Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23358362delCA2580086878SACSc.579del (p.Phe194LeufsTer7)
n.717del
c.570del (p.Phe191LeufsTer7)
n.2936del
c.-1672del (n.-1672del)
c.277del
c.138del (p.Phe47LeufsTer7)
c.603del (p.Phe202LeufsTer7)
 ClinVar
13g.23358362C>ACA387551925SACSc.577G>T (p.Gly193Trp)
n.715G>T
c.568G>T (p.Gly190Trp)
n.2934G>T
c.-1674G>T (n.-1674G>T)
c.275G>T
c.136G>T (p.Gly46Trp)
c.601G>T (p.Gly201Trp)
13g.23358362C>GCA387551926SACSc.577G>C (p.Gly193Arg)
n.715G>C
c.568G>C (p.Gly190Arg)
n.2934G>C
c.-1674G>C (n.-1674G>C)
c.275G>C
c.136G>C (p.Gly46Arg)
c.601G>C (p.Gly201Arg)
13g.23358362C>TCA387551927SACSc.577G>A (p.Gly193Arg)
n.715G>A
c.568G>A (p.Gly190Arg)
n.2934G>A
c.-1674G>A (n.-1674G>A)
c.275G>A
c.136G>A (p.Gly46Arg)
c.601G>A (p.Gly201Arg)
13g.23358363A=CA2078636420SACSc.576T= (p.Ile192=)
n.714T=
c.567T= (p.Ile189=)
n.2933T=
c.-1675T= (n.-1675T=)
c.274T=
c.135T= (p.Ile45=)
c.600T= (p.Ile200=)
13g.23358363A>CCA387551928SACSc.576T>G (p.Ile192Met)
n.714T>G
c.567T>G (p.Ile189Met)
n.2933T>G
c.-1675T>G (n.-1675T>G)
c.274T>G
c.135T>G (p.Ile45Met)
c.600T>G (p.Ile200Met)
13g.23358363A>GCA482921987SACSc.576T>C (p.Ile192=)
n.714T>C
c.567T>C (p.Ile189=)
n.2933T>C
c.-1675T>C (n.-1675T>C)
c.274T>C
c.135T>C (p.Ile45=)
c.600T>C (p.Ile200=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.23358363A>TCA482921989SACSc.576T>A (p.Ile192=)
n.714T>A
c.567T>A (p.Ile189=)
n.2933T>A
c.-1675T>A (n.-1675T>A)
c.274T>A
c.135T>A (p.Ile45=)
c.600T>A (p.Ile200=)
13g.23358364A>CCA387551931SACSc.575T>G (p.Ile192Ser)
n.713T>G
c.566T>G (p.Ile189Ser)
n.2932T>G
c.-1676T>G (n.-1676T>G)
c.273T>G
c.134T>G (p.Ile45Ser)
c.599T>G (p.Ile200Ser)
13g.23358364A>GCA387551930SACSc.575T>C (p.Ile192Thr)
n.713T>C
c.566T>C (p.Ile189Thr)
n.2932T>C
c.-1676T>C (n.-1676T>C)
c.273T>C
c.134T>C (p.Ile45Thr)
c.599T>C (p.Ile200Thr)
13g.23358364A>TCA387551929SACSc.575T>A (p.Ile192Asn)
n.713T>A
c.566T>A (p.Ile189Asn)
n.2932T>A
c.-1676T>A (n.-1676T>A)
c.273T>A
c.134T>A (p.Ile45Asn)
c.599T>A (p.Ile200Asn)
13g.23358365T>ACA387551932SACSc.574A>T (p.Ile192Phe)
n.712A>T
c.565A>T (p.Ile189Phe)
n.2931A>T
c.-1677A>T (n.-1677A>T)
c.272A>T
c.133A>T (p.Ile45Phe)
c.598A>T (p.Ile200Phe)
13g.23358365T>CCA387551934SACSc.574A>G (p.Ile192Val)
n.712A>G
c.565A>G (p.Ile189Val)
n.2931A>G
c.-1677A>G (n.-1677A>G)
c.272A>G
c.133A>G (p.Ile45Val)
c.598A>G (p.Ile200Val)
13g.23358365T>GCA387551933SACSc.574A>C (p.Ile192Leu)
n.712A>C
c.565A>C (p.Ile189Leu)
n.2931A>C
c.-1677A>C (n.-1677A>C)
c.272A>C
c.133A>C (p.Ile45Leu)
c.598A>C (p.Ile200Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.23358365T=CA2078636424SACSc.574A= (p.Ile192=)
n.712A=
c.565A= (p.Ile189=)
n.2931A=
c.-1677A= (n.-1677A=)
c.272A=
c.133A= (p.Ile45=)
c.598A= (p.Ile200=)
13g.23358366T>ACA482921997SACSc.573A>T (p.Gly191=)
n.711A>T
c.564A>T (p.Gly188=)
n.2930A>T
c.-1678A>T (n.-1678A>T)
c.271A>T
c.132A>T (p.Gly44=)
c.597A>T (p.Gly199=)
13g.23358366T>CCA6912056SACSc.573A>G (p.Gly191=)
n.711A>G
c.564A>G (p.Gly188=)
n.2930A>G
c.-1678A>G (n.-1678A>G)
c.271A>G
c.132A>G (p.Gly44=)
c.597A>G (p.Gly199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358366T>GCA482921999SACSc.573A>C (p.Gly191=)
n.711A>C
c.564A>C (p.Gly188=)
n.2930A>C
c.-1678A>C (n.-1678A>C)
c.271A>C
c.132A>C (p.Gly44=)
c.597A>C (p.Gly199=)
 ClinVar gnomAD v4
13g.23358366T=CA2078636426SACSc.573A= (p.Gly191=)
n.711A=
c.564A= (p.Gly188=)
n.2930A=
c.-1678A= (n.-1678A=)
c.271A=
c.132A= (p.Gly44=)
c.597A= (p.Gly199=)
13g.23358367C>ACA387551935SACSc.572G>T (p.Gly191Val)
n.710G>T
c.563G>T (p.Gly188Val)
n.2929G>T
c.-1679G>T (n.-1679G>T)
c.270G>T
c.131G>T (p.Gly44Val)
c.596G>T (p.Gly199Val)
13g.23358367C=CA2078636430SACSc.572G= (p.Gly191=)
n.710G=
c.563G= (p.Gly188=)
n.2929G=
c.-1679G= (n.-1679G=)
c.270G=
c.131G= (p.Gly44=)
c.596G= (p.Gly199=)
13g.23358367C>GCA387551936SACSc.572G>C (p.Gly191Ala)
n.710G>C
c.563G>C (p.Gly188Ala)
n.2929G>C
c.-1679G>C (n.-1679G>C)
c.270G>C
c.131G>C (p.Gly44Ala)
c.596G>C (p.Gly199Ala)
13g.23358367C>TCA387551937SACSc.572G>A (p.Gly191Glu)
n.710G>A
c.563G>A (p.Gly188Glu)
n.2929G>A
c.-1679G>A (n.-1679G>A)
c.270G>A
c.131G>A (p.Gly44Glu)
c.596G>A (p.Gly199Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.23358368C>ACA387551938SACSc.571G>T (p.Gly191Ter)
n.709G>T
c.562G>T (p.Gly188Ter)
n.2928G>T
c.-1680G>T (n.-1680G>T)
c.269G>T
c.130G>T (p.Gly44Ter)
c.595G>T (p.Gly199Ter)
13g.23358368C>GCA387551939SACSc.571G>C (p.Gly191Arg)
n.709G>C
c.562G>C (p.Gly188Arg)
n.2928G>C
c.-1680G>C (n.-1680G>C)
c.269G>C
c.130G>C (p.Gly44Arg)
c.595G>C (p.Gly199Arg)
13g.23358368C>TCA387551940SACSc.571G>A (p.Gly191Arg)
n.709G>A
c.562G>A (p.Gly188Arg)
n.2928G>A
c.-1680G>A (n.-1680G>A)
c.269G>A
c.130G>A (p.Gly44Arg)
c.595G>A (p.Gly199Arg)
13g.23358369A=CA2078636433SACSc.570T= (p.Phe190=)
n.708T=
c.561T= (p.Phe187=)
n.2927T=
c.-1681T= (n.-1681T=)
c.268T=
c.129T= (p.Phe43=)
c.594T= (p.Phe198=)
13g.23358369A>CCA387551941SACSc.570T>G (p.Phe190Leu)
n.708T>G
c.561T>G (p.Phe187Leu)
n.2927T>G
c.-1681T>G (n.-1681T>G)
c.268T>G
c.129T>G (p.Phe43Leu)
c.594T>G (p.Phe198Leu)
13g.23358369A>GCA482922009SACSc.570T>C (p.Phe190=)
n.708T>C
c.561T>C (p.Phe187=)
n.2927T>C
c.-1681T>C (n.-1681T>C)
c.268T>C
c.129T>C (p.Phe43=)
c.594T>C (p.Phe198=)
 gnomAD v4
13g.23358369A>TCA246680318SACSc.570T>A (p.Phe190Leu)
n.708T>A
c.561T>A (p.Phe187Leu)
n.2927T>A
c.-1681T>A (n.-1681T>A)
c.268T>A
c.129T>A (p.Phe43Leu)
c.594T>A (p.Phe198Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.23358370A>CCA387551942SACSc.569T>G (p.Phe190Cys)
n.707T>G
c.560T>G (p.Phe187Cys)
n.2926T>G
c.-1682T>G (n.-1682T>G)
c.267T>G
c.128T>G (p.Phe43Cys)
c.593T>G (p.Phe198Cys)
13g.23358370A>GCA387551943SACSc.569T>C (p.Phe190Ser)
n.707T>C
c.560T>C (p.Phe187Ser)
n.2926T>C
c.-1682T>C (n.-1682T>C)
c.267T>C
c.128T>C (p.Phe43Ser)
c.593T>C (p.Phe198Ser)
13g.23358370A>TCA387551944SACSc.569T>A (p.Phe190Tyr)
n.707T>A
c.560T>A (p.Phe187Tyr)
n.2926T>A
c.-1682T>A (n.-1682T>A)
c.267T>A
c.128T>A (p.Phe43Tyr)
c.593T>A (p.Phe198Tyr)
13g.23358371A>CCA387551947SACSc.568T>G (p.Phe190Val)
n.706T>G
c.559T>G (p.Phe187Val)
n.2925T>G
c.-1683T>G (n.-1683T>G)
c.266T>G
c.127T>G (p.Phe43Val)
c.592T>G (p.Phe198Val)
13g.23358371A>GCA387551945SACSc.568T>C (p.Phe190Leu)
n.706T>C
c.559T>C (p.Phe187Leu)
n.2925T>C
c.-1683T>C (n.-1683T>C)
c.266T>C
c.127T>C (p.Phe43Leu)
c.592T>C (p.Phe198Leu)
13g.23358371A>TCA387551946SACSc.568T>A (p.Phe190Ile)
n.706T>A
c.559T>A (p.Phe187Ile)
n.2925T>A
c.-1683T>A (n.-1683T>A)
c.266T>A
c.127T>A (p.Phe43Ile)
c.592T>A (p.Phe198Ile)
13g.23358372T>ACA387551948SACSc.567A>T (p.Arg189Ser)
n.705A>T
c.558A>T (p.Arg186Ser)
n.2924A>T
c.-1684A>T (n.-1684A>T)
c.265A>T
c.126A>T (p.Arg42Ser)
c.591A>T (p.Arg197Ser)
13g.23358372T>CCA482922026SACSc.567A>G (p.Arg189=)
n.705A>G
c.558A>G (p.Arg186=)
n.2924A>G
c.-1684A>G (n.-1684A>G)
c.265A>G
c.126A>G (p.Arg42=)
c.591A>G (p.Arg197=)
 gnomAD v4
13g.23358372T>GCA387551949SACSc.567A>C (p.Arg189Ser)
n.705A>C
c.558A>C (p.Arg186Ser)
n.2924A>C
c.-1684A>C (n.-1684A>C)
c.265A>C
c.126A>C (p.Arg42Ser)
c.591A>C (p.Arg197Ser)
13g.23358373C>ACA387551950SACSc.566G>T (p.Arg189Ile)
n.704G>T
c.557G>T (p.Arg186Ile)
n.2923G>T
c.-1685G>T (n.-1685G>T)
c.264G>T
c.125G>T (p.Arg42Ile)
c.590G>T (p.Arg197Ile)
13g.23358373C>GCA387551951SACSc.566G>C (p.Arg189Thr)
n.704G>C
c.557G>C (p.Arg186Thr)
n.2923G>C
c.-1685G>C (n.-1685G>C)
c.264G>C
c.125G>C (p.Arg42Thr)
c.590G>C (p.Arg197Thr)
13g.23358373C>TCA387551952SACSc.566G>A (p.Arg189Lys)
n.704G>A
c.557G>A (p.Arg186Lys)
n.2923G>A
c.-1685G>A (n.-1685G>A)
c.264G>A
c.125G>A (p.Arg42Lys)
c.590G>A (p.Arg197Lys)
13g.23358374T>ACA387551953SACSc.565A>T (p.Arg189Ter)
n.703A>T
c.556A>T (p.Arg186Ter)
n.2922A>T
c.-1686A>T (n.-1686A>T)
c.263A>T
c.124A>T (p.Arg42Ter)
c.589A>T (p.Arg197Ter)
13g.23358374T>CCA387551954SACSc.565A>G (p.Arg189Gly)
n.703A>G
c.556A>G (p.Arg186Gly)
n.2922A>G
c.-1686A>G (n.-1686A>G)
c.263A>G
c.124A>G (p.Arg42Gly)
c.589A>G (p.Arg197Gly)
13g.23358374T>GCA482922034SACSc.565A>C (p.Arg189=)
n.703A>C
c.556A>C (p.Arg186=)
n.2922A>C
c.-1686A>C (n.-1686A>C)
c.263A>C
c.124A>C (p.Arg42=)
c.589A>C (p.Arg197=)
13g.23358375T>ACA482922036SACSc.564A>T (p.Gly188=)
n.702A>T
c.555A>T (p.Gly185=)
n.2921A>T
c.-1687A>T (n.-1687A>T)
c.262A>T
c.123A>T (p.Gly41=)
c.588A>T (p.Gly196=)
13g.23358375T>CCA482922038SACSc.564A>G (p.Gly188=)
n.702A>G
c.555A>G (p.Gly185=)
n.2921A>G
c.-1687A>G (n.-1687A>G)
c.262A>G
c.123A>G (p.Gly41=)
c.588A>G (p.Gly196=)
13g.23358375T>GCA482922040SACSc.564A>C (p.Gly188=)
n.702A>C
c.555A>C (p.Gly185=)
n.2921A>C
c.-1687A>C (n.-1687A>C)
c.262A>C
c.123A>C (p.Gly41=)
c.588A>C (p.Gly196=)
 gnomAD v4
13g.23358375_23358376delCA2580086879SACSc.563_564del (p.Gly188GlufsTer7)
n.701_702del
c.554_555del (p.Gly185GlufsTer7)
n.2920_2921del
c.-1688_-1687del (n.-1688_-1687del)
c.261_262del
c.122_123del (p.Gly41GlufsTer7)
c.587_588del (p.Gly196GlufsTer7)
 ClinVar
13g.23358376C>ACA387551955SACSc.563G>T (p.Gly188Val)
n.701G>T
c.554G>T (p.Gly185Val)
n.2920G>T
c.-1688G>T (n.-1688G>T)
c.261G>T
c.122G>T (p.Gly41Val)
c.587G>T (p.Gly196Val)
13g.23358376C>GCA387551956SACSc.563G>C (p.Gly188Ala)
n.701G>C
c.554G>C (p.Gly185Ala)
n.2920G>C
c.-1688G>C (n.-1688G>C)
c.261G>C
c.122G>C (p.Gly41Ala)
c.587G>C (p.Gly196Ala)
13g.23358376C>TCA387551957SACSc.563G>A (p.Gly188Glu)
n.701G>A
c.554G>A (p.Gly185Glu)
n.2920G>A
c.-1688G>A (n.-1688G>A)
c.261G>A
c.122G>A (p.Gly41Glu)
c.587G>A (p.Gly196Glu)
13g.23358377C>ACA387551959SACSc.562G>T (p.Gly188Ter)
n.700G>T
c.553G>T (p.Gly185Ter)
n.2919G>T
c.-1689G>T (n.-1689G>T)
c.260G>T
c.121G>T (p.Gly41Ter)
c.586G>T (p.Gly196Ter)
13g.23358377C=CA2078636437SACSc.562G= (p.Gly188=)
n.700G=
c.553G= (p.Gly185=)
n.2919G=
c.-1689G= (n.-1689G=)
c.260G=
c.121G= (p.Gly41=)
c.586G= (p.Gly196=)
13g.23358377C>GCA387551958SACSc.562G>C (p.Gly188Arg)
n.700G>C
c.553G>C (p.Gly185Arg)
n.2919G>C
c.-1689G>C (n.-1689G>C)
c.260G>C
c.121G>C (p.Gly41Arg)
c.586G>C (p.Gly196Arg)
13g.23358377C>TCA6912057SACSc.562G>A (p.Gly188Arg)
n.700G>A
c.553G>A (p.Gly185Arg)
n.2919G>A
c.-1689G>A (n.-1689G>A)
c.260G>A
c.121G>A (p.Gly41Arg)
c.586G>A (p.Gly196Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.23358378G>ACA6912058SACSc.561C>T (p.Val187=)
n.699C>T
c.552C>T (p.Val184=)
n.2918C>T
c.-1690C>T (n.-1690C>T)
c.259C>T
c.120C>T (p.Val40=)
c.585C>T (p.Val195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.23358378G>CCA482922053SACSc.561C>G (p.Val187=)
n.699C>G
c.552C>G (p.Val184=)
n.2918C>G
c.-1690C>G (n.-1690C>G)
c.259C>G
c.120C>G (p.Val40=)
c.585C>G (p.Val195=)
13g.23358378G=CA2078636443SACSc.561C= (p.Val187=)
n.699C=
c.552C= (p.Val184=)
n.2918C=
c.-1690C= (n.-1690C=)
c.259C=
c.120C= (p.Val40=)
c.585C= (p.Val195=)
13g.23358378G>TCA246680323SACSc.561C>A (p.Val187=)
n.699C>A
c.552C>A (p.Val184=)
n.2918C>A
c.-1690C>A (n.-1690C>A)
c.259C>A
c.120C>A (p.Val40=)
c.585C>A (p.Val195=)
 dbSNP gnomAD v4
13g.23358379A>CCA387551960SACSc.560T>G (p.Val187Gly)
n.698T>G
c.551T>G (p.Val184Gly)
n.2917T>G
c.-1691T>G (n.-1691T>G)
c.258T>G
c.119T>G (p.Val40Gly)
c.584T>G (p.Val195Gly)
13g.23358379A>GCA387551961SACSc.560T>C (p.Val187Ala)
n.698T>C
c.551T>C (p.Val184Ala)
n.2917T>C
c.-1691T>C (n.-1691T>C)
c.258T>C
c.119T>C (p.Val40Ala)
c.584T>C (p.Val195Ala)
13g.23358379A>TCA387551962SACSc.560T>A (p.Val187Asp)
n.698T>A
c.551T>A (p.Val184Asp)
n.2917T>A
c.-1691T>A (n.-1691T>A)
c.258T>A
c.119T>A (p.Val40Asp)
c.584T>A (p.Val195Asp)
13g.23358380C>ACA387551963SACSc.559G>T (p.Val187Phe)
n.697G>T
c.550G>T (p.Val184Phe)
n.2916G>T
c.-1692G>T (n.-1692G>T)
c.257G>T
c.118G>T (p.Val40Phe)
c.583G>T (p.Val195Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.23358380C=CA2078636455SACSc.559G= (p.Val187=)
n.697G=
c.550G= (p.Val184=)
n.2916G=
c.-1692G= (n.-1692G=)
c.257G=
c.118G= (p.Val40=)
c.583G= (p.Val195=)
13g.23358380C>GCA387551964SACSc.559G>C (p.Val187Leu)
n.697G>C
c.550G>C (p.Val184Leu)
n.2916G>C
c.-1692G>C (n.-1692G>C)
c.257G>C
c.118G>C (p.Val40Leu)
c.583G>C (p.Val195Leu)
13g.23358380C>TCA387551965SACSc.559G>A (p.Val187Ile)
n.697G>A
c.550G>A (p.Val184Ile)
n.2916G>A
c.-1692G>A (n.-1692G>A)
c.257G>A
c.118G>A (p.Val40Ile)
c.583G>A (p.Val195Ile)
13g.23358381C>ACA387551966SACSc.558G>T (p.Lys186Asn)
n.696G>T
c.549G>T (p.Lys183Asn)
n.2915G>T
c.-1693G>T (n.-1693G>T)
c.256G>T
c.117G>T (p.Lys39Asn)
c.582G>T (p.Lys194Asn)
13g.23358381C>GCA387551967SACSc.558G>C (p.Lys186Asn)
n.696G>C
c.549G>C (p.Lys183Asn)
n.2915G>C
c.-1693G>C (n.-1693G>C)
c.256G>C
c.117G>C (p.Lys39Asn)
c.582G>C (p.Lys194Asn)
13g.23358381C>TCA482922066SACSc.558G>A (p.Lys186=)
n.696G>A
c.549G>A (p.Lys183=)
n.2915G>A
c.-1693G>A (n.-1693G>A)
c.256G>A
c.117G>A (p.Lys39=)
c.582G>A (p.Lys194=)
13g.23358382T>ACA387551968SACSc.557A>T (p.Lys186Met)
n.695A>T
c.548A>T (p.Lys183Met)
n.2914A>T
c.-1694A>T (n.-1694A>T)
c.255A>T
c.116A>T (p.Lys39Met)
c.581A>T (p.Lys194Met)
13g.23358382T>CCA387551969SACSc.557A>G (p.Lys186Arg)
n.695A>G
c.548A>G (p.Lys183Arg)
n.2914A>G
c.-1694A>G (n.-1694A>G)
c.255A>G
c.116A>G (p.Lys39Arg)
c.581A>G (p.Lys194Arg)
13g.23358382T>GCA387551970SACSc.557A>C (p.Lys186Thr)
n.695A>C
c.548A>C (p.Lys183Thr)
n.2914A>C
c.-1694A>C (n.-1694A>C)
c.255A>C
c.116A>C (p.Lys39Thr)
c.581A>C (p.Lys194Thr)
13g.23358383T>ACA387551972SACSc.556A>T (p.Lys186Ter)
n.694A>T
c.547A>T (p.Lys183Ter)
n.2913A>T
c.-1695A>T (n.-1695A>T)
c.254A>T
c.115A>T (p.Lys39Ter)
c.580A>T (p.Lys194Ter)
13g.23358383T>CCA246680330SACSc.556A>G (p.Lys186Glu)
n.694A>G
c.547A>G (p.Lys183Glu)
n.2913A>G
c.-1695A>G (n.-1695A>G)
c.254A>G
c.115A>G (p.Lys39Glu)
c.580A>G (p.Lys194Glu)
 dbSNP gnomAD v3 gnomAD v4
13g.23358383T>GCA387551971SACSc.556A>C (p.Lys186Gln)
n.694A>C
c.547A>C (p.Lys183Gln)
n.2913A>C
c.-1695A>C (n.-1695A>C)
c.254A>C
c.115A>C (p.Lys39Gln)
c.580A>C (p.Lys194Gln)
13g.23358383T=CA2078636457SACSc.556A= (p.Lys186=)
n.694A=
c.547A= (p.Lys183=)
n.2913A=
c.-1695A= (n.-1695A=)
c.254A=
c.115A= (p.Lys39=)
c.580A= (p.Lys194=)
13g.23358384C>ACA482922082SACSc.555G>T (p.Leu185=)
n.693G>T
c.546G>T (p.Leu182=)
n.2912G>T
c.-1696G>T (n.-1696G>T)
c.253G>T
c.114G>T (p.Leu38=)
c.579G>T (p.Leu193=)
13g.23358384C>GCA482922078SACSc.555G>C (p.Leu185=)
n.693G>C
c.546G>C (p.Leu182=)
n.2912G>C
c.-1696G>C (n.-1696G>C)
c.253G>C
c.114G>C (p.Leu38=)
c.579G>C (p.Leu193=)
 gnomAD v4
13g.23358384C>TCA482922080SACSc.555G>A (p.Leu185=)
n.693G>A
c.546G>A (p.Leu182=)
n.2912G>A
c.-1696G>A (n.-1696G>A)
c.253G>A
c.114G>A (p.Leu38=)
c.579G>A (p.Leu193=)
13g.23358384_23358385delCA2580086881SACSc.554_555del (p.Leu185GlnfsTer10)
n.692_693del
c.545_546del (p.Leu182GlnfsTer10)
n.2911_2912del
c.-1697_-1696del (n.-1697_-1696del)
c.252_253del
c.113_114del (p.Leu38GlnfsTer10)
c.578_579del (p.Leu193GlnfsTer10)
 ClinVar
13g.23358385A=CA2078636462SACSc.554T= (p.Leu185=)
n.692T=
c.545T= (p.Leu182=)
n.2911T=
c.-1697T= (n.-1697T=)
c.252T=
c.113T= (p.Leu38=)
c.578T= (p.Leu193=)
13g.23358385A>CCA6912059SACSc.554T>G (p.Leu185Arg)
n.692T>G
c.545T>G (p.Leu182Arg)
n.2911T>G
c.-1697T>G (n.-1697T>G)
c.252T>G
c.113T>G (p.Leu38Arg)
c.578T>G (p.Leu193Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.23358385A>GCA387551973SACSc.554T>C (p.Leu185Pro)
n.692T>C
c.545T>C (p.Leu182Pro)
n.2911T>C
c.-1697T>C (n.-1697T>C)
c.252T>C
c.113T>C (p.Leu38Pro)
c.578T>C (p.Leu193Pro)
13g.23358385A>TCA387551974SACSc.554T>A (p.Leu185Gln)
n.692T>A
c.545T>A (p.Leu182Gln)
n.2911T>A
c.-1697T>A (n.-1697T>A)
c.252T>A
c.113T>A (p.Leu38Gln)
c.578T>A (p.Leu193Gln)
13g.23358387_23358388dupCA954043434SACSc.553_554dup (p.Lys186Ter)
n.691_692dup
c.544_545dup (p.Lys183Ter)
n.2910_2911dup
c.-1698_-1697dup (n.-1698_-1697dup)
c.251_252dup
c.112_113dup (p.Lys39Ter)
c.577_578dup (p.Lys194Ter)
 gnomAD v3 gnomAD v4
13g.23358386G>ACA482922089SACSc.553C>T (p.Leu185=)
n.691C>T
c.544C>T (p.Leu182=)
n.2910C>T
c.-1698C>T (n.-1698C>T)
c.251C>T
c.112C>T (p.Leu38=)
c.577C>T (p.Leu193=)
 gnomAD v4 COSMIC COSMIC
13g.23358386G>CCA387551975SACSc.553C>G (p.Leu185Val)
n.691C>G
c.544C>G (p.Leu182Val)
n.2910C>G
c.-1698C>G (n.-1698C>G)
c.251C>G
c.112C>G (p.Leu38Val)
c.577C>G (p.Leu193Val)
13g.23358386G>TCA387551976SACSc.553C>A (p.Leu185Met)
n.691C>A
c.544C>A (p.Leu182Met)
n.2910C>A
c.-1698C>A (n.-1698C>A)
c.251C>A
c.112C>A (p.Leu38Met)
c.577C>A (p.Leu193Met)
13g.23358387A=CA2078636465SACSc.552T= (p.Pro184=)
n.690T=
c.543T= (p.Pro181=)
n.2909T=
c.-1699T= (n.-1699T=)
c.250T=
c.111T= (p.Pro37=)
c.576T= (p.Pro192=)
13g.23358387A>CCA6912060SACSc.552T>G (p.Pro184=)
n.690T>G
c.543T>G (p.Pro181=)
n.2909T>G
c.-1699T>G (n.-1699T>G)
c.250T>G
c.111T>G (p.Pro37=)
c.576T>G (p.Pro192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358387A>GCA482922091SACSc.552T>C (p.Pro184=)
n.690T>C
c.543T>C (p.Pro181=)
n.2909T>C
c.-1699T>C (n.-1699T>C)
c.250T>C
c.111T>C (p.Pro37=)
c.576T>C (p.Pro192=)
13g.23358387A>TCA482922093SACSc.552T>A (p.Pro184=)
n.690T>A
c.543T>A (p.Pro181=)
n.2909T>A
c.-1699T>A (n.-1699T>A)
c.250T>A
c.111T>A (p.Pro37=)
c.576T>A (p.Pro192=)
13g.23358388G>ACA387551977SACSc.551C>T (p.Pro184Leu)
n.689C>T
c.542C>T (p.Pro181Leu)
n.2908C>T
c.-1700C>T (n.-1700C>T)
c.249C>T
c.110C>T (p.Pro37Leu)
c.575C>T (p.Pro192Leu)
13g.23358388G>CCA387551978SACSc.551C>G (p.Pro184Arg)
n.689C>G
c.542C>G (p.Pro181Arg)
n.2908C>G
c.-1700C>G (n.-1700C>G)
c.249C>G
c.110C>G (p.Pro37Arg)
c.575C>G (p.Pro192Arg)
13g.23358388G>TCA387551979SACSc.551C>A (p.Pro184His)
n.689C>A
c.542C>A (p.Pro181His)
n.2908C>A
c.-1700C>A (n.-1700C>A)
c.249C>A
c.110C>A (p.Pro37His)
c.575C>A (p.Pro192His)
13g.23358389G>ACA387551980SACSc.550C>T (p.Pro184Ser)
n.688C>T
c.541C>T (p.Pro181Ser)
n.2907C>T
c.-1701C>T (n.-1701C>T)
c.248C>T
c.109C>T (p.Pro37Ser)
c.574C>T (p.Pro192Ser)
13g.23358389G>CCA387551981SACSc.550C>G (p.Pro184Ala)
n.688C>G
c.541C>G (p.Pro181Ala)
n.2907C>G
c.-1701C>G (n.-1701C>G)
c.248C>G
c.109C>G (p.Pro37Ala)
c.574C>G (p.Pro192Ala)
13g.23358389G>TCA387551982SACSc.550C>A (p.Pro184Thr)
n.688C>A
c.541C>A (p.Pro181Thr)
n.2907C>A
c.-1701C>A (n.-1701C>A)
c.248C>A
c.109C>A (p.Pro37Thr)
c.574C>A (p.Pro192Thr)
13g.23358390A>CCA387551984SACSc.549T>G (p.Asp183Glu)
n.687T>G
c.540T>G (p.Asp180Glu)
n.2906T>G
c.-1702T>G (n.-1702T>G)
c.247T>G
c.108T>G (p.Asp36Glu)
c.573T>G (p.Asp191Glu)
13g.23358390A>GCA482922111SACSc.549T>C (p.Asp183=)
n.687T>C
c.540T>C (p.Asp180=)
n.2906T>C
c.-1702T>C (n.-1702T>C)
c.247T>C
c.108T>C (p.Asp36=)
c.573T>C (p.Asp191=)
13g.23358390A>TCA387551983SACSc.549T>A (p.Asp183Glu)
n.687T>A
c.540T>A (p.Asp180Glu)
n.2906T>A
c.-1702T>A (n.-1702T>A)
c.247T>A
c.108T>A (p.Asp36Glu)
c.573T>A (p.Asp191Glu)
13g.23358391T>ACA387551985SACSc.548A>T (p.Asp183Val)
n.686A>T
c.539A>T (p.Asp180Val)
n.2905A>T
c.-1703A>T (n.-1703A>T)
c.246A>T
c.107A>T (p.Asp36Val)
c.572A>T (p.Asp191Val)
 dbSNP
13g.23358391T>CCA387551987SACSc.548A>G (p.Asp183Gly)
n.686A>G
c.539A>G (p.Asp180Gly)
n.2905A>G
c.-1703A>G (n.-1703A>G)
c.246A>G
c.107A>G (p.Asp36Gly)
c.572A>G (p.Asp191Gly)
 gnomAD v4
13g.23358391T>GCA387551986SACSc.548A>C (p.Asp183Ala)
n.686A>C
c.539A>C (p.Asp180Ala)
n.2905A>C
c.-1703A>C (n.-1703A>C)
c.246A>C
c.107A>C (p.Asp36Ala)
c.572A>C (p.Asp191Ala)
13g.23358391T=CA2078636467SACSc.548A= (p.Asp183=)
n.686A=
c.539A= (p.Asp180=)
n.2905A=
c.-1703A= (n.-1703A=)
c.246A=
c.107A= (p.Asp36=)
c.572A= (p.Asp191=)
13g.23358392C>ACA387551988SACSc.547G>T (p.Asp183Tyr)
n.685G>T
c.538G>T (p.Asp180Tyr)
n.2904G>T
c.-1704G>T (n.-1704G>T)
c.245G>T
c.106G>T (p.Asp36Tyr)
c.571G>T (p.Asp191Tyr)
13g.23358392C>GCA387551990SACSc.547G>C (p.Asp183His)
n.685G>C
c.538G>C (p.Asp180His)
n.2904G>C
c.-1704G>C (n.-1704G>C)
c.245G>C
c.106G>C (p.Asp36His)
c.571G>C (p.Asp191His)
13g.23358392C>TCA387551989SACSc.547G>A (p.Asp183Asn)
n.685G>A
c.538G>A (p.Asp180Asn)
n.2904G>A
c.-1704G>A (n.-1704G>A)
c.245G>A
c.106G>A (p.Asp36Asn)
c.571G>A (p.Asp191Asn)
13g.23358393A>CCA387551991SACSc.546T>G (p.Asp182Glu)
n.684T>G
c.537T>G (p.Asp179Glu)
n.2903T>G
c.-1705T>G (n.-1705T>G)
c.244T>G
c.105T>G (p.Asp35Glu)
c.570T>G (p.Asp190Glu)
13g.23358393A>GCA482922125SACSc.546T>C (p.Asp182=)
n.684T>C
c.537T>C (p.Asp179=)
n.2903T>C
c.-1705T>C (n.-1705T>C)
c.244T>C
c.105T>C (p.Asp35=)
c.570T>C (p.Asp190=)
13g.23358393A>TCA387551992SACSc.546T>A (p.Asp182Glu)
n.684T>A
c.537T>A (p.Asp179Glu)
n.2903T>A
c.-1705T>A (n.-1705T>A)
c.244T>A
c.105T>A (p.Asp35Glu)
c.570T>A (p.Asp190Glu)
13g.23358394T>ACA387551993SACSc.545A>T (p.Asp182Val)
n.683A>T
c.536A>T (p.Asp179Val)
n.2902A>T
c.-1706A>T (n.-1706A>T)
c.243A>T
c.104A>T (p.Asp35Val)
c.569A>T (p.Asp190Val)
 gnomAD v4
13g.23358394T>CCA387551994SACSc.545A>G (p.Asp182Gly)
n.683A>G
c.536A>G (p.Asp179Gly)
n.2902A>G
c.-1706A>G (n.-1706A>G)
c.243A>G
c.104A>G (p.Asp35Gly)
c.569A>G (p.Asp190Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.23358394T>GCA387551995SACSc.545A>C (p.Asp182Ala)
n.683A>C
c.536A>C (p.Asp179Ala)
n.2902A>C
c.-1706A>C (n.-1706A>C)
c.243A>C
c.104A>C (p.Asp35Ala)
c.569A>C (p.Asp190Ala)
13g.23358394T=CA2078636469SACSc.545A= (p.Asp182=)
n.683A=
c.536A= (p.Asp179=)
n.2902A=
c.-1706A= (n.-1706A=)
c.243A=
c.104A= (p.Asp35=)
c.569A= (p.Asp190=)
13g.23358395C>ACA387551996SACSc.544G>T (p.Asp182Tyr)
n.682G>T
c.535G>T (p.Asp179Tyr)
n.2901G>T
c.-1707G>T (n.-1707G>T)
c.242G>T
c.103G>T (p.Asp35Tyr)
c.568G>T (p.Asp190Tyr)
13g.23358395C>GCA387551997SACSc.544G>C (p.Asp182His)
n.682G>C
c.535G>C (p.Asp179His)
n.2901G>C
c.-1707G>C (n.-1707G>C)
c.242G>C
c.103G>C (p.Asp35His)
c.568G>C (p.Asp190His)
13g.23358395C>TCA387551998SACSc.544G>A (p.Asp182Asn)
n.682G>A
c.535G>A (p.Asp179Asn)
n.2901G>A
c.-1707G>A (n.-1707G>A)
c.242G>A
c.103G>A (p.Asp35Asn)
c.568G>A (p.Asp190Asn)
 gnomAD v4
13g.23358396C>ACA387551999SACSc.543G>T (p.Lys181Asn)
n.681G>T
c.534G>T (p.Lys178Asn)
n.2900G>T
c.-1708G>T (n.-1708G>T)
c.241G>T
c.102G>T (p.Lys34Asn)
c.567G>T (p.Lys189Asn)
13g.23358396C=CA2078636471SACSc.543G= (p.Lys181=)
n.681G=
c.534G= (p.Lys178=)
n.2900G=
c.-1708G= (n.-1708G=)
c.241G=
c.102G= (p.Lys34=)
c.567G= (p.Lys189=)
13g.23358396C>GCA387552000SACSc.543G>C (p.Lys181Asn)
n.681G>C
c.534G>C (p.Lys178Asn)
n.2900G>C
c.-1708G>C (n.-1708G>C)
c.241G>C
c.102G>C (p.Lys34Asn)
c.567G>C (p.Lys189Asn)
 gnomAD v4
13g.23358396C>TCA482922134SACSc.543G>A (p.Lys181=)
n.681G>A
c.534G>A (p.Lys178=)
n.2900G>A
c.-1708G>A (n.-1708G>A)
c.241G>A
c.102G>A (p.Lys34=)
c.567G>A (p.Lys189=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.23358397T>ACA387552001SACSc.542A>T (p.Lys181Met)
n.680A>T
c.533A>T (p.Lys178Met)
n.2899A>T
c.-1709A>T (n.-1709A>T)
c.240A>T
c.101A>T (p.Lys34Met)
c.566A>T (p.Lys189Met)
 gnomAD v4
13g.23358397T>CCA387552002SACSc.542A>G (p.Lys181Arg)
n.680A>G
c.533A>G (p.Lys178Arg)
n.2899A>G
c.-1709A>G (n.-1709A>G)
c.240A>G
c.101A>G (p.Lys34Arg)
c.566A>G (p.Lys189Arg)
13g.23358397T>GCA387552003SACSc.542A>C (p.Lys181Thr)
n.680A>C
c.533A>C (p.Lys178Thr)
n.2899A>C
c.-1709A>C (n.-1709A>C)
c.240A>C
c.101A>C (p.Lys34Thr)
c.566A>C (p.Lys189Thr)
13g.23358401dupCA2798500479SACSc.542dup (p.Asp182GlyfsTer2)
n.680dup
c.533dup (p.Asp179GlyfsTer2)
n.2899dup
c.-1709dup (n.-1709dup)
c.240dup
c.101dup (p.Asp35GlyfsTer2)
c.566dup (p.Asp190GlyfsTer2)
13g.23358401delCA2580086882SACSc.542del (p.Lys181ArgfsTer5)
n.680del
c.533del (p.Lys178ArgfsTer5)
n.2899del
c.-1709del (n.-1709del)
c.240del
c.101del (p.Lys34ArgfsTer5)
c.566del (p.Lys189ArgfsTer5)
 ClinVar
13g.23358398T>ACA387552004SACSc.541A>T (p.Lys181Ter)
n.679A>T
c.532A>T (p.Lys178Ter)
n.2898A>T
c.-1710A>T (n.-1710A>T)
c.239A>T
c.100A>T (p.Lys34Ter)
c.565A>T (p.Lys189Ter)
13g.23358398T>CCA387552006SACSc.541A>G (p.Lys181Glu)
n.679A>G
c.532A>G (p.Lys178Glu)
n.2898A>G
c.-1710A>G (n.-1710A>G)
c.239A>G
c.100A>G (p.Lys34Glu)
c.565A>G (p.Lys189Glu)
 dbSNP
13g.23358398T>GCA387552005SACSc.541A>C (p.Lys181Gln)
n.679A>C
c.532A>C (p.Lys178Gln)
n.2898A>C
c.-1710A>C (n.-1710A>C)
c.239A>C
c.100A>C (p.Lys34Gln)
c.565A>C (p.Lys189Gln)
13g.23358398T=CA2078636474SACSc.541A= (p.Lys181=)
n.679A=
c.532A= (p.Lys178=)
n.2898A=
c.-1710A= (n.-1710A=)
c.239A=
c.100A= (p.Lys34=)
c.565A= (p.Lys189=)
13g.23358399T>ACA387552007SACSc.540A>T (p.Lys180Asn)
n.678A>T
c.531A>T (p.Lys177Asn)
n.2897A>T
c.-1711A>T (n.-1711A>T)
c.238A>T
c.99A>T (p.Lys33Asn)
c.564A>T (p.Lys188Asn)
13g.23358399T>CCA246680340SACSc.540A>G (p.Lys180=)
n.678A>G
c.531A>G (p.Lys177=)
n.2897A>G
c.-1711A>G (n.-1711A>G)
c.238A>G
c.99A>G (p.Lys33=)
c.564A>G (p.Lys188=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.23358399T>GCA387552008SACSc.540A>C (p.Lys180Asn)
n.678A>C
c.531A>C (p.Lys177Asn)
n.2897A>C
c.-1711A>C (n.-1711A>C)
c.238A>C
c.99A>C (p.Lys33Asn)
c.564A>C (p.Lys188Asn)
13g.23358399T=CA2078636478SACSc.540A= (p.Lys180=)
n.678A=
c.531A= (p.Lys177=)
n.2897A=
c.-1711A= (n.-1711A=)
c.238A=
c.99A= (p.Lys33=)
c.564A= (p.Lys188=)
13g.23358400T>ACA387552009SACSc.539A>T (p.Lys180Ile)
n.677A>T
c.530A>T (p.Lys177Ile)
n.2896A>T
c.-1712A>T (n.-1712A>T)
c.237A>T
c.98A>T (p.Lys33Ile)
c.563A>T (p.Lys188Ile)
13g.23358400T>CCA387552010SACSc.539A>G (p.Lys180Arg)
n.677A>G
c.530A>G (p.Lys177Arg)
n.2896A>G
c.-1712A>G (n.-1712A>G)
c.237A>G
c.98A>G (p.Lys33Arg)
c.563A>G (p.Lys188Arg)
13g.23358400T>GCA387552011SACSc.539A>C (p.Lys180Thr)
n.677A>C
c.530A>C (p.Lys177Thr)
n.2896A>C
c.-1712A>C (n.-1712A>C)
c.237A>C
c.98A>C (p.Lys33Thr)
c.563A>C (p.Lys188Thr)
13g.23358401T>ACA387552012SACSc.538A>T (p.Lys180Ter)
n.676A>T
c.529A>T (p.Lys177Ter)
n.2895A>T
c.-1713A>T (n.-1713A>T)
c.236A>T
c.97A>T (p.Lys33Ter)
c.562A>T (p.Lys188Ter)
13g.23358401T>CCA387552013SACSc.538A>G (p.Lys180Glu)
n.676A>G
c.529A>G (p.Lys177Glu)
n.2895A>G
c.-1713A>G (n.-1713A>G)
c.236A>G
c.97A>G (p.Lys33Glu)
c.562A>G (p.Lys188Glu)
13g.23358401T>GCA387552014SACSc.538A>C (p.Lys180Gln)
n.676A>C
c.529A>C (p.Lys177Gln)
n.2895A>C
c.-1713A>C (n.-1713A>C)
c.236A>C
c.97A>C (p.Lys33Gln)
c.562A>C (p.Lys188Gln)
13g.23358402C>ACA387552015SACSc.537G>T (p.Arg179Ser)
n.675G>T
c.528G>T (p.Arg176Ser)
n.2894G>T
c.-1714G>T (n.-1714G>T)
c.235G>T
c.96G>T (p.Arg32Ser)
c.561G>T (p.Arg187Ser)
13g.23358402C>GCA387552016SACSc.537G>C (p.Arg179Ser)
n.675G>C
c.528G>C (p.Arg176Ser)
n.2894G>C
c.-1714G>C (n.-1714G>C)
c.235G>C
c.96G>C (p.Arg32Ser)
c.561G>C (p.Arg187Ser)
13g.23358402C>TCA482922157SACSc.537G>A (p.Arg179=)
n.675G>A
c.528G>A (p.Arg176=)
n.2894G>A
c.-1714G>A (n.-1714G>A)
c.235G>A
c.96G>A (p.Arg32=)
c.561G>A (p.Arg187=)
13g.23358403C>ACA387552019SACSc.536G>T (p.Arg179Met)
n.674G>T
c.527G>T (p.Arg176Met)
n.2893G>T
c.-1715G>T (n.-1715G>T)
c.234G>T
c.95G>T (p.Arg32Met)
c.560G>T (p.Arg187Met)
13g.23358403C>GCA387552018SACSc.536G>C (p.Arg179Thr)
n.674G>C
c.527G>C (p.Arg176Thr)
n.2893G>C
c.-1715G>C (n.-1715G>C)
c.234G>C
c.95G>C (p.Arg32Thr)
c.560G>C (p.Arg187Thr)
13g.23358403C>TCA387552017SACSc.536G>A (p.Arg179Lys)
n.674G>A
c.527G>A (p.Arg176Lys)
n.2893G>A
c.-1715G>A (n.-1715G>A)
c.234G>A
c.95G>A (p.Arg32Lys)
c.560G>A (p.Arg187Lys)
13g.23358404T>ACA387552020SACSc.535A>T (p.Arg179Trp)
n.673A>T
c.526A>T (p.Arg176Trp)
n.2892A>T
c.-1716A>T (n.-1716A>T)
c.233A>T
c.94A>T (p.Arg32Trp)
c.559A>T (p.Arg187Trp)
13g.23358404T>CCA6912061SACSc.535A>G (p.Arg179Gly)
n.673A>G
c.526A>G (p.Arg176Gly)
n.2892A>G
c.-1716A>G (n.-1716A>G)
c.233A>G
c.94A>G (p.Arg32Gly)
c.559A>G (p.Arg187Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.23358404T>GCA482922163SACSc.535A>C (p.Arg179=)
n.673A>C
c.526A>C (p.Arg176=)
n.2892A>C
c.-1716A>C (n.-1716A>C)
c.233A>C
c.94A>C (p.Arg32=)
c.559A>C (p.Arg187=)
13g.23358404T=CA2078636481SACSc.535A= (p.Arg179=)
n.673A=
c.526A= (p.Arg176=)
n.2892A=
c.-1716A= (n.-1716A=)
c.233A=
c.94A= (p.Arg32=)
c.559A= (p.Arg187=)
13g.23358405G>ACA482922165SACSc.534C>T (p.Ser178=)
n.672C>T
c.525C>T (p.Ser175=)
n.2891C>T
c.-1717C>T (n.-1717C>T)
c.232C>T
c.93C>T (p.Ser31=)
c.558C>T (p.Ser186=)
13g.23358405G>CCA387552021SACSc.534C>G (p.Ser178Arg)
n.672C>G
c.525C>G (p.Ser175Arg)
n.2891C>G
c.-1717C>G (n.-1717C>G)
c.232C>G
c.93C>G (p.Ser31Arg)
c.558C>G (p.Ser186Arg)
13g.23358405G>TCA387552022SACSc.534C>A (p.Ser178Arg)
n.672C>A
c.525C>A (p.Ser175Arg)
n.2891C>A
c.-1717C>A (n.-1717C>A)
c.232C>A
c.93C>A (p.Ser31Arg)
c.558C>A (p.Ser186Arg)
13g.23358406C>ACA387552023SACSc.533G>T (p.Ser178Ile)
n.671G>T
c.524G>T (p.Ser175Ile)
n.2890G>T
c.-1718G>T (n.-1718G>T)
c.231G>T
c.92G>T (p.Ser31Ile)
c.557G>T (p.Ser186Ile)
13g.23358406C>GCA387552024SACSc.533G>C (p.Ser178Thr)
n.671G>C
c.524G>C (p.Ser175Thr)
n.2890G>C
c.-1718G>C (n.-1718G>C)
c.231G>C
c.92G>C (p.Ser31Thr)
c.557G>C (p.Ser186Thr)
13g.23358406C>TCA387552025SACSc.533G>A (p.Ser178Asn)
n.671G>A
c.524G>A (p.Ser175Asn)
n.2890G>A
c.-1718G>A (n.-1718G>A)
c.231G>A
c.92G>A (p.Ser31Asn)
c.557G>A (p.Ser186Asn)
 gnomAD v4
13g.23358407T>ACA387552026SACSc.532A>T (p.Ser178Cys)
n.670A>T
c.523A>T (p.Ser175Cys)
n.2889A>T
c.-1719A>T (n.-1719A>T)
c.230A>T
c.91A>T (p.Ser31Cys)
c.556A>T (p.Ser186Cys)
13g.23358407T>CCA387552027SACSc.532A>G (p.Ser178Gly)
n.670A>G
c.523A>G (p.Ser175Gly)
n.2889A>G
c.-1719A>G (n.-1719A>G)
c.230A>G
c.91A>G (p.Ser31Gly)
c.556A>G (p.Ser186Gly)
13g.23358407T>GCA387552028SACSc.532A>C (p.Ser178Arg)
n.670A>C
c.523A>C (p.Ser175Arg)
n.2889A>C
c.-1719A>C (n.-1719A>C)
c.230A>C
c.91A>C (p.Ser31Arg)
c.556A>C (p.Ser186Arg)
13g.23358408T>ACA387552029SACSc.531A>T (p.Arg177Ser)
n.669A>T
c.522A>T (p.Arg174Ser)
n.2888A>T
c.-1720A>T (n.-1720A>T)
c.229A>T
c.90A>T (p.Arg30Ser)
c.555A>T (p.Arg185Ser)
13g.23358408T>CCA482922177SACSc.531A>G (p.Arg177=)
n.669A>G
c.522A>G (p.Arg174=)
n.2888A>G
c.-1720A>G (n.-1720A>G)
c.229A>G
c.90A>G (p.Arg30=)
c.555A>G (p.Arg185=)
 gnomAD v4
13g.23358408T>GCA387552030SACSc.531A>C (p.Arg177Ser)
n.669A>C
c.522A>C (p.Arg174Ser)
n.2888A>C
c.-1720A>C (n.-1720A>C)
c.229A>C
c.90A>C (p.Arg30Ser)
c.555A>C (p.Arg185Ser)
13g.23358409C>ACA387552033SACSc.530G>T (p.Arg177Ile)
n.668G>T
c.521G>T (p.Arg174Ile)
n.2887G>T
c.-1721G>T (n.-1721G>T)
c.228G>T
c.89G>T (p.Arg30Ile)
c.554G>T (p.Arg185Ile)
13g.23358409C>GCA387552032SACSc.530G>C (p.Arg177Thr)
n.668G>C
c.521G>C (p.Arg174Thr)
n.2887G>C
c.-1721G>C (n.-1721G>C)
c.228G>C
c.89G>C (p.Arg30Thr)
c.554G>C (p.Arg185Thr)
13g.23358409C>TCA387552031SACSc.530G>A (p.Arg177Lys)
n.668G>A
c.521G>A (p.Arg174Lys)
n.2887G>A
c.-1721G>A (n.-1721G>A)
c.228G>A
c.89G>A (p.Arg30Lys)
c.554G>A (p.Arg185Lys)
13g.23358410T>ACA387552034SACSc.529A>T (p.Arg177Ter)
n.667A>T
c.520A>T (p.Arg174Ter)
n.2886A>T
c.-1722A>T (n.-1722A>T)
c.227A>T
c.88A>T (p.Arg30Ter)
c.553A>T (p.Arg185Ter)
 ClinVar
13g.23358410T>CCA387552035SACSc.529A>G (p.Arg177Gly)
n.667A>G
c.520A>G (p.Arg174Gly)
n.2886A>G
c.-1722A>G (n.-1722A>G)
c.227A>G
c.88A>G (p.Arg30Gly)
c.553A>G (p.Arg185Gly)
13g.23358410T>GCA482922185SACSc.529A>C (p.Arg177=)
n.667A>C
c.520A>C (p.Arg174=)
n.2886A>C
c.-1722A>C (n.-1722A>C)
c.227A>C
c.88A>C (p.Arg30=)
c.553A>C (p.Arg185=)
13g.23358411T>ACA482922193SACSc.528A>T (p.Ala176=)
n.666A>T
c.519A>T (p.Ala173=)
n.2885A>T
c.-1723A>T (n.-1723A>T)
c.226A>T
c.87A>T (p.Ala29=)
c.552A>T (p.Ala184=)
13g.23358411T>CCA482922195SACSc.528A>G (p.Ala176=)
n.666A>G
c.519A>G (p.Ala173=)
n.2885A>G
c.-1723A>G (n.-1723A>G)
c.226A>G
c.87A>G (p.Ala29=)
c.552A>G (p.Ala184=)
 dbSNP gnomAD v2 gnomAD v4
13g.23358411T>GCA482922197SACSc.528A>C (p.Ala176=)
n.666A>C
c.519A>C (p.Ala173=)
n.2885A>C
c.-1723A>C (n.-1723A>C)
c.226A>C
c.87A>C (p.Ala29=)
c.552A>C (p.Ala184=)
13g.23358411T=CA2078636484SACSc.528A= (p.Ala176=)
n.666A=
c.519A= (p.Ala173=)
n.2885A=
c.-1723A= (n.-1723A=)
c.226A=
c.87A= (p.Ala29=)
c.552A= (p.Ala184=)
13g.23358412G>ACA387552036SACSc.527C>T (p.Ala176Val)
n.665C>T
c.518C>T (p.Ala173Val)
n.2884C>T
c.-1724C>T (n.-1724C>T)
c.225C>T
c.86C>T (p.Ala29Val)
c.551C>T (p.Ala184Val)
13g.23358412G>CCA387552037SACSc.527C>G (p.Ala176Gly)
n.665C>G
c.518C>G (p.Ala173Gly)
n.2884C>G
c.-1724C>G (n.-1724C>G)
c.225C>G
c.86C>G (p.Ala29Gly)
c.551C>G (p.Ala184Gly)
13g.23358412G>TCA387552038SACSc.527C>A (p.Ala176Glu)
n.665C>A
c.518C>A (p.Ala173Glu)
n.2884C>A
c.-1724C>A (n.-1724C>A)
c.225C>A
c.86C>A (p.Ala29Glu)
c.551C>A (p.Ala184Glu)
13g.23358413C>ACA387552039SACSc.526G>T (p.Ala176Ser)
n.664G>T
c.517G>T (p.Ala173Ser)
n.2883G>T
c.-1725G>T (n.-1725G>T)
c.224G>T
c.85G>T (p.Ala29Ser)
c.550G>T (p.Ala184Ser)
13g.23358413C>GCA387552040SACSc.526G>C (p.Ala176Pro)
n.664G>C
c.517G>C (p.Ala173Pro)
n.2883G>C
c.-1725G>C (n.-1725G>C)
c.224G>C
c.85G>C (p.Ala29Pro)
c.550G>C (p.Ala184Pro)
13g.23358413C>TCA387552041SACSc.526G>A (p.Ala176Thr)
n.664G>A
c.517G>A (p.Ala173Thr)
n.2883G>A
c.-1725G>A (n.-1725G>A)
c.224G>A
c.85G>A (p.Ala29Thr)
c.550G>A (p.Ala184Thr)
13g.23358414T>ACA482922203SACSc.525A>T (p.Ile175=)
n.663A>T
c.516A>T (p.Ile172=)
n.2882A>T
c.-1726A>T (n.-1726A>T)
c.223A>T
c.84A>T (p.Ile28=)
c.549A>T (p.Ile183=)
13g.23358414T>CCA387552042SACSc.525A>G (p.Ile175Met)
n.663A>G
c.516A>G (p.Ile172Met)
n.2882A>G
c.-1726A>G (n.-1726A>G)
c.223A>G
c.84A>G (p.Ile28Met)
c.549A>G (p.Ile183Met)
13g.23358414T>GCA482922206SACSc.525A>C (p.Ile175=)
n.663A>C
c.516A>C (p.Ile172=)
n.2882A>C
c.-1726A>C (n.-1726A>C)
c.223A>C
c.84A>C (p.Ile28=)
c.549A>C (p.Ile183=)
13g.23358415A>CCA387552043SACSc.524T>G (p.Ile175Arg)
n.662T>G
c.515T>G (p.Ile172Arg)
n.2881T>G
c.-1727T>G (n.-1727T>G)
c.222T>G
c.83T>G (p.Ile28Arg)
c.548T>G (p.Ile183Arg)
13g.23358415A>GCA387552044SACSc.524T>C (p.Ile175Thr)
n.662T>C
c.515T>C (p.Ile172Thr)
n.2881T>C
c.-1727T>C (n.-1727T>C)
c.222T>C
c.83T>C (p.Ile28Thr)
c.548T>C (p.Ile183Thr)
13g.23358415A>TCA387552045SACSc.524T>A (p.Ile175Lys)
n.662T>A
c.515T>A (p.Ile172Lys)
n.2881T>A
c.-1727T>A (n.-1727T>A)
c.222T>A
c.83T>A (p.Ile28Lys)
c.548T>A (p.Ile183Lys)
13g.23358416T>ACA387552048SACSc.523A>T (p.Ile175Leu)
n.661A>T
c.514A>T (p.Ile172Leu)
n.2880A>T
c.-1728A>T (n.-1728A>T)
c.221A>T
c.82A>T (p.Ile28Leu)
c.547A>T (p.Ile183Leu)
13g.23358416T>CCA387552047SACSc.523A>G (p.Ile175Val)
n.661A>G
c.514A>G (p.Ile172Val)
n.2880A>G
c.-1728A>G (n.-1728A>G)
c.221A>G
c.82A>G (p.Ile28Val)
c.547A>G (p.Ile183Val)
13g.23358416T>GCA387552046SACSc.523A>C (p.Ile175Leu)
n.661A>C
c.514A>C (p.Ile172Leu)
n.2880A>C
c.-1728A>C (n.-1728A>C)
c.221A>C
c.82A>C (p.Ile28Leu)
c.547A>C (p.Ile183Leu)
13g.23358417T>ACA387552049SACSc.522A>T (p.Glu174Asp)
n.660A>T
c.513A>T (p.Glu171Asp)
n.2879A>T
c.-1729A>T (n.-1729A>T)
c.220A>T
c.81A>T (p.Glu27Asp)
c.546A>T (p.Glu182Asp)
13g.23358417T>CCA482922223SACSc.522A>G (p.Glu174=)
n.660A>G
c.513A>G (p.Glu171=)
n.2879A>G
c.-1729A>G (n.-1729A>G)
c.220A>G
c.81A>G (p.Glu27=)
c.546A>G (p.Glu182=)
13g.23358417T>GCA387552050SACSc.522A>C (p.Glu174Asp)
n.660A>C
c.513A>C (p.Glu171Asp)
n.2879A>C
c.-1729A>C (n.-1729A>C)
c.220A>C
c.81A>C (p.Glu27Asp)
c.546A>C (p.Glu182Asp)
13g.23358417_23358418insAGAAAATATTATACA2518850541SACSc.521_522insTATAATATTTTCT (p.Glu174AspfsTer14)
n.659_660insTATAATATTTTCT
c.512_513insTATAATATTTTCT (p.Glu171AspfsTer14)
n.2878_2879insTATAATATTTTCT
c.-1730_-1729insTATAATATTTTCT (n.-1730_-1729insTATAATATTTTCT)
c.219_220insTATAATATTTTCT
c.80_81insTATAATATTTTCT (p.Glu27AspfsTer14)
c.545_546insTATAATATTTTCT (p.Glu182AspfsTer14)
13g.23358418T>ACA387552051SACSc.521A>T (p.Glu174Val)
n.659A>T
c.512A>T (p.Glu171Val)
n.2878A>T
c.-1730A>T (n.-1730A>T)
c.219A>T
c.80A>T (p.Glu27Val)
c.545A>T (p.Glu182Val)
13g.23358418T>CCA387552052SACSc.521A>G (p.Glu174Gly)
n.659A>G
c.512A>G (p.Glu171Gly)
n.2878A>G
c.-1730A>G (n.-1730A>G)
c.219A>G
c.80A>G (p.Glu27Gly)
c.545A>G (p.Glu182Gly)
13g.23358418T>GCA387552053SACSc.521A>C (p.Glu174Ala)
n.659A>C
c.512A>C (p.Glu171Ala)
n.2878A>C
c.-1730A>C (n.-1730A>C)
c.219A>C
c.80A>C (p.Glu27Ala)
c.545A>C (p.Glu182Ala)
13g.23358419C>ACA387552054SACSc.520G>T (p.Glu174Ter)
n.658G>T
c.511G>T (p.Glu171Ter)
n.2877G>T
c.-1731G>T (n.-1731G>T)
c.218G>T
c.79G>T (p.Glu27Ter)
c.544G>T (p.Glu182Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.23358419C>GCA387552055SACSc.520G>C (p.Glu174Gln)
n.658G>C
c.511G>C (p.Glu171Gln)
n.2877G>C
c.-1731G>C (n.-1731G>C)
c.218G>C
c.79G>C (p.Glu27Gln)
c.544G>C (p.Glu182Gln)
13g.23358419C>TCA387552056SACSc.520G>A (p.Glu174Lys)
n.658G>A
c.511G>A (p.Glu171Lys)
n.2877G>A
c.-1731G>A (n.-1731G>A)
c.218G>A
c.79G>A (p.Glu27Lys)
c.544G>A (p.Glu182Lys)
13g.23358420T>ACA387552057SACSc.519A>T (p.Gln173His)
n.657A>T
c.510A>T (p.Gln170His)
n.2876A>T
c.-1732A>T (n.-1732A>T)
c.217A>T
c.78A>T (p.Gln26His)
c.543A>T (p.Gln181His)
13g.23358420T>CCA482922236SACSc.519A>G (p.Gln173=)
n.657A>G
c.510A>G (p.Gln170=)
n.2876A>G
c.-1732A>G (n.-1732A>G)
c.217A>G
c.78A>G (p.Gln26=)
c.543A>G (p.Gln181=)
 ClinVar COSMIC COSMIC
13g.23358420T>GCA387552058SACSc.519A>C (p.Gln173His)
n.657A>C
c.510A>C (p.Gln170His)
n.2876A>C
c.-1732A>C (n.-1732A>C)
c.217A>C
c.78A>C (p.Gln26His)
c.543A>C (p.Gln181His)
13g.23358421T>ACA387552059SACSc.518A>T (p.Gln173Leu)
n.656A>T
c.509A>T (p.Gln170Leu)
n.2875A>T
c.-1733A>T (n.-1733A>T)
c.216A>T
c.77A>T (p.Gln26Leu)
c.542A>T (p.Gln181Leu)
13g.23358421T>CCA387552060SACSc.518A>G (p.Gln173Arg)
n.656A>G
c.509A>G (p.Gln170Arg)
n.2875A>G
c.-1733A>G (n.-1733A>G)
c.216A>G
c.77A>G (p.Gln26Arg)
c.542A>G (p.Gln181Arg)
13g.23358421T>GCA387552061SACSc.518A>C (p.Gln173Pro)
n.656A>C
c.509A>C (p.Gln170Pro)
n.2875A>C
c.-1733A>C (n.-1733A>C)
c.216A>C
c.77A>C (p.Gln26Pro)
c.542A>C (p.Gln181Pro)
13g.23358421_23358422insACATTCTCA2529349850SACSc.518_519insGAATGTA (p.Glu174AsnfsTer12)
n.656_657insGAATGTA
c.509_510insGAATGTA (p.Glu171AsnfsTer12)
n.2875_2876insGAATGTA
c.-1733_-1732insGAATGTA (n.-1733_-1732insGAATGTA)
c.216_217insGAATGTA
c.77_78insGAATGTA (p.Glu27AsnfsTer12)
c.542_543insGAATGTA (p.Glu182AsnfsTer12)
13g.23358422G>ACA387552062SACSc.517C>T (p.Gln173Ter)
n.655C>T
c.508C>T (p.Gln170Ter)
n.2874C>T
c.-1734C>T (n.-1734C>T)
c.215C>T
c.76C>T (p.Gln26Ter)
c.541C>T (p.Gln181Ter)
 ClinVar dbSNP
13g.23358422G>CCA387552063SACSc.517C>G (p.Gln173Glu)
n.655C>G
c.508C>G (p.Gln170Glu)
n.2874C>G
c.-1734C>G (n.-1734C>G)
c.215C>G
c.76C>G (p.Gln26Glu)
c.541C>G (p.Gln181Glu)
13g.23358422G=CA2078636488SACSc.517C= (p.Gln173=)
n.655C=
c.508C= (p.Gln170=)
n.2874C=
c.-1734C= (n.-1734C=)
c.215C=
c.76C= (p.Gln26=)
c.541C= (p.Gln181=)
13g.23358422G>TCA387552064SACSc.517C>A (p.Gln173Lys)
n.655C>A
c.508C>A (p.Gln170Lys)
n.2874C>A
c.-1734C>A (n.-1734C>A)
c.215C>A
c.76C>A (p.Gln26Lys)
c.541C>A (p.Gln181Lys)
13g.23358422_23358423insTCA2563069573SACSc.516_517insA (p.Gln173ThrfsTer11)
n.654_655insA
c.507_508insA (p.Gln170ThrfsTer11)
n.2873_2874insA
c.-1735_-1734insA (n.-1735_-1734insA)
c.214_215insA
c.75_76insA (p.Gln26ThrfsTer11)
c.540_541insA (p.Gln181ThrfsTer11)
13g.23358423A>CCA387552065SACSc.516T>G (p.Ile172Met)
n.654T>G
c.507T>G (p.Ile169Met)
n.2873T>G
c.-1735T>G (n.-1735T>G)
c.214T>G
c.75T>G (p.Ile25Met)
c.540T>G (p.Ile180Met)
13g.23358423A>GCA482922253SACSc.516T>C (p.Ile172=)
n.654T>C
c.507T>C (p.Ile169=)
n.2873T>C
c.-1735T>C (n.-1735T>C)
c.214T>C
c.75T>C (p.Ile25=)
c.540T>C (p.Ile180=)
13g.23358423A>TCA482922256SACSc.516T>A (p.Ile172=)
n.654T>A
c.507T>A (p.Ile169=)
n.2873T>A
c.-1735T>A (n.-1735T>A)
c.214T>A
c.75T>A (p.Ile25=)
c.540T>A (p.Ile180=)
13g.23358424A>CCA387552066SACSc.515T>G (p.Ile172Ser)
n.653T>G
c.506T>G (p.Ile169Ser)
n.2872T>G
c.-1736T>G (n.-1736T>G)
c.213T>G
c.74T>G (p.Ile25Ser)
c.539T>G (p.Ile180Ser)
13g.23358424A>GCA387552067SACSc.515T>C (p.Ile172Thr)
n.653T>C
c.506T>C (p.Ile169Thr)
n.2872T>C
c.-1736T>C (n.-1736T>C)
c.213T>C
c.74T>C (p.Ile25Thr)
c.539T>C (p.Ile180Thr)
13g.23358424A>TCA387552068SACSc.515T>A (p.Ile172Asn)
n.653T>A
c.506T>A (p.Ile169Asn)
n.2872T>A
c.-1736T>A (n.-1736T>A)
c.213T>A
c.74T>A (p.Ile25Asn)
c.539T>A (p.Ile180Asn)
13g.23358425T>ACA387552069SACSc.514A>T (p.Ile172Phe)
n.652A>T
c.505A>T (p.Ile169Phe)
n.2871A>T
c.-1737A>T (n.-1737A>T)
c.212A>T
c.73A>T (p.Ile25Phe)
c.538A>T (p.Ile180Phe)
13g.23358425T>CCA387552070SACSc.514A>G (p.Ile172Val)
n.652A>G
c.505A>G (p.Ile169Val)
n.2871A>G
c.-1737A>G (n.-1737A>G)
c.212A>G
c.73A>G (p.Ile25Val)
c.538A>G (p.Ile180Val)
13g.23358425T>GCA387552071SACSc.514A>C (p.Ile172Leu)
n.652A>C
c.505A>C (p.Ile169Leu)
n.2871A>C
c.-1737A>C (n.-1737A>C)
c.212A>C
c.73A>C (p.Ile25Leu)
c.538A>C (p.Ile180Leu)
13g.23358426G>ACA482922267SACSc.513C>T (p.Gly171=)
n.651C>T
c.504C>T (p.Gly168=)
n.2870C>T
c.-1738C>T (n.-1738C>T)
c.211C>T
c.72C>T (p.Gly24=)
c.537C>T (p.Gly179=)
13g.23358426G>CCA482922265SACSc.513C>G (p.Gly171=)
n.651C>G
c.504C>G (p.Gly168=)
n.2870C>G
c.-1738C>G (n.-1738C>G)
c.211C>G
c.72C>G (p.Gly24=)
c.537C>G (p.Gly179=)
13g.23358426G>TCA482922264SACSc.513C>A (p.Gly171=)
n.651C>A
c.504C>A (p.Gly168=)
n.2870C>A
c.-1738C>A (n.-1738C>A)
c.211C>A
c.72C>A (p.Gly24=)
c.537C>A (p.Gly179=)
 COSMIC COSMIC
13g.23358427C>ACA387552072SACSc.512G>T (p.Gly171Val)
n.650G>T
c.503G>T (p.Gly168Val)
n.2869G>T
c.-1739G>T (n.-1739G>T)
c.210G>T
c.71G>T (p.Gly24Val)
c.536G>T (p.Gly179Val)
 COSMIC
13g.23358427C=CA2078636492SACSc.512G= (p.Gly171=)
n.650G=
c.503G= (p.Gly168=)
n.2869G=
c.-1739G= (n.-1739G=)
c.210G=
c.71G= (p.Gly24=)
c.536G= (p.Gly179=)
13g.23358427C>GCA387552073SACSc.512G>C (p.Gly171Ala)
n.650G>C
c.503G>C (p.Gly168Ala)
n.2869G>C
c.-1739G>C (n.-1739G>C)
c.210G>C
c.71G>C (p.Gly24Ala)
c.536G>C (p.Gly179Ala)
13g.23358427C>TCA246680344SACSc.512G>A (p.Gly171Asp)
n.650G>A
c.503G>A (p.Gly168Asp)
n.2869G>A
c.-1739G>A (n.-1739G>A)
c.210G>A
c.71G>A (p.Gly24Asp)
c.536G>A (p.Gly179Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.23358428C>ACA387552074SACSc.511G>T (p.Gly171Cys)
n.649G>T
c.502G>T (p.Gly168Cys)
n.2868G>T
c.-1740G>T (n.-1740G>T)
c.209G>T
c.70G>T (p.Gly24Cys)
c.535G>T (p.Gly179Cys)
13g.23358428C=CA2078636496SACSc.511G= (p.Gly171=)
n.649G=
c.502G= (p.Gly168=)
n.2868G=
c.-1740G= (n.-1740G=)
c.209G=
c.70G= (p.Gly24=)
c.535G= (p.Gly179=)
13g.23358428C>GCA387552075SACSc.511G>C (p.Gly171Arg)
n.649G>C
c.502G>C (p.Gly168Arg)
n.2868G>C
c.-1740G>C (n.-1740G>C)
c.209G>C
c.70G>C (p.Gly24Arg)
c.535G>C (p.Gly179Arg)
13g.23358428C>TCA387552076SACSc.511G>A (p.Gly171Ser)
n.649G>A
c.502G>A (p.Gly168Ser)
n.2868G>A
c.-1740G>A (n.-1740G>A)
c.209G>A
c.70G>A (p.Gly24Ser)
c.535G>A (p.Gly179Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.23358429G>ACA6912062SACSc.510C>T (p.His170=)
n.648C>T
c.501C>T (p.His167=)
n.2867C>T
c.-1741C>T (n.-1741C>T)
c.208C>T
c.69C>T (p.His23=)
c.534C>T (p.His178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358429G>CCA387552078SACSc.510C>G (p.His170Gln)
n.648C>G
c.501C>G (p.His167Gln)
n.2867C>G
c.-1741C>G (n.-1741C>G)
c.208C>G
c.69C>G (p.His23Gln)
c.534C>G (p.His178Gln)
13g.23358429G=CA2078636499SACSc.510C= (p.His170=)
n.648C=
c.501C= (p.His167=)
n.2867C=
c.-1741C= (n.-1741C=)
c.208C=
c.69C= (p.His23=)
c.534C= (p.His178=)
13g.23358429G>TCA387552077SACSc.510C>A (p.His170Gln)
n.648C>A
c.501C>A (p.His167Gln)
n.2867C>A
c.-1741C>A (n.-1741C>A)
c.208C>A
c.69C>A (p.His23Gln)
c.534C>A (p.His178Gln)
13g.23358432_23358447delCA2622331459SACSc.495_510del (p.Pro166AlafsTer5)
n.633_648del
c.486_501del (p.Pro163AlafsTer5)
n.2852_2867del
c.-1756_-1741del (n.-1756_-1741del)
c.193_208del
c.54_69del (p.Pro19AlafsTer5)
c.519_534del (p.Pro174AlafsTer5)
 gnomAD v4
13g.23358430T>ACA387552079SACSc.509A>T (p.His170Leu)
n.647A>T
c.500A>T (p.His167Leu)
n.2866A>T
c.-1742A>T (n.-1742A>T)
c.207A>T
c.68A>T (p.His23Leu)
c.533A>T (p.His178Leu)
13g.23358430T>CCA387552080SACSc.509A>G (p.His170Arg)
n.647A>G
c.500A>G (p.His167Arg)
n.2866A>G
c.-1742A>G (n.-1742A>G)
c.207A>G
c.68A>G (p.His23Arg)
c.533A>G (p.His178Arg)
13g.23358430T>GCA387552081SACSc.509A>C (p.His170Pro)
n.647A>C
c.500A>C (p.His167Pro)
n.2866A>C
c.-1742A>C (n.-1742A>C)
c.207A>C
c.68A>C (p.His23Pro)
c.533A>C (p.His178Pro)
13g.23358431G>ACA387552082SACSc.508C>T (p.His170Tyr)
n.646C>T
c.499C>T (p.His167Tyr)
n.2865C>T
c.-1743C>T (n.-1743C>T)
c.206C>T
c.67C>T (p.His23Tyr)
c.532C>T (p.His178Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.23358431G>CCA387552083SACSc.508C>G (p.His170Asp)
n.646C>G
c.499C>G (p.His167Asp)
n.2865C>G
c.-1743C>G (n.-1743C>G)
c.206C>G
c.67C>G (p.His23Asp)
c.532C>G (p.His178Asp)
13g.23358431G=CA2078636503SACSc.508C= (p.His170=)
n.646C=
c.499C= (p.His167=)
n.2865C=
c.-1743C= (n.-1743C=)
c.206C=
c.67C= (p.His23=)
c.532C= (p.His178=)
13g.23358431G>TCA387552084SACSc.508C>A (p.His170Asn)
n.646C>A
c.499C>A (p.His167Asn)
n.2865C>A
c.-1743C>A (n.-1743C>A)
c.206C>A
c.67C>A (p.His23Asn)
c.532C>A (p.His178Asn)
13g.23358432C>ACA387552085SACSc.507G>T (p.Trp169Cys)
n.645G>T
c.498G>T (p.Trp166Cys)
n.2864G>T
c.-1744G>T (n.-1744G>T)
c.205G>T
c.66G>T (p.Trp22Cys)
c.531G>T (p.Trp177Cys)
13g.23358432C>GCA387552086SACSc.507G>C (p.Trp169Cys)
n.645G>C
c.498G>C (p.Trp166Cys)
n.2864G>C
c.-1744G>C (n.-1744G>C)
c.205G>C
c.66G>C (p.Trp22Cys)
c.531G>C (p.Trp177Cys)
13g.23358432C>TCA387552087SACSc.507G>A (p.Trp169Ter)
n.645G>A
c.498G>A (p.Trp166Ter)
n.2864G>A
c.-1744G>A (n.-1744G>A)
c.205G>A
c.66G>A (p.Trp22Ter)
c.531G>A (p.Trp177Ter)
 gnomAD v4
13g.23358433delCA2622331460SACSc.507del (p.Trp169CysfsTer7)
n.645del
c.498del (p.Trp166CysfsTer7)
n.2864del
c.-1744del (n.-1744del)
c.205del
c.66del (p.Trp22CysfsTer7)
c.531del (p.Trp177CysfsTer7)
 gnomAD v4
13g.23358433C>ACA387552088SACSc.506G>T (p.Trp169Leu)
n.644G>T
c.497G>T (p.Trp166Leu)
n.2863G>T
c.-1745G>T (n.-1745G>T)
c.204G>T
c.65G>T (p.Trp22Leu)
c.530G>T (p.Trp177Leu)
13g.23358433C>GCA387552089SACSc.506G>C (p.Trp169Ser)
n.644G>C
c.497G>C (p.Trp166Ser)
n.2863G>C
c.-1745G>C (n.-1745G>C)
c.204G>C
c.65G>C (p.Trp22Ser)
c.530G>C (p.Trp177Ser)
13g.23358433C>TCA387552090SACSc.506G>A (p.Trp169Ter)
n.644G>A
c.497G>A (p.Trp166Ter)
n.2863G>A
c.-1745G>A (n.-1745G>A)
c.204G>A
c.65G>A (p.Trp22Ter)
c.530G>A (p.Trp177Ter)
13g.23358434A>CCA387552092SACSc.505T>G (p.Trp169Gly)
n.643T>G
c.496T>G (p.Trp166Gly)
n.2862T>G
c.-1746T>G (n.-1746T>G)
c.203T>G
c.64T>G (p.Trp22Gly)
c.529T>G (p.Trp177Gly)
13g.23358434A>GCA387552093SACSc.505T>C (p.Trp169Arg)
n.643T>C
c.496T>C (p.Trp166Arg)
n.2862T>C
c.-1746T>C (n.-1746T>C)
c.203T>C
c.64T>C (p.Trp22Arg)
c.529T>C (p.Trp177Arg)
13g.23358434A>TCA387552091SACSc.505T>A (p.Trp169Arg)
n.643T>A
c.496T>A (p.Trp166Arg)
n.2862T>A
c.-1746T>A (n.-1746T>A)
c.203T>A
c.64T>A (p.Trp22Arg)
c.529T>A (p.Trp177Arg)
13g.23358435G>ACA482922299SACSc.504C>T (p.Asp168=)
n.642C>T
c.495C>T (p.Asp165=)
n.2861C>T
c.-1747C>T (n.-1747C>T)
c.202C>T
c.63C>T (p.Asp21=)
c.528C>T (p.Asp176=)
13g.23358435G>CCA387552094SACSc.504C>G (p.Asp168Glu)
n.642C>G
c.495C>G (p.Asp165Glu)
n.2861C>G
c.-1747C>G (n.-1747C>G)
c.202C>G
c.63C>G (p.Asp21Glu)
c.528C>G (p.Asp176Glu)
13g.23358435G>TCA387552095SACSc.504C>A (p.Asp168Glu)
n.642C>A
c.495C>A (p.Asp165Glu)
n.2861C>A
c.-1747C>A (n.-1747C>A)
c.202C>A
c.63C>A (p.Asp21Glu)
c.528C>A (p.Asp176Glu)
13g.23358436T>ACA387552096SACSc.503A>T (p.Asp168Val)
n.641A>T
c.494A>T (p.Asp165Val)
n.2860A>T
c.-1748A>T (n.-1748A>T)
c.201A>T
c.62A>T (p.Asp21Val)
c.527A>T (p.Asp176Val)
13g.23358436T>CCA387552097SACSc.503A>G (p.Asp168Gly)
n.641A>G
c.494A>G (p.Asp165Gly)
n.2860A>G
c.-1748A>G (n.-1748A>G)
c.201A>G
c.62A>G (p.Asp21Gly)
c.527A>G (p.Asp176Gly)
13g.23358436T>GCA387552098SACSc.503A>C (p.Asp168Ala)
n.641A>C
c.494A>C (p.Asp165Ala)
n.2860A>C
c.-1748A>C (n.-1748A>C)
c.201A>C
c.62A>C (p.Asp21Ala)
c.527A>C (p.Asp176Ala)
13g.23358437C>ACA387552101SACSc.502G>T (p.Asp168Tyr)
n.640G>T
c.493G>T (p.Asp165Tyr)
n.2859G>T
c.-1749G>T (n.-1749G>T)
c.200G>T
c.61G>T (p.Asp21Tyr)
c.526G>T (p.Asp176Tyr)
 gnomAD v4
13g.23358437C>GCA387552099SACSc.502G>C (p.Asp168His)
n.640G>C
c.493G>C (p.Asp165His)
n.2859G>C
c.-1749G>C (n.-1749G>C)
c.200G>C
c.61G>C (p.Asp21His)
c.526G>C (p.Asp176His)
13g.23358437C>TCA387552100SACSc.502G>A (p.Asp168Asn)
n.640G>A
c.493G>A (p.Asp165Asn)
n.2859G>A
c.-1749G>A (n.-1749G>A)
c.200G>A
c.61G>A (p.Asp21Asn)
c.526G>A (p.Asp176Asn)
13g.23358438C>ACA387552102SACSc.501G>T (p.Glu167Asp)
n.639G>T
c.492G>T (p.Glu164Asp)
n.2858G>T
c.-1750G>T (n.-1750G>T)
c.199G>T
c.60G>T (p.Glu20Asp)
c.525G>T (p.Glu175Asp)
13g.23358438C=CA2078636508SACSc.501G= (p.Glu167=)
n.639G=
c.492G= (p.Glu164=)
n.2858G=
c.-1750G= (n.-1750G=)
c.199G=
c.60G= (p.Glu20=)
c.525G= (p.Glu175=)
13g.23358438C>GCA387552103SACSc.501G>C (p.Glu167Asp)
n.639G>C
c.492G>C (p.Glu164Asp)
n.2858G>C
c.-1750G>C (n.-1750G>C)
c.199G>C
c.60G>C (p.Glu20Asp)
c.525G>C (p.Glu175Asp)
 dbSNP gnomAD v4
13g.23358438C>TCA482922322SACSc.501G>A (p.Glu167=)
n.639G>A
c.492G>A (p.Glu164=)
n.2858G>A
c.-1750G>A (n.-1750G>A)
c.199G>A
c.60G>A (p.Glu20=)
c.525G>A (p.Glu175=)
13g.23358439T>ACA387552104SACSc.500A>T (p.Glu167Val)
n.638A>T
c.491A>T (p.Glu164Val)
n.2857A>T
c.-1751A>T (n.-1751A>T)
c.198A>T
c.59A>T (p.Glu20Val)
c.524A>T (p.Glu175Val)
13g.23358439T>CCA387552105SACSc.500A>G (p.Glu167Gly)
n.638A>G
c.491A>G (p.Glu164Gly)
n.2857A>G
c.-1751A>G (n.-1751A>G)
c.198A>G
c.59A>G (p.Glu20Gly)
c.524A>G (p.Glu175Gly)
13g.23358439T>GCA387552106SACSc.500A>C (p.Glu167Ala)
n.638A>C
c.491A>C (p.Glu164Ala)
n.2857A>C
c.-1751A>C (n.-1751A>C)
c.198A>C
c.59A>C (p.Glu20Ala)
c.524A>C (p.Glu175Ala)
13g.23358440C>ACA387552107SACSc.499G>T (p.Glu167Ter)
n.637G>T
c.490G>T (p.Glu164Ter)
n.2856G>T
c.-1752G>T (n.-1752G>T)
c.197G>T
c.58G>T (p.Glu20Ter)
c.523G>T (p.Glu175Ter)
13g.23358440C>GCA387552109SACSc.499G>C (p.Glu167Gln)
n.637G>C
c.490G>C (p.Glu164Gln)
n.2856G>C
c.-1752G>C (n.-1752G>C)
c.197G>C
c.58G>C (p.Glu20Gln)
c.523G>C (p.Glu175Gln)
13g.23358440C>TCA387552108SACSc.499G>A (p.Glu167Lys)
n.637G>A
c.490G>A (p.Glu164Lys)
n.2856G>A
c.-1752G>A (n.-1752G>A)
c.197G>A
c.58G>A (p.Glu20Lys)
c.523G>A (p.Glu175Lys)
13g.23358441T>ACA482922331SACSc.498A>T (p.Pro166=)
n.636A>T
c.489A>T (p.Pro163=)
n.2855A>T
c.-1753A>T (n.-1753A>T)
c.196A>T
c.57A>T (p.Pro19=)
c.522A>T (p.Pro174=)
13g.23358441T>CCA482922332SACSc.498A>G (p.Pro166=)
n.636A>G
c.489A>G (p.Pro163=)
n.2855A>G
c.-1753A>G (n.-1753A>G)
c.196A>G
c.57A>G (p.Pro19=)
c.522A>G (p.Pro174=)
 ClinVar dbSNP gnomAD v4
13g.23358441T>GCA482922335SACSc.498A>C (p.Pro166=)
n.636A>C
c.489A>C (p.Pro163=)
n.2855A>C
c.-1753A>C (n.-1753A>C)
c.196A>C
c.57A>C (p.Pro19=)
c.522A>C (p.Pro174=)
13g.23358441T=CA2078636510SACSc.498A= (p.Pro166=)
n.636A=
c.489A= (p.Pro163=)
n.2855A=
c.-1753A= (n.-1753A=)
c.196A=
c.57A= (p.Pro19=)
c.522A= (p.Pro174=)
13g.23358442G>ACA6912063SACSc.497C>T (p.Pro166Leu)
n.635C>T
c.488C>T (p.Pro163Leu)
n.2854C>T
c.-1754C>T (n.-1754C>T)
c.195C>T
c.56C>T (p.Pro19Leu)
c.521C>T (p.Pro174Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.23358442G>CCA387552111SACSc.497C>G (p.Pro166Arg)
n.635C>G
c.488C>G (p.Pro163Arg)
n.2854C>G
c.-1754C>G (n.-1754C>G)
c.195C>G
c.56C>G (p.Pro19Arg)
c.521C>G (p.Pro174Arg)
13g.23358442G=CA2078636512SACSc.497C= (p.Pro166=)
n.635C=
c.488C= (p.Pro163=)
n.2854C=
c.-1754C= (n.-1754C=)
c.195C=
c.56C= (p.Pro19=)
c.521C= (p.Pro174=)
13g.23358442G>TCA387552110SACSc.497C>A (p.Pro166Gln)
n.635C>A
c.488C>A (p.Pro163Gln)
n.2854C>A
c.-1754C>A (n.-1754C>A)
c.195C>A
c.56C>A (p.Pro19Gln)
c.521C>A (p.Pro174Gln)
13g.23358445delCA2580086883SACSc.497del (p.Pro166GlnfsTer10)
n.635del
c.488del (p.Pro163GlnfsTer10)
n.2854del
c.-1754del (n.-1754del)
c.195del
c.56del (p.Pro19GlnfsTer10)
c.521del (p.Pro174GlnfsTer10)
 ClinVar
13g.23358443G>ACA387552112SACSc.496C>T (p.Pro166Ser)
n.634C>T
c.487C>T (p.Pro163Ser)
n.2853C>T
c.-1755C>T (n.-1755C>T)
c.194C>T
c.55C>T (p.Pro19Ser)
c.520C>T (p.Pro174Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.23358443G>CCA387552114SACSc.496C>G (p.Pro166Ala)
n.634C>G
c.487C>G (p.Pro163Ala)
n.2853C>G
c.-1755C>G (n.-1755C>G)
c.194C>G
c.55C>G (p.Pro19Ala)
c.520C>G (p.Pro174Ala)
13g.23358443G=CA2078636514SACSc.496C= (p.Pro166=)
n.634C=
c.487C= (p.Pro163=)
n.2853C=
c.-1755C= (n.-1755C=)
c.194C=
c.55C= (p.Pro19=)
c.520C= (p.Pro174=)
13g.23358443G>TCA387552113SACSc.496C>A (p.Pro166Thr)
n.634C>A
c.487C>A (p.Pro163Thr)
n.2853C>A
c.-1755C>A (n.-1755C>A)
c.194C>A
c.55C>A (p.Pro19Thr)
c.520C>A (p.Pro174Thr)
13g.23358444G>ACA482922340SACSc.495C>T (p.Thr165=)
n.633C>T
c.486C>T (p.Thr162=)
n.2852C>T
c.-1756C>T (n.-1756C>T)
c.193C>T
c.54C>T (p.Thr18=)
c.519C>T (p.Thr173=)
 ClinVar dbSNP
13g.23358444G>CCA482922342SACSc.495C>G (p.Thr165=)
n.633C>G
c.486C>G (p.Thr162=)
n.2852C>G
c.-1756C>G (n.-1756C>G)
c.193C>G
c.54C>G (p.Thr18=)
c.519C>G (p.Thr173=)
13g.23358444G>TCA482922344SACSc.495C>A (p.Thr165=)
n.633C>A
c.486C>A (p.Thr162=)
n.2852C>A
c.-1756C>A (n.-1756C>A)
c.193C>A
c.54C>A (p.Thr18=)
c.519C>A (p.Thr173=)
13g.23358445G>ACA387552115SACSc.494C>T (p.Thr165Ile)
n.632C>T
c.485C>T (p.Thr162Ile)
n.2851C>T
c.-1757C>T (n.-1757C>T)
c.192C>T
c.53C>T (p.Thr18Ile)
c.518C>T (p.Thr173Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.23358445G>CCA387552116SACSc.494C>G (p.Thr165Ser)
n.632C>G
c.485C>G (p.Thr162Ser)
n.2851C>G
c.-1757C>G (n.-1757C>G)
c.192C>G
c.53C>G (p.Thr18Ser)
c.518C>G (p.Thr173Ser)
13g.23358445G=CA2078636517SACSc.494C= (p.Thr165=)
n.632C=
c.485C= (p.Thr162=)
n.2851C=
c.-1757C= (n.-1757C=)
c.192C=
c.53C= (p.Thr18=)
c.518C= (p.Thr173=)
13g.23358445G>TCA387552117SACSc.494C>A (p.Thr165Asn)
n.632C>A
c.485C>A (p.Thr162Asn)
n.2851C>A
c.-1757C>A (n.-1757C>A)
c.192C>A
c.53C>A (p.Thr18Asn)
c.518C>A (p.Thr173Asn)
 gnomAD v4
13g.23358446T>ACA387552118SACSc.493A>T (p.Thr165Ser)
n.631A>T
c.484A>T (p.Thr162Ser)
n.2850A>T
c.-1758A>T (n.-1758A>T)
c.191A>T
c.52A>T (p.Thr18Ser)
c.517A>T (p.Thr173Ser)
13g.23358446T>CCA387552119SACSc.493A>G (p.Thr165Ala)
n.631A>G
c.484A>G (p.Thr162Ala)
n.2850A>G
c.-1758A>G (n.-1758A>G)
c.191A>G
c.52A>G (p.Thr18Ala)
c.517A>G (p.Thr173Ala)
13g.23358446T>GCA387552120SACSc.493A>C (p.Thr165Pro)
n.631A>C
c.484A>C (p.Thr162Pro)
n.2850A>C
c.-1758A>C (n.-1758A>C)
c.191A>C
c.52A>C (p.Thr18Pro)
c.517A>C (p.Thr173Pro)
13g.23358447G>ACA482922351SACSc.492C>T (p.Phe164=)
n.630C>T
c.483C>T (p.Phe161=)
n.2849C>T
c.-1759C>T (n.-1759C>T)
c.190C>T
c.51C>T (p.Phe17=)
c.516C>T (p.Phe172=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.23358447G>CCA387552121SACSc.492C>G (p.Phe164Leu)
n.630C>G
c.483C>G (p.Phe161Leu)
n.2849C>G
c.-1759C>G (n.-1759C>G)
c.190C>G
c.51C>G (p.Phe17Leu)
c.516C>G (p.Phe172Leu)
13g.23358447G=CA2078636521SACSc.492C= (p.Phe164=)
n.630C=
c.483C= (p.Phe161=)
n.2849C=
c.-1759C= (n.-1759C=)
c.190C=
c.51C= (p.Phe17=)
c.516C= (p.Phe172=)
13g.23358447G>TCA6912064SACSc.492C>A (p.Phe164Leu)
n.630C>A
c.483C>A (p.Phe161Leu)
n.2849C>A
c.-1759C>A (n.-1759C>A)
c.190C>A
c.51C>A (p.Phe17Leu)
c.516C>A (p.Phe172Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.23358448A>CCA387552122SACSc.491T>G (p.Phe164Cys)
n.629T>G
c.482T>G (p.Phe161Cys)
n.2848T>G
c.-1760T>G (n.-1760T>G)
c.189T>G
c.50T>G (p.Phe17Cys)
c.515T>G (p.Phe172Cys)
13g.23358448A>GCA387552123SACSc.491T>C (p.Phe164Ser)
n.629T>C
c.482T>C (p.Phe161Ser)
n.2848T>C
c.-1760T>C (n.-1760T>C)
c.189T>C
c.50T>C (p.Phe17Ser)
c.515T>C (p.Phe172Ser)
13g.23358448A>TCA387552124SACSc.491T>A (p.Phe164Tyr)
n.629T>A
c.482T>A (p.Phe161Tyr)
n.2848T>A
c.-1760T>A (n.-1760T>A)
c.189T>A
c.50T>A (p.Phe17Tyr)
c.515T>A (p.Phe172Tyr)
13g.23358449A>CCA387552125SACSc.490T>G (p.Phe164Val)
n.628T>G
c.481T>G (p.Phe161Val)
n.2847T>G
c.-1761T>G (n.-1761T>G)
c.188T>G
c.49T>G (p.Phe17Val)
c.514T>G (p.Phe172Val)
13g.23358449A>GCA387552126SACSc.490T>C (p.Phe164Leu)
n.628T>C
c.481T>C (p.Phe161Leu)
n.2847T>C
c.-1761T>C (n.-1761T>C)
c.188T>C
c.49T>C (p.Phe17Leu)
c.514T>C (p.Phe172Leu)
13g.23358449A>TCA387552127SACSc.490T>A (p.Phe164Ile)
n.628T>A
c.481T>A (p.Phe161Ile)
n.2847T>A
c.-1761T>A (n.-1761T>A)
c.188T>A
c.49T>A (p.Phe17Ile)
c.514T>A (p.Phe172Ile)
13g.23358450A>CCA482922365SACSc.489T>G (p.Val163=)
n.627T>G
c.480T>G (p.Val160=)
n.2846T>G
c.-1762T>G (n.-1762T>G)
c.187T>G
c.48T>G (p.Val16=)
c.513T>G (p.Val171=)
13g.23358450A>GCA482922367SACSc.489T>C (p.Val163=)
n.627T>C
c.480T>C (p.Val160=)
n.2846T>C
c.-1762T>C (n.-1762T>C)
c.187T>C
c.48T>C (p.Val16=)
c.513T>C (p.Val171=)
 COSMIC COSMIC
13g.23358450A>TCA482922369SACSc.489T>A (p.Val163=)
n.627T>A
c.480T>A (p.Val160=)
n.2846T>A
c.-1762T>A (n.-1762T>A)
c.187T>A
c.48T>A (p.Val16=)
c.513T>A (p.Val171=)
13g.23358451A=CA2078636525SACSc.488T= (p.Val163=)
n.626T=
c.479T= (p.Val160=)
n.2845T=
c.-1763T= (n.-1763T=)
c.186T=
c.47T= (p.Val16=)
c.512T= (p.Val171=)
13g.23358451A>CCA6912065SACSc.488T>G (p.Val163Gly)
n.626T>G
c.479T>G (p.Val160Gly)
n.2845T>G
c.-1763T>G (n.-1763T>G)
c.186T>G
c.47T>G (p.Val16Gly)
c.512T>G (p.Val171Gly)
 dbSNP ExAC
13g.23358451A>GCA387552129SACSc.488T>C (p.Val163Ala)
n.626T>C
c.479T>C (p.Val160Ala)
n.2845T>C
c.-1763T>C (n.-1763T>C)
c.186T>C
c.47T>C (p.Val16Ala)
c.512T>C (p.Val171Ala)
 COSMIC COSMIC
13g.23358451A>TCA387552128SACSc.488T>A (p.Val163Asp)
n.626T>A
c.479T>A (p.Val160Asp)
n.2845T>A
c.-1763T>A (n.-1763T>A)
c.186T>A
c.47T>A (p.Val16Asp)
c.512T>A (p.Val171Asp)
13g.23358452C>ACA387552130SACSc.487G>T (p.Val163Phe)
n.625G>T
c.478G>T (p.Val160Phe)
n.2844G>T
c.-1764G>T (n.-1764G>T)
c.185G>T
c.46G>T (p.Val16Phe)
c.511G>T (p.Val171Phe)
13g.23358452C>GCA387552131SACSc.487G>C (p.Val163Leu)
n.625G>C
c.478G>C (p.Val160Leu)
n.2844G>C
c.-1764G>C (n.-1764G>C)
c.185G>C
c.46G>C (p.Val16Leu)
c.511G>C (p.Val171Leu)
13g.23358452C>TCA387552132SACSc.487G>A (p.Val163Ile)
n.625G>A
c.478G>A (p.Val160Ile)
n.2844G>A
c.-1764G>A (n.-1764G>A)
c.185G>A
c.46G>A (p.Val16Ile)
c.511G>A (p.Val171Ile)
 gnomAD v4
13g.23358453C>ACA6912067SACSc.486G>T (p.Ala162=)
n.624G>T
c.477G>T (p.Ala159=)
n.2843G>T
c.-1765G>T (n.-1765G>T)
c.184G>T
c.45G>T (p.Ala15=)
c.510G>T (p.Ala170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358453C=CA2078636528SACSc.486G= (p.Ala162=)
n.624G=
c.477G= (p.Ala159=)
n.2843G=
c.-1765G= (n.-1765G=)
c.184G=
c.45G= (p.Ala15=)
c.510G= (p.Ala170=)
13g.23358453C>GCA482922379SACSc.486G>C (p.Ala162=)
n.624G>C
c.477G>C (p.Ala159=)
n.2843G>C
c.-1765G>C (n.-1765G>C)
c.184G>C
c.45G>C (p.Ala15=)
c.510G>C (p.Ala170=)
13g.23358453C>TCA6912066SACSc.486G>A (p.Ala162=)
n.624G>A
c.477G>A (p.Ala159=)
n.2843G>A
c.-1765G>A (n.-1765G>A)
c.184G>A
c.45G>A (p.Ala15=)
c.510G>A (p.Ala170=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.23358454G>ACA6912068SACSc.485C>T (p.Ala162Val)
n.623C>T
c.476C>T (p.Ala159Val)
n.2842C>T
c.-1766C>T (n.-1766C>T)
c.183C>T
c.44C>T (p.Ala15Val)
c.509C>T (p.Ala170Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358454G>CCA387552133SACSc.485C>G (p.Ala162Gly)
n.623C>G
c.476C>G (p.Ala159Gly)
n.2842C>G
c.-1766C>G (n.-1766C>G)
c.183C>G
c.44C>G (p.Ala15Gly)
c.509C>G (p.Ala170Gly)
13g.23358454G=CA2078636533SACSc.485C= (p.Ala162=)
n.623C=
c.476C= (p.Ala159=)
n.2842C=
c.-1766C= (n.-1766C=)
c.183C=
c.44C= (p.Ala15=)
c.509C= (p.Ala170=)
13g.23358454G>TCA387552134SACSc.485C>A (p.Ala162Glu)
n.623C>A
c.476C>A (p.Ala159Glu)
n.2842C>A
c.-1766C>A (n.-1766C>A)
c.183C>A
c.44C>A (p.Ala15Glu)
c.509C>A (p.Ala170Glu)
13g.23358455C>ACA387552135SACSc.484G>T (p.Ala162Ser)
n.622G>T
c.475G>T (p.Ala159Ser)
n.2841G>T
c.-1767G>T (n.-1767G>T)
c.182G>T
c.43G>T (p.Ala15Ser)
c.508G>T (p.Ala170Ser)
13g.23358455C=CA2078636535SACSc.484G= (p.Ala162=)
n.622G=
c.475G= (p.Ala159=)
n.2841G=
c.-1767G= (n.-1767G=)
c.182G=
c.43G= (p.Ala15=)
c.508G= (p.Ala170=)
13g.23358455C>GCA387552136SACSc.484G>C (p.Ala162Pro)
n.622G>C
c.475G>C (p.Ala159Pro)
n.2841G>C
c.-1767G>C (n.-1767G>C)
c.182G>C
c.43G>C (p.Ala15Pro)
c.508G>C (p.Ala170Pro)
 gnomAD v4
13g.23358455C>TCA6912069SACSc.484G>A (p.Ala162Thr)
n.622G>A
c.475G>A (p.Ala159Thr)
n.2841G>A
c.-1767G>A (n.-1767G>A)
c.182G>A
c.43G>A (p.Ala15Thr)
c.508G>A (p.Ala170Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358456G>ACA6912070SACSc.483C>T (p.Asn161=)
n.621C>T
c.474C>T (p.Asn158=)
n.2840C>T
c.-1768C>T (n.-1768C>T)
c.181C>T
c.42C>T (p.Asn14=)
c.507C>T (p.Asn169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.23358456G>CCA387552137SACSc.483C>G (p.Asn161Lys)
n.621C>G
c.474C>G (p.Asn158Lys)
n.2840C>G
c.-1768C>G (n.-1768C>G)
c.181C>G
c.42C>G (p.Asn14Lys)
c.507C>G (p.Asn169Lys)
13g.23358456G=CA2078636540SACSc.483C= (p.Asn161=)
n.621C=
c.474C= (p.Asn158=)
n.2840C=
c.-1768C= (n.-1768C=)
c.181C=
c.42C= (p.Asn14=)
c.507C= (p.Asn169=)
13g.23358456G>TCA387552138SACSc.483C>A (p.Asn161Lys)
n.621C>A
c.474C>A (p.Asn158Lys)
n.2840C>A
c.-1768C>A (n.-1768C>A)
c.181C>A
c.42C>A (p.Asn14Lys)
c.507C>A (p.Asn169Lys)
 gnomAD v4 COSMIC COSMIC
13g.23358461_23358463delCA2832782356SACSc.481_483del (p.Asn161del)
n.619_621del
c.472_474del (p.Asn158del)
n.2838_2840del
c.-1770_-1768del (n.-1770_-1768del)
c.179_181del
c.40_42del (p.Asn14del)
c.505_507del (p.Asn169del)
13g.23358457T>ACA387552140SACSc.482A>T (p.Asn161Ile)
n.620A>T
c.473A>T (p.Asn158Ile)
n.2839A>T
c.-1769A>T (n.-1769A>T)
c.180A>T
c.41A>T (p.Asn14Ile)
c.506A>T (p.Asn169Ile)
13g.23358457T>CCA6912071SACSc.482A>G (p.Asn161Ser)
n.620A>G
c.473A>G (p.Asn158Ser)
n.2839A>G
c.-1769A>G (n.-1769A>G)
c.180A>G
c.41A>G (p.Asn14Ser)
c.506A>G (p.Asn169Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23358457T>GCA387552139SACSc.482A>C (p.Asn161Thr)
n.620A>C
c.473A>C (p.Asn158Thr)
n.2839A>C
c.-1769A>C (n.-1769A>C)
c.180A>C
c.41A>C (p.Asn14Thr)
c.506A>C (p.Asn169Thr)
13g.23358457T=CA2078636547SACSc.482A= (p.Asn161=)
n.620A=
c.473A= (p.Asn158=)
n.2839A=
c.-1769A= (n.-1769A=)
c.180A=
c.41A= (p.Asn14=)
c.506A= (p.Asn169=)
13g.23358458delCA2695217767SACSc.482del (p.Asn161ThrfsTer15)
n.620del
c.473del (p.Asn158ThrfsTer15)
n.2839del
c.-1769del (n.-1769del)
c.180del
c.41del (p.Asn14ThrfsTer15)
c.506del (p.Asn169ThrfsTer15)
13g.23358458T>ACA387552141SACSc.481A>T (p.Asn161Tyr)
n.619A>T
c.472A>T (p.Asn158Tyr)
n.2838A>T
c.-1770A>T (n.-1770A>T)
c.179A>T
c.40A>T (p.Asn14Tyr)
c.505A>T (p.Asn169Tyr)
13g.23358458T>CCA387552142SACSc.481A>G (p.Asn161Asp)
n.619A>G
c.472A>G (p.Asn158Asp)
n.2838A>G
c.-1770A>G (n.-1770A>G)
c.179A>G
c.40A>G (p.Asn14Asp)
c.505A>G (p.Asn169Asp)
13g.23358458T>GCA387552143SACSc.481A>C (p.Asn161His)
n.619A>C
c.472A>C (p.Asn158His)
n.2838A>C
c.-1770A>C (n.-1770A>C)
c.179A>C
c.40A>C (p.Asn14His)
c.505A>C (p.Asn169His)
13g.23358459G>ACA482922402SACSc.480C>T (p.Asn160=)
n.618C>T
c.471C>T (p.Asn157=)
n.2837C>T
c.-1771C>T (n.-1771C>T)
c.178C>T
c.39C>T (p.Asn13=)
c.504C>T (p.Asn168=)
13g.23358459G>CCA387552144SACSc.480C>G (p.Asn160Lys)
n.618C>G
c.471C>G (p.Asn157Lys)
n.2837C>G
c.-1771C>G (n.-1771C>G)
c.178C>G
c.39C>G (p.Asn13Lys)
c.504C>G (p.Asn168Lys)
13g.23358459G>TCA387552145SACSc.480C>A (p.Asn160Lys)
n.618C>A
c.471C>A (p.Asn157Lys)
n.2837C>A
c.-1771C>A (n.-1771C>A)
c.178C>A
c.39C>A (p.Asn13Lys)
c.504C>A (p.Asn168Lys)
13g.23358460T>ACA387552146SACSc.479A>T (p.Asn160Ile)
n.617A>T
c.470A>T (p.Asn157Ile)
n.2836A>T
c.-1772A>T (n.-1772A>T)
c.177A>T
c.38A>T (p.Asn13Ile)
c.503A>T (p.Asn168Ile)
13g.23358460T>CCA387552147SACSc.479A>G (p.Asn160Ser)
n.617A>G
c.470A>G (p.Asn157Ser)
n.2836A>G
c.-1772A>G (n.-1772A>G)
c.177A>G
c.38A>G (p.Asn13Ser)
c.503A>G (p.Asn168Ser)
 gnomAD v4
13g.23358460T>GCA387552148SACSc.479A>C (p.Asn160Thr)
n.617A>C
c.470A>C (p.Asn157Thr)
n.2836A>C
c.-1772A>C (n.-1772A>C)
c.177A>C
c.38A>C (p.Asn13Thr)
c.503A>C (p.Asn168Thr)
13g.23358461T>ACA387552149SACSc.478A>T (p.Asn160Tyr)
n.616A>T
c.469A>T (p.Asn157Tyr)
n.2835A>T
c.-1773A>T (n.-1773A>T)
c.176A>T
c.37A>T (p.Asn13Tyr)
c.502A>T (p.Asn168Tyr)
13g.23358461T>CCA387552150SACSc.478A>G (p.Asn160Asp)
n.616A>G
c.469A>G (p.Asn157Asp)
n.2835A>G
c.-1773A>G (n.-1773A>G)
c.176A>G
c.37A>G (p.Asn13Asp)
c.502A>G (p.Asn168Asp)
13g.23358461T>GCA387552151SACSc.478A>C (p.Asn160His)
n.616A>C
c.469A>C (p.Asn157His)
n.2835A>C
c.-1773A>C (n.-1773A>C)
c.176A>C
c.37A>C (p.Asn13His)
c.502A>C (p.Asn168His)
13g.23358462G>ACA482922413SACSc.477C>T (p.Tyr159=)
n.615C>T
c.468C>T (p.Tyr156=)
n.2834C>T
c.-1774C>T (n.-1774C>T)
c.175C>T
c.36C>T (p.Tyr12=)
c.501C>T (p.Tyr167=)
 ClinVar dbSNP gnomAD v4
13g.23358462G>CCA387552152SACSc.477C>G (p.Tyr159Ter)
n.615C>G
c.468C>G (p.Tyr156Ter)
n.2834C>G
c.-1774C>G (n.-1774C>G)
c.175C>G
c.36C>G (p.Tyr12Ter)
c.501C>G (p.Tyr167Ter)
13g.23358462G=CA2078636555SACSc.477C= (p.Tyr159=)
n.615C=
c.468C= (p.Tyr156=)
n.2834C=
c.-1774C= (n.-1774C=)
c.175C=
c.36C= (p.Tyr12=)
c.501C= (p.Tyr167=)
13g.23358462G>TCA387552153SACSc.477C>A (p.Tyr159Ter)
n.615C>A
c.468C>A (p.Tyr156Ter)
n.2834C>A
c.-1774C>A (n.-1774C>A)
c.175C>A
c.36C>A (p.Tyr12Ter)
c.501C>A (p.Tyr167Ter)
 ClinVar

Number of alleles fetched