Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101768023_101768107dupCA951152237GNPTABc.1338_1408+14dup
c.1338_1422dup (p.Asn475AspfsTer2)
c.1257_1327+14dup
c.1122_1192+14dup
c.111_181+14dup
 dbSNP gnomAD v3 gnomAD v4
12g.101768030T>ACA386301662GNPTABc.1408+7A>T (n.1408+7A>T)
c.1415A>T (p.Asp472Val)
n.67+7A>T
c.1327+7A>T (n.1327+7A>T)
c.1192+7A>T (n.1192+7A>T)
c.181+7A>T (n.181+7A>T)
 ClinVar
12g.101768030T>CCA386301659GNPTABc.1408+7A>G (n.1408+7A>G)
c.1415A>G (p.Asp472Gly)
n.67+7A>G
c.1327+7A>G (n.1327+7A>G)
c.1192+7A>G (n.1192+7A>G)
c.181+7A>G (n.181+7A>G)
12g.101768030T>GCA386301660GNPTABc.1408+7A>C (n.1408+7A>C)
c.1415A>C (p.Asp472Ala)
n.67+7A>C
c.1327+7A>C (n.1327+7A>C)
c.1192+7A>C (n.1192+7A>C)
c.181+7A>C (n.181+7A>C)
12g.101768031C>ACA386301665GNPTABc.1408+6G>T (n.1408+6G>T)
c.1414G>T (p.Asp472Tyr)
n.67+6G>T
c.1327+6G>T (n.1327+6G>T)
c.1192+6G>T (n.1192+6G>T)
c.181+6G>T (n.181+6G>T)
12g.101768031C>GCA386301667GNPTABc.1408+6G>C (n.1408+6G>C)
c.1414G>C (p.Asp472His)
n.67+6G>C
c.1327+6G>C (n.1327+6G>C)
c.1192+6G>C (n.1192+6G>C)
c.181+6G>C (n.181+6G>C)
12g.101768031C>TCA386301668GNPTABc.1408+6G>A (n.1408+6G>A)
c.1414G>A (p.Asp472Asn)
n.67+6G>A
c.1327+6G>A (n.1327+6G>A)
c.1192+6G>A (n.1192+6G>A)
c.181+6G>A (n.181+6G>A)
12g.101768032C>ACA386301670GNPTABc.1408+5G>T (n.1408+5G>T)
c.1413G>T (p.Lys471Asn)
n.67+5G>T
c.1327+5G>T (n.1327+5G>T)
c.1192+5G>T (n.1192+5G>T)
c.181+5G>T (n.181+5G>T)
12g.101768032C=CA2058956962GNPTABc.1408+5G= (n.1408+5G=)
c.1413G= (p.Lys471=)
n.67+5G=
c.1327+5G= (n.1327+5G=)
c.1192+5G= (n.1192+5G=)
c.181+5G= (n.181+5G=)
12g.101768032C>GCA6746641GNPTABc.1408+5G>C (n.1408+5G>C)
c.1413G>C (p.Lys471Asn)
n.67+5G>C
c.1327+5G>C (n.1327+5G>C)
c.1192+5G>C (n.1192+5G>C)
c.181+5G>C (n.181+5G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101768033T>ACA386301674GNPTABc.1408+4A>T (n.1408+4A>T)
c.1412A>T (p.Lys471Met)
n.67+4A>T
c.1327+4A>T (n.1327+4A>T)
c.1192+4A>T (n.1192+4A>T)
c.181+4A>T (n.181+4A>T)
12g.101768033T>CCA386301676GNPTABc.1408+4A>G (n.1408+4A>G)
c.1412A>G (p.Lys471Arg)
n.67+4A>G
c.1327+4A>G (n.1327+4A>G)
c.1192+4A>G (n.1192+4A>G)
c.181+4A>G (n.181+4A>G)
12g.101768033T>GCA386301678GNPTABc.1408+4A>C (n.1408+4A>C)
c.1412A>C (p.Lys471Thr)
n.67+4A>C
c.1327+4A>C (n.1327+4A>C)
c.1192+4A>C (n.1192+4A>C)
c.181+4A>C (n.181+4A>C)
12g.101768034T>ACA386301680GNPTABc.1408+3A>T (n.1408+3A>T)
c.1411A>T (p.Lys471Ter)
n.67+3A>T
c.1327+3A>T (n.1327+3A>T)
c.1192+3A>T (n.1192+3A>T)
c.181+3A>T (n.181+3A>T)
12g.101768034T>CCA386301681GNPTABc.1408+3A>G (n.1408+3A>G)
c.1411A>G (p.Lys471Glu)
n.67+3A>G
c.1327+3A>G (n.1327+3A>G)
c.1192+3A>G (n.1192+3A>G)
c.181+3A>G (n.181+3A>G)
12g.101768034T>GCA386301683GNPTABc.1408+3A>C (n.1408+3A>C)
c.1411A>C (p.Lys471Gln)
n.67+3A>C
c.1327+3A>C (n.1327+3A>C)
c.1192+3A>C (n.1192+3A>C)
c.181+3A>C (n.181+3A>C)
12g.101768035A>CCA386301685GNPTABc.1408+2T>G (n.1408+2T>G)
c.1410T>G (p.Gly470=)
n.67+2T>G
c.1327+2T>G (n.1327+2T>G)
c.1192+2T>G (n.1192+2T>G)
c.181+2T>G (n.181+2T>G)
12g.101768035A>GCA386301686GNPTABc.1408+2T>C (n.1408+2T>C)
c.1410T>C (p.Gly470=)
n.67+2T>C
c.1327+2T>C (n.1327+2T>C)
c.1192+2T>C (n.1192+2T>C)
c.181+2T>C (n.181+2T>C)
 COSMIC COSMIC
12g.101768035A>TCA386301689GNPTABc.1408+2T>A (n.1408+2T>A)
c.1410T>A (p.Gly470=)
n.67+2T>A
c.1327+2T>A (n.1327+2T>A)
c.1192+2T>A (n.1192+2T>A)
c.181+2T>A (n.181+2T>A)
12g.101768036C>ACA16609432GNPTABc.1408+1G>T (n.1408+1G>T)
c.1409G>T (p.Gly470Val)
n.67+1G>T
c.1327+1G>T (n.1327+1G>T)
c.1192+1G>T (n.1192+1G>T)
c.181+1G>T (n.181+1G>T)
 ClinVar dbSNP gnomAD v4
12g.101768036C=CA2058956963GNPTABc.1408+1G= (n.1408+1G=)
c.1409G= (p.Gly470=)
n.67+1G=
c.1327+1G= (n.1327+1G=)
c.1192+1G= (n.1192+1G=)
c.181+1G= (n.181+1G=)
12g.101768036C>GCA386301693GNPTABc.1408+1G>C (n.1408+1G>C)
c.1409G>C (p.Gly470Ala)
n.67+1G>C
c.1327+1G>C (n.1327+1G>C)
c.1192+1G>C (n.1192+1G>C)
c.181+1G>C (n.181+1G>C)
12g.101768036C>TCA386301692GNPTABc.1408+1G>A (n.1408+1G>A)
c.1409G>A (p.Gly470Asp)
n.67+1G>A
c.1327+1G>A (n.1327+1G>A)
c.1192+1G>A (n.1192+1G>A)
c.181+1G>A (n.181+1G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101768037C>ACA386301697GNPTABc.1408G>T (p.Gly470Ter)
c.1408G>T (p.Gly470Cys)
n.67G>T
c.1327G>T (p.Gly443Ter)
c.1192G>T (p.Gly398Ter)
c.181G>T (p.Gly61Ter)
12g.101768037C>GCA386301699GNPTABc.1408G>C (p.Gly470Arg)
n.67G>C
c.1327G>C (p.Gly443Arg)
c.1192G>C (p.Gly398Arg)
c.181G>C (p.Gly61Arg)
12g.101768037C>TCA386301700GNPTABc.1408G>A (p.Gly470Arg)
c.1408G>A (p.Gly470Ser)
n.67G>A
c.1327G>A (p.Gly443Arg)
c.1192G>A (p.Gly398Arg)
c.181G>A (p.Gly61Arg)
12g.101768038A>CCA481320334GNPTABc.1407T>G (p.Ser469=)
n.66T>G
c.1326T>G (p.Ser442=)
c.1191T>G (p.Ser397=)
c.180T>G (p.Ser60=)
12g.101768038A>GCA481320338GNPTABc.1407T>C (p.Ser469=)
n.66T>C
c.1326T>C (p.Ser442=)
c.1191T>C (p.Ser397=)
c.180T>C (p.Ser60=)
12g.101768038A>TCA481320339GNPTABc.1407T>A (p.Ser469=)
n.66T>A
c.1326T>A (p.Ser442=)
c.1191T>A (p.Ser397=)
c.180T>A (p.Ser60=)
12g.101768039G>ACA386301702GNPTABc.1406C>T (p.Ser469Phe)
n.65C>T
c.1325C>T (p.Ser442Phe)
c.1190C>T (p.Ser397Phe)
c.179C>T (p.Ser60Phe)
12g.101768039G>CCA386301703GNPTABc.1406C>G (p.Ser469Cys)
n.65C>G
c.1325C>G (p.Ser442Cys)
c.1190C>G (p.Ser397Cys)
c.179C>G (p.Ser60Cys)
 COSMIC COSMIC
12g.101768039G>TCA386301705GNPTABc.1406C>A (p.Ser469Tyr)
n.65C>A
c.1325C>A (p.Ser442Tyr)
c.1190C>A (p.Ser397Tyr)
c.179C>A (p.Ser60Tyr)
12g.101768040A=CA2058956964GNPTABc.1405T= (p.Ser469=)
n.64T=
c.1324T= (p.Ser442=)
c.1189T= (p.Ser397=)
c.178T= (p.Ser60=)
12g.101768040A>CCA386301708GNPTABc.1405T>G (p.Ser469Ala)
n.64T>G
c.1324T>G (p.Ser442Ala)
c.1189T>G (p.Ser397Ala)
c.178T>G (p.Ser60Ala)
12g.101768040A>GCA386301709GNPTABc.1405T>C (p.Ser469Pro)
n.64T>C
c.1324T>C (p.Ser442Pro)
c.1189T>C (p.Ser397Pro)
c.178T>C (p.Ser60Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.101768040A>TCA386301710GNPTABc.1405T>A (p.Ser469Thr)
n.64T>A
c.1324T>A (p.Ser442Thr)
c.1189T>A (p.Ser397Thr)
c.178T>A (p.Ser60Thr)
12g.101768041G>ACA481320344GNPTABc.1404C>T (p.Cys468=)
n.63C>T
c.1323C>T (p.Cys441=)
c.1188C>T (p.Cys396=)
c.177C>T (p.Cys59=)
 gnomAD v4
12g.101768041G>CCA386301712GNPTABc.1404C>G (p.Cys468Trp)
n.63C>G
c.1323C>G (p.Cys441Trp)
c.1188C>G (p.Cys396Trp)
c.177C>G (p.Cys59Trp)
12g.101768041G>TCA386301713GNPTABc.1404C>A (p.Cys468Ter)
n.63C>A
c.1323C>A (p.Cys441Ter)
c.1188C>A (p.Cys396Ter)
c.177C>A (p.Cys59Ter)
12g.101768042C>ACA386301715GNPTABc.1403G>T (p.Cys468Phe)
n.62G>T
c.1322G>T (p.Cys441Phe)
c.1187G>T (p.Cys396Phe)
c.176G>T (p.Cys59Phe)
12g.101768042C>GCA386301717GNPTABc.1403G>C (p.Cys468Ser)
n.62G>C
c.1322G>C (p.Cys441Ser)
c.1187G>C (p.Cys396Ser)
c.176G>C (p.Cys59Ser)
12g.101768042C>TCA386301719GNPTABc.1403G>A (p.Cys468Tyr)
n.62G>A
c.1322G>A (p.Cys441Tyr)
c.1187G>A (p.Cys396Tyr)
c.176G>A (p.Cys59Tyr)
12g.101768043A=CA2058956965GNPTABc.1402T= (p.Cys468=)
n.61T=
c.1321T= (p.Cys441=)
c.1186T= (p.Cys396=)
c.175T= (p.Cys59=)
12g.101768043A>CCA386301721GNPTABc.1402T>G (p.Cys468Gly)
n.61T>G
c.1321T>G (p.Cys441Gly)
c.1186T>G (p.Cys396Gly)
c.175T>G (p.Cys59Gly)
12g.101768043A>GCA386301723GNPTABc.1402T>C (p.Cys468Arg)
n.61T>C
c.1321T>C (p.Cys441Arg)
c.1186T>C (p.Cys396Arg)
c.175T>C (p.Cys59Arg)
12g.101768043A>TCA344270GNPTABc.1402T>A (p.Cys468Ser)
n.61T>A
c.1321T>A (p.Cys441Ser)
c.1186T>A (p.Cys396Ser)
c.175T>A (p.Cys59Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101768044A>CCA386301725GNPTABc.1401T>G (p.Asp467Glu)
n.60T>G
c.1320T>G (p.Asp440Glu)
c.1185T>G (p.Asp395Glu)
c.174T>G (p.Asp58Glu)
12g.101768044A>GCA481320351GNPTABc.1401T>C (p.Asp467=)
n.60T>C
c.1320T>C (p.Asp440=)
c.1185T>C (p.Asp395=)
c.174T>C (p.Asp58=)
12g.101768044A>TCA386301726GNPTABc.1401T>A (p.Asp467Glu)
n.60T>A
c.1320T>A (p.Asp440Glu)
c.1185T>A (p.Asp395Glu)
c.174T>A (p.Asp58Glu)
12g.101768045T>ACA386301727GNPTABc.1400A>T (p.Asp467Val)
n.59A>T
c.1319A>T (p.Asp440Val)
c.1184A>T (p.Asp395Val)
c.173A>T (p.Asp58Val)
12g.101768045T>CCA6746642GNPTABc.1400A>G (p.Asp467Gly)
n.59A>G
c.1319A>G (p.Asp440Gly)
c.1184A>G (p.Asp395Gly)
c.173A>G (p.Asp58Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101768045T>GCA386301730GNPTABc.1400A>C (p.Asp467Ala)
n.59A>C
c.1319A>C (p.Asp440Ala)
c.1184A>C (p.Asp395Ala)
c.173A>C (p.Asp58Ala)
12g.101768045T=CA2058956966GNPTABc.1400A= (p.Asp467=)
n.59A=
c.1319A= (p.Asp440=)
c.1184A= (p.Asp395=)
c.173A= (p.Asp58=)
12g.101768045_101768046delinsTCCA2058956967GNPTABc.1399_1400delinsGA (p.Asp467=)
n.58_59delinsGA
c.1318_1319delinsGA (p.Asp440=)
c.1183_1184delinsGA (p.Asp395=)
c.172_173delinsGA (p.Asp58=)
12g.101768046C>ACA386301733GNPTABc.1399G>T (p.Asp467Tyr)
n.58G>T
c.1318G>T (p.Asp440Tyr)
c.1183G>T (p.Asp395Tyr)
c.172G>T (p.Asp58Tyr)
12g.101768046C=CA2058956968GNPTABc.1399G= (p.Asp467=)
n.58G=
c.1318G= (p.Asp440=)
c.1183G= (p.Asp395=)
c.172G= (p.Asp58=)
12g.101768046C>GCA386301736GNPTABc.1399G>C (p.Asp467His)
n.58G>C
c.1318G>C (p.Asp440His)
c.1183G>C (p.Asp395His)
c.172G>C (p.Asp58His)
 dbSNP
12g.101768046C>TCA386301738GNPTABc.1399G>A (p.Asp467Asn)
n.58G>A
c.1318G>A (p.Asp440Asn)
c.1183G>A (p.Asp395Asn)
c.172G>A (p.Asp58Asn)
12g.101768049delCA343349GNPTABc.1399del (p.Asp467IlefsTer?)
c.1399del (p.Asp467IlefsTer8)
n.58del
c.1318del (p.Asp440IlefsTer?)
c.1183del (p.Asp395IlefsTer?)
c.172del (p.Asp58IlefsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101768047C>ACA481320357GNPTABc.1398G>T (p.Gly466=)
n.57G>T
c.1317G>T (p.Gly439=)
c.1182G>T (p.Gly394=)
c.171G>T (p.Gly57=)
12g.101768047C>GCA481320359GNPTABc.1398G>C (p.Gly466=)
n.57G>C
c.1317G>C (p.Gly439=)
c.1182G>C (p.Gly394=)
c.171G>C (p.Gly57=)
12g.101768047C>TCA481320358GNPTABc.1398G>A (p.Gly466=)
n.57G>A
c.1317G>A (p.Gly439=)
c.1182G>A (p.Gly394=)
c.171G>A (p.Gly57=)
 gnomAD v4
12g.101768048C>ACA386301742GNPTABc.1397G>T (p.Gly466Val)
n.56G>T
c.1316G>T (p.Gly439Val)
c.1181G>T (p.Gly394Val)
c.170G>T (p.Gly57Val)
12g.101768048C=CA2058956969GNPTABc.1397G= (p.Gly466=)
n.56G=
c.1316G= (p.Gly439=)
c.1181G= (p.Gly394=)
c.170G= (p.Gly57=)
12g.101768048C>GCA6746643GNPTABc.1397G>C (p.Gly466Ala)
n.56G>C
c.1316G>C (p.Gly439Ala)
c.1181G>C (p.Gly394Ala)
c.170G>C (p.Gly57Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101768048C>TCA386301745GNPTABc.1397G>A (p.Gly466Glu)
n.56G>A
c.1316G>A (p.Gly439Glu)
c.1181G>A (p.Gly394Glu)
c.170G>A (p.Gly57Glu)
 gnomAD v4
12g.101768049C>ACA386301750GNPTABc.1396G>T (p.Gly466Trp)
n.55G>T
c.1315G>T (p.Gly439Trp)
c.1180G>T (p.Gly394Trp)
c.169G>T (p.Gly57Trp)
12g.101768049C=CA2058956970GNPTABc.1396G= (p.Gly466=)
n.55G=
c.1315G= (p.Gly439=)
c.1180G= (p.Gly394=)
c.169G= (p.Gly57=)
12g.101768049C>GCA386301748GNPTABc.1396G>C (p.Gly466Arg)
n.55G>C
c.1315G>C (p.Gly439Arg)
c.1180G>C (p.Gly394Arg)
c.169G>C (p.Gly57Arg)
 gnomAD v4
12g.101768049C>TCA386301749GNPTABc.1396G>A (p.Gly466Arg)
n.55G>A
c.1315G>A (p.Gly439Arg)
c.1180G>A (p.Gly394Arg)
c.169G>A (p.Gly57Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.101768050A>CCA481320368GNPTABc.1395T>G (p.Gly465=)
n.54T>G
c.1314T>G (p.Gly438=)
c.1179T>G (p.Gly393=)
c.168T>G (p.Gly56=)
12g.101768050A>GCA481320369GNPTABc.1395T>C (p.Gly465=)
n.54T>C
c.1314T>C (p.Gly438=)
c.1179T>C (p.Gly393=)
c.168T>C (p.Gly56=)
 gnomAD v4
12g.101768050A>TCA481320370GNPTABc.1395T>A (p.Gly465=)
n.54T>A
c.1314T>A (p.Gly438=)
c.1179T>A (p.Gly393=)
c.168T>A (p.Gly56=)
12g.101768051C>ACA6746644GNPTABc.1394G>T (p.Gly465Val)
n.53G>T
c.1313G>T (p.Gly438Val)
c.1178G>T (p.Gly393Val)
c.167G>T (p.Gly56Val)
 dbSNP ExAC gnomAD v2
12g.101768051C=CA2058956971GNPTABc.1394G= (p.Gly465=)
n.53G=
c.1313G= (p.Gly438=)
c.1178G= (p.Gly393=)
c.167G= (p.Gly56=)
12g.101768051C>GCA386301753GNPTABc.1394G>C (p.Gly465Ala)
n.53G>C
c.1313G>C (p.Gly438Ala)
c.1178G>C (p.Gly393Ala)
c.167G>C (p.Gly56Ala)
12g.101768051C>TCA386301755GNPTABc.1394G>A (p.Gly465Asp)
n.53G>A
c.1313G>A (p.Gly438Asp)
c.1178G>A (p.Gly393Asp)
c.167G>A (p.Gly56Asp)
12g.101768052C>ACA386301757GNPTABc.1393G>T (p.Gly465Cys)
n.52G>T
c.1312G>T (p.Gly438Cys)
c.1177G>T (p.Gly393Cys)
c.166G>T (p.Gly56Cys)
12g.101768052C=CA2058956972GNPTABc.1393G= (p.Gly465=)
n.52G=
c.1312G= (p.Gly438=)
c.1177G= (p.Gly393=)
c.166G= (p.Gly56=)
12g.101768052C>GCA386301758GNPTABc.1393G>C (p.Gly465Arg)
n.52G>C
c.1312G>C (p.Gly438Arg)
c.1177G>C (p.Gly393Arg)
c.166G>C (p.Gly56Arg)
12g.101768052C>TCA6746645GNPTABc.1393G>A (p.Gly465Ser)
n.52G>A
c.1312G>A (p.Gly438Ser)
c.1177G>A (p.Gly393Ser)
c.166G>A (p.Gly56Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101768053A>CCA386301760GNPTABc.1392T>G (p.Asp464Glu)
n.51T>G
c.1311T>G (p.Asp437Glu)
c.1176T>G (p.Asp392Glu)
c.165T>G (p.Asp55Glu)
12g.101768053A>GCA481320377GNPTABc.1392T>C (p.Asp464=)
n.51T>C
c.1311T>C (p.Asp437=)
c.1176T>C (p.Asp392=)
c.165T>C (p.Asp55=)
12g.101768053A>TCA386301762GNPTABc.1392T>A (p.Asp464Glu)
n.51T>A
c.1311T>A (p.Asp437Glu)
c.1176T>A (p.Asp392Glu)
c.165T>A (p.Asp55Glu)
12g.101768054T>ACA386301764GNPTABc.1391A>T (p.Asp464Val)
n.50A>T
c.1310A>T (p.Asp437Val)
c.1175A>T (p.Asp392Val)
c.164A>T (p.Asp55Val)
 gnomAD v4
12g.101768054T>CCA386301766GNPTABc.1391A>G (p.Asp464Gly)
n.50A>G
c.1310A>G (p.Asp437Gly)
c.1175A>G (p.Asp392Gly)
c.164A>G (p.Asp55Gly)
12g.101768054T>GCA386301768GNPTABc.1391A>C (p.Asp464Ala)
n.50A>C
c.1310A>C (p.Asp437Ala)
c.1175A>C (p.Asp392Ala)
c.164A>C (p.Asp55Ala)
12g.101768054_101768056delCA912973323GNPTABc.1389_1391del (p.Trp463_Asp464delinsCys)
n.48_50del
c.1308_1310del (p.Trp436_Asp437delinsCys)
c.1173_1175del (p.Trp391_Asp392delinsCys)
c.162_164del (p.Trp54_Asp55delinsCys)
12g.101768054_101768056delinsTCCCA2058956973GNPTABc.1389_1391delinsGGA (p.Trp463=)
n.48_50delinsGGA
c.1308_1310delinsGGA (p.Trp436=)
c.1173_1175delinsGGA (p.Trp391=)
c.162_164delinsGGA (p.Trp54=)
12g.101768055C>ACA386301770GNPTABc.1390G>T (p.Asp464Tyr)
n.49G>T
c.1309G>T (p.Asp437Tyr)
c.1174G>T (p.Asp392Tyr)
c.163G>T (p.Asp55Tyr)
12g.101768055C>GCA386301775GNPTABc.1390G>C (p.Asp464His)
n.49G>C
c.1309G>C (p.Asp437His)
c.1174G>C (p.Asp392His)
c.163G>C (p.Asp55His)
12g.101768055C>TCA386301773GNPTABc.1390G>A (p.Asp464Asn)
n.49G>A
c.1309G>A (p.Asp437Asn)
c.1174G>A (p.Asp392Asn)
c.163G>A (p.Asp55Asn)
12g.101768056_101768057delCA658822544GNPTABc.1389_1390del (p.Trp463Ter)
n.48_49del
c.1308_1309del (p.Trp436Ter)
c.1173_1174del (p.Trp391Ter)
c.162_163del (p.Trp54Ter)
 ClinVar dbSNP
12g.101768056C>ACA386301778GNPTABc.1389G>T (p.Trp463Cys)
n.48G>T
c.1308G>T (p.Trp436Cys)
c.1173G>T (p.Trp391Cys)
c.162G>T (p.Trp54Cys)
12g.101768056C>GCA386301780GNPTABc.1389G>C (p.Trp463Cys)
n.48G>C
c.1308G>C (p.Trp436Cys)
c.1173G>C (p.Trp391Cys)
c.162G>C (p.Trp54Cys)
12g.101768056C>TCA386301779GNPTABc.1389G>A (p.Trp463Ter)
n.48G>A
c.1308G>A (p.Trp436Ter)
c.1173G>A (p.Trp391Ter)
c.162G>A (p.Trp54Ter)
12g.101768057C>ACA386301783GNPTABc.1388G>T (p.Trp463Leu)
n.47G>T
c.1307G>T (p.Trp436Leu)
c.1172G>T (p.Trp391Leu)
c.161G>T (p.Trp54Leu)
12g.101768057C>GCA386301786GNPTABc.1388G>C (p.Trp463Ser)
n.47G>C
c.1307G>C (p.Trp436Ser)
c.1172G>C (p.Trp391Ser)
c.161G>C (p.Trp54Ser)
 gnomAD v4
12g.101768057C>TCA386301785GNPTABc.1388G>A (p.Trp463Ter)
n.47G>A
c.1307G>A (p.Trp436Ter)
c.1172G>A (p.Trp391Ter)
c.161G>A (p.Trp54Ter)
12g.101768058A>CCA386301788GNPTABc.1387T>G (p.Trp463Gly)
n.46T>G
c.1306T>G (p.Trp436Gly)
c.1171T>G (p.Trp391Gly)
c.160T>G (p.Trp54Gly)
12g.101768058A>GCA386301790GNPTABc.1387T>C (p.Trp463Arg)
n.46T>C
c.1306T>C (p.Trp436Arg)
c.1171T>C (p.Trp391Arg)
c.160T>C (p.Trp54Arg)
12g.101768058A>TCA386301792GNPTABc.1387T>A (p.Trp463Arg)
n.46T>A
c.1306T>A (p.Trp436Arg)
c.1171T>A (p.Trp391Arg)
c.160T>A (p.Trp54Arg)
12g.101768059A=CA2058956974GNPTABc.1386T= (p.Asp462=)
n.45T=
c.1305T= (p.Asp435=)
c.1170T= (p.Asp390=)
c.159T= (p.Asp53=)
12g.101768059A>CCA386301794GNPTABc.1386T>G (p.Asp462Glu)
n.45T>G
c.1305T>G (p.Asp435Glu)
c.1170T>G (p.Asp390Glu)
c.159T>G (p.Asp53Glu)
12g.101768059A>GCA481320389GNPTABc.1386T>C (p.Asp462=)
n.45T>C
c.1305T>C (p.Asp435=)
c.1170T>C (p.Asp390=)
c.159T>C (p.Asp53=)
 dbSNP gnomAD v3 gnomAD v4
12g.101768059A>TCA6746646GNPTABc.1386T>A (p.Asp462Glu)
n.45T>A
c.1305T>A (p.Asp435Glu)
c.1170T>A (p.Asp390Glu)
c.159T>A (p.Asp53Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101768060T>ACA386301798GNPTABc.1385A>T (p.Asp462Val)
n.44A>T
c.1304A>T (p.Asp435Val)
c.1169A>T (p.Asp390Val)
c.158A>T (p.Asp53Val)
12g.101768060T>CCA386301800GNPTABc.1385A>G (p.Asp462Gly)
n.44A>G
c.1304A>G (p.Asp435Gly)
c.1169A>G (p.Asp390Gly)
c.158A>G (p.Asp53Gly)
12g.101768060T>GCA386301802GNPTABc.1385A>C (p.Asp462Ala)
n.44A>C
c.1304A>C (p.Asp435Ala)
c.1169A>C (p.Asp390Ala)
c.158A>C (p.Asp53Ala)
12g.101768060dupCA343348GNPTABc.1385dup (p.Asp462GlufsTer?)
c.1385dup (p.Asp462GlufsTer10)
n.44dup
c.1304dup (p.Asp435GlufsTer?)
c.1169dup (p.Asp390GlufsTer?)
c.158dup (p.Asp53GlufsTer?)
 ClinVar dbSNP
12g.101768061C>ACA386301805GNPTABc.1384G>T (p.Asp462Tyr)
n.43G>T
c.1303G>T (p.Asp435Tyr)
c.1168G>T (p.Asp390Tyr)
c.157G>T (p.Asp53Tyr)
 gnomAD v4
12g.101768061C=CA2058956975GNPTABc.1384G= (p.Asp462=)
n.43G=
c.1303G= (p.Asp435=)
c.1168G= (p.Asp390=)
c.157G= (p.Asp53=)
12g.101768061C>GCA386301806GNPTABc.1384G>C (p.Asp462His)
n.43G>C
c.1303G>C (p.Asp435His)
c.1168G>C (p.Asp390His)
c.157G>C (p.Asp53His)
12g.101768061C>TCA386301808GNPTABc.1384G>A (p.Asp462Asn)
n.43G>A
c.1303G>A (p.Asp435Asn)
c.1168G>A (p.Asp390Asn)
c.157G>A (p.Asp53Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101768062G>ACA6746647GNPTABc.1383C>T (p.Cys461=)
n.42C>T
c.1302C>T (p.Cys434=)
c.1167C>T (p.Cys389=)
c.156C>T (p.Cys52=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101768062G>CCA386301813GNPTABc.1383C>G (p.Cys461Trp)
n.42C>G
c.1302C>G (p.Cys434Trp)
c.1167C>G (p.Cys389Trp)
c.156C>G (p.Cys52Trp)
12g.101768062G=CA2058956976GNPTABc.1383C= (p.Cys461=)
n.42C=
c.1302C= (p.Cys434=)
c.1167C= (p.Cys389=)
c.156C= (p.Cys52=)
12g.101768062G>TCA386301811GNPTABc.1383C>A (p.Cys461Ter)
n.42C>A
c.1302C>A (p.Cys434Ter)
c.1167C>A (p.Cys389Ter)
c.156C>A (p.Cys52Ter)
 gnomAD v4
12g.101768063C>ACA386301815GNPTABc.1382G>T (p.Cys461Phe)
n.41G>T
c.1301G>T (p.Cys434Phe)
c.1166G>T (p.Cys389Phe)
c.155G>T (p.Cys52Phe)
 gnomAD v4
12g.101768063C>GCA386301817GNPTABc.1382G>C (p.Cys461Ser)
n.41G>C
c.1301G>C (p.Cys434Ser)
c.1166G>C (p.Cys389Ser)
c.155G>C (p.Cys52Ser)
12g.101768063C>TCA386301819GNPTABc.1382G>A (p.Cys461Tyr)
n.41G>A
c.1301G>A (p.Cys434Tyr)
c.1166G>A (p.Cys389Tyr)
c.155G>A (p.Cys52Tyr)
12g.101768064A=CA2058956977GNPTABc.1381T= (p.Cys461=)
n.40T=
c.1300T= (p.Cys434=)
c.1165T= (p.Cys389=)
c.154T= (p.Cys52=)
12g.101768064A>CCA343347GNPTABc.1381T>G (p.Cys461Gly)
n.40T>G
c.1300T>G (p.Cys434Gly)
c.1165T>G (p.Cys389Gly)
c.154T>G (p.Cys52Gly)
 ClinVar dbSNP
12g.101768064A>GCA386301822GNPTABc.1381T>C (p.Cys461Arg)
n.40T>C
c.1300T>C (p.Cys434Arg)
c.1165T>C (p.Cys389Arg)
c.154T>C (p.Cys52Arg)
12g.101768064A>TCA386301824GNPTABc.1381T>A (p.Cys461Ser)
n.40T>A
c.1300T>A (p.Cys434Ser)
c.1165T>A (p.Cys389Ser)
c.154T>A (p.Cys52Ser)
12g.101768065G>ACA481320400GNPTABc.1380C>T (p.Ala460=)
n.39C>T
c.1299C>T (p.Ala433=)
c.1164C>T (p.Ala388=)
c.153C>T (p.Ala51=)
12g.101768065G>CCA481320398GNPTABc.1380C>G (p.Ala460=)
n.39C>G
c.1299C>G (p.Ala433=)
c.1164C>G (p.Ala388=)
c.153C>G (p.Ala51=)
12g.101768065G>TCA481320397GNPTABc.1380C>A (p.Ala460=)
n.39C>A
c.1299C>A (p.Ala433=)
c.1164C>A (p.Ala388=)
c.153C>A (p.Ala51=)
12g.101768066G>ACA386301826GNPTABc.1379C>T (p.Ala460Val)
n.38C>T
c.1298C>T (p.Ala433Val)
c.1163C>T (p.Ala388Val)
c.152C>T (p.Ala51Val)
12g.101768066G>CCA386301828GNPTABc.1379C>G (p.Ala460Gly)
n.38C>G
c.1298C>G (p.Ala433Gly)
c.1163C>G (p.Ala388Gly)
c.152C>G (p.Ala51Gly)
12g.101768066G>TCA386301830GNPTABc.1379C>A (p.Ala460Asp)
n.38C>A
c.1298C>A (p.Ala433Asp)
c.1163C>A (p.Ala388Asp)
c.152C>A (p.Ala51Asp)
12g.101768067C>ACA386301834GNPTABc.1378G>T (p.Ala460Ser)
n.37G>T
c.1297G>T (p.Ala433Ser)
c.1162G>T (p.Ala388Ser)
c.151G>T (p.Ala51Ser)
12g.101768067C>GCA386301836GNPTABc.1378G>C (p.Ala460Pro)
n.37G>C
c.1297G>C (p.Ala433Pro)
c.1162G>C (p.Ala388Pro)
c.151G>C (p.Ala51Pro)
12g.101768067C>TCA386301832GNPTABc.1378G>A (p.Ala460Thr)
n.37G>A
c.1297G>A (p.Ala433Thr)
c.1162G>A (p.Ala388Thr)
c.151G>A (p.Ala51Thr)
12g.101768068T>ACA481320409GNPTABc.1377A>T (p.Ser459=)
n.36A>T
c.1296A>T (p.Ser432=)
c.1161A>T (p.Ser387=)
c.150A>T (p.Ser50=)
12g.101768068T>CCA242461255GNPTABc.1377A>G (p.Ser459=)
n.36A>G
c.1296A>G (p.Ser432=)
c.1161A>G (p.Ser387=)
c.150A>G (p.Ser50=)
 ClinVar dbSNP gnomAD v4
12g.101768068T>GCA481320411GNPTABc.1377A>C (p.Ser459=)
n.36A>C
c.1296A>C (p.Ser432=)
c.1161A>C (p.Ser387=)
c.150A>C (p.Ser50=)
 dbSNP
12g.101768068T=CA2058956978GNPTABc.1377A= (p.Ser459=)
n.36A=
c.1296A= (p.Ser432=)
c.1161A= (p.Ser387=)
c.150A= (p.Ser50=)
12g.101768069G>ACA386301839GNPTABc.1376C>T (p.Ser459Leu)
n.35C>T
c.1295C>T (p.Ser432Leu)
c.1160C>T (p.Ser387Leu)
c.149C>T (p.Ser50Leu)
 gnomAD v4 COSMIC COSMIC
12g.101768069G>CCA386301841GNPTABc.1376C>G (p.Ser459Ter)
n.35C>G
c.1295C>G (p.Ser432Ter)
c.1160C>G (p.Ser387Ter)
c.149C>G (p.Ser50Ter)
12g.101768069G>TCA386301843GNPTABc.1376C>A (p.Ser459Ter)
n.35C>A
c.1295C>A (p.Ser432Ter)
c.1160C>A (p.Ser387Ter)
c.149C>A (p.Ser50Ter)
 COSMIC COSMIC
12g.101768070A>CCA386301846GNPTABc.1375T>G (p.Ser459Ala)
n.34T>G
c.1294T>G (p.Ser432Ala)
c.1159T>G (p.Ser387Ala)
c.148T>G (p.Ser50Ala)
12g.101768070A>GCA386301848GNPTABc.1375T>C (p.Ser459Pro)
n.34T>C
c.1294T>C (p.Ser432Pro)
c.1159T>C (p.Ser387Pro)
c.148T>C (p.Ser50Pro)
12g.101768070A>TCA386301849GNPTABc.1375T>A (p.Ser459Thr)
n.34T>A
c.1294T>A (p.Ser432Thr)
c.1159T>A (p.Ser387Thr)
c.148T>A (p.Ser50Thr)
 gnomAD v4
12g.101768071dupCA2620450360GNPTABc.1375dup (p.Ser459PhefsTer?)
c.1375dup (p.Ser459PhefsTer13)
n.34dup
c.1294dup (p.Ser432PhefsTer?)
c.1159dup (p.Ser387PhefsTer?)
c.148dup (p.Ser50PhefsTer?)
 gnomAD v4
12g.101768071A>CCA386301851GNPTABc.1374T>G (p.Asn458Lys)
n.33T>G
c.1293T>G (p.Asn431Lys)
c.1158T>G (p.Asn386Lys)
c.147T>G (p.Asn49Lys)
12g.101768071A>GCA481320422GNPTABc.1374T>C (p.Asn458=)
n.33T>C
c.1293T>C (p.Asn431=)
c.1158T>C (p.Asn386=)
c.147T>C (p.Asn49=)
12g.101768071A>TCA386301853GNPTABc.1374T>A (p.Asn458Lys)
n.33T>A
c.1293T>A (p.Asn431Lys)
c.1158T>A (p.Asn386Lys)
c.147T>A (p.Asn49Lys)
12g.101768072T>ACA386301856GNPTABc.1373A>T (p.Asn458Ile)
n.32A>T
c.1292A>T (p.Asn431Ile)
c.1157A>T (p.Asn386Ile)
c.146A>T (p.Asn49Ile)
12g.101768072T>CCA386301858GNPTABc.1373A>G (p.Asn458Ser)
n.32A>G
c.1292A>G (p.Asn431Ser)
c.1157A>G (p.Asn386Ser)
c.146A>G (p.Asn49Ser)
12g.101768072T>GCA386301860GNPTABc.1373A>C (p.Asn458Thr)
n.32A>C
c.1292A>C (p.Asn431Thr)
c.1157A>C (p.Asn386Thr)
c.146A>C (p.Asn49Thr)
12g.101768073T>ACA386301864GNPTABc.1372A>T (p.Asn458Tyr)
n.31A>T
c.1291A>T (p.Asn431Tyr)
c.1156A>T (p.Asn386Tyr)
c.145A>T (p.Asn49Tyr)
12g.101768073T>CCA386301866GNPTABc.1372A>G (p.Asn458Asp)
n.31A>G
c.1291A>G (p.Asn431Asp)
c.1156A>G (p.Asn386Asp)
c.145A>G (p.Asn49Asp)
12g.101768073T>GCA386301862GNPTABc.1372A>C (p.Asn458His)
n.31A>C
c.1291A>C (p.Asn431His)
c.1156A>C (p.Asn386His)
c.145A>C (p.Asn49His)
12g.101768074A>CCA386301868GNPTABc.1371T>G (p.Asn457Lys)
n.30T>G
c.1290T>G (p.Asn430Lys)
c.1155T>G (p.Asn385Lys)
c.144T>G (p.Asn48Lys)
12g.101768074A>GCA481320433GNPTABc.1371T>C (p.Asn457=)
n.30T>C
c.1290T>C (p.Asn430=)
c.1155T>C (p.Asn385=)
c.144T>C (p.Asn48=)
12g.101768074A>TCA386301870GNPTABc.1371T>A (p.Asn457Lys)
n.30T>A
c.1290T>A (p.Asn430Lys)
c.1155T>A (p.Asn385Lys)
c.144T>A (p.Asn48Lys)
12g.101768075T>ACA386301872GNPTABc.1370A>T (p.Asn457Ile)
n.29A>T
c.1289A>T (p.Asn430Ile)
c.1154A>T (p.Asn385Ile)
c.143A>T (p.Asn48Ile)
12g.101768075T>CCA386301874GNPTABc.1370A>G (p.Asn457Ser)
n.29A>G
c.1289A>G (p.Asn430Ser)
c.1154A>G (p.Asn385Ser)
c.143A>G (p.Asn48Ser)
12g.101768075T>GCA386301876GNPTABc.1370A>C (p.Asn457Thr)
n.29A>C
c.1289A>C (p.Asn430Thr)
c.1154A>C (p.Asn385Thr)
c.143A>C (p.Asn48Thr)
12g.101768076T>ACA386301882GNPTABc.1369A>T (p.Asn457Tyr)
n.28A>T
c.1288A>T (p.Asn430Tyr)
c.1153A>T (p.Asn385Tyr)
c.142A>T (p.Asn48Tyr)
12g.101768076T>CCA386301878GNPTABc.1369A>G (p.Asn457Asp)
n.28A>G
c.1288A>G (p.Asn430Asp)
c.1153A>G (p.Asn385Asp)
c.142A>G (p.Asn48Asp)
12g.101768076T>GCA386301880GNPTABc.1369A>C (p.Asn457His)
n.28A>C
c.1288A>C (p.Asn430His)
c.1153A>C (p.Asn385His)
c.142A>C (p.Asn48His)
12g.101768077A>CCA386301884GNPTABc.1368T>G (p.Cys456Trp)
n.27T>G
c.1287T>G (p.Cys429Trp)
c.1152T>G (p.Cys384Trp)
c.141T>G (p.Cys47Trp)
12g.101768077A>GCA481320447GNPTABc.1368T>C (p.Cys456=)
n.27T>C
c.1287T>C (p.Cys429=)
c.1152T>C (p.Cys384=)
c.141T>C (p.Cys47=)
 gnomAD v4
12g.101768077A>TCA386301886GNPTABc.1368T>A (p.Cys456Ter)
n.27T>A
c.1287T>A (p.Cys429Ter)
c.1152T>A (p.Cys384Ter)
c.141T>A (p.Cys47Ter)
12g.101768078C>ACA386301888GNPTABc.1367G>T (p.Cys456Phe)
n.26G>T
c.1286G>T (p.Cys429Phe)
c.1151G>T (p.Cys384Phe)
c.140G>T (p.Cys47Phe)
12g.101768078C>GCA386301890GNPTABc.1367G>C (p.Cys456Ser)
n.26G>C
c.1286G>C (p.Cys429Ser)
c.1151G>C (p.Cys384Ser)
c.140G>C (p.Cys47Ser)
12g.101768078C>TCA386301892GNPTABc.1367G>A (p.Cys456Tyr)
n.26G>A
c.1286G>A (p.Cys429Tyr)
c.1151G>A (p.Cys384Tyr)
c.140G>A (p.Cys47Tyr)
 gnomAD v4
12g.101768079A>CCA386301897GNPTABc.1366T>G (p.Cys456Gly)
n.25T>G
c.1285T>G (p.Cys429Gly)
c.1150T>G (p.Cys384Gly)
c.139T>G (p.Cys47Gly)
12g.101768079A>GCA386301896GNPTABc.1366T>C (p.Cys456Arg)
n.25T>C
c.1285T>C (p.Cys429Arg)
c.1150T>C (p.Cys384Arg)
c.139T>C (p.Cys47Arg)
12g.101768079A>TCA386301895GNPTABc.1366T>A (p.Cys456Ser)
n.25T>A
c.1285T>A (p.Cys429Ser)
c.1150T>A (p.Cys384Ser)
c.139T>A (p.Cys47Ser)
12g.101768080A>CCA481320452GNPTABc.1365T>G (p.Ala455=)
n.24T>G
c.1284T>G (p.Ala428=)
c.1149T>G (p.Ala383=)
c.138T>G (p.Ala46=)
12g.101768080A>GCA481320453GNPTABc.1365T>C (p.Ala455=)
n.24T>C
c.1284T>C (p.Ala428=)
c.1149T>C (p.Ala383=)
c.138T>C (p.Ala46=)
12g.101768080A>TCA481320454GNPTABc.1365T>A (p.Ala455=)
n.24T>A
c.1284T>A (p.Ala428=)
c.1149T>A (p.Ala383=)
c.138T>A (p.Ala46=)
12g.101768081G>ACA386301900GNPTABc.1364C>T (p.Ala455Val)
n.23C>T
c.1283C>T (p.Ala428Val)
c.1148C>T (p.Ala383Val)
c.137C>T (p.Ala46Val)
 ClinVar
12g.101768081G>CCA386301904GNPTABc.1364C>G (p.Ala455Gly)
n.23C>G
c.1283C>G (p.Ala428Gly)
c.1148C>G (p.Ala383Gly)
c.137C>G (p.Ala46Gly)
12g.101768081G>TCA386301902GNPTABc.1364C>A (p.Ala455Asp)
n.23C>A
c.1283C>A (p.Ala428Asp)
c.1148C>A (p.Ala383Asp)
c.137C>A (p.Ala46Asp)
12g.101768082C>ACA6746648GNPTABc.1363G>T (p.Ala455Ser)
n.22G>T
c.1282G>T (p.Ala428Ser)
c.1147G>T (p.Ala383Ser)
c.136G>T (p.Ala46Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101768082C=CA2058956979GNPTABc.1363G= (p.Ala455=)
n.22G=
c.1282G= (p.Ala428=)
c.1147G= (p.Ala383=)
c.136G= (p.Ala46=)
12g.101768082C>GCA386301907GNPTABc.1363G>C (p.Ala455Pro)
n.22G>C
c.1282G>C (p.Ala428Pro)
c.1147G>C (p.Ala383Pro)
c.136G>C (p.Ala46Pro)
12g.101768082C>TCA386301909GNPTABc.1363G>A (p.Ala455Thr)
n.22G>A
c.1282G>A (p.Ala428Thr)
c.1147G>A (p.Ala383Thr)
c.136G>A (p.Ala46Thr)
12g.101768083C>ACA386301911GNPTABc.1362G>T (p.Lys454Asn)
n.21G>T
c.1281G>T (p.Lys427Asn)
c.1146G>T (p.Lys382Asn)
c.135G>T (p.Lys45Asn)
 dbSNP
12g.101768083C=CA2058956980GNPTABc.1362G= (p.Lys454=)
n.21G=
c.1281G= (p.Lys427=)
c.1146G= (p.Lys382=)
c.135G= (p.Lys45=)
12g.101768083C>GCA386301913GNPTABc.1362G>C (p.Lys454Asn)
n.21G>C
c.1281G>C (p.Lys427Asn)
c.1146G>C (p.Lys382Asn)
c.135G>C (p.Lys45Asn)
12g.101768083C>TCA481320457GNPTABc.1362G>A (p.Lys454=)
n.21G>A
c.1281G>A (p.Lys427=)
c.1146G>A (p.Lys382=)
c.135G>A (p.Lys45=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101768084T>ACA386301916GNPTABc.1361A>T (p.Lys454Met)
n.20A>T
c.1280A>T (p.Lys427Met)
c.1145A>T (p.Lys382Met)
c.134A>T (p.Lys45Met)
12g.101768084T>CCA386301917GNPTABc.1361A>G (p.Lys454Arg)
n.20A>G
c.1280A>G (p.Lys427Arg)
c.1145A>G (p.Lys382Arg)
c.134A>G (p.Lys45Arg)
12g.101768084T>GCA386301918GNPTABc.1361A>C (p.Lys454Thr)
n.20A>C
c.1280A>C (p.Lys427Thr)
c.1145A>C (p.Lys382Thr)
c.134A>C (p.Lys45Thr)
12g.101768085T>ACA386301919GNPTABc.1360A>T (p.Lys454Ter)
n.19A>T
c.1279A>T (p.Lys427Ter)
c.1144A>T (p.Lys382Ter)
c.133A>T (p.Lys45Ter)
12g.101768085T>CCA386301920GNPTABc.1360A>G (p.Lys454Glu)
n.19A>G
c.1279A>G (p.Lys427Glu)
c.1144A>G (p.Lys382Glu)
c.133A>G (p.Lys45Glu)
12g.101768085T>GCA386301921GNPTABc.1360A>C (p.Lys454Gln)
n.19A>C
c.1279A>C (p.Lys427Gln)
c.1144A>C (p.Lys382Gln)
c.133A>C (p.Lys45Gln)
12g.101768086G>ACA481320461GNPTABc.1359C>T (p.Asp453=)
n.18C>T
c.1278C>T (p.Asp426=)
c.1143C>T (p.Asp381=)
c.132C>T (p.Asp44=)
12g.101768086G>CCA386301922GNPTABc.1359C>G (p.Asp453Glu)
n.18C>G
c.1278C>G (p.Asp426Glu)
c.1143C>G (p.Asp381Glu)
c.132C>G (p.Asp44Glu)
12g.101768086G>TCA386301923GNPTABc.1359C>A (p.Asp453Glu)
n.18C>A
c.1278C>A (p.Asp426Glu)
c.1143C>A (p.Asp381Glu)
c.132C>A (p.Asp44Glu)
12g.101768087T>ACA386301924GNPTABc.1358A>T (p.Asp453Val)
n.17A>T
c.1277A>T (p.Asp426Val)
c.1142A>T (p.Asp381Val)
c.131A>T (p.Asp44Val)
12g.101768087T>CCA386301926GNPTABc.1358A>G (p.Asp453Gly)
n.17A>G
c.1277A>G (p.Asp426Gly)
c.1142A>G (p.Asp381Gly)
c.131A>G (p.Asp44Gly)
12g.101768087T>GCA386301925GNPTABc.1358A>C (p.Asp453Ala)
n.17A>C
c.1277A>C (p.Asp426Ala)
c.1142A>C (p.Asp381Ala)
c.131A>C (p.Asp44Ala)
12g.101768088C>ACA386301927GNPTABc.1357G>T (p.Asp453Tyr)
n.16G>T
c.1276G>T (p.Asp426Tyr)
c.1141G>T (p.Asp381Tyr)
c.130G>T (p.Asp44Tyr)
12g.101768088C>GCA386301928GNPTABc.1357G>C (p.Asp453His)
n.16G>C
c.1276G>C (p.Asp426His)
c.1141G>C (p.Asp381His)
c.130G>C (p.Asp44His)
12g.101768088C>TCA386301929GNPTABc.1357G>A (p.Asp453Asn)
n.16G>A
c.1276G>A (p.Asp426Asn)
c.1141G>A (p.Asp381Asn)
c.130G>A (p.Asp44Asn)
12g.101768089A>CCA386301930GNPTABc.1356T>G (p.Cys452Trp)
n.15T>G
c.1275T>G (p.Cys425Trp)
c.1140T>G (p.Cys380Trp)
c.129T>G (p.Cys43Trp)
12g.101768089A>GCA481320468GNPTABc.1356T>C (p.Cys452=)
n.15T>C
c.1275T>C (p.Cys425=)
c.1140T>C (p.Cys380=)
c.129T>C (p.Cys43=)
 ClinVar
12g.101768089A>TCA386301931GNPTABc.1356T>A (p.Cys452Ter)
n.15T>A
c.1275T>A (p.Cys425Ter)
c.1140T>A (p.Cys380Ter)
c.129T>A (p.Cys43Ter)
12g.101768090C>ACA386301932GNPTABc.1355G>T (p.Cys452Phe)
n.14G>T
c.1274G>T (p.Cys425Phe)
c.1139G>T (p.Cys380Phe)
c.128G>T (p.Cys43Phe)
12g.101768090C>GCA386301933GNPTABc.1355G>C (p.Cys452Ser)
n.14G>C
c.1274G>C (p.Cys425Ser)
c.1139G>C (p.Cys380Ser)
c.128G>C (p.Cys43Ser)
12g.101768090C>TCA386301934GNPTABc.1355G>A (p.Cys452Tyr)
n.14G>A
c.1274G>A (p.Cys425Tyr)
c.1139G>A (p.Cys380Tyr)
c.128G>A (p.Cys43Tyr)
 gnomAD v4
12g.101768091A=CA2058956981GNPTABc.1354T= (p.Cys452=)
n.13T=
c.1273T= (p.Cys425=)
c.1138T= (p.Cys380=)
c.127T= (p.Cys43=)
12g.101768091A>CCA386301935GNPTABc.1354T>G (p.Cys452Gly)
n.13T>G
c.1273T>G (p.Cys425Gly)
c.1138T>G (p.Cys380Gly)
c.127T>G (p.Cys43Gly)
12g.101768091A>GCA386301936GNPTABc.1354T>C (p.Cys452Arg)
n.13T>C
c.1273T>C (p.Cys425Arg)
c.1138T>C (p.Cys380Arg)
c.127T>C (p.Cys43Arg)
12g.101768091A>TCA6746649GNPTABc.1354T>A (p.Cys452Ser)
n.13T>A
c.1273T>A (p.Cys425Ser)
c.1138T>A (p.Cys380Ser)
c.127T>A (p.Cys43Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101768092A>CCA386301937GNPTABc.1353T>G (p.Tyr451Ter)
n.12T>G
c.1272T>G (p.Tyr424Ter)
c.1137T>G (p.Tyr379Ter)
c.126T>G (p.Tyr42Ter)
12g.101768092A>GCA481320473GNPTABc.1353T>C (p.Tyr451=)
n.12T>C
c.1272T>C (p.Tyr424=)
c.1137T>C (p.Tyr379=)
c.126T>C (p.Tyr42=)
12g.101768092A>TCA386301938GNPTABc.1353T>A (p.Tyr451Ter)
n.12T>A
c.1272T>A (p.Tyr424Ter)
c.1137T>A (p.Tyr379Ter)
c.126T>A (p.Tyr42Ter)
12g.101768093T>ACA386301939GNPTABc.1352A>T (p.Tyr451Phe)
n.11A>T
c.1271A>T (p.Tyr424Phe)
c.1136A>T (p.Tyr379Phe)
c.125A>T (p.Tyr42Phe)
12g.101768093T>CCA386301940GNPTABc.1352A>G (p.Tyr451Cys)
n.11A>G
c.1271A>G (p.Tyr424Cys)
c.1136A>G (p.Tyr379Cys)
c.125A>G (p.Tyr42Cys)
 gnomAD v4
12g.101768093T>GCA386301941GNPTABc.1352A>C (p.Tyr451Ser)
n.11A>C
c.1271A>C (p.Tyr424Ser)
c.1136A>C (p.Tyr379Ser)
c.125A>C (p.Tyr42Ser)
12g.101768094A=CA2058956982GNPTABc.1351T= (p.Tyr451=)
n.10T=
c.1270T= (p.Tyr424=)
c.1135T= (p.Tyr379=)
c.124T= (p.Tyr42=)
12g.101768094A>CCA386301942GNPTABc.1351T>G (p.Tyr451Asp)
n.10T>G
c.1270T>G (p.Tyr424Asp)
c.1135T>G (p.Tyr379Asp)
c.124T>G (p.Tyr42Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.101768094A>GCA386301943GNPTABc.1351T>C (p.Tyr451His)
n.10T>C
c.1270T>C (p.Tyr424His)
c.1135T>C (p.Tyr379His)
c.124T>C (p.Tyr42His)
12g.101768094A>TCA386301944GNPTABc.1351T>A (p.Tyr451Asn)
n.10T>A
c.1270T>A (p.Tyr424Asn)
c.1135T>A (p.Tyr379Asn)
c.124T>A (p.Tyr42Asn)
12g.101768095G>ACA481320477GNPTABc.1350C>T (p.Gly450=)
n.9C>T
c.1269C>T (p.Gly423=)
c.1134C>T (p.Gly378=)
c.123C>T (p.Gly41=)
12g.101768095G>CCA481320480GNPTABc.1350C>G (p.Gly450=)
n.9C>G
c.1269C>G (p.Gly423=)
c.1134C>G (p.Gly378=)
c.123C>G (p.Gly41=)
 gnomAD v4
12g.101768095G>TCA481320479GNPTABc.1350C>A (p.Gly450=)
n.9C>A
c.1269C>A (p.Gly423=)
c.1134C>A (p.Gly378=)
c.123C>A (p.Gly41=)
12g.101768096C>ACA386301947GNPTABc.1349G>T (p.Gly450Val)
n.8G>T
c.1268G>T (p.Gly423Val)
c.1133G>T (p.Gly378Val)
c.122G>T (p.Gly41Val)
12g.101768096C>GCA386301945GNPTABc.1349G>C (p.Gly450Ala)
n.8G>C
c.1268G>C (p.Gly423Ala)
c.1133G>C (p.Gly378Ala)
c.122G>C (p.Gly41Ala)
12g.101768096C>TCA386301946GNPTABc.1349G>A (p.Gly450Asp)
n.8G>A
c.1268G>A (p.Gly423Asp)
c.1133G>A (p.Gly378Asp)
c.122G>A (p.Gly41Asp)
12g.101768097C>ACA386301948GNPTABc.1348G>T (p.Gly450Cys)
n.7G>T
c.1267G>T (p.Gly423Cys)
c.1132G>T (p.Gly378Cys)
c.121G>T (p.Gly41Cys)
12g.101768097C>GCA386301949GNPTABc.1348G>C (p.Gly450Arg)
n.7G>C
c.1267G>C (p.Gly423Arg)
c.1132G>C (p.Gly378Arg)
c.121G>C (p.Gly41Arg)
12g.101768097C>TCA386301950GNPTABc.1348G>A (p.Gly450Ser)
n.7G>A
c.1267G>A (p.Gly423Ser)
c.1132G>A (p.Gly378Ser)
c.121G>A (p.Gly41Ser)
12g.101768098A>CCA386301951GNPTABc.1347T>G (p.Asp449Glu)
n.6T>G
c.1266T>G (p.Asp422Glu)
c.1131T>G (p.Asp377Glu)
c.120T>G (p.Asp40Glu)
12g.101768098A>GCA481320489GNPTABc.1347T>C (p.Asp449=)
n.6T>C
c.1266T>C (p.Asp422=)
c.1131T>C (p.Asp377=)
c.120T>C (p.Asp40=)
12g.101768098A>TCA386301952GNPTABc.1347T>A (p.Asp449Glu)
n.6T>A
c.1266T>A (p.Asp422Glu)
c.1131T>A (p.Asp377Glu)
c.120T>A (p.Asp40Glu)
12g.101768099T>ACA386301953GNPTABc.1346A>T (p.Asp449Val)
n.5A>T
c.1265A>T (p.Asp422Val)
c.1130A>T (p.Asp377Val)
c.119A>T (p.Asp40Val)
 gnomAD v4
12g.101768099T>CCA386301955GNPTABc.1346A>G (p.Asp449Gly)
n.5A>G
c.1265A>G (p.Asp422Gly)
c.1130A>G (p.Asp377Gly)
c.119A>G (p.Asp40Gly)
12g.101768099T>GCA386301954GNPTABc.1346A>C (p.Asp449Ala)
n.5A>C
c.1265A>C (p.Asp422Ala)
c.1130A>C (p.Asp377Ala)
c.119A>C (p.Asp40Ala)
12g.101768099_101768100delinsTCCA2058956983GNPTABc.1345_1346delinsGA (p.Asp449=)
n.4_5delinsGA
c.1264_1265delinsGA (p.Asp422=)
c.1129_1130delinsGA (p.Asp377=)
c.118_119delinsGA (p.Asp40=)
12g.101768100C>ACA386301956GNPTABc.1345G>T (p.Asp449Tyr)
n.4G>T
c.1264G>T (p.Asp422Tyr)
c.1129G>T (p.Asp377Tyr)
c.118G>T (p.Asp40Tyr)
12g.101768100C>GCA386301957GNPTABc.1345G>C (p.Asp449His)
n.4G>C
c.1264G>C (p.Asp422His)
c.1129G>C (p.Asp377His)
c.118G>C (p.Asp40His)
12g.101768100C>TCA386301958GNPTABc.1345G>A (p.Asp449Asn)
n.4G>A
c.1264G>A (p.Asp422Asn)
c.1129G>A (p.Asp377Asn)
c.118G>A (p.Asp40Asn)
12g.101768101delCA607597966GNPTABc.1345del (p.Asp449MetfsTer?)
c.1345del (p.Asp449MetfsTer26)
n.4del
c.1264del (p.Asp422MetfsTer?)
c.1129del (p.Asp377MetfsTer?)
c.118del (p.Asp40MetfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101768101C>ACA386301959GNPTABc.1344G>T (p.Lys448Asn)
n.3G>T
c.1263G>T (p.Lys421Asn)
c.1128G>T (p.Lys376Asn)
c.117G>T (p.Lys39Asn)
 dbSNP
12g.101768101C=CA2058956984GNPTABc.1344G= (p.Lys448=)
n.3G=
c.1263G= (p.Lys421=)
c.1128G= (p.Lys376=)
c.117G= (p.Lys39=)
12g.101768101C>GCA386301960GNPTABc.1344G>C (p.Lys448Asn)
n.3G>C
c.1263G>C (p.Lys421Asn)
c.1128G>C (p.Lys376Asn)
c.117G>C (p.Lys39Asn)
12g.101768101C>TCA481320496GNPTABc.1344G>A (p.Lys448=)
n.3G>A
c.1263G>A (p.Lys421=)
c.1128G>A (p.Lys376=)
c.117G>A (p.Lys39=)
12g.101768102T>ACA386301961GNPTABc.1343A>T (p.Lys448Met)
n.2A>T
c.1262A>T (p.Lys421Met)
c.1127A>T (p.Lys376Met)
c.116A>T (p.Lys39Met)
12g.101768102T>CCA386301962GNPTABc.1343A>G (p.Lys448Arg)
n.2A>G
c.1262A>G (p.Lys421Arg)
c.1127A>G (p.Lys376Arg)
c.116A>G (p.Lys39Arg)
12g.101768102T>GCA386301963GNPTABc.1343A>C (p.Lys448Thr)
n.2A>C
c.1262A>C (p.Lys421Thr)
c.1127A>C (p.Lys376Thr)
c.116A>C (p.Lys39Thr)
12g.101768103T>ACA386301964GNPTABc.1342A>T (p.Lys448Ter)
n.1A>T
c.1261A>T (p.Lys421Ter)
c.1126A>T (p.Lys376Ter)
c.115A>T (p.Lys39Ter)
 ClinVar
12g.101768103T>CCA386301965GNPTABc.1342A>G (p.Lys448Glu)
n.1A>G
c.1261A>G (p.Lys421Glu)
c.1126A>G (p.Lys376Glu)
c.115A>G (p.Lys39Glu)
12g.101768103T>GCA386301966GNPTABc.1342A>C (p.Lys448Gln)
n.1A>C
c.1261A>C (p.Lys421Gln)
c.1126A>C (p.Lys376Gln)
c.115A>C (p.Lys39Gln)
12g.101768104A>CCA386301967GNPTABc.1341T>G (p.Ile447Met)
c.1260T>G (p.Ile420Met)
c.1125T>G (p.Ile375Met)
c.114T>G (p.Ile38Met)
12g.101768104A>GCA481320498GNPTABc.1341T>C (p.Ile447=)
c.1260T>C (p.Ile420=)
c.1125T>C (p.Ile375=)
c.114T>C (p.Ile38=)
12g.101768104A>TCA481320499GNPTABc.1341T>A (p.Ile447=)
c.1260T>A (p.Ile420=)
c.1125T>A (p.Ile375=)
c.114T>A (p.Ile38=)
12g.101768105A=CA2058956985GNPTABc.1340T= (p.Ile447=)
c.1259T= (p.Ile420=)
c.1124T= (p.Ile375=)
c.113T= (p.Ile38=)
12g.101768105A>CCA386301968GNPTABc.1340T>G (p.Ile447Ser)
c.1259T>G (p.Ile420Ser)
c.1124T>G (p.Ile375Ser)
c.113T>G (p.Ile38Ser)
12g.101768105A>GCA6746650GNPTABc.1340T>C (p.Ile447Thr)
c.1259T>C (p.Ile420Thr)
c.1124T>C (p.Ile375Thr)
c.113T>C (p.Ile38Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101768105A>TCA386301969GNPTABc.1340T>A (p.Ile447Asn)
c.1259T>A (p.Ile420Asn)
c.1124T>A (p.Ile375Asn)
c.113T>A (p.Ile38Asn)
12g.101768106T>ACA386301970GNPTABc.1339A>T (p.Ile447Phe)
c.1258A>T (p.Ile420Phe)
c.1123A>T (p.Ile375Phe)
c.112A>T (p.Ile38Phe)
12g.101768106T>CCA386301972GNPTABc.1339A>G (p.Ile447Val)
c.1258A>G (p.Ile420Val)
c.1123A>G (p.Ile375Val)
c.112A>G (p.Ile38Val)
12g.101768106T>GCA386301971GNPTABc.1339A>C (p.Ile447Leu)
c.1258A>C (p.Ile420Leu)
c.1123A>C (p.Ile375Leu)
c.112A>C (p.Ile38Leu)
12g.101768107C>ACA386301973GNPTABc.1338G>T (p.Trp446Cys)
c.1257G>T (p.Trp419Cys)
c.1122G>T (p.Trp374Cys)
c.111G>T (p.Trp37Cys)
12g.101768107C>GCA386301975GNPTABc.1338G>C (p.Trp446Cys)
c.1257G>C (p.Trp419Cys)
c.1122G>C (p.Trp374Cys)
c.111G>C (p.Trp37Cys)
12g.101768107C>TCA386301974GNPTABc.1338G>A (p.Trp446Ter)
c.1257G>A (p.Trp419Ter)
c.1122G>A (p.Trp374Ter)
c.111G>A (p.Trp37Ter)
12g.101768108C>ACA386301976GNPTABc.1337G>T (p.Trp446Leu)
c.1256G>T (p.Trp419Leu)
c.1121G>T (p.Trp374Leu)
c.110G>T (p.Trp37Leu)
12g.101768108C>GCA386301977GNPTABc.1337G>C (p.Trp446Ser)
c.1256G>C (p.Trp419Ser)
c.1121G>C (p.Trp374Ser)
c.110G>C (p.Trp37Ser)
12g.101768108C>TCA386301978GNPTABc.1337G>A (p.Trp446Ter)
c.1256G>A (p.Trp419Ter)
c.1121G>A (p.Trp374Ter)
c.110G>A (p.Trp37Ter)
 gnomAD v4
12g.101768109A>CCA386301979GNPTABc.1336T>G (p.Trp446Gly)
c.1255T>G (p.Trp419Gly)
c.1120T>G (p.Trp374Gly)
c.109T>G (p.Trp37Gly)
12g.101768109A>GCA386301980GNPTABc.1336T>C (p.Trp446Arg)
c.1255T>C (p.Trp419Arg)
c.1120T>C (p.Trp374Arg)
c.109T>C (p.Trp37Arg)
12g.101768109A>TCA386301981GNPTABc.1336T>A (p.Trp446Arg)
c.1255T>A (p.Trp419Arg)
c.1120T>A (p.Trp374Arg)
c.109T>A (p.Trp37Arg)
12g.101768110G>ACA481320510GNPTABc.1335C>T (p.Ser445=)
c.1254C>T (p.Ser418=)
c.1119C>T (p.Ser373=)
c.108C>T (p.Ser36=)
 ClinVar
12g.101768110G>CCA481320511GNPTABc.1335C>G (p.Ser445=)
c.1254C>G (p.Ser418=)
c.1119C>G (p.Ser373=)
c.108C>G (p.Ser36=)
12g.101768110G>TCA481320512GNPTABc.1335C>A (p.Ser445=)
c.1254C>A (p.Ser418=)
c.1119C>A (p.Ser373=)
c.108C>A (p.Ser36=)
12g.101768111G>ACA242461268GNPTABc.1334C>T (p.Ser445Phe)
c.1253C>T (p.Ser418Phe)
c.1118C>T (p.Ser373Phe)
c.107C>T (p.Ser36Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.101768111G>CCA6746651GNPTABc.1334C>G (p.Ser445Cys)
c.1253C>G (p.Ser418Cys)
c.1118C>G (p.Ser373Cys)
c.107C>G (p.Ser36Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101768111G=CA2058956986GNPTABc.1334C= (p.Ser445=)
c.1253C= (p.Ser418=)
c.1118C= (p.Ser373=)
c.107C= (p.Ser36=)
12g.101768111G>TCA386301982GNPTABc.1334C>A (p.Ser445Tyr)
c.1253C>A (p.Ser418Tyr)
c.1118C>A (p.Ser373Tyr)
c.107C>A (p.Ser36Tyr)
12g.101768112A=CA2058956987GNPTABc.1333T= (p.Ser445=)
c.1252T= (p.Ser418=)
c.1117T= (p.Ser373=)
c.106T= (p.Ser36=)
12g.101768112A>CCA386301983GNPTABc.1333T>G (p.Ser445Ala)
c.1252T>G (p.Ser418Ala)
c.1117T>G (p.Ser373Ala)
c.106T>G (p.Ser36Ala)
 gnomAD v4
12g.101768112A>GCA242461273GNPTABc.1333T>C (p.Ser445Pro)
c.1252T>C (p.Ser418Pro)
c.1117T>C (p.Ser373Pro)
c.106T>C (p.Ser36Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101768112A>TCA386301984GNPTABc.1333T>A (p.Ser445Thr)
c.1252T>A (p.Ser418Thr)
c.1117T>A (p.Ser373Thr)
c.106T>A (p.Ser36Thr)
12g.101768113A=CA2058956988GNPTABc.1332T= (p.Gly444=)
c.1251T= (p.Gly417=)
c.1116T= (p.Gly372=)
c.105T= (p.Gly35=)
12g.101768113A>CCA481320514GNPTABc.1332T>G (p.Gly444=)
c.1251T>G (p.Gly417=)
c.1116T>G (p.Gly372=)
c.105T>G (p.Gly35=)
12g.101768113A>GCA481320515GNPTABc.1332T>C (p.Gly444=)
c.1251T>C (p.Gly417=)
c.1116T>C (p.Gly372=)
c.105T>C (p.Gly35=)
12g.101768113A>TCA481320516GNPTABc.1332T>A (p.Gly444=)
c.1251T>A (p.Gly417=)
c.1116T>A (p.Gly372=)
c.105T>A (p.Gly35=)
12g.101768114C>ACA386301985GNPTABc.1331G>T (p.Gly444Val)
c.1250G>T (p.Gly417Val)
c.1115G>T (p.Gly372Val)
c.104G>T (p.Gly35Val)
 gnomAD v4
12g.101768114C>GCA386301987GNPTABc.1331G>C (p.Gly444Ala)
c.1250G>C (p.Gly417Ala)
c.1115G>C (p.Gly372Ala)
c.104G>C (p.Gly35Ala)
12g.101768114C>TCA386301986GNPTABc.1331G>A (p.Gly444Asp)
c.1250G>A (p.Gly417Asp)
c.1115G>A (p.Gly372Asp)
c.104G>A (p.Gly35Asp)
12g.101768115dupCA343344GNPTABc.1331dup (p.Ser445PhefsTer4)
c.1250dup (p.Ser418PhefsTer4)
c.1115dup (p.Ser373PhefsTer4)
c.104dup (p.Ser36PhefsTer4)
 ClinVar dbSNP gnomAD v4
12g.101768115C>ACA386301988GNPTABc.1330G>T (p.Gly444Cys)
c.1249G>T (p.Gly417Cys)
c.1114G>T (p.Gly372Cys)
c.103G>T (p.Gly35Cys)
12g.101768115C>GCA386301989GNPTABc.1330G>C (p.Gly444Arg)
c.1249G>C (p.Gly417Arg)
c.1114G>C (p.Gly372Arg)
c.103G>C (p.Gly35Arg)
12g.101768115C>TCA386301990GNPTABc.1330G>A (p.Gly444Ser)
c.1249G>A (p.Gly417Ser)
c.1114G>A (p.Gly372Ser)
c.103G>A (p.Gly35Ser)
12g.101768116T>ACA481320523GNPTABc.1329A>T (p.Pro443=)
c.1248A>T (p.Pro416=)
c.1113A>T (p.Pro371=)
c.102A>T (p.Pro34=)
12g.101768116T>CCA242461281GNPTABc.1329A>G (p.Pro443=)
c.1248A>G (p.Pro416=)
c.1113A>G (p.Pro371=)
c.102A>G (p.Pro34=)
 ClinVar dbSNP gnomAD v4
12g.101768116T>GCA481320524GNPTABc.1329A>C (p.Pro443=)
c.1248A>C (p.Pro416=)
c.1113A>C (p.Pro371=)
c.102A>C (p.Pro34=)
12g.101768116T=CA2058956989GNPTABc.1329A= (p.Pro443=)
c.1248A= (p.Pro416=)
c.1113A= (p.Pro371=)
c.102A= (p.Pro34=)
12g.101768117G>ACA386301991GNPTABc.1328C>T (p.Pro443Leu)
c.1247C>T (p.Pro416Leu)
c.1112C>T (p.Pro371Leu)
c.101C>T (p.Pro34Leu)
 gnomAD v4
12g.101768117G>CCA386301992GNPTABc.1328C>G (p.Pro443Arg)
c.1247C>G (p.Pro416Arg)
c.1112C>G (p.Pro371Arg)
c.101C>G (p.Pro34Arg)
12g.101768117G>TCA386301993GNPTABc.1328C>A (p.Pro443Gln)
c.1247C>A (p.Pro416Gln)
c.1112C>A (p.Pro371Gln)
c.101C>A (p.Pro34Gln)
12g.101768118G>ACA386301994GNPTABc.1327C>T (p.Pro443Ser)
c.1246C>T (p.Pro416Ser)
c.1111C>T (p.Pro371Ser)
c.100C>T (p.Pro34Ser)
12g.101768118G>CCA386301995GNPTABc.1327C>G (p.Pro443Ala)
c.1246C>G (p.Pro416Ala)
c.1111C>G (p.Pro371Ala)
c.100C>G (p.Pro34Ala)
12g.101768118G>TCA386301996GNPTABc.1327C>A (p.Pro443Thr)
c.1246C>A (p.Pro416Thr)
c.1111C>A (p.Pro371Thr)
c.100C>A (p.Pro34Thr)
12g.101768119G>ACA481320530GNPTABc.1326C>T (p.Cys442=)
c.1245C>T (p.Cys415=)
c.1110C>T (p.Cys370=)
c.99C>T (p.Cys33=)
12g.101768119G>CCA386301997GNPTABc.1326C>G (p.Cys442Trp)
c.1245C>G (p.Cys415Trp)
c.1110C>G (p.Cys370Trp)
c.99C>G (p.Cys33Trp)
12g.101768119G>TCA386301998GNPTABc.1326C>A (p.Cys442Ter)
c.1245C>A (p.Cys415Ter)
c.1110C>A (p.Cys370Ter)
c.99C>A (p.Cys33Ter)
12g.101768120C>ACA386301999GNPTABc.1325G>T (p.Cys442Phe)
c.1244G>T (p.Cys415Phe)
c.1109G>T (p.Cys370Phe)
c.98G>T (p.Cys33Phe)
12g.101768120C=CA2058956990GNPTABc.1325G= (p.Cys442=)
c.1244G= (p.Cys415=)
c.1109G= (p.Cys370=)
c.98G= (p.Cys33=)
12g.101768120C>GCA386302000GNPTABc.1325G>C (p.Cys442Ser)
c.1244G>C (p.Cys415Ser)
c.1109G>C (p.Cys370Ser)
c.98G>C (p.Cys33Ser)
12g.101768120C>TCA343343GNPTABc.1325G>A (p.Cys442Tyr)
c.1244G>A (p.Cys415Tyr)
c.1109G>A (p.Cys370Tyr)
c.98G>A (p.Cys33Tyr)
 ClinVar dbSNP
12g.101768121A>CCA386302001GNPTABc.1324T>G (p.Cys442Gly)
c.1243T>G (p.Cys415Gly)
c.1108T>G (p.Cys370Gly)
c.97T>G (p.Cys33Gly)
12g.101768121A>GCA386302002GNPTABc.1324T>C (p.Cys442Arg)
c.1243T>C (p.Cys415Arg)
c.1108T>C (p.Cys370Arg)
c.97T>C (p.Cys33Arg)
12g.101768121A>TCA386302003GNPTABc.1324T>A (p.Cys442Ser)
c.1243T>A (p.Cys415Ser)
c.1108T>A (p.Cys370Ser)
c.97T>A (p.Cys33Ser)
12g.101768122G>ACA481320534GNPTABc.1323C>T (p.Gly441=)
c.1242C>T (p.Gly414=)
c.1107C>T (p.Gly369=)
c.96C>T (p.Gly32=)
12g.101768122G>CCA481320535GNPTABc.1323C>G (p.Gly441=)
c.1242C>G (p.Gly414=)
c.1107C>G (p.Gly369=)
c.96C>G (p.Gly32=)
12g.101768122G>TCA481320536GNPTABc.1323C>A (p.Gly441=)
c.1242C>A (p.Gly414=)
c.1107C>A (p.Gly369=)
c.96C>A (p.Gly32=)
12g.101768123C>ACA386302004GNPTABc.1322G>T (p.Gly441Val)
c.1241G>T (p.Gly414Val)
c.1106G>T (p.Gly369Val)
c.95G>T (p.Gly32Val)
 gnomAD v4
12g.101768123C>GCA386302005GNPTABc.1322G>C (p.Gly441Ala)
c.1241G>C (p.Gly414Ala)
c.1106G>C (p.Gly369Ala)
c.95G>C (p.Gly32Ala)
12g.101768123C>TCA386302006GNPTABc.1322G>A (p.Gly441Asp)
c.1241G>A (p.Gly414Asp)
c.1106G>A (p.Gly369Asp)
c.95G>A (p.Gly32Asp)
12g.101768124C>ACA386302007GNPTABc.1321G>T (p.Gly441Cys)
c.1240G>T (p.Gly414Cys)
c.1105G>T (p.Gly369Cys)
c.94G>T (p.Gly32Cys)
12g.101768124C>GCA386302008GNPTABc.1321G>C (p.Gly441Arg)
c.1240G>C (p.Gly414Arg)
c.1105G>C (p.Gly369Arg)
c.94G>C (p.Gly32Arg)
12g.101768124C>TCA386302009GNPTABc.1321G>A (p.Gly441Ser)
c.1240G>A (p.Gly414Ser)
c.1105G>A (p.Gly369Ser)
c.94G>A (p.Gly32Ser)
12g.101768125C>ACA386302011GNPTABc.1320G>T (p.Glu440Asp)
c.1239G>T (p.Glu413Asp)
c.1104G>T (p.Glu368Asp)
c.93G>T (p.Glu31Asp)
12g.101768125C>GCA386302010GNPTABc.1320G>C (p.Glu440Asp)
c.1239G>C (p.Glu413Asp)
c.1104G>C (p.Glu368Asp)
c.93G>C (p.Glu31Asp)
12g.101768125C>TCA481320545GNPTABc.1320G>A (p.Glu440=)
c.1239G>A (p.Glu413=)
c.1104G>A (p.Glu368=)
c.93G>A (p.Glu31=)
12g.101768126T>ACA386302012GNPTABc.1319A>T (p.Glu440Val)
c.1238A>T (p.Glu413Val)
c.1103A>T (p.Glu368Val)
c.92A>T (p.Glu31Val)
12g.101768126T>CCA386302013GNPTABc.1319A>G (p.Glu440Gly)
c.1238A>G (p.Glu413Gly)
c.1103A>G (p.Glu368Gly)
c.92A>G (p.Glu31Gly)
12g.101768126T>GCA386302015GNPTABc.1319A>C (p.Glu440Ala)
c.1238A>C (p.Glu413Ala)
c.1103A>C (p.Glu368Ala)
c.92A>C (p.Glu31Ala)
12g.101768127C>ACA386302016GNPTABc.1318G>T (p.Glu440Ter)
c.1237G>T (p.Glu413Ter)
c.1102G>T (p.Glu368Ter)
c.91G>T (p.Glu31Ter)
12g.101768127C=CA2058956991GNPTABc.1318G= (p.Glu440=)
c.1237G= (p.Glu413=)
c.1102G= (p.Glu368=)
c.91G= (p.Glu31=)
12g.101768127C>GCA386302017GNPTABc.1318G>C (p.Glu440Gln)
c.1237G>C (p.Glu413Gln)
c.1102G>C (p.Glu368Gln)
c.91G>C (p.Glu31Gln)
12g.101768127C>TCA386302018GNPTABc.1318G>A (p.Glu440Lys)
c.1237G>A (p.Glu413Lys)
c.1102G>A (p.Glu368Lys)
c.91G>A (p.Glu31Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101768128G>ACA6746652GNPTABc.1317C>T (p.Ala439=)
c.1236C>T (p.Ala412=)
c.1101C>T (p.Ala367=)
c.90C>T (p.Ala30=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101768128G>CCA481320550GNPTABc.1317C>G (p.Ala439=)
c.1236C>G (p.Ala412=)
c.1101C>G (p.Ala367=)
c.90C>G (p.Ala30=)
12g.101768128G=CA2058956992GNPTABc.1317C= (p.Ala439=)
c.1236C= (p.Ala412=)
c.1101C= (p.Ala367=)
c.90C= (p.Ala30=)
12g.101768128G>TCA481320548GNPTABc.1317C>A (p.Ala439=)
c.1236C>A (p.Ala412=)
c.1101C>A (p.Ala367=)
c.90C>A (p.Ala30=)
12g.101768129G>ACA386302019GNPTABc.1316C>T (p.Ala439Val)
c.1235C>T (p.Ala412Val)
c.1100C>T (p.Ala367Val)
c.89C>T (p.Ala30Val)
12g.101768129G>CCA386302020GNPTABc.1316C>G (p.Ala439Gly)
c.1235C>G (p.Ala412Gly)
c.1100C>G (p.Ala367Gly)
c.89C>G (p.Ala30Gly)
12g.101768129G>TCA386302021GNPTABc.1316C>A (p.Ala439Asp)
c.1235C>A (p.Ala412Asp)
c.1100C>A (p.Ala367Asp)
c.89C>A (p.Ala30Asp)
12g.101768130C>ACA386302023GNPTABc.1315G>T (p.Ala439Ser)
c.1234G>T (p.Ala412Ser)
c.1099G>T (p.Ala367Ser)
c.88G>T (p.Ala30Ser)
12g.101768130C>GCA386302024GNPTABc.1315G>C (p.Ala439Pro)
c.1234G>C (p.Ala412Pro)
c.1099G>C (p.Ala367Pro)
c.88G>C (p.Ala30Pro)
12g.101768130C>TCA386302025GNPTABc.1315G>A (p.Ala439Thr)
c.1234G>A (p.Ala412Thr)
c.1099G>A (p.Ala367Thr)
c.88G>A (p.Ala30Thr)
 gnomAD v4
12g.101768132_101768133delCA2620450466GNPTABc.1314_1315del (p.Ala439ArgfsTer9)
c.1233_1234del (p.Ala412ArgfsTer9)
c.1098_1099del (p.Ala367ArgfsTer9)
c.87_88del (p.Ala30ArgfsTer9)
 gnomAD v4

Number of alleles fetched