Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5253294A>CCA379263489HBG2c.427T>G (p.Ser143Ala)
c.262T>G (p.Ser88Ala)
c.315+998T>G (n.315+998T>G)
c.378+49T>G (n.378+49T>G)
c.397T>G (p.Ser133Ala)
11g.5253294A>GCA379263490HBG2c.427T>C (p.Ser143Pro)
c.262T>C (p.Ser88Pro)
c.315+998T>C (n.315+998T>C)
c.378+49T>C (n.378+49T>C)
c.397T>C (p.Ser133Pro)
11g.5253294A>TCA379263491HBG2c.427T>A (p.Ser143Thr)
c.262T>A (p.Ser88Thr)
c.315+998T>A (n.315+998T>A)
c.378+49T>A (n.378+49T>A)
c.397T>A (p.Ser133Thr)
11g.5253295C>ACA472633096HBG2c.426G>T (p.Leu142=)
c.261G>T (p.Leu87=)
c.315+997G>T (n.315+997G>T)
c.378+48G>T (n.378+48G>T)
c.396G>T (p.Leu132=)
11g.5253295C>GCA472633097HBG2c.426G>C (p.Leu142=)
c.261G>C (p.Leu87=)
c.315+997G>C (n.315+997G>C)
c.378+48G>C (n.378+48G>C)
c.396G>C (p.Leu132=)
11g.5253295C>TCA472633098HBG2c.426G>A (p.Leu142=)
c.261G>A (p.Leu87=)
c.315+997G>A (n.315+997G>A)
c.378+48G>A (n.378+48G>A)
c.396G>A (p.Leu132=)
11g.5253296A>CCA379263493HBG2c.425T>G (p.Leu142Arg)
c.260T>G (p.Leu87Arg)
c.315+996T>G (n.315+996T>G)
c.378+47T>G (n.378+47T>G)
c.395T>G (p.Leu132Arg)
11g.5253296A>GCA379263494HBG2c.425T>C (p.Leu142Pro)
c.260T>C (p.Leu87Pro)
c.315+996T>C (n.315+996T>C)
c.378+47T>C (n.378+47T>C)
c.395T>C (p.Leu132Pro)
11g.5253296A>TCA379263492HBG2c.425T>A (p.Leu142Gln)
c.260T>A (p.Leu87Gln)
c.315+996T>A (n.315+996T>A)
c.378+47T>A (n.378+47T>A)
c.395T>A (p.Leu132Gln)
11g.5253297G>ACA472633099HBG2c.424C>T (p.Leu142=)
c.259C>T (p.Leu87=)
c.315+995C>T (n.315+995C>T)
c.378+46C>T (n.378+46C>T)
c.394C>T (p.Leu132=)
11g.5253297G>CCA379263495HBG2c.424C>G (p.Leu142Val)
c.259C>G (p.Leu87Val)
c.315+995C>G (n.315+995C>G)
c.378+46C>G (n.378+46C>G)
c.394C>G (p.Leu132Val)
11g.5253297G>TCA379263496HBG2c.424C>A (p.Leu142Met)
c.259C>A (p.Leu87Met)
c.315+995C>A (n.315+995C>A)
c.378+46C>A (n.378+46C>A)
c.394C>A (p.Leu132Met)
11g.5253298G>ACA472633101HBG2c.423C>T (p.Ala141=)
c.258C>T (p.Ala86=)
c.315+994C>T (n.315+994C>T)
c.378+45C>T (n.378+45C>T)
c.393C>T (p.Ala131=)
11g.5253298G>CCA472633102HBG2c.423C>G (p.Ala141=)
c.258C>G (p.Ala86=)
c.315+994C>G (n.315+994C>G)
c.378+45C>G (n.378+45C>G)
c.393C>G (p.Ala131=)
11g.5253298G>TCA472633100HBG2c.423C>A (p.Ala141=)
c.258C>A (p.Ala86=)
c.315+994C>A (n.315+994C>A)
c.378+45C>A (n.378+45C>A)
c.393C>A (p.Ala131=)
11g.5253299G>ACA379263498HBG2c.422C>T (p.Ala141Val)
c.257C>T (p.Ala86Val)
c.315+993C>T (n.315+993C>T)
c.378+44C>T (n.378+44C>T)
c.392C>T (p.Ala131Val)
 dbSNP
11g.5253299G>CCA379263499HBG2c.422C>G (p.Ala141Gly)
c.257C>G (p.Ala86Gly)
c.315+993C>G (n.315+993C>G)
c.378+44C>G (n.378+44C>G)
c.392C>G (p.Ala131Gly)
 dbSNP
11g.5253299G=CA1949575356HBG2c.422C= (p.Ala141=)
c.257C= (p.Ala86=)
c.315+993C= (n.315+993C=)
c.378+44C= (n.378+44C=)
c.392C= (p.Ala131=)
11g.5253299G>TCA5840200HBG2c.422C>A (p.Ala141Asp)
c.257C>A (p.Ala86Asp)
c.315+993C>A (n.315+993C>A)
c.378+44C>A (n.378+44C>A)
c.392C>A (p.Ala131Asp)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.5253300C>ACA379263500HBG2c.421G>T (p.Ala141Ser)
c.256G>T (p.Ala86Ser)
c.315+992G>T (n.315+992G>T)
c.378+43G>T (n.378+43G>T)
c.391G>T (p.Ala131Ser)
11g.5253300C>GCA379263501HBG2c.421G>C (p.Ala141Pro)
c.256G>C (p.Ala86Pro)
c.315+992G>C (n.315+992G>C)
c.378+43G>C (n.378+43G>C)
c.391G>C (p.Ala131Pro)
11g.5253300C>TCA379263502HBG2c.421G>A (p.Ala141Thr)
c.256G>A (p.Ala86Thr)
c.315+992G>A (n.315+992G>A)
c.378+43G>A (n.378+43G>A)
c.391G>A (p.Ala131Thr)
 COSMIC
11g.5253301A=CA1949575363HBG2c.420T= (p.Ser140=)
c.255T= (p.Ser85=)
c.315+991T= (n.315+991T=)
c.378+42T= (n.378+42T=)
c.390T= (p.Ser130=)
11g.5253301A>CCA379263503HBG2c.420T>G (p.Ser140Arg)
c.255T>G (p.Ser85Arg)
c.315+991T>G (n.315+991T>G)
c.378+42T>G (n.378+42T>G)
c.390T>G (p.Ser130Arg)
11g.5253301A>GCA472633103HBG2c.420T>C (p.Ser140=)
c.255T>C (p.Ser85=)
c.315+991T>C (n.315+991T>C)
c.378+42T>C (n.378+42T>C)
c.390T>C (p.Ser130=)
 dbSNP
11g.5253301A>TCA379263504HBG2c.420T>A (p.Ser140Arg)
c.255T>A (p.Ser85Arg)
c.315+991T>A (n.315+991T>A)
c.378+42T>A (n.378+42T>A)
c.390T>A (p.Ser130Arg)
11g.5253302C>ACA379263505HBG2c.419G>T (p.Ser140Ile)
c.254G>T (p.Ser85Ile)
c.315+990G>T (n.315+990G>T)
c.378+41G>T (n.378+41G>T)
c.389G>T (p.Ser130Ile)
11g.5253302C=CA1949575369HBG2c.419G= (p.Ser140=)
c.254G= (p.Ser85=)
c.315+990G= (n.315+990G=)
c.378+41G= (n.378+41G=)
c.389G= (p.Ser130=)
11g.5253302C>GCA379263506HBG2c.419G>C (p.Ser140Thr)
c.254G>C (p.Ser85Thr)
c.315+990G>C (n.315+990G>C)
c.378+41G>C (n.378+41G>C)
c.389G>C (p.Ser130Thr)
11g.5253302C>TCA379263507HBG2c.419G>A (p.Ser140Asn)
c.254G>A (p.Ser85Asn)
c.315+990G>A (n.315+990G>A)
c.378+41G>A (n.378+41G>A)
c.389G>A (p.Ser130Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.5253303T>ACA379263510HBG2c.418A>T (p.Ser140Cys)
c.253A>T (p.Ser85Cys)
c.315+989A>T (n.315+989A>T)
c.378+40A>T (n.378+40A>T)
c.388A>T (p.Ser130Cys)
11g.5253303T>CCA379263509HBG2c.418A>G (p.Ser140Gly)
c.253A>G (p.Ser85Gly)
c.315+989A>G (n.315+989A>G)
c.378+40A>G (n.378+40A>G)
c.388A>G (p.Ser130Gly)
 dbSNP gnomAD v4
11g.5253303T>GCA379263508HBG2c.418A>C (p.Ser140Arg)
c.253A>C (p.Ser85Arg)
c.315+989A>C (n.315+989A>C)
c.378+40A>C (n.378+40A>C)
c.388A>C (p.Ser130Arg)
11g.5253303T=CA1949575371HBG2c.418A= (p.Ser140=)
c.253A= (p.Ser85=)
c.315+989A= (n.315+989A=)
c.378+40A= (n.378+40A=)
c.388A= (p.Ser130=)
11g.5253304G>ACA472633104HBG2c.417C>T (p.Ala139=)
c.252C>T (p.Ala84=)
c.315+988C>T (n.315+988C>T)
c.378+39C>T (n.378+39C>T)
c.387C>T (p.Ala129=)
11g.5253304G>CCA472633106HBG2c.417C>G (p.Ala139=)
c.252C>G (p.Ala84=)
c.315+988C>G (n.315+988C>G)
c.378+39C>G (n.378+39C>G)
c.387C>G (p.Ala129=)
11g.5253304G>TCA472633105HBG2c.417C>A (p.Ala139=)
c.252C>A (p.Ala84=)
c.315+988C>A (n.315+988C>A)
c.378+39C>A (n.378+39C>A)
c.387C>A (p.Ala129=)
 dbSNP
11g.5253305G>ACA379263511HBG2c.416C>T (p.Ala139Val)
c.251C>T (p.Ala84Val)
c.315+987C>T (n.315+987C>T)
c.378+38C>T (n.378+38C>T)
c.386C>T (p.Ala129Val)
 gnomAD v4
11g.5253305G>CCA379263512HBG2c.416C>G (p.Ala139Gly)
c.251C>G (p.Ala84Gly)
c.315+987C>G (n.315+987C>G)
c.378+38C>G (n.378+38C>G)
c.386C>G (p.Ala129Gly)
11g.5253305G>TCA379263513HBG2c.416C>A (p.Ala139Asp)
c.251C>A (p.Ala84Asp)
c.315+987C>A (n.315+987C>A)
c.378+38C>A (n.378+38C>A)
c.386C>A (p.Ala129Asp)
11g.5253306C>ACA379263514HBG2c.415G>T (p.Ala139Ser)
c.250G>T (p.Ala84Ser)
c.315+986G>T (n.315+986G>T)
c.378+37G>T (n.378+37G>T)
c.385G>T (p.Ala129Ser)
11g.5253306C>GCA379263515HBG2c.415G>C (p.Ala139Pro)
c.250G>C (p.Ala84Pro)
c.315+986G>C (n.315+986G>C)
c.378+37G>C (n.378+37G>C)
c.385G>C (p.Ala129Pro)
11g.5253306C>TCA379263516HBG2c.415G>A (p.Ala139Thr)
c.250G>A (p.Ala84Thr)
c.315+986G>A (n.315+986G>A)
c.378+37G>A (n.378+37G>A)
c.385G>A (p.Ala129Thr)
11g.5253307C>ACA472633107HBG2c.414G>T (p.Val138=)
c.249G>T (p.Val83=)
c.315+985G>T (n.315+985G>T)
c.378+36G>T (n.378+36G>T)
c.384G>T (p.Val128=)
11g.5253307C=CA1949575373HBG2c.414G= (p.Val138=)
c.249G= (p.Val83=)
c.315+985G= (n.315+985G=)
c.378+36G= (n.378+36G=)
c.384G= (p.Val128=)
11g.5253307C>GCA472633108HBG2c.414G>C (p.Val138=)
c.249G>C (p.Val83=)
c.315+985G>C (n.315+985G>C)
c.378+36G>C (n.378+36G>C)
c.384G>C (p.Val128=)
11g.5253307C>TCA472633109HBG2c.414G>A (p.Val138=)
c.249G>A (p.Val83=)
c.315+985G>A (n.315+985G>A)
c.378+36G>A (n.378+36G>A)
c.384G>A (p.Val128=)
 dbSNP gnomAD v3 gnomAD v4
11g.5253308A>CCA379263517HBG2c.413T>G (p.Val138Gly)
c.248T>G (p.Val83Gly)
c.315+984T>G (n.315+984T>G)
c.378+35T>G (n.378+35T>G)
c.383T>G (p.Val128Gly)
11g.5253308A>GCA379263518HBG2c.413T>C (p.Val138Ala)
c.248T>C (p.Val83Ala)
c.315+984T>C (n.315+984T>C)
c.378+35T>C (n.378+35T>C)
c.383T>C (p.Val128Ala)
11g.5253308A>TCA379263519HBG2c.413T>A (p.Val138Glu)
c.248T>A (p.Val83Glu)
c.315+984T>A (n.315+984T>A)
c.378+35T>A (n.378+35T>A)
c.383T>A (p.Val128Glu)

Number of alleles fetched