Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43846239_43846269dupCA532703135ABCG8c.250_280dup (p.Lys94MetfsTer2)
n.707_737dup
c.262_292dup (p.Lys98MetfsTer2)
c.34_64dup (p.Lys22MetfsTer2)
n.752_782dup
n.766_796dup
 dbSNP gnomAD v2 gnomAD v4
2g.43846255A>CCA346663589ABCG8c.266A>C (p.Gln89Pro)
n.723A>C
c.278A>C (p.Gln93Pro)
c.50A>C (p.Gln17Pro)
n.768A>C
n.782A>C
2g.43846255A>GCA346663590ABCG8c.266A>G (p.Gln89Arg)
n.723A>G
c.278A>G (p.Gln93Arg)
c.50A>G (p.Gln17Arg)
n.768A>G
n.782A>G
 gnomAD v4
2g.43846255A>TCA346663591ABCG8c.266A>T (p.Gln89Leu)
n.723A>T
c.278A>T (p.Gln93Leu)
c.50A>T (p.Gln17Leu)
n.768A>T
n.782A>T
2g.43846256G>ACA425752487ABCG8c.267G>A (p.Gln89=)
n.724G>A
c.279G>A (p.Gln93=)
c.51G>A (p.Gln17=)
n.769G>A
n.783G>A
2g.43846256G>CCA346663592ABCG8c.267G>C (p.Gln89His)
n.724G>C
c.279G>C (p.Gln93His)
c.51G>C (p.Gln17His)
n.769G>C
n.783G>C
 gnomAD v4
2g.43846256G>TCA346663593ABCG8c.267G>T (p.Gln89His)
n.724G>T
c.279G>T (p.Gln93His)
c.51G>T (p.Gln17His)
n.769G>T
n.783G>T
2g.43846257A>CCA346663594ABCG8c.268A>C (p.Asn90His)
n.725A>C
c.280A>C (p.Asn94His)
c.52A>C (p.Asn18His)
n.770A>C
n.784A>C
2g.43846257A>GCA346663595ABCG8c.268A>G (p.Asn90Asp)
n.725A>G
c.280A>G (p.Asn94Asp)
c.52A>G (p.Asn18Asp)
n.770A>G
n.784A>G
2g.43846257A>TCA346663596ABCG8c.268A>T (p.Asn90Tyr)
n.725A>T
c.280A>T (p.Asn94Tyr)
c.52A>T (p.Asn18Tyr)
n.770A>T
n.784A>T
2g.43846258A>CCA346663597ABCG8c.269A>C (p.Asn90Thr)
n.726A>C
c.281A>C (p.Asn94Thr)
c.53A>C (p.Asn18Thr)
n.771A>C
n.785A>C
2g.43846258A>GCA346663598ABCG8c.269A>G (p.Asn90Ser)
n.726A>G
c.281A>G (p.Asn94Ser)
c.53A>G (p.Asn18Ser)
n.771A>G
n.785A>G
2g.43846258A>TCA346663599ABCG8c.269A>T (p.Asn90Ile)
n.726A>T
c.281A>T (p.Asn94Ile)
c.53A>T (p.Asn18Ile)
n.771A>T
n.785A>T
2g.43846259C>ACA346663601ABCG8c.270C>A (p.Asn90Lys)
n.727C>A
c.282C>A (p.Asn94Lys)
c.54C>A (p.Asn18Lys)
n.772C>A
n.786C>A
2g.43846259C=CA2493945147ABCG8c.270C= (p.Asn90=)
n.727C=
c.282C= (p.Asn94=)
c.54C= (p.Asn18=)
n.772C=
n.786C=
2g.43846259C>GCA346663600ABCG8c.270C>G (p.Asn90Lys)
n.727C>G
c.282C>G (p.Asn94Lys)
c.54C>G (p.Asn18Lys)
n.772C>G
n.786C>G
 dbSNP gnomAD v2 gnomAD v4
2g.43846259C>TCA1636952ABCG8c.270C>T (p.Asn90=)
n.727C>T
c.282C>T (p.Asn94=)
c.54C>T (p.Asn18=)
n.772C>T
n.786C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43846260C>ACA346663602ABCG8c.271C>A (p.Leu91Ile)
n.728C>A
c.283C>A (p.Leu95Ile)
c.55C>A (p.Leu19Ile)
n.773C>A
n.787C>A
2g.43846260C=CA2493945148ABCG8c.271C= (p.Leu91=)
n.728C=
c.283C= (p.Leu95=)
c.55C= (p.Leu19=)
n.773C=
n.787C=
2g.43846260C>GCA346663603ABCG8c.271C>G (p.Leu91Val)
n.728C>G
c.283C>G (p.Leu95Val)
c.55C>G (p.Leu19Val)
n.773C>G
n.787C>G
 gnomAD v4
2g.43846260C>TCA1636953ABCG8c.271C>T (p.Leu91=)
n.728C>T
c.283C>T (p.Leu95=)
c.55C>T (p.Leu19=)
n.773C>T
n.787C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43846261T>ACA346663604ABCG8c.272T>A (p.Leu91Gln)
n.729T>A
c.284T>A (p.Leu95Gln)
c.56T>A (p.Leu19Gln)
n.774T>A
n.788T>A
2g.43846261T>CCA346663605ABCG8c.272T>C (p.Leu91Pro)
n.729T>C
c.284T>C (p.Leu95Pro)
c.56T>C (p.Leu19Pro)
n.774T>C
n.788T>C
2g.43846261T>GCA346663606ABCG8c.272T>G (p.Leu91Arg)
n.729T>G
c.284T>G (p.Leu95Arg)
c.56T>G (p.Leu19Arg)
n.774T>G
n.788T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43846261T=CA2493945149ABCG8c.272T= (p.Leu91=)
n.729T=
c.284T= (p.Leu95=)
c.56T= (p.Leu19=)
n.774T=
n.788T=
2g.43846262A>CCA425752510ABCG8c.273A>C (p.Leu91=)
n.730A>C
c.285A>C (p.Leu95=)
c.57A>C (p.Leu19=)
n.775A>C
n.789A>C
2g.43846262A>GCA425752513ABCG8c.273A>G (p.Leu91=)
n.730A>G
c.285A>G (p.Leu95=)
c.57A>G (p.Leu19=)
n.775A>G
n.789A>G
2g.43846262A>TCA425752515ABCG8c.273A>T (p.Leu91=)
n.730A>T
c.285A>T (p.Leu95=)
c.57A>T (p.Leu19=)
n.775A>T
n.789A>T
2g.43846263A>CCA346663607ABCG8c.274A>C (p.Ser92Arg)
n.731A>C
c.286A>C (p.Ser96Arg)
c.58A>C (p.Ser20Arg)
n.776A>C
n.790A>C
2g.43846263A>GCA346663608ABCG8c.274A>G (p.Ser92Gly)
n.731A>G
c.286A>G (p.Ser96Gly)
c.58A>G (p.Ser20Gly)
n.776A>G
n.790A>G
2g.43846263A>TCA346663609ABCG8c.274A>T (p.Ser92Cys)
n.731A>T
c.286A>T (p.Ser96Cys)
c.58A>T (p.Ser20Cys)
n.776A>T
n.790A>T
 gnomAD v4
2g.43846264G>ACA1636954ABCG8c.275G>A (p.Ser92Asn)
n.732G>A
c.287G>A (p.Ser96Asn)
c.59G>A (p.Ser20Asn)
n.777G>A
n.791G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43846264G>CCA346663610ABCG8c.275G>C (p.Ser92Thr)
n.732G>C
c.287G>C (p.Ser96Thr)
c.59G>C (p.Ser20Thr)
n.777G>C
n.791G>C
2g.43846264G=CA2493945150ABCG8c.275G= (p.Ser92=)
n.732G=
c.287G= (p.Ser96=)
c.59G= (p.Ser20=)
n.777G=
n.791G=
2g.43846264G>TCA346663611ABCG8c.275G>T (p.Ser92Ile)
n.732G>T
c.287G>T (p.Ser96Ile)
c.59G>T (p.Ser20Ile)
n.777G>T
n.791G>T
2g.43846265C>ACA346663612ABCG8c.276C>A (p.Ser92Arg)
n.733C>A
c.288C>A (p.Ser96Arg)
c.60C>A (p.Ser20Arg)
n.778C>A
n.792C>A
2g.43846265C=CA2493945151ABCG8c.276C= (p.Ser92=)
n.733C=
c.288C= (p.Ser96=)
c.60C= (p.Ser20=)
n.778C=
n.792C=
2g.43846265C>GCA1636955ABCG8c.276C>G (p.Ser92Arg)
n.733C>G
c.288C>G (p.Ser96Arg)
c.60C>G (p.Ser20Arg)
n.778C>G
n.792C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43846265C>TCA425752519ABCG8c.276C>T (p.Ser92=)
n.733C>T
c.288C>T (p.Ser96=)
c.60C>T (p.Ser20=)
n.778C>T
n.792C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43846266T>ACA346663613ABCG8c.277T>A (p.Phe93Ile)
n.734T>A
c.289T>A (p.Phe97Ile)
c.61T>A (p.Phe21Ile)
n.779T>A
n.793T>A
2g.43846266T>CCA346663615ABCG8c.277T>C (p.Phe93Leu)
n.734T>C
c.289T>C (p.Phe97Leu)
c.61T>C (p.Phe21Leu)
n.779T>C
n.793T>C
2g.43846266T>GCA346663614ABCG8c.277T>G (p.Phe93Val)
n.734T>G
c.289T>G (p.Phe97Val)
c.61T>G (p.Phe21Val)
n.779T>G
n.793T>G
2g.43846267T>ACA346663616ABCG8c.278T>A (p.Phe93Tyr)
n.735T>A
c.290T>A (p.Phe97Tyr)
c.62T>A (p.Phe21Tyr)
n.780T>A
n.794T>A
2g.43846267T>CCA346663617ABCG8c.278T>C (p.Phe93Ser)
n.735T>C
c.290T>C (p.Phe97Ser)
c.62T>C (p.Phe21Ser)
n.780T>C
n.794T>C
2g.43846267T>GCA346663618ABCG8c.278T>G (p.Phe93Cys)
n.735T>G
c.290T>G (p.Phe97Cys)
c.62T>G (p.Phe21Cys)
n.780T>G
n.794T>G
2g.43846268C>ACA346663619ABCG8c.279C>A (p.Phe93Leu)
n.736C>A
c.291C>A (p.Phe97Leu)
c.63C>A (p.Phe21Leu)
n.781C>A
n.795C>A
2g.43846268C=CA2493945152ABCG8c.279C= (p.Phe93=)
n.736C=
c.291C= (p.Phe97=)
c.63C= (p.Phe21=)
n.781C=
n.795C=
2g.43846268C>GCA346663620ABCG8c.279C>G (p.Phe93Leu)
n.736C>G
c.291C>G (p.Phe97Leu)
c.63C>G (p.Phe21Leu)
n.781C>G
n.795C>G
2g.43846268C>TCA1636956ABCG8c.279C>T (p.Phe93=)
n.736C>T
c.291C>T (p.Phe97=)
c.63C>T (p.Phe21=)
n.781C>T
n.795C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43846269A>CCA346663621ABCG8c.280A>C (p.Lys94Gln)
n.737A>C
c.292A>C (p.Lys98Gln)
c.64A>C (p.Lys22Gln)
n.782A>C
n.796A>C

Number of alleles fetched