Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43846237C>ACA346663554ABCG8c.248C>A (p.Ser83Tyr)
n.705C>A
c.260C>A (p.Ser87Tyr)
c.32C>A (p.Ser11Tyr)
n.750C>A
n.764C>A
2g.43846237C=CA2493945139ABCG8c.248C= (p.Ser83=)
n.705C=
c.260C= (p.Ser87=)
c.32C= (p.Ser11=)
n.750C=
n.764C=
2g.43846237C>GCA346663555ABCG8c.248C>G (p.Ser83Cys)
n.705C>G
c.260C>G (p.Ser87Cys)
c.32C>G (p.Ser11Cys)
n.750C>G
n.764C>G
2g.43846237C>TCA1636947ABCG8c.248C>T (p.Ser83Phe)
n.705C>T
c.260C>T (p.Ser87Phe)
c.32C>T (p.Ser11Phe)
n.750C>T
n.764C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43846238T>ACA425752412ABCG8c.249T>A (p.Ser83=)
n.706T>A
c.261T>A (p.Ser87=)
c.33T>A (p.Ser11=)
n.751T>A
n.765T>A
2g.43846238T>CCA425752414ABCG8c.249T>C (p.Ser83=)
n.706T>C
c.261T>C (p.Ser87=)
c.33T>C (p.Ser11=)
n.751T>C
n.765T>C
2g.43846238T>GCA425752410ABCG8c.249T>G (p.Ser83=)
n.706T>G
c.261T>G (p.Ser87=)
c.33T>G (p.Ser11=)
n.751T>G
n.765T>G
2g.43846238T=CA2493945140ABCG8c.249T= (p.Ser83=)
n.706T=
c.261T= (p.Ser87=)
c.33T= (p.Ser11=)
n.751T=
n.765T=
2g.43846239T>ACA346663558ABCG8c.250T>A (p.Cys84Ser)
n.707T>A
c.262T>A (p.Cys88Ser)
c.34T>A (p.Cys12Ser)
n.752T>A
n.766T>A
2g.43846239T>CCA346663557ABCG8c.250T>C (p.Cys84Arg)
n.707T>C
c.262T>C (p.Cys88Arg)
c.34T>C (p.Cys12Arg)
n.752T>C
n.766T>C
2g.43846239T>GCA346663556ABCG8c.250T>G (p.Cys84Gly)
n.707T>G
c.262T>G (p.Cys88Gly)
c.34T>G (p.Cys12Gly)
n.752T>G
n.766T>G
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.43846240G>ACA346663559ABCG8c.251G>A (p.Cys84Tyr)
n.708G>A
c.263G>A (p.Cys88Tyr)
c.35G>A (p.Cys12Tyr)
n.753G>A
n.767G>A
 gnomAD v4
2g.43846240G>CCA346663561ABCG8c.251G>C (p.Cys84Ser)
n.708G>C
c.263G>C (p.Cys88Ser)
c.35G>C (p.Cys12Ser)
n.753G>C
n.767G>C
2g.43846240G>TCA346663560ABCG8c.251G>T (p.Cys84Phe)
n.708G>T
c.263G>T (p.Cys88Phe)
c.35G>T (p.Cys12Phe)
n.753G>T
n.767G>T
2g.43846241T>ACA346663562ABCG8c.252T>A (p.Cys84Ter)
n.709T>A
c.264T>A (p.Cys88Ter)
c.36T>A (p.Cys12Ter)
n.754T>A
n.768T>A
2g.43846241T>CCA425752424ABCG8c.252T>C (p.Cys84=)
n.709T>C
c.264T>C (p.Cys88=)
c.36T>C (p.Cys12=)
n.754T>C
n.768T>C
2g.43846241T>GCA346663563ABCG8c.252T>G (p.Cys84Trp)
n.709T>G
c.264T>G (p.Cys88Trp)
c.36T>G (p.Cys12Trp)
n.754T>G
n.768T>G
2g.43846242G>ACA346663564ABCG8c.253G>A (p.Glu85Lys)
n.710G>A
c.265G>A (p.Glu89Lys)
c.37G>A (p.Glu13Lys)
n.755G>A
n.769G>A
 dbSNP gnomAD v3 gnomAD v4
2g.43846242G>CCA346663565ABCG8c.253G>C (p.Glu85Gln)
n.710G>C
c.265G>C (p.Glu89Gln)
c.37G>C (p.Glu13Gln)
n.755G>C
n.769G>C
2g.43846242G=CA2493945141ABCG8c.253G= (p.Glu85=)
n.710G=
c.265G= (p.Glu89=)
c.37G= (p.Glu13=)
n.755G=
n.769G=
2g.43846242G>TCA346663566ABCG8c.253G>T (p.Glu85Ter)
n.710G>T
c.265G>T (p.Glu89Ter)
c.37G>T (p.Glu13Ter)
n.755G>T
n.769G>T
2g.43846243A>CCA346663567ABCG8c.254A>C (p.Glu85Ala)
n.711A>C
c.266A>C (p.Glu89Ala)
c.38A>C (p.Glu13Ala)
n.756A>C
n.770A>C
2g.43846243A>GCA346663568ABCG8c.254A>G (p.Glu85Gly)
n.711A>G
c.266A>G (p.Glu89Gly)
c.38A>G (p.Glu13Gly)
n.756A>G
n.770A>G
2g.43846243A>TCA346663569ABCG8c.254A>T (p.Glu85Val)
n.711A>T
c.266A>T (p.Glu89Val)
c.38A>T (p.Glu13Val)
n.756A>T
n.770A>T
2g.43846244G>ACA1636949ABCG8c.255G>A (p.Glu85=)
n.712G>A
c.267G>A (p.Glu89=)
c.39G>A (p.Glu13=)
n.757G>A
n.771G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43846244G>CCA346663570ABCG8c.255G>C (p.Glu85Asp)
n.712G>C
c.267G>C (p.Glu89Asp)
c.39G>C (p.Glu13Asp)
n.757G>C
n.771G>C
2g.43846244G=CA2493945142ABCG8c.255G= (p.Glu85=)
n.712G=
c.267G= (p.Glu89=)
c.39G= (p.Glu13=)
n.757G=
n.771G=
2g.43846244G>TCA1636948ABCG8c.255G>T (p.Glu85Asp)
n.712G>T
c.267G>T (p.Glu89Asp)
c.39G>T (p.Glu13Asp)
n.757G>T
n.771G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43846245C>ACA346663571ABCG8c.256C>A (p.Leu86Met)
n.713C>A
c.268C>A (p.Leu90Met)
c.40C>A (p.Leu14Met)
n.758C>A
n.772C>A
2g.43846245C=CA2493945143ABCG8c.256C= (p.Leu86=)
n.713C=
c.268C= (p.Leu90=)
c.40C= (p.Leu14=)
n.758C=
n.772C=
2g.43846245C>GCA346663572ABCG8c.256C>G (p.Leu86Val)
n.713C>G
c.268C>G (p.Leu90Val)
c.40C>G (p.Leu14Val)
n.758C>G
n.772C>G
2g.43846245C>TCA425752444ABCG8c.256C>T (p.Leu86=)
n.713C>T
c.268C>T (p.Leu90=)
c.40C>T (p.Leu14=)
n.758C>T
n.772C>T
 dbSNP gnomAD v4
2g.43846245dupCA2586969105ABCG8c.256dup (p.Leu86ProfsTer?)
n.713dup
c.268dup (p.Leu90ProfsTer?)
c.40dup (p.Leu14ProfsTer?)
n.758dup
n.772dup
2g.43846246T>ACA346663575ABCG8c.257T>A (p.Leu86Gln)
n.714T>A
c.269T>A (p.Leu90Gln)
c.41T>A (p.Leu14Gln)
n.759T>A
n.773T>A
2g.43846246T>CCA346663574ABCG8c.257T>C (p.Leu86Pro)
n.714T>C
c.269T>C (p.Leu90Pro)
c.41T>C (p.Leu14Pro)
n.759T>C
n.773T>C
 gnomAD v4
2g.43846246T>GCA346663573ABCG8c.257T>G (p.Leu86Arg)
n.714T>G
c.269T>G (p.Leu90Arg)
c.41T>G (p.Leu14Arg)
n.759T>G
n.773T>G
2g.43846246_43846247insCCA913184836ABCG8c.257_258insC (p.Ile88HisfsTer?)
n.714_715insC
c.269_270insC (p.Ile92HisfsTer?)
c.41_42insC (p.Ile16HisfsTer?)
n.759_760insC
n.773_774insC
2g.43846247G>ACA425752448ABCG8c.258G>A (p.Leu86=)
n.715G>A
c.270G>A (p.Leu90=)
c.42G>A (p.Leu14=)
n.760G>A
n.774G>A
 dbSNP gnomAD v2 gnomAD v4
2g.43846247G>CCA425752450ABCG8c.258G>C (p.Leu86=)
n.715G>C
c.270G>C (p.Leu90=)
c.42G>C (p.Leu14=)
n.760G>C
n.774G>C
2g.43846247G=CA2493945144ABCG8c.258G= (p.Leu86=)
n.715G=
c.270G= (p.Leu90=)
c.42G= (p.Leu14=)
n.760G=
n.774G=
2g.43846247G>TCA425752452ABCG8c.258G>T (p.Leu86=)
n.715G>T
c.270G>T (p.Leu90=)
c.42G>T (p.Leu14=)
n.760G>T
n.774G>T
 gnomAD v4
2g.43846248G>ACA346663576ABCG8c.259G>A (p.Gly87Ser)
n.716G>A
c.271G>A (p.Gly91Ser)
c.43G>A (p.Gly15Ser)
n.761G>A
n.775G>A
2g.43846248G>CCA346663577ABCG8c.259G>C (p.Gly87Arg)
n.716G>C
c.271G>C (p.Gly91Arg)
c.43G>C (p.Gly15Arg)
n.761G>C
n.775G>C
2g.43846248G>TCA346663578ABCG8c.259G>T (p.Gly87Cys)
n.716G>T
c.271G>T (p.Gly91Cys)
c.43G>T (p.Gly15Cys)
n.761G>T
n.775G>T
2g.43846249G>ACA346663579ABCG8c.260G>A (p.Gly87Asp)
n.717G>A
c.272G>A (p.Gly91Asp)
c.44G>A (p.Gly15Asp)
n.762G>A
n.776G>A
 COSMIC
2g.43846249G>CCA346663580ABCG8c.260G>C (p.Gly87Ala)
n.717G>C
c.272G>C (p.Gly91Ala)
c.44G>C (p.Gly15Ala)
n.762G>C
n.776G>C
2g.43846249G>TCA346663581ABCG8c.260G>T (p.Gly87Val)
n.717G>T
c.272G>T (p.Gly91Val)
c.44G>T (p.Gly15Val)
n.762G>T
n.776G>T
2g.43846250C>ACA425752459ABCG8c.261C>A (p.Gly87=)
n.718C>A
c.273C>A (p.Gly91=)
c.45C>A (p.Gly15=)
n.763C>A
n.777C>A
2g.43846250C>GCA425752461ABCG8c.261C>G (p.Gly87=)
n.718C>G
c.273C>G (p.Gly91=)
c.45C>G (p.Gly15=)
n.763C>G
n.777C>G

Number of alleles fetched