Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.11885959A>CCA478767207ETV6c.1186A>C (p.Arg396=)
c.23A>C
c.1183A>C (p.Arg395=)
c.1159A>C (p.Arg387=)
c.922A>C (p.Arg308=)
c.565A>C (p.Arg189=)
c.1051A>C (p.Arg351=)
12g.11885959A>GCA384044880ETV6c.1186A>G (p.Arg396Gly)
c.23A>G
c.1183A>G (p.Arg395Gly)
c.1159A>G (p.Arg387Gly)
c.922A>G (p.Arg308Gly)
c.565A>G (p.Arg189Gly)
c.1051A>G (p.Arg351Gly)
dbSNP COSMIC
12g.11885959A>TCA384044879ETV6c.1186A>T (p.Arg396Ter)
c.23A>T
c.1183A>T (p.Arg395Ter)
c.1159A>T (p.Arg387Ter)
c.922A>T (p.Arg308Ter)
c.565A>T (p.Arg189Ter)
c.1051A>T (p.Arg351Ter)
12g.11885960G>ACA384044883ETV6c.1187G>A (p.Arg396Lys)
c.24G>A
c.1184G>A (p.Arg395Lys)
c.1160G>A (p.Arg387Lys)
c.923G>A (p.Arg308Lys)
c.566G>A (p.Arg189Lys)
c.1052G>A (p.Arg351Lys)
12g.11885960G>CCA384044881ETV6c.1187G>C (p.Arg396Thr)
c.24G>C
c.1184G>C (p.Arg395Thr)
c.1160G>C (p.Arg387Thr)
c.923G>C (p.Arg308Thr)
c.566G>C (p.Arg189Thr)
c.1052G>C (p.Arg351Thr)
COSMIC
12g.11885960G>TCA384044882ETV6c.1187G>T (p.Arg396Ile)
c.24G>T
c.1184G>T (p.Arg395Ile)
c.1160G>T (p.Arg387Ile)
c.923G>T (p.Arg308Ile)
c.566G>T (p.Arg189Ile)
c.1052G>T (p.Arg351Ile)
12g.11885961A>CCA384044884ETV6c.1188A>C (p.Arg396Ser)
c.25A>C
c.1185A>C (p.Arg395Ser)
c.1161A>C (p.Arg387Ser)
c.924A>C (p.Arg308Ser)
c.567A>C (p.Arg189Ser)
c.1053A>C (p.Arg351Ser)
12g.11885961A>GCA478767208ETV6c.1188A>G (p.Arg396=)
c.25A>G
c.1185A>G (p.Arg395=)
c.1161A>G (p.Arg387=)
c.924A>G (p.Arg308=)
c.567A>G (p.Arg189=)
c.1053A>G (p.Arg351=)
12g.11885961A>TCA384044885ETV6c.1188A>T (p.Arg396Ser)
c.25A>T
c.1185A>T (p.Arg395Ser)
c.1161A>T (p.Arg387Ser)
c.924A>T (p.Arg308Ser)
c.567A>T (p.Arg189Ser)
c.1053A>T (p.Arg351Ser)
12g.11885962G>ACA384044886ETV6c.1189G>A (p.Ala397Thr)
c.26G>A
c.1186G>A (p.Ala396Thr)
c.1162G>A (p.Ala388Thr)
c.925G>A (p.Ala309Thr)
c.568G>A (p.Ala190Thr)
c.1054G>A (p.Ala352Thr)
12g.11885962G>CCA384044887ETV6c.1189G>C (p.Ala397Pro)
c.26G>C
c.1186G>C (p.Ala396Pro)
c.1162G>C (p.Ala388Pro)
c.925G>C (p.Ala309Pro)
c.568G>C (p.Ala190Pro)
c.1054G>C (p.Ala352Pro)
dbSNP
12g.11885962G>TCA384044888ETV6c.1189G>T (p.Ala397Ser)
c.26G>T
c.1186G>T (p.Ala396Ser)
c.1162G>T (p.Ala388Ser)
c.925G>T (p.Ala309Ser)
c.568G>T (p.Ala190Ser)
c.1054G>T (p.Ala352Ser)
12g.11885963C>ACA384044889ETV6c.1190C>A (p.Ala397Asp)
c.27C>A
c.1187C>A (p.Ala396Asp)
c.1163C>A (p.Ala388Asp)
c.926C>A (p.Ala309Asp)
c.569C>A (p.Ala190Asp)
c.1055C>A (p.Ala352Asp)
12g.11885963C>GCA384044890ETV6c.1190C>G (p.Ala397Gly)
c.27C>G
c.1187C>G (p.Ala396Gly)
c.1163C>G (p.Ala388Gly)
c.926C>G (p.Ala309Gly)
c.569C>G (p.Ala190Gly)
c.1055C>G (p.Ala352Gly)
dbSNP
12g.11885963C>TCA384044891ETV6c.1190C>T (p.Ala397Val)
c.27C>T
c.1187C>T (p.Ala396Val)
c.1163C>T (p.Ala388Val)
c.926C>T (p.Ala309Val)
c.569C>T (p.Ala190Val)
c.1055C>T (p.Ala352Val)
ClinVar dbSNP COSMIC
12g.11885964C>ACA478767209ETV6c.1191C>A (p.Ala397=)
c.28C>A
c.1188C>A (p.Ala396=)
c.1164C>A (p.Ala388=)
c.927C>A (p.Ala309=)
c.570C>A (p.Ala190=)
c.1056C>A (p.Ala352=)
dbSNP
12g.11885964C>GCA478767210ETV6c.1191C>G (p.Ala397=)
c.28C>G
c.1188C>G (p.Ala396=)
c.1164C>G (p.Ala388=)
c.927C>G (p.Ala309=)
c.570C>G (p.Ala190=)
c.1056C>G (p.Ala352=)
12g.11885964C>TCA478767211ETV6c.1191C>T (p.Ala397=)
c.28C>T
c.1188C>T (p.Ala396=)
c.1164C>T (p.Ala388=)
c.927C>T (p.Ala309=)
c.570C>T (p.Ala190=)
c.1056C>T (p.Ala352=)
12g.11885965C>ACA384044892ETV6c.1192C>A (p.Leu398Met)
c.29C>A
c.1189C>A (p.Leu397Met)
c.1165C>A (p.Leu389Met)
c.928C>A (p.Leu310Met)
c.571C>A (p.Leu191Met)
c.1057C>A (p.Leu353Met)
12g.11885965C>GCA384044893ETV6c.1192C>G (p.Leu398Val)
c.29C>G
c.1189C>G (p.Leu397Val)
c.1165C>G (p.Leu389Val)
c.928C>G (p.Leu310Val)
c.571C>G (p.Leu191Val)
c.1057C>G (p.Leu353Val)
12g.11885965C>TCA478767212ETV6c.1192C>T (p.Leu398=)
c.29C>T
c.1189C>T (p.Leu397=)
c.1165C>T (p.Leu389=)
c.928C>T (p.Leu310=)
c.571C>T (p.Leu191=)
c.1057C>T (p.Leu353=)
12g.11885966T>ACA384044894ETV6c.1193T>A (p.Leu398Gln)
c.30T>A
c.1190T>A (p.Leu397Gln)
c.1166T>A (p.Leu389Gln)
c.929T>A (p.Leu310Gln)
c.572T>A (p.Leu191Gln)
c.1058T>A (p.Leu353Gln)
COSMIC
12g.11885966T>CCA384044896ETV6c.1193T>C (p.Leu398Pro)
c.30T>C
c.1190T>C (p.Leu397Pro)
c.1166T>C (p.Leu389Pro)
c.929T>C (p.Leu310Pro)
c.572T>C (p.Leu191Pro)
c.1058T>C (p.Leu353Pro)
dbSNP
12g.11885966T>GCA384044895ETV6c.1193T>G (p.Leu398Arg)
c.30T>G
c.1190T>G (p.Leu397Arg)
c.1166T>G (p.Leu389Arg)
c.929T>G (p.Leu310Arg)
c.572T>G (p.Leu191Arg)
c.1058T>G (p.Leu353Arg)
12g.11885967G>ACA6454428ETV6c.1194G>A (p.Leu398=)
c.31G>A
c.1191G>A (p.Leu397=)
c.1167G>A (p.Leu389=)
c.930G>A (p.Leu310=)
c.573G>A (p.Leu191=)
c.1059G>A (p.Leu353=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885967G>CCA478767214ETV6c.1194G>C (p.Leu398=)
c.31G>C
c.1191G>C (p.Leu397=)
c.1167G>C (p.Leu389=)
c.930G>C (p.Leu310=)
c.573G>C (p.Leu191=)
c.1059G>C (p.Leu353=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.11885967G=CA2016648596ETV6c.1194G= (p.Leu398=)
c.31G=
c.1191G= (p.Leu397=)
c.1167G= (p.Leu389=)
c.930G= (p.Leu310=)
c.573G= (p.Leu191=)
c.1059G= (p.Leu353=)
12g.11885967G>TCA478767213ETV6c.1194G>T (p.Leu398=)
c.31G>T
c.1191G>T (p.Leu397=)
c.1167G>T (p.Leu389=)
c.930G>T (p.Leu310=)
c.573G>T (p.Leu191=)
c.1059G>T (p.Leu353=)
12g.11885968C>ACA384044897ETV6c.1195C>A (p.Arg399Ser)
c.32C>A
c.1192C>A (p.Arg398Ser)
c.1168C>A (p.Arg390Ser)
c.931C>A (p.Arg311Ser)
c.574C>A (p.Arg192Ser)
c.1060C>A (p.Arg354Ser)
dbSNP gnomAD v2 COSMIC
12g.11885968C=CA2016648597ETV6c.1195C= (p.Arg399=)
c.32C=
c.1192C= (p.Arg398=)
c.1168C= (p.Arg390=)
c.931C= (p.Arg311=)
c.574C= (p.Arg192=)
c.1060C= (p.Arg354=)
12g.11885968C>GCA384044898ETV6c.1195C>G (p.Arg399Gly)
c.32C>G
c.1192C>G (p.Arg398Gly)
c.1168C>G (p.Arg390Gly)
c.931C>G (p.Arg311Gly)
c.574C>G (p.Arg192Gly)
c.1060C>G (p.Arg354Gly)
COSMIC
12g.11885968C>TCA175025ETV6c.1195C>T (p.Arg399Cys)
c.32C>T
c.1192C>T (p.Arg398Cys)
c.1168C>T (p.Arg390Cys)
c.931C>T (p.Arg311Cys)
c.574C>T (p.Arg192Cys)
c.1060C>T (p.Arg354Cys)
ClinVar dbSNP
12g.11885969G>ACA384044899ETV6c.1196G>A (p.Arg399His)
c.33G>A
c.1193G>A (p.Arg398His)
c.1169G>A (p.Arg390His)
c.932G>A (p.Arg311His)
c.575G>A (p.Arg192His)
c.1061G>A (p.Arg354His)
ClinVar dbSNP gnomAD v4 COSMIC
12g.11885969G>CCA384044900ETV6c.1196G>C (p.Arg399Pro)
c.33G>C
c.1193G>C (p.Arg398Pro)
c.1169G>C (p.Arg390Pro)
c.932G>C (p.Arg311Pro)
c.575G>C (p.Arg192Pro)
c.1061G>C (p.Arg354Pro)
dbSNP
12g.11885969G>TCA384044901ETV6c.1196G>T (p.Arg399Leu)
c.33G>T
c.1193G>T (p.Arg398Leu)
c.1169G>T (p.Arg390Leu)
c.932G>T (p.Arg311Leu)
c.575G>T (p.Arg192Leu)
c.1061G>T (p.Arg354Leu)
12g.11885969_11885970insGGAGCA2725554085ETV6c.1196_1197insGGAG (p.His400GlufsTer27)
c.33_34insGGAG
c.1193_1194insGGAG (p.His399GlufsTer27)
c.1169_1170insGGAG (p.His391GlufsTer27)
c.932_933insGGAG (p.His312GlufsTer27)
c.575_576insGGAG (p.His193GlufsTer27)
c.1061_1062insGGAG (p.His355GlufsTer27)
dbSNP
12g.11885970C>ACA478767215ETV6c.1197C>A (p.Arg399=)
c.34C>A
c.1194C>A (p.Arg398=)
c.1170C>A (p.Arg390=)
c.933C>A (p.Arg311=)
c.576C>A (p.Arg192=)
c.1062C>A (p.Arg354=)
12g.11885970C>GCA478767216ETV6c.1197C>G (p.Arg399=)
c.34C>G
c.1194C>G (p.Arg398=)
c.1170C>G (p.Arg390=)
c.933C>G (p.Arg311=)
c.576C>G (p.Arg192=)
c.1062C>G (p.Arg354=)
12g.11885970C>TCA478767217ETV6c.1197C>T (p.Arg399=)
c.34C>T
c.1194C>T (p.Arg398=)
c.1170C>T (p.Arg390=)
c.933C>T (p.Arg311=)
c.576C>T (p.Arg192=)
c.1062C>T (p.Arg354=)
12g.11885971C>ACA384044902ETV6c.1198C>A (p.His400Asn)
c.35C>A
c.1195C>A (p.His399Asn)
c.1171C>A (p.His391Asn)
c.934C>A (p.His312Asn)
c.577C>A (p.His193Asn)
c.1063C>A (p.His355Asn)
COSMIC
12g.11885971C=CA2016648598ETV6c.1198C= (p.His400=)
c.35C=
c.1195C= (p.His399=)
c.1171C= (p.His391=)
c.934C= (p.His312=)
c.577C= (p.His193=)
c.1063C= (p.His355=)
12g.11885971C>GCA384044903ETV6c.1198C>G (p.His400Asp)
c.35C>G
c.1195C>G (p.His399Asp)
c.1171C>G (p.His391Asp)
c.934C>G (p.His312Asp)
c.577C>G (p.His193Asp)
c.1063C>G (p.His355Asp)
12g.11885971C>TCA384044904ETV6c.1198C>T (p.His400Tyr)
c.35C>T
c.1195C>T (p.His399Tyr)
c.1171C>T (p.His391Tyr)
c.934C>T (p.His312Tyr)
c.577C>T (p.His193Tyr)
c.1063C>T (p.His355Tyr)
12g.11885972A>CCA384044906ETV6c.1199A>C (p.His400Pro)
c.36A>C
c.1196A>C (p.His399Pro)
c.1172A>C (p.His391Pro)
c.935A>C (p.His312Pro)
c.578A>C (p.His193Pro)
c.1064A>C (p.His355Pro)
12g.11885972A>GCA384044907ETV6c.1199A>G (p.His400Arg)
c.36A>G
c.1196A>G (p.His399Arg)
c.1172A>G (p.His391Arg)
c.935A>G (p.His312Arg)
c.578A>G (p.His193Arg)
c.1064A>G (p.His355Arg)
12g.11885972A>TCA384044905ETV6c.1199A>T (p.His400Leu)
c.36A>T
c.1196A>T (p.His399Leu)
c.1172A>T (p.His391Leu)
c.935A>T (p.His312Leu)
c.578A>T (p.His193Leu)
c.1064A>T (p.His355Leu)
12g.11885972_11885995dupCA658797843ETV6c.1199_1222dup (p.Ile407_Arg408insAsnTyrTyrLysLeuAsnIleIle)
c.36_59dup
c.1196_1219dup (p.Ile406_Arg407insAsnTyrTyrLysLeuAsnIleIle)
c.1172_1195dup (p.Ile398_Arg399insAsnTyrTyrLysLeuAsnIleIle)
c.935_958dup (p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle)
c.578_601dup (p.Ile200_Arg201insAsnTyrTyrLysLeuAsnIleIle)
c.1064_1087dup (p.Ile362_Arg363insAsnTyrTyrLysLeuAsnIleIle)
ClinVar dbSNP
12g.11885972_11885973insTTAAAATAAAAGCA2725554086ETV6c.1199_1200insTTAAAATAAAAG (p.His401Ter)
c.36_37insTTAAAATAAAAG
c.1196_1197insTTAAAATAAAAG (p.His400Ter)
c.1172_1173insTTAAAATAAAAG (p.His392Ter)
c.935_936insTTAAAATAAAAG (p.His313Ter)
c.578_579insTTAAAATAAAAG (p.His194Ter)
c.1064_1065insTTAAAATAAAAG (p.His356Ter)
dbSNP
12g.11885973C>ACA384044908ETV6c.1200C>A (p.His400Gln)
c.37C>A
c.1197C>A (p.His399Gln)
c.1173C>A (p.His391Gln)
c.936C>A (p.His312Gln)
c.579C>A (p.His193Gln)
c.1065C>A (p.His355Gln)
12g.11885973C>GCA384044909ETV6c.1200C>G (p.His400Gln)
c.37C>G
c.1197C>G (p.His399Gln)
c.1173C>G (p.His391Gln)
c.936C>G (p.His312Gln)
c.579C>G (p.His193Gln)
c.1065C>G (p.His355Gln)
12g.11885973C>TCA478767218ETV6c.1200C>T (p.His400=)
c.37C>T
c.1197C>T (p.His399=)
c.1173C>T (p.His391=)
c.936C>T (p.His312=)
c.579C>T (p.His193=)
c.1065C>T (p.His355=)
gnomAD v4
12g.11885973dupCA645595231ETV6c.1200dup (p.Tyr401LeufsTer25)
c.37dup
c.1197dup (p.Tyr400LeufsTer25)
c.1173dup (p.Tyr392LeufsTer25)
c.936dup (p.Tyr313LeufsTer25)
c.579dup (p.Tyr194LeufsTer25)
c.1065dup (p.Tyr356LeufsTer25)
COSMIC
12g.11885974T>ACA384044910ETV6c.1201T>A (p.Tyr401Asn)
c.38T>A
c.1198T>A (p.Tyr400Asn)
c.1174T>A (p.Tyr392Asn)
c.937T>A (p.Tyr313Asn)
c.580T>A (p.Tyr194Asn)
c.1066T>A (p.Tyr356Asn)
12g.11885974T>CCA384044911ETV6c.1201T>C (p.Tyr401His)
c.38T>C
c.1198T>C (p.Tyr400His)
c.1174T>C (p.Tyr392His)
c.937T>C (p.Tyr313His)
c.580T>C (p.Tyr194His)
c.1066T>C (p.Tyr356His)
ClinVar dbSNP
12g.11885974T>GCA384044912ETV6c.1201T>G (p.Tyr401Asp)
c.38T>G
c.1198T>G (p.Tyr400Asp)
c.1174T>G (p.Tyr392Asp)
c.937T>G (p.Tyr313Asp)
c.580T>G (p.Tyr194Asp)
c.1066T>G (p.Tyr356Asp)
12g.11885974T=CA2016648599ETV6c.1201T= (p.Tyr401=)
c.38T=
c.1198T= (p.Tyr400=)
c.1174T= (p.Tyr392=)
c.937T= (p.Tyr313=)
c.580T= (p.Tyr194=)
c.1066T= (p.Tyr356=)
12g.11885975A>CCA384044913ETV6c.1202A>C (p.Tyr401Ser)
c.39A>C
c.1199A>C (p.Tyr400Ser)
c.1175A>C (p.Tyr392Ser)
c.938A>C (p.Tyr313Ser)
c.581A>C (p.Tyr194Ser)
c.1067A>C (p.Tyr356Ser)
12g.11885975A>GCA384044914ETV6c.1202A>G (p.Tyr401Cys)
c.39A>G
c.1199A>G (p.Tyr400Cys)
c.1175A>G (p.Tyr392Cys)
c.938A>G (p.Tyr313Cys)
c.581A>G (p.Tyr194Cys)
c.1067A>G (p.Tyr356Cys)
ClinVar COSMIC
12g.11885975A>TCA384044915ETV6c.1202A>T (p.Tyr401Phe)
c.39A>T
c.1199A>T (p.Tyr400Phe)
c.1175A>T (p.Tyr392Phe)
c.938A>T (p.Tyr313Phe)
c.581A>T (p.Tyr194Phe)
c.1067A>T (p.Tyr356Phe)
12g.11885976C>ACA384044916ETV6c.1203C>A (p.Tyr401Ter)
c.40C>A
c.1200C>A (p.Tyr400Ter)
c.1176C>A (p.Tyr392Ter)
c.939C>A (p.Tyr313Ter)
c.582C>A (p.Tyr194Ter)
c.1068C>A (p.Tyr356Ter)
12g.11885976C>GCA384044917ETV6c.1203C>G (p.Tyr401Ter)
c.40C>G
c.1200C>G (p.Tyr400Ter)
c.1176C>G (p.Tyr392Ter)
c.939C>G (p.Tyr313Ter)
c.582C>G (p.Tyr194Ter)
c.1068C>G (p.Tyr356Ter)
12g.11885976C>TCA478767219ETV6c.1203C>T (p.Tyr401=)
c.40C>T
c.1200C>T (p.Tyr400=)
c.1176C>T (p.Tyr392=)
c.939C>T (p.Tyr313=)
c.582C>T (p.Tyr194=)
c.1068C>T (p.Tyr356=)
12g.11885977T>ACA384044918ETV6c.1204T>A (p.Tyr402Asn)
c.41T>A
c.1201T>A (p.Tyr401Asn)
c.1177T>A (p.Tyr393Asn)
c.940T>A (p.Tyr314Asn)
c.583T>A (p.Tyr195Asn)
c.1069T>A (p.Tyr357Asn)
12g.11885977T>CCA384044919ETV6c.1204T>C (p.Tyr402His)
c.41T>C
c.1201T>C (p.Tyr401His)
c.1177T>C (p.Tyr393His)
c.940T>C (p.Tyr314His)
c.583T>C (p.Tyr195His)
c.1069T>C (p.Tyr357His)
12g.11885977T>GCA384044920ETV6c.1204T>G (p.Tyr402Asp)
c.41T>G
c.1201T>G (p.Tyr401Asp)
c.1177T>G (p.Tyr393Asp)
c.940T>G (p.Tyr314Asp)
c.583T>G (p.Tyr195Asp)
c.1069T>G (p.Tyr357Asp)
12g.11885978A>CCA384044923ETV6c.1205A>C (p.Tyr402Ser)
c.42A>C
c.1202A>C (p.Tyr401Ser)
c.1178A>C (p.Tyr393Ser)
c.941A>C (p.Tyr314Ser)
c.584A>C (p.Tyr195Ser)
c.1070A>C (p.Tyr357Ser)
12g.11885978A>GCA384044922ETV6c.1205A>G (p.Tyr402Cys)
c.42A>G
c.1202A>G (p.Tyr401Cys)
c.1178A>G (p.Tyr393Cys)
c.941A>G (p.Tyr314Cys)
c.584A>G (p.Tyr195Cys)
c.1070A>G (p.Tyr357Cys)
12g.11885978A>TCA384044921ETV6c.1205A>T (p.Tyr402Phe)
c.42A>T
c.1202A>T (p.Tyr401Phe)
c.1178A>T (p.Tyr393Phe)
c.941A>T (p.Tyr314Phe)
c.584A>T (p.Tyr195Phe)
c.1070A>T (p.Tyr357Phe)
12g.11885979C>ACA384044924ETV6c.1206C>A (p.Tyr402Ter)
c.43C>A
c.1203C>A (p.Tyr401Ter)
c.1179C>A (p.Tyr393Ter)
c.942C>A (p.Tyr314Ter)
c.585C>A (p.Tyr195Ter)
c.1071C>A (p.Tyr357Ter)
dbSNP
12g.11885979C>GCA384044925ETV6c.1206C>G (p.Tyr402Ter)
c.43C>G
c.1203C>G (p.Tyr401Ter)
c.1179C>G (p.Tyr393Ter)
c.942C>G (p.Tyr314Ter)
c.585C>G (p.Tyr195Ter)
c.1071C>G (p.Tyr357Ter)
12g.11885979C>TCA478767220ETV6c.1206C>T (p.Tyr402=)
c.43C>T
c.1203C>T (p.Tyr401=)
c.1179C>T (p.Tyr393=)
c.942C>T (p.Tyr314=)
c.585C>T (p.Tyr195=)
c.1071C>T (p.Tyr357=)
12g.11885980A>CCA384044926ETV6c.1207A>C (p.Lys403Gln)
c.44A>C
c.1204A>C (p.Lys402Gln)
c.1180A>C (p.Lys394Gln)
c.943A>C (p.Lys315Gln)
c.586A>C (p.Lys196Gln)
c.1072A>C (p.Lys358Gln)
12g.11885980A>GCA384044927ETV6c.1207A>G (p.Lys403Glu)
c.44A>G
c.1204A>G (p.Lys402Glu)
c.1180A>G (p.Lys394Glu)
c.943A>G (p.Lys315Glu)
c.586A>G (p.Lys196Glu)
c.1072A>G (p.Lys358Glu)
ClinVar COSMIC
12g.11885980A>TCA384044928ETV6c.1207A>T (p.Lys403Ter)
c.44A>T
c.1204A>T (p.Lys402Ter)
c.1180A>T (p.Lys394Ter)
c.943A>T (p.Lys315Ter)
c.586A>T (p.Lys196Ter)
c.1072A>T (p.Lys358Ter)
12g.11885981A>CCA384044929ETV6c.1208A>C (p.Lys403Thr)
c.45A>C
c.1205A>C (p.Lys402Thr)
c.1181A>C (p.Lys394Thr)
c.944A>C (p.Lys315Thr)
c.587A>C (p.Lys196Thr)
c.1073A>C (p.Lys358Thr)
12g.11885981A>GCA384044930ETV6c.1208A>G (p.Lys403Arg)
c.45A>G
c.1205A>G (p.Lys402Arg)
c.1181A>G (p.Lys394Arg)
c.944A>G (p.Lys315Arg)
c.587A>G (p.Lys196Arg)
c.1073A>G (p.Lys358Arg)
12g.11885981A>TCA384044931ETV6c.1208A>T (p.Lys403Ile)
c.45A>T
c.1205A>T (p.Lys402Ile)
c.1181A>T (p.Lys394Ile)
c.944A>T (p.Lys315Ile)
c.587A>T (p.Lys196Ile)
c.1073A>T (p.Lys358Ile)
12g.11885982A=CA2016648600ETV6c.1209A= (p.Lys403=)
c.46A=
c.1206A= (p.Lys402=)
c.1182A= (p.Lys394=)
c.945A= (p.Lys315=)
c.588A= (p.Lys196=)
c.1074A= (p.Lys358=)
12g.11885982A>CCA384044932ETV6c.1209A>C (p.Lys403Asn)
c.46A>C
c.1206A>C (p.Lys402Asn)
c.1182A>C (p.Lys394Asn)
c.945A>C (p.Lys315Asn)
c.588A>C (p.Lys196Asn)
c.1074A>C (p.Lys358Asn)
COSMIC
12g.11885982A>GCA6454429ETV6c.1209A>G (p.Lys403=)
c.46A>G
c.1206A>G (p.Lys402=)
c.1182A>G (p.Lys394=)
c.945A>G (p.Lys315=)
c.588A>G (p.Lys196=)
c.1074A>G (p.Lys358=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885982A>TCA384044933ETV6c.1209A>T (p.Lys403Asn)
c.46A>T
c.1206A>T (p.Lys402Asn)
c.1182A>T (p.Lys394Asn)
c.945A>T (p.Lys315Asn)
c.588A>T (p.Lys196Asn)
c.1074A>T (p.Lys358Asn)
12g.11885983C>ACA384044934ETV6c.1210C>A (p.Leu404Ile)
c.47C>A
c.1207C>A (p.Leu403Ile)
c.1183C>A (p.Leu395Ile)
c.946C>A (p.Leu316Ile)
c.589C>A (p.Leu197Ile)
c.1075C>A (p.Leu359Ile)
12g.11885983C>GCA384044935ETV6c.1210C>G (p.Leu404Val)
c.47C>G
c.1207C>G (p.Leu403Val)
c.1183C>G (p.Leu395Val)
c.946C>G (p.Leu316Val)
c.589C>G (p.Leu197Val)
c.1075C>G (p.Leu359Val)
12g.11885983C>TCA478767221ETV6c.1210C>T (p.Leu404=)
c.47C>T
c.1207C>T (p.Leu403=)
c.1183C>T (p.Leu395=)
c.946C>T (p.Leu316=)
c.589C>T (p.Leu197=)
c.1075C>T (p.Leu359=)
gnomAD v4
12g.11885984T>ACA384044937ETV6c.1211T>A (p.Leu404Gln)
c.48T>A
c.1208T>A (p.Leu403Gln)
c.1184T>A (p.Leu395Gln)
c.947T>A (p.Leu316Gln)
c.590T>A (p.Leu197Gln)
c.1076T>A (p.Leu359Gln)
12g.11885984T>CCA384044938ETV6c.1211T>C (p.Leu404Pro)
c.48T>C
c.1208T>C (p.Leu403Pro)
c.1184T>C (p.Leu395Pro)
c.947T>C (p.Leu316Pro)
c.590T>C (p.Leu197Pro)
c.1076T>C (p.Leu359Pro)
12g.11885984T>GCA384044936ETV6c.1211T>G (p.Leu404Arg)
c.48T>G
c.1208T>G (p.Leu403Arg)
c.1184T>G (p.Leu395Arg)
c.947T>G (p.Leu316Arg)
c.590T>G (p.Leu197Arg)
c.1076T>G (p.Leu359Arg)
12g.11885985A=CA2016648601ETV6c.1212A= (p.Leu404=)
c.49A=
c.1209A= (p.Leu403=)
c.1185A= (p.Leu395=)
c.948A= (p.Leu316=)
c.591A= (p.Leu197=)
c.1077A= (p.Leu359=)
12g.11885985A>CCA478767222ETV6c.1212A>C (p.Leu404=)
c.49A>C
c.1209A>C (p.Leu403=)
c.1185A>C (p.Leu395=)
c.948A>C (p.Leu316=)
c.591A>C (p.Leu197=)
c.1077A>C (p.Leu359=)
12g.11885985A>GCA6454430ETV6c.1212A>G (p.Leu404=)
c.49A>G
c.1209A>G (p.Leu403=)
c.1185A>G (p.Leu395=)
c.948A>G (p.Leu316=)
c.591A>G (p.Leu197=)
c.1077A>G (p.Leu359=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.11885985A>TCA478767223ETV6c.1212A>T (p.Leu404=)
c.49A>T
c.1209A>T (p.Leu403=)
c.1185A>T (p.Leu395=)
c.948A>T (p.Leu316=)
c.591A>T (p.Leu197=)
c.1077A>T (p.Leu359=)
12g.11885986A>CCA384044939ETV6c.1213A>C (p.Asn405His)
c.50A>C
c.1210A>C (p.Asn404His)
c.1186A>C (p.Asn396His)
c.949A>C (p.Asn317His)
c.592A>C (p.Asn198His)
c.1078A>C (p.Asn360His)
12g.11885986A>GCA384044940ETV6c.1213A>G (p.Asn405Asp)
c.50A>G
c.1210A>G (p.Asn404Asp)
c.1186A>G (p.Asn396Asp)
c.949A>G (p.Asn317Asp)
c.592A>G (p.Asn198Asp)
c.1078A>G (p.Asn360Asp)
12g.11885986A>TCA384044941ETV6c.1213A>T (p.Asn405Tyr)
c.50A>T
c.1210A>T (p.Asn404Tyr)
c.1186A>T (p.Asn396Tyr)
c.949A>T (p.Asn317Tyr)
c.592A>T (p.Asn198Tyr)
c.1078A>T (p.Asn360Tyr)
12g.11885987A>CCA384044942ETV6c.1214A>C (p.Asn405Thr)
c.51A>C
c.1211A>C (p.Asn404Thr)
c.1187A>C (p.Asn396Thr)
c.950A>C (p.Asn317Thr)
c.593A>C (p.Asn198Thr)
c.1079A>C (p.Asn360Thr)
12g.11885987A>GCA384044943ETV6c.1214A>G (p.Asn405Ser)
c.51A>G
c.1211A>G (p.Asn404Ser)
c.1187A>G (p.Asn396Ser)
c.950A>G (p.Asn317Ser)
c.593A>G (p.Asn198Ser)
c.1079A>G (p.Asn360Ser)
12g.11885987A>TCA384044944ETV6c.1214A>T (p.Asn405Ile)
c.51A>T
c.1211A>T (p.Asn404Ile)
c.1187A>T (p.Asn396Ile)
c.950A>T (p.Asn317Ile)
c.593A>T (p.Asn198Ile)
c.1079A>T (p.Asn360Ile)
12g.11885988C>ACA384044945ETV6c.1215C>A (p.Asn405Lys)
c.52C>A
c.1212C>A (p.Asn404Lys)
c.1188C>A (p.Asn396Lys)
c.951C>A (p.Asn317Lys)
c.594C>A (p.Asn198Lys)
c.1080C>A (p.Asn360Lys)
12g.11885988C=CA2016648602ETV6c.1215C= (p.Asn405=)
c.52C=
c.1212C= (p.Asn404=)
c.1188C= (p.Asn396=)
c.951C= (p.Asn317=)
c.594C= (p.Asn198=)
c.1080C= (p.Asn360=)
12g.11885988C>GCA384044946ETV6c.1215C>G (p.Asn405Lys)
c.52C>G
c.1212C>G (p.Asn404Lys)
c.1188C>G (p.Asn396Lys)
c.951C>G (p.Asn317Lys)
c.594C>G (p.Asn198Lys)
c.1080C>G (p.Asn360Lys)
dbSNP gnomAD v4
12g.11885988C>TCA478767224ETV6c.1215C>T (p.Asn405=)
c.52C>T
c.1212C>T (p.Asn404=)
c.1188C>T (p.Asn396=)
c.951C>T (p.Asn317=)
c.594C>T (p.Asn198=)
c.1080C>T (p.Asn360=)
gnomAD v4
12g.11885989A>CCA384044947ETV6c.1216A>C (p.Ile406Leu)
c.53A>C
c.1213A>C (p.Ile405Leu)
c.1189A>C (p.Ile397Leu)
c.952A>C (p.Ile318Leu)
c.595A>C (p.Ile199Leu)
c.1081A>C (p.Ile361Leu)
12g.11885989A>GCA384044948ETV6c.1216A>G (p.Ile406Val)
c.53A>G
c.1213A>G (p.Ile405Val)
c.1189A>G (p.Ile397Val)
c.952A>G (p.Ile318Val)
c.595A>G (p.Ile199Val)
c.1081A>G (p.Ile361Val)
12g.11885989A>TCA384044949ETV6c.1216A>T (p.Ile406Phe)
c.53A>T
c.1213A>T (p.Ile405Phe)
c.1189A>T (p.Ile397Phe)
c.952A>T (p.Ile318Phe)
c.595A>T (p.Ile199Phe)
c.1081A>T (p.Ile361Phe)
12g.11885991_11885993delCA2573053613ETV6c.1218_1220del (p.Ile407del)
c.55_57del
c.1215_1217del (p.Ile406del)
c.1191_1193del (p.Ile398del)
c.954_956del (p.Ile319del)
c.597_599del (p.Ile200del)
c.1083_1085del (p.Ile362del)
ClinVar dbSNP
12g.11885990T>ACA384044950ETV6c.1217T>A (p.Ile406Asn)
c.54T>A
c.1214T>A (p.Ile405Asn)
c.1190T>A (p.Ile397Asn)
c.953T>A (p.Ile318Asn)
c.596T>A (p.Ile199Asn)
c.1082T>A (p.Ile361Asn)
12g.11885990T>CCA384044951ETV6c.1217T>C (p.Ile406Thr)
c.54T>C
c.1214T>C (p.Ile405Thr)
c.1190T>C (p.Ile397Thr)
c.953T>C (p.Ile318Thr)
c.596T>C (p.Ile199Thr)
c.1082T>C (p.Ile361Thr)
12g.11885990T>GCA384044952ETV6c.1217T>G (p.Ile406Ser)
c.54T>G
c.1214T>G (p.Ile405Ser)
c.1190T>G (p.Ile397Ser)
c.953T>G (p.Ile318Ser)
c.596T>G (p.Ile199Ser)
c.1082T>G (p.Ile361Ser)
12g.11885991T>ACA478767225ETV6c.1218T>A (p.Ile406=)
c.55T>A
c.1215T>A (p.Ile405=)
c.1191T>A (p.Ile397=)
c.954T>A (p.Ile318=)
c.597T>A (p.Ile199=)
c.1083T>A (p.Ile361=)
gnomAD v4
12g.11885991T>CCA478767226ETV6c.1218T>C (p.Ile406=)
c.55T>C
c.1215T>C (p.Ile405=)
c.1191T>C (p.Ile397=)
c.954T>C (p.Ile318=)
c.597T>C (p.Ile199=)
c.1083T>C (p.Ile361=)
12g.11885991T>GCA384044953ETV6c.1218T>G (p.Ile406Met)
c.55T>G
c.1215T>G (p.Ile405Met)
c.1191T>G (p.Ile397Met)
c.954T>G (p.Ile318Met)
c.597T>G (p.Ile199Met)
c.1083T>G (p.Ile361Met)
12g.11885992A>CCA384044956ETV6c.1219A>C (p.Ile407Leu)
c.56A>C
c.1216A>C (p.Ile406Leu)
c.1192A>C (p.Ile398Leu)
c.955A>C (p.Ile319Leu)
c.598A>C (p.Ile200Leu)
c.1084A>C (p.Ile362Leu)
12g.11885992A>GCA384044954ETV6c.1219A>G (p.Ile407Val)
c.56A>G
c.1216A>G (p.Ile406Val)
c.1192A>G (p.Ile398Val)
c.955A>G (p.Ile319Val)
c.598A>G (p.Ile200Val)
c.1084A>G (p.Ile362Val)
12g.11885992A>TCA384044955ETV6c.1219A>T (p.Ile407Phe)
c.56A>T
c.1216A>T (p.Ile406Phe)
c.1192A>T (p.Ile398Phe)
c.955A>T (p.Ile319Phe)
c.598A>T (p.Ile200Phe)
c.1084A>T (p.Ile362Phe)
12g.11885993T>ACA384044957ETV6c.1220T>A (p.Ile407Asn)
c.57T>A
c.1217T>A (p.Ile406Asn)
c.1193T>A (p.Ile398Asn)
c.956T>A (p.Ile319Asn)
c.599T>A (p.Ile200Asn)
c.1085T>A (p.Ile362Asn)
12g.11885993T>CCA384044958ETV6c.1220T>C (p.Ile407Thr)
c.57T>C
c.1217T>C (p.Ile406Thr)
c.1193T>C (p.Ile398Thr)
c.956T>C (p.Ile319Thr)
c.599T>C (p.Ile200Thr)
c.1085T>C (p.Ile362Thr)
12g.11885993T>GCA384044959ETV6c.1220T>G (p.Ile407Ser)
c.57T>G
c.1217T>G (p.Ile406Ser)
c.1193T>G (p.Ile398Ser)
c.956T>G (p.Ile319Ser)
c.599T>G (p.Ile200Ser)
c.1085T>G (p.Ile362Ser)
12g.11885994C>ACA478767227ETV6c.1221C>A (p.Ile407=)
c.58C>A
c.1218C>A (p.Ile406=)
c.1194C>A (p.Ile398=)
c.957C>A (p.Ile319=)
c.600C>A (p.Ile200=)
c.1086C>A (p.Ile362=)
12g.11885994C>GCA384044960ETV6c.1221C>G (p.Ile407Met)
c.58C>G
c.1218C>G (p.Ile406Met)
c.1194C>G (p.Ile398Met)
c.957C>G (p.Ile319Met)
c.600C>G (p.Ile200Met)
c.1086C>G (p.Ile362Met)
dbSNP gnomAD v4
12g.11885994C>TCA478767228ETV6c.1221C>T (p.Ile407=)
c.58C>T
c.1218C>T (p.Ile406=)
c.1194C>T (p.Ile398=)
c.957C>T (p.Ile319=)
c.600C>T (p.Ile200=)
c.1086C>T (p.Ile362=)
12g.11885995A=CA2016648603ETV6c.1222A= (p.Arg408=)
c.59A=
c.1219A= (p.Arg407=)
c.1195A= (p.Arg399=)
c.958A= (p.Arg320=)
c.601A= (p.Arg201=)
c.1087A= (p.Arg363=)
12g.11885995A>CCA6454431ETV6c.1222A>C (p.Arg408=)
c.59A>C
c.1219A>C (p.Arg407=)
c.1195A>C (p.Arg399=)
c.958A>C (p.Arg320=)
c.601A>C (p.Arg201=)
c.1087A>C (p.Arg363=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.11885995A>GCA384044961ETV6c.1222A>G (p.Arg408Gly)
c.59A>G
c.1219A>G (p.Arg407Gly)
c.1195A>G (p.Arg399Gly)
c.958A>G (p.Arg320Gly)
c.601A>G (p.Arg201Gly)
c.1087A>G (p.Arg363Gly)
12g.11885995A>TCA384044962ETV6c.1222A>T (p.Arg408Trp)
c.59A>T
c.1219A>T (p.Arg407Trp)
c.1195A>T (p.Arg399Trp)
c.958A>T (p.Arg320Trp)
c.601A>T (p.Arg201Trp)
c.1087A>T (p.Arg363Trp)
dbSNP
12g.11885996G>ACA384044963ETV6c.1223G>A (p.Arg408Lys)
c.60G>A
c.1220G>A (p.Arg407Lys)
c.1196G>A (p.Arg399Lys)
c.959G>A (p.Arg320Lys)
c.602G>A (p.Arg201Lys)
c.1088G>A (p.Arg363Lys)
dbSNP
12g.11885996G>CCA384044964ETV6c.1223G>C (p.Arg408Thr)
c.60G>C
c.1220G>C (p.Arg407Thr)
c.1196G>C (p.Arg399Thr)
c.959G>C (p.Arg320Thr)
c.602G>C (p.Arg201Thr)
c.1088G>C (p.Arg363Thr)
12g.11885996G=CA2016648604ETV6c.1223G= (p.Arg408=)
c.60G=
c.1220G= (p.Arg407=)
c.1196G= (p.Arg399=)
c.959G= (p.Arg320=)
c.602G= (p.Arg201=)
c.1088G= (p.Arg363=)
12g.11885996G>TCA384044965ETV6c.1223G>T (p.Arg408Met)
c.60G>T
c.1220G>T (p.Arg407Met)
c.1196G>T (p.Arg399Met)
c.959G>T (p.Arg320Met)
c.602G>T (p.Arg201Met)
c.1088G>T (p.Arg363Met)
gnomAD v4
12g.11885997G>ACA478767229ETV6c.1224G>A (p.Arg408=)
c.61G>A
c.1221G>A (p.Arg407=)
c.1197G>A (p.Arg399=)
c.960G>A (p.Arg320=)
c.603G>A (p.Arg201=)
c.1089G>A (p.Arg363=)
12g.11885997G>CCA384044966ETV6c.1224G>C (p.Arg408Ser)
c.61G>C
c.1221G>C (p.Arg407Ser)
c.1197G>C (p.Arg399Ser)
c.960G>C (p.Arg320Ser)
c.603G>C (p.Arg201Ser)
c.1089G>C (p.Arg363Ser)
12g.11885997G>TCA384044967ETV6c.1224G>T (p.Arg408Ser)
c.61G>T
c.1221G>T (p.Arg407Ser)
c.1197G>T (p.Arg399Ser)
c.960G>T (p.Arg320Ser)
c.603G>T (p.Arg201Ser)
c.1089G>T (p.Arg363Ser)
12g.11885998A>CCA384044968ETV6c.1225A>C (p.Lys409Gln)
c.62A>C
c.1222A>C (p.Lys408Gln)
c.1198A>C (p.Lys400Gln)
c.961A>C (p.Lys321Gln)
c.604A>C (p.Lys202Gln)
c.1090A>C (p.Lys364Gln)
12g.11885998A>GCA384044970ETV6c.1225A>G (p.Lys409Glu)
c.62A>G
c.1222A>G (p.Lys408Glu)
c.1198A>G (p.Lys400Glu)
c.961A>G (p.Lys321Glu)
c.604A>G (p.Lys202Glu)
c.1090A>G (p.Lys364Glu)
COSMIC
12g.11885998A>TCA384044969ETV6c.1225A>T (p.Lys409Ter)
c.62A>T
c.1222A>T (p.Lys408Ter)
c.1198A>T (p.Lys400Ter)
c.961A>T (p.Lys321Ter)
c.604A>T (p.Lys202Ter)
c.1090A>T (p.Lys364Ter)
12g.11885999A>CCA384044971ETV6c.1226A>C (p.Lys409Thr)
c.63A>C
c.1223A>C (p.Lys408Thr)
c.1199A>C (p.Lys400Thr)
c.962A>C (p.Lys321Thr)
c.605A>C (p.Lys202Thr)
c.1091A>C (p.Lys364Thr)
12g.11885999A>GCA384044972ETV6c.1226A>G (p.Lys409Arg)
c.63A>G
c.1223A>G (p.Lys408Arg)
c.1199A>G (p.Lys400Arg)
c.962A>G (p.Lys321Arg)
c.605A>G (p.Lys202Arg)
c.1091A>G (p.Lys364Arg)
12g.11885999A>TCA384044973ETV6c.1226A>T (p.Lys409Met)
c.63A>T
c.1223A>T (p.Lys408Met)
c.1199A>T (p.Lys400Met)
c.962A>T (p.Lys321Met)
c.605A>T (p.Lys202Met)
c.1091A>T (p.Lys364Met)
12g.11886000G>ACA232637541ETV6c.1227G>A (p.Lys409=)
c.64G>A
c.1224G>A (p.Lys408=)
c.1200G>A (p.Lys400=)
c.963G>A (p.Lys321=)
c.606G>A (p.Lys202=)
c.1092G>A (p.Lys364=)
dbSNP gnomAD v4
12g.11886000G>CCA384044974ETV6c.1227G>C (p.Lys409Asn)
c.64G>C
c.1224G>C (p.Lys408Asn)
c.1200G>C (p.Lys400Asn)
c.963G>C (p.Lys321Asn)
c.606G>C (p.Lys202Asn)
c.1092G>C (p.Lys364Asn)
dbSNP
12g.11886000G=CA2016648605ETV6c.1227G= (p.Lys409=)
c.64G=
c.1224G= (p.Lys408=)
c.1200G= (p.Lys400=)
c.963G= (p.Lys321=)
c.606G= (p.Lys202=)
c.1092G= (p.Lys364=)
12g.11886000G>TCA384044975ETV6c.1227G>T (p.Lys409Asn)
c.64G>T
c.1224G>T (p.Lys408Asn)
c.1200G>T (p.Lys400Asn)
c.963G>T (p.Lys321Asn)
c.606G>T (p.Lys202Asn)
c.1092G>T (p.Lys364Asn)
12g.11886001G>ACA384044976ETV6c.1228G>A (p.Glu410Lys)
c.65G>A
c.1225G>A (p.Glu409Lys)
c.1201G>A (p.Glu401Lys)
c.964G>A (p.Glu322Lys)
c.607G>A (p.Glu203Lys)
c.1093G>A (p.Glu365Lys)
12g.11886001G>CCA384044977ETV6c.1228G>C (p.Glu410Gln)
c.65G>C
c.1225G>C (p.Glu409Gln)
c.1201G>C (p.Glu401Gln)
c.964G>C (p.Glu322Gln)
c.607G>C (p.Glu203Gln)
c.1093G>C (p.Glu365Gln)
12g.11886001G>TCA384044979ETV6c.1228G>T (p.Glu410Ter)
c.65G>T
c.1225G>T (p.Glu409Ter)
c.1201G>T (p.Glu401Ter)
c.964G>T (p.Glu322Ter)
c.607G>T (p.Glu203Ter)
c.1093G>T (p.Glu365Ter)
12g.11886002A>CCA384044980ETV6c.1229A>C (p.Glu410Ala)
c.66A>C
c.1226A>C (p.Glu409Ala)
c.1202A>C (p.Glu401Ala)
c.965A>C (p.Glu322Ala)
c.608A>C (p.Glu203Ala)
c.1094A>C (p.Glu365Ala)
12g.11886002A>GCA384044981ETV6c.1229A>G (p.Glu410Gly)
c.66A>G
c.1226A>G (p.Glu409Gly)
c.1202A>G (p.Glu401Gly)
c.965A>G (p.Glu322Gly)
c.608A>G (p.Glu203Gly)
c.1094A>G (p.Glu365Gly)
12g.11886002A>TCA384044982ETV6c.1229A>T (p.Glu410Val)
c.66A>T
c.1226A>T (p.Glu409Val)
c.1202A>T (p.Glu401Val)
c.965A>T (p.Glu322Val)
c.608A>T (p.Glu203Val)
c.1094A>T (p.Glu365Val)
12g.11886003G>ACA478767230ETV6c.1230G>A (p.Glu410=)
c.67G>A
c.1227G>A (p.Glu409=)
c.1203G>A (p.Glu401=)
c.966G>A (p.Glu322=)
c.609G>A (p.Glu203=)
c.1095G>A (p.Glu365=)
12g.11886003G>CCA384044983ETV6c.1230G>C (p.Glu410Asp)
c.67G>C
c.1227G>C (p.Glu409Asp)
c.1203G>C (p.Glu401Asp)
c.966G>C (p.Glu322Asp)
c.609G>C (p.Glu203Asp)
c.1095G>C (p.Glu365Asp)
12g.11886003G>TCA384044984ETV6c.1230G>T (p.Glu410Asp)
c.67G>T
c.1227G>T (p.Glu409Asp)
c.1203G>T (p.Glu401Asp)
c.966G>T (p.Glu322Asp)
c.609G>T (p.Glu203Asp)
c.1095G>T (p.Glu365Asp)
12g.11886004C>ACA384044987ETV6c.1231C>A (p.Pro411Thr)
c.68C>A
c.1228C>A (p.Pro410Thr)
c.1204C>A (p.Pro402Thr)
c.967C>A (p.Pro323Thr)
c.610C>A (p.Pro204Thr)
c.1096C>A (p.Pro366Thr)
dbSNP
12g.11886004C>GCA384044985ETV6c.1231C>G (p.Pro411Ala)
c.68C>G
c.1228C>G (p.Pro410Ala)
c.1204C>G (p.Pro402Ala)
c.967C>G (p.Pro323Ala)
c.610C>G (p.Pro204Ala)
c.1096C>G (p.Pro366Ala)
12g.11886004C>TCA384044986ETV6c.1231C>T (p.Pro411Ser)
c.68C>T
c.1228C>T (p.Pro410Ser)
c.1204C>T (p.Pro402Ser)
c.967C>T (p.Pro323Ser)
c.610C>T (p.Pro204Ser)
c.1096C>T (p.Pro366Ser)
dbSNP
12g.11886005delCA2725554087ETV6c.1232del (p.Pro411GlnfsTer10)
c.69del
c.1229del (p.Pro410GlnfsTer10)
c.1205del (p.Pro402GlnfsTer10)
c.968del (p.Pro323GlnfsTer10)
c.611del (p.Pro204GlnfsTer10)
c.1097del (p.Pro366GlnfsTer10)
dbSNP
12g.11886005C>ACA384044988ETV6c.1232C>A (p.Pro411Gln)
c.69C>A
c.1229C>A (p.Pro410Gln)
c.1205C>A (p.Pro402Gln)
c.968C>A (p.Pro323Gln)
c.611C>A (p.Pro204Gln)
c.1097C>A (p.Pro366Gln)
12g.11886005C=CA2016648606ETV6c.1232C= (p.Pro411=)
c.69C=
c.1229C= (p.Pro410=)
c.1205C= (p.Pro402=)
c.968C= (p.Pro323=)
c.611C= (p.Pro204=)
c.1097C= (p.Pro366=)
12g.11886005C>GCA384044989ETV6c.1232C>G (p.Pro411Arg)
c.69C>G
c.1229C>G (p.Pro410Arg)
c.1205C>G (p.Pro402Arg)
c.968C>G (p.Pro323Arg)
c.611C>G (p.Pro204Arg)
c.1097C>G (p.Pro366Arg)
12g.11886005C>TCA384044990ETV6c.1232C>T (p.Pro411Leu)
c.69C>T
c.1229C>T (p.Pro410Leu)
c.1205C>T (p.Pro402Leu)
c.968C>T (p.Pro323Leu)
c.611C>T (p.Pro204Leu)
c.1097C>T (p.Pro366Leu)
dbSNP gnomAD v2 gnomAD v4
12g.11886006A=CA2016648607ETV6c.1233A= (p.Pro411=)
c.70A=
c.1230A= (p.Pro410=)
c.1206A= (p.Pro402=)
c.969A= (p.Pro323=)
c.612A= (p.Pro204=)
c.1098A= (p.Pro366=)
12g.11886006A>CCA478767231ETV6c.1233A>C (p.Pro411=)
c.70A>C
c.1230A>C (p.Pro410=)
c.1206A>C (p.Pro402=)
c.969A>C (p.Pro323=)
c.612A>C (p.Pro204=)
c.1098A>C (p.Pro366=)
COSMIC
12g.11886006A>GCA478767232ETV6c.1233A>G (p.Pro411=)
c.70A>G
c.1230A>G (p.Pro410=)
c.1206A>G (p.Pro402=)
c.969A>G (p.Pro323=)
c.612A>G (p.Pro204=)
c.1098A>G (p.Pro366=)
ClinVar dbSNP
12g.11886006A>TCA478767233ETV6c.1233A>T (p.Pro411=)
c.70A>T
c.1230A>T (p.Pro410=)
c.1206A>T (p.Pro402=)
c.969A>T (p.Pro323=)
c.612A>T (p.Pro204=)
c.1098A>T (p.Pro366=)
12g.11886007G>ACA384044991ETV6c.1234G>A (p.Gly412Arg)
c.71G>A
c.1231G>A (p.Gly411Arg)
c.1207G>A (p.Gly403Arg)
c.970G>A (p.Gly324Arg)
c.613G>A (p.Gly205Arg)
c.1099G>A (p.Gly367Arg)
dbSNP COSMIC
12g.11886007G>CCA384044992ETV6c.1234G>C (p.Gly412Arg)
c.71G>C
c.1231G>C (p.Gly411Arg)
c.1207G>C (p.Gly403Arg)
c.970G>C (p.Gly324Arg)
c.613G>C (p.Gly205Arg)
c.1099G>C (p.Gly367Arg)
12g.11886007G>TCA384044993ETV6c.1234G>T (p.Gly412Ter)
c.71G>T
c.1231G>T (p.Gly411Ter)
c.1207G>T (p.Gly403Ter)
c.970G>T (p.Gly324Ter)
c.613G>T (p.Gly205Ter)
c.1099G>T (p.Gly367Ter)
12g.11886008G>ACA384044994ETV6c.1235G>A (p.Gly412Glu)
c.72G>A
c.1232G>A (p.Gly411Glu)
c.1208G>A (p.Gly403Glu)
c.971G>A (p.Gly324Glu)
c.614G>A (p.Gly205Glu)
c.1100G>A (p.Gly367Glu)
gnomAD v4
12g.11886008G>CCA384044995ETV6c.1235G>C (p.Gly412Ala)
c.72G>C
c.1232G>C (p.Gly411Ala)
c.1208G>C (p.Gly403Ala)
c.971G>C (p.Gly324Ala)
c.614G>C (p.Gly205Ala)
c.1100G>C (p.Gly367Ala)
12g.11886008G>TCA384044996ETV6c.1235G>T (p.Gly412Val)
c.72G>T
c.1232G>T (p.Gly411Val)
c.1208G>T (p.Gly403Val)
c.971G>T (p.Gly324Val)
c.614G>T (p.Gly205Val)
c.1100G>T (p.Gly367Val)
12g.11886009A>CCA478767234ETV6c.1236A>C (p.Gly412=)
c.73A>C
c.1233A>C (p.Gly411=)
c.1209A>C (p.Gly403=)
c.972A>C (p.Gly324=)
c.615A>C (p.Gly205=)
c.1101A>C (p.Gly367=)
12g.11886009A>GCA478767235ETV6c.1236A>G (p.Gly412=)
c.73A>G
c.1233A>G (p.Gly411=)
c.1209A>G (p.Gly403=)
c.972A>G (p.Gly324=)
c.615A>G (p.Gly205=)
c.1101A>G (p.Gly367=)
12g.11886009A>TCA478767236ETV6c.1236A>T (p.Gly412=)
c.73A>T
c.1233A>T (p.Gly411=)
c.1209A>T (p.Gly403=)
c.972A>T (p.Gly324=)
c.615A>T (p.Gly205=)
c.1101A>T (p.Gly367=)
12g.11886010C>ACA384044997ETV6c.1237C>A (p.Gln413Lys)
c.74C>A
c.1234C>A (p.Gln412Lys)
c.1210C>A (p.Gln404Lys)
c.973C>A (p.Gln325Lys)
c.616C>A (p.Gln206Lys)
c.1102C>A (p.Gln368Lys)
12g.11886010C>GCA384044998ETV6c.1237C>G (p.Gln413Glu)
c.74C>G
c.1234C>G (p.Gln412Glu)
c.1210C>G (p.Gln404Glu)
c.973C>G (p.Gln325Glu)
c.616C>G (p.Gln206Glu)
c.1102C>G (p.Gln368Glu)
12g.11886010C>TCA384044999ETV6c.1237C>T (p.Gln413Ter)
c.74C>T
c.1234C>T (p.Gln412Ter)
c.1210C>T (p.Gln404Ter)
c.973C>T (p.Gln325Ter)
c.616C>T (p.Gln206Ter)
c.1102C>T (p.Gln368Ter)
ClinVar
12g.11886011A>CCA384045000ETV6c.1238A>C (p.Gln413Pro)
c.75A>C
c.1235A>C (p.Gln412Pro)
c.1211A>C (p.Gln404Pro)
c.974A>C (p.Gln325Pro)
c.617A>C (p.Gln206Pro)
c.1103A>C (p.Gln368Pro)
12g.11886011A>GCA384045002ETV6c.1238A>G (p.Gln413Arg)
c.75A>G
c.1235A>G (p.Gln412Arg)
c.1211A>G (p.Gln404Arg)
c.974A>G (p.Gln325Arg)
c.617A>G (p.Gln206Arg)
c.1103A>G (p.Gln368Arg)
12g.11886011A>TCA384045001ETV6c.1238A>T (p.Gln413Leu)
c.75A>T
c.1235A>T (p.Gln412Leu)
c.1211A>T (p.Gln404Leu)
c.974A>T (p.Gln325Leu)
c.617A>T (p.Gln206Leu)
c.1103A>T (p.Gln368Leu)
12g.11886012A=CA2016648608ETV6c.1239A= (p.Gln413=)
c.76A=
c.1236A= (p.Gln412=)
c.1212A= (p.Gln404=)
c.975A= (p.Gln325=)
c.618A= (p.Gln206=)
c.1104A= (p.Gln368=)
12g.11886012A>CCA384045003ETV6c.1239A>C (p.Gln413His)
c.76A>C
c.1236A>C (p.Gln412His)
c.1212A>C (p.Gln404His)
c.975A>C (p.Gln325His)
c.618A>C (p.Gln206His)
c.1104A>C (p.Gln368His)
dbSNP
12g.11886012A>GCA478767237ETV6c.1239A>G (p.Gln413=)
c.76A>G
c.1236A>G (p.Gln412=)
c.1212A>G (p.Gln404=)
c.975A>G (p.Gln325=)
c.618A>G (p.Gln206=)
c.1104A>G (p.Gln368=)
dbSNP gnomAD v2 gnomAD v4
12g.11886012A>TCA384045004ETV6c.1239A>T (p.Gln413His)
c.76A>T
c.1236A>T (p.Gln412His)
c.1212A>T (p.Gln404His)
c.975A>T (p.Gln325His)
c.618A>T (p.Gln206His)
c.1104A>T (p.Gln368His)
12g.11886013A>CCA478767238ETV6c.1240A>C (p.Arg414=)
c.77A>C
c.1237A>C (p.Arg413=)
c.1213A>C (p.Arg405=)
c.976A>C (p.Arg326=)
c.619A>C (p.Arg207=)
c.1105A>C (p.Arg369=)
12g.11886013A>GCA384045005ETV6c.1240A>G (p.Arg414Gly)
c.77A>G
c.1237A>G (p.Arg413Gly)
c.1213A>G (p.Arg405Gly)
c.976A>G (p.Arg326Gly)
c.619A>G (p.Arg207Gly)
c.1105A>G (p.Arg369Gly)
12g.11886013A>TCA384045006ETV6c.1240A>T (p.Arg414Trp)
c.77A>T
c.1237A>T (p.Arg413Trp)
c.1213A>T (p.Arg405Trp)
c.976A>T (p.Arg326Trp)
c.619A>T (p.Arg207Trp)
c.1105A>T (p.Arg369Trp)
12g.11886014G>ACA384045007ETV6c.1241G>A (p.Arg414Lys)
c.78G>A
c.1238G>A (p.Arg413Lys)
c.1214G>A (p.Arg405Lys)
c.977G>A (p.Arg326Lys)
c.620G>A (p.Arg207Lys)
c.1106G>A (p.Arg369Lys)
dbSNP
12g.11886014G>CCA384045009ETV6c.1241G>C (p.Arg414Thr)
c.78G>C
c.1238G>C (p.Arg413Thr)
c.1214G>C (p.Arg405Thr)
c.977G>C (p.Arg326Thr)
c.620G>C (p.Arg207Thr)
c.1106G>C (p.Arg369Thr)
12g.11886014G>TCA384045008ETV6c.1241G>T (p.Arg414Met)
c.78G>T
c.1238G>T (p.Arg413Met)
c.1214G>T (p.Arg405Met)
c.977G>T (p.Arg326Met)
c.620G>T (p.Arg207Met)
c.1106G>T (p.Arg369Met)
12g.11886015G>ACA478767239ETV6c.1242G>A (p.Arg414=)
c.79G>A
c.1239G>A (p.Arg413=)
c.1215G>A (p.Arg405=)
c.978G>A (p.Arg326=)
c.621G>A (p.Arg207=)
c.1107G>A (p.Arg369=)
ClinVar
12g.11886015G>CCA384045010ETV6c.1242G>C (p.Arg414Ser)
c.79G>C
c.1239G>C (p.Arg413Ser)
c.1215G>C (p.Arg405Ser)
c.978G>C (p.Arg326Ser)
c.621G>C (p.Arg207Ser)
c.1107G>C (p.Arg369Ser)
12g.11886015G>TCA384045011ETV6c.1242G>T (p.Arg414Ser)
c.79G>T
c.1239G>T (p.Arg413Ser)
c.1215G>T (p.Arg405Ser)
c.978G>T (p.Arg326Ser)
c.621G>T (p.Arg207Ser)
c.1107G>T (p.Arg369Ser)
12g.11886016C>ACA384045012ETV6c.1243C>A (p.Leu415Ile)
c.80C>A
c.1240C>A (p.Leu414Ile)
c.1216C>A (p.Leu406Ile)
c.979C>A (p.Leu327Ile)
c.622C>A (p.Leu208Ile)
c.1108C>A (p.Leu370Ile)
12g.11886016C>GCA384045013ETV6c.1243C>G (p.Leu415Val)
c.80C>G
c.1240C>G (p.Leu414Val)
c.1216C>G (p.Leu406Val)
c.979C>G (p.Leu327Val)
c.622C>G (p.Leu208Val)
c.1108C>G (p.Leu370Val)
COSMIC
12g.11886016C>TCA384045014ETV6c.1243C>T (p.Leu415Phe)
c.80C>T
c.1240C>T (p.Leu414Phe)
c.1216C>T (p.Leu406Phe)
c.979C>T (p.Leu327Phe)
c.622C>T (p.Leu208Phe)
c.1108C>T (p.Leu370Phe)
12g.11886017T>ACA384045015ETV6c.1244T>A (p.Leu415His)
c.81T>A
c.1241T>A (p.Leu414His)
c.1217T>A (p.Leu406His)
c.980T>A (p.Leu327His)
c.623T>A (p.Leu208His)
c.1109T>A (p.Leu370His)
12g.11886017T>CCA384045016ETV6c.1244T>C (p.Leu415Pro)
c.81T>C
c.1241T>C (p.Leu414Pro)
c.1217T>C (p.Leu406Pro)
c.980T>C (p.Leu327Pro)
c.623T>C (p.Leu208Pro)
c.1109T>C (p.Leu370Pro)
12g.11886017T>GCA384045017ETV6c.1244T>G (p.Leu415Arg)
c.81T>G
c.1241T>G (p.Leu414Arg)
c.1217T>G (p.Leu406Arg)
c.980T>G (p.Leu327Arg)
c.623T>G (p.Leu208Arg)
c.1109T>G (p.Leu370Arg)
12g.11886018T>ACA478767240ETV6c.1245T>A (p.Leu415=)
c.82T>A
c.1242T>A (p.Leu414=)
c.1218T>A (p.Leu406=)
c.981T>A (p.Leu327=)
c.624T>A (p.Leu208=)
c.1110T>A (p.Leu370=)
12g.11886018T>CCA478767241ETV6c.1245T>C (p.Leu415=)
c.82T>C
c.1242T>C (p.Leu414=)
c.1218T>C (p.Leu406=)
c.981T>C (p.Leu327=)
c.624T>C (p.Leu208=)
c.1110T>C (p.Leu370=)
12g.11886018T>GCA478767242ETV6c.1245T>G (p.Leu415=)
c.82T>G
c.1242T>G (p.Leu414=)
c.1218T>G (p.Leu406=)
c.981T>G (p.Leu327=)
c.624T>G (p.Leu208=)
c.1110T>G (p.Leu370=)
12g.11886018_11886021delinsTTTGCA2016648609ETV6c.1245_1248delinsTTTG (p.Leu415=)
c.82_85delinsTTTG
c.1242_1245delinsTTTG (p.Leu414=)
c.1218_1221delinsTTTG (p.Leu406=)
c.981_984delinsTTTG (p.Leu327=)
c.624_627delinsTTTG (p.Leu208=)
c.1110_1113delinsTTTG (p.Leu370=)
12g.11886019T>ACA384045018ETV6c.1246T>A (p.Leu416Met)
c.83T>A
c.1243T>A (p.Leu415Met)
c.1219T>A (p.Leu407Met)
c.982T>A (p.Leu328Met)
c.625T>A (p.Leu209Met)
c.1111T>A (p.Leu371Met)
dbSNP gnomAD v4
12g.11886019T>CCA478767243ETV6c.1246T>C (p.Leu416=)
c.83T>C
c.1243T>C (p.Leu415=)
c.1219T>C (p.Leu407=)
c.982T>C (p.Leu328=)
c.625T>C (p.Leu209=)
c.1111T>C (p.Leu371=)
12g.11886019T>GCA384045019ETV6c.1246T>G (p.Leu416Val)
c.83T>G
c.1243T>G (p.Leu415Val)
c.1219T>G (p.Leu407Val)
c.982T>G (p.Leu328Val)
c.625T>G (p.Leu209Val)
c.1111T>G (p.Leu371Val)
dbSNP
12g.11886019T=CA2016648610ETV6c.1246T= (p.Leu416=)
c.83T=
c.1243T= (p.Leu415=)
c.1219T= (p.Leu407=)
c.982T= (p.Leu328=)
c.625T= (p.Leu209=)
c.1111T= (p.Leu371=)
12g.11886021_11886023delCA603418310ETV6c.1248_1250del (p.Leu416del)
c.85_87del
c.1245_1247del (p.Leu415del)
c.1221_1223del (p.Leu407del)
c.984_986del (p.Leu328del)
c.627_629del (p.Leu209del)
c.1113_1115del (p.Leu371del)
dbSNP gnomAD v2 gnomAD v4
12g.11886020T>ACA384045020ETV6c.1247T>A (p.Leu416Ter)
c.84T>A
c.1244T>A (p.Leu415Ter)
c.1220T>A (p.Leu407Ter)
c.983T>A (p.Leu328Ter)
c.626T>A (p.Leu209Ter)
c.1112T>A (p.Leu371Ter)
12g.11886020T>CCA384045021ETV6c.1247T>C (p.Leu416Ser)
c.84T>C
c.1244T>C (p.Leu415Ser)
c.1220T>C (p.Leu407Ser)
c.983T>C (p.Leu328Ser)
c.626T>C (p.Leu209Ser)
c.1112T>C (p.Leu371Ser)
12g.11886020T>GCA384045022ETV6c.1247T>G (p.Leu416Trp)
c.84T>G
c.1244T>G (p.Leu415Trp)
c.1220T>G (p.Leu407Trp)
c.983T>G (p.Leu328Trp)
c.626T>G (p.Leu209Trp)
c.1112T>G (p.Leu371Trp)
12g.11886020_11886025dupCA2617675076ETV6c.1247_1252dup (p.Phe417_Arg418insMetPhe)
c.84_89dup
c.1244_1249dup (p.Phe416_Arg417insMetPhe)
c.1220_1225dup (p.Phe408_Arg409insMetPhe)
c.983_988dup (p.Phe329_Arg330insMetPhe)
c.626_631dup (p.Phe210_Arg211insMetPhe)
c.1112_1117dup (p.Phe372_Arg373insMetPhe)
gnomAD v4
12g.11886021G>ACA478767244ETV6c.1248G>A (p.Leu416=)
c.85G>A
c.1245G>A (p.Leu415=)
c.1221G>A (p.Leu407=)
c.984G>A (p.Leu328=)
c.627G>A (p.Leu209=)
c.1113G>A (p.Leu371=)
gnomAD v4
12g.11886021G>CCA384045023ETV6c.1248G>C (p.Leu416Phe)
c.85G>C
c.1245G>C (p.Leu415Phe)
c.1221G>C (p.Leu407Phe)
c.984G>C (p.Leu328Phe)
c.627G>C (p.Leu209Phe)
c.1113G>C (p.Leu371Phe)
12g.11886021G>TCA384045024ETV6c.1248G>T (p.Leu416Phe)
c.85G>T
c.1245G>T (p.Leu415Phe)
c.1221G>T (p.Leu407Phe)
c.984G>T (p.Leu328Phe)
c.627G>T (p.Leu209Phe)
c.1113G>T (p.Leu371Phe)
12g.11886022T>ACA384045027ETV6c.1249T>A (p.Phe417Ile)
c.86T>A
c.1246T>A (p.Phe416Ile)
c.1222T>A (p.Phe408Ile)
c.985T>A (p.Phe329Ile)
c.628T>A (p.Phe210Ile)
c.1114T>A (p.Phe372Ile)
12g.11886022T>CCA384045026ETV6c.1249T>C (p.Phe417Leu)
c.86T>C
c.1246T>C (p.Phe416Leu)
c.1222T>C (p.Phe408Leu)
c.985T>C (p.Phe329Leu)
c.628T>C (p.Phe210Leu)
c.1114T>C (p.Phe372Leu)
12g.11886022T>GCA384045025ETV6c.1249T>G (p.Phe417Val)
c.86T>G
c.1246T>G (p.Phe416Val)
c.1222T>G (p.Phe408Val)
c.985T>G (p.Phe329Val)
c.628T>G (p.Phe210Val)
c.1114T>G (p.Phe372Val)
12g.11886023T>ACA384045028ETV6c.1250T>A (p.Phe417Tyr)
c.87T>A
c.1247T>A (p.Phe416Tyr)
c.1223T>A (p.Phe408Tyr)
c.986T>A (p.Phe329Tyr)
c.629T>A (p.Phe210Tyr)
c.1115T>A (p.Phe372Tyr)
12g.11886023T>CCA384045029ETV6c.1250T>C (p.Phe417Ser)
c.87T>C
c.1247T>C (p.Phe416Ser)
c.1223T>C (p.Phe408Ser)
c.986T>C (p.Phe329Ser)
c.629T>C (p.Phe210Ser)
c.1115T>C (p.Phe372Ser)
12g.11886023T>GCA384045030ETV6c.1250T>G (p.Phe417Cys)
c.87T>G
c.1247T>G (p.Phe416Cys)
c.1223T>G (p.Phe408Cys)
c.986T>G (p.Phe329Cys)
c.629T>G (p.Phe210Cys)
c.1115T>G (p.Phe372Cys)
COSMIC
12g.11886024C>ACA384045031ETV6c.1251C>A (p.Phe417Leu)
c.88C>A
c.1248C>A (p.Phe416Leu)
c.1224C>A (p.Phe408Leu)
c.987C>A (p.Phe329Leu)
c.630C>A (p.Phe210Leu)
c.1116C>A (p.Phe372Leu)
gnomAD v4
12g.11886024C=CA2016648611ETV6c.1251C= (p.Phe417=)
c.88C=
c.1248C= (p.Phe416=)
c.1224C= (p.Phe408=)
c.987C= (p.Phe329=)
c.630C= (p.Phe210=)
c.1116C= (p.Phe372=)
12g.11886024C>GCA384045032ETV6c.1251C>G (p.Phe417Leu)
c.88C>G
c.1248C>G (p.Phe416Leu)
c.1224C>G (p.Phe408Leu)
c.987C>G (p.Phe329Leu)
c.630C>G (p.Phe210Leu)
c.1116C>G (p.Phe372Leu)
ClinVar dbSNP
12g.11886024C>TCA478767245ETV6c.1251C>T (p.Phe417=)
c.88C>T
c.1248C>T (p.Phe416=)
c.1224C>T (p.Phe408=)
c.987C>T (p.Phe329=)
c.630C>T (p.Phe210=)
c.1116C>T (p.Phe372=)
12g.11886025A=CA2016648612ETV6c.1252A= (p.Arg418=)
c.89A=
c.1249A= (p.Arg417=)
c.1225A= (p.Arg409=)
c.988A= (p.Arg330=)
c.631A= (p.Arg211=)
c.1117A= (p.Arg373=)
12g.11886025A>CCA478767246ETV6c.1252A>C (p.Arg418=)
c.89A>C
c.1249A>C (p.Arg417=)
c.1225A>C (p.Arg409=)
c.988A>C (p.Arg330=)
c.631A>C (p.Arg211=)
c.1117A>C (p.Arg373=)
12g.11886025A>GCA199659ETV6c.1252A>G (p.Arg418Gly)
c.89A>G
c.1249A>G (p.Arg417Gly)
c.1225A>G (p.Arg409Gly)
c.988A>G (p.Arg330Gly)
c.631A>G (p.Arg211Gly)
c.1117A>G (p.Arg373Gly)
ClinVar dbSNP COSMIC
12g.11886025A>TCA384045033ETV6c.1252A>T (p.Arg418Trp)
c.89A>T
c.1249A>T (p.Arg417Trp)
c.1225A>T (p.Arg409Trp)
c.988A>T (p.Arg330Trp)
c.631A>T (p.Arg211Trp)
c.1117A>T (p.Arg373Trp)
12g.11886025_11886029delCA645595232ETV6c.1252_1253+3del
c.89_90+3del
c.1249_1250+3del
c.1225_1226+3del
c.988_989+3del
c.631_632+3del
c.1117_1118+3del
COSMIC
12g.11886026G>ACA384045034ETV6c.1253G>A (p.Arg418Lys)
c.90G>A
c.1250G>A (p.Arg417Lys)
c.1226G>A (p.Arg409Lys)
c.989G>A (p.Arg330Lys)
c.632G>A (p.Arg211Lys)
c.1118G>A (p.Arg373Lys)
12g.11886026G>CCA384045035ETV6c.1253G>C (p.Arg418Thr)
c.90G>C
c.1250G>C (p.Arg417Thr)
c.1226G>C (p.Arg409Thr)
c.989G>C (p.Arg330Thr)
c.632G>C (p.Arg211Thr)
c.1118G>C (p.Arg373Thr)
12g.11886026G>TCA384045036ETV6c.1253G>T (p.Arg418Met)
c.90G>T
c.1250G>T (p.Arg417Met)
c.1226G>T (p.Arg409Met)
c.989G>T (p.Arg330Met)
c.632G>T (p.Arg211Met)
c.1118G>T (p.Arg373Met)
ClinVar gnomAD v4 COSMIC
12g.11886027G>ACA384045037ETV6c.1253+1G>A (n.1253+1G>A)
c.90+1G>A
c.1250+1G>A (n.1250+1G>A)
c.1226+1G>A (n.1226+1G>A)
c.989+1G>A (n.989+1G>A)
c.632+1G>A (n.632+1G>A)
c.1118+1G>A (n.1118+1G>A)
12g.11886027G>CCA384045038ETV6c.1253+1G>C (n.1253+1G>C)
c.90+1G>C
c.1250+1G>C (n.1250+1G>C)
c.1226+1G>C (n.1226+1G>C)
c.989+1G>C (n.989+1G>C)
c.632+1G>C (n.632+1G>C)
c.1118+1G>C (n.1118+1G>C)
12g.11886027G=CA2016648613ETV6c.1253+1G= (n.1253+1G=)
c.90+1G=
c.1250+1G= (n.1250+1G=)
c.1226+1G= (n.1226+1G=)
c.989+1G= (n.989+1G=)
c.632+1G= (n.632+1G=)
c.1118+1G= (n.1118+1G=)
12g.11886027G>TCA384045039ETV6c.1253+1G>T (n.1253+1G>T)
c.90+1G>T
c.1250+1G>T (n.1250+1G>T)
c.1226+1G>T (n.1226+1G>T)
c.989+1G>T (n.989+1G>T)
c.632+1G>T (n.632+1G>T)
c.1118+1G>T (n.1118+1G>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.11886028T>ACA384045041ETV6c.1253+2T>A (n.1253+2T>A)
c.90+2T>A
c.1250+2T>A (n.1250+2T>A)
c.1226+2T>A (n.1226+2T>A)
c.989+2T>A (n.989+2T>A)
c.632+2T>A (n.632+2T>A)
c.1118+2T>A (n.1118+2T>A)
12g.11886028T>CCA384045042ETV6c.1253+2T>C (n.1253+2T>C)
c.90+2T>C
c.1250+2T>C (n.1250+2T>C)
c.1226+2T>C (n.1226+2T>C)
c.989+2T>C (n.989+2T>C)
c.632+2T>C (n.632+2T>C)
c.1118+2T>C (n.1118+2T>C)
ClinVar gnomAD v4
12g.11886028T>GCA384045040ETV6c.1253+2T>G (n.1253+2T>G)
c.90+2T>G
c.1250+2T>G (n.1250+2T>G)
c.1226+2T>G (n.1226+2T>G)
c.989+2T>G (n.989+2T>G)
c.632+2T>G (n.632+2T>G)
c.1118+2T>G (n.1118+2T>G)
gnomAD v4 COSMIC
12g.11886029A=CA2016648614ETV6c.1253+3A= (n.1253+3A=)
c.90+3A=
c.1250+3A= (n.1250+3A=)
c.1226+3A= (n.1226+3A=)
c.989+3A= (n.989+3A=)
c.632+3A= (n.632+3A=)
c.1118+3A= (n.1118+3A=)
12g.11886029A>GCA684251644ETV6c.1253+3A>G (n.1253+3A>G)
c.90+3A>G
c.1250+3A>G (n.1250+3A>G)
c.1226+3A>G (n.1226+3A>G)
c.989+3A>G (n.989+3A>G)
c.632+3A>G (n.632+3A>G)
c.1118+3A>G (n.1118+3A>G)
dbSNP gnomAD v3 gnomAD v4
12g.11886030G>ACA684251647ETV6c.1253+4G>A (n.1253+4G>A)
c.90+4G>A
c.1250+4G>A (n.1250+4G>A)
c.1226+4G>A (n.1226+4G>A)
c.989+4G>A (n.989+4G>A)
c.632+4G>A (n.632+4G>A)
c.1118+4G>A (n.1118+4G>A)
dbSNP gnomAD v3 gnomAD v4
12g.11886030G=CA2016648615ETV6c.1253+4G= (n.1253+4G=)
c.90+4G=
c.1250+4G= (n.1250+4G=)
c.1226+4G= (n.1226+4G=)
c.989+4G= (n.989+4G=)
c.632+4G= (n.632+4G=)
c.1118+4G= (n.1118+4G=)
12g.11886031C>ACA2575169112ETV6c.1253+5C>A (n.1253+5C>A)
c.90+5C>A
c.1250+5C>A (n.1250+5C>A)
c.1226+5C>A (n.1226+5C>A)
c.989+5C>A (n.989+5C>A)
c.632+5C>A (n.632+5C>A)
c.1118+5C>A (n.1118+5C>A)
gnomAD v4
12g.11886033C>ACA6454432ETV6c.1253+7C>A (n.1253+7C>A)
c.90+7C>A
c.1250+7C>A (n.1250+7C>A)
c.1226+7C>A (n.1226+7C>A)
c.989+7C>A (n.989+7C>A)
c.632+7C>A (n.632+7C>A)
c.1118+7C>A (n.1118+7C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11886033C=CA2016648616ETV6c.1253+7C= (n.1253+7C=)
c.90+7C=
c.1250+7C= (n.1250+7C=)
c.1226+7C= (n.1226+7C=)
c.989+7C= (n.989+7C=)
c.632+7C= (n.632+7C=)
c.1118+7C= (n.1118+7C=)
12g.11886036_11886039delCA2617675077ETV6c.1253+10_1253+13del (n.1253+10_1253+13del)
c.90+10_90+13del
c.1250+10_1250+13del (n.1250+10_1250+13del)
c.1226+10_1226+13del (n.1226+10_1226+13del)
c.989+10_989+13del (n.989+10_989+13del)
c.632+10_632+13del (n.632+10_632+13del)
c.1118+10_1118+13del (n.1118+10_1118+13del)
gnomAD v4
12g.11886034T>GCA6454433ETV6c.1253+8T>G (n.1253+8T>G)
c.90+8T>G
c.1250+8T>G (n.1250+8T>G)
c.1226+8T>G (n.1226+8T>G)
c.989+8T>G (n.989+8T>G)
c.632+8T>G (n.632+8T>G)
c.1118+8T>G (n.1118+8T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.11886034T=CA2016648617ETV6c.1253+8T= (n.1253+8T=)
c.90+8T=
c.1250+8T= (n.1250+8T=)
c.1226+8T= (n.1226+8T=)
c.989+8T= (n.989+8T=)
c.632+8T= (n.632+8T=)
c.1118+8T= (n.1118+8T=)
12g.11886035T=CA2016648618ETV6c.1253+9T= (n.1253+9T=)
c.90+9T=
c.1250+9T= (n.1250+9T=)
c.1226+9T= (n.1226+9T=)
c.989+9T= (n.989+9T=)
c.632+9T= (n.632+9T=)
c.1118+9T= (n.1118+9T=)
12g.11886037dupCA919024595ETV6c.1253+11dup (n.1253+11dup)
c.90+11dup
c.1250+11dup (n.1250+11dup)
c.1226+11dup (n.1226+11dup)
c.989+11dup (n.989+11dup)
c.632+11dup (n.632+11dup)
c.1118+11dup (n.1118+11dup)
dbSNP
12g.11886037delCA2617675078ETV6c.1253+11del (n.1253+11del)
c.90+11del
c.1250+11del (n.1250+11del)
c.1226+11del (n.1226+11del)
c.989+11del (n.989+11del)
c.632+11del (n.632+11del)
c.1118+11del (n.1118+11del)
gnomAD v4
12g.11886038T>CCA2617675080ETV6c.1253+12T>C (n.1253+12T>C)
c.90+12T>C
c.1250+12T>C (n.1250+12T>C)
c.1226+12T>C (n.1226+12T>C)
c.989+12T>C (n.989+12T>C)
c.632+12T>C (n.632+12T>C)
c.1118+12T>C (n.1118+12T>C)
gnomAD v4
12g.11886042delCA2617675079ETV6c.1253+16del (n.1253+16del)
c.90+16del
c.1250+16del (n.1250+16del)
c.1226+16del (n.1226+16del)
c.989+16del (n.989+16del)
c.632+16del (n.632+16del)
c.1118+16del (n.1118+16del)
gnomAD v4
12g.11886042T>ACA2725554088ETV6c.1253+16T>A (n.1253+16T>A)
c.90+16T>A
c.1250+16T>A (n.1250+16T>A)
c.1226+16T>A (n.1226+16T>A)
c.989+16T>A (n.989+16T>A)
c.632+16T>A (n.632+16T>A)
c.1118+16T>A (n.1118+16T>A)
dbSNP
12g.11886043C>ACA2617675081ETV6c.1253+17C>A (n.1253+17C>A)
c.90+17C>A
c.1250+17C>A (n.1250+17C>A)
c.1226+17C>A (n.1226+17C>A)
c.989+17C>A (n.989+17C>A)
c.632+17C>A (n.632+17C>A)
c.1118+17C>A (n.1118+17C>A)
gnomAD v4
12g.11886044T>GCA2617675082ETV6c.1253+18T>G (n.1253+18T>G)
c.90+18T>G
c.1250+18T>G (n.1250+18T>G)
c.1226+18T>G (n.1226+18T>G)
c.989+18T>G (n.989+18T>G)
c.632+18T>G (n.632+18T>G)
c.1118+18T>G (n.1118+18T>G)
gnomAD v4
12g.11886045C>ACA2617675083ETV6c.1253+19C>A (n.1253+19C>A)
c.90+19C>A
c.1250+19C>A (n.1250+19C>A)
c.1226+19C>A (n.1226+19C>A)
c.989+19C>A (n.989+19C>A)
c.632+19C>A (n.632+19C>A)
c.1118+19C>A (n.1118+19C>A)
gnomAD v4
12g.11886045C>GCA2536378265ETV6c.1253+19C>G (n.1253+19C>G)
c.90+19C>G
c.1250+19C>G (n.1250+19C>G)
c.1226+19C>G (n.1226+19C>G)
c.989+19C>G (n.989+19C>G)
c.632+19C>G (n.632+19C>G)
c.1118+19C>G (n.1118+19C>G)
12g.11886046C>ACA2617675084ETV6c.1253+20C>A (n.1253+20C>A)
c.90+20C>A
c.1250+20C>A (n.1250+20C>A)
c.1226+20C>A (n.1226+20C>A)
c.989+20C>A (n.989+20C>A)
c.632+20C>A (n.632+20C>A)
c.1118+20C>A (n.1118+20C>A)
gnomAD v4
12g.11886049delCA2794567733ETV6c.1253+23del (n.1253+23del)
c.90+23del
c.1250+23del (n.1250+23del)
c.1226+23del (n.1226+23del)
c.989+23del (n.989+23del)
c.632+23del (n.632+23del)
c.1118+23del (n.1118+23del)
12g.11886048T>CCA2617675085ETV6c.1253+22T>C (n.1253+22T>C)
c.90+22T>C
c.1250+22T>C (n.1250+22T>C)
c.1226+22T>C (n.1226+22T>C)
c.989+22T>C (n.989+22T>C)
c.632+22T>C (n.632+22T>C)
c.1118+22T>C (n.1118+22T>C)
gnomAD v4
12g.11886049T>GCA2016648620ETV6c.1253+23T>G (n.1253+23T>G)
c.90+23T>G
c.1250+23T>G (n.1250+23T>G)
c.1226+23T>G (n.1226+23T>G)
c.989+23T>G (n.989+23T>G)
c.632+23T>G (n.632+23T>G)
c.1118+23T>G (n.1118+23T>G)
dbSNP
12g.11886049T=CA2016648619ETV6c.1253+23T= (n.1253+23T=)
c.90+23T=
c.1250+23T= (n.1250+23T=)
c.1226+23T= (n.1226+23T=)
c.989+23T= (n.989+23T=)
c.632+23T= (n.632+23T=)
c.1118+23T= (n.1118+23T=)
12g.11886050C>ACA6454434ETV6c.1253+24C>A (n.1253+24C>A)
c.90+24C>A
c.1250+24C>A (n.1250+24C>A)
c.1226+24C>A (n.1226+24C>A)
c.989+24C>A (n.989+24C>A)
c.632+24C>A (n.632+24C>A)
c.1118+24C>A (n.1118+24C>A)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.11886050C=CA2016648621ETV6c.1253+24C= (n.1253+24C=)
c.90+24C=
c.1250+24C= (n.1250+24C=)
c.1226+24C= (n.1226+24C=)
c.989+24C= (n.989+24C=)
c.632+24C= (n.632+24C=)
c.1118+24C= (n.1118+24C=)
12g.11886051C>ACA2617675086ETV6c.1253+25C>A (n.1253+25C>A)
c.90+25C>A
c.1250+25C>A (n.1250+25C>A)
c.1226+25C>A (n.1226+25C>A)
c.989+25C>A (n.989+25C>A)
c.632+25C>A (n.632+25C>A)
c.1118+25C>A (n.1118+25C>A)
gnomAD v4
12g.11886051C>TCA2575169113ETV6c.1253+25C>T (n.1253+25C>T)
c.90+25C>T
c.1250+25C>T (n.1250+25C>T)
c.1226+25C>T (n.1226+25C>T)
c.989+25C>T (n.989+25C>T)
c.632+25C>T (n.632+25C>T)
c.1118+25C>T (n.1118+25C>T)
12g.11886053T>CCA2617675087ETV6c.1253+27T>C (n.1253+27T>C)
c.90+27T>C
c.1250+27T>C (n.1250+27T>C)
c.1226+27T>C (n.1226+27T>C)
c.989+27T>C (n.989+27T>C)
c.632+27T>C (n.632+27T>C)
c.1118+27T>C (n.1118+27T>C)
gnomAD v4
12g.11886058delCA2794567735ETV6c.1253+32del (n.1253+32del)
c.90+32del
c.1250+32del (n.1250+32del)
c.1226+32del (n.1226+32del)
c.989+32del (n.989+32del)
c.632+32del (n.632+32del)
c.1118+32del (n.1118+32del)
12g.11886057T>CCA2575169114ETV6c.1253+31T>C (n.1253+31T>C)
c.90+31T>C
c.1250+31T>C (n.1250+31T>C)
c.1226+31T>C (n.1226+31T>C)
c.989+31T>C (n.989+31T>C)
c.632+31T>C (n.632+31T>C)
c.1118+31T>C (n.1118+31T>C)
12g.11886058T>GCA2507240830ETV6c.1253+32T>G (n.1253+32T>G)
c.90+32T>G
c.1250+32T>G (n.1250+32T>G)
c.1226+32T>G (n.1226+32T>G)
c.989+32T>G (n.989+32T>G)
c.632+32T>G (n.632+32T>G)
c.1118+32T>G (n.1118+32T>G)
12g.11886058_11886059insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGACA2741232103ETV6c.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA (n.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA)
c.90+32_90+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA
c.1250+32_1250+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA (n.1250+32_1250+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA)
c.1226+32_1226+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA (n.1226+32_1226+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA)
c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA (n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA)
c.632+32_632+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA (n.632+32_632+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA)
c.1118+32_1118+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA (n.1118+32_1118+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA)
12g.11886059_11886061delCA2794567737ETV6c.1253+33_1253+35del (n.1253+33_1253+35del)
c.90+33_90+35del
c.1250+33_1250+35del (n.1250+33_1250+35del)
c.1226+33_1226+35del (n.1226+33_1226+35del)
c.989+33_989+35del (n.989+33_989+35del)
c.632+33_632+35del (n.632+33_632+35del)
c.1118+33_1118+35del (n.1118+33_1118+35del)

Number of alleles fetched