Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.1857979_1858021dupCA4599572ARHGEF10c.57_99dup (p.Asp34TyrfsTer3)
c.516_558dup
c.*8_*50dup (n.*8_*50dup)
c.447_489dup
c.129_171dup (p.Asp58TyrfsTer3)
c.12_54dup (p.Asp19TyrfsTer3)
c.141_183dup (p.Asp62TyrfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1857987A>CCA369954801ARHGEF10c.65A>C (p.Asn22Thr)
c.524A>C
c.*16A>C (n.*16A>C)
c.455A>C
c.137A>C (p.Asn46Thr)
c.20A>C (p.Asn7Thr)
c.149A>C (p.Asn50Thr)
8g.1857987A>GCA369954800ARHGEF10c.65A>G (p.Asn22Ser)
c.524A>G
c.*16A>G (n.*16A>G)
c.455A>G
c.137A>G (p.Asn46Ser)
c.20A>G (p.Asn7Ser)
c.149A>G (p.Asn50Ser)
 gnomAD v4
8g.1857987A>TCA369954799ARHGEF10c.65A>T (p.Asn22Ile)
c.524A>T
c.*16A>T (n.*16A>T)
c.455A>T
c.137A>T (p.Asn46Ile)
c.20A>T (p.Asn7Ile)
c.149A>T (p.Asn50Ile)
8g.1857988T>ACA369954802ARHGEF10c.66T>A (p.Asn22Lys)
c.525T>A
c.*17T>A (n.*17T>A)
c.456T>A
c.138T>A (p.Asn46Lys)
c.21T>A (p.Asn7Lys)
c.150T>A (p.Asn50Lys)
8g.1857988T>CCA459054212ARHGEF10c.66T>C (p.Asn22=)
c.525T>C
c.*17T>C (n.*17T>C)
c.456T>C
c.138T>C (p.Asn46=)
c.21T>C (p.Asn7=)
c.150T>C (p.Asn50=)
 dbSNP
8g.1857988T>GCA369954803ARHGEF10c.66T>G (p.Asn22Lys)
c.525T>G
c.*17T>G (n.*17T>G)
c.456T>G
c.138T>G (p.Asn46Lys)
c.21T>G (p.Asn7Lys)
c.150T>G (p.Asn50Lys)
8g.1857988T=CA1757725720ARHGEF10c.66T= (p.Asn22=)
c.525T=
c.*17T= (n.*17T=)
c.456T=
c.138T= (p.Asn46=)
c.21T= (p.Asn7=)
c.150T= (p.Asn50=)
8g.1857989A>CCA369954804ARHGEF10c.67A>C (p.Asn23His)
c.526A>C
c.*18A>C (n.*18A>C)
c.457A>C
c.139A>C (p.Asn47His)
c.22A>C (p.Asn8His)
c.151A>C (p.Asn51His)
8g.1857989A>GCA369954805ARHGEF10c.67A>G (p.Asn23Asp)
c.526A>G
c.*18A>G (n.*18A>G)
c.457A>G
c.139A>G (p.Asn47Asp)
c.22A>G (p.Asn8Asp)
c.151A>G (p.Asn51Asp)
8g.1857989A>TCA369954806ARHGEF10c.67A>T (p.Asn23Tyr)
c.526A>T
c.*18A>T (n.*18A>T)
c.457A>T
c.139A>T (p.Asn47Tyr)
c.22A>T (p.Asn8Tyr)
c.151A>T (p.Asn51Tyr)
8g.1857990A>CCA369954807ARHGEF10c.68A>C (p.Asn23Thr)
c.527A>C
c.*19A>C (n.*19A>C)
c.458A>C
c.140A>C (p.Asn47Thr)
c.23A>C (p.Asn8Thr)
c.152A>C (p.Asn51Thr)
8g.1857990A>GCA369954808ARHGEF10c.68A>G (p.Asn23Ser)
c.527A>G
c.*19A>G (n.*19A>G)
c.458A>G
c.140A>G (p.Asn47Ser)
c.23A>G (p.Asn8Ser)
c.152A>G (p.Asn51Ser)
 gnomAD v4
8g.1857990A>TCA369954809ARHGEF10c.68A>T (p.Asn23Ile)
c.527A>T
c.*19A>T (n.*19A>T)
c.458A>T
c.140A>T (p.Asn47Ile)
c.23A>T (p.Asn8Ile)
c.152A>T (p.Asn51Ile)
8g.1857991T>ACA369954810ARHGEF10c.69T>A (p.Asn23Lys)
c.528T>A
c.*20T>A (n.*20T>A)
c.459T>A
c.141T>A (p.Asn47Lys)
c.24T>A (p.Asn8Lys)
c.153T>A (p.Asn51Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.1857991T>CCA459054222ARHGEF10c.69T>C (p.Asn23=)
c.528T>C
c.*20T>C (n.*20T>C)
c.459T>C
c.141T>C (p.Asn47=)
c.24T>C (p.Asn8=)
c.153T>C (p.Asn51=)
8g.1857991T>GCA369954811ARHGEF10c.69T>G (p.Asn23Lys)
c.528T>G
c.*20T>G (n.*20T>G)
c.459T>G
c.141T>G (p.Asn47Lys)
c.24T>G (p.Asn8Lys)
c.153T>G (p.Asn51Lys)
8g.1857991T=CA1757725722ARHGEF10c.69T= (p.Asn23=)
c.528T=
c.*20T= (n.*20T=)
c.459T=
c.141T= (p.Asn47=)
c.24T= (p.Asn8=)
c.153T= (p.Asn51=)
8g.1857992G>ACA369954812ARHGEF10c.70G>A (p.Glu24Lys)
c.529G>A
c.*21G>A (n.*21G>A)
c.460G>A
c.142G>A (p.Glu48Lys)
c.25G>A (p.Glu9Lys)
c.154G>A (p.Glu52Lys)
8g.1857992G>CCA369954813ARHGEF10c.70G>C (p.Glu24Gln)
c.529G>C
c.*21G>C (n.*21G>C)
c.460G>C
c.142G>C (p.Glu48Gln)
c.25G>C (p.Glu9Gln)
c.154G>C (p.Glu52Gln)
8g.1857992G>TCA369954814ARHGEF10c.70G>T (p.Glu24Ter)
c.529G>T
c.*21G>T (n.*21G>T)
c.460G>T
c.142G>T (p.Glu48Ter)
c.25G>T (p.Glu9Ter)
c.154G>T (p.Glu52Ter)
8g.1857993A>CCA369954816ARHGEF10c.71A>C (p.Glu24Ala)
c.530A>C
c.*22A>C (n.*22A>C)
c.461A>C
c.143A>C (p.Glu48Ala)
c.26A>C (p.Glu9Ala)
c.155A>C (p.Glu52Ala)
8g.1857993A>GCA369954817ARHGEF10c.71A>G (p.Glu24Gly)
c.530A>G
c.*22A>G (n.*22A>G)
c.461A>G
c.143A>G (p.Glu48Gly)
c.26A>G (p.Glu9Gly)
c.155A>G (p.Glu52Gly)
8g.1857993A>TCA369954815ARHGEF10c.71A>T (p.Glu24Val)
c.530A>T
c.*22A>T (n.*22A>T)
c.461A>T
c.143A>T (p.Glu48Val)
c.26A>T (p.Glu9Val)
c.155A>T (p.Glu52Val)
 gnomAD v4
8g.1857994A>CCA369954818ARHGEF10c.72A>C (p.Glu24Asp)
c.531A>C
c.*23A>C (n.*23A>C)
c.462A>C
c.144A>C (p.Glu48Asp)
c.27A>C (p.Glu9Asp)
c.156A>C (p.Glu52Asp)
8g.1857994A>GCA459054233ARHGEF10c.72A>G (p.Glu24=)
c.531A>G
c.*23A>G (n.*23A>G)
c.462A>G
c.144A>G (p.Glu48=)
c.27A>G (p.Glu9=)
c.156A>G (p.Glu52=)
8g.1857994A>TCA369954819ARHGEF10c.72A>T (p.Glu24Asp)
c.531A>T
c.*23A>T (n.*23A>T)
c.462A>T
c.144A>T (p.Glu48Asp)
c.27A>T (p.Glu9Asp)
c.156A>T (p.Glu52Asp)
8g.1857995G>ACA369954820ARHGEF10c.73G>A (p.Glu25Lys)
c.532G>A
c.*24G>A (n.*24G>A)
c.463G>A
c.145G>A (p.Glu49Lys)
c.28G>A (p.Glu10Lys)
c.157G>A (p.Glu53Lys)
8g.1857995G>CCA4599576ARHGEF10c.73G>C (p.Glu25Gln)
c.532G>C
c.*24G>C (n.*24G>C)
c.463G>C
c.145G>C (p.Glu49Gln)
c.28G>C (p.Glu10Gln)
c.157G>C (p.Glu53Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1857995G=CA1757725725ARHGEF10c.73G= (p.Glu25=)
c.532G=
c.*24G= (n.*24G=)
c.463G=
c.145G= (p.Glu49=)
c.28G= (p.Glu10=)
c.157G= (p.Glu53=)
8g.1857995G>TCA369954821ARHGEF10c.73G>T (p.Glu25Ter)
c.532G>T
c.*24G>T (n.*24G>T)
c.463G>T
c.145G>T (p.Glu49Ter)
c.28G>T (p.Glu10Ter)
c.157G>T (p.Glu53Ter)
8g.1857996A>CCA369954824ARHGEF10c.74A>C (p.Glu25Ala)
c.533A>C
c.*25A>C (n.*25A>C)
c.464A>C
c.146A>C (p.Glu49Ala)
c.29A>C (p.Glu10Ala)
c.158A>C (p.Glu53Ala)
8g.1857996A>GCA369954822ARHGEF10c.74A>G (p.Glu25Gly)
c.533A>G
c.*25A>G (n.*25A>G)
c.464A>G
c.146A>G (p.Glu49Gly)
c.29A>G (p.Glu10Gly)
c.158A>G (p.Glu53Gly)
 ClinVar
8g.1857996A>TCA369954823ARHGEF10c.74A>T (p.Glu25Val)
c.533A>T
c.*25A>T (n.*25A>T)
c.464A>T
c.146A>T (p.Glu49Val)
c.29A>T (p.Glu10Val)
c.158A>T (p.Glu53Val)
8g.1857997G>ACA459054243ARHGEF10c.75G>A (p.Glu25=)
c.534G>A
c.*26G>A (n.*26G>A)
c.465G>A
c.147G>A (p.Glu49=)
c.30G>A (p.Glu10=)
c.159G>A (p.Glu53=)
8g.1857997G>CCA369954825ARHGEF10c.75G>C (p.Glu25Asp)
c.534G>C
c.*26G>C (n.*26G>C)
c.465G>C
c.147G>C (p.Glu49Asp)
c.30G>C (p.Glu10Asp)
c.159G>C (p.Glu53Asp)
 gnomAD v4
8g.1857997G>TCA369954826ARHGEF10c.75G>T (p.Glu25Asp)
c.534G>T
c.*26G>T (n.*26G>T)
c.465G>T
c.147G>T (p.Glu49Asp)
c.30G>T (p.Glu10Asp)
c.159G>T (p.Glu53Asp)
 gnomAD v4
8g.1857998G>ACA369954827ARHGEF10c.76G>A (p.Glu26Lys)
c.535G>A
c.*27G>A (n.*27G>A)
c.466G>A
c.148G>A (p.Glu50Lys)
c.31G>A (p.Glu11Lys)
c.160G>A (p.Glu54Lys)
 gnomAD v4
8g.1857998G>CCA170588669ARHGEF10c.76G>C (p.Glu26Gln)
c.535G>C
c.*27G>C (n.*27G>C)
c.466G>C
c.148G>C (p.Glu50Gln)
c.31G>C (p.Glu11Gln)
c.160G>C (p.Glu54Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1857998G=CA1757725727ARHGEF10c.76G= (p.Glu26=)
c.535G=
c.*27G= (n.*27G=)
c.466G=
c.148G= (p.Glu50=)
c.31G= (p.Glu11=)
c.160G= (p.Glu54=)
8g.1857998G>TCA369954828ARHGEF10c.76G>T (p.Glu26Ter)
c.535G>T
c.*27G>T (n.*27G>T)
c.466G>T
c.148G>T (p.Glu50Ter)
c.31G>T (p.Glu11Ter)
c.160G>T (p.Glu54Ter)
8g.1857999A=CA1757725729ARHGEF10c.77A= (p.Glu26=)
c.536A=
c.*28A= (n.*28A=)
c.467A=
c.149A= (p.Glu50=)
c.32A= (p.Glu11=)
c.161A= (p.Glu54=)
8g.1857999A>CCA369954831ARHGEF10c.77A>C (p.Glu26Ala)
c.536A>C
c.*28A>C (n.*28A>C)
c.467A>C
c.149A>C (p.Glu50Ala)
c.32A>C (p.Glu11Ala)
c.161A>C (p.Glu54Ala)
8g.1857999A>GCA369954830ARHGEF10c.77A>G (p.Glu26Gly)
c.536A>G
c.*28A>G (n.*28A>G)
c.467A>G
c.149A>G (p.Glu50Gly)
c.32A>G (p.Glu11Gly)
c.161A>G (p.Glu54Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1857999A>TCA369954829ARHGEF10c.77A>T (p.Glu26Val)
c.536A>T
c.*28A>T (n.*28A>T)
c.467A>T
c.149A>T (p.Glu50Val)
c.32A>T (p.Glu11Val)
c.161A>T (p.Glu54Val)
8g.1858000A=CA1757725731ARHGEF10c.78A= (p.Glu26=)
c.537A=
c.*29A= (n.*29A=)
c.468A=
c.150A= (p.Glu50=)
c.33A= (p.Glu11=)
c.162A= (p.Glu54=)
8g.1858000A>CCA369954832ARHGEF10c.78A>C (p.Glu26Asp)
c.537A>C
c.*29A>C (n.*29A>C)
c.468A>C
c.150A>C (p.Glu50Asp)
c.33A>C (p.Glu11Asp)
c.162A>C (p.Glu54Asp)
8g.1858000A>GCA459054250ARHGEF10c.78A>G (p.Glu26=)
c.537A>G
c.*29A>G (n.*29A>G)
c.468A>G
c.150A>G (p.Glu50=)
c.33A>G (p.Glu11=)
c.162A>G (p.Glu54=)
 gnomAD v4
8g.1858000A>TCA4599577ARHGEF10c.78A>T (p.Glu26Asp)
c.537A>T
c.*29A>T (n.*29A>T)
c.468A>T
c.150A>T (p.Glu50Asp)
c.33A>T (p.Glu11Asp)
c.162A>T (p.Glu54Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858001G>ACA369954833ARHGEF10c.79G>A (p.Glu27Lys)
c.538G>A
c.*30G>A (n.*30G>A)
c.469G>A
c.151G>A (p.Glu51Lys)
c.34G>A (p.Glu12Lys)
c.163G>A (p.Glu55Lys)
8g.1858001G>CCA369954835ARHGEF10c.79G>C (p.Glu27Gln)
c.538G>C
c.*30G>C (n.*30G>C)
c.469G>C
c.151G>C (p.Glu51Gln)
c.34G>C (p.Glu12Gln)
c.163G>C (p.Glu55Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.1858001G=CA1757725735ARHGEF10c.79G= (p.Glu27=)
c.538G=
c.*30G= (n.*30G=)
c.469G=
c.151G= (p.Glu51=)
c.34G= (p.Glu12=)
c.163G= (p.Glu55=)
8g.1858001G>TCA369954834ARHGEF10c.79G>T (p.Glu27Ter)
c.538G>T
c.*30G>T (n.*30G>T)
c.469G>T
c.151G>T (p.Glu51Ter)
c.34G>T (p.Glu12Ter)
c.163G>T (p.Glu55Ter)
 gnomAD v4
8g.1858002A=CA1757725738ARHGEF10c.80A= (p.Glu27=)
c.539A=
c.*31A= (n.*31A=)
c.470A=
c.152A= (p.Glu51=)
c.35A= (p.Glu12=)
c.164A= (p.Glu55=)
8g.1858002A>CCA369954836ARHGEF10c.80A>C (p.Glu27Ala)
c.539A>C
c.*31A>C (n.*31A>C)
c.470A>C
c.152A>C (p.Glu51Ala)
c.35A>C (p.Glu12Ala)
c.164A>C (p.Glu55Ala)
8g.1858002A>GCA369954838ARHGEF10c.80A>G (p.Glu27Gly)
c.539A>G
c.*31A>G (n.*31A>G)
c.470A>G
c.152A>G (p.Glu51Gly)
c.35A>G (p.Glu12Gly)
c.164A>G (p.Glu55Gly)
 gnomAD v4
8g.1858002A>TCA369954837ARHGEF10c.80A>T (p.Glu27Val)
c.539A>T
c.*31A>T (n.*31A>T)
c.470A>T
c.152A>T (p.Glu51Val)
c.35A>T (p.Glu12Val)
c.164A>T (p.Glu55Val)
 dbSNP
8g.1858003G>ACA459054258ARHGEF10c.81G>A (p.Glu27=)
c.540G>A
c.*32G>A (n.*32G>A)
c.471G>A
c.153G>A (p.Glu51=)
c.36G>A (p.Glu12=)
c.165G>A (p.Glu55=)
 dbSNP
8g.1858003G>CCA170588670ARHGEF10c.81G>C (p.Glu27Asp)
c.540G>C
c.*32G>C (n.*32G>C)
c.471G>C
c.153G>C (p.Glu51Asp)
c.36G>C (p.Glu12Asp)
c.165G>C (p.Glu55Asp)
 dbSNP
8g.1858003G=CA1757725741ARHGEF10c.81G= (p.Glu27=)
c.540G=
c.*32G= (n.*32G=)
c.471G=
c.153G= (p.Glu51=)
c.36G= (p.Glu12=)
c.165G= (p.Glu55=)
8g.1858003G>TCA369954839ARHGEF10c.81G>T (p.Glu27Asp)
c.540G>T
c.*32G>T (n.*32G>T)
c.471G>T
c.153G>T (p.Glu51Asp)
c.36G>T (p.Glu12Asp)
c.165G>T (p.Glu55Asp)
8g.1858004G>ACA369954840ARHGEF10c.82G>A (p.Gly28Arg)
c.541G>A
c.*33G>A (n.*33G>A)
c.472G>A
c.154G>A (p.Gly52Arg)
c.37G>A (p.Gly13Arg)
c.166G>A (p.Gly56Arg)
 gnomAD v4
8g.1858004G>CCA369954842ARHGEF10c.82G>C (p.Gly28Arg)
c.541G>C
c.*33G>C (n.*33G>C)
c.472G>C
c.154G>C (p.Gly52Arg)
c.37G>C (p.Gly13Arg)
c.166G>C (p.Gly56Arg)
8g.1858004G=CA1757725745ARHGEF10c.82G= (p.Gly28=)
c.541G=
c.*33G= (n.*33G=)
c.472G=
c.154G= (p.Gly52=)
c.37G= (p.Gly13=)
c.166G= (p.Gly56=)
8g.1858004G>TCA369954841ARHGEF10c.82G>T (p.Gly28Ter)
c.541G>T
c.*33G>T (n.*33G>T)
c.472G>T
c.154G>T (p.Gly52Ter)
c.37G>T (p.Gly13Ter)
c.166G>T (p.Gly56Ter)
 dbSNP
8g.1858005G>ACA369954843ARHGEF10c.83G>A (p.Gly28Glu)
c.542G>A
c.*34G>A (n.*34G>A)
c.473G>A
c.155G>A (p.Gly52Glu)
c.38G>A (p.Gly13Glu)
c.167G>A (p.Gly56Glu)
8g.1858005G>CCA4599578ARHGEF10c.83G>C (p.Gly28Ala)
c.542G>C
c.*34G>C (n.*34G>C)
c.473G>C
c.155G>C (p.Gly52Ala)
c.38G>C (p.Gly13Ala)
c.167G>C (p.Gly56Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858005G=CA1757725747ARHGEF10c.83G= (p.Gly28=)
c.542G=
c.*34G= (n.*34G=)
c.473G=
c.155G= (p.Gly52=)
c.38G= (p.Gly13=)
c.167G= (p.Gly56=)
8g.1858005G>TCA369954844ARHGEF10c.83G>T (p.Gly28Val)
c.542G>T
c.*34G>T (n.*34G>T)
c.473G>T
c.155G>T (p.Gly52Val)
c.38G>T (p.Gly13Val)
c.167G>T (p.Gly56Val)
8g.1858006_1858012delCA2685945710ARHGEF10c.84_90del (p.Glu29SerfsTer?)
c.543_549del
c.*35_*41del (n.*35_*41del)
c.474_480del
c.156_162del (p.Glu53SerfsTer?)
c.39_45del (p.Glu14SerfsTer?)
c.168_174del (p.Glu57SerfsTer?)
 gnomAD v4
8g.1858006A>CCA459054267ARHGEF10c.84A>C (p.Gly28=)
c.543A>C
c.*35A>C (n.*35A>C)
c.474A>C
c.156A>C (p.Gly52=)
c.39A>C (p.Gly13=)
c.168A>C (p.Gly56=)
8g.1858006A>GCA459054269ARHGEF10c.84A>G (p.Gly28=)
c.543A>G
c.*35A>G (n.*35A>G)
c.474A>G
c.156A>G (p.Gly52=)
c.39A>G (p.Gly13=)
c.168A>G (p.Gly56=)
8g.1858006A>TCA459054271ARHGEF10c.84A>T (p.Gly28=)
c.543A>T
c.*35A>T (n.*35A>T)
c.474A>T
c.156A>T (p.Gly52=)
c.39A>T (p.Gly13=)
c.168A>T (p.Gly56=)
8g.1858006_1858007delinsAGCA1757725751ARHGEF10c.84_85delinsAG (p.Gly28=)
c.543_544delinsAG
c.*35_*36delinsAG (n.*35_*36delinsAG)
c.474_475delinsAG
c.156_157delinsAG (p.Gly52=)
c.39_40delinsAG (p.Gly13=)
c.168_169delinsAG (p.Gly56=)
8g.1858007delCA579552810ARHGEF10c.85del (p.Glu29AsnfsTer?)
c.544del
c.*36del (n.*36del)
c.475del
c.157del (p.Glu53AsnfsTer?)
c.40del (p.Glu14AsnfsTer?)
c.169del (p.Glu57AsnfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.1858007G>ACA369954845ARHGEF10c.85G>A (p.Glu29Lys)
c.544G>A
c.*36G>A (n.*36G>A)
c.475G>A
c.157G>A (p.Glu53Lys)
c.40G>A (p.Glu14Lys)
c.169G>A (p.Glu57Lys)
8g.1858007G>CCA369954846ARHGEF10c.85G>C (p.Glu29Gln)
c.544G>C
c.*36G>C (n.*36G>C)
c.475G>C
c.157G>C (p.Glu53Gln)
c.40G>C (p.Glu14Gln)
c.169G>C (p.Glu57Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.1858007G=CA1757725755ARHGEF10c.85G= (p.Glu29=)
c.544G=
c.*36G= (n.*36G=)
c.475G=
c.157G= (p.Glu53=)
c.40G= (p.Glu14=)
c.169G= (p.Glu57=)
8g.1858007G>TCA369954847ARHGEF10c.85G>T (p.Glu29Ter)
c.544G>T
c.*36G>T (n.*36G>T)
c.475G>T
c.157G>T (p.Glu53Ter)
c.40G>T (p.Glu14Ter)
c.169G>T (p.Glu57Ter)
8g.1858008A>CCA369954848ARHGEF10c.86A>C (p.Glu29Ala)
c.545A>C
c.*37A>C (n.*37A>C)
c.476A>C
c.158A>C (p.Glu53Ala)
c.41A>C (p.Glu14Ala)
c.170A>C (p.Glu57Ala)
8g.1858008A>GCA369954849ARHGEF10c.86A>G (p.Glu29Gly)
c.545A>G
c.*37A>G (n.*37A>G)
c.476A>G
c.158A>G (p.Glu53Gly)
c.41A>G (p.Glu14Gly)
c.170A>G (p.Glu57Gly)
8g.1858008A>TCA369954850ARHGEF10c.86A>T (p.Glu29Val)
c.545A>T
c.*37A>T (n.*37A>T)
c.476A>T
c.158A>T (p.Glu53Val)
c.41A>T (p.Glu14Val)
c.170A>T (p.Glu57Val)
 gnomAD v4
8g.1858009A=CA1757725757ARHGEF10c.87A= (p.Glu29=)
c.546A=
c.*38A= (n.*38A=)
c.477A=
c.159A= (p.Glu53=)
c.42A= (p.Glu14=)
c.171A= (p.Glu57=)
8g.1858009A>CCA369954851ARHGEF10c.87A>C (p.Glu29Asp)
c.546A>C
c.*38A>C (n.*38A>C)
c.477A>C
c.159A>C (p.Glu53Asp)
c.42A>C (p.Glu14Asp)
c.171A>C (p.Glu57Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.1858009A>GCA459054278ARHGEF10c.87A>G (p.Glu29=)
c.546A>G
c.*38A>G (n.*38A>G)
c.477A>G
c.159A>G (p.Glu53=)
c.42A>G (p.Glu14=)
c.171A>G (p.Glu57=)
8g.1858009A>TCA369954852ARHGEF10c.87A>T (p.Glu29Asp)
c.546A>T
c.*38A>T (n.*38A>T)
c.477A>T
c.159A>T (p.Glu53Asp)
c.42A>T (p.Glu14Asp)
c.171A>T (p.Glu57Asp)
8g.1858010C>ACA369954853ARHGEF10c.88C>A (p.Gln30Lys)
c.547C>A
c.*39C>A (n.*39C>A)
c.478C>A
c.160C>A (p.Gln54Lys)
c.43C>A (p.Gln15Lys)
c.172C>A (p.Gln58Lys)
8g.1858010C=CA1757725760ARHGEF10c.88C= (p.Gln30=)
c.547C=
c.*39C= (n.*39C=)
c.478C=
c.160C= (p.Gln54=)
c.43C= (p.Gln15=)
c.172C= (p.Gln58=)
8g.1858010C>GCA4599579ARHGEF10c.88C>G (p.Gln30Glu)
c.547C>G
c.*39C>G (n.*39C>G)
c.478C>G
c.160C>G (p.Gln54Glu)
c.43C>G (p.Gln15Glu)
c.172C>G (p.Gln58Glu)
 dbSNP ExAC gnomAD v2
8g.1858010C>TCA4599580ARHGEF10c.88C>T (p.Gln30Ter)
c.547C>T
c.*39C>T (n.*39C>T)
c.478C>T
c.160C>T (p.Gln54Ter)
c.43C>T (p.Gln15Ter)
c.172C>T (p.Gln58Ter)
 dbSNP ExAC gnomAD v2
8g.1858011A=CA1757725767ARHGEF10c.89A= (p.Gln30=)
c.548A=
c.*40A= (n.*40A=)
c.479A=
c.161A= (p.Gln54=)
c.44A= (p.Gln15=)
c.173A= (p.Gln58=)
8g.1858011A>CCA369954854ARHGEF10c.89A>C (p.Gln30Pro)
c.548A>C
c.*40A>C (n.*40A>C)
c.479A>C
c.161A>C (p.Gln54Pro)
c.44A>C (p.Gln15Pro)
c.173A>C (p.Gln58Pro)
8g.1858011A>GCA369954855ARHGEF10c.89A>G (p.Gln30Arg)
c.548A>G
c.*40A>G (n.*40A>G)
c.479A>G
c.161A>G (p.Gln54Arg)
c.44A>G (p.Gln15Arg)
c.173A>G (p.Gln58Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.1858011A>TCA4599581ARHGEF10c.89A>T (p.Gln30Leu)
c.548A>T
c.*40A>T (n.*40A>T)
c.479A>T
c.161A>T (p.Gln54Leu)
c.44A>T (p.Gln15Leu)
c.173A>T (p.Gln58Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858012G>ACA459054287ARHGEF10c.90G>A (p.Gln30=)
c.549G>A
c.*41G>A (n.*41G>A)
c.480G>A
c.162G>A (p.Gln54=)
c.45G>A (p.Gln15=)
c.174G>A (p.Gln58=)
 gnomAD v4
8g.1858012G>CCA369954856ARHGEF10c.90G>C (p.Gln30His)
c.549G>C
c.*41G>C (n.*41G>C)
c.480G>C
c.162G>C (p.Gln54His)
c.45G>C (p.Gln15His)
c.174G>C (p.Gln58His)
 gnomAD v4
8g.1858012G>TCA369954857ARHGEF10c.90G>T (p.Gln30His)
c.549G>T
c.*41G>T (n.*41G>T)
c.480G>T
c.162G>T (p.Gln54His)
c.45G>T (p.Gln15His)
c.174G>T (p.Gln58His)
8g.1858013T>ACA369954858ARHGEF10c.91T>A (p.Phe31Ile)
c.550T>A
c.*42T>A (n.*42T>A)
c.481T>A
c.163T>A (p.Phe55Ile)
c.46T>A (p.Phe16Ile)
c.175T>A (p.Phe59Ile)
8g.1858013T>CCA369954859ARHGEF10c.91T>C (p.Phe31Leu)
c.550T>C
c.*42T>C (n.*42T>C)
c.481T>C
c.163T>C (p.Phe55Leu)
c.46T>C (p.Phe16Leu)
c.175T>C (p.Phe59Leu)
8g.1858013T>GCA369954860ARHGEF10c.91T>G (p.Phe31Val)
c.550T>G
c.*42T>G (n.*42T>G)
c.481T>G
c.163T>G (p.Phe55Val)
c.46T>G (p.Phe16Val)
c.175T>G (p.Phe59Val)
8g.1858014T>ACA369954861ARHGEF10c.92T>A (p.Phe31Tyr)
c.551T>A
c.*43T>A (n.*43T>A)
c.482T>A
c.164T>A (p.Phe55Tyr)
c.47T>A (p.Phe16Tyr)
c.176T>A (p.Phe59Tyr)
8g.1858014T>CCA369954862ARHGEF10c.92T>C (p.Phe31Ser)
c.551T>C
c.*43T>C (n.*43T>C)
c.482T>C
c.164T>C (p.Phe55Ser)
c.47T>C (p.Phe16Ser)
c.176T>C (p.Phe59Ser)
8g.1858014T>GCA369954863ARHGEF10c.92T>G (p.Phe31Cys)
c.551T>G
c.*43T>G (n.*43T>G)
c.482T>G
c.164T>G (p.Phe55Cys)
c.47T>G (p.Phe16Cys)
c.176T>G (p.Phe59Cys)
8g.1858015C>ACA369954864ARHGEF10c.93C>A (p.Phe31Leu)
c.552C>A
c.*44C>A (n.*44C>A)
c.483C>A
c.165C>A (p.Phe55Leu)
c.48C>A (p.Phe16Leu)
c.177C>A (p.Phe59Leu)
8g.1858015C=CA1757725772ARHGEF10c.93C= (p.Phe31=)
c.552C=
c.*44C= (n.*44C=)
c.483C=
c.165C= (p.Phe55=)
c.48C= (p.Phe16=)
c.177C= (p.Phe59=)
8g.1858015C>GCA4599582ARHGEF10c.93C>G (p.Phe31Leu)
c.552C>G
c.*44C>G (n.*44C>G)
c.483C>G
c.165C>G (p.Phe55Leu)
c.48C>G (p.Phe16Leu)
c.177C>G (p.Phe59Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858015C>TCA4599583ARHGEF10c.93C>T (p.Phe31=)
c.552C>T
c.*44C>T (n.*44C>T)
c.483C>T
c.165C>T (p.Phe55=)
c.48C>T (p.Phe16=)
c.177C>T (p.Phe59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858016G>ACA4599584ARHGEF10c.94G>A (p.Asp32Asn)
c.553G>A
c.*45G>A (n.*45G>A)
c.484G>A
c.166G>A (p.Asp56Asn)
c.49G>A (p.Asp17Asn)
c.178G>A (p.Asp60Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.1858016G>CCA4599585ARHGEF10c.94G>C (p.Asp32His)
c.553G>C
c.*45G>C (n.*45G>C)
c.484G>C
c.166G>C (p.Asp56His)
c.49G>C (p.Asp17His)
c.178G>C (p.Asp60His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858016G=CA1757725775ARHGEF10c.94G= (p.Asp32=)
c.553G=
c.*45G= (n.*45G=)
c.484G=
c.166G= (p.Asp56=)
c.49G= (p.Asp17=)
c.178G= (p.Asp60=)
8g.1858016G>TCA369954865ARHGEF10c.94G>T (p.Asp32Tyr)
c.553G>T
c.*45G>T (n.*45G>T)
c.484G>T
c.166G>T (p.Asp56Tyr)
c.49G>T (p.Asp17Tyr)
c.178G>T (p.Asp60Tyr)
 dbSNP gnomAD v4
8g.1858017A>CCA369954866ARHGEF10c.95A>C (p.Asp32Ala)
c.554A>C
c.*46A>C (n.*46A>C)
c.485A>C
c.167A>C (p.Asp56Ala)
c.50A>C (p.Asp17Ala)
c.179A>C (p.Asp60Ala)
8g.1858017A>GCA369954867ARHGEF10c.95A>G (p.Asp32Gly)
c.554A>G
c.*46A>G (n.*46A>G)
c.485A>G
c.167A>G (p.Asp56Gly)
c.50A>G (p.Asp17Gly)
c.179A>G (p.Asp60Gly)
8g.1858017A>TCA369954868ARHGEF10c.95A>T (p.Asp32Val)
c.554A>T
c.*46A>T (n.*46A>T)
c.485A>T
c.167A>T (p.Asp56Val)
c.50A>T (p.Asp17Val)
c.179A>T (p.Asp60Val)
8g.1858018T>ACA369954869ARHGEF10c.96T>A (p.Asp32Glu)
c.555T>A
c.*47T>A (n.*47T>A)
c.486T>A
c.168T>A (p.Asp56Glu)
c.51T>A (p.Asp17Glu)
c.180T>A (p.Asp60Glu)
8g.1858018T>CCA459054308ARHGEF10c.96T>C (p.Asp32=)
c.555T>C
c.*47T>C (n.*47T>C)
c.486T>C
c.168T>C (p.Asp56=)
c.51T>C (p.Asp17=)
c.180T>C (p.Asp60=)
 gnomAD v4
8g.1858018T>GCA369954870ARHGEF10c.96T>G (p.Asp32Glu)
c.555T>G
c.*47T>G (n.*47T>G)
c.486T>G
c.168T>G (p.Asp56Glu)
c.51T>G (p.Asp17Glu)
c.180T>G (p.Asp60Glu)
8g.1858019T>ACA369954871ARHGEF10c.97T>A (p.Phe33Ile)
c.556T>A
c.*48T>A (n.*48T>A)
c.487T>A
c.169T>A (p.Phe57Ile)
c.52T>A (p.Phe18Ile)
c.181T>A (p.Phe61Ile)
8g.1858019T>CCA369954872ARHGEF10c.97T>C (p.Phe33Leu)
c.556T>C
c.*48T>C (n.*48T>C)
c.487T>C
c.169T>C (p.Phe57Leu)
c.52T>C (p.Phe18Leu)
c.181T>C (p.Phe61Leu)
8g.1858019T>GCA369954873ARHGEF10c.97T>G (p.Phe33Val)
c.556T>G
c.*48T>G (n.*48T>G)
c.487T>G
c.169T>G (p.Phe57Val)
c.52T>G (p.Phe18Val)
c.181T>G (p.Phe61Val)
8g.1858020T>ACA369954874ARHGEF10c.98T>A (p.Phe33Tyr)
c.557T>A
c.*49T>A (n.*49T>A)
c.488T>A
c.170T>A (p.Phe57Tyr)
c.53T>A (p.Phe18Tyr)
c.182T>A (p.Phe61Tyr)
8g.1858020T>CCA369954875ARHGEF10c.98T>C (p.Phe33Ser)
c.557T>C
c.*49T>C (n.*49T>C)
c.488T>C
c.170T>C (p.Phe57Ser)
c.53T>C (p.Phe18Ser)
c.182T>C (p.Phe61Ser)
 gnomAD v4
8g.1858020T>GCA369954876ARHGEF10c.98T>G (p.Phe33Cys)
c.557T>G
c.*49T>G (n.*49T>G)
c.488T>G
c.170T>G (p.Phe57Cys)
c.53T>G (p.Phe18Cys)
c.182T>G (p.Phe61Cys)
8g.1858021T>ACA369954877ARHGEF10c.99T>A (p.Phe33Leu)
c.558T>A
c.*50T>A (n.*50T>A)
c.489T>A
c.171T>A (p.Phe57Leu)
c.54T>A (p.Phe18Leu)
c.183T>A (p.Phe61Leu)
8g.1858021T>CCA459054319ARHGEF10c.99T>C (p.Phe33=)
c.558T>C
c.*50T>C (n.*50T>C)
c.489T>C
c.171T>C (p.Phe57=)
c.54T>C (p.Phe18=)
c.183T>C (p.Phe61=)
8g.1858021T>GCA369954878ARHGEF10c.99T>G (p.Phe33Leu)
c.558T>G
c.*50T>G (n.*50T>G)
c.489T>G
c.171T>G (p.Phe57Leu)
c.54T>G (p.Phe18Leu)
c.183T>G (p.Phe61Leu)
8g.1858022G>ACA369954879ARHGEF10c.100G>A (p.Asp34Asn)
c.559G>A
c.*51G>A (n.*51G>A)
c.490G>A
c.172G>A (p.Asp58Asn)
c.55G>A (p.Asp19Asn)
c.184G>A (p.Asp62Asn)
 gnomAD v4
8g.1858022G>CCA369954880ARHGEF10c.100G>C (p.Asp34His)
c.559G>C
c.*51G>C (n.*51G>C)
c.490G>C
c.172G>C (p.Asp58His)
c.55G>C (p.Asp19His)
c.184G>C (p.Asp62His)
8g.1858022G>TCA369954881ARHGEF10c.100G>T (p.Asp34Tyr)
c.559G>T
c.*51G>T (n.*51G>T)
c.490G>T
c.172G>T (p.Asp58Tyr)
c.55G>T (p.Asp19Tyr)
c.184G>T (p.Asp62Tyr)
8g.1858023A>CCA369954882ARHGEF10c.101A>C (p.Asp34Ala)
c.560A>C
c.*52A>C (n.*52A>C)
c.491A>C
c.173A>C (p.Asp58Ala)
c.56A>C (p.Asp19Ala)
c.185A>C (p.Asp62Ala)
8g.1858023A>GCA369954883ARHGEF10c.101A>G (p.Asp34Gly)
c.560A>G
c.*52A>G (n.*52A>G)
c.491A>G
c.173A>G (p.Asp58Gly)
c.56A>G (p.Asp19Gly)
c.185A>G (p.Asp62Gly)
8g.1858023A>TCA369954884ARHGEF10c.101A>T (p.Asp34Val)
c.560A>T
c.*52A>T (n.*52A>T)
c.491A>T
c.173A>T (p.Asp58Val)
c.56A>T (p.Asp19Val)
c.185A>T (p.Asp62Val)
8g.1858024C>ACA369954885ARHGEF10c.102C>A (p.Asp34Glu)
c.561C>A
c.*53C>A (n.*53C>A)
c.492C>A
c.174C>A (p.Asp58Glu)
c.57C>A (p.Asp19Glu)
c.186C>A (p.Asp62Glu)
8g.1858024C>GCA369954886ARHGEF10c.102C>G (p.Asp34Glu)
c.561C>G
c.*53C>G (n.*53C>G)
c.492C>G
c.174C>G (p.Asp58Glu)
c.57C>G (p.Asp19Glu)
c.186C>G (p.Asp62Glu)
8g.1858024C>TCA459054331ARHGEF10c.102C>T (p.Asp34=)
c.561C>T
c.*53C>T (n.*53C>T)
c.492C>T
c.174C>T (p.Asp58=)
c.57C>T (p.Asp19=)
c.186C>T (p.Asp62=)
8g.1858025A=CA1757725779ARHGEF10c.103A= (p.Ser35=)
c.562A=
c.*54A= (n.*54A=)
c.493A=
c.175A= (p.Ser59=)
c.58A= (p.Ser20=)
c.187A= (p.Ser63=)
8g.1858025A>CCA369954887ARHGEF10c.103A>C (p.Ser35Arg)
c.562A>C
c.*54A>C (n.*54A>C)
c.493A>C
c.175A>C (p.Ser59Arg)
c.58A>C (p.Ser20Arg)
c.187A>C (p.Ser63Arg)
8g.1858025A>GCA369954888ARHGEF10c.103A>G (p.Ser35Gly)
c.562A>G
c.*54A>G (n.*54A>G)
c.493A>G
c.175A>G (p.Ser59Gly)
c.58A>G (p.Ser20Gly)
c.187A>G (p.Ser63Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.1858025A>TCA4599586ARHGEF10c.103A>T (p.Ser35Cys)
c.562A>T
c.*54A>T (n.*54A>T)
c.493A>T
c.175A>T (p.Ser59Cys)
c.58A>T (p.Ser20Cys)
c.187A>T (p.Ser63Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858026G>ACA369954890ARHGEF10c.104G>A (p.Ser35Asn)
c.563G>A
c.*55G>A (n.*55G>A)
c.494G>A
c.176G>A (p.Ser59Asn)
c.59G>A (p.Ser20Asn)
c.188G>A (p.Ser63Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.1858026G>CCA4599587ARHGEF10c.104G>C (p.Ser35Thr)
c.563G>C
c.*55G>C (n.*55G>C)
c.494G>C
c.176G>C (p.Ser59Thr)
c.59G>C (p.Ser20Thr)
c.188G>C (p.Ser63Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858026G=CA1757725780ARHGEF10c.104G= (p.Ser35=)
c.563G=
c.*55G= (n.*55G=)
c.494G=
c.176G= (p.Ser59=)
c.59G= (p.Ser20=)
c.188G= (p.Ser63=)
8g.1858026G>TCA369954889ARHGEF10c.104G>T (p.Ser35Ile)
c.563G>T
c.*55G>T (n.*55G>T)
c.494G>T
c.176G>T (p.Ser59Ile)
c.59G>T (p.Ser20Ile)
c.188G>T (p.Ser63Ile)
8g.1858027T>ACA369954891ARHGEF10c.105T>A (p.Ser35Arg)
c.564T>A
c.*56T>A (n.*56T>A)
c.495T>A
c.177T>A (p.Ser59Arg)
c.60T>A (p.Ser20Arg)
c.189T>A (p.Ser63Arg)
 dbSNP
8g.1858027T>CCA459054342ARHGEF10c.105T>C (p.Ser35=)
c.564T>C
c.*56T>C (n.*56T>C)
c.495T>C
c.177T>C (p.Ser59=)
c.60T>C (p.Ser20=)
c.189T>C (p.Ser63=)
8g.1858027T>GCA369954892ARHGEF10c.105T>G (p.Ser35Arg)
c.564T>G
c.*56T>G (n.*56T>G)
c.495T>G
c.177T>G (p.Ser59Arg)
c.60T>G (p.Ser20Arg)
c.189T>G (p.Ser63Arg)
8g.1858027T=CA1757725781ARHGEF10c.105T= (p.Ser35=)
c.564T=
c.*56T= (n.*56T=)
c.495T=
c.177T= (p.Ser59=)
c.60T= (p.Ser20=)
c.189T= (p.Ser63=)
8g.1858028G>ACA4599588ARHGEF10c.106G>A (p.Gly36Arg)
c.565G>A
c.*57G>A (n.*57G>A)
c.496G>A
c.178G>A (p.Gly60Arg)
c.61G>A (p.Gly21Arg)
c.190G>A (p.Gly64Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858028G>CCA369954893ARHGEF10c.106G>C (p.Gly36Arg)
c.565G>C
c.*57G>C (n.*57G>C)
c.496G>C
c.178G>C (p.Gly60Arg)
c.61G>C (p.Gly21Arg)
c.190G>C (p.Gly64Arg)
8g.1858028G=CA1757725782ARHGEF10c.106G= (p.Gly36=)
c.565G=
c.*57G= (n.*57G=)
c.496G=
c.178G= (p.Gly60=)
c.61G= (p.Gly21=)
c.190G= (p.Gly64=)
8g.1858028G>TCA369954894ARHGEF10c.106G>T (p.Gly36Ter)
c.565G>T
c.*57G>T (n.*57G>T)
c.496G>T
c.178G>T (p.Gly60Ter)
c.61G>T (p.Gly21Ter)
c.190G>T (p.Gly64Ter)
8g.1858029G>ACA4599589ARHGEF10c.107G>A (p.Gly36Glu)
c.566G>A
c.*58G>A (n.*58G>A)
c.497G>A
c.179G>A (p.Gly60Glu)
c.62G>A (p.Gly21Glu)
c.191G>A (p.Gly64Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858029G>CCA369954895ARHGEF10c.107G>C (p.Gly36Ala)
c.566G>C
c.*58G>C (n.*58G>C)
c.497G>C
c.179G>C (p.Gly60Ala)
c.62G>C (p.Gly21Ala)
c.191G>C (p.Gly64Ala)
8g.1858029G=CA1757725784ARHGEF10c.107G= (p.Gly36=)
c.566G=
c.*58G= (n.*58G=)
c.497G=
c.179G= (p.Gly60=)
c.62G= (p.Gly21=)
c.191G= (p.Gly64=)
8g.1858029G>TCA369954896ARHGEF10c.107G>T (p.Gly36Val)
c.566G>T
c.*58G>T (n.*58G>T)
c.497G>T
c.179G>T (p.Gly60Val)
c.62G>T (p.Gly21Val)
c.191G>T (p.Gly64Val)
8g.1858030A>CCA459054356ARHGEF10c.108A>C (p.Gly36=)
c.567A>C
c.*59A>C (n.*59A>C)
c.498A>C
c.180A>C (p.Gly60=)
c.63A>C (p.Gly21=)
c.192A>C (p.Gly64=)
8g.1858030A>GCA459054354ARHGEF10c.108A>G (p.Gly36=)
c.567A>G
c.*59A>G (n.*59A>G)
c.498A>G
c.180A>G (p.Gly60=)
c.63A>G (p.Gly21=)
c.192A>G (p.Gly64=)
8g.1858030A>TCA459054352ARHGEF10c.108A>T (p.Gly36=)
c.567A>T
c.*59A>T (n.*59A>T)
c.498A>T
c.180A>T (p.Gly60=)
c.63A>T (p.Gly21=)
c.192A>T (p.Gly64=)
8g.1858031G>ACA369954899ARHGEF10c.109G>A (p.Asp37Asn)
c.568G>A
c.*60G>A (n.*60G>A)
c.499G>A
c.181G>A (p.Asp61Asn)
c.64G>A (p.Asp22Asn)
c.193G>A (p.Asp65Asn)
 dbSNP
8g.1858031G>CCA369954897ARHGEF10c.109G>C (p.Asp37His)
c.568G>C
c.*60G>C (n.*60G>C)
c.499G>C
c.181G>C (p.Asp61His)
c.64G>C (p.Asp22His)
c.193G>C (p.Asp65His)
8g.1858031G>TCA369954898ARHGEF10c.109G>T (p.Asp37Tyr)
c.568G>T
c.*60G>T (n.*60G>T)
c.499G>T
c.181G>T (p.Asp61Tyr)
c.64G>T (p.Asp22Tyr)
c.193G>T (p.Asp65Tyr)
8g.1858032A=CA1757725785ARHGEF10c.110A= (p.Asp37=)
c.569A=
c.*61A= (n.*61A=)
c.500A=
c.182A= (p.Asp61=)
c.65A= (p.Asp22=)
c.194A= (p.Asp65=)
8g.1858032A>CCA369954900ARHGEF10c.110A>C (p.Asp37Ala)
c.569A>C
c.*61A>C (n.*61A>C)
c.500A>C
c.182A>C (p.Asp61Ala)
c.65A>C (p.Asp22Ala)
c.194A>C (p.Asp65Ala)
8g.1858032A>GCA4599590ARHGEF10c.110A>G (p.Asp37Gly)
c.569A>G
c.*61A>G (n.*61A>G)
c.500A>G
c.182A>G (p.Asp61Gly)
c.65A>G (p.Asp22Gly)
c.194A>G (p.Asp65Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858032A>TCA369954901ARHGEF10c.110A>T (p.Asp37Val)
c.569A>T
c.*61A>T (n.*61A>T)
c.500A>T
c.182A>T (p.Asp61Val)
c.65A>T (p.Asp22Val)
c.194A>T (p.Asp65Val)
8g.1858033T>ACA369954902ARHGEF10c.111T>A (p.Asp37Glu)
c.570T>A
c.*62T>A (n.*62T>A)
c.501T>A
c.183T>A (p.Asp61Glu)
c.66T>A (p.Asp22Glu)
c.195T>A (p.Asp65Glu)
8g.1858033T>CCA459054367ARHGEF10c.111T>C (p.Asp37=)
c.570T>C
c.*62T>C (n.*62T>C)
c.501T>C
c.183T>C (p.Asp61=)
c.66T>C (p.Asp22=)
c.195T>C (p.Asp65=)
8g.1858033T>GCA369954903ARHGEF10c.111T>G (p.Asp37Glu)
c.570T>G
c.*62T>G (n.*62T>G)
c.501T>G
c.183T>G (p.Asp61Glu)
c.66T>G (p.Asp22Glu)
c.195T>G (p.Asp65Glu)
8g.1858034G>ACA369954904ARHGEF10c.112G>A (p.Glu38Lys)
c.571G>A
c.*63G>A (n.*63G>A)
c.502G>A
c.184G>A (p.Glu62Lys)
c.67G>A (p.Glu23Lys)
c.196G>A (p.Glu66Lys)
8g.1858034G>CCA170588671ARHGEF10c.112G>C (p.Glu38Gln)
c.571G>C
c.*63G>C (n.*63G>C)
c.502G>C
c.184G>C (p.Glu62Gln)
c.67G>C (p.Glu23Gln)
c.196G>C (p.Glu66Gln)
 dbSNP
8g.1858034G=CA1757725788ARHGEF10c.112G= (p.Glu38=)
c.571G=
c.*63G= (n.*63G=)
c.502G=
c.184G= (p.Glu62=)
c.67G= (p.Glu23=)
c.196G= (p.Glu66=)
8g.1858034G>TCA369954905ARHGEF10c.112G>T (p.Glu38Ter)
c.571G>T
c.*63G>T (n.*63G>T)
c.502G>T
c.184G>T (p.Glu62Ter)
c.67G>T (p.Glu23Ter)
c.196G>T (p.Glu66Ter)
8g.1858035A>CCA369954906ARHGEF10c.113A>C (p.Glu38Ala)
c.572A>C
c.*64A>C (n.*64A>C)
c.503A>C
c.185A>C (p.Glu62Ala)
c.68A>C (p.Glu23Ala)
c.197A>C (p.Glu66Ala)
8g.1858035A>GCA369954907ARHGEF10c.113A>G (p.Glu38Gly)
c.572A>G
c.*64A>G (n.*64A>G)
c.503A>G
c.185A>G (p.Glu62Gly)
c.68A>G (p.Glu23Gly)
c.197A>G (p.Glu66Gly)
8g.1858035A>TCA369954908ARHGEF10c.113A>T (p.Glu38Val)
c.572A>T
c.*64A>T (n.*64A>T)
c.503A>T
c.185A>T (p.Glu62Val)
c.68A>T (p.Glu23Val)
c.197A>T (p.Glu66Val)
8g.1858036A>CCA369954909ARHGEF10c.114A>C (p.Glu38Asp)
c.573A>C
c.*65A>C (n.*65A>C)
c.504A>C
c.186A>C (p.Glu62Asp)
c.69A>C (p.Glu23Asp)
c.198A>C (p.Glu66Asp)
8g.1858036A>GCA459054378ARHGEF10c.114A>G (p.Glu38=)
c.573A>G
c.*65A>G (n.*65A>G)
c.504A>G
c.186A>G (p.Glu62=)
c.69A>G (p.Glu23=)
c.198A>G (p.Glu66=)
8g.1858036A>TCA369954910ARHGEF10c.114A>T (p.Glu38Asp)
c.573A>T
c.*65A>T (n.*65A>T)
c.504A>T
c.186A>T (p.Glu62Asp)
c.69A>T (p.Glu23Asp)
c.198A>T (p.Glu66Asp)
8g.1858037A>CCA369954911ARHGEF10c.115A>C (p.Ile39Leu)
c.574A>C
c.*66A>C (n.*66A>C)
c.505A>C
c.187A>C (p.Ile63Leu)
c.70A>C (p.Ile24Leu)
c.199A>C (p.Ile67Leu)
8g.1858037A>GCA369954912ARHGEF10c.115A>G (p.Ile39Val)
c.574A>G
c.*66A>G (n.*66A>G)
c.505A>G
c.187A>G (p.Ile63Val)
c.70A>G (p.Ile24Val)
c.199A>G (p.Ile67Val)
 dbSNP
8g.1858037A>TCA369954913ARHGEF10c.115A>T (p.Ile39Phe)
c.574A>T
c.*66A>T (n.*66A>T)
c.505A>T
c.187A>T (p.Ile63Phe)
c.70A>T (p.Ile24Phe)
c.199A>T (p.Ile67Phe)
8g.1858038T>ACA369954914ARHGEF10c.116T>A (p.Ile39Asn)
c.575T>A
c.*67T>A (n.*67T>A)
c.506T>A
c.188T>A (p.Ile63Asn)
c.71T>A (p.Ile24Asn)
c.200T>A (p.Ile67Asn)
8g.1858038T>CCA369954915ARHGEF10c.116T>C (p.Ile39Thr)
c.575T>C
c.*67T>C (n.*67T>C)
c.506T>C
c.188T>C (p.Ile63Thr)
c.71T>C (p.Ile24Thr)
c.200T>C (p.Ile67Thr)
8g.1858038T>GCA369954916ARHGEF10c.116T>G (p.Ile39Ser)
c.575T>G
c.*67T>G (n.*67T>G)
c.506T>G
c.188T>G (p.Ile63Ser)
c.71T>G (p.Ile24Ser)
c.200T>G (p.Ile67Ser)
8g.1858039C>ACA459054385ARHGEF10c.117C>A (p.Ile39=)
c.576C>A
c.*68C>A (n.*68C>A)
c.507C>A
c.189C>A (p.Ile63=)
c.72C>A (p.Ile24=)
c.201C>A (p.Ile67=)
8g.1858039C=CA1757725790ARHGEF10c.117C= (p.Ile39=)
c.576C=
c.*68C= (n.*68C=)
c.507C=
c.189C= (p.Ile63=)
c.72C= (p.Ile24=)
c.201C= (p.Ile67=)
8g.1858039C>GCA369954917ARHGEF10c.117C>G (p.Ile39Met)
c.576C>G
c.*68C>G (n.*68C>G)
c.507C>G
c.189C>G (p.Ile63Met)
c.72C>G (p.Ile24Met)
c.201C>G (p.Ile67Met)
8g.1858039C>TCA459054388ARHGEF10c.117C>T (p.Ile39=)
c.576C>T
c.*68C>T (n.*68C>T)
c.507C>T
c.189C>T (p.Ile63=)
c.72C>T (p.Ile24=)
c.201C>T (p.Ile67=)
 dbSNP gnomAD v3 gnomAD v4
8g.1858040C>ACA369954920ARHGEF10c.118C>A (p.Pro40Thr)
c.577C>A
c.*69C>A (n.*69C>A)
c.508C>A
c.190C>A (p.Pro64Thr)
c.73C>A (p.Pro25Thr)
c.202C>A (p.Pro68Thr)
8g.1858040C=CA1757725796ARHGEF10c.118C= (p.Pro40=)
c.577C=
c.*69C= (n.*69C=)
c.508C=
c.190C= (p.Pro64=)
c.73C= (p.Pro25=)
c.202C= (p.Pro68=)
8g.1858040C>GCA369954918ARHGEF10c.118C>G (p.Pro40Ala)
c.577C>G
c.*69C>G (n.*69C>G)
c.508C>G
c.190C>G (p.Pro64Ala)
c.73C>G (p.Pro25Ala)
c.202C>G (p.Pro68Ala)
8g.1858040C>TCA369954919ARHGEF10c.118C>T (p.Pro40Ser)
c.577C>T
c.*69C>T (n.*69C>T)
c.508C>T
c.190C>T (p.Pro64Ser)
c.73C>T (p.Pro25Ser)
c.202C>T (p.Pro68Ser)
 dbSNP gnomAD v4
8g.1858041C>ACA369954921ARHGEF10c.119C>A (p.Pro40Gln)
c.578C>A
c.*70C>A (n.*70C>A)
c.509C>A
c.191C>A (p.Pro64Gln)
c.74C>A (p.Pro25Gln)
c.203C>A (p.Pro68Gln)
8g.1858041C=CA1757725798ARHGEF10c.119C= (p.Pro40=)
c.578C=
c.*70C= (n.*70C=)
c.509C=
c.191C= (p.Pro64=)
c.74C= (p.Pro25=)
c.203C= (p.Pro68=)
8g.1858041C>GCA369954922ARHGEF10c.119C>G (p.Pro40Arg)
c.578C>G
c.*70C>G (n.*70C>G)
c.509C>G
c.191C>G (p.Pro64Arg)
c.74C>G (p.Pro25Arg)
c.203C>G (p.Pro68Arg)
8g.1858041C>TCA369954923ARHGEF10c.119C>T (p.Pro40Leu)
c.578C>T
c.*70C>T (n.*70C>T)
c.509C>T
c.191C>T (p.Pro64Leu)
c.74C>T (p.Pro25Leu)
c.203C>T (p.Pro68Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.1858042A=CA1757725802ARHGEF10c.120A= (p.Pro40=)
c.579A=
c.*71A= (n.*71A=)
c.510A=
c.192A= (p.Pro64=)
c.75A= (p.Pro25=)
c.204A= (p.Pro68=)
8g.1858042A>CCA459054396ARHGEF10c.120A>C (p.Pro40=)
c.579A>C
c.*71A>C (n.*71A>C)
c.510A>C
c.192A>C (p.Pro64=)
c.75A>C (p.Pro25=)
c.204A>C (p.Pro68=)
8g.1858042A>GCA459054398ARHGEF10c.120A>G (p.Pro40=)
c.579A>G
c.*71A>G (n.*71A>G)
c.510A>G
c.192A>G (p.Pro64=)
c.75A>G (p.Pro25=)
c.204A>G (p.Pro68=)
 dbSNP gnomAD v2 gnomAD v4
8g.1858042A>TCA459054400ARHGEF10c.120A>T (p.Pro40=)
c.579A>T
c.*71A>T (n.*71A>T)
c.510A>T
c.192A>T (p.Pro64=)
c.75A>T (p.Pro25=)
c.204A>T (p.Pro68=)
8g.1858043G>ACA369954924ARHGEF10c.121G>A (p.Glu41Lys)
c.580G>A
c.*72G>A (n.*72G>A)
c.511G>A
c.193G>A (p.Glu65Lys)
c.76G>A (p.Glu26Lys)
c.205G>A (p.Glu69Lys)
8g.1858043G>CCA4599591ARHGEF10c.121G>C (p.Glu41Gln)
c.580G>C
c.*72G>C (n.*72G>C)
c.511G>C
c.193G>C (p.Glu65Gln)
c.76G>C (p.Glu26Gln)
c.205G>C (p.Glu69Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858043G=CA1757725806ARHGEF10c.121G= (p.Glu41=)
c.580G=
c.*72G= (n.*72G=)
c.511G=
c.193G= (p.Glu65=)
c.76G= (p.Glu26=)
c.205G= (p.Glu69=)
8g.1858043G>TCA369954925ARHGEF10c.121G>T (p.Glu41Ter)
c.580G>T
c.*72G>T (n.*72G>T)
c.511G>T
c.193G>T (p.Glu65Ter)
c.76G>T (p.Glu26Ter)
c.205G>T (p.Glu69Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.1858044A=CA1757725811ARHGEF10c.122A= (p.Glu41=)
c.581A=
c.*73A= (n.*73A=)
c.512A=
c.194A= (p.Glu65=)
c.77A= (p.Glu26=)
c.206A= (p.Glu69=)
8g.1858044A>CCA369954926ARHGEF10c.122A>C (p.Glu41Ala)
c.581A>C
c.*73A>C (n.*73A>C)
c.512A>C
c.194A>C (p.Glu65Ala)
c.77A>C (p.Glu26Ala)
c.206A>C (p.Glu69Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.1858044A>GCA369954927ARHGEF10c.122A>G (p.Glu41Gly)
c.581A>G
c.*73A>G (n.*73A>G)
c.512A>G
c.194A>G (p.Glu65Gly)
c.77A>G (p.Glu26Gly)
c.206A>G (p.Glu69Gly)
8g.1858044A>TCA369954928ARHGEF10c.122A>T (p.Glu41Val)
c.581A>T
c.*73A>T (n.*73A>T)
c.512A>T
c.194A>T (p.Glu65Val)
c.77A>T (p.Glu26Val)
c.206A>T (p.Glu69Val)
8g.1858045A>CCA369954929ARHGEF10c.123A>C (p.Glu41Asp)
c.582A>C
c.*74A>C (n.*74A>C)
c.513A>C
c.195A>C (p.Glu65Asp)
c.78A>C (p.Glu26Asp)
c.207A>C (p.Glu69Asp)
8g.1858045A>GCA459054409ARHGEF10c.123A>G (p.Glu41=)
c.582A>G
c.*74A>G (n.*74A>G)
c.513A>G
c.195A>G (p.Glu65=)
c.78A>G (p.Glu26=)
c.207A>G (p.Glu69=)
8g.1858045A>TCA369954930ARHGEF10c.123A>T (p.Glu41Asp)
c.582A>T
c.*74A>T (n.*74A>T)
c.513A>T
c.195A>T (p.Glu65Asp)
c.78A>T (p.Glu26Asp)
c.207A>T (p.Glu69Asp)
8g.1858046G>ACA369954933ARHGEF10c.124G>A (p.Ala42Thr)
c.583G>A
c.*75G>A (n.*75G>A)
c.514G>A
c.196G>A (p.Ala66Thr)
c.79G>A (p.Ala27Thr)
c.208G>A (p.Ala70Thr)
8g.1858046G>CCA369954931ARHGEF10c.124G>C (p.Ala42Pro)
c.583G>C
c.*75G>C (n.*75G>C)
c.514G>C
c.196G>C (p.Ala66Pro)
c.79G>C (p.Ala27Pro)
c.208G>C (p.Ala70Pro)
8g.1858046G>TCA369954932ARHGEF10c.124G>T (p.Ala42Ser)
c.583G>T
c.*75G>T (n.*75G>T)
c.514G>T
c.196G>T (p.Ala66Ser)
c.79G>T (p.Ala27Ser)
c.208G>T (p.Ala70Ser)
8g.1858047C>ACA369954934ARHGEF10c.125C>A (p.Ala42Glu)
c.584C>A
c.*76C>A (n.*76C>A)
c.515C>A
c.197C>A (p.Ala66Glu)
c.80C>A (p.Ala27Glu)
c.209C>A (p.Ala70Glu)
8g.1858047C=CA1757725816ARHGEF10c.125C= (p.Ala42=)
c.584C=
c.*76C= (n.*76C=)
c.515C=
c.197C= (p.Ala66=)
c.80C= (p.Ala27=)
c.209C= (p.Ala70=)
8g.1858047C>GCA4599593ARHGEF10c.125C>G (p.Ala42Gly)
c.584C>G
c.*76C>G (n.*76C>G)
c.515C>G
c.197C>G (p.Ala66Gly)
c.80C>G (p.Ala27Gly)
c.209C>G (p.Ala70Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858047C>TCA4599592ARHGEF10c.125C>T (p.Ala42Val)
c.584C>T
c.*76C>T (n.*76C>T)
c.515C>T
c.197C>T (p.Ala66Val)
c.80C>T (p.Ala27Val)
c.209C>T (p.Ala70Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858048G>ACA4599594ARHGEF10c.126G>A (p.Ala42=)
c.585G>A
c.*77G>A (n.*77G>A)
c.516G>A
c.198G>A (p.Ala66=)
c.81G>A (p.Ala27=)
c.210G>A (p.Ala70=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858048G>CCA459054419ARHGEF10c.126G>C (p.Ala42=)
c.585G>C
c.*77G>C (n.*77G>C)
c.516G>C
c.198G>C (p.Ala66=)
c.81G>C (p.Ala27=)
c.210G>C (p.Ala70=)
 dbSNP gnomAD v4
8g.1858048G=CA1757725821ARHGEF10c.126G= (p.Ala42=)
c.585G=
c.*77G= (n.*77G=)
c.516G=
c.198G= (p.Ala66=)
c.81G= (p.Ala27=)
c.210G= (p.Ala70=)
8g.1858048G>TCA459054421ARHGEF10c.126G>T (p.Ala42=)
c.585G>T
c.*77G>T (n.*77G>T)
c.516G>T
c.198G>T (p.Ala66=)
c.81G>T (p.Ala27=)
c.210G>T (p.Ala70=)
 dbSNP gnomAD v2 gnomAD v4
8g.1858049G>ACA369954935ARHGEF10c.127G>A (p.Asp43Asn)
c.586G>A
c.*78G>A (n.*78G>A)
c.517G>A
c.199G>A (p.Asp67Asn)
c.82G>A (p.Asp28Asn)
c.211G>A (p.Asp71Asn)
8g.1858049G>CCA4599596ARHGEF10c.127G>C (p.Asp43His)
c.586G>C
c.*78G>C (n.*78G>C)
c.517G>C
c.199G>C (p.Asp67His)
c.82G>C (p.Asp28His)
c.211G>C (p.Asp71His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858049G=CA1757725830ARHGEF10c.127G= (p.Asp43=)
c.586G=
c.*78G= (n.*78G=)
c.517G=
c.199G= (p.Asp67=)
c.82G= (p.Asp28=)
c.211G= (p.Asp71=)
8g.1858049G>TCA4599595ARHGEF10c.127G>T (p.Asp43Tyr)
c.586G>T
c.*78G>T (n.*78G>T)
c.517G>T
c.199G>T (p.Asp67Tyr)
c.82G>T (p.Asp28Tyr)
c.211G>T (p.Asp71Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858050A>CCA369954936ARHGEF10c.128A>C (p.Asp43Ala)
c.587A>C
c.*79A>C (n.*79A>C)
c.518A>C
c.200A>C (p.Asp67Ala)
c.83A>C (p.Asp28Ala)
c.212A>C (p.Asp71Ala)
8g.1858050A>GCA369954937ARHGEF10c.128A>G (p.Asp43Gly)
c.587A>G
c.*79A>G (n.*79A>G)
c.518A>G
c.200A>G (p.Asp67Gly)
c.83A>G (p.Asp28Gly)
c.212A>G (p.Asp71Gly)
8g.1858050A>TCA369954938ARHGEF10c.128A>T (p.Asp43Val)
c.587A>T
c.*79A>T (n.*79A>T)
c.518A>T
c.200A>T (p.Asp67Val)
c.83A>T (p.Asp28Val)
c.212A>T (p.Asp71Val)
8g.1858051C>ACA369954939ARHGEF10c.129C>A (p.Asp43Glu)
c.588C>A
c.*80C>A (n.*80C>A)
c.519C>A
c.201C>A (p.Asp67Glu)
c.84C>A (p.Asp28Glu)
c.213C>A (p.Asp71Glu)
8g.1858051C>GCA369954940ARHGEF10c.129C>G (p.Asp43Glu)
c.588C>G
c.*80C>G (n.*80C>G)
c.519C>G
c.201C>G (p.Asp67Glu)
c.84C>G (p.Asp28Glu)
c.213C>G (p.Asp71Glu)
8g.1858051C>TCA459054433ARHGEF10c.129C>T (p.Asp43=)
c.588C>T
c.*80C>T (n.*80C>T)
c.519C>T
c.201C>T (p.Asp67=)
c.84C>T (p.Asp28=)
c.213C>T (p.Asp71=)
 gnomAD v4
8g.1858052A>CCA459054436ARHGEF10c.130A>C (p.Arg44=)
c.589A>C
c.*81A>C (n.*81A>C)
c.520A>C
c.202A>C (p.Arg68=)
c.85A>C (p.Arg29=)
c.214A>C (p.Arg72=)
8g.1858052A>GCA369954942ARHGEF10c.130A>G (p.Arg44Gly)
c.589A>G
c.*81A>G (n.*81A>G)
c.520A>G
c.202A>G (p.Arg68Gly)
c.85A>G (p.Arg29Gly)
c.214A>G (p.Arg72Gly)
 gnomAD v4
8g.1858052A>TCA369954941ARHGEF10c.130A>T (p.Arg44Ter)
c.589A>T
c.*81A>T (n.*81A>T)
c.520A>T
c.202A>T (p.Arg68Ter)
c.85A>T (p.Arg29Ter)
c.214A>T (p.Arg72Ter)
8g.1858053G>ACA369954943ARHGEF10c.131G>A (p.Arg44Lys)
c.590G>A
c.*82G>A (n.*82G>A)
c.521G>A
c.203G>A (p.Arg68Lys)
c.86G>A (p.Arg29Lys)
c.215G>A (p.Arg72Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.1858053G>CCA369954945ARHGEF10c.131G>C (p.Arg44Thr)
c.590G>C
c.*82G>C (n.*82G>C)
c.521G>C
c.203G>C (p.Arg68Thr)
c.86G>C (p.Arg29Thr)
c.215G>C (p.Arg72Thr)
 dbSNP gnomAD v4
8g.1858053G=CA1757725839ARHGEF10c.131G= (p.Arg44=)
c.590G=
c.*82G= (n.*82G=)
c.521G=
c.203G= (p.Arg68=)
c.86G= (p.Arg29=)
c.215G= (p.Arg72=)
8g.1858053G>TCA369954944ARHGEF10c.131G>T (p.Arg44Ile)
c.590G>T
c.*82G>T (n.*82G>T)
c.521G>T
c.203G>T (p.Arg68Ile)
c.86G>T (p.Arg29Ile)
c.215G>T (p.Arg72Ile)
8g.1858054A>CCA369954946ARHGEF10c.132A>C (p.Arg44Ser)
c.591A>C
c.*83A>C (n.*83A>C)
c.522A>C
c.204A>C (p.Arg68Ser)
c.87A>C (p.Arg29Ser)
c.216A>C (p.Arg72Ser)
 gnomAD v4
8g.1858054A>GCA459054444ARHGEF10c.132A>G (p.Arg44=)
c.591A>G
c.*83A>G (n.*83A>G)
c.522A>G
c.204A>G (p.Arg68=)
c.87A>G (p.Arg29=)
c.216A>G (p.Arg72=)
8g.1858054A>TCA369954947ARHGEF10c.132A>T (p.Arg44Ser)
c.591A>T
c.*83A>T (n.*83A>T)
c.522A>T
c.204A>T (p.Arg68Ser)
c.87A>T (p.Arg29Ser)
c.216A>T (p.Arg72Ser)
8g.1858055C>ACA369954948ARHGEF10c.133C>A (p.Gln45Lys)
c.592C>A
c.*84C>A (n.*84C>A)
c.523C>A
c.205C>A (p.Gln69Lys)
c.88C>A (p.Gln30Lys)
c.217C>A (p.Gln73Lys)
8g.1858055C=CA1757725848ARHGEF10c.133C= (p.Gln45=)
c.592C=
c.*84C= (n.*84C=)
c.523C=
c.205C= (p.Gln69=)
c.88C= (p.Gln30=)
c.217C= (p.Gln73=)
8g.1858055C>GCA369954949ARHGEF10c.133C>G (p.Gln45Glu)
c.592C>G
c.*84C>G (n.*84C>G)
c.523C>G
c.205C>G (p.Gln69Glu)
c.88C>G (p.Gln30Glu)
c.217C>G (p.Gln73Glu)
 gnomAD v4
8g.1858055C>TCA369954950ARHGEF10c.133C>T (p.Gln45Ter)
c.592C>T
c.*84C>T (n.*84C>T)
c.523C>T
c.205C>T (p.Gln69Ter)
c.88C>T (p.Gln30Ter)
c.217C>T (p.Gln73Ter)
 ClinVar dbSNP gnomAD v4
8g.1858056A=CA1757725851ARHGEF10c.134A= (p.Gln45=)
c.593A=
c.*85A= (n.*85A=)
c.524A=
c.206A= (p.Gln69=)
c.89A= (p.Gln30=)
c.218A= (p.Gln73=)
8g.1858056A>CCA4599597ARHGEF10c.134A>C (p.Gln45Pro)
c.593A>C
c.*85A>C (n.*85A>C)
c.524A>C
c.206A>C (p.Gln69Pro)
c.89A>C (p.Gln30Pro)
c.218A>C (p.Gln73Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858056A>GCA369954951ARHGEF10c.134A>G (p.Gln45Arg)
c.593A>G
c.*85A>G (n.*85A>G)
c.524A>G
c.206A>G (p.Gln69Arg)
c.89A>G (p.Gln30Arg)
c.218A>G (p.Gln73Arg)
8g.1858056A>TCA369954952ARHGEF10c.134A>T (p.Gln45Leu)
c.593A>T
c.*85A>T (n.*85A>T)
c.524A>T
c.206A>T (p.Gln69Leu)
c.89A>T (p.Gln30Leu)
c.218A>T (p.Gln73Leu)
8g.1858057G>ACA459054453ARHGEF10c.135G>A (p.Gln45=)
c.594G>A
c.*86G>A (n.*86G>A)
c.525G>A
c.207G>A (p.Gln69=)
c.90G>A (p.Gln30=)
c.219G>A (p.Gln73=)
8g.1858057G>CCA369954953ARHGEF10c.135G>C (p.Gln45His)
c.594G>C
c.*86G>C (n.*86G>C)
c.525G>C
c.207G>C (p.Gln69His)
c.90G>C (p.Gln30His)
c.219G>C (p.Gln73His)
8g.1858057G>TCA369954954ARHGEF10c.135G>T (p.Gln45His)
c.594G>T
c.*86G>T (n.*86G>T)
c.525G>T
c.207G>T (p.Gln69His)
c.90G>T (p.Gln30His)
c.219G>T (p.Gln73His)
8g.1858058G>ACA369954955ARHGEF10c.136G>A (p.Ala46Thr)
c.595G>A
c.*87G>A (n.*87G>A)
c.526G>A
c.208G>A (p.Ala70Thr)
c.91G>A (p.Ala31Thr)
c.220G>A (p.Ala74Thr)
8g.1858058G>CCA369954956ARHGEF10c.136G>C (p.Ala46Pro)
c.595G>C
c.*87G>C (n.*87G>C)
c.526G>C
c.208G>C (p.Ala70Pro)
c.91G>C (p.Ala31Pro)
c.220G>C (p.Ala74Pro)
8g.1858058G=CA1757725853ARHGEF10c.136G= (p.Ala46=)
c.595G=
c.*87G= (n.*87G=)
c.526G=
c.208G= (p.Ala70=)
c.91G= (p.Ala31=)
c.220G= (p.Ala74=)
8g.1858058G>TCA4599598ARHGEF10c.136G>T (p.Ala46Ser)
c.595G>T
c.*87G>T (n.*87G>T)
c.526G>T
c.208G>T (p.Ala70Ser)
c.91G>T (p.Ala31Ser)
c.220G>T (p.Ala74Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858059C>ACA369954958ARHGEF10c.137C>A (p.Ala46Asp)
c.596C>A
c.*88C>A (n.*88C>A)
c.527C>A
c.209C>A (p.Ala70Asp)
c.92C>A (p.Ala31Asp)
c.221C>A (p.Ala74Asp)
8g.1858059C=CA1757725857ARHGEF10c.137C= (p.Ala46=)
c.596C=
c.*88C= (n.*88C=)
c.527C=
c.209C= (p.Ala70=)
c.92C= (p.Ala31=)
c.221C= (p.Ala74=)
8g.1858059C>GCA369954957ARHGEF10c.137C>G (p.Ala46Gly)
c.596C>G
c.*88C>G (n.*88C>G)
c.527C>G
c.209C>G (p.Ala70Gly)
c.92C>G (p.Ala31Gly)
c.221C>G (p.Ala74Gly)
8g.1858059C>TCA4599599ARHGEF10c.137C>T (p.Ala46Val)
c.596C>T
c.*88C>T (n.*88C>T)
c.527C>T
c.209C>T (p.Ala70Val)
c.92C>T (p.Ala31Val)
c.221C>T (p.Ala74Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858060C>ACA459054463ARHGEF10c.138C>A (p.Ala46=)
c.597C>A
c.*89C>A (n.*89C>A)
c.528C>A
c.210C>A (p.Ala70=)
c.93C>A (p.Ala31=)
c.222C>A (p.Ala74=)
8g.1858060C=CA1757725859ARHGEF10c.138C= (p.Ala46=)
c.597C=
c.*89C= (n.*89C=)
c.528C=
c.210C= (p.Ala70=)
c.93C= (p.Ala31=)
c.222C= (p.Ala74=)
8g.1858060C>GCA4599600ARHGEF10c.138C>G (p.Ala46=)
c.597C>G
c.*89C>G (n.*89C>G)
c.528C>G
c.210C>G (p.Ala70=)
c.93C>G (p.Ala31=)
c.222C>G (p.Ala74=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858060C>TCA459054465ARHGEF10c.138C>T (p.Ala46=)
c.597C>T
c.*89C>T (n.*89C>T)
c.528C>T
c.210C>T (p.Ala70=)
c.93C>T (p.Ala31=)
c.222C>T (p.Ala74=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1858061C>ACA4599602ARHGEF10c.139C>A (p.Pro47Thr)
c.598C>A
c.*90C>A (n.*90C>A)
c.529C>A
c.211C>A (p.Pro71Thr)
c.94C>A (p.Pro32Thr)
c.223C>A (p.Pro75Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858061C=CA1757725861ARHGEF10c.139C= (p.Pro47=)
c.598C=
c.*90C= (n.*90C=)
c.529C=
c.211C= (p.Pro71=)
c.94C= (p.Pro32=)
c.223C= (p.Pro75=)
8g.1858061C>GCA369954959ARHGEF10c.139C>G (p.Pro47Ala)
c.598C>G
c.*90C>G (n.*90C>G)
c.529C>G
c.211C>G (p.Pro71Ala)
c.94C>G (p.Pro32Ala)
c.223C>G (p.Pro75Ala)
 gnomAD v4
8g.1858061C>TCA4599601ARHGEF10c.139C>T (p.Pro47Ser)
c.598C>T
c.*90C>T (n.*90C>T)
c.529C>T
c.211C>T (p.Pro71Ser)
c.94C>T (p.Pro32Ser)
c.223C>T (p.Pro75Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858061_1858062insAACACACCCAACACA2778740854ARHGEF10c.139_140insAACACACCCAACA (p.Pro47GlnfsTer9)
c.598_599insAACACACCCAACA
c.*90_*91insAACACACCCAACA (n.*90_*91insAACACACCCAACA)
c.529_530insAACACACCCAACA
c.211_212insAACACACCCAACA (p.Pro71GlnfsTer9)
c.94_95insAACACACCCAACA (p.Pro32GlnfsTer9)
c.223_224insAACACACCCAACA (p.Pro75GlnfsTer9)
8g.1858062C>ACA369954960ARHGEF10c.140C>A (p.Pro47Gln)
c.599C>A
c.*91C>A (n.*91C>A)
c.530C>A
c.212C>A (p.Pro71Gln)
c.95C>A (p.Pro32Gln)
c.224C>A (p.Pro75Gln)
 gnomAD v4
8g.1858062C>GCA369954961ARHGEF10c.140C>G (p.Pro47Arg)
c.599C>G
c.*91C>G (n.*91C>G)
c.530C>G
c.212C>G (p.Pro71Arg)
c.95C>G (p.Pro32Arg)
c.224C>G (p.Pro75Arg)
8g.1858062C>TCA369954962ARHGEF10c.140C>T (p.Pro47Leu)
c.599C>T
c.*91C>T (n.*91C>T)
c.530C>T
c.212C>T (p.Pro71Leu)
c.95C>T (p.Pro32Leu)
c.224C>T (p.Pro75Leu)
8g.1858062_1858063insCTCCGCCCCTGCA2590771586ARHGEF10c.140_141insCTCCGCCCCTG (p.Glu51AspfsTer?)
c.599_600insCTCCGCCCCTG
c.*91_*92insCTCCGCCCCTG (n.*91_*92insCTCCGCCCCTG)
c.530_531insCTCCGCCCCTG
c.212_213insCTCCGCCCCTG (p.Glu75AspfsTer?)
c.95_96insCTCCGCCCCTG (p.Glu36AspfsTer?)
c.224_225insCTCCGCCCCTG (p.Glu79AspfsTer?)
 gnomAD v3 gnomAD v4
8g.1858063A=CA1630835031ARHGEF10c.141A= (p.Pro47=)
c.600A=
c.*92A= (n.*92A=)
c.531A=
c.213A= (p.Pro71=)
c.96A= (p.Pro32=)
c.225A= (p.Pro75=)
8g.1858063A>CCA4599603ARHGEF10c.141A>C (p.Pro47=)
c.600A>C
c.*92A>C (n.*92A>C)
c.531A>C
c.213A>C (p.Pro71=)
c.96A>C (p.Pro32=)
c.225A>C (p.Pro75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858063A>GCA4599604ARHGEF10c.141A>G (p.Pro47=)
c.600A>G
c.*92A>G (n.*92A>G)
c.531A>G
c.213A>G (p.Pro71=)
c.96A>G (p.Pro32=)
c.225A>G (p.Pro75=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858063A>TCA459054477ARHGEF10c.141A>T (p.Pro47=)
c.600A>T
c.*92A>T (n.*92A>T)
c.531A>T
c.213A>T (p.Pro71=)
c.96A>T (p.Pro32=)
c.225A>T (p.Pro75=)
8g.1858064T>ACA369954963ARHGEF10c.142T>A (p.Ser48Thr)
c.601T>A
c.*93T>A (n.*93T>A)
c.532T>A
c.214T>A (p.Ser72Thr)
c.97T>A (p.Ser33Thr)
c.226T>A (p.Ser76Thr)
8g.1858064T>CCA369954964ARHGEF10c.142T>C (p.Ser48Pro)
c.601T>C
c.*93T>C (n.*93T>C)
c.532T>C
c.214T>C (p.Ser72Pro)
c.97T>C (p.Ser33Pro)
c.226T>C (p.Ser76Pro)
8g.1858064T>GCA369954965ARHGEF10c.142T>G (p.Ser48Ala)
c.601T>G
c.*93T>G (n.*93T>G)
c.532T>G
c.214T>G (p.Ser72Ala)
c.97T>G (p.Ser33Ala)
c.226T>G (p.Ser76Ala)
8g.1858065C>ACA369954968ARHGEF10c.143C>A (p.Ser48Tyr)
c.602C>A
c.*94C>A (n.*94C>A)
c.533C>A
c.215C>A (p.Ser72Tyr)
c.98C>A (p.Ser33Tyr)
c.227C>A (p.Ser76Tyr)
8g.1858065C=CA1757725872ARHGEF10c.143C= (p.Ser48=)
c.602C=
c.*94C= (n.*94C=)
c.533C=
c.215C= (p.Ser72=)
c.98C= (p.Ser33=)
c.227C= (p.Ser76=)
8g.1858065C>GCA369954967ARHGEF10c.143C>G (p.Ser48Cys)
c.602C>G
c.*94C>G (n.*94C>G)
c.533C>G
c.215C>G (p.Ser72Cys)
c.98C>G (p.Ser33Cys)
c.227C>G (p.Ser76Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.1858065C>TCA369954966ARHGEF10c.143C>T (p.Ser48Phe)
c.602C>T
c.*94C>T (n.*94C>T)
c.533C>T
c.215C>T (p.Ser72Phe)
c.98C>T (p.Ser33Phe)
c.227C>T (p.Ser76Phe)
8g.1858066C>ACA459054488ARHGEF10c.144C>A (p.Ser48=)
c.603C>A
c.*95C>A (n.*95C>A)
c.534C>A
c.216C>A (p.Ser72=)
c.99C>A (p.Ser33=)
c.228C>A (p.Ser76=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.1858066C=CA1757725877ARHGEF10c.144C= (p.Ser48=)
c.603C=
c.*95C= (n.*95C=)
c.534C=
c.216C= (p.Ser72=)
c.99C= (p.Ser33=)
c.228C= (p.Ser76=)
8g.1858066C>GCA459054486ARHGEF10c.144C>G (p.Ser48=)
c.603C>G
c.*95C>G (n.*95C>G)
c.534C>G
c.216C>G (p.Ser72=)
c.99C>G (p.Ser33=)
c.228C>G (p.Ser76=)
8g.1858066C>TCA4599605ARHGEF10c.144C>T (p.Ser48=)
c.603C>T
c.*95C>T (n.*95C>T)
c.534C>T
c.216C>T (p.Ser72=)
c.99C>T (p.Ser33=)
c.228C>T (p.Ser76=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.1858067G>ACA4599606ARHGEF10c.145G>A (p.Ala49Thr)
c.604G>A
c.*96G>A (n.*96G>A)
c.535G>A
c.217G>A (p.Ala73Thr)
c.100G>A (p.Ala34Thr)
c.229G>A (p.Ala77Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858067G>CCA4599607ARHGEF10c.145G>C (p.Ala49Pro)
c.604G>C
c.*96G>C (n.*96G>C)
c.535G>C
c.217G>C (p.Ala73Pro)
c.100G>C (p.Ala34Pro)
c.229G>C (p.Ala77Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858067G=CA1757725882ARHGEF10c.145G= (p.Ala49=)
c.604G=
c.*96G= (n.*96G=)
c.535G=
c.217G= (p.Ala73=)
c.100G= (p.Ala34=)
c.229G= (p.Ala77=)
8g.1858067G>TCA369954969ARHGEF10c.145G>T (p.Ala49Ser)
c.604G>T
c.*96G>T (n.*96G>T)
c.535G>T
c.217G>T (p.Ala73Ser)
c.100G>T (p.Ala34Ser)
c.229G>T (p.Ala77Ser)
 gnomAD v4
8g.1858068C>ACA369954970ARHGEF10c.146C>A (p.Ala49Asp)
c.605C>A
c.*97C>A (n.*97C>A)
c.536C>A
c.218C>A (p.Ala73Asp)
c.101C>A (p.Ala34Asp)
c.230C>A (p.Ala77Asp)
8g.1858068C=CA1757725886ARHGEF10c.146C= (p.Ala49=)
c.605C=
c.*97C= (n.*97C=)
c.536C=
c.218C= (p.Ala73=)
c.101C= (p.Ala34=)
c.230C= (p.Ala77=)
8g.1858068C>GCA369954971ARHGEF10c.146C>G (p.Ala49Gly)
c.605C>G
c.*97C>G (n.*97C>G)
c.536C>G
c.218C>G (p.Ala73Gly)
c.101C>G (p.Ala34Gly)
c.230C>G (p.Ala77Gly)
8g.1858068C>TCA4599608ARHGEF10c.146C>T (p.Ala49Val)
c.605C>T
c.*97C>T (n.*97C>T)
c.536C>T
c.218C>T (p.Ala73Val)
c.101C>T (p.Ala34Val)
c.230C>T (p.Ala77Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858069C>ACA170588672ARHGEF10c.147C>A (p.Ala49=)
c.606C>A
c.*98C>A (n.*98C>A)
c.537C>A
c.219C>A (p.Ala73=)
c.102C>A (p.Ala34=)
c.231C>A (p.Ala77=)
 dbSNP gnomAD v2 gnomAD v4
8g.1858069C=CA1757725889ARHGEF10c.147C= (p.Ala49=)
c.606C=
c.*98C= (n.*98C=)
c.537C=
c.219C= (p.Ala73=)
c.102C= (p.Ala34=)
c.231C= (p.Ala77=)
8g.1858069C>GCA459054499ARHGEF10c.147C>G (p.Ala49=)
c.606C>G
c.*98C>G (n.*98C>G)
c.537C>G
c.219C>G (p.Ala73=)
c.102C>G (p.Ala34=)
c.231C>G (p.Ala77=)
8g.1858069C>TCA459054501ARHGEF10c.147C>T (p.Ala49=)
c.606C>T
c.*98C>T (n.*98C>T)
c.537C>T
c.219C>T (p.Ala73=)
c.102C>T (p.Ala34=)
c.231C>T (p.Ala77=)
 dbSNP gnomAD v2 gnomAD v4
8g.1858070C>ACA369954972ARHGEF10c.148C>A (p.Pro50Thr)
c.607C>A
c.*99C>A (n.*99C>A)
c.538C>A
c.220C>A (p.Pro74Thr)
c.103C>A (p.Pro35Thr)
c.232C>A (p.Pro78Thr)
 gnomAD v4
8g.1858070C>GCA369954973ARHGEF10c.148C>G (p.Pro50Ala)
c.607C>G
c.*99C>G (n.*99C>G)
c.538C>G
c.220C>G (p.Pro74Ala)
c.103C>G (p.Pro35Ala)
c.232C>G (p.Pro78Ala)
 gnomAD v4
8g.1858070C>TCA369954974ARHGEF10c.148C>T (p.Pro50Ser)
c.607C>T
c.*99C>T (n.*99C>T)
c.538C>T
c.220C>T (p.Pro74Ser)
c.103C>T (p.Pro35Ser)
c.232C>T (p.Pro78Ser)
 gnomAD v4
8g.1858070_1858072delinsCCTCA1757725894ARHGEF10c.148_150delinsCCT (p.Pro50=)
c.607_609delinsCCT
c.*99_*101delinsCCT (n.*99_*101delinsCCT)
c.538_540delinsCCT
c.220_222delinsCCT (p.Pro74=)
c.103_105delinsCCT (p.Pro35=)
c.232_234delinsCCT (p.Pro78=)
8g.1858071C>ACA369954975ARHGEF10c.149C>A (p.Pro50His)
c.608C>A
c.*100C>A (n.*100C>A)
c.539C>A
c.221C>A (p.Pro74His)
c.104C>A (p.Pro35His)
c.233C>A (p.Pro78His)
8g.1858071C>GCA369954976ARHGEF10c.149C>G (p.Pro50Arg)
c.608C>G
c.*100C>G (n.*100C>G)
c.539C>G
c.221C>G (p.Pro74Arg)
c.104C>G (p.Pro35Arg)
c.233C>G (p.Pro78Arg)
8g.1858071C>TCA369954977ARHGEF10c.149C>T (p.Pro50Leu)
c.608C>T
c.*100C>T (n.*100C>T)
c.539C>T
c.221C>T (p.Pro74Leu)
c.104C>T (p.Pro35Leu)
c.233C>T (p.Pro78Leu)
8g.1858071_1858072delCA1757725896ARHGEF10c.149_150del (p.Pro50ArgfsTer9)
c.608_609del
c.*100_*101del (n.*100_*101del)
c.539_540del
c.221_222del (p.Pro74ArgfsTer9)
c.104_105del (p.Pro35ArgfsTer9)
c.233_234del (p.Pro78ArgfsTer9)
 dbSNP gnomAD v4
8g.1858072T>ACA459054510ARHGEF10c.150T>A (p.Pro50=)
c.609T>A
c.*101T>A (n.*101T>A)
c.540T>A
c.222T>A (p.Pro74=)
c.105T>A (p.Pro35=)
c.234T>A (p.Pro78=)
8g.1858072T>CCA459054514ARHGEF10c.150T>C (p.Pro50=)
c.609T>C
c.*101T>C (n.*101T>C)
c.540T>C
c.222T>C (p.Pro74=)
c.105T>C (p.Pro35=)
c.234T>C (p.Pro78=)
8g.1858072T>GCA459054512ARHGEF10c.150T>G (p.Pro50=)
c.609T>G
c.*101T>G (n.*101T>G)
c.540T>G
c.222T>G (p.Pro74=)
c.105T>G (p.Pro35=)
c.234T>G (p.Pro78=)
 gnomAD v4
8g.1858073G>ACA4599609ARHGEF10c.151G>A (p.Glu51Lys)
c.610G>A
c.*102G>A (n.*102G>A)
c.541G>A
c.223G>A (p.Glu75Lys)
c.106G>A (p.Glu36Lys)
c.235G>A (p.Glu79Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1858073G>CCA369954979ARHGEF10c.151G>C (p.Glu51Gln)
c.610G>C
c.*102G>C (n.*102G>C)
c.541G>C
c.223G>C (p.Glu75Gln)
c.106G>C (p.Glu36Gln)
c.235G>C (p.Glu79Gln)
8g.1858073G=CA1757725899ARHGEF10c.151G= (p.Glu51=)
c.610G=
c.*102G= (n.*102G=)
c.541G=
c.223G= (p.Glu75=)
c.106G= (p.Glu36=)
c.235G= (p.Glu79=)
8g.1858073G>TCA369954978ARHGEF10c.151G>T (p.Glu51Ter)
c.610G>T
c.*102G>T (n.*102G>T)
c.541G>T
c.223G>T (p.Glu75Ter)
c.106G>T (p.Glu36Ter)
c.235G>T (p.Glu79Ter)
 gnomAD v4
8g.1858074A>CCA369954980ARHGEF10c.152A>C (p.Glu51Ala)
c.611A>C
c.*103A>C (n.*103A>C)
c.542A>C
c.224A>C (p.Glu75Ala)
c.107A>C (p.Glu36Ala)
c.236A>C (p.Glu79Ala)
 gnomAD v4
8g.1858074A>GCA369954981ARHGEF10c.152A>G (p.Glu51Gly)
c.611A>G
c.*103A>G (n.*103A>G)
c.542A>G
c.224A>G (p.Glu75Gly)
c.107A>G (p.Glu36Gly)
c.236A>G (p.Glu79Gly)
 gnomAD v4
8g.1858074A>TCA369954982ARHGEF10c.152A>T (p.Glu51Val)
c.611A>T
c.*103A>T (n.*103A>T)
c.542A>T
c.224A>T (p.Glu75Val)
c.107A>T (p.Glu36Val)
c.236A>T (p.Glu79Val)
8g.1858075G>ACA459054522ARHGEF10c.153G>A (p.Glu51=)
c.612G>A
c.*104G>A (n.*104G>A)
c.543G>A
c.225G>A (p.Glu75=)
c.108G>A (p.Glu36=)
c.237G>A (p.Glu79=)
 gnomAD v4
8g.1858075G>CCA369954983ARHGEF10c.153G>C (p.Glu51Asp)
c.612G>C
c.*104G>C (n.*104G>C)
c.543G>C
c.225G>C (p.Glu75Asp)
c.108G>C (p.Glu36Asp)
c.237G>C (p.Glu79Asp)
8g.1858075G>TCA369954984ARHGEF10c.153G>T (p.Glu51Asp)
c.612G>T
c.*104G>T (n.*104G>T)
c.543G>T
c.225G>T (p.Glu75Asp)
c.108G>T (p.Glu36Asp)
c.237G>T (p.Glu79Asp)
8g.1858076A=CA1757725903ARHGEF10c.154A= (p.Thr52=)
c.613A=
c.*105A= (n.*105A=)
c.544A=
c.226A= (p.Thr76=)
c.109A= (p.Thr37=)
c.238A= (p.Thr80=)
8g.1858076A>CCA369954985ARHGEF10c.154A>C (p.Thr52Pro)
c.613A>C
c.*105A>C (n.*105A>C)
c.544A>C
c.226A>C (p.Thr76Pro)
c.109A>C (p.Thr37Pro)
c.238A>C (p.Thr80Pro)
8g.1858076A>GCA369954986ARHGEF10c.154A>G (p.Thr52Ala)
c.613A>G
c.*105A>G (n.*105A>G)
c.544A>G
c.226A>G (p.Thr76Ala)
c.109A>G (p.Thr37Ala)
c.238A>G (p.Thr80Ala)
8g.1858076A>TCA369954987ARHGEF10c.154A>T (p.Thr52Ser)
c.613A>T
c.*105A>T (n.*105A>T)
c.544A>T
c.226A>T (p.Thr76Ser)
c.109A>T (p.Thr37Ser)
c.238A>T (p.Thr80Ser)
 dbSNP
8g.1858077C>ACA369954988ARHGEF10c.155C>A (p.Thr52Lys)
c.614C>A
c.*106C>A (n.*106C>A)
c.545C>A
c.227C>A (p.Thr76Lys)
c.110C>A (p.Thr37Lys)
c.239C>A (p.Thr80Lys)
8g.1858077C=CA1757725906ARHGEF10c.155C= (p.Thr52=)
c.614C=
c.*106C= (n.*106C=)
c.545C=
c.227C= (p.Thr76=)
c.110C= (p.Thr37=)
c.239C= (p.Thr80=)
8g.1858077C>GCA369954989ARHGEF10c.155C>G (p.Thr52Arg)
c.614C>G
c.*106C>G (n.*106C>G)
c.545C>G
c.227C>G (p.Thr76Arg)
c.110C>G (p.Thr37Arg)
c.239C>G (p.Thr80Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1858077C>TCA369954990ARHGEF10c.155C>T (p.Thr52Ile)
c.614C>T
c.*106C>T (n.*106C>T)
c.545C>T
c.227C>T (p.Thr76Ile)
c.110C>T (p.Thr37Ile)
c.239C>T (p.Thr80Ile)
 gnomAD v4
8g.1858078A>CCA459054530ARHGEF10c.156A>C (p.Thr52=)
c.615A>C
c.*107A>C (n.*107A>C)
c.546A>C
c.228A>C (p.Thr76=)
c.111A>C (p.Thr37=)
c.240A>C (p.Thr80=)
8g.1858078A>GCA459054532ARHGEF10c.156A>G (p.Thr52=)
c.615A>G
c.*107A>G (n.*107A>G)
c.546A>G
c.228A>G (p.Thr76=)
c.111A>G (p.Thr37=)
c.240A>G (p.Thr80=)
8g.1858078A>TCA459054534ARHGEF10c.156A>T (p.Thr52=)
c.615A>T
c.*107A>T (n.*107A>T)
c.546A>T
c.228A>T (p.Thr76=)
c.111A>T (p.Thr37=)
c.240A>T (p.Thr80=)
8g.1858081_1858083delCA2579082313ARHGEF10c.159_161del (p.Gly54del)
c.618_620del
c.*110_*112del (n.*110_*112del)
c.549_551del
c.231_233del (p.Gly78del)
c.114_116del (p.Gly39del)
c.243_245del (p.Gly82del)
8g.1858079G>ACA369954993ARHGEF10c.157G>A (p.Gly53Arg)
c.616G>A
c.*108G>A (n.*108G>A)
c.547G>A
c.229G>A (p.Gly77Arg)
c.112G>A (p.Gly38Arg)
c.241G>A (p.Gly81Arg)
8g.1858079G>CCA369954992ARHGEF10c.157G>C (p.Gly53Arg)
c.616G>C
c.*108G>C (n.*108G>C)
c.547G>C
c.229G>C (p.Gly77Arg)
c.112G>C (p.Gly38Arg)
c.241G>C (p.Gly81Arg)
8g.1858079G>TCA369954991ARHGEF10c.157G>T (p.Gly53Ter)
c.616G>T
c.*108G>T (n.*108G>T)
c.547G>T
c.229G>T (p.Gly77Ter)
c.112G>T (p.Gly38Ter)
c.241G>T (p.Gly81Ter)
8g.1858080G>ACA369954996ARHGEF10c.158G>A (p.Gly53Glu)
c.617G>A
c.*109G>A (n.*109G>A)
c.548G>A
c.230G>A (p.Gly77Glu)
c.113G>A (p.Gly38Glu)
c.242G>A (p.Gly81Glu)
 gnomAD v4
8g.1858080G>CCA369954994ARHGEF10c.158G>C (p.Gly53Ala)
c.617G>C
c.*109G>C (n.*109G>C)
c.548G>C
c.230G>C (p.Gly77Ala)
c.113G>C (p.Gly38Ala)
c.242G>C (p.Gly81Ala)
8g.1858080G>TCA369954995ARHGEF10c.158G>T (p.Gly53Val)
c.617G>T
c.*109G>T (n.*109G>T)
c.548G>T
c.230G>T (p.Gly77Val)
c.113G>T (p.Gly38Val)
c.242G>T (p.Gly81Val)
8g.1858081A>CCA459054543ARHGEF10c.159A>C (p.Gly53=)
c.618A>C
c.*110A>C (n.*110A>C)
c.549A>C
c.231A>C (p.Gly77=)
c.114A>C (p.Gly38=)
c.243A>C (p.Gly81=)
 gnomAD v4
8g.1858081A>GCA459054542ARHGEF10c.159A>G (p.Gly53=)
c.618A>G
c.*110A>G (n.*110A>G)
c.549A>G
c.231A>G (p.Gly77=)
c.114A>G (p.Gly38=)
c.243A>G (p.Gly81=)
8g.1858081A>TCA459054540ARHGEF10c.159A>T (p.Gly53=)
c.618A>T
c.*110A>T (n.*110A>T)
c.549A>T
c.231A>T (p.Gly77=)
c.114A>T (p.Gly38=)
c.243A>T (p.Gly81=)
 gnomAD v4
8g.1858082G>ACA4599610ARHGEF10c.160G>A (p.Gly54Ser)
c.619G>A
c.*111G>A (n.*111G>A)
c.550G>A
c.232G>A (p.Gly78Ser)
c.115G>A (p.Gly39Ser)
c.244G>A (p.Gly82Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858082G>CCA369954997ARHGEF10c.160G>C (p.Gly54Arg)
c.619G>C
c.*111G>C (n.*111G>C)
c.550G>C
c.232G>C (p.Gly78Arg)
c.115G>C (p.Gly39Arg)
c.244G>C (p.Gly82Arg)
 gnomAD v4
8g.1858082G=CA1757725912ARHGEF10c.160G= (p.Gly54=)
c.619G=
c.*111G= (n.*111G=)
c.550G=
c.232G= (p.Gly78=)
c.115G= (p.Gly39=)
c.244G= (p.Gly82=)
8g.1858082G>TCA369954998ARHGEF10c.160G>T (p.Gly54Cys)
c.619G>T
c.*111G>T (n.*111G>T)
c.550G>T
c.232G>T (p.Gly78Cys)
c.115G>T (p.Gly39Cys)
c.244G>T (p.Gly82Cys)
8g.1858083G>ACA369954999ARHGEF10c.161G>A (p.Gly54Asp)
c.620G>A
c.*112G>A (n.*112G>A)
c.551G>A
c.233G>A (p.Gly78Asp)
c.116G>A (p.Gly39Asp)
c.245G>A (p.Gly82Asp)
 gnomAD v4
8g.1858083G>CCA369955000ARHGEF10c.161G>C (p.Gly54Ala)
c.620G>C
c.*112G>C (n.*112G>C)
c.551G>C
c.233G>C (p.Gly78Ala)
c.116G>C (p.Gly39Ala)
c.245G>C (p.Gly82Ala)
8g.1858083G>TCA369955001ARHGEF10c.161G>T (p.Gly54Val)
c.620G>T
c.*112G>T (n.*112G>T)
c.551G>T
c.233G>T (p.Gly78Val)
c.116G>T (p.Gly39Val)
c.245G>T (p.Gly82Val)
8g.1858084T>ACA459054553ARHGEF10c.162T>A (p.Gly54=)
c.621T>A
c.*113T>A (n.*113T>A)
c.552T>A
c.234T>A (p.Gly78=)
c.117T>A (p.Gly39=)
c.246T>A (p.Gly82=)
8g.1858084T>CCA459054555ARHGEF10c.162T>C (p.Gly54=)
c.621T>C
c.*113T>C (n.*113T>C)
c.552T>C
c.234T>C (p.Gly78=)
c.117T>C (p.Gly39=)
c.246T>C (p.Gly82=)
8g.1858084T>GCA4599611ARHGEF10c.162T>G (p.Gly54=)
c.621T>G
c.*113T>G (n.*113T>G)
c.552T>G
c.234T>G (p.Gly78=)
c.117T>G (p.Gly39=)
c.246T>G (p.Gly82=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858084T=CA1757725915ARHGEF10c.162T= (p.Gly54=)
c.621T=
c.*113T= (n.*113T=)
c.552T=
c.234T= (p.Gly78=)
c.117T= (p.Gly39=)
c.246T= (p.Gly82=)
8g.1858085G>ACA4599612ARHGEF10c.163G>A (p.Ala55Thr)
c.622G>A
c.*114G>A (n.*114G>A)
c.553G>A
c.235G>A (p.Ala79Thr)
c.118G>A (p.Ala40Thr)
c.247G>A (p.Ala83Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858085G>CCA369955002ARHGEF10c.163G>C (p.Ala55Pro)
c.622G>C
c.*114G>C (n.*114G>C)
c.553G>C
c.235G>C (p.Ala79Pro)
c.118G>C (p.Ala40Pro)
c.247G>C (p.Ala83Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.1858085G=CA1757725918ARHGEF10c.163G= (p.Ala55=)
c.622G=
c.*114G= (n.*114G=)
c.553G=
c.235G= (p.Ala79=)
c.118G= (p.Ala40=)
c.247G= (p.Ala83=)
8g.1858085G>TCA4599613ARHGEF10c.163G>T (p.Ala55Ser)
c.622G>T
c.*114G>T (n.*114G>T)
c.553G>T
c.235G>T (p.Ala79Ser)
c.118G>T (p.Ala40Ser)
c.247G>T (p.Ala83Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1858086C>ACA369955003ARHGEF10c.164C>A (p.Ala55Asp)
c.623C>A
c.*115C>A (n.*115C>A)
c.554C>A
c.236C>A (p.Ala79Asp)
c.119C>A (p.Ala40Asp)
c.248C>A (p.Ala83Asp)
8g.1858086C>GCA369955004ARHGEF10c.164C>G (p.Ala55Gly)
c.623C>G
c.*115C>G (n.*115C>G)
c.554C>G
c.236C>G (p.Ala79Gly)
c.119C>G (p.Ala40Gly)
c.248C>G (p.Ala83Gly)
 gnomAD v4
8g.1858086C>TCA369955005ARHGEF10c.164C>T (p.Ala55Val)
c.623C>T
c.*115C>T (n.*115C>T)
c.554C>T
c.236C>T (p.Ala79Val)
c.119C>T (p.Ala40Val)
c.248C>T (p.Ala83Val)
 gnomAD v4
8g.1858087T>ACA459054564ARHGEF10c.165T>A (p.Ala55=)
c.624T>A
c.*116T>A (n.*116T>A)
c.555T>A
c.237T>A (p.Ala79=)
c.120T>A (p.Ala40=)
c.249T>A (p.Ala83=)
8g.1858087T>CCA459054566ARHGEF10c.165T>C (p.Ala55=)
c.624T>C
c.*116T>C (n.*116T>C)
c.555T>C
c.237T>C (p.Ala79=)
c.120T>C (p.Ala40=)
c.249T>C (p.Ala83=)
8g.1858087T>GCA459054568ARHGEF10c.165T>G (p.Ala55=)
c.624T>G
c.*116T>G (n.*116T>G)
c.555T>G
c.237T>G (p.Ala79=)
c.120T>G (p.Ala40=)
c.249T>G (p.Ala83=)
 dbSNP gnomAD v2 gnomAD v4
8g.1858087T=CA1757725924ARHGEF10c.165T= (p.Ala55=)
c.624T=
c.*116T= (n.*116T=)
c.555T=
c.237T= (p.Ala79=)
c.120T= (p.Ala40=)
c.249T= (p.Ala83=)

Number of alleles fetched