Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.39067163T>CCA2624640035SEC23Ac.1227+10A>G (n.1227+10A>G)
c.621+10A>G (n.621+10A>G)
c.1140+10A>G (n.1140+10A>G)
n.39+10A>G
 gnomAD v4
14g.39067164G>ACA705581491SEC23Ac.1227+9C>T (n.1227+9C>T)
c.621+9C>T (n.621+9C>T)
c.1140+9C>T (n.1140+9C>T)
n.39+9C>T
 dbSNP gnomAD v3 gnomAD v4
14g.39067164G>CCA2624640037SEC23Ac.1227+9C>G (n.1227+9C>G)
c.621+9C>G (n.621+9C>G)
c.1140+9C>G (n.1140+9C>G)
n.39+9C>G
 gnomAD v4
14g.39067164G=CA2130612044SEC23Ac.1227+9C= (n.1227+9C=)
c.621+9C= (n.621+9C=)
c.1140+9C= (n.1140+9C=)
n.39+9C=
14g.39067164G>TCA613543104SEC23Ac.1227+9C>A (n.1227+9C>A)
c.621+9C>A (n.621+9C>A)
c.1140+9C>A (n.1140+9C>A)
n.39+9C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.39067165G>ACA7161916SEC23Ac.1227+8C>T (n.1227+8C>T)
c.621+8C>T (n.621+8C>T)
c.1140+8C>T (n.1140+8C>T)
n.39+8C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.39067165G=CA2130612047SEC23Ac.1227+8C= (n.1227+8C=)
c.621+8C= (n.621+8C=)
c.1140+8C= (n.1140+8C=)
n.39+8C=
14g.39067166T>CCA2801261262SEC23Ac.1227+7A>G (n.1227+7A>G)
c.621+7A>G (n.621+7A>G)
c.1140+7A>G (n.1140+7A>G)
n.39+7A>G
14g.39067168C=CA2130612050SEC23Ac.1227+5G= (n.1227+5G=)
c.621+5G= (n.621+5G=)
c.1140+5G= (n.1140+5G=)
n.39+5G=
14g.39067168C>TCA962191660SEC23Ac.1227+5G>A (n.1227+5G>A)
c.621+5G>A (n.621+5G>A)
c.1140+5G>A (n.1140+5G>A)
n.39+5G>A
 dbSNP gnomAD v3 gnomAD v4
14g.39067169T>GCA2130612052SEC23Ac.1227+4A>C (n.1227+4A>C)
c.621+4A>C (n.621+4A>C)
c.1140+4A>C (n.1140+4A>C)
n.39+4A>C
 dbSNP gnomAD v4
14g.39067169T=CA2130612051SEC23Ac.1227+4A= (n.1227+4A=)
c.621+4A= (n.621+4A=)
c.1140+4A= (n.1140+4A=)
n.39+4A=
14g.39067170T>CCA7161917SEC23Ac.1227+3A>G (n.1227+3A>G)
c.621+3A>G (n.621+3A>G)
c.1140+3A>G (n.1140+3A>G)
n.39+3A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067170T=CA2130612053SEC23Ac.1227+3A= (n.1227+3A=)
c.621+3A= (n.621+3A=)
c.1140+3A= (n.1140+3A=)
n.39+3A=
14g.39067171A=CA2130612060SEC23Ac.1227+2T= (n.1227+2T=)
c.621+2T= (n.621+2T=)
c.1140+2T= (n.1140+2T=)
n.39+2T=
14g.39067171A>CCA7161918SEC23Ac.1227+2T>G (n.1227+2T>G)
c.621+2T>G (n.621+2T>G)
c.1140+2T>G (n.1140+2T>G)
n.39+2T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.39067171A>GCA389535063SEC23Ac.1227+2T>C (n.1227+2T>C)
c.621+2T>C (n.621+2T>C)
c.1140+2T>C (n.1140+2T>C)
n.39+2T>C
14g.39067171A>TCA389535064SEC23Ac.1227+2T>A (n.1227+2T>A)
c.621+2T>A (n.621+2T>A)
c.1140+2T>A (n.1140+2T>A)
n.39+2T>A
14g.39067172C>ACA389535065SEC23Ac.1227+1G>T (n.1227+1G>T)
c.621+1G>T (n.621+1G>T)
c.1140+1G>T (n.1140+1G>T)
n.39+1G>T
14g.39067172C>GCA389535066SEC23Ac.1227+1G>C (n.1227+1G>C)
c.621+1G>C (n.621+1G>C)
c.1140+1G>C (n.1140+1G>C)
n.39+1G>C
 gnomAD v4
14g.39067172C>TCA389535067SEC23Ac.1227+1G>A (n.1227+1G>A)
c.621+1G>A (n.621+1G>A)
c.1140+1G>A (n.1140+1G>A)
n.39+1G>A
14g.39067173C>ACA389535068SEC23Ac.1227G>T (p.Lys409Asn)
c.621G>T (p.Lys207Asn)
c.1140G>T (p.Lys380Asn)
n.39G>T
14g.39067173C>GCA389535069SEC23Ac.1227G>C (p.Lys409Asn)
c.621G>C (p.Lys207Asn)
c.1140G>C (p.Lys380Asn)
n.39G>C
14g.39067173C>TCA486103552SEC23Ac.1227G>A (p.Lys409=)
c.621G>A (p.Lys207=)
c.1140G>A (p.Lys380=)
n.39G>A
14g.39067174T>ACA389535070SEC23Ac.1226A>T (p.Lys409Met)
c.620A>T (p.Lys207Met)
c.1139A>T (p.Lys380Met)
n.38A>T
14g.39067174T>CCA389535071SEC23Ac.1226A>G (p.Lys409Arg)
c.620A>G (p.Lys207Arg)
c.1139A>G (p.Lys380Arg)
n.38A>G
14g.39067174T>GCA389535072SEC23Ac.1226A>C (p.Lys409Thr)
c.620A>C (p.Lys207Thr)
c.1139A>C (p.Lys380Thr)
n.38A>C
14g.39067176delCA2801261263SEC23Ac.1226del (p.Lys409ArgfsTer6)
c.620del (p.Lys207ArgfsTer6)
c.1139del (p.Lys380ArgfsTer6)
n.38del
14g.39067175T>ACA389535073SEC23Ac.1225A>T (p.Lys409Ter)
c.619A>T (p.Lys207Ter)
c.1138A>T (p.Lys380Ter)
n.37A>T
14g.39067175T>CCA389535074SEC23Ac.1225A>G (p.Lys409Glu)
c.619A>G (p.Lys207Glu)
c.1138A>G (p.Lys380Glu)
n.37A>G
14g.39067175T>GCA389535075SEC23Ac.1225A>C (p.Lys409Gln)
c.619A>C (p.Lys207Gln)
c.1138A>C (p.Lys380Gln)
n.37A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.39067175T=CA2130612062SEC23Ac.1225A= (p.Lys409=)
c.619A= (p.Lys207=)
c.1138A= (p.Lys380=)
n.37A=
14g.39067176T>ACA486103553SEC23Ac.1224A>T (p.Ile408=)
c.618A>T (p.Ile206=)
c.1137A>T (p.Ile379=)
n.36A>T
14g.39067176T>CCA389535076SEC23Ac.1224A>G (p.Ile408Met)
c.618A>G (p.Ile206Met)
c.1137A>G (p.Ile379Met)
n.36A>G
14g.39067176T>GCA486103554SEC23Ac.1224A>C (p.Ile408=)
c.618A>C (p.Ile206=)
c.1137A>C (p.Ile379=)
n.36A>C
14g.39067177A>CCA389535077SEC23Ac.1223T>G (p.Ile408Arg)
c.617T>G (p.Ile206Arg)
c.1136T>G (p.Ile379Arg)
n.35T>G
14g.39067177A>GCA389535079SEC23Ac.1223T>C (p.Ile408Thr)
c.617T>C (p.Ile206Thr)
c.1136T>C (p.Ile379Thr)
n.35T>C
14g.39067177A>TCA389535078SEC23Ac.1223T>A (p.Ile408Lys)
c.617T>A (p.Ile206Lys)
c.1136T>A (p.Ile379Lys)
n.35T>A
14g.39067178T>ACA389535080SEC23Ac.1222A>T (p.Ile408Leu)
c.616A>T (p.Ile206Leu)
c.1135A>T (p.Ile379Leu)
n.34A>T
14g.39067178T>CCA389535081SEC23Ac.1222A>G (p.Ile408Val)
c.616A>G (p.Ile206Val)
c.1135A>G (p.Ile379Val)
n.34A>G
 dbSNP gnomAD v3 gnomAD v4
14g.39067178T>GCA389535082SEC23Ac.1222A>C (p.Ile408Leu)
c.616A>C (p.Ile206Leu)
c.1135A>C (p.Ile379Leu)
n.34A>C
14g.39067178T=CA2130612064SEC23Ac.1222A= (p.Ile408=)
c.616A= (p.Ile206=)
c.1135A= (p.Ile379=)
n.34A=
14g.39067179T>ACA389535083SEC23Ac.1221A>T (p.Glu407Asp)
c.615A>T (p.Glu205Asp)
c.1134A>T (p.Glu378Asp)
n.33A>T
14g.39067179T>CCA486103555SEC23Ac.1221A>G (p.Glu407=)
c.615A>G (p.Glu205=)
c.1134A>G (p.Glu378=)
n.33A>G
14g.39067179T>GCA389535084SEC23Ac.1221A>C (p.Glu407Asp)
c.615A>C (p.Glu205Asp)
c.1134A>C (p.Glu378Asp)
n.33A>C
14g.39067180T>ACA389535085SEC23Ac.1220A>T (p.Glu407Val)
c.614A>T (p.Glu205Val)
c.1133A>T (p.Glu378Val)
n.32A>T
14g.39067180T>CCA389535086SEC23Ac.1220A>G (p.Glu407Gly)
c.614A>G (p.Glu205Gly)
c.1133A>G (p.Glu378Gly)
n.32A>G
14g.39067180T>GCA389535087SEC23Ac.1220A>C (p.Glu407Ala)
c.614A>C (p.Glu205Ala)
c.1133A>C (p.Glu378Ala)
n.32A>C
14g.39067181C>ACA389535088SEC23Ac.1219G>T (p.Glu407Ter)
c.613G>T (p.Glu205Ter)
c.1132G>T (p.Glu378Ter)
n.31G>T
14g.39067181C>GCA389535089SEC23Ac.1219G>C (p.Glu407Gln)
c.613G>C (p.Glu205Gln)
c.1132G>C (p.Glu378Gln)
n.31G>C
14g.39067181C>TCA389535090SEC23Ac.1219G>A (p.Glu407Lys)
c.613G>A (p.Glu205Lys)
c.1132G>A (p.Glu378Lys)
n.31G>A
14g.39067182T>ACA486103556SEC23Ac.1218A>T (p.Leu406=)
c.612A>T (p.Leu204=)
c.1131A>T (p.Leu377=)
n.30A>T
14g.39067182T>CCA486103558SEC23Ac.1218A>G (p.Leu406=)
c.612A>G (p.Leu204=)
c.1131A>G (p.Leu377=)
n.30A>G
 gnomAD v4
14g.39067182T>GCA486103557SEC23Ac.1218A>C (p.Leu406=)
c.612A>C (p.Leu204=)
c.1131A>C (p.Leu377=)
n.30A>C
14g.39067183A=CA2130612065SEC23Ac.1217T= (p.Leu406=)
c.611T= (p.Leu204=)
c.1130T= (p.Leu377=)
n.29T=
14g.39067183A>CCA389535093SEC23Ac.1217T>G (p.Leu406Arg)
c.611T>G (p.Leu204Arg)
c.1130T>G (p.Leu377Arg)
n.29T>G
14g.39067183A>GCA389535092SEC23Ac.1217T>C (p.Leu406Pro)
c.611T>C (p.Leu204Pro)
c.1130T>C (p.Leu377Pro)
n.29T>C
 dbSNP gnomAD v2 gnomAD v4
14g.39067183A>TCA389535091SEC23Ac.1217T>A (p.Leu406Gln)
c.611T>A (p.Leu204Gln)
c.1130T>A (p.Leu377Gln)
n.29T>A
14g.39067184G>ACA486103559SEC23Ac.1216C>T (p.Leu406=)
c.610C>T (p.Leu204=)
c.1129C>T (p.Leu377=)
n.28C>T
14g.39067184G>CCA7161919SEC23Ac.1216C>G (p.Leu406Val)
c.610C>G (p.Leu204Val)
c.1129C>G (p.Leu377Val)
n.28C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067184G=CA2130612066SEC23Ac.1216C= (p.Leu406=)
c.610C= (p.Leu204=)
c.1129C= (p.Leu377=)
n.28C=
14g.39067184G>TCA389535094SEC23Ac.1216C>A (p.Leu406Ile)
c.610C>A (p.Leu204Ile)
c.1129C>A (p.Leu377Ile)
n.28C>A
14g.39067185C>ACA486103560SEC23Ac.1215G>T (p.Thr405=)
c.609G>T (p.Thr203=)
c.1128G>T (p.Thr376=)
n.27G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.39067185C=CA2130612068SEC23Ac.1215G= (p.Thr405=)
c.609G= (p.Thr203=)
c.1128G= (p.Thr376=)
n.27G=
14g.39067185C>GCA486103561SEC23Ac.1215G>C (p.Thr405=)
c.609G>C (p.Thr203=)
c.1128G>C (p.Thr376=)
n.27G>C
14g.39067185C>TCA7161920SEC23Ac.1215G>A (p.Thr405=)
c.609G>A (p.Thr203=)
c.1128G>A (p.Thr376=)
n.27G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.39067186G>ACA7161921SEC23Ac.1214C>T (p.Thr405Met)
c.608C>T (p.Thr203Met)
c.1127C>T (p.Thr376Met)
n.26C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.39067186G>CCA389535095SEC23Ac.1214C>G (p.Thr405Arg)
c.608C>G (p.Thr203Arg)
c.1127C>G (p.Thr376Arg)
n.26C>G
14g.39067186G=CA2130612069SEC23Ac.1214C= (p.Thr405=)
c.608C= (p.Thr203=)
c.1127C= (p.Thr376=)
n.26C=
14g.39067186G>TCA389535096SEC23Ac.1214C>A (p.Thr405Lys)
c.608C>A (p.Thr203Lys)
c.1127C>A (p.Thr376Lys)
n.26C>A
14g.39067187T>ACA389535097SEC23Ac.1213A>T (p.Thr405Ser)
c.607A>T (p.Thr203Ser)
c.1126A>T (p.Thr376Ser)
n.25A>T
 dbSNP gnomAD v2 gnomAD v4
14g.39067187T>CCA389535098SEC23Ac.1213A>G (p.Thr405Ala)
c.607A>G (p.Thr203Ala)
c.1126A>G (p.Thr376Ala)
n.25A>G
14g.39067187T>GCA389535099SEC23Ac.1213A>C (p.Thr405Pro)
c.607A>C (p.Thr203Pro)
c.1126A>C (p.Thr376Pro)
n.25A>C
14g.39067187T=CA2130612070SEC23Ac.1213A= (p.Thr405=)
c.607A= (p.Thr203=)
c.1126A= (p.Thr376=)
n.25A=
14g.39067188A>CCA486103564SEC23Ac.1212T>G (p.Gly404=)
c.606T>G (p.Gly202=)
c.1125T>G (p.Gly375=)
n.24T>G
14g.39067188A>GCA486103562SEC23Ac.1212T>C (p.Gly404=)
c.606T>C (p.Gly202=)
c.1125T>C (p.Gly375=)
n.24T>C
 gnomAD v4
14g.39067188A>TCA486103563SEC23Ac.1212T>A (p.Gly404=)
c.606T>A (p.Gly202=)
c.1125T>A (p.Gly375=)
n.24T>A
14g.39067189C>ACA389535100SEC23Ac.1211G>T (p.Gly404Val)
c.605G>T (p.Gly202Val)
c.1124G>T (p.Gly375Val)
n.23G>T
 dbSNP
14g.39067189C=CA2130612072SEC23Ac.1211G= (p.Gly404=)
c.605G= (p.Gly202=)
c.1124G= (p.Gly375=)
n.23G=
14g.39067189C>GCA389535101SEC23Ac.1211G>C (p.Gly404Ala)
c.605G>C (p.Gly202Ala)
c.1124G>C (p.Gly375Ala)
n.23G>C
 gnomAD v4
14g.39067189C>TCA389535102SEC23Ac.1211G>A (p.Gly404Asp)
c.605G>A (p.Gly202Asp)
c.1124G>A (p.Gly375Asp)
n.23G>A
14g.39067190C>ACA389535105SEC23Ac.1210G>T (p.Gly404Cys)
c.604G>T (p.Gly202Cys)
c.1123G>T (p.Gly375Cys)
n.22G>T
14g.39067190C>GCA389535104SEC23Ac.1210G>C (p.Gly404Arg)
c.604G>C (p.Gly202Arg)
c.1123G>C (p.Gly375Arg)
n.22G>C
14g.39067190C>TCA389535103SEC23Ac.1210G>A (p.Gly404Ser)
c.604G>A (p.Gly202Ser)
c.1123G>A (p.Gly375Ser)
n.22G>A
14g.39067191A=CA2130612074SEC23Ac.1209T= (p.Gly403=)
c.603T= (p.Gly201=)
c.1122T= (p.Gly374=)
n.21T=
14g.39067191A>CCA486103565SEC23Ac.1209T>G (p.Gly403=)
c.603T>G (p.Gly201=)
c.1122T>G (p.Gly374=)
n.21T>G
14g.39067191A>GCA7161922SEC23Ac.1209T>C (p.Gly403=)
c.603T>C (p.Gly201=)
c.1122T>C (p.Gly374=)
n.21T>C
 dbSNP ExAC gnomAD v2
14g.39067191A>TCA486103566SEC23Ac.1209T>A (p.Gly403=)
c.603T>A (p.Gly201=)
c.1122T>A (p.Gly374=)
n.21T>A
14g.39067192C>ACA389535108SEC23Ac.1208G>T (p.Gly403Val)
c.602G>T (p.Gly201Val)
c.1121G>T (p.Gly374Val)
n.20G>T
14g.39067192C>GCA389535106SEC23Ac.1208G>C (p.Gly403Ala)
c.602G>C (p.Gly201Ala)
c.1121G>C (p.Gly374Ala)
n.20G>C
14g.39067192C>TCA389535107SEC23Ac.1208G>A (p.Gly403Asp)
c.602G>A (p.Gly201Asp)
c.1121G>A (p.Gly374Asp)
n.20G>A
14g.39067193C>ACA389535109SEC23Ac.1207G>T (p.Gly403Cys)
c.601G>T (p.Gly201Cys)
c.1120G>T (p.Gly374Cys)
n.19G>T
 COSMIC
14g.39067193C>GCA389535110SEC23Ac.1207G>C (p.Gly403Arg)
c.601G>C (p.Gly201Arg)
c.1120G>C (p.Gly374Arg)
n.19G>C
14g.39067193C>TCA389535111SEC23Ac.1207G>A (p.Gly403Ser)
c.601G>A (p.Gly201Ser)
c.1120G>A (p.Gly374Ser)
n.19G>A
14g.39067194A>CCA389535112SEC23Ac.1206T>G (p.Phe402Leu)
c.600T>G (p.Phe200Leu)
c.1119T>G (p.Phe373Leu)
n.18T>G
14g.39067194A>GCA486103567SEC23Ac.1206T>C (p.Phe402=)
c.600T>C (p.Phe200=)
c.1119T>C (p.Phe373=)
n.18T>C
 gnomAD v4
14g.39067194A>TCA389535113SEC23Ac.1206T>A (p.Phe402Leu)
c.600T>A (p.Phe200Leu)
c.1119T>A (p.Phe373Leu)
n.18T>A
14g.39067195_39067196delCA2729497011SEC23Ac.1205_1206del (p.Phe402TrpfsTer27)
c.599_600del (p.Phe200TrpfsTer27)
c.1118_1119del (p.Phe373TrpfsTer27)
n.17_18del
 dbSNP
14g.39067195A>CCA389535114SEC23Ac.1205T>G (p.Phe402Cys)
c.599T>G (p.Phe200Cys)
c.1118T>G (p.Phe373Cys)
n.17T>G
14g.39067195A>GCA389535115SEC23Ac.1205T>C (p.Phe402Ser)
c.599T>C (p.Phe200Ser)
c.1118T>C (p.Phe373Ser)
n.17T>C
14g.39067195A>TCA389535116SEC23Ac.1205T>A (p.Phe402Tyr)
c.599T>A (p.Phe200Tyr)
c.1118T>A (p.Phe373Tyr)
n.17T>A
14g.39067196A=CA2130612077SEC23Ac.1204T= (p.Phe402=)
c.598T= (p.Phe200=)
c.1117T= (p.Phe373=)
n.16T=
14g.39067196A>CCA389535117SEC23Ac.1204T>G (p.Phe402Val)
c.598T>G (p.Phe200Val)
c.1117T>G (p.Phe373Val)
n.16T>G
14g.39067196A>GCA389535118SEC23Ac.1204T>C (p.Phe402Leu)
c.598T>C (p.Phe200Leu)
c.1117T>C (p.Phe373Leu)
n.16T>C
14g.39067196A>TCA389535119SEC23Ac.1204T>A (p.Phe402Ile)
c.598T>A (p.Phe200Ile)
c.1117T>A (p.Phe373Ile)
n.16T>A
 dbSNP
14g.39067197G>ACA486103568SEC23Ac.1203C>T (p.Gly401=)
c.597C>T (p.Gly199=)
c.1116C>T (p.Gly372=)
n.15C>T
14g.39067197G>CCA486103569SEC23Ac.1203C>G (p.Gly401=)
c.597C>G (p.Gly199=)
c.1116C>G (p.Gly372=)
n.15C>G
14g.39067197G>TCA486103570SEC23Ac.1203C>A (p.Gly401=)
c.597C>A (p.Gly199=)
c.1116C>A (p.Gly372=)
n.15C>A
14g.39067198C>ACA389535122SEC23Ac.1202G>T (p.Gly401Val)
c.596G>T (p.Gly199Val)
c.1115G>T (p.Gly372Val)
n.14G>T
14g.39067198C>GCA389535120SEC23Ac.1202G>C (p.Gly401Ala)
c.596G>C (p.Gly199Ala)
c.1115G>C (p.Gly372Ala)
n.14G>C
14g.39067198C>TCA389535121SEC23Ac.1202G>A (p.Gly401Asp)
c.596G>A (p.Gly199Asp)
c.1115G>A (p.Gly372Asp)
n.14G>A
14g.39067199C>ACA7161923SEC23Ac.1201G>T (p.Gly401Cys)
c.595G>T (p.Gly199Cys)
c.1114G>T (p.Gly372Cys)
n.13G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067199C=CA2130612081SEC23Ac.1201G= (p.Gly401=)
c.595G= (p.Gly199=)
c.1114G= (p.Gly372=)
n.13G=
14g.39067199C>GCA389535123SEC23Ac.1201G>C (p.Gly401Arg)
c.595G>C (p.Gly199Arg)
c.1114G>C (p.Gly372Arg)
n.13G>C
14g.39067199C>TCA389535124SEC23Ac.1201G>A (p.Gly401Ser)
c.595G>A (p.Gly199Ser)
c.1114G>A (p.Gly372Ser)
n.13G>A
14g.39067200C>ACA389535125SEC23Ac.1200G>T (p.Met400Ile)
c.594G>T (p.Met198Ile)
c.1113G>T (p.Met371Ile)
n.12G>T
14g.39067200C=CA2130612083SEC23Ac.1200G= (p.Met400=)
c.594G= (p.Met198=)
c.1113G= (p.Met371=)
n.12G=
14g.39067200C>GCA259543384SEC23Ac.1200G>C (p.Met400Ile)
c.594G>C (p.Met198Ile)
c.1113G>C (p.Met371Ile)
n.12G>C
 dbSNP
14g.39067200C>TCA389535126SEC23Ac.1200G>A (p.Met400Ile)
c.594G>A (p.Met198Ile)
c.1113G>A (p.Met371Ile)
n.12G>A
14g.39067201A=CA2130612086SEC23Ac.1199T= (p.Met400=)
c.593T= (p.Met198=)
c.1112T= (p.Met371=)
n.11T=
14g.39067201A>CCA389535127SEC23Ac.1199T>G (p.Met400Arg)
c.593T>G (p.Met198Arg)
c.1112T>G (p.Met371Arg)
n.11T>G
14g.39067201A>GCA7161924SEC23Ac.1199T>C (p.Met400Thr)
c.593T>C (p.Met198Thr)
c.1112T>C (p.Met371Thr)
n.11T>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.39067201A>TCA389535128SEC23Ac.1199T>A (p.Met400Lys)
c.593T>A (p.Met198Lys)
c.1112T>A (p.Met371Lys)
n.11T>A
 COSMIC
14g.39067202T>ACA389535129SEC23Ac.1198A>T (p.Met400Leu)
c.592A>T (p.Met198Leu)
c.1111A>T (p.Met371Leu)
n.10A>T
14g.39067202T>CCA389535130SEC23Ac.1198A>G (p.Met400Val)
c.592A>G (p.Met198Val)
c.1111A>G (p.Met371Val)
n.10A>G
14g.39067202T>GCA389535131SEC23Ac.1198A>C (p.Met400Leu)
c.592A>C (p.Met198Leu)
c.1111A>C (p.Met371Leu)
n.10A>C
14g.39067205delCA2575512134SEC23Ac.1198del (p.Met400TrpfsTer7)
c.592del (p.Met198TrpfsTer7)
c.1111del (p.Met371TrpfsTer7)
n.10del
14g.39067203T>ACA389535132SEC23Ac.1197A>T (p.Lys399Asn)
c.591A>T (p.Lys197Asn)
c.1110A>T (p.Lys370Asn)
n.9A>T
14g.39067203T>CCA486103571SEC23Ac.1197A>G (p.Lys399=)
c.591A>G (p.Lys197=)
c.1110A>G (p.Lys370=)
n.9A>G
14g.39067203T>GCA389535133SEC23Ac.1197A>C (p.Lys399Asn)
c.591A>C (p.Lys197Asn)
c.1110A>C (p.Lys370Asn)
n.9A>C
14g.39067204T>ACA389535134SEC23Ac.1196A>T (p.Lys399Ile)
c.590A>T (p.Lys197Ile)
c.1109A>T (p.Lys370Ile)
n.8A>T
14g.39067204T>CCA389535135SEC23Ac.1196A>G (p.Lys399Arg)
c.590A>G (p.Lys197Arg)
c.1109A>G (p.Lys370Arg)
n.8A>G
14g.39067204T>GCA389535136SEC23Ac.1196A>C (p.Lys399Thr)
c.590A>C (p.Lys197Thr)
c.1109A>C (p.Lys370Thr)
n.8A>C
14g.39067205T>ACA389535137SEC23Ac.1195A>T (p.Lys399Ter)
c.589A>T (p.Lys197Ter)
c.1108A>T (p.Lys370Ter)
n.7A>T
14g.39067205T>CCA389535138SEC23Ac.1195A>G (p.Lys399Glu)
c.589A>G (p.Lys197Glu)
c.1108A>G (p.Lys370Glu)
n.7A>G
 gnomAD v4
14g.39067205T>GCA389535139SEC23Ac.1195A>C (p.Lys399Gln)
c.589A>C (p.Lys197Gln)
c.1108A>C (p.Lys370Gln)
n.7A>C
14g.39067206A>CCA389535140SEC23Ac.1194T>G (p.Phe398Leu)
c.588T>G (p.Phe196Leu)
c.1107T>G (p.Phe369Leu)
n.6T>G
14g.39067206A>GCA486103572SEC23Ac.1194T>C (p.Phe398=)
c.588T>C (p.Phe196=)
c.1107T>C (p.Phe369=)
n.6T>C
14g.39067206A>TCA389535141SEC23Ac.1194T>A (p.Phe398Leu)
c.588T>A (p.Phe196Leu)
c.1107T>A (p.Phe369Leu)
n.6T>A
14g.39067207A>CCA389535142SEC23Ac.1193T>G (p.Phe398Cys)
c.587T>G (p.Phe196Cys)
c.1106T>G (p.Phe369Cys)
n.5T>G
14g.39067207A>GCA389535143SEC23Ac.1193T>C (p.Phe398Ser)
c.587T>C (p.Phe196Ser)
c.1106T>C (p.Phe369Ser)
n.5T>C
14g.39067207A>TCA389535144SEC23Ac.1193T>A (p.Phe398Tyr)
c.587T>A (p.Phe196Tyr)
c.1106T>A (p.Phe369Tyr)
n.5T>A
14g.39067208A>CCA389535145SEC23Ac.1192T>G (p.Phe398Val)
c.586T>G (p.Phe196Val)
c.1105T>G (p.Phe369Val)
n.4T>G
14g.39067208A>GCA389535146SEC23Ac.1192T>C (p.Phe398Leu)
c.586T>C (p.Phe196Leu)
c.1105T>C (p.Phe369Leu)
n.4T>C
14g.39067208A>TCA389535147SEC23Ac.1192T>A (p.Phe398Ile)
c.586T>A (p.Phe196Ile)
c.1105T>A (p.Phe369Ile)
n.4T>A
14g.39067209C>ACA389535148SEC23Ac.1191G>T (p.Gln397His)
c.585G>T (p.Gln195His)
c.1104G>T (p.Gln368His)
n.3G>T
14g.39067209C=CA2130612090SEC23Ac.1191G= (p.Gln397=)
c.585G= (p.Gln195=)
c.1104G= (p.Gln368=)
n.3G=
14g.39067209C>GCA389535149SEC23Ac.1191G>C (p.Gln397His)
c.585G>C (p.Gln195His)
c.1104G>C (p.Gln368His)
n.3G>C
 gnomAD v4
14g.39067209C>TCA486103573SEC23Ac.1191G>A (p.Gln397=)
c.585G>A (p.Gln195=)
c.1104G>A (p.Gln368=)
n.3G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.39067209_39067210delinsCTCA2130612089SEC23Ac.1190_1191delinsAG (p.Gln397=)
c.584_585delinsAG (p.Gln195=)
c.1103_1104delinsAG (p.Gln368=)
n.2_3delinsAG
14g.39067210delCA7161925SEC23Ac.1190del (p.Gln397ArgfsTer10)
c.584del (p.Gln195ArgfsTer10)
c.1103del (p.Gln368ArgfsTer10)
n.2del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067210T>ACA389535150SEC23Ac.1190A>T (p.Gln397Leu)
c.584A>T (p.Gln195Leu)
c.1103A>T (p.Gln368Leu)
n.2A>T
14g.39067210T>CCA389535151SEC23Ac.1190A>G (p.Gln397Arg)
c.584A>G (p.Gln195Arg)
c.1103A>G (p.Gln368Arg)
n.2A>G
 gnomAD v4
14g.39067210T>GCA389535152SEC23Ac.1190A>C (p.Gln397Pro)
c.584A>C (p.Gln195Pro)
c.1103A>C (p.Gln368Pro)
n.2A>C
14g.39067211G>ACA389535153SEC23Ac.1189C>T (p.Gln397Ter)
c.583C>T (p.Gln195Ter)
c.1102C>T (p.Gln368Ter)
n.1C>T
14g.39067211G>CCA389535154SEC23Ac.1189C>G (p.Gln397Glu)
c.583C>G (p.Gln195Glu)
c.1102C>G (p.Gln368Glu)
n.1C>G
 gnomAD v4
14g.39067211G>TCA389535155SEC23Ac.1189C>A (p.Gln397Lys)
c.583C>A (p.Gln195Lys)
c.1102C>A (p.Gln368Lys)
n.1C>A
14g.39067212T>ACA486103574SEC23Ac.1188A>T (p.Gly396=)
c.582A>T (p.Gly194=)
c.1101A>T (p.Gly367=)
14g.39067212T>CCA7161926SEC23Ac.1188A>G (p.Gly396=)
c.582A>G (p.Gly194=)
c.1101A>G (p.Gly367=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.39067212T>GCA486103575SEC23Ac.1188A>C (p.Gly396=)
c.582A>C (p.Gly194=)
c.1101A>C (p.Gly367=)
14g.39067212T=CA2130612094SEC23Ac.1188A= (p.Gly396=)
c.582A= (p.Gly194=)
c.1101A= (p.Gly367=)
14g.39067213C>ACA389535156SEC23Ac.1187G>T (p.Gly396Val)
c.581G>T (p.Gly194Val)
c.1100G>T (p.Gly367Val)
14g.39067213C=CA2130612097SEC23Ac.1187G= (p.Gly396=)
c.581G= (p.Gly194=)
c.1100G= (p.Gly367=)
14g.39067213C>GCA259543392SEC23Ac.1187G>C (p.Gly396Ala)
c.581G>C (p.Gly194Ala)
c.1100G>C (p.Gly367Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.39067213C>TCA389535157SEC23Ac.1187G>A (p.Gly396Glu)
c.581G>A (p.Gly194Glu)
c.1100G>A (p.Gly367Glu)
14g.39067214C>ACA389535160SEC23Ac.1186G>T (p.Gly396Ter)
c.580G>T (p.Gly194Ter)
c.1099G>T (p.Gly367Ter)
14g.39067214C>GCA389535159SEC23Ac.1186G>C (p.Gly396Arg)
c.580G>C (p.Gly194Arg)
c.1099G>C (p.Gly367Arg)
14g.39067214C>TCA389535158SEC23Ac.1186G>A (p.Gly396Arg)
c.580G>A (p.Gly194Arg)
c.1099G>A (p.Gly367Arg)
 COSMIC COSMIC
14g.39067215A=CA2130612099SEC23Ac.1185T= (p.His395=)
c.579T= (p.His193=)
c.1098T= (p.His366=)
14g.39067215A>CCA389535161SEC23Ac.1185T>G (p.His395Gln)
c.579T>G (p.His193Gln)
c.1098T>G (p.His366Gln)
14g.39067215A>GCA7161927SEC23Ac.1185T>C (p.His395=)
c.579T>C (p.His193=)
c.1098T>C (p.His366=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.39067215A>TCA389535162SEC23Ac.1185T>A (p.His395Gln)
c.579T>A (p.His193Gln)
c.1098T>A (p.His366Gln)
14g.39067216T>ACA389535163SEC23Ac.1184A>T (p.His395Leu)
c.578A>T (p.His193Leu)
c.1097A>T (p.His366Leu)
14g.39067216T>CCA389535165SEC23Ac.1184A>G (p.His395Arg)
c.578A>G (p.His193Arg)
c.1097A>G (p.His366Arg)
14g.39067216T>GCA389535164SEC23Ac.1184A>C (p.His395Pro)
c.578A>C (p.His193Pro)
c.1097A>C (p.His366Pro)
14g.39067217G>ACA389535166SEC23Ac.1183C>T (p.His395Tyr)
c.577C>T (p.His193Tyr)
c.1096C>T (p.His366Tyr)
14g.39067217G>CCA389535168SEC23Ac.1183C>G (p.His395Asp)
c.577C>G (p.His193Asp)
c.1096C>G (p.His366Asp)
14g.39067217G>TCA389535167SEC23Ac.1183C>A (p.His395Asn)
c.577C>A (p.His193Asn)
c.1096C>A (p.His366Asn)
14g.39067218C>ACA389535169SEC23Ac.1182G>T (p.Met394Ile)
c.576G>T (p.Met192Ile)
c.1095G>T (p.Met365Ile)
14g.39067218C>GCA389535170SEC23Ac.1182G>C (p.Met394Ile)
c.576G>C (p.Met192Ile)
c.1095G>C (p.Met365Ile)
14g.39067218C>TCA389535171SEC23Ac.1182G>A (p.Met394Ile)
c.576G>A (p.Met192Ile)
c.1095G>A (p.Met365Ile)
14g.39067219A=CA2130612103SEC23Ac.1181T= (p.Met394=)
c.575T= (p.Met192=)
c.1094T= (p.Met365=)
14g.39067219A>CCA389535172SEC23Ac.1181T>G (p.Met394Arg)
c.575T>G (p.Met192Arg)
c.1094T>G (p.Met365Arg)
14g.39067219A>GCA7161928SEC23Ac.1181T>C (p.Met394Thr)
c.575T>C (p.Met192Thr)
c.1094T>C (p.Met365Thr)
 dbSNP ExAC gnomAD v2
14g.39067219A>TCA389535173SEC23Ac.1181T>A (p.Met394Lys)
c.575T>A (p.Met192Lys)
c.1094T>A (p.Met365Lys)
14g.39067220T>ACA389535174SEC23Ac.1180A>T (p.Met394Leu)
c.574A>T (p.Met192Leu)
c.1093A>T (p.Met365Leu)
 dbSNP gnomAD v4
14g.39067220T>CCA7161929SEC23Ac.1180A>G (p.Met394Val)
c.574A>G (p.Met192Val)
c.1093A>G (p.Met365Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067220T>GCA389535175SEC23Ac.1180A>C (p.Met394Leu)
c.574A>C (p.Met192Leu)
c.1093A>C (p.Met365Leu)
14g.39067220T=CA2130612105SEC23Ac.1180A= (p.Met394=)
c.574A= (p.Met192=)
c.1093A= (p.Met365=)
14g.39067221G>ACA486103576SEC23Ac.1179C>T (p.Asp393=)
c.573C>T (p.Asp191=)
c.1092C>T (p.Asp364=)
14g.39067221G>CCA389535176SEC23Ac.1179C>G (p.Asp393Glu)
c.573C>G (p.Asp191Glu)
c.1092C>G (p.Asp364Glu)
14g.39067221G>TCA389535177SEC23Ac.1179C>A (p.Asp393Glu)
c.573C>A (p.Asp191Glu)
c.1092C>A (p.Asp364Glu)
14g.39067222T>ACA389535180SEC23Ac.1178A>T (p.Asp393Val)
c.572A>T (p.Asp191Val)
c.1091A>T (p.Asp364Val)
 gnomAD v4
14g.39067222T>CCA389535178SEC23Ac.1178A>G (p.Asp393Gly)
c.572A>G (p.Asp191Gly)
c.1091A>G (p.Asp364Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.39067222T>GCA389535179SEC23Ac.1178A>C (p.Asp393Ala)
c.572A>C (p.Asp191Ala)
c.1091A>C (p.Asp364Ala)
14g.39067222T=CA2130612107SEC23Ac.1178A= (p.Asp393=)
c.572A= (p.Asp191=)
c.1091A= (p.Asp364=)
14g.39067223C>ACA389535181SEC23Ac.1177G>T (p.Asp393Tyr)
c.571G>T (p.Asp191Tyr)
c.1090G>T (p.Asp364Tyr)
14g.39067223C>GCA389535182SEC23Ac.1177G>C (p.Asp393His)
c.571G>C (p.Asp191His)
c.1090G>C (p.Asp364His)
14g.39067223C>TCA389535183SEC23Ac.1177G>A (p.Asp393Asn)
c.571G>A (p.Asp191Asn)
c.1090G>A (p.Asp364Asn)
14g.39067224T>ACA389535184SEC23Ac.1176A>T (p.Lys392Asn)
c.570A>T (p.Lys190Asn)
c.1089A>T (p.Lys363Asn)
14g.39067224T>CCA486103577SEC23Ac.1176A>G (p.Lys392=)
c.570A>G (p.Lys190=)
c.1089A>G (p.Lys363=)
14g.39067224T>GCA7161930SEC23Ac.1176A>C (p.Lys392Asn)
c.570A>C (p.Lys190Asn)
c.1089A>C (p.Lys363Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067224T=CA2130612109SEC23Ac.1176A= (p.Lys392=)
c.570A= (p.Lys190=)
c.1089A= (p.Lys363=)
14g.39067225T>ACA389535185SEC23Ac.1175A>T (p.Lys392Ile)
c.569A>T (p.Lys190Ile)
c.1088A>T (p.Lys363Ile)
14g.39067225T>CCA389535186SEC23Ac.1175A>G (p.Lys392Arg)
c.569A>G (p.Lys190Arg)
c.1088A>G (p.Lys363Arg)
14g.39067225T>GCA389535187SEC23Ac.1175A>C (p.Lys392Thr)
c.569A>C (p.Lys190Thr)
c.1088A>C (p.Lys363Thr)
14g.39067226T>ACA389535188SEC23Ac.1174A>T (p.Lys392Ter)
c.568A>T (p.Lys190Ter)
c.1087A>T (p.Lys363Ter)
14g.39067226T>CCA389535189SEC23Ac.1174A>G (p.Lys392Glu)
c.568A>G (p.Lys190Glu)
c.1087A>G (p.Lys363Glu)
 COSMIC COSMIC
14g.39067226T>GCA389535190SEC23Ac.1174A>C (p.Lys392Gln)
c.568A>C (p.Lys190Gln)
c.1087A>C (p.Lys363Gln)
14g.39067227G>ACA7161931SEC23Ac.1173C>T (p.Thr391=)
c.567C>T (p.Thr189=)
c.1086C>T (p.Thr362=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067227G>CCA486103579SEC23Ac.1173C>G (p.Thr391=)
c.567C>G (p.Thr189=)
c.1086C>G (p.Thr362=)
14g.39067227G=CA2130612112SEC23Ac.1173C= (p.Thr391=)
c.567C= (p.Thr189=)
c.1086C= (p.Thr362=)
14g.39067227G>TCA486103578SEC23Ac.1173C>A (p.Thr391=)
c.567C>A (p.Thr189=)
c.1086C>A (p.Thr362=)
 gnomAD v4
14g.39067228G>ACA259543429SEC23Ac.1172C>T (p.Thr391Ile)
c.566C>T (p.Thr189Ile)
c.1085C>T (p.Thr362Ile)
 dbSNP gnomAD v4
14g.39067228G>CCA389535191SEC23Ac.1172C>G (p.Thr391Ser)
c.566C>G (p.Thr189Ser)
c.1085C>G (p.Thr362Ser)
14g.39067228G=CA2130612116SEC23Ac.1172C= (p.Thr391=)
c.566C= (p.Thr189=)
c.1085C= (p.Thr362=)
14g.39067228G>TCA389535192SEC23Ac.1172C>A (p.Thr391Asn)
c.566C>A (p.Thr189Asn)
c.1085C>A (p.Thr362Asn)
14g.39067229T>ACA389535193SEC23Ac.1171A>T (p.Thr391Ser)
c.565A>T (p.Thr189Ser)
c.1084A>T (p.Thr362Ser)
14g.39067229T>CCA389535194SEC23Ac.1171A>G (p.Thr391Ala)
c.565A>G (p.Thr189Ala)
c.1084A>G (p.Thr362Ala)
14g.39067229T>GCA389535195SEC23Ac.1171A>C (p.Thr391Pro)
c.565A>C (p.Thr189Pro)
c.1084A>C (p.Thr362Pro)
14g.39067229_39067231delinsTAACA2130612119SEC23Ac.1169_1171delinsTTA (p.Phe390=)
c.563_565delinsTTA (p.Phe188=)
c.1082_1084delinsTTA (p.Phe361=)
14g.39067230A>CCA389535196SEC23Ac.1170T>G (p.Phe390Leu)
c.564T>G (p.Phe188Leu)
c.1083T>G (p.Phe361Leu)
14g.39067230A>GCA486103580SEC23Ac.1170T>C (p.Phe390=)
c.564T>C (p.Phe188=)
c.1083T>C (p.Phe361=)
14g.39067230A>TCA389535197SEC23Ac.1170T>A (p.Phe390Leu)
c.564T>A (p.Phe188Leu)
c.1083T>A (p.Phe361Leu)
14g.39067231_39067232delCA962191691SEC23Ac.1169_1170del (p.Phe390TyrfsTer9)
c.563_564del (p.Phe188TyrfsTer9)
c.1082_1083del (p.Phe361TyrfsTer9)
 dbSNP gnomAD v3 gnomAD v4
14g.39067231A>CCA389535198SEC23Ac.1169T>G (p.Phe390Cys)
c.563T>G (p.Phe188Cys)
c.1082T>G (p.Phe361Cys)
14g.39067231A>GCA389535199SEC23Ac.1169T>C (p.Phe390Ser)
c.563T>C (p.Phe188Ser)
c.1082T>C (p.Phe361Ser)
14g.39067231A>TCA389535200SEC23Ac.1169T>A (p.Phe390Tyr)
c.563T>A (p.Phe188Tyr)
c.1082T>A (p.Phe361Tyr)
14g.39067232A>CCA389535201SEC23Ac.1168T>G (p.Phe390Val)
c.562T>G (p.Phe188Val)
c.1081T>G (p.Phe361Val)
14g.39067232A>GCA389535202SEC23Ac.1168T>C (p.Phe390Leu)
c.562T>C (p.Phe188Leu)
c.1081T>C (p.Phe361Leu)
14g.39067232A>TCA389535203SEC23Ac.1168T>A (p.Phe390Ile)
c.562T>A (p.Phe188Ile)
c.1081T>A (p.Phe361Ile)
14g.39067233G>ACA486103581SEC23Ac.1167C>T (p.Val389=)
c.561C>T (p.Val187=)
c.1080C>T (p.Val360=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.39067233G>CCA486103582SEC23Ac.1167C>G (p.Val389=)
c.561C>G (p.Val187=)
c.1080C>G (p.Val360=)
14g.39067233G=CA2130612125SEC23Ac.1167C= (p.Val389=)
c.561C= (p.Val187=)
c.1080C= (p.Val360=)
14g.39067233G>TCA486103583SEC23Ac.1167C>A (p.Val389=)
c.561C>A (p.Val187=)
c.1080C>A (p.Val360=)
14g.39067234A>CCA389535204SEC23Ac.1166T>G (p.Val389Gly)
c.560T>G (p.Val187Gly)
c.1079T>G (p.Val360Gly)
14g.39067234A>GCA389535206SEC23Ac.1166T>C (p.Val389Ala)
c.560T>C (p.Val187Ala)
c.1079T>C (p.Val360Ala)
14g.39067234A>TCA389535205SEC23Ac.1166T>A (p.Val389Asp)
c.560T>A (p.Val187Asp)
c.1079T>A (p.Val360Asp)
14g.39067234_39067236delinsACTCA2130612128SEC23Ac.1164_1166delinsAGT (p.Arg388=)
c.558_560delinsAGT (p.Arg186=)
c.1077_1079delinsAGT (p.Arg359=)
14g.39067235C>ACA389535207SEC23Ac.1165G>T (p.Val389Phe)
c.559G>T (p.Val187Phe)
c.1078G>T (p.Val360Phe)
14g.39067235C>GCA389535208SEC23Ac.1165G>C (p.Val389Leu)
c.559G>C (p.Val187Leu)
c.1078G>C (p.Val360Leu)
14g.39067235C>TCA389535209SEC23Ac.1165G>A (p.Val389Ile)
c.559G>A (p.Val187Ile)
c.1078G>A (p.Val360Ile)
 gnomAD v4
14g.39067237_39067238delCA259543447SEC23Ac.1164_1165del (p.Arg388SerfsTer11)
c.558_559del (p.Arg186SerfsTer11)
c.1077_1078del (p.Arg359SerfsTer11)
 dbSNP gnomAD v4
14g.39067236T>ACA389535210SEC23Ac.1164A>T (p.Arg388Ser)
c.558A>T (p.Arg186Ser)
c.1077A>T (p.Arg359Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.39067236T>CCA486103584SEC23Ac.1164A>G (p.Arg388=)
c.558A>G (p.Arg186=)
c.1077A>G (p.Arg359=)
14g.39067236T>GCA389535211SEC23Ac.1164A>C (p.Arg388Ser)
c.558A>C (p.Arg186Ser)
c.1077A>C (p.Arg359Ser)
14g.39067236T=CA2130612134SEC23Ac.1164A= (p.Arg388=)
c.558A= (p.Arg186=)
c.1077A= (p.Arg359=)
14g.39067237C>ACA389535212SEC23Ac.1163G>T (p.Arg388Ile)
c.557G>T (p.Arg186Ile)
c.1076G>T (p.Arg359Ile)
 gnomAD v4
14g.39067237C=CA2130612136SEC23Ac.1163G= (p.Arg388=)
c.557G= (p.Arg186=)
c.1076G= (p.Arg359=)
14g.39067237C>GCA7161933SEC23Ac.1163G>C (p.Arg388Thr)
c.557G>C (p.Arg186Thr)
c.1076G>C (p.Arg359Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067237C>TCA7161932SEC23Ac.1163G>A (p.Arg388Lys)
c.557G>A (p.Arg186Lys)
c.1076G>A (p.Arg359Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067238T>ACA389535214SEC23Ac.1162A>T (p.Arg388Ter)
c.556A>T (p.Arg186Ter)
c.1075A>T (p.Arg359Ter)
14g.39067238T>CCA389535213SEC23Ac.1162A>G (p.Arg388Gly)
c.556A>G (p.Arg186Gly)
c.1075A>G (p.Arg359Gly)
 gnomAD v4
14g.39067238T>GCA486103585SEC23Ac.1162A>C (p.Arg388=)
c.556A>C (p.Arg186=)
c.1075A>C (p.Arg359=)
14g.39067239T>ACA389535215SEC23Ac.1161A>T (p.Gln387His)
c.555A>T (p.Gln185His)
c.1074A>T (p.Gln358His)
14g.39067239T>CCA486103586SEC23Ac.1161A>G (p.Gln387=)
c.555A>G (p.Gln185=)
c.1074A>G (p.Gln358=)
14g.39067239T>GCA389535216SEC23Ac.1161A>C (p.Gln387His)
c.555A>C (p.Gln185His)
c.1074A>C (p.Gln358His)
14g.39067240T>ACA389535217SEC23Ac.1160A>T (p.Gln387Leu)
c.554A>T (p.Gln185Leu)
c.1073A>T (p.Gln358Leu)
14g.39067240T>CCA389535218SEC23Ac.1160A>G (p.Gln387Arg)
c.554A>G (p.Gln185Arg)
c.1073A>G (p.Gln358Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.39067240T>GCA389535219SEC23Ac.1160A>C (p.Gln387Pro)
c.554A>C (p.Gln185Pro)
c.1073A>C (p.Gln358Pro)
14g.39067240T=CA2130612139SEC23Ac.1160A= (p.Gln387=)
c.554A= (p.Gln185=)
c.1073A= (p.Gln358=)
14g.39067241G>ACA389535220SEC23Ac.1159C>T (p.Gln387Ter)
c.553C>T (p.Gln185Ter)
c.1072C>T (p.Gln358Ter)
14g.39067241G>CCA389535221SEC23Ac.1159C>G (p.Gln387Glu)
c.553C>G (p.Gln185Glu)
c.1072C>G (p.Gln358Glu)
 gnomAD v4
14g.39067241G>TCA389535222SEC23Ac.1159C>A (p.Gln387Lys)
c.553C>A (p.Gln185Lys)
c.1072C>A (p.Gln358Lys)
14g.39067242A>CCA389535224SEC23Ac.1158T>G (p.Phe386Leu)
c.552T>G (p.Phe184Leu)
c.1071T>G (p.Phe357Leu)
14g.39067242A>GCA486103587SEC23Ac.1158T>C (p.Phe386=)
c.552T>C (p.Phe184=)
c.1071T>C (p.Phe357=)
14g.39067242A>TCA389535223SEC23Ac.1158T>A (p.Phe386Leu)
c.552T>A (p.Phe184Leu)
c.1071T>A (p.Phe357Leu)
14g.39067243A>CCA389535225SEC23Ac.1157T>G (p.Phe386Cys)
c.551T>G (p.Phe184Cys)
c.1070T>G (p.Phe357Cys)
14g.39067243A>GCA389535226SEC23Ac.1157T>C (p.Phe386Ser)
c.551T>C (p.Phe184Ser)
c.1070T>C (p.Phe357Ser)
 gnomAD v4
14g.39067243A>TCA389535227SEC23Ac.1157T>A (p.Phe386Tyr)
c.551T>A (p.Phe184Tyr)
c.1070T>A (p.Phe357Tyr)
14g.39067244A>CCA389535228SEC23Ac.1156T>G (p.Phe386Val)
c.550T>G (p.Phe184Val)
c.1069T>G (p.Phe357Val)
14g.39067244A>GCA389535229SEC23Ac.1156T>C (p.Phe386Leu)
c.550T>C (p.Phe184Leu)
c.1069T>C (p.Phe357Leu)
14g.39067244A>TCA389535230SEC23Ac.1156T>A (p.Phe386Ile)
c.550T>A (p.Phe184Ile)
c.1069T>A (p.Phe357Ile)
14g.39067245A>CCA486103588SEC23Ac.1155T>G (p.Thr385=)
c.549T>G (p.Thr183=)
c.1068T>G (p.Thr356=)
14g.39067245A>GCA486103589SEC23Ac.1155T>C (p.Thr385=)
c.549T>C (p.Thr183=)
c.1068T>C (p.Thr356=)
14g.39067245A>TCA486103590SEC23Ac.1155T>A (p.Thr385=)
c.549T>A (p.Thr183=)
c.1068T>A (p.Thr356=)
14g.39067246G>ACA389535231SEC23Ac.1154C>T (p.Thr385Ile)
c.548C>T (p.Thr183Ile)
c.1067C>T (p.Thr356Ile)
14g.39067246G>CCA389535233SEC23Ac.1154C>G (p.Thr385Ser)
c.548C>G (p.Thr183Ser)
c.1067C>G (p.Thr356Ser)
14g.39067246G>TCA389535232SEC23Ac.1154C>A (p.Thr385Asn)
c.548C>A (p.Thr183Asn)
c.1067C>A (p.Thr356Asn)
14g.39067247T>ACA389535234SEC23Ac.1153A>T (p.Thr385Ser)
c.547A>T (p.Thr183Ser)
c.1066A>T (p.Thr356Ser)
14g.39067247T>CCA389535235SEC23Ac.1153A>G (p.Thr385Ala)
c.547A>G (p.Thr183Ala)
c.1066A>G (p.Thr356Ala)
 dbSNP gnomAD v4
14g.39067247T>GCA389535236SEC23Ac.1153A>C (p.Thr385Pro)
c.547A>C (p.Thr183Pro)
c.1066A>C (p.Thr356Pro)
14g.39067247T=CA2130612143SEC23Ac.1153A= (p.Thr385=)
c.547A= (p.Thr183=)
c.1066A= (p.Thr356=)
14g.39067248T>ACA389535237SEC23Ac.1152A>T (p.Gln384His)
c.546A>T (p.Gln182His)
c.1065A>T (p.Gln355His)
14g.39067248T>CCA486103591SEC23Ac.1152A>G (p.Gln384=)
c.546A>G (p.Gln182=)
c.1065A>G (p.Gln355=)
 dbSNP gnomAD v4
14g.39067248T>GCA389535238SEC23Ac.1152A>C (p.Gln384His)
c.546A>C (p.Gln182His)
c.1065A>C (p.Gln355His)
14g.39067248T=CA2130612147SEC23Ac.1152A= (p.Gln384=)
c.546A= (p.Gln182=)
c.1065A= (p.Gln355=)
14g.39067249T>ACA389535239SEC23Ac.1151A>T (p.Gln384Leu)
c.545A>T (p.Gln182Leu)
c.1064A>T (p.Gln355Leu)
14g.39067249T>CCA389535240SEC23Ac.1151A>G (p.Gln384Arg)
c.545A>G (p.Gln182Arg)
c.1064A>G (p.Gln355Arg)
14g.39067249T>GCA389535241SEC23Ac.1151A>C (p.Gln384Pro)
c.545A>C (p.Gln182Pro)
c.1064A>C (p.Gln355Pro)
14g.39067250G>ACA389535242SEC23Ac.1150C>T (p.Gln384Ter)
c.544C>T (p.Gln182Ter)
c.1063C>T (p.Gln355Ter)
14g.39067250G>CCA389535243SEC23Ac.1150C>G (p.Gln384Glu)
c.544C>G (p.Gln182Glu)
c.1063C>G (p.Gln355Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.39067250G=CA2130612151SEC23Ac.1150C= (p.Gln384=)
c.544C= (p.Gln182=)
c.1063C= (p.Gln355=)
14g.39067250G>TCA389535244SEC23Ac.1150C>A (p.Gln384Lys)
c.544C>A (p.Gln182Lys)
c.1063C>A (p.Gln355Lys)
 dbSNP
14g.39067251T>ACA389535245SEC23Ac.1149A>T (p.Lys383Asn)
c.543A>T (p.Lys181Asn)
c.1062A>T (p.Lys354Asn)
14g.39067251T>CCA486103592SEC23Ac.1149A>G (p.Lys383=)
c.543A>G (p.Lys181=)
c.1062A>G (p.Lys354=)
14g.39067251T>GCA389535246SEC23Ac.1149A>C (p.Lys383Asn)
c.543A>C (p.Lys181Asn)
c.1062A>C (p.Lys354Asn)
14g.39067252T>ACA389535247SEC23Ac.1148A>T (p.Lys383Ile)
c.542A>T (p.Lys181Ile)
c.1061A>T (p.Lys354Ile)
14g.39067252T>CCA389535248SEC23Ac.1148A>G (p.Lys383Arg)
c.542A>G (p.Lys181Arg)
c.1061A>G (p.Lys354Arg)
14g.39067252T>GCA389535249SEC23Ac.1148A>C (p.Lys383Thr)
c.542A>C (p.Lys181Thr)
c.1061A>C (p.Lys354Thr)
14g.39067253T>ACA389535250SEC23Ac.1147A>T (p.Lys383Ter)
c.541A>T (p.Lys181Ter)
c.1060A>T (p.Lys354Ter)
14g.39067253T>CCA389535251SEC23Ac.1147A>G (p.Lys383Glu)
c.541A>G (p.Lys181Glu)
c.1060A>G (p.Lys354Glu)
14g.39067253T>GCA389535252SEC23Ac.1147A>C (p.Lys383Gln)
c.541A>C (p.Lys181Gln)
c.1060A>C (p.Lys354Gln)
14g.39067254G>ACA486103593SEC23Ac.1146C>T (p.Phe382=)
c.540C>T (p.Phe180=)
c.1059C>T (p.Phe353=)
14g.39067254G>CCA389535253SEC23Ac.1146C>G (p.Phe382Leu)
c.540C>G (p.Phe180Leu)
c.1059C>G (p.Phe353Leu)
 gnomAD v4
14g.39067254G>TCA389535254SEC23Ac.1146C>A (p.Phe382Leu)
c.540C>A (p.Phe180Leu)
c.1059C>A (p.Phe353Leu)
14g.39067255A>CCA389535255SEC23Ac.1145T>G (p.Phe382Cys)
c.539T>G (p.Phe180Cys)
c.1058T>G (p.Phe353Cys)
14g.39067255A>GCA389535256SEC23Ac.1145T>C (p.Phe382Ser)
c.539T>C (p.Phe180Ser)
c.1058T>C (p.Phe353Ser)
14g.39067255A>TCA389535257SEC23Ac.1145T>A (p.Phe382Tyr)
c.539T>A (p.Phe180Tyr)
c.1058T>A (p.Phe353Tyr)
14g.39067256A=CA2130612155SEC23Ac.1144T= (p.Phe382=)
c.538T= (p.Phe180=)
c.1057T= (p.Phe353=)
14g.39067256A>CCA389535258SEC23Ac.1144T>G (p.Phe382Val)
c.538T>G (p.Phe180Val)
c.1057T>G (p.Phe353Val)
14g.39067256A>GCA114858SEC23Ac.1144T>C (p.Phe382Leu)
c.538T>C (p.Phe180Leu)
c.1057T>C (p.Phe353Leu)
 ClinVar dbSNP
14g.39067256A>TCA389535259SEC23Ac.1144T>A (p.Phe382Ile)
c.538T>A (p.Phe180Ile)
c.1057T>A (p.Phe353Ile)
14g.39067257T>ACA389535260SEC23Ac.1143A>T (p.Leu381Phe)
c.537A>T (p.Leu179Phe)
c.1056A>T (p.Leu352Phe)
14g.39067257T>CCA486103594SEC23Ac.1143A>G (p.Leu381=)
c.537A>G (p.Leu179=)
c.1056A>G (p.Leu352=)
14g.39067257T>GCA389535261SEC23Ac.1143A>C (p.Leu381Phe)
c.537A>C (p.Leu179Phe)
c.1056A>C (p.Leu352Phe)
14g.39067258A>CCA389535262SEC23Ac.1142T>G (p.Leu381Ter)
c.536T>G (p.Leu179Ter)
c.1055T>G (p.Leu352Ter)
14g.39067258A>GCA389535263SEC23Ac.1142T>C (p.Leu381Ser)
c.536T>C (p.Leu179Ser)
c.1055T>C (p.Leu352Ser)
14g.39067258A>TCA389535264SEC23Ac.1142T>A (p.Leu381Ter)
c.536T>A (p.Leu179Ter)
c.1055T>A (p.Leu352Ter)
 gnomAD v4
14g.39067259A>CCA389535265SEC23Ac.1141T>G (p.Leu381Val)
c.535T>G (p.Leu179Val)
c.1054T>G (p.Leu352Val)
 gnomAD v4
14g.39067259A>GCA486103595SEC23Ac.1141T>C (p.Leu381=)
c.535T>C (p.Leu179=)
c.1054T>C (p.Leu352=)
14g.39067259A>TCA389535266SEC23Ac.1141T>A (p.Leu381Ile)
c.535T>A (p.Leu179Ile)
c.1054T>A (p.Leu352Ile)
14g.39067259_39067260delinsAGCA2130612159SEC23Ac.1140_1141delinsCT (p.Ser380=)
c.534_535delinsCT (p.Ser178=)
c.1053_1054delinsCT (p.Ser351=)
14g.39067260G>ACA7161934SEC23Ac.1140C>T (p.Ser380=)
c.534C>T (p.Ser178=)
c.1053C>T (p.Ser351=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.39067260G>CCA486103596SEC23Ac.1140C>G (p.Ser380=)
c.534C>G (p.Ser178=)
c.1053C>G (p.Ser351=)
14g.39067260G=CA2130612163SEC23Ac.1140C= (p.Ser380=)
c.534C= (p.Ser178=)
c.1053C= (p.Ser351=)
14g.39067260G>TCA486103597SEC23Ac.1140C>A (p.Ser380=)
c.534C>A (p.Ser178=)
c.1053C>A (p.Ser351=)
14g.39067261delCA613543163SEC23Ac.1140del (p.Leu381TyrfsTer26)
c.534del (p.Leu179TyrfsTer26)
c.1053del (p.Leu352TyrfsTer26)
 dbSNP gnomAD v2 gnomAD v4
14g.39067261G>ACA389535267SEC23Ac.1139C>T (p.Ser380Phe)
c.533C>T (p.Ser178Phe)
c.1052C>T (p.Ser351Phe)
 COSMIC COSMIC
14g.39067261G>CCA389535268SEC23Ac.1139C>G (p.Ser380Cys)
c.533C>G (p.Ser178Cys)
c.1052C>G (p.Ser351Cys)
14g.39067261G>TCA389535269SEC23Ac.1139C>A (p.Ser380Tyr)
c.533C>A (p.Ser178Tyr)
c.1052C>A (p.Ser351Tyr)
 gnomAD v4
14g.39067262A=CA2130612175SEC23Ac.1138T= (p.Ser380=)
c.532T= (p.Ser178=)
c.1051T= (p.Ser351=)
14g.39067262A>CCA389535270SEC23Ac.1138T>G (p.Ser380Ala)
c.532T>G (p.Ser178Ala)
c.1051T>G (p.Ser351Ala)
14g.39067262A>GCA389535271SEC23Ac.1138T>C (p.Ser380Pro)
c.532T>C (p.Ser178Pro)
c.1051T>C (p.Ser351Pro)
14g.39067262A>TCA7161935SEC23Ac.1138T>A (p.Ser380Thr)
c.532T>A (p.Ser178Thr)
c.1051T>A (p.Ser351Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched