Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.11885872_11885946delCA2695216093ETV6c.1153-54_1173del
c.1150-54_1170del
c.1126-54_1146del
c.889-54_909del
c.532-54_552del
c.1018-54_1038del
12g.11885925_11885938delCA913184887ETV6c.1153-1_1165del
c.1150-1_1162del
c.1126-1_1138del
c.889-1_901del
c.532-1_544del
c.1018-1_1030del
ClinVar dbSNP
12g.11885917A>TCA2725554066ETV6c.1153-9A>T (n.1153-9A>T)
c.1150-9A>T (n.1150-9A>T)
c.1126-9A>T (n.1126-9A>T)
c.889-9A>T (n.889-9A>T)
c.532-9A>T (n.532-9A>T)
c.1018-9A>T (n.1018-9A>T)
dbSNP
12g.11885918A>GCA2617675074ETV6c.1153-8A>G (n.1153-8A>G)
c.1150-8A>G (n.1150-8A>G)
c.1126-8A>G (n.1126-8A>G)
c.889-8A>G (n.889-8A>G)
c.532-8A>G (n.532-8A>G)
c.1018-8A>G (n.1018-8A>G)
gnomAD v4
12g.11885919C>ACA2575169111ETV6c.1153-7C>A (n.1153-7C>A)
c.1150-7C>A (n.1150-7C>A)
c.1126-7C>A (n.1126-7C>A)
c.889-7C>A (n.889-7C>A)
c.532-7C>A (n.532-7C>A)
c.1018-7C>A (n.1018-7C>A)
gnomAD v4
12g.11885919C=CA2016648587ETV6c.1153-7C= (n.1153-7C=)
c.1150-7C= (n.1150-7C=)
c.1126-7C= (n.1126-7C=)
c.889-7C= (n.889-7C=)
c.532-7C= (n.532-7C=)
c.1018-7C= (n.1018-7C=)
12g.11885919C>TCA6454426ETV6c.1153-7C>T (n.1153-7C>T)
c.1150-7C>T (n.1150-7C>T)
c.1126-7C>T (n.1126-7C>T)
c.889-7C>T (n.889-7C>T)
c.532-7C>T (n.532-7C>T)
c.1018-7C>T (n.1018-7C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885919_11885921delinsCAACA2016648588ETV6c.1153-7_1153-5delinsCAA (n.1153-7_1153-5delinsCAA)
c.1150-7_1150-5delinsCAA (n.1150-7_1150-5delinsCAA)
c.1126-7_1126-5delinsCAA (n.1126-7_1126-5delinsCAA)
c.889-7_889-5delinsCAA (n.889-7_889-5delinsCAA)
c.532-7_532-5delinsCAA (n.532-7_532-5delinsCAA)
c.1018-7_1018-5delinsCAA (n.1018-7_1018-5delinsCAA)
12g.11885921_11885922delCA2016648589ETV6c.1153-5_1153-4del (n.1153-5_1153-4del)
c.1150-5_1150-4del (n.1150-5_1150-4del)
c.1126-5_1126-4del (n.1126-5_1126-4del)
c.889-5_889-4del (n.889-5_889-4del)
c.532-5_532-4del (n.532-5_532-4del)
c.1018-5_1018-4del (n.1018-5_1018-4del)
dbSNP
12g.11885930_11885934delCA199643ETV6c.1157_1161del
c.1154_1158del
c.1130_1134del
c.893_897del
c.536_540del
c.1022_1026del
ClinVar gnomAD v4
12g.11885923C>ACA232637494ETV6c.1153-3C>A (n.1153-3C>A)
c.1150-3C>A (n.1150-3C>A)
c.1126-3C>A (n.1126-3C>A)
c.889-3C>A (n.889-3C>A)
c.532-3C>A (n.532-3C>A)
c.1018-3C>A (n.1018-3C>A)
dbSNP gnomAD v4
12g.11885923C=CA2016648590ETV6c.1153-3C= (n.1153-3C=)
c.1150-3C= (n.1150-3C=)
c.1126-3C= (n.1126-3C=)
c.889-3C= (n.889-3C=)
c.532-3C= (n.532-3C=)
c.1018-3C= (n.1018-3C=)
12g.11885923C>GCA603418309ETV6c.1153-3C>G (n.1153-3C>G)
c.1150-3C>G (n.1150-3C>G)
c.1126-3C>G (n.1126-3C>G)
c.889-3C>G (n.889-3C>G)
c.532-3C>G (n.532-3C>G)
c.1018-3C>G (n.1018-3C>G)
dbSNP gnomAD v2 gnomAD v4
12g.11885923C>TCA2725256346ETV6c.1153-3C>T (n.1153-3C>T)
c.1150-3C>T (n.1150-3C>T)
c.1126-3C>T (n.1126-3C>T)
c.889-3C>T (n.889-3C>T)
c.532-3C>T (n.532-3C>T)
c.1018-3C>T (n.1018-3C>T)
dbSNP
12g.11885924A>CCA384044790ETV6c.1153-2A>C (n.1153-2A>C)
c.1150-2A>C (n.1150-2A>C)
c.1126-2A>C (n.1126-2A>C)
c.889-2A>C (n.889-2A>C)
c.532-2A>C (n.532-2A>C)
c.1018-2A>C (n.1018-2A>C)
12g.11885924A>GCA384044791ETV6c.1153-2A>G (n.1153-2A>G)
c.1150-2A>G (n.1150-2A>G)
c.1126-2A>G (n.1126-2A>G)
c.889-2A>G (n.889-2A>G)
c.532-2A>G (n.532-2A>G)
c.1018-2A>G (n.1018-2A>G)
12g.11885924A>TCA384044792ETV6c.1153-2A>T (n.1153-2A>T)
c.1150-2A>T (n.1150-2A>T)
c.1126-2A>T (n.1126-2A>T)
c.889-2A>T (n.889-2A>T)
c.532-2A>T (n.532-2A>T)
c.1018-2A>T (n.1018-2A>T)
12g.11885925_11885926delCA2580085156ETV6c.1153-1_1153del
c.1150-1_1150del
c.1126-1_1126del
c.889-1_889del
c.532-1_532del
c.1018-1_1018del
ClinVar
12g.11885924_11885938delCA2573053612ETV6c.1153-2_1165del
c.1150-2_1162del
c.1126-2_1138del
c.889-2_901del
c.532-2_544del
c.1018-2_1030del
ClinVar dbSNP
12g.11885925G>ACA384044793ETV6c.1153-1G>A (n.1153-1G>A)
c.1150-1G>A (n.1150-1G>A)
c.1126-1G>A (n.1126-1G>A)
c.889-1G>A (n.889-1G>A)
c.532-1G>A (n.532-1G>A)
c.1018-1G>A (n.1018-1G>A)
12g.11885925G>CCA384044794ETV6c.1153-1G>C (n.1153-1G>C)
c.1150-1G>C (n.1150-1G>C)
c.1126-1G>C (n.1126-1G>C)
c.889-1G>C (n.889-1G>C)
c.532-1G>C (n.532-1G>C)
c.1018-1G>C (n.1018-1G>C)
dbSNP gnomAD v3 gnomAD v4
12g.11885925G=CA2016648591ETV6c.1153-1G= (n.1153-1G=)
c.1150-1G= (n.1150-1G=)
c.1126-1G= (n.1126-1G=)
c.889-1G= (n.889-1G=)
c.532-1G= (n.532-1G=)
c.1018-1G= (n.1018-1G=)
12g.11885925G>TCA384044795ETV6c.1153-1G>T (n.1153-1G>T)
c.1150-1G>T (n.1150-1G>T)
c.1126-1G>T (n.1126-1G>T)
c.889-1G>T (n.889-1G>T)
c.532-1G>T (n.532-1G>T)
c.1018-1G>T (n.1018-1G>T)
COSMIC
12g.11885926A>CCA384044796ETV6c.1153A>C (p.Asn385His)
c.1150A>C (p.Asn384His)
c.1126A>C (p.Asn376His)
c.889A>C (p.Asn297His)
c.532A>C (p.Asn178His)
c.1018A>C (p.Asn340His)
12g.11885926A>GCA384044797ETV6c.1153A>G (p.Asn385Asp)
c.1150A>G (p.Asn384Asp)
c.1126A>G (p.Asn376Asp)
c.889A>G (p.Asn297Asp)
c.532A>G (p.Asn178Asp)
c.1018A>G (p.Asn340Asp)
12g.11885926A>TCA384044798ETV6c.1153A>T (p.Asn385Tyr)
c.1150A>T (p.Asn384Tyr)
c.1126A>T (p.Asn376Tyr)
c.889A>T (p.Asn297Tyr)
c.532A>T (p.Asn178Tyr)
c.1018A>T (p.Asn340Tyr)
ClinVar dbSNP
12g.11885927A>CCA384044801ETV6c.1154A>C (p.Asn385Thr)
c.1151A>C (p.Asn384Thr)
c.1127A>C (p.Asn376Thr)
c.890A>C (p.Asn297Thr)
c.533A>C (p.Asn178Thr)
c.1019A>C (p.Asn340Thr)
12g.11885927A>GCA384044799ETV6c.1154A>G (p.Asn385Ser)
c.1151A>G (p.Asn384Ser)
c.1127A>G (p.Asn376Ser)
c.890A>G (p.Asn297Ser)
c.533A>G (p.Asn178Ser)
c.1019A>G (p.Asn340Ser)
COSMIC
12g.11885927A>TCA384044800ETV6c.1154A>T (p.Asn385Ile)
c.1151A>T (p.Asn384Ile)
c.1127A>T (p.Asn376Ile)
c.890A>T (p.Asn297Ile)
c.533A>T (p.Asn178Ile)
c.1019A>T (p.Asn340Ile)
12g.11885929_11885942delCA2617675075ETV6c.1156_1169del (p.Arg386LeufsTer2)
c.1153_1166del (p.Arg385LeufsTer2)
c.1129_1142del (p.Arg377LeufsTer2)
c.892_905del (p.Arg298LeufsTer2)
c.535_548del (p.Arg179LeufsTer2)
c.1021_1034del (p.Arg341LeufsTer2)
gnomAD v4
12g.11885928C>ACA384044802ETV6c.1155C>A (p.Asn385Lys)
c.1152C>A (p.Asn384Lys)
c.1128C>A (p.Asn376Lys)
c.891C>A (p.Asn297Lys)
c.534C>A (p.Asn178Lys)
c.1020C>A (p.Asn340Lys)
12g.11885928C>GCA384044803ETV6c.1155C>G (p.Asn385Lys)
c.1152C>G (p.Asn384Lys)
c.1128C>G (p.Asn376Lys)
c.891C>G (p.Asn297Lys)
c.534C>G (p.Asn178Lys)
c.1020C>G (p.Asn340Lys)
12g.11885928C>TCA478767192ETV6c.1155C>T (p.Asn385=)
c.1152C>T (p.Asn384=)
c.1128C>T (p.Asn376=)
c.891C>T (p.Asn297=)
c.534C>T (p.Asn178=)
c.1020C>T (p.Asn340=)
12g.11885929A>CCA478767193ETV6c.1156A>C (p.Arg386=)
c.1153A>C (p.Arg385=)
c.1129A>C (p.Arg377=)
c.892A>C (p.Arg298=)
c.535A>C (p.Arg179=)
c.1021A>C (p.Arg341=)
12g.11885929A>GCA384044804ETV6c.1156A>G (p.Arg386Gly)
c.1153A>G (p.Arg385Gly)
c.1129A>G (p.Arg377Gly)
c.892A>G (p.Arg298Gly)
c.535A>G (p.Arg179Gly)
c.1021A>G (p.Arg341Gly)
12g.11885929A>TCA384044805ETV6c.1156A>T (p.Arg386Ter)
c.1153A>T (p.Arg385Ter)
c.1129A>T (p.Arg377Ter)
c.892A>T (p.Arg298Ter)
c.535A>T (p.Arg179Ter)
c.1021A>T (p.Arg341Ter)
12g.11885930G>ACA384044806ETV6c.1157G>A (p.Arg386Lys)
c.1154G>A (p.Arg385Lys)
c.1130G>A (p.Arg377Lys)
c.893G>A (p.Arg298Lys)
c.536G>A (p.Arg179Lys)
c.1022G>A (p.Arg341Lys)
dbSNP
12g.11885930G>CCA384044807ETV6c.1157G>C (p.Arg386Thr)
c.1154G>C (p.Arg385Thr)
c.1130G>C (p.Arg377Thr)
c.893G>C (p.Arg298Thr)
c.536G>C (p.Arg179Thr)
c.1022G>C (p.Arg341Thr)
12g.11885930G>TCA384044808ETV6c.1157G>T (p.Arg386Ile)
c.1154G>T (p.Arg385Ile)
c.1130G>T (p.Arg377Ile)
c.893G>T (p.Arg298Ile)
c.536G>T (p.Arg179Ile)
c.1022G>T (p.Arg341Ile)
12g.11885931A>CCA384044809ETV6c.1158A>C (p.Arg386Ser)
c.1155A>C (p.Arg385Ser)
c.1131A>C (p.Arg377Ser)
c.894A>C (p.Arg298Ser)
c.537A>C (p.Arg179Ser)
c.1023A>C (p.Arg341Ser)
12g.11885931A>GCA478767194ETV6c.1158A>G (p.Arg386=)
c.1155A>G (p.Arg385=)
c.1131A>G (p.Arg377=)
c.894A>G (p.Arg298=)
c.537A>G (p.Arg179=)
c.1023A>G (p.Arg341=)
12g.11885931A>TCA384044810ETV6c.1158A>T (p.Arg386Ser)
c.1155A>T (p.Arg385Ser)
c.1131A>T (p.Arg377Ser)
c.894A>T (p.Arg298Ser)
c.537A>T (p.Arg179Ser)
c.1023A>T (p.Arg341Ser)
12g.11885932A>CCA384044811ETV6c.1159A>C (p.Thr387Pro)
c.1156A>C (p.Thr386Pro)
c.1132A>C (p.Thr378Pro)
c.895A>C (p.Thr299Pro)
c.538A>C (p.Thr180Pro)
c.1024A>C (p.Thr342Pro)
12g.11885932A>GCA384044812ETV6c.1159A>G (p.Thr387Ala)
c.1156A>G (p.Thr386Ala)
c.1132A>G (p.Thr378Ala)
c.895A>G (p.Thr299Ala)
c.538A>G (p.Thr180Ala)
c.1024A>G (p.Thr342Ala)
dbSNP gnomAD v3
12g.11885932A>TCA384044813ETV6c.1159A>T (p.Thr387Ser)
c.1156A>T (p.Thr386Ser)
c.1132A>T (p.Thr378Ser)
c.895A>T (p.Thr299Ser)
c.538A>T (p.Thr180Ser)
c.1024A>T (p.Thr342Ser)
12g.11885933C>ACA384044815ETV6c.1160C>A (p.Thr387Lys)
c.1157C>A (p.Thr386Lys)
c.1133C>A (p.Thr378Lys)
c.896C>A (p.Thr299Lys)
c.539C>A (p.Thr180Lys)
c.1025C>A (p.Thr342Lys)
12g.11885933C=CA2016648592ETV6c.1160C= (p.Thr387=)
c.1157C= (p.Thr386=)
c.1133C= (p.Thr378=)
c.896C= (p.Thr299=)
c.539C= (p.Thr180=)
c.1025C= (p.Thr342=)
12g.11885933C>GCA384044816ETV6c.1160C>G (p.Thr387Arg)
c.1157C>G (p.Thr386Arg)
c.1133C>G (p.Thr378Arg)
c.896C>G (p.Thr299Arg)
c.539C>G (p.Thr180Arg)
c.1025C>G (p.Thr342Arg)
12g.11885933C>TCA384044814ETV6c.1160C>T (p.Thr387Ile)
c.1157C>T (p.Thr386Ile)
c.1133C>T (p.Thr378Ile)
c.896C>T (p.Thr299Ile)
c.539C>T (p.Thr180Ile)
c.1025C>T (p.Thr342Ile)
dbSNP gnomAD v2 gnomAD v4
12g.11885934A>CCA478767195ETV6c.1161A>C (p.Thr387=)
c.1158A>C (p.Thr386=)
c.1134A>C (p.Thr378=)
c.897A>C (p.Thr299=)
c.540A>C (p.Thr180=)
c.1026A>C (p.Thr342=)
12g.11885934A>GCA478767196ETV6c.1161A>G (p.Thr387=)
c.1158A>G (p.Thr386=)
c.1134A>G (p.Thr378=)
c.897A>G (p.Thr299=)
c.540A>G (p.Thr180=)
c.1026A>G (p.Thr342=)
12g.11885934A>TCA478767197ETV6c.1161A>T (p.Thr387=)
c.1158A>T (p.Thr386=)
c.1134A>T (p.Thr378=)
c.897A>T (p.Thr299=)
c.540A>T (p.Thr180=)
c.1026A>T (p.Thr342=)
12g.11885935A>CCA384044817ETV6c.1162A>C (p.Asn388His)
c.1159A>C (p.Asn387His)
c.1135A>C (p.Asn379His)
c.898A>C (p.Asn300His)
c.541A>C (p.Asn181His)
c.1027A>C (p.Asn343His)
12g.11885935A>GCA384044818ETV6c.1162A>G (p.Asn388Asp)
c.1159A>G (p.Asn387Asp)
c.1135A>G (p.Asn379Asp)
c.898A>G (p.Asn300Asp)
c.541A>G (p.Asn181Asp)
c.1027A>G (p.Asn343Asp)
12g.11885935A>TCA384044819ETV6c.1162A>T (p.Asn388Tyr)
c.1159A>T (p.Asn387Tyr)
c.1135A>T (p.Asn379Tyr)
c.898A>T (p.Asn300Tyr)
c.541A>T (p.Asn181Tyr)
c.1027A>T (p.Asn343Tyr)
12g.11885936A>CCA384044820ETV6c.1163A>C (p.Asn388Thr)
c.1160A>C (p.Asn387Thr)
c.1136A>C (p.Asn379Thr)
c.899A>C (p.Asn300Thr)
c.542A>C (p.Asn181Thr)
c.1028A>C (p.Asn343Thr)
12g.11885936A>GCA384044821ETV6c.1163A>G (p.Asn388Ser)
c.1160A>G (p.Asn387Ser)
c.1136A>G (p.Asn379Ser)
c.899A>G (p.Asn300Ser)
c.542A>G (p.Asn181Ser)
c.1028A>G (p.Asn343Ser)
12g.11885936A>TCA384044822ETV6c.1163A>T (p.Asn388Ile)
c.1160A>T (p.Asn387Ile)
c.1136A>T (p.Asn379Ile)
c.899A>T (p.Asn300Ile)
c.542A>T (p.Asn181Ile)
c.1028A>T (p.Asn343Ile)
12g.11885937C>ACA384044824ETV6c.1164C>A (p.Asn388Lys)
c.1C>A
c.1161C>A (p.Asn387Lys)
c.1137C>A (p.Asn379Lys)
c.900C>A (p.Asn300Lys)
c.543C>A (p.Asn181Lys)
c.1029C>A (p.Asn343Lys)
12g.11885937C>GCA384044823ETV6c.1164C>G (p.Asn388Lys)
c.1C>G
c.1161C>G (p.Asn387Lys)
c.1137C>G (p.Asn379Lys)
c.900C>G (p.Asn300Lys)
c.543C>G (p.Asn181Lys)
c.1029C>G (p.Asn343Lys)
12g.11885937C>TCA478767198ETV6c.1164C>T (p.Asn388=)
c.1C>T
c.1161C>T (p.Asn387=)
c.1137C>T (p.Asn379=)
c.900C>T (p.Asn300=)
c.543C>T (p.Asn181=)
c.1029C>T (p.Asn343=)
gnomAD v4
12g.11885938A>CCA384044825ETV6c.1165A>C (p.Met389Leu)
c.2A>C
c.1162A>C (p.Met388Leu)
c.1138A>C (p.Met380Leu)
c.901A>C (p.Met301Leu)
c.544A>C (p.Met182Leu)
c.1030A>C (p.Met344Leu)
12g.11885938A>GCA384044826ETV6c.1165A>G (p.Met389Val)
c.2A>G
c.1162A>G (p.Met388Val)
c.1138A>G (p.Met380Val)
c.901A>G (p.Met301Val)
c.544A>G (p.Met182Val)
c.1030A>G (p.Met344Val)
12g.11885938A>TCA384044827ETV6c.1165A>T (p.Met389Leu)
c.2A>T
c.1162A>T (p.Met388Leu)
c.1138A>T (p.Met380Leu)
c.901A>T (p.Met301Leu)
c.544A>T (p.Met182Leu)
c.1030A>T (p.Met344Leu)
12g.11885939T>ACA384044828ETV6c.1166T>A (p.Met389Lys)
c.3T>A
c.1163T>A (p.Met388Lys)
c.1139T>A (p.Met380Lys)
c.902T>A (p.Met301Lys)
c.545T>A (p.Met182Lys)
c.1031T>A (p.Met344Lys)
12g.11885939T>CCA384044829ETV6c.1166T>C (p.Met389Thr)
c.3T>C
c.1163T>C (p.Met388Thr)
c.1139T>C (p.Met380Thr)
c.902T>C (p.Met301Thr)
c.545T>C (p.Met182Thr)
c.1031T>C (p.Met344Thr)
12g.11885939T>GCA384044830ETV6c.1166T>G (p.Met389Arg)
c.3T>G
c.1163T>G (p.Met388Arg)
c.1139T>G (p.Met380Arg)
c.902T>G (p.Met301Arg)
c.545T>G (p.Met182Arg)
c.1031T>G (p.Met344Arg)
12g.11885940G>ACA384044831ETV6c.1167G>A (p.Met389Ile)
c.4G>A
c.1164G>A (p.Met388Ile)
c.1140G>A (p.Met380Ile)
c.903G>A (p.Met301Ile)
c.546G>A (p.Met182Ile)
c.1032G>A (p.Met344Ile)
COSMIC
12g.11885940G>CCA384044833ETV6c.1167G>C (p.Met389Ile)
c.4G>C
c.1164G>C (p.Met388Ile)
c.1140G>C (p.Met380Ile)
c.903G>C (p.Met301Ile)
c.546G>C (p.Met182Ile)
c.1032G>C (p.Met344Ile)
dbSNP
12g.11885940G>TCA384044832ETV6c.1167G>T (p.Met389Ile)
c.4G>T
c.1164G>T (p.Met388Ile)
c.1140G>T (p.Met380Ile)
c.903G>T (p.Met301Ile)
c.546G>T (p.Met182Ile)
c.1032G>T (p.Met344Ile)
gnomAD v4
12g.11885942_11885950delCA645595229ETV6c.1169_1177del (p.Thr390_Glu392del)
c.6_14del
c.1166_1174del (p.Thr389_Glu391del)
c.1142_1150del (p.Thr381_Glu383del)
c.905_913del (p.Thr302_Glu304del)
c.548_556del (p.Thr183_Glu185del)
c.1034_1042del (p.Thr345_Glu347del)
COSMIC
12g.11885941A>CCA384044834ETV6c.1168A>C (p.Thr390Pro)
c.5A>C
c.1165A>C (p.Thr389Pro)
c.1141A>C (p.Thr381Pro)
c.904A>C (p.Thr302Pro)
c.547A>C (p.Thr183Pro)
c.1033A>C (p.Thr345Pro)
12g.11885941A>GCA384044835ETV6c.1168A>G (p.Thr390Ala)
c.5A>G
c.1165A>G (p.Thr389Ala)
c.1141A>G (p.Thr381Ala)
c.904A>G (p.Thr302Ala)
c.547A>G (p.Thr183Ala)
c.1033A>G (p.Thr345Ala)
12g.11885941A>TCA384044836ETV6c.1168A>T (p.Thr390Ser)
c.5A>T
c.1165A>T (p.Thr389Ser)
c.1141A>T (p.Thr381Ser)
c.904A>T (p.Thr302Ser)
c.547A>T (p.Thr183Ser)
c.1033A>T (p.Thr345Ser)
12g.11885942C>ACA384044837ETV6c.1169C>A (p.Thr390Asn)
c.6C>A
c.1166C>A (p.Thr389Asn)
c.1142C>A (p.Thr381Asn)
c.905C>A (p.Thr302Asn)
c.548C>A (p.Thr183Asn)
c.1034C>A (p.Thr345Asn)
12g.11885942C>GCA384044838ETV6c.1169C>G (p.Thr390Ser)
c.6C>G
c.1166C>G (p.Thr389Ser)
c.1142C>G (p.Thr381Ser)
c.905C>G (p.Thr302Ser)
c.548C>G (p.Thr183Ser)
c.1034C>G (p.Thr345Ser)
12g.11885942C>TCA384044839ETV6c.1169C>T (p.Thr390Ile)
c.6C>T
c.1166C>T (p.Thr389Ile)
c.1142C>T (p.Thr381Ile)
c.905C>T (p.Thr302Ile)
c.548C>T (p.Thr183Ile)
c.1034C>T (p.Thr345Ile)
ClinVar
12g.11885943C>ACA478767199ETV6c.1170C>A (p.Thr390=)
c.7C>A
c.1167C>A (p.Thr389=)
c.1143C>A (p.Thr381=)
c.906C>A (p.Thr302=)
c.549C>A (p.Thr183=)
c.1035C>A (p.Thr345=)
12g.11885943C>GCA478767200ETV6c.1170C>G (p.Thr390=)
c.7C>G
c.1167C>G (p.Thr389=)
c.1143C>G (p.Thr381=)
c.906C>G (p.Thr302=)
c.549C>G (p.Thr183=)
c.1035C>G (p.Thr345=)
12g.11885943C>TCA478767201ETV6c.1170C>T (p.Thr390=)
c.7C>T
c.1167C>T (p.Thr389=)
c.1143C>T (p.Thr381=)
c.906C>T (p.Thr302=)
c.549C>T (p.Thr183=)
c.1035C>T (p.Thr345=)
12g.11885944delCA645595230ETV6c.1171del (p.Tyr391MetfsTer14)
c.8del
c.1168del (p.Tyr390MetfsTer14)
c.1144del (p.Tyr382MetfsTer14)
c.907del (p.Tyr303MetfsTer14)
c.550del (p.Tyr184MetfsTer14)
c.1036del (p.Tyr346MetfsTer14)
COSMIC
12g.11885944T>ACA384044840ETV6c.1171T>A (p.Tyr391Asn)
c.8T>A
c.1168T>A (p.Tyr390Asn)
c.1144T>A (p.Tyr382Asn)
c.907T>A (p.Tyr303Asn)
c.550T>A (p.Tyr184Asn)
c.1036T>A (p.Tyr346Asn)
12g.11885944T>CCA384044841ETV6c.1171T>C (p.Tyr391His)
c.8T>C
c.1168T>C (p.Tyr390His)
c.1144T>C (p.Tyr382His)
c.907T>C (p.Tyr303His)
c.550T>C (p.Tyr184His)
c.1036T>C (p.Tyr346His)
12g.11885944T>GCA384044842ETV6c.1171T>G (p.Tyr391Asp)
c.8T>G
c.1168T>G (p.Tyr390Asp)
c.1144T>G (p.Tyr382Asp)
c.907T>G (p.Tyr303Asp)
c.550T>G (p.Tyr184Asp)
c.1036T>G (p.Tyr346Asp)
12g.11885945A>CCA384044843ETV6c.1172A>C (p.Tyr391Ser)
c.9A>C
c.1169A>C (p.Tyr390Ser)
c.1145A>C (p.Tyr382Ser)
c.908A>C (p.Tyr303Ser)
c.551A>C (p.Tyr184Ser)
c.1037A>C (p.Tyr346Ser)
12g.11885945A>GCA384044844ETV6c.1172A>G (p.Tyr391Cys)
c.9A>G
c.1169A>G (p.Tyr390Cys)
c.1145A>G (p.Tyr382Cys)
c.908A>G (p.Tyr303Cys)
c.551A>G (p.Tyr184Cys)
c.1037A>G (p.Tyr346Cys)
dbSNP COSMIC
12g.11885945A>TCA384044845ETV6c.1172A>T (p.Tyr391Phe)
c.9A>T
c.1169A>T (p.Tyr390Phe)
c.1145A>T (p.Tyr382Phe)
c.908A>T (p.Tyr303Phe)
c.551A>T (p.Tyr184Phe)
c.1037A>T (p.Tyr346Phe)
12g.11885946T>ACA384044846ETV6c.1173T>A (p.Tyr391Ter)
c.10T>A
c.1170T>A (p.Tyr390Ter)
c.1146T>A (p.Tyr382Ter)
c.909T>A (p.Tyr303Ter)
c.552T>A (p.Tyr184Ter)
c.1038T>A (p.Tyr346Ter)
COSMIC
12g.11885946T>CCA6454427ETV6c.1173T>C (p.Tyr391=)
c.10T>C
c.1170T>C (p.Tyr390=)
c.1146T>C (p.Tyr382=)
c.909T>C (p.Tyr303=)
c.552T>C (p.Tyr184=)
c.1038T>C (p.Tyr346=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.11885946T>GCA384044847ETV6c.1173T>G (p.Tyr391Ter)
c.10T>G
c.1170T>G (p.Tyr390Ter)
c.1146T>G (p.Tyr382Ter)
c.909T>G (p.Tyr303Ter)
c.552T>G (p.Tyr184Ter)
c.1038T>G (p.Tyr346Ter)
gnomAD v4
12g.11885946T=CA2016648593ETV6c.1173T= (p.Tyr391=)
c.10T=
c.1170T= (p.Tyr390=)
c.1146T= (p.Tyr382=)
c.909T= (p.Tyr303=)
c.552T= (p.Tyr184=)
c.1038T= (p.Tyr346=)
12g.11885947G>ACA384044848ETV6c.1174G>A (p.Glu392Lys)
c.11G>A
c.1171G>A (p.Glu391Lys)
c.1147G>A (p.Glu383Lys)
c.910G>A (p.Glu304Lys)
c.553G>A (p.Glu185Lys)
c.1039G>A (p.Glu347Lys)
dbSNP COSMIC
12g.11885947G>CCA384044849ETV6c.1174G>C (p.Glu392Gln)
c.11G>C
c.1171G>C (p.Glu391Gln)
c.1147G>C (p.Glu383Gln)
c.910G>C (p.Glu304Gln)
c.553G>C (p.Glu185Gln)
c.1039G>C (p.Glu347Gln)
12g.11885947G>TCA384044850ETV6c.1174G>T (p.Glu392Ter)
c.11G>T
c.1171G>T (p.Glu391Ter)
c.1147G>T (p.Glu383Ter)
c.910G>T (p.Glu304Ter)
c.553G>T (p.Glu185Ter)
c.1039G>T (p.Glu347Ter)
12g.11885948A>CCA384044851ETV6c.1175A>C (p.Glu392Ala)
c.12A>C
c.1172A>C (p.Glu391Ala)
c.1148A>C (p.Glu383Ala)
c.911A>C (p.Glu304Ala)
c.554A>C (p.Glu185Ala)
c.1040A>C (p.Glu347Ala)
12g.11885948A>GCA384044852ETV6c.1175A>G (p.Glu392Gly)
c.12A>G
c.1172A>G (p.Glu391Gly)
c.1148A>G (p.Glu383Gly)
c.911A>G (p.Glu304Gly)
c.554A>G (p.Glu185Gly)
c.1040A>G (p.Glu347Gly)
12g.11885948A>TCA384044853ETV6c.1175A>T (p.Glu392Val)
c.12A>T
c.1172A>T (p.Glu391Val)
c.1148A>T (p.Glu383Val)
c.911A>T (p.Glu304Val)
c.554A>T (p.Glu185Val)
c.1040A>T (p.Glu347Val)
12g.11885949G>ACA478767202ETV6c.1176G>A (p.Glu392=)
c.13G>A
c.1173G>A (p.Glu391=)
c.1149G>A (p.Glu383=)
c.912G>A (p.Glu304=)
c.555G>A (p.Glu185=)
c.1041G>A (p.Glu347=)
gnomAD v4
12g.11885949G>CCA384044854ETV6c.1176G>C (p.Glu392Asp)
c.13G>C
c.1173G>C (p.Glu391Asp)
c.1149G>C (p.Glu383Asp)
c.912G>C (p.Glu304Asp)
c.555G>C (p.Glu185Asp)
c.1041G>C (p.Glu347Asp)
12g.11885949G>TCA384044855ETV6c.1176G>T (p.Glu392Asp)
c.13G>T
c.1173G>T (p.Glu391Asp)
c.1149G>T (p.Glu383Asp)
c.912G>T (p.Glu304Asp)
c.555G>T (p.Glu185Asp)
c.1041G>T (p.Glu347Asp)
12g.11885950A>CCA384044856ETV6c.1177A>C (p.Lys393Gln)
c.14A>C
c.1174A>C (p.Lys392Gln)
c.1150A>C (p.Lys384Gln)
c.913A>C (p.Lys305Gln)
c.556A>C (p.Lys186Gln)
c.1042A>C (p.Lys348Gln)
12g.11885950A>GCA384044857ETV6c.1177A>G (p.Lys393Glu)
c.14A>G
c.1174A>G (p.Lys392Glu)
c.1150A>G (p.Lys384Glu)
c.913A>G (p.Lys305Glu)
c.556A>G (p.Lys186Glu)
c.1042A>G (p.Lys348Glu)
12g.11885950A>TCA384044858ETV6c.1177A>T (p.Lys393Ter)
c.14A>T
c.1174A>T (p.Lys392Ter)
c.1150A>T (p.Lys384Ter)
c.913A>T (p.Lys305Ter)
c.556A>T (p.Lys186Ter)
c.1042A>T (p.Lys348Ter)
12g.11885951A>CCA384044859ETV6c.1178A>C (p.Lys393Thr)
c.15A>C
c.1175A>C (p.Lys392Thr)
c.1151A>C (p.Lys384Thr)
c.914A>C (p.Lys305Thr)
c.557A>C (p.Lys186Thr)
c.1043A>C (p.Lys348Thr)
12g.11885951A>GCA384044860ETV6c.1178A>G (p.Lys393Arg)
c.15A>G
c.1175A>G (p.Lys392Arg)
c.1151A>G (p.Lys384Arg)
c.914A>G (p.Lys305Arg)
c.557A>G (p.Lys186Arg)
c.1043A>G (p.Lys348Arg)
12g.11885951A>TCA384044861ETV6c.1178A>T (p.Lys393Ile)
c.15A>T
c.1175A>T (p.Lys392Ile)
c.1151A>T (p.Lys384Ile)
c.914A>T (p.Lys305Ile)
c.557A>T (p.Lys186Ile)
c.1043A>T (p.Lys348Ile)
12g.11885952A=CA2016648594ETV6c.1179A= (p.Lys393=)
c.16A=
c.1176A= (p.Lys392=)
c.1152A= (p.Lys384=)
c.915A= (p.Lys305=)
c.558A= (p.Lys186=)
c.1044A= (p.Lys348=)
12g.11885952A>CCA384044862ETV6c.1179A>C (p.Lys393Asn)
c.16A>C
c.1176A>C (p.Lys392Asn)
c.1152A>C (p.Lys384Asn)
c.915A>C (p.Lys305Asn)
c.558A>C (p.Lys186Asn)
c.1044A>C (p.Lys348Asn)
12g.11885952A>GCA478767203ETV6c.1179A>G (p.Lys393=)
c.16A>G
c.1176A>G (p.Lys392=)
c.1152A>G (p.Lys384=)
c.915A>G (p.Lys305=)
c.558A>G (p.Lys186=)
c.1044A>G (p.Lys348=)
dbSNP gnomAD v4
12g.11885952A>TCA384044863ETV6c.1179A>T (p.Lys393Asn)
c.16A>T
c.1176A>T (p.Lys392Asn)
c.1152A>T (p.Lys384Asn)
c.915A>T (p.Lys305Asn)
c.558A>T (p.Lys186Asn)
c.1044A>T (p.Lys348Asn)
12g.11885953A>CCA384044864ETV6c.1180A>C (p.Met394Leu)
c.17A>C
c.1177A>C (p.Met393Leu)
c.1153A>C (p.Met385Leu)
c.916A>C (p.Met306Leu)
c.559A>C (p.Met187Leu)
c.1045A>C (p.Met349Leu)
12g.11885953A>GCA384044865ETV6c.1180A>G (p.Met394Val)
c.17A>G
c.1177A>G (p.Met393Val)
c.1153A>G (p.Met385Val)
c.916A>G (p.Met306Val)
c.559A>G (p.Met187Val)
c.1045A>G (p.Met349Val)
gnomAD v4
12g.11885953A>TCA384044866ETV6c.1180A>T (p.Met394Leu)
c.17A>T
c.1177A>T (p.Met393Leu)
c.1153A>T (p.Met385Leu)
c.916A>T (p.Met306Leu)
c.559A>T (p.Met187Leu)
c.1045A>T (p.Met349Leu)
12g.11885954T>ACA384044867ETV6c.1181T>A (p.Met394Lys)
c.18T>A
c.1178T>A (p.Met393Lys)
c.1154T>A (p.Met385Lys)
c.917T>A (p.Met306Lys)
c.560T>A (p.Met187Lys)
c.1046T>A (p.Met349Lys)
12g.11885954T>CCA384044868ETV6c.1181T>C (p.Met394Thr)
c.18T>C
c.1178T>C (p.Met393Thr)
c.1154T>C (p.Met385Thr)
c.917T>C (p.Met306Thr)
c.560T>C (p.Met187Thr)
c.1046T>C (p.Met349Thr)
12g.11885954T>GCA384044869ETV6c.1181T>G (p.Met394Arg)
c.18T>G
c.1178T>G (p.Met393Arg)
c.1154T>G (p.Met385Arg)
c.917T>G (p.Met306Arg)
c.560T>G (p.Met187Arg)
c.1046T>G (p.Met349Arg)
12g.11885955G>ACA384044870ETV6c.1182G>A (p.Met394Ile)
c.19G>A
c.1179G>A (p.Met393Ile)
c.1155G>A (p.Met385Ile)
c.918G>A (p.Met306Ile)
c.561G>A (p.Met187Ile)
c.1047G>A (p.Met349Ile)
dbSNP gnomAD v3 gnomAD v4
12g.11885955G>CCA384044871ETV6c.1182G>C (p.Met394Ile)
c.19G>C
c.1179G>C (p.Met393Ile)
c.1155G>C (p.Met385Ile)
c.918G>C (p.Met306Ile)
c.561G>C (p.Met187Ile)
c.1047G>C (p.Met349Ile)
12g.11885955G=CA2016648595ETV6c.1182G= (p.Met394=)
c.19G=
c.1179G= (p.Met393=)
c.1155G= (p.Met385=)
c.918G= (p.Met306=)
c.561G= (p.Met187=)
c.1047G= (p.Met349=)
12g.11885955G>TCA384044872ETV6c.1182G>T (p.Met394Ile)
c.19G>T
c.1179G>T (p.Met393Ile)
c.1155G>T (p.Met385Ile)
c.918G>T (p.Met306Ile)
c.561G>T (p.Met187Ile)
c.1047G>T (p.Met349Ile)
12g.11885956T>ACA384044873ETV6c.1183T>A (p.Ser395Thr)
c.20T>A
c.1180T>A (p.Ser394Thr)
c.1156T>A (p.Ser386Thr)
c.919T>A (p.Ser307Thr)
c.562T>A (p.Ser188Thr)
c.1048T>A (p.Ser350Thr)
dbSNP
12g.11885956T>CCA384044874ETV6c.1183T>C (p.Ser395Pro)
c.20T>C
c.1180T>C (p.Ser394Pro)
c.1156T>C (p.Ser386Pro)
c.919T>C (p.Ser307Pro)
c.562T>C (p.Ser188Pro)
c.1048T>C (p.Ser350Pro)
12g.11885956T>GCA384044875ETV6c.1183T>G (p.Ser395Ala)
c.20T>G
c.1180T>G (p.Ser394Ala)
c.1156T>G (p.Ser386Ala)
c.919T>G (p.Ser307Ala)
c.562T>G (p.Ser188Ala)
c.1048T>G (p.Ser350Ala)
12g.11885957C>ACA384044877ETV6c.1184C>A (p.Ser395Tyr)
c.21C>A
c.1181C>A (p.Ser394Tyr)
c.1157C>A (p.Ser386Tyr)
c.920C>A (p.Ser307Tyr)
c.563C>A (p.Ser188Tyr)
c.1049C>A (p.Ser350Tyr)
12g.11885957C>GCA384044878ETV6c.1184C>G (p.Ser395Cys)
c.21C>G
c.1181C>G (p.Ser394Cys)
c.1157C>G (p.Ser386Cys)
c.920C>G (p.Ser307Cys)
c.563C>G (p.Ser188Cys)
c.1049C>G (p.Ser350Cys)
12g.11885957C>TCA384044876ETV6c.1184C>T (p.Ser395Phe)
c.21C>T
c.1181C>T (p.Ser394Phe)
c.1157C>T (p.Ser386Phe)
c.920C>T (p.Ser307Phe)
c.563C>T (p.Ser188Phe)
c.1049C>T (p.Ser350Phe)
dbSNP
12g.11885958C>ACA478767204ETV6c.1185C>A (p.Ser395=)
c.22C>A
c.1182C>A (p.Ser394=)
c.1158C>A (p.Ser386=)
c.921C>A (p.Ser307=)
c.564C>A (p.Ser188=)
c.1050C>A (p.Ser350=)
12g.11885958C>GCA478767205ETV6c.1185C>G (p.Ser395=)
c.22C>G
c.1182C>G (p.Ser394=)
c.1158C>G (p.Ser386=)
c.921C>G (p.Ser307=)
c.564C>G (p.Ser188=)
c.1050C>G (p.Ser350=)
gnomAD v4
12g.11885958C>TCA478767206ETV6c.1185C>T (p.Ser395=)
c.22C>T
c.1182C>T (p.Ser394=)
c.1158C>T (p.Ser386=)
c.921C>T (p.Ser307=)
c.564C>T (p.Ser188=)
c.1050C>T (p.Ser350=)
gnomAD v4
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)

Number of alleles fetched