Ile)
n.360A>T
12g.51769332A>CCA384894032SCN8Ac.3369A>C (p.Lys1123Asn)
c.1216A>C
c.1433A>C
c.3402A>C (p.Lys1134Asn)
n.361A>C
12g.51769332A>GCA480061205SCN8Ac.3369A>G (p.Lys1123=)
c.1216A>G
c.1433A>G
c.3402A>G (p.Lys1134=)
n.361A>G
 gnomAD v4
12g.51769332A>TCA384894034SCN8Ac.3369A>T (p.Lys1123Asn)
c.1216A>T
c.1433A>T
c.3402A>T (p.Lys1134Asn)
n.361A>T
 gnomAD v4
12g.51769333G>ACA384894038SCN8Ac.3370G>A (p.Asp1124Asn)
c.1217G>A
c.1434G>A
c.3403G>A (p.Asp1135Asn)
n.362G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769333G>CCA384894043SCN8Ac.3370G>C (p.Asp1124His)
c.1217G>C
c.1434G>C
c.3403G>C (p.Asp1135His)
n.362G>C
12g.51769333G=CA2036188739SCN8Ac.3370G= (p.Asp1124=)
c.1217G=
c.1434G=
c.3403G= (p.Asp1135=)
n.362G=
12g.51769333G>TCA384894046SCN8Ac.3370G>T (p.Asp1124Tyr)
c.1217G>T
c.1434G>T
c.3403G>T (p.Asp1135Tyr)
n.362G>T
12g.51769334A>CCA384894054SCN8Ac.3371A>C (p.Asp1124Ala)
c.1218A>C
c.1435A>C
c.3404A>C (p.Asp1135Ala)
n.363A>C
12g.51769334A>GCA384894062SCN8Ac.3371A>G (p.Asp1124Gly)
c.1218A>G
c.1435A>G
c.3404A>G (p.Asp1135Gly)
n.363A>G
12g.51769334A>TCA384894051SCN8Ac.3371A>T (p.Asp1124Val)
c.1218A>T
c.1435A>T
c.3404A>T (p.Asp1135Val)
n.363A>T
12g.51769335T>ACA384894065SCN8Ac.3372T>A (p.Asp1124Glu)
c.1219T>A
c.1436T>A
c.3405T>A (p.Asp1135Glu)
n.364T>A
12g.51769335T>CCA480061206SCN8Ac.3372T>C (p.Asp1124=)
c.1219T>C
c.1436T>C
c.3405T>C (p.Asp1135=)
n.364T>C
12g.51769335T>GCA6571584SCN8Ac.3372T>G (p.Asp1124Glu)
c.1219T>G
c.1436T>G
c.3405T>G (p.Asp1135Glu)
n.364T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769335T=CA2036188742SCN8Ac.3372T= (p.Asp1124=)
c.1219T=
c.1436T=
c.3405T= (p.Asp1135=)
n.364T=
12g.51769336G>ACA384894077SCN8Ac.3372+1G>A (n.3372+1G>A)
c.1219+1G>A
c.1436+1G>A
c.3405+1G>A (n.3405+1G>A)
n.364+1G>A
12g.51769336G>CCA384894081SCN8Ac.3372+1G>C (n.3372+1G>C)
c.1219+1G>C
c.1436+1G>C
c.3405+1G>C (n.3405+1G>C)
n.364+1G>C
12g.51769336G>TCA384894084SCN8Ac.3372+1G>T (n.3372+1G>T)
c.1219+1G>T
c.1436+1G>T
c.3405+1G>T (n.3405+1G>T)
n.364+1G>T
12g.51769337T>ACA384894091SCN8Ac.3372+2T>A (n.3372+2T>A)
c.1219+2T>A
c.1436+2T>A
c.3405+2T>A (n.3405+2T>A)
n.364+2T>A
12g.51769337T>CCA384894087SCN8Ac.3372+2T>C (n.3372+2T>C)
c.1219+2T>C
c.1436+2T>C
c.3405+2T>C (n.3405+2T>C)
n.364+2T>C
12g.51769337T>GCA384894090SCN8Ac.3372+2T>G (n.3372+2T>G)
c.1219+2T>G
c.1436+2T>G
c.3405+2T>G (n.3405+2T>G)
n.364+2T>G
12g.51769339A>GCA2618840787SCN8Ac.3372+4A>G (n.3372+4A>G)
c.1219+4A>G
c.1436+4A>G
c.3405+4A>G (n.3405+4A>G)
n.364+4A>G
 gnomAD v4
12g.51769341G=CA2036188746SCN8Ac.3372+6G= (n.3372+6G=)
c.1219+6G=
c.1436+6G=
c.3405+6G= (n.3405+6G=)
n.364+6G=
12g.51769341G>TCA2036188747SCN8Ac.3372+6G>T (n.3372+6G>T)
c.1219+6G>T
c.1436+6G>T
c.3405+6G>T (n.3405+6G>T)
n.364+6G>T
 ClinVar dbSNP gnomAD v4
12g.51769342T>CCA2575160199SCN8Ac.3372+7T>C (n.3372+7T>C)
c.1219+7T>C
c.1436+7T>C
c.3405+7T>C (n.3405+7T>C)
n.364+7T>C
12g.51769343C>GCA2618840788SCN8Ac.3372+8C>G (n.3372+8C>G)
c.1219+8C>G
c.1436+8C>G
c.3405+8C>G (n.3405+8C>G)
n.364+8C>G
 gnomAD v4
12g.51769345delCA2575160200SCN8Ac.3372+10del (n.3372+10del)
c.1219+10del
c.1436+10del
c.3405+10del (n.3405+10del)
n.364+10del
12g.51769344C>ACA2575160201SCN8Ac.3372+9C>A (n.3372+9C>A)
c.1219+9C>A
c.1436+9C>A
c.3405+9C>A (n.3405+9C>A)
n.364+9C>A
 gnomAD v4
12g.51769345C>ACA2575160202SCN8Ac.3372+10C>A (n.3372+10C>A)
c.1219+10C>A
c.1436+10C>A
c.3405+10C>A (n.3405+10C>A)
n.364+10C>A
 gnomAD v4
12g.51769347G>ACA605238552SCN8Ac.3372+12G>A (n.3372+12G>A)
c.1219+12G>A
c.1436+12G>A
c.3405+12G>A (n.3405+12G>A)
n.364+12G>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769347G=CA2036188751SCN8Ac.3372+12G= (n.3372+12G=)
c.1219+12G=
c.1436+12G=
c.3405+12G= (n.3405+12G=)
n.364+12G=
12g.51769347G>TCA2618840791SCN8Ac.3372+12G>T (n.3372+12G>T)
c.1219+12G>T
c.1436+12G>T
c.3405+12G>T (n.3405+12G>T)
n.364+12G>T
 gnomAD v4
12g.51769348C=CA2036188754SCN8Ac.3372+13C= (n.3372+13C=)
c.1219+13C=
c.1436+13C=
c.3405+13C= (n.3405+13C=)
n.364+13C=
12g.51769348C>GCA236318738SCN8Ac.3372+13C>G (n.3372+13C>G)
c.1219+13C>G
c.1436+13C>G
c.3405+13C>G (n.3405+13C>G)
n.364+13C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769348C>TCA236318736SCN8Ac.3372+13C>T (n.3372+13C>T)
c.1219+13C>T
c.1436+13C>T
c.3405+13C>T (n.3405+13C>T)
n.364+13C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51769349C>ACA2618840800SCN8Ac.3372+14C>A (n.3372+14C>A)
c.1219+14C>A
c.1436+14C>A
c.3405+14C>A (n.3405+14C>A)
n.364+14C>A
 gnomAD v4
12g.51769351A=CA2036188762SCN8Ac.3372+16A= (n.3372+16A=)
c.1219+16A=
c.1436+16A=
c.3405+16A= (n.3405+16A=)
n.364+16A=
12g.51769351A>GCA6571585SCN8Ac.3372+16A>G (n.3372+16A>G)
c.1219+16A>G
c.1436+16A>G
c.3405+16A>G (n.3405+16A>G)
n.364+16A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769352G>ACA605238553SCN8Ac.3372+17G>A (n.3372+17G>A)
c.1219+17G>A
c.1436+17G>A
c.3405+17G>A (n.3405+17G>A)
n.364+17G>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769352G>CCA2618840804SCN8Ac.3372+17G>C (n.3372+17G>C)
c.1219+17G>C
c.1436+17G>C
c.3405+17G>C (n.3405+17G>C)
n.364+17G>C
 gnomAD v4
12g.51769352G=CA2036188766SCN8Ac.3372+17G= (n.3372+17G=)
c.1219+17G=
c.1436+17G=
c.3405+17G= (n.3405+17G=)
n.364+17G=
12g.51769356C>ACA2618840809SCN8Ac.3372+21C>A (n.3372+21C>A)
c.1219+21C>A
c.1436+21C>A
c.3405+21C>A (n.3405+21C>A)
n.364+21C>A
 gnomAD v4
12g.51769356C=CA2036188769SCN8Ac.3372+21C= (n.3372+21C=)
c.1219+21C=
c.1436+21C=
c.3405+21C= (n.3405+21C=)
n.364+21C=
12g.51769356C>TCA947682204SCN8Ac.3372+21C>T (n.3372+21C>T)
c.1219+21C>T
c.1436+21C>T
c.3405+21C>T (n.3405+21C>T)
n.364+21C>T
 dbSNP gnomAD v3 gnomAD v4
12g.51769357A>GCA2618840814SCN8Ac.3372+22A>G (n.3372+22A>G)
c.1219+22A>G
c.1436+22A>G
c.3405+22A>G (n.3405+22A>G)
n.364+22A>G
 gnomAD v4
12g.51769358G>ACA2618840816SCN8Ac.3372+23G>A (n.3372+23G>A)
c.1219+23G>A
c.1436+23G>A
c.3405+23G>A (n.3405+23G>A)
n.364+23G>A
 gnomAD v4
12g.51769358G>TCA2618840817SCN8Ac.3372+23G>T (n.3372+23G>T)
c.1219+23G>T
c.1436+23G>T
c.3405+23G>T (n.3405+23G>T)
n.364+23G>T
 gnomAD v4
12g.51769359C>ACA2618840824SCN8Ac.3372+24C>A (n.3372+24C>A)
c.1219+24C>A
c.1436+24C>A
c.3405+24C>A (n.3405+24C>A)
n.364+24C>A
 gnomAD v4
12g.51769359C=CA2036188771SCN8Ac.3372+24C= (n.3372+24C=)
c.1219+24C=
c.1436+24C=
c.3405+24C= (n.3405+24C=)
n.364+24C=
12g.51769359C>TCA6571586SCN8Ac.3372+24C>T (n.3372+24C>T)
c.1219+24C>T
c.1436+24C>T
c.3405+24C>T (n.3405+24C>T)
n.364+24C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769360C>ACA2618840831SCN8Ac.3372+25C>A (n.3372+25C>A)
c.1219+25C>A
c.1436+25C>A
c.3405+25C>A (n.3405+25C>A)
n.364+25C>A
 gnomAD v4
12g.51769360C=CA2036188775SCN8Ac.3372+25C= (n.3372+25C=)
c.1219+25C=
c.1436+25C=
c.3405+25C= (n.3405+25C=)
n.364+25C=
12g.51769360C>GCA6571587SCN8Ac.3372+25C>G (n.3372+25C>G)
c.1219+25C>G
c.1436+25C>G
c.3405+25C>G (n.3405+25C>G)
n.364+25C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769361T>CCA6571588SCN8Ac.3372+26T>C (n.3372+26T>C)
c.1219+26T>C
c.1436+26T>C
c.3405+26T>C (n.3405+26T>C)
n.364+26T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769361T=CA2036188779SCN8Ac.3372+26T= (n.3372+26T=)
c.1219+26T=
c.1436+26T=
c.3405+26T= (n.3405+26T=)
n.364+26T=
12g.51769363delCA2618840835SCN8Ac.3372+28del (n.3372+28del)
c.1219+28del
c.1436+28del
c.3405+28del (n.3405+28del)
n.364+28del
 gnomAD v4
12g.51769364A=CA2036188783SCN8Ac.3372+29A= (n.3372+29A=)
c.1219+29A=
c.1436+29A=
c.3405+29A= (n.3405+29A=)
n.364+29A=
12g.51769364A>GCA605238554SCN8Ac.3372+29A>G (n.3372+29A>G)
c.1219+29A>G
c.1436+29A>G
c.3405+29A>G (n.3405+29A>G)
n.364+29A>G
 dbSNP gnomAD v2 gnomAD v4
12g.51769365T>ACA605238555SCN8Ac.3372+30T>A (n.3372+30T>A)
c.1219+30T>A
c.1436+30T>A
c.3405+30T>A (n.3405+30T>A)
n.364+30T>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769365T=CA2036188787SCN8Ac.3372+30T= (n.3372+30T=)
c.1219+30T=
c.1436+30T=
c.3405+30T= (n.3405+30T=)
n.364+30T=
12g.51769366C>ACA2575160203SCN8Ac.3372+31C>A (n.3372+31C>A)
c.1219+31C>A
c.1436+31C>A
c.3405+31C>A (n.3405+31C>A)
n.364+31C>A
 gnomAD v4
12g.51769367C>ACA2618840842SCN8Ac.3372+32C>A (n.3372+32C>A)
c.1219+32C>A
c.1436+32C>A
c.3405+32C>A (n.3405+32C>A)
n.364+32C>A
 gnomAD v4
12g.51769367C>TCA2575160204SCN8Ac.3372+32C>T (n.3372+32C>T)
c.1219+32C>T
c.1436+32C>T
c.3405+32C>T (n.3405+32C>T)
n.364+32C>T
12g.51769368T>CCA689783212SCN8Ac.3372+33T>C (n.3372+33T>C)
c.1219+33T>C
c.1436+33T>C
c.3405+33T>C (n.3405+33T>C)
n.364+33T>C
 dbSNP gnomAD v4
12g.51769368T=CA2036188789SCN8Ac.3372+33T= (n.3372+33T=)
c.1219+33T=
c.1436+33T=
c.3405+33T= (n.3405+33T=)
n.364+33T=
12g.51769372_51769373delCA2575160205SCN8Ac.3372+37_3372+38del (n.3372+37_3372+38del)
c.1219+37_1219+38del
c.1436+37_1436+38del
c.3405+37_3405+38del (n.3405+37_3405+38del)
n.364+37_364+38del
12g.51769369G>ACA6571589SCN8Ac.3372+34G>A (n.3372+34G>A)
c.1219+34G>A
c.1436+34G>A
c.3405+34G>A (n.3405+34G>A)
n.364+34G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769369G=CA2036188792SCN8Ac.3372+34G= (n.3372+34G=)
c.1219+34G=
c.1436+34G=
c.3405+34G= (n.3405+34G=)
n.364+34G=
12g.51769370T>CCA2726341399SCN8Ac.3372+35T>C (n.3372+35T>C)
c.1219+35T>C
c.1436+35T>C
c.3405+35T>C (n.3405+35T>C)
n.364+35T>C
 dbSNP
12g.51769371G>ACA2618840863SCN8Ac.3372+36G>A (n.3372+36G>A)
c.1219+36G>A
c.1436+36G>A
c.3405+36G>A (n.3405+36G>A)
n.364+36G>A
 gnomAD v4
12g.51769371G>TCA2618840864SCN8Ac.3372+36G>T (n.3372+36G>T)
c.1219+36G>T
c.1436+36G>T
c.3405+36G>T (n.3405+36G>T)
n.364+36G>T
 gnomAD v4
12g.51769373G>ACA605238556SCN8Ac.3372+38G>A (n.3372+38G>A)
c.1219+38G>A
c.1436+38G>A
c.3405+38G>A (n.3405+38G>A)
n.364+38G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51769373G=CA2036188795SCN8Ac.3372+38G= (n.3372+38G=)
c.1219+38G=
c.1436+38G=
c.3405+38G= (n.3405+38G=)
n.364+38G=
12g.51769374_51769377delCA2618840869SCN8Ac.3372+39_3372+42del (n.3372+39_3372+42del)
c.1219+39_1219+42del
c.1436+39_1436+42del
c.3405+39_3405+42del (n.3405+39_3405+42del)
n.364+39_364+42del
 gnomAD v4
12g.51769373_51769374insCTCTCCA2618840874SCN8Ac.3372+38_3372+39insCTCTC (n.3372+38_3372+39insCTCTC)
c.1219+38_1219+39insCTCTC
c.1436+38_1436+39insCTCTC
c.3405+38_3405+39insCTCTC (n.3405+38_3405+39insCTCTC)
n.364+38_364+39insCTCTC
 gnomAD v4
12g.51769374A>GCA2618840876SCN8Ac.3372+39A>G (n.3372+39A>G)
c.1219+39A>G
c.1436+39A>G
c.3405+39A>G (n.3405+39A>G)
n.364+39A>G
 gnomAD v4
12g.51769374_51769375insCACAGCA2618840885SCN8Ac.3372+39_3372+40insCACAG (n.3372+39_3372+40insCACAG)
c.1219+39_1219+40insCACAG
c.1436+39_1436+40insCACAG
c.3405+39_3405+40insCACAG (n.3405+39_3405+40insCACAG)
n.364+39_364+40insCACAG
 gnomAD v4
12g.51769375G>ACA2575160206SCN8Ac.3372+40G>A (n.3372+40G>A)
c.1219+40G>A
c.1436+40G>A
c.3405+40G>A (n.3405+40G>A)
n.364+40G>A
12g.51769375G>CCA2618840879SCN8Ac.3372+40G>C (n.3372+40G>C)
c.1219+40G>C
c.1436+40G>C
c.3405+40G>C (n.3405+40G>C)
n.364+40G>C
 gnomAD v4
12g.51769375G>TCA2618840881SCN8Ac.3372+40G>T (n.3372+40G>T)
c.1219+40G>T
c.1436+40G>T
c.3405+40G>T (n.3405+40G>T)
n.364+40G>T
 gnomAD v4
12g.51769376A=CA2036188798SCN8Ac.3372+41A= (n.3372+41A=)
c.1219+41A=
c.1436+41A=
c.3405+41A= (n.3405+41A=)
n.364+41A=
12g.51769376A>GCA6571590SCN8Ac.3372+41A>G (n.3372+41A>G)
c.1219+41A>G
c.1436+41A>G
c.3405+41A>G (n.3405+41A>G)
n.364+41A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769377G>ACA2575160207SCN8Ac.3372+42G>A (n.3372+42G>A)
c.1219+42G>A
c.1436+42G>A
c.3405+42G>A (n.3405+42G>A)
n.364+42G>A
 gnomAD v4
12g.51769377G>TCA2618840890SCN8Ac.3372+42G>T (n.3372+42G>T)
c.1219+42G>T
c.1436+42G>T
c.3405+42G>T (n.3405+42G>T)
n.364+42G>T
 gnomAD v4
12g.51769378C>ACA2575160208SCN8Ac.3372+43C>A (n.3372+43C>A)
c.1219+43C>A
c.1436+43C>A
c.3405+43C>A (n.3405+43C>A)
n.364+43C>A
 gnomAD v4
12g.51769378_51769379insTCTCCA2618840893SCN8Ac.3372+43_3372+44insTCTC (n.3372+43_3372+44insTCTC)
c.1219+43_1219+44insTCTC
c.1436+43_1436+44insTCTC
c.3405+43_3405+44insTCTC (n.3405+43_3405+44insTCTC)
n.364+43_364+44insTCTC
 gnomAD v4
12g.51769379A>CCA2618840897SCN8Ac.3372+44A>C (n.3372+44A>C)
c.1219+44A>C
c.1436+44A>C
c.3405+44A>C (n.3405+44A>C)
n.364+44A>C
 gnomAD v4
12g.51769379A>GCA2618840901SCN8Ac.3372+44A>G (n.3372+44A>G)
c.1219+44A>G
c.1436+44A>G
c.3405+44A>G (n.3405+44A>G)
n.364+44A>G
 gnomAD v4
12g.51769380A>CCA2618840904SCN8Ac.3372+45A>C (n.3372+45A>C)
c.1219+45A>C
c.1436+45A>C
c.3405+45A>C (n.3405+45A>C)
n.364+45A>C
 gnomAD v4
12g.51769382C>ACA2618840907SCN8Ac.3372+47C>A (n.3372+47C>A)
c.1219+47C>A
c.1436+47C>A
c.3405+47C>A (n.3405+47C>A)
n.364+47C>A
 gnomAD v4
12g.51769382C=CA2036188804SCN8Ac.3372+47C= (n.3372+47C=)
c.1219+47C=
c.1436+47C=
c.3405+47C= (n.3405+47C=)
n.364+47C=
12g.51769382C>GCA6571591SCN8Ac.3372+47C>G (n.3372+47C>G)
c.1219+47C>G
c.1436+47C>G
c.3405+47C>G (n.3405+47C>G)
n.364+47C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769382C>TCA605238557SCN8Ac.3372+47C>T (n.3372+47C>T)
c.1219+47C>T
c.1436+47C>T
c.3405+47C>T (n.3405+47C>T)
n.364+47C>T
 gnomAD v2 gnomAD v4
12g.51769382_51769384delinsCAGCA2036188809SCN8Ac.3372+47_3372+49delinsCAG (n.3372+47_3372+49delinsCAG)
c.1219+47_1219+49delinsCAG
c.1436+47_1436+49delinsCAG
c.3405+47_3405+49delinsCAG (n.3405+47_3405+49delinsCAG)
n.364+47_364+49delinsCAG
12g.51769383A>GCA2618840912SCN8Ac.3372+48A>G (n.3372+48A>G)
c.1219+48A>G
c.1436+48A>G
c.3405+48A>G (n.3405+48A>G)
n.364+48A>G
 gnomAD v4
12g.51769383_51769384delCA605238558SCN8Ac.3372+48_3372+49del (n.3372+48_3372+49del)
c.1219+48_1219+49del
c.1436+48_1436+49del
c.3405+48_3405+49del (n.3405+48_3405+49del)
n.364+48_364+49del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51769384G>ACA2618840915SCN8Ac.3372+49G>A (n.3372+49G>A)
c.1219+49G>A
c.1436+49G>A
c.3405+49G>A (n.3405+49G>A)
n.364+49G>A
 gnomAD v4
12g.51769385G>TCA2618840918SCN8Ac.3372+50G>T (n.3372+50G>T)
c.1219+50G>T
c.1436+50G>T
c.3405+50G>T (n.3405+50G>T)
n.364+50G>T
 gnomAD v4
12g.51769386G>ACA2618840919SCN8Ac.3372+51G>A (n.3372+51G>A)
c.1219+51G>A
c.1436+51G>A
c.3405+51G>A (n.3405+51G>A)
n.364+51G>A
 gnomAD v4
12g.51769386G>CCA2575160209SCN8Ac.3372+51G>C (n.3372+51G>C)
c.1219+51G>C
c.1436+51G>C
c.3405+51G>C (n.3405+51G>C)
n.364+51G>C
 gnomAD v4
12g.51769386G>TCA2618840920SCN8Ac.3372+51G>T (n.3372+51G>T)
c.1219+51G>T
c.1436+51G>T
c.3405+51G>T (n.3405+51G>T)
n.364+51G>T
 gnomAD v4
12g.51769388G>ACA236318780SCN8Ac.3372+53G>A (n.3372+53G>A)
c.1219+53G>A
c.1436+53G>A
c.3405+53G>A (n.3405+53G>A)
n.364+53G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51769388G>CCA236318781SCN8Ac.3372+53G>C (n.3372+53G>C)
c.1219+53G>C
c.1436+53G>C
c.3405+53G>C (n.3405+53G>C)
n.364+53G>C
 dbSNP gnomAD v3 gnomAD v4
12g.51769388G=CA2036188814SCN8Ac.3372+53G= (n.3372+53G=)
c.1219+53G=
c.1436+53G=
c.3405+53G= (n.3405+53G=)
n.364+53G=
12g.51769388G>TCA2618840923SCN8Ac.3372+53G>T (n.3372+53G>T)
c.1219+53G>T
c.1436+53G>T
c.3405+53G>T (n.3405+53G>T)
n.364+53G>T
 gnomAD v4
12g.51769389C>ACA2575160210SCN8Ac.3372+54C>A (n.3372+54C>A)
c.1219+54C>A
c.1436+54C>A
c.3405+54C>A (n.3405+54C>A)
n.364+54C>A
 gnomAD v4
12g.51769389C>TCA2575160211SCN8Ac.3372+54C>T (n.3372+54C>T)
c.1219+54C>T
c.1436+54C>T
c.3405+54C>T (n.3405+54C>T)
n.364+54C>T
 gnomAD v4
12g.51769390T>CCA689783224SCN8Ac.3372+55T>C (n.3372+55T>C)
c.1219+55T>C
c.1436+55T>C
c.3405+55T>C (n.3405+55T>C)
n.364+55T>C
 dbSNP
12g.51769390T=CA2036188819SCN8Ac.3372+55T= (n.3372+55T=)
c.1219+55T=
c.1436+55T=
c.3405+55T= (n.3405+55T=)
n.364+55T=
12g.51769390dupCA2618840948SCN8Ac.3372+55dup (n.3372+55dup)
c.1219+55dup
c.1436+55dup
c.3405+55dup (n.3405+55dup)
n.364+55dup
 gnomAD v4
12g.51769391G>ACA2568251915SCN8Ac.3372+56G>A (n.3372+56G>A)
c.1219+56G>A
c.1436+56G>A
c.3405+56G>A (n.3405+56G>A)
n.364+56G>A
 gnomAD v4
12g.51769391G>TCA2618840949SCN8Ac.3372+56G>T (n.3372+56G>T)
c.1219+56G>T
c.1436+56G>T
c.3405+56G>T (n.3405+56G>T)
n.364+56G>T
 gnomAD v4

Number of alleles fetched