Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149378318C>ACA365993918TAB2n.818C>A
c.403C>A (p.Gln135Lys)
c.-96-354C>A (n.-96-354C>A)
c.181C>A (p.Gln61Lys)
c.307C>A (p.Gln103Lys)
6g.149378318C=CA1671915005TAB2n.818C=
c.403C= (p.Gln135=)
c.-96-354C= (n.-96-354C=)
c.181C= (p.Gln61=)
c.307C= (p.Gln103=)
6g.149378318C>GCA365993920TAB2n.818C>G
c.403C>G (p.Gln135Glu)
c.-96-354C>G (n.-96-354C>G)
c.181C>G (p.Gln61Glu)
c.307C>G (p.Gln103Glu)
6g.149378318C>TCA16042635TAB2n.818C>T
c.403C>T (p.Gln135Ter)
c.-96-354C>T (n.-96-354C>T)
c.181C>T (p.Gln61Ter)
c.307C>T (p.Gln103Ter)
ClinVar dbSNP
6g.149378319A=CA1671915009TAB2n.819A=
c.404A= (p.Gln135=)
c.-96-353A= (n.-96-353A=)
c.182A= (p.Gln61=)
c.308A= (p.Gln103=)
6g.149378319A>CCA365993934TAB2n.819A>C
c.404A>C (p.Gln135Pro)
c.-96-353A>C (n.-96-353A>C)
c.182A>C (p.Gln61Pro)
c.308A>C (p.Gln103Pro)
dbSNP gnomAD v2 gnomAD v4
6g.149378319A>GCA365993937TAB2n.819A>G
c.404A>G (p.Gln135Arg)
c.-96-353A>G (n.-96-353A>G)
c.182A>G (p.Gln61Arg)
c.308A>G (p.Gln103Arg)
dbSNP gnomAD v2 gnomAD v4
6g.149378319A>TCA365993943TAB2n.819A>T
c.404A>T (p.Gln135Leu)
c.-96-353A>T (n.-96-353A>T)
c.182A>T (p.Gln61Leu)
c.308A>T (p.Gln103Leu)
6g.149378320A>CCA365993944TAB2n.820A>C
c.405A>C (p.Gln135His)
c.-96-352A>C (n.-96-352A>C)
c.183A>C (p.Gln61His)
c.309A>C (p.Gln103His)
6g.149378320A>GCA452719816TAB2n.820A>G
c.405A>G (p.Gln135=)
c.-96-352A>G (n.-96-352A>G)
c.183A>G (p.Gln61=)
c.309A>G (p.Gln103=)
6g.149378320A>TCA365993946TAB2n.820A>T
c.405A>T (p.Gln135His)
c.-96-352A>T (n.-96-352A>T)
c.183A>T (p.Gln61His)
c.309A>T (p.Gln103His)
6g.149378321G>ACA365993950TAB2n.821G>A
c.406G>A (p.Gly136Ser)
c.-96-351G>A (n.-96-351G>A)
c.184G>A (p.Gly62Ser)
c.310G>A (p.Gly104Ser)
6g.149378321G>CCA365993951TAB2n.821G>C
c.406G>C (p.Gly136Arg)
c.-96-351G>C (n.-96-351G>C)
c.184G>C (p.Gly62Arg)
c.310G>C (p.Gly104Arg)
6g.149378321G>TCA365993952TAB2n.821G>T
c.406G>T (p.Gly136Cys)
c.-96-351G>T (n.-96-351G>T)
c.184G>T (p.Gly62Cys)
c.310G>T (p.Gly104Cys)
6g.149378322G>ACA365993962TAB2n.822G>A
c.407G>A (p.Gly136Asp)
c.-96-350G>A (n.-96-350G>A)
c.185G>A (p.Gly62Asp)
c.311G>A (p.Gly104Asp)
6g.149378322G>CCA365993959TAB2n.822G>C
c.407G>C (p.Gly136Ala)
c.-96-350G>C (n.-96-350G>C)
c.185G>C (p.Gly62Ala)
c.311G>C (p.Gly104Ala)
6g.149378322G>TCA365993955TAB2n.822G>T
c.407G>T (p.Gly136Val)
c.-96-350G>T (n.-96-350G>T)
c.185G>T (p.Gly62Val)
c.311G>T (p.Gly104Val)
6g.149378323C>ACA452719817TAB2n.823C>A
c.408C>A (p.Gly136=)
c.-96-349C>A (n.-96-349C>A)
c.186C>A (p.Gly62=)
c.312C>A (p.Gly104=)
6g.149378323C=CA1671915013TAB2n.823C=
c.408C= (p.Gly136=)
c.-96-349C= (n.-96-349C=)
c.186C= (p.Gly62=)
c.312C= (p.Gly104=)
6g.149378323C>GCA452719818TAB2n.823C>G
c.408C>G (p.Gly136=)
c.-96-349C>G (n.-96-349C>G)
c.186C>G (p.Gly62=)
c.312C>G (p.Gly104=)
dbSNP gnomAD v2 gnomAD v4
6g.149378323C>TCA452719819TAB2n.823C>T
c.408C>T (p.Gly136=)
c.-96-349C>T (n.-96-349C>T)
c.186C>T (p.Gly62=)
c.312C>T (p.Gly104=)
gnomAD v4
6g.149378324T>ACA365993970TAB2n.824T>A
c.409T>A (p.Phe137Ile)
c.-96-348T>A (n.-96-348T>A)
c.187T>A (p.Phe63Ile)
c.313T>A (p.Phe105Ile)
6g.149378324T>CCA365993975TAB2n.824T>C
c.409T>C (p.Phe137Leu)
c.-96-348T>C (n.-96-348T>C)
c.187T>C (p.Phe63Leu)
c.313T>C (p.Phe105Leu)
6g.149378324T>GCA365993977TAB2n.824T>G
c.409T>G (p.Phe137Val)
c.-96-348T>G (n.-96-348T>G)
c.187T>G (p.Phe63Val)
c.313T>G (p.Phe105Val)
dbSNP gnomAD v2 gnomAD v4
6g.149378324T=CA1671915015TAB2n.824T=
c.409T= (p.Phe137=)
c.-96-348T= (n.-96-348T=)
c.187T= (p.Phe63=)
c.313T= (p.Phe105=)
6g.149378325T>ACA365993982TAB2n.825T>A
c.410T>A (p.Phe137Tyr)
c.-96-347T>A (n.-96-347T>A)
c.188T>A (p.Phe63Tyr)
c.314T>A (p.Phe105Tyr)
6g.149378325T>CCA365993984TAB2n.825T>C
c.410T>C (p.Phe137Ser)
c.-96-347T>C (n.-96-347T>C)
c.188T>C (p.Phe63Ser)
c.314T>C (p.Phe105Ser)
6g.149378325T>GCA365993993TAB2n.825T>G
c.410T>G (p.Phe137Cys)
c.-96-347T>G (n.-96-347T>G)
c.188T>G (p.Phe63Cys)
c.314T>G (p.Phe105Cys)
6g.149378326T>ACA365993997TAB2n.826T>A
c.411T>A (p.Phe137Leu)
c.-96-346T>A (n.-96-346T>A)
c.189T>A (p.Phe63Leu)
c.315T>A (p.Phe105Leu)
6g.149378326T>CCA452719820TAB2n.826T>C
c.411T>C (p.Phe137=)
c.-96-346T>C (n.-96-346T>C)
c.189T>C (p.Phe63=)
c.315T>C (p.Phe105=)
gnomAD v4
6g.149378326T>GCA365994001TAB2n.826T>G
c.411T>G (p.Phe137Leu)
c.-96-346T>G (n.-96-346T>G)
c.189T>G (p.Phe63Leu)
c.315T>G (p.Phe105Leu)
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=)

Number of alleles fetched