Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149378327A>CCA365994005TAB2n.827A>C
c.412A>C (p.Asn138His)
c.-96-345A>C (n.-96-345A>C)
c.190A>C (p.Asn64His)
c.316A>C (p.Asn106His)
6g.149378327A>GCA365994008TAB2n.827A>G
c.412A>G (p.Asn138Asp)
c.-96-345A>G (n.-96-345A>G)
c.190A>G (p.Asn64Asp)
c.316A>G (p.Asn106Asp)
6g.149378327A>TCA365994011TAB2n.827A>T
c.412A>T (p.Asn138Tyr)
c.-96-345A>T (n.-96-345A>T)
c.190A>T (p.Asn64Tyr)
c.316A>T (p.Asn106Tyr)
6g.149378328A>CCA365994026TAB2n.828A>C
c.413A>C (p.Asn138Thr)
c.-96-344A>C (n.-96-344A>C)
c.191A>C (p.Asn64Thr)
c.317A>C (p.Asn106Thr)
6g.149378328A>GCA365994022TAB2n.828A>G
c.413A>G (p.Asn138Ser)
c.-96-344A>G (n.-96-344A>G)
c.191A>G (p.Asn64Ser)
c.317A>G (p.Asn106Ser)
6g.149378328A>TCA365994016TAB2n.828A>T
c.413A>T (p.Asn138Ile)
c.-96-344A>T (n.-96-344A>T)
c.191A>T (p.Asn64Ile)
c.317A>T (p.Asn106Ile)
6g.149378329T>ACA365994030TAB2n.829T>A
c.414T>A (p.Asn138Lys)
c.-96-343T>A (n.-96-343T>A)
c.192T>A (p.Asn64Lys)
c.318T>A (p.Asn106Lys)
6g.149378329T>CCA452719821TAB2n.829T>C
c.414T>C (p.Asn138=)
c.-96-343T>C (n.-96-343T>C)
c.192T>C (p.Asn64=)
c.318T>C (p.Asn106=)
6g.149378329T>GCA365994034TAB2n.829T>G
c.414T>G (p.Asn138Lys)
c.-96-343T>G (n.-96-343T>G)
c.192T>G (p.Asn64Lys)
c.318T>G (p.Asn106Lys)
6g.149378330G>ACA4041400TAB2n.830G>A
c.415G>A (p.Val139Ile)
c.-96-342G>A (n.-96-342G>A)
c.193G>A (p.Val65Ile)
c.319G>A (p.Val107Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378330G>CCA365994037TAB2n.830G>C
c.415G>C (p.Val139Leu)
c.-96-342G>C (n.-96-342G>C)
c.193G>C (p.Val65Leu)
c.319G>C (p.Val107Leu)
6g.149378330G=CA1671915018TAB2n.830G=
c.415G= (p.Val139=)
c.-96-342G= (n.-96-342G=)
c.193G= (p.Val65=)
c.319G= (p.Val107=)
6g.149378330G>TCA365994038TAB2n.830G>T
c.415G>T (p.Val139Phe)
c.-96-342G>T (n.-96-342G>T)
c.193G>T (p.Val65Phe)
c.319G>T (p.Val107Phe)
6g.149378331T>ACA365994040TAB2n.831T>A
c.416T>A (p.Val139Asp)
c.-96-341T>A (n.-96-341T>A)
c.194T>A (p.Val65Asp)
c.320T>A (p.Val107Asp)
6g.149378331T>CCA365994042TAB2n.831T>C
c.416T>C (p.Val139Ala)
c.-96-341T>C (n.-96-341T>C)
c.194T>C (p.Val65Ala)
c.320T>C (p.Val107Ala)
6g.149378331T>GCA365994045TAB2n.831T>G
c.416T>G (p.Val139Gly)
c.-96-341T>G (n.-96-341T>G)
c.194T>G (p.Val65Gly)
c.320T>G (p.Val107Gly)
6g.149378335delCA452719822TAB2n.835del
c.420del (p.Phe140LeufsTer20)
c.-96-337del (n.-96-337del)
c.198del (p.Phe66LeufsTer20)
c.324del (p.Phe108LeufsTer20)
 COSMIC
6g.149378332T>ACA452719823TAB2n.832T>A
c.417T>A (p.Val139=)
c.-96-340T>A (n.-96-340T>A)
c.195T>A (p.Val65=)
c.321T>A (p.Val107=)
6g.149378332T>CCA452719824TAB2n.832T>C
c.417T>C (p.Val139=)
c.-96-340T>C (n.-96-340T>C)
c.195T>C (p.Val65=)
c.321T>C (p.Val107=)
6g.149378332T>GCA452719825TAB2n.832T>G
c.417T>G (p.Val139=)
c.-96-340T>G (n.-96-340T>G)
c.195T>G (p.Val65=)
c.321T>G (p.Val107=)
 dbSNP
6g.149378332T=CA1671915025TAB2n.832T=
c.417T= (p.Val139=)
c.-96-340T= (n.-96-340T=)
c.195T= (p.Val65=)
c.321T= (p.Val107=)
6g.149378333T>ACA365994049TAB2n.833T>A
c.418T>A (p.Phe140Ile)
c.-96-339T>A (n.-96-339T>A)
c.196T>A (p.Phe66Ile)
c.322T>A (p.Phe108Ile)
6g.149378333T>CCA365994056TAB2n.833T>C
c.418T>C (p.Phe140Leu)
c.-96-339T>C (n.-96-339T>C)
c.196T>C (p.Phe66Leu)
c.322T>C (p.Phe108Leu)
6g.149378333T>GCA365994059TAB2n.833T>G
c.418T>G (p.Phe140Val)
c.-96-339T>G (n.-96-339T>G)
c.196T>G (p.Phe66Val)
c.322T>G (p.Phe108Val)
6g.149378334T>ACA365994063TAB2n.834T>A
c.419T>A (p.Phe140Tyr)
c.-96-338T>A (n.-96-338T>A)
c.197T>A (p.Phe66Tyr)
c.323T>A (p.Phe108Tyr)
6g.149378334T>CCA365994065TAB2n.834T>C
c.419T>C (p.Phe140Ser)
c.-96-338T>C (n.-96-338T>C)
c.197T>C (p.Phe66Ser)
c.323T>C (p.Phe108Ser)
6g.149378334T>GCA365994068TAB2n.834T>G
c.419T>G (p.Phe140Cys)
c.-96-338T>G (n.-96-338T>G)
c.197T>G (p.Phe66Cys)
c.323T>G (p.Phe108Cys)
6g.149378335T>ACA4041401TAB2n.835T>A
c.420T>A (p.Phe140Leu)
c.-96-337T>A (n.-96-337T>A)
c.198T>A (p.Phe66Leu)
c.324T>A (p.Phe108Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378335T>CCA452719826TAB2n.835T>C
c.420T>C (p.Phe140=)
c.-96-337T>C (n.-96-337T>C)
c.198T>C (p.Phe66=)
c.324T>C (p.Phe108=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149378335T>GCA365994071TAB2n.835T>G
c.420T>G (p.Phe140Leu)
c.-96-337T>G (n.-96-337T>G)
c.198T>G (p.Phe66Leu)
c.324T>G (p.Phe108Leu)
6g.149378335T=CA1671915029TAB2n.835T=
c.420T= (p.Phe140=)
c.-96-337T= (n.-96-337T=)
c.198T= (p.Phe66=)
c.324T= (p.Phe108=)
6g.149378336G>ACA365994083TAB2n.836G>A
c.421G>A (p.Gly141Arg)
c.-96-336G>A (n.-96-336G>A)
c.199G>A (p.Gly67Arg)
c.325G>A (p.Gly109Arg)
6g.149378336G>CCA365994086TAB2n.836G>C
c.421G>C (p.Gly141Arg)
c.-96-336G>C (n.-96-336G>C)
c.199G>C (p.Gly67Arg)
c.325G>C (p.Gly109Arg)
6g.149378336G>TCA365994087TAB2n.836G>T
c.421G>T (p.Gly141Ter)
c.-96-336G>T (n.-96-336G>T)
c.199G>T (p.Gly67Ter)
c.325G>T (p.Gly109Ter)
6g.149378337G>ACA365994088TAB2n.837G>A
c.422G>A (p.Gly141Glu)
c.-96-335G>A (n.-96-335G>A)
c.200G>A (p.Gly67Glu)
c.326G>A (p.Gly109Glu)
6g.149378337G>CCA365994090TAB2n.837G>C
c.422G>C (p.Gly141Ala)
c.-96-335G>C (n.-96-335G>C)
c.200G>C (p.Gly67Ala)
c.326G>C (p.Gly109Ala)
6g.149378337G>TCA365994093TAB2n.837G>T
c.422G>T (p.Gly141Val)
c.-96-335G>T (n.-96-335G>T)
c.200G>T (p.Gly67Val)
c.326G>T (p.Gly109Val)
6g.149378338A=CA1671915032TAB2n.838A=
c.423A= (p.Gly141=)
c.-96-334A= (n.-96-334A=)
c.201A= (p.Gly67=)
c.327A= (p.Gly109=)
6g.149378338A>CCA452719827TAB2n.838A>C
c.423A>C (p.Gly141=)
c.-96-334A>C (n.-96-334A>C)
c.201A>C (p.Gly67=)
c.327A>C (p.Gly109=)
6g.149378338A>GCA452719828TAB2n.838A>G
c.423A>G (p.Gly141=)
c.-96-334A>G (n.-96-334A>G)
c.201A>G (p.Gly67=)
c.327A>G (p.Gly109=)
6g.149378338A>TCA149916039TAB2n.838A>T
c.423A>T (p.Gly141=)
c.-96-334A>T (n.-96-334A>T)
c.201A>T (p.Gly67=)
c.327A>T (p.Gly109=)
 dbSNP gnomAD v3 gnomAD v4
6g.149378339A>CCA365994097TAB2n.839A>C
c.424A>C (p.Met142Leu)
c.-96-333A>C (n.-96-333A>C)
c.202A>C (p.Met68Leu)
c.328A>C (p.Met110Leu)
6g.149378339A>GCA365994100TAB2n.839A>G
c.424A>G (p.Met142Val)
c.-96-333A>G (n.-96-333A>G)
c.202A>G (p.Met68Val)
c.328A>G (p.Met110Val)
6g.149378339A>TCA365994103TAB2n.839A>T
c.424A>T (p.Met142Leu)
c.-96-333A>T (n.-96-333A>T)
c.202A>T (p.Met68Leu)
c.328A>T (p.Met110Leu)
6g.149378340T>ACA365994107TAB2n.840T>A
c.425T>A (p.Met142Lys)
c.-96-332T>A (n.-96-332T>A)
c.203T>A (p.Met68Lys)
c.329T>A (p.Met110Lys)
6g.149378340T>CCA365994111TAB2n.840T>C
c.425T>C (p.Met142Thr)
c.-96-332T>C (n.-96-332T>C)
c.203T>C (p.Met68Thr)
c.329T>C (p.Met110Thr)
6g.149378340T>GCA365994114TAB2n.840T>G
c.425T>G (p.Met142Arg)
c.-96-332T>G (n.-96-332T>G)
c.203T>G (p.Met68Arg)
c.329T>G (p.Met110Arg)
6g.149378341G>ACA365994123TAB2n.841G>A
c.426G>A (p.Met142Ile)
c.-96-331G>A (n.-96-331G>A)
c.204G>A (p.Met68Ile)
c.330G>A (p.Met110Ile)
6g.149378341G>CCA365994120TAB2n.841G>C
c.426G>C (p.Met142Ile)
c.-96-331G>C (n.-96-331G>C)
c.204G>C (p.Met68Ile)
c.330G>C (p.Met110Ile)
6g.149378341G>TCA365994118TAB2n.841G>T
c.426G>T (p.Met142Ile)
c.-96-331G>T (n.-96-331G>T)
c.204G>T (p.Met68Ile)
c.330G>T (p.Met110Ile)

Number of alleles fetched