Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149379208C>ACA452721008TAB2n.1708C>A
c.1293C>A (p.Ala431=)
c.441C>A (p.Ala147=)
c.1197C>A (p.Ala399=)
6g.149379208C=CA1671916139TAB2n.1708C=
c.1293C= (p.Ala431=)
c.441C= (p.Ala147=)
c.1197C= (p.Ala399=)
6g.149379208C>GCA452721010TAB2n.1708C>G
c.1293C>G (p.Ala431=)
c.441C>G (p.Ala147=)
c.1197C>G (p.Ala399=)
 gnomAD v4
6g.149379208C>TCA452721011TAB2n.1708C>T
c.1293C>T (p.Ala431=)
c.441C>T (p.Ala147=)
c.1197C>T (p.Ala399=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149379209T>ACA365998553TAB2n.1709T>A
c.1294T>A (p.Phe432Ile)
c.442T>A (p.Phe148Ile)
c.1198T>A (p.Phe400Ile)
6g.149379209T>CCA365998557TAB2n.1709T>C
c.1294T>C (p.Phe432Leu)
c.442T>C (p.Phe148Leu)
c.1198T>C (p.Phe400Leu)
 gnomAD v4
6g.149379209T>GCA365998555TAB2n.1709T>G
c.1294T>G (p.Phe432Val)
c.442T>G (p.Phe148Val)
c.1198T>G (p.Phe400Val)
6g.149379210T>ACA365998560TAB2n.1710T>A
c.1295T>A (p.Phe432Tyr)
c.443T>A (p.Phe148Tyr)
c.1199T>A (p.Phe400Tyr)
6g.149379210T>CCA365998562TAB2n.1710T>C
c.1295T>C (p.Phe432Ser)
c.443T>C (p.Phe148Ser)
c.1199T>C (p.Phe400Ser)
6g.149379210T>GCA365998564TAB2n.1710T>G
c.1295T>G (p.Phe432Cys)
c.443T>G (p.Phe148Cys)
c.1199T>G (p.Phe400Cys)
6g.149379211T>ACA365998566TAB2n.1711T>A
c.1296T>A (p.Phe432Leu)
c.444T>A (p.Phe148Leu)
c.1200T>A (p.Phe400Leu)
6g.149379211T>CCA452721014TAB2n.1711T>C
c.1296T>C (p.Phe432=)
c.444T>C (p.Phe148=)
c.1200T>C (p.Phe400=)
 gnomAD v4
6g.149379211T>GCA365998568TAB2n.1711T>G
c.1296T>G (p.Phe432Leu)
c.444T>G (p.Phe148Leu)
c.1200T>G (p.Phe400Leu)
6g.149379212A>CCA365998571TAB2n.1712A>C
c.1297A>C (p.Ile433Leu)
c.445A>C (p.Ile149Leu)
c.1201A>C (p.Ile401Leu)
6g.149379212A>GCA365998573TAB2n.1712A>G
c.1297A>G (p.Ile433Val)
c.445A>G (p.Ile149Val)
c.1201A>G (p.Ile401Val)
6g.149379212A>TCA365998574TAB2n.1712A>T
c.1297A>T (p.Ile433Phe)
c.445A>T (p.Ile149Phe)
c.1201A>T (p.Ile401Phe)
6g.149379213T>ACA365998576TAB2n.1713T>A
c.1298T>A (p.Ile433Asn)
c.446T>A (p.Ile149Asn)
c.1202T>A (p.Ile401Asn)
6g.149379213T>CCA365998578TAB2n.1713T>C
c.1298T>C (p.Ile433Thr)
c.446T>C (p.Ile149Thr)
c.1202T>C (p.Ile401Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.149379213T>GCA365998580TAB2n.1713T>G
c.1298T>G (p.Ile433Ser)
c.446T>G (p.Ile149Ser)
c.1202T>G (p.Ile401Ser)
6g.149379213T=CA1671916142TAB2n.1713T=
c.1298T= (p.Ile433=)
c.446T= (p.Ile149=)
c.1202T= (p.Ile401=)
6g.149379214T>ACA452721025TAB2n.1714T>A
c.1299T>A (p.Ile433=)
c.447T>A (p.Ile149=)
c.1203T>A (p.Ile401=)
6g.149379214T>CCA452721024TAB2n.1714T>C
c.1299T>C (p.Ile433=)
c.447T>C (p.Ile149=)
c.1203T>C (p.Ile401=)
6g.149379214T>GCA365998582TAB2n.1714T>G
c.1299T>G (p.Ile433Met)
c.447T>G (p.Ile149Met)
c.1203T>G (p.Ile401Met)
6g.149379215C>ACA365998585TAB2n.1715C>A
c.1300C>A (p.His434Asn)
c.448C>A (p.His150Asn)
c.1204C>A (p.His402Asn)
6g.149379215C>GCA365998583TAB2n.1715C>G
c.1300C>G (p.His434Asp)
c.448C>G (p.His150Asp)
c.1204C>G (p.His402Asp)
6g.149379215C>TCA365998584TAB2n.1715C>T
c.1300C>T (p.His434Tyr)
c.448C>T (p.His150Tyr)
c.1204C>T (p.His402Tyr)
6g.149379216A>CCA365998588TAB2n.1716A>C
c.1301A>C (p.His434Pro)
c.449A>C (p.His150Pro)
c.1205A>C (p.His402Pro)
6g.149379216A>GCA365998590TAB2n.1716A>G
c.1301A>G (p.His434Arg)
c.449A>G (p.His150Arg)
c.1205A>G (p.His402Arg)
 gnomAD v4
6g.149379216A>TCA365998592TAB2n.1716A>T
c.1301A>T (p.His434Leu)
c.449A>T (p.His150Leu)
c.1205A>T (p.His402Leu)
6g.149379217T>ACA365998595TAB2n.1717T>A
c.1302T>A (p.His434Gln)
c.450T>A (p.His150Gln)
c.1206T>A (p.His402Gln)
6g.149379217T>CCA452721033TAB2n.1717T>C
c.1302T>C (p.His434=)
c.450T>C (p.His150=)
c.1206T>C (p.His402=)
6g.149379217T>GCA365998607TAB2n.1717T>G
c.1302T>G (p.His434Gln)
c.450T>G (p.His150Gln)
c.1206T>G (p.His402Gln)
6g.149379218C>ACA365998611TAB2n.1718C>A
c.1303C>A (p.His435Asn)
c.451C>A (p.His151Asn)
c.1207C>A (p.His403Asn)
6g.149379218C>GCA365998613TAB2n.1718C>G
c.1303C>G (p.His435Asp)
c.451C>G (p.His151Asp)
c.1207C>G (p.His403Asp)
6g.149379218C>TCA365998614TAB2n.1718C>T
c.1303C>T (p.His435Tyr)
c.451C>T (p.His151Tyr)
c.1207C>T (p.His403Tyr)
6g.149379219A>CCA365998617TAB2n.1719A>C
c.1304A>C (p.His435Pro)
c.452A>C (p.His151Pro)
c.1208A>C (p.His403Pro)
6g.149379219A>GCA365998618TAB2n.1719A>G
c.1304A>G (p.His435Arg)
c.452A>G (p.His151Arg)
c.1208A>G (p.His403Arg)
 gnomAD v4
6g.149379219A>TCA365998621TAB2n.1719A>T
c.1304A>T (p.His435Leu)
c.452A>T (p.His151Leu)
c.1208A>T (p.His403Leu)
6g.149379220C>ACA365998626TAB2n.1720C>A
c.1305C>A (p.His435Gln)
c.453C>A (p.His151Gln)
c.1209C>A (p.His403Gln)
6g.149379220C>GCA365998624TAB2n.1720C>G
c.1305C>G (p.His435Gln)
c.453C>G (p.His151Gln)
c.1209C>G (p.His403Gln)
6g.149379220C>TCA452721037TAB2n.1720C>T
c.1305C>T (p.His435=)
c.453C>T (p.His151=)
c.1209C>T (p.His403=)
6g.149379221C>ACA365998628TAB2n.1721C>A
c.1306C>A (p.His436Asn)
c.454C>A (p.His152Asn)
c.1210C>A (p.His404Asn)
6g.149379221C>GCA365998630TAB2n.1721C>G
c.1306C>G (p.His436Asp)
c.454C>G (p.His152Asp)
c.1210C>G (p.His404Asp)
6g.149379221C>TCA365998632TAB2n.1721C>T
c.1306C>T (p.His436Tyr)
c.454C>T (p.His152Tyr)
c.1210C>T (p.His404Tyr)
6g.149379222A>CCA365998635TAB2n.1722A>C
c.1307A>C (p.His436Pro)
c.455A>C (p.His152Pro)
c.1211A>C (p.His404Pro)
6g.149379222A>GCA365998637TAB2n.1722A>G
c.1307A>G (p.His436Arg)
c.455A>G (p.His152Arg)
c.1211A>G (p.His404Arg)
 COSMIC
6g.149379222A>TCA365998638TAB2n.1722A>T
c.1307A>T (p.His436Leu)
c.455A>T (p.His152Leu)
c.1211A>T (p.His404Leu)
6g.149379223T>ACA365998643TAB2n.1723T>A
c.1308T>A (p.His436Gln)
c.456T>A (p.His152Gln)
c.1212T>A (p.His404Gln)
6g.149379223T>CCA452721042TAB2n.1723T>C
c.1308T>C (p.His436=)
c.456T>C (p.His152=)
c.1212T>C (p.His404=)
6g.149379223T>GCA4041521TAB2n.1723T>G
c.1308T>G (p.His436Gln)
c.456T>G (p.His152Gln)
c.1212T>G (p.His404Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched