Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.149379223T=CA1671916144TAB2n.1723T=
c.1308T= (p.His436=)
c.456T= (p.His152=)
c.1212T= (p.His404=)
6g.149379224C>ACA365998646TAB2n.1724C>A
c.1309C>A (p.Pro437Thr)
c.457C>A (p.Pro153Thr)
c.1213C>A (p.Pro405Thr)
6g.149379224C>GCA365998647TAB2n.1724C>G
c.1309C>G (p.Pro437Ala)
c.457C>G (p.Pro153Ala)
c.1213C>G (p.Pro405Ala)
6g.149379224C>TCA365998649TAB2n.1724C>T
c.1309C>T (p.Pro437Ser)
c.457C>T (p.Pro153Ser)
c.1213C>T (p.Pro405Ser)
6g.149379225C>ACA365998653TAB2n.1725C>A
c.1310C>A (p.Pro437His)
c.458C>A (p.Pro153His)
c.1214C>A (p.Pro405His)
6g.149379225C>GCA365998656TAB2n.1725C>G
c.1310C>G (p.Pro437Arg)
c.458C>G (p.Pro153Arg)
c.1214C>G (p.Pro405Arg)
6g.149379225C>TCA365998658TAB2n.1725C>T
c.1310C>T (p.Pro437Leu)
c.458C>T (p.Pro153Leu)
c.1214C>T (p.Pro405Leu)
6g.149379226_149379227delCA2695207153TAB2n.1726_1727del
c.1311_1312del (p.Pro438GlnfsTer8)
c.459_460del (p.Pro154GlnfsTer8)
c.1215_1216del (p.Pro406GlnfsTer8)
6g.149379226T>ACA452721051TAB2n.1726T>A
c.1311T>A (p.Pro437=)
c.459T>A (p.Pro153=)
c.1215T>A (p.Pro405=)
6g.149379226T>CCA452721053TAB2n.1726T>C
c.1311T>C (p.Pro437=)
c.459T>C (p.Pro153=)
c.1215T>C (p.Pro405=)
6g.149379226T>GCA452721054TAB2n.1726T>G
c.1311T>G (p.Pro437=)
c.459T>G (p.Pro153=)
c.1215T>G (p.Pro405=)
6g.149379227C>ACA365998661TAB2n.1727C>A
c.1312C>A (p.Pro438Thr)
c.460C>A (p.Pro154Thr)
c.1216C>A (p.Pro406Thr)
6g.149379227C>GCA365998664TAB2n.1727C>G
c.1312C>G (p.Pro438Ala)
c.460C>G (p.Pro154Ala)
c.1216C>G (p.Pro406Ala)
 gnomAD v4
6g.149379227C>TCA365998663TAB2n.1727C>T
c.1312C>T (p.Pro438Ser)
c.460C>T (p.Pro154Ser)
c.1216C>T (p.Pro406Ser)
6g.149379228C>ACA365998667TAB2n.1728C>A
c.1313C>A (p.Pro438His)
c.461C>A (p.Pro154His)
c.1217C>A (p.Pro406His)
6g.149379228C>GCA365998669TAB2n.1728C>G
c.1313C>G (p.Pro438Arg)
c.461C>G (p.Pro154Arg)
c.1217C>G (p.Pro406Arg)
6g.149379228C>TCA365998671TAB2n.1728C>T
c.1313C>T (p.Pro438Leu)
c.461C>T (p.Pro154Leu)
c.1217C>T (p.Pro406Leu)
 gnomAD v4
6g.149379229C>ACA452721059TAB2n.1729C>A
c.1314C>A (p.Pro438=)
c.462C>A (p.Pro154=)
c.1218C>A (p.Pro406=)
6g.149379229C=CA1671916147TAB2n.1729C=
c.1314C= (p.Pro438=)
c.462C= (p.Pro154=)
c.1218C= (p.Pro406=)
6g.149379229C>GCA452721061TAB2n.1729C>G
c.1314C>G (p.Pro438=)
c.462C>G (p.Pro154=)
c.1218C>G (p.Pro406=)
 gnomAD v4
6g.149379229C>TCA452721064TAB2n.1729C>T
c.1314C>T (p.Pro438=)
c.462C>T (p.Pro154=)
c.1218C>T (p.Pro406=)
 dbSNP gnomAD v2
6g.149379230A>CCA365998674TAB2n.1730A>C
c.1315A>C (p.Lys439Gln)
c.463A>C (p.Lys155Gln)
c.1219A>C (p.Lys407Gln)
6g.149379230A>GCA365998677TAB2n.1730A>G
c.1315A>G (p.Lys439Glu)
c.463A>G (p.Lys155Glu)
c.1219A>G (p.Lys407Glu)

Number of alleles fetched