Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149379313dupCA1671916263TAB2n.1813dup
c.1398dup (p.Thr467TyrfsTer6)
c.546dup (p.Thr183TyrfsTer6)
c.1302dup (p.Thr435TyrfsTer6)
 ClinVar dbSNP
6g.149379313T>ACA452720491TAB2n.1813T>A
c.1398T>A (p.Ile466=)
c.546T>A (p.Ile182=)
c.1302T>A (p.Ile434=)
6g.149379313T>CCA452720493TAB2n.1813T>C
c.1398T>C (p.Ile466=)
c.546T>C (p.Ile182=)
c.1302T>C (p.Ile434=)
6g.149379313T>GCA365999366TAB2n.1813T>G
c.1398T>G (p.Ile466Met)
c.546T>G (p.Ile182Met)
c.1302T>G (p.Ile434Met)
6g.149379314A>CCA365999367TAB2n.1814A>C
c.1399A>C (p.Thr467Pro)
c.547A>C (p.Thr183Pro)
c.1303A>C (p.Thr435Pro)
6g.149379314A>GCA365999368TAB2n.1814A>G
c.1399A>G (p.Thr467Ala)
c.547A>G (p.Thr183Ala)
c.1303A>G (p.Thr435Ala)
6g.149379314A>TCA365999369TAB2n.1814A>T
c.1399A>T (p.Thr467Ser)
c.547A>T (p.Thr183Ser)
c.1303A>T (p.Thr435Ser)
6g.149379315C>ACA365999370TAB2n.1815C>A
c.1400C>A (p.Thr467Lys)
c.548C>A (p.Thr183Lys)
c.1304C>A (p.Thr435Lys)
6g.149379315C>GCA365999371TAB2n.1815C>G
c.1400C>G (p.Thr467Arg)
c.548C>G (p.Thr183Arg)
c.1304C>G (p.Thr435Arg)
6g.149379315C>TCA365999372TAB2n.1815C>T
c.1400C>T (p.Thr467Ile)
c.548C>T (p.Thr183Ile)
c.1304C>T (p.Thr435Ile)
6g.149379316A=CA1671916265TAB2n.1816A=
c.1401A= (p.Thr467=)
c.549A= (p.Thr183=)
c.1305A= (p.Thr435=)
6g.149379316A>CCA452720500TAB2n.1816A>C
c.1401A>C (p.Thr467=)
c.549A>C (p.Thr183=)
c.1305A>C (p.Thr435=)
6g.149379316A>GCA452720502TAB2n.1816A>G
c.1401A>G (p.Thr467=)
c.549A>G (p.Thr183=)
c.1305A>G (p.Thr435=)
 dbSNP gnomAD v4
6g.149379316A>TCA452720503TAB2n.1816A>T
c.1401A>T (p.Thr467=)
c.549A>T (p.Thr183=)
c.1305A>T (p.Thr435=)
6g.149379317G>ACA365999375TAB2n.1817G>A
c.1402G>A (p.Val468Ile)
c.550G>A (p.Val184Ile)
c.1306G>A (p.Val436Ile)
6g.149379317G>CCA365999374TAB2n.1817G>C
c.1402G>C (p.Val468Leu)
c.550G>C (p.Val184Leu)
c.1306G>C (p.Val436Leu)
6g.149379317G>TCA365999373TAB2n.1817G>T
c.1402G>T (p.Val468Phe)
c.550G>T (p.Val184Phe)
c.1306G>T (p.Val436Phe)
6g.149379318T>ACA365999376TAB2n.1818T>A
c.1403T>A (p.Val468Asp)
c.551T>A (p.Val184Asp)
c.1307T>A (p.Val436Asp)
6g.149379318T>CCA365999378TAB2n.1818T>C
c.1403T>C (p.Val468Ala)
c.551T>C (p.Val184Ala)
c.1307T>C (p.Val436Ala)
6g.149379318T>GCA365999377TAB2n.1818T>G
c.1403T>G (p.Val468Gly)
c.551T>G (p.Val184Gly)
c.1307T>G (p.Val436Gly)
6g.149379319C>ACA4041536TAB2n.1819C>A
c.1404C>A (p.Val468=)
c.552C>A (p.Val184=)
c.1308C>A (p.Val436=)
 dbSNP ExAC COSMIC
6g.149379319C=CA1671916267TAB2n.1819C=
c.1404C= (p.Val468=)
c.552C= (p.Val184=)
c.1308C= (p.Val436=)
6g.149379319C>GCA452720521TAB2n.1819C>G
c.1404C>G (p.Val468=)
c.552C>G (p.Val184=)
c.1308C>G (p.Val436=)
6g.149379319C>TCA452720522TAB2n.1819C>T
c.1404C>T (p.Val468=)
c.552C>T (p.Val184=)
c.1308C>T (p.Val436=)
 dbSNP
6g.149379320T>ACA365999379TAB2n.1820T>A
c.1405T>A (p.Ser469Thr)
c.553T>A (p.Ser185Thr)
c.1309T>A (p.Ser437Thr)
6g.149379320T>CCA365999380TAB2n.1820T>C
c.1405T>C (p.Ser469Pro)
c.553T>C (p.Ser185Pro)
c.1309T>C (p.Ser437Pro)
6g.149379320T>GCA365999381TAB2n.1820T>G
c.1405T>G (p.Ser469Ala)
c.553T>G (p.Ser185Ala)
c.1309T>G (p.Ser437Ala)
6g.149379321delCA2573140641TAB2n.1821del
c.1406del (p.Ser469PhefsTer30)
c.554del (p.Ser185PhefsTer30)
c.1310del (p.Ser437PhefsTer30)
 ClinVar dbSNP
6g.149379321C>ACA365999382TAB2n.1821C>A
c.1406C>A (p.Ser469Tyr)
c.554C>A (p.Ser185Tyr)
c.1310C>A (p.Ser437Tyr)
6g.149379321C=CA1671916270TAB2n.1821C=
c.1406C= (p.Ser469=)
c.554C= (p.Ser185=)
c.1310C= (p.Ser437=)
6g.149379321C>GCA365999383TAB2n.1821C>G
c.1406C>G (p.Ser469Cys)
c.554C>G (p.Ser185Cys)
c.1310C>G (p.Ser437Cys)
 dbSNP gnomAD v4
6g.149379321C>TCA365999384TAB2n.1821C>T
c.1406C>T (p.Ser469Phe)
c.554C>T (p.Ser185Phe)
c.1310C>T (p.Ser437Phe)
6g.149379322T>ACA452720536TAB2n.1822T>A
c.1407T>A (p.Ser469=)
c.555T>A (p.Ser185=)
c.1311T>A (p.Ser437=)
6g.149379322T>CCA452720535TAB2n.1822T>C
c.1407T>C (p.Ser469=)
c.555T>C (p.Ser185=)
c.1311T>C (p.Ser437=)
6g.149379322T>GCA452720534TAB2n.1822T>G
c.1407T>G (p.Ser469=)
c.555T>G (p.Ser185=)
c.1311T>G (p.Ser437=)
6g.149379323C>ACA365999385TAB2n.1823C>A
c.1408C>A (p.Pro470Thr)
c.556C>A (p.Pro186Thr)
c.1312C>A (p.Pro438Thr)
6g.149379323C>GCA365999386TAB2n.1823C>G
c.1408C>G (p.Pro470Ala)
c.556C>G (p.Pro186Ala)
c.1312C>G (p.Pro438Ala)
6g.149379323C>TCA365999387TAB2n.1823C>T
c.1408C>T (p.Pro470Ser)
c.556C>T (p.Pro186Ser)
c.1312C>T (p.Pro438Ser)
6g.149379324C>ACA365999388TAB2n.1824C>A
c.1409C>A (p.Pro470His)
c.557C>A (p.Pro186His)
c.1313C>A (p.Pro438His)
6g.149379324C>GCA365999389TAB2n.1824C>G
c.1409C>G (p.Pro470Arg)
c.557C>G (p.Pro186Arg)
c.1313C>G (p.Pro438Arg)
 gnomAD v4
6g.149379324C>TCA365999390TAB2n.1824C>T
c.1409C>T (p.Pro470Leu)
c.557C>T (p.Pro186Leu)
c.1313C>T (p.Pro438Leu)
6g.149379325C>ACA452720545TAB2n.1825C>A
c.1410C>A (p.Pro470=)
c.558C>A (p.Pro186=)
c.1314C>A (p.Pro438=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149379325C=CA1671916274TAB2n.1825C=
c.1410C= (p.Pro470=)
c.558C= (p.Pro186=)
c.1314C= (p.Pro438=)
6g.149379325C>GCA4041538TAB2n.1825C>G
c.1410C>G (p.Pro470=)
c.558C>G (p.Pro186=)
c.1314C>G (p.Pro438=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149379325C>TCA4041537TAB2n.1825C>T
c.1410C>T (p.Pro470=)
c.558C>T (p.Pro186=)
c.1314C>T (p.Pro438=)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.149379326A>CCA365999391TAB2n.1826A>C
c.1411A>C (p.Asn471His)
c.559A>C (p.Asn187His)
c.1315A>C (p.Asn439His)
6g.149379326A>GCA365999392TAB2n.1826A>G
c.1411A>G (p.Asn471Asp)
c.559A>G (p.Asn187Asp)
c.1315A>G (p.Asn439Asp)
6g.149379326A>TCA365999393TAB2n.1826A>T
c.1411A>T (p.Asn471Tyr)
c.559A>T (p.Asn187Tyr)
c.1315A>T (p.Asn439Tyr)
 COSMIC
6g.149379327A=CA1671916276TAB2n.1827A=
c.1412A= (p.Asn471=)
c.560A= (p.Asn187=)
c.1316A= (p.Asn439=)
6g.149379327A>CCA365999394TAB2n.1827A>C
c.1412A>C (p.Asn471Thr)
c.560A>C (p.Asn187Thr)
c.1316A>C (p.Asn439Thr)

Number of alleles fetched