Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.174824466delCA2662024297CHN1c.308del (p.Gly103ValfsTer7)
c.8del (p.Gly3ValfsTer7)
c.683del (p.Gly228ValfsTer7)
c.137del (p.Gly46ValfsTer7)
c.*130del (n.*130del)
c.161del (p.Gly54ValfsTer7)
c.527del (p.Gly176ValfsTer7)
n.326del
c.207del
c.275del (p.Gly92ValfsTer7)
c.197del (p.Gly66ValfsTer7)
c.253-11981del (n.253-11981del)
n.581del
c.605del (p.Gly202ValfsTer7)
c.131del (p.Gly44ValfsTer7)
c.*234del (n.*234del)
n.142del
n.534del
n.549del
c.734del (p.Gly245ValfsTer7)
n.551del
 gnomAD v4
2g.174824464C>ACA349347746CHN1c.307G>T (p.Gly103Cys)
c.7G>T (p.Gly3Cys)
c.682G>T (p.Gly228Cys)
c.136G>T (p.Gly46Cys)
c.*129G>T (n.*129G>T)
c.160G>T (p.Gly54Cys)
c.526G>T (p.Gly176Cys)
n.325G>T
c.206G>T
c.274G>T (p.Gly92Cys)
c.196G>T (p.Gly66Cys)
c.253-11982G>T (n.253-11982G>T)
n.580G>T
c.604G>T (p.Gly202Cys)
c.130G>T (p.Gly44Cys)
c.*233G>T (n.*233G>T)
n.141G>T
n.533G>T
n.548G>T
c.733G>T (p.Gly245Cys)
n.550G>T
 gnomAD v4
2g.174824464C=CA1308865697CHN1c.307G= (p.Gly103=)
c.7G= (p.Gly3=)
c.682G= (p.Gly228=)
c.136G= (p.Gly46=)
c.*129G= (n.*129G=)
c.160G= (p.Gly54=)
c.526G= (p.Gly176=)
n.325G=
c.206G=
c.274G= (p.Gly92=)
c.196G= (p.Gly66=)
c.253-11982G= (n.253-11982G=)
n.580G=
c.604G= (p.Gly202=)
c.130G= (p.Gly44=)
c.*233G= (n.*233G=)
n.141G=
n.533G=
n.548G=
c.733G= (p.Gly245=)
n.550G=
2g.174824464C>GCA349347745CHN1c.307G>C (p.Gly103Arg)
c.7G>C (p.Gly3Arg)
c.682G>C (p.Gly228Arg)
c.136G>C (p.Gly46Arg)
c.*129G>C (n.*129G>C)
c.160G>C (p.Gly54Arg)
c.526G>C (p.Gly176Arg)
n.325G>C
c.206G>C
c.274G>C (p.Gly92Arg)
c.196G>C (p.Gly66Arg)
c.253-11982G>C (n.253-11982G>C)
n.580G>C
c.604G>C (p.Gly202Arg)
c.130G>C (p.Gly44Arg)
c.*233G>C (n.*233G>C)
n.141G>C
n.533G>C
n.548G>C
c.733G>C (p.Gly245Arg)
n.550G>C
2g.174824464C>TCA258038CHN1c.307G>A (p.Gly103Ser)
c.7G>A (p.Gly3Ser)
c.682G>A (p.Gly228Ser)
c.136G>A (p.Gly46Ser)
c.*129G>A (n.*129G>A)
c.160G>A (p.Gly54Ser)
c.526G>A (p.Gly176Ser)
n.325G>A
c.206G>A
c.274G>A (p.Gly92Ser)
c.196G>A (p.Gly66Ser)
c.253-11982G>A (n.253-11982G>A)
n.580G>A
c.604G>A (p.Gly202Ser)
c.130G>A (p.Gly44Ser)
c.*233G>A (n.*233G>A)
n.141G>A
n.533G>A
n.548G>A
c.733G>A (p.Gly245Ser)
n.550G>A
 ClinVar dbSNP
2g.174824465C>ACA349347750CHN1c.306G>T (p.Trp102Cys)
c.6G>T (p.Trp2Cys)
c.681G>T (p.Trp227Cys)
c.135G>T (p.Trp45Cys)
c.*128G>T (n.*128G>T)
c.159G>T (p.Trp53Cys)
c.525G>T (p.Trp175Cys)
n.324G>T
c.205G>T
c.273G>T (p.Trp91Cys)
c.195G>T (p.Trp65Cys)
c.253-11983G>T (n.253-11983G>T)
n.579G>T
c.603G>T (p.Trp201Cys)
c.129G>T (p.Trp43Cys)
c.*232G>T (n.*232G>T)
n.140G>T
n.532G>T
n.547G>T
c.732G>T (p.Trp244Cys)
n.549G>T
2g.174824465C>GCA349347754CHN1c.306G>C (p.Trp102Cys)
c.6G>C (p.Trp2Cys)
c.681G>C (p.Trp227Cys)
c.135G>C (p.Trp45Cys)
c.*128G>C (n.*128G>C)
c.159G>C (p.Trp53Cys)
c.525G>C (p.Trp175Cys)
n.324G>C
c.205G>C
c.273G>C (p.Trp91Cys)
c.195G>C (p.Trp65Cys)
c.253-11983G>C (n.253-11983G>C)
n.579G>C
c.603G>C (p.Trp201Cys)
c.129G>C (p.Trp43Cys)
c.*232G>C (n.*232G>C)
n.140G>C
n.532G>C
n.547G>C
c.732G>C (p.Trp244Cys)
n.549G>C
2g.174824465C>TCA349347752CHN1c.306G>A (p.Trp102Ter)
c.6G>A (p.Trp2Ter)
c.681G>A (p.Trp227Ter)
c.135G>A (p.Trp45Ter)
c.*128G>A (n.*128G>A)
c.159G>A (p.Trp53Ter)
c.525G>A (p.Trp175Ter)
n.324G>A
c.205G>A
c.273G>A (p.Trp91Ter)
c.195G>A (p.Trp65Ter)
c.253-11983G>A (n.253-11983G>A)
n.579G>A
c.603G>A (p.Trp201Ter)
c.129G>A (p.Trp43Ter)
c.*232G>A (n.*232G>A)
n.140G>A
n.532G>A
n.547G>A
c.732G>A (p.Trp244Ter)
n.549G>A
2g.174824466C>ACA349347757CHN1c.305G>T (p.Trp102Leu)
c.5G>T (p.Trp2Leu)
c.680G>T (p.Trp227Leu)
c.134G>T (p.Trp45Leu)
c.*127G>T (n.*127G>T)
c.158G>T (p.Trp53Leu)
c.524G>T (p.Trp175Leu)
n.323G>T
c.204G>T
c.272G>T (p.Trp91Leu)
c.194G>T (p.Trp65Leu)
c.253-11984G>T (n.253-11984G>T)
n.578G>T
c.602G>T (p.Trp201Leu)
c.128G>T (p.Trp43Leu)
c.*231G>T (n.*231G>T)
n.139G>T
n.531G>T
n.546G>T
c.731G>T (p.Trp244Leu)
n.548G>T
2g.174824466C>GCA349347759CHN1c.305G>C (p.Trp102Ser)
c.5G>C (p.Trp2Ser)
c.680G>C (p.Trp227Ser)
c.134G>C (p.Trp45Ser)
c.*127G>C (n.*127G>C)
c.158G>C (p.Trp53Ser)
c.524G>C (p.Trp175Ser)
n.323G>C
c.204G>C
c.272G>C (p.Trp91Ser)
c.194G>C (p.Trp65Ser)
c.253-11984G>C (n.253-11984G>C)
n.578G>C
c.602G>C (p.Trp201Ser)
c.128G>C (p.Trp43Ser)
c.*231G>C (n.*231G>C)
n.139G>C
n.531G>C
n.546G>C
c.731G>C (p.Trp244Ser)
n.548G>C
2g.174824466C>TCA349347761CHN1c.305G>A (p.Trp102Ter)
c.5G>A (p.Trp2Ter)
c.680G>A (p.Trp227Ter)
c.134G>A (p.Trp45Ter)
c.*127G>A (n.*127G>A)
c.158G>A (p.Trp53Ter)
c.524G>A (p.Trp175Ter)
n.323G>A
c.204G>A
c.272G>A (p.Trp91Ter)
c.194G>A (p.Trp65Ter)
c.253-11984G>A (n.253-11984G>A)
n.578G>A
c.602G>A (p.Trp201Ter)
c.128G>A (p.Trp43Ter)
c.*231G>A (n.*231G>A)
n.139G>A
n.531G>A
n.546G>A
c.731G>A (p.Trp244Ter)
n.548G>A
2g.174824467A>CCA349347763CHN1c.304T>G (p.Trp102Gly)
c.4T>G (p.Trp2Gly)
c.679T>G (p.Trp227Gly)
c.133T>G (p.Trp45Gly)
c.*126T>G (n.*126T>G)
c.157T>G (p.Trp53Gly)
c.523T>G (p.Trp175Gly)
n.322T>G
c.203T>G
c.271T>G (p.Trp91Gly)
c.193T>G (p.Trp65Gly)
c.253-11985T>G (n.253-11985T>G)
n.577T>G
c.601T>G (p.Trp201Gly)
c.127T>G (p.Trp43Gly)
c.*230T>G (n.*230T>G)
n.138T>G
n.530T>G
n.545T>G
c.730T>G (p.Trp244Gly)
n.547T>G
2g.174824467A>GCA349347765CHN1c.304T>C (p.Trp102Arg)
c.4T>C (p.Trp2Arg)
c.679T>C (p.Trp227Arg)
c.133T>C (p.Trp45Arg)
c.*126T>C (n.*126T>C)
c.157T>C (p.Trp53Arg)
c.523T>C (p.Trp175Arg)
n.322T>C
c.203T>C
c.271T>C (p.Trp91Arg)
c.193T>C (p.Trp65Arg)
c.253-11985T>C (n.253-11985T>C)
n.577T>C
c.601T>C (p.Trp201Arg)
c.127T>C (p.Trp43Arg)
c.*230T>C (n.*230T>C)
n.138T>C
n.530T>C
n.545T>C
c.730T>C (p.Trp244Arg)
n.547T>C
 ClinVar
2g.174824467A>TCA349347766CHN1c.304T>A (p.Trp102Arg)
c.4T>A (p.Trp2Arg)
c.679T>A (p.Trp227Arg)
c.133T>A (p.Trp45Arg)
c.*126T>A (n.*126T>A)
c.157T>A (p.Trp53Arg)
c.523T>A (p.Trp175Arg)
n.322T>A
c.203T>A
c.271T>A (p.Trp91Arg)
c.193T>A (p.Trp65Arg)
c.253-11985T>A (n.253-11985T>A)
n.577T>A
c.601T>A (p.Trp201Arg)
c.127T>A (p.Trp43Arg)
c.*230T>A (n.*230T>A)
n.138T>A
n.530T>A
n.545T>A
c.730T>A (p.Trp244Arg)
n.547T>A
2g.174824468C>ACA349347769CHN1c.303G>T (p.Met101Ile)
c.3G>T (p.Met1Ile)
c.678G>T (p.Met226Ile)
c.132G>T (p.Met44Ile)
c.*125G>T (n.*125G>T)
c.156G>T (p.Met52Ile)
c.522G>T (p.Met174Ile)
n.321G>T
c.202G>T
c.270G>T (p.Met90Ile)
c.192G>T (p.Met64Ile)
c.253-11986G>T (n.253-11986G>T)
n.576G>T
c.600G>T (p.Met200Ile)
c.126G>T (p.Met42Ile)
c.*229G>T (n.*229G>T)
n.137G>T
n.529G>T
n.544G>T
c.729G>T (p.Met243Ile)
n.546G>T
2g.174824468C>GCA349347770CHN1c.303G>C (p.Met101Ile)
c.3G>C (p.Met1Ile)
c.678G>C (p.Met226Ile)
c.132G>C (p.Met44Ile)
c.*125G>C (n.*125G>C)
c.156G>C (p.Met52Ile)
c.522G>C (p.Met174Ile)
n.321G>C
c.202G>C
c.270G>C (p.Met90Ile)
c.192G>C (p.Met64Ile)
c.253-11986G>C (n.253-11986G>C)
n.576G>C
c.600G>C (p.Met200Ile)
c.126G>C (p.Met42Ile)
c.*229G>C (n.*229G>C)
n.137G>C
n.529G>C
n.544G>C
c.729G>C (p.Met243Ile)
n.546G>C
2g.174824468C>TCA349347771CHN1c.303G>A (p.Met101Ile)
c.3G>A (p.Met1Ile)
c.678G>A (p.Met226Ile)
c.132G>A (p.Met44Ile)
c.*125G>A (n.*125G>A)
c.156G>A (p.Met52Ile)
c.522G>A (p.Met174Ile)
n.321G>A
c.202G>A
c.270G>A (p.Met90Ile)
c.192G>A (p.Met64Ile)
c.253-11986G>A (n.253-11986G>A)
n.576G>A
c.600G>A (p.Met200Ile)
c.126G>A (p.Met42Ile)
c.*229G>A (n.*229G>A)
n.137G>A
n.529G>A
n.544G>A
c.729G>A (p.Met243Ile)
n.546G>A
2g.174824469A>CCA349347773CHN1c.302T>G (p.Met101Arg)
c.2T>G (p.Met1Arg)
c.677T>G (p.Met226Arg)
c.131T>G (p.Met44Arg)
c.*124T>G (n.*124T>G)
c.155T>G (p.Met52Arg)
c.521T>G (p.Met174Arg)
n.320T>G
c.201T>G
c.269T>G (p.Met90Arg)
c.191T>G (p.Met64Arg)
c.253-11987T>G (n.253-11987T>G)
n.575T>G
c.599T>G (p.Met200Arg)
c.125T>G (p.Met42Arg)
c.*228T>G (n.*228T>G)
n.136T>G
n.528T>G
n.543T>G
c.728T>G (p.Met243Arg)
n.545T>G
2g.174824469A>GCA349347774CHN1c.302T>C (p.Met101Thr)
c.2T>C (p.Met1Thr)
c.677T>C (p.Met226Thr)
c.131T>C (p.Met44Thr)
c.*124T>C (n.*124T>C)
c.155T>C (p.Met52Thr)
c.521T>C (p.Met174Thr)
n.320T>C
c.201T>C
c.269T>C (p.Met90Thr)
c.191T>C (p.Met64Thr)
c.253-11987T>C (n.253-11987T>C)
n.575T>C
c.599T>C (p.Met200Thr)
c.125T>C (p.Met42Thr)
c.*228T>C (n.*228T>C)
n.136T>C
n.528T>C
n.543T>C
c.728T>C (p.Met243Thr)
n.545T>C
2g.174824469A>TCA349347775CHN1c.302T>A (p.Met101Lys)
c.2T>A (p.Met1Lys)
c.677T>A (p.Met226Lys)
c.131T>A (p.Met44Lys)
c.*124T>A (n.*124T>A)
c.155T>A (p.Met52Lys)
c.521T>A (p.Met174Lys)
n.320T>A
c.201T>A
c.269T>A (p.Met90Lys)
c.191T>A (p.Met64Lys)
c.253-11987T>A (n.253-11987T>A)
n.575T>A
c.599T>A (p.Met200Lys)
c.125T>A (p.Met42Lys)
c.*228T>A (n.*228T>A)
n.136T>A
n.528T>A
n.543T>A
c.728T>A (p.Met243Lys)
n.545T>A
2g.174824470T>ACA349347778CHN1c.301A>T (p.Met101Leu)
c.1A>T (p.Met1Leu)
c.676A>T (p.Met226Leu)
c.130A>T (p.Met44Leu)
c.*123A>T (n.*123A>T)
c.154A>T (p.Met52Leu)
c.520A>T (p.Met174Leu)
n.319A>T
c.200A>T
c.268A>T (p.Met90Leu)
c.190A>T (p.Met64Leu)
c.253-11988A>T (n.253-11988A>T)
n.574A>T
c.598A>T (p.Met200Leu)
c.124A>T (p.Met42Leu)
c.*227A>T (n.*227A>T)
n.135A>T
n.527A>T
n.542A>T
c.727A>T (p.Met243Leu)
n.544A>T
 gnomAD v4
2g.174824470T>CCA349347781CHN1c.301A>G (p.Met101Val)
c.1A>G (p.Met1Val)
c.676A>G (p.Met226Val)
c.130A>G (p.Met44Val)
c.*123A>G (n.*123A>G)
c.154A>G (p.Met52Val)
c.520A>G (p.Met174Val)
n.319A>G
c.200A>G
c.268A>G (p.Met90Val)
c.190A>G (p.Met64Val)
c.253-11988A>G (n.253-11988A>G)
n.574A>G
c.598A>G (p.Met200Val)
c.124A>G (p.Met42Val)
c.*227A>G (n.*227A>G)
n.135A>G
n.527A>G
n.542A>G
c.727A>G (p.Met243Val)
n.544A>G
2g.174824470T>GCA349347780CHN1c.301A>C (p.Met101Leu)
c.1A>C (p.Met1Leu)
c.676A>C (p.Met226Leu)
c.130A>C (p.Met44Leu)
c.*123A>C (n.*123A>C)
c.154A>C (p.Met52Leu)
c.520A>C (p.Met174Leu)
n.319A>C
c.200A>C
c.268A>C (p.Met90Leu)
c.190A>C (p.Met64Leu)
c.253-11988A>C (n.253-11988A>C)
n.574A>C
c.598A>C (p.Met200Leu)
c.124A>C (p.Met42Leu)
c.*227A>C (n.*227A>C)
n.135A>C
n.527A>C
n.542A>C
c.727A>C (p.Met243Leu)
n.544A>C
 dbSNP gnomAD v2 gnomAD v4
2g.174824470T=CA1308865698CHN1c.301A= (p.Met101=)
c.1A= (p.Met1=)
c.676A= (p.Met226=)
c.130A= (p.Met44=)
c.*123A= (n.*123A=)
c.154A= (p.Met52=)
c.520A= (p.Met174=)
n.319A=
c.200A=
c.268A= (p.Met90=)
c.190A= (p.Met64=)
c.253-11988A= (n.253-11988A=)
n.574A=
c.598A= (p.Met200=)
c.124A= (p.Met42=)
c.*227A= (n.*227A=)
n.135A=
n.527A=
n.542A=
c.727A= (p.Met243=)
n.544A=
2g.174824471A>CCA349347782CHN1c.300T>G (p.Phe100Leu)
c.-1T>G (n.-1T>G)
c.675T>G (p.Phe225Leu)
c.129T>G (p.Phe43Leu)
c.*122T>G (n.*122T>G)
c.153T>G (p.Phe51Leu)
c.519T>G (p.Phe173Leu)
n.318T>G
c.199T>G
c.267T>G (p.Phe89Leu)
c.189T>G (p.Phe63Leu)
c.253-11989T>G (n.253-11989T>G)
n.573T>G
c.597T>G (p.Phe199Leu)
c.123T>G (p.Phe41Leu)
c.*226T>G (n.*226T>G)
n.134T>G
n.526T>G
n.541T>G
c.726T>G (p.Phe242Leu)
n.543T>G
2g.174824471A>GCA430022750CHN1c.300T>C (p.Phe100=)
c.-1T>C (n.-1T>C)
c.675T>C (p.Phe225=)
c.129T>C (p.Phe43=)
c.*122T>C (n.*122T>C)
c.153T>C (p.Phe51=)
c.519T>C (p.Phe173=)
n.318T>C
c.199T>C
c.267T>C (p.Phe89=)
c.189T>C (p.Phe63=)
c.253-11989T>C (n.253-11989T>C)
n.573T>C
c.597T>C (p.Phe199=)
c.123T>C (p.Phe41=)
c.*226T>C (n.*226T>C)
n.134T>C
n.526T>C
n.541T>C
c.726T>C (p.Phe242=)
n.543T>C
2g.174824471A>TCA349347784CHN1c.300T>A (p.Phe100Leu)
c.-1T>A (n.-1T>A)
c.675T>A (p.Phe225Leu)
c.129T>A (p.Phe43Leu)
c.*122T>A (n.*122T>A)
c.153T>A (p.Phe51Leu)
c.519T>A (p.Phe173Leu)
n.318T>A
c.199T>A
c.267T>A (p.Phe89Leu)
c.189T>A (p.Phe63Leu)
c.253-11989T>A (n.253-11989T>A)
n.573T>A
c.597T>A (p.Phe199Leu)
c.123T>A (p.Phe41Leu)
c.*226T>A (n.*226T>A)
n.134T>A
n.526T>A
n.541T>A
c.726T>A (p.Phe242Leu)
n.543T>A
2g.174824472A>CCA349347786CHN1c.299T>G (p.Phe100Cys)
c.-2T>G (n.-2T>G)
c.674T>G (p.Phe225Cys)
c.128T>G (p.Phe43Cys)
c.*121T>G (n.*121T>G)
c.152T>G (p.Phe51Cys)
c.518T>G (p.Phe173Cys)
n.317T>G
c.198T>G
c.266T>G (p.Phe89Cys)
c.188T>G (p.Phe63Cys)
c.253-11990T>G (n.253-11990T>G)
n.572T>G
c.596T>G (p.Phe199Cys)
c.122T>G (p.Phe41Cys)
c.*225T>G (n.*225T>G)
n.133T>G
n.525T>G
n.540T>G
c.725T>G (p.Phe242Cys)
n.542T>G
2g.174824472A>GCA349347788CHN1c.299T>C (p.Phe100Ser)
c.-2T>C (n.-2T>C)
c.674T>C (p.Phe225Ser)
c.128T>C (p.Phe43Ser)
c.*121T>C (n.*121T>C)
c.152T>C (p.Phe51Ser)
c.518T>C (p.Phe173Ser)
n.317T>C
c.198T>C
c.266T>C (p.Phe89Ser)
c.188T>C (p.Phe63Ser)
c.253-11990T>C (n.253-11990T>C)
n.572T>C
c.596T>C (p.Phe199Ser)
c.122T>C (p.Phe41Ser)
c.*225T>C (n.*225T>C)
n.133T>C
n.525T>C
n.540T>C
c.725T>C (p.Phe242Ser)
n.542T>C
2g.174824472A>TCA349347790CHN1c.299T>A (p.Phe100Tyr)
c.-2T>A (n.-2T>A)
c.674T>A (p.Phe225Tyr)
c.128T>A (p.Phe43Tyr)
c.*121T>A (n.*121T>A)
c.152T>A (p.Phe51Tyr)
c.518T>A (p.Phe173Tyr)
n.317T>A
c.198T>A
c.266T>A (p.Phe89Tyr)
c.188T>A (p.Phe63Tyr)
c.253-11990T>A (n.253-11990T>A)
n.572T>A
c.596T>A (p.Phe199Tyr)
c.122T>A (p.Phe41Tyr)
c.*225T>A (n.*225T>A)
n.133T>A
n.525T>A
n.540T>A
c.725T>A (p.Phe242Tyr)
n.542T>A
2g.174824473A>CCA349347792CHN1c.298T>G (p.Phe100Val)
c.-3T>G (n.-3T>G)
c.673T>G (p.Phe225Val)
c.127T>G (p.Phe43Val)
c.*120T>G (n.*120T>G)
c.151T>G (p.Phe51Val)
c.517T>G (p.Phe173Val)
n.316T>G
c.197T>G
c.265T>G (p.Phe89Val)
c.187T>G (p.Phe63Val)
c.253-11991T>G (n.253-11991T>G)
n.571T>G
c.595T>G (p.Phe199Val)
c.121T>G (p.Phe41Val)
c.*224T>G (n.*224T>G)
n.132T>G
n.524T>G
n.539T>G
c.724T>G (p.Phe242Val)
n.541T>G
2g.174824473A>GCA349347793CHN1c.298T>C (p.Phe100Leu)
c.-3T>C (n.-3T>C)
c.673T>C (p.Phe225Leu)
c.127T>C (p.Phe43Leu)
c.*120T>C (n.*120T>C)
c.151T>C (p.Phe51Leu)
c.517T>C (p.Phe173Leu)
n.316T>C
c.197T>C
c.265T>C (p.Phe89Leu)
c.187T>C (p.Phe63Leu)
c.253-11991T>C (n.253-11991T>C)
n.571T>C
c.595T>C (p.Phe199Leu)
c.121T>C (p.Phe41Leu)
c.*224T>C (n.*224T>C)
n.132T>C
n.524T>C
n.539T>C
c.724T>C (p.Phe242Leu)
n.541T>C
2g.174824473A>TCA349347795CHN1c.298T>A (p.Phe100Ile)
c.-3T>A (n.-3T>A)
c.673T>A (p.Phe225Ile)
c.127T>A (p.Phe43Ile)
c.*120T>A (n.*120T>A)
c.151T>A (p.Phe51Ile)
c.517T>A (p.Phe173Ile)
n.316T>A
c.197T>A
c.265T>A (p.Phe89Ile)
c.187T>A (p.Phe63Ile)
c.253-11991T>A (n.253-11991T>A)
n.571T>A
c.595T>A (p.Phe199Ile)
c.121T>A (p.Phe41Ile)
c.*224T>A (n.*224T>A)
n.132T>A
n.524T>A
n.539T>A
c.724T>A (p.Phe242Ile)
n.541T>A
2g.174824474G>ACA430022753CHN1c.297C>T (p.Asn99=)
c.-4C>T (n.-4C>T)
c.672C>T (p.Asn224=)
c.126C>T (p.Asn42=)
c.*119C>T (n.*119C>T)
c.150C>T (p.Asn50=)
c.516C>T (p.Asn172=)
n.315C>T
c.196C>T
c.264C>T (p.Asn88=)
c.186C>T (p.Asn62=)
c.253-11992C>T (n.253-11992C>T)
n.570C>T
c.594C>T (p.Asn198=)
c.120C>T (p.Asn40=)
c.*223C>T (n.*223C>T)
n.131C>T
n.523C>T
n.538C>T
c.723C>T (p.Asn241=)
n.540C>T
 dbSNP
2g.174824474G>CCA60852483CHN1c.297C>G (p.Asn99Lys)
c.-4C>G (n.-4C>G)
c.672C>G (p.Asn224Lys)
c.126C>G (p.Asn42Lys)
c.*119C>G (n.*119C>G)
c.150C>G (p.Asn50Lys)
c.516C>G (p.Asn172Lys)
n.315C>G
c.196C>G
c.264C>G (p.Asn88Lys)
c.186C>G (p.Asn62Lys)
c.253-11992C>G (n.253-11992C>G)
n.570C>G
c.594C>G (p.Asn198Lys)
c.120C>G (p.Asn40Lys)
c.*223C>G (n.*223C>G)
n.131C>G
n.523C>G
n.538C>G
c.723C>G (p.Asn241Lys)
n.540C>G
 dbSNP
2g.174824474G=CA1308865699CHN1c.297C= (p.Asn99=)
c.-4C= (n.-4C=)
c.672C= (p.Asn224=)
c.126C= (p.Asn42=)
c.*119C= (n.*119C=)
c.150C= (p.Asn50=)
c.516C= (p.Asn172=)
n.315C=
c.196C=
c.264C= (p.Asn88=)
c.186C= (p.Asn62=)
c.253-11992C= (n.253-11992C=)
n.570C=
c.594C= (p.Asn198=)
c.120C= (p.Asn40=)
c.*223C= (n.*223C=)
n.131C=
n.523C=
n.538C=
c.723C= (p.Asn241=)
n.540C=
2g.174824474G>TCA349347798CHN1c.297C>A (p.Asn99Lys)
c.-4C>A (n.-4C>A)
c.672C>A (p.Asn224Lys)
c.126C>A (p.Asn42Lys)
c.*119C>A (n.*119C>A)
c.150C>A (p.Asn50Lys)
c.516C>A (p.Asn172Lys)
n.315C>A
c.196C>A
c.264C>A (p.Asn88Lys)
c.186C>A (p.Asn62Lys)
c.253-11992C>A (n.253-11992C>A)
n.570C>A
c.594C>A (p.Asn198Lys)
c.120C>A (p.Asn40Lys)
c.*223C>A (n.*223C>A)
n.131C>A
n.523C>A
n.538C>A
c.723C>A (p.Asn241Lys)
n.540C>A
2g.174824475T>ACA349347801CHN1c.296A>T (p.Asn99Ile)
c.-5A>T (n.-5A>T)
c.671A>T (p.Asn224Ile)
c.125A>T (p.Asn42Ile)
c.*118A>T (n.*118A>T)
c.149A>T (p.Asn50Ile)
c.515A>T (p.Asn172Ile)
n.314A>T
c.195A>T
c.263A>T (p.Asn88Ile)
c.185A>T (p.Asn62Ile)
c.253-11993A>T (n.253-11993A>T)
n.569A>T
c.593A>T (p.Asn198Ile)
c.119A>T (p.Asn40Ile)
c.*222A>T (n.*222A>T)
n.130A>T
n.522A>T
n.537A>T
c.722A>T (p.Asn241Ile)
n.539A>T
2g.174824475T>CCA349347803CHN1c.296A>G (p.Asn99Ser)
c.-5A>G (n.-5A>G)
c.671A>G (p.Asn224Ser)
c.125A>G (p.Asn42Ser)
c.*118A>G (n.*118A>G)
c.149A>G (p.Asn50Ser)
c.515A>G (p.Asn172Ser)
n.314A>G
c.195A>G
c.263A>G (p.Asn88Ser)
c.185A>G (p.Asn62Ser)
c.253-11993A>G (n.253-11993A>G)
n.569A>G
c.593A>G (p.Asn198Ser)
c.119A>G (p.Asn40Ser)
c.*222A>G (n.*222A>G)
n.130A>G
n.522A>G
n.537A>G
c.722A>G (p.Asn241Ser)
n.539A>G
2g.174824475T>GCA349347800CHN1c.296A>C (p.Asn99Thr)
c.-5A>C (n.-5A>C)
c.671A>C (p.Asn224Thr)
c.125A>C (p.Asn42Thr)
c.*118A>C (n.*118A>C)
c.149A>C (p.Asn50Thr)
c.515A>C (p.Asn172Thr)
n.314A>C
c.195A>C
c.263A>C (p.Asn88Thr)
c.185A>C (p.Asn62Thr)
c.253-11993A>C (n.253-11993A>C)
n.569A>C
c.593A>C (p.Asn198Thr)
c.119A>C (p.Asn40Thr)
c.*222A>C (n.*222A>C)
n.130A>C
n.522A>C
n.537A>C
c.722A>C (p.Asn241Thr)
n.539A>C
2g.174824476T>ACA349347805CHN1c.295A>T (p.Asn99Tyr)
c.-6A>T (n.-6A>T)
c.670A>T (p.Asn224Tyr)
c.124A>T (p.Asn42Tyr)
c.*117A>T (n.*117A>T)
c.148A>T (p.Asn50Tyr)
c.514A>T (p.Asn172Tyr)
n.313A>T
c.194A>T
c.262A>T (p.Asn88Tyr)
c.184A>T (p.Asn62Tyr)
c.253-11994A>T (n.253-11994A>T)
n.568A>T
c.592A>T (p.Asn198Tyr)
c.118A>T (p.Asn40Tyr)
c.*221A>T (n.*221A>T)
n.129A>T
n.521A>T
n.536A>T
c.721A>T (p.Asn241Tyr)
n.538A>T
2g.174824476T>CCA349347806CHN1c.295A>G (p.Asn99Asp)
c.-6A>G (n.-6A>G)
c.670A>G (p.Asn224Asp)
c.124A>G (p.Asn42Asp)
c.*117A>G (n.*117A>G)
c.148A>G (p.Asn50Asp)
c.514A>G (p.Asn172Asp)
n.313A>G
c.194A>G
c.262A>G (p.Asn88Asp)
c.184A>G (p.Asn62Asp)
c.253-11994A>G (n.253-11994A>G)
n.568A>G
c.592A>G (p.Asn198Asp)
c.118A>G (p.Asn40Asp)
c.*221A>G (n.*221A>G)
n.129A>G
n.521A>G
n.536A>G
c.721A>G (p.Asn241Asp)
n.538A>G
2g.174824476T>GCA349347808CHN1c.295A>C (p.Asn99His)
c.-6A>C (n.-6A>C)
c.670A>C (p.Asn224His)
c.124A>C (p.Asn42His)
c.*117A>C (n.*117A>C)
c.148A>C (p.Asn50His)
c.514A>C (p.Asn172His)
n.313A>C
c.194A>C
c.262A>C (p.Asn88His)
c.184A>C (p.Asn62His)
c.253-11994A>C (n.253-11994A>C)
n.568A>C
c.592A>C (p.Asn198His)
c.118A>C (p.Asn40His)
c.*221A>C (n.*221A>C)
n.129A>C
n.521A>C
n.536A>C
c.721A>C (p.Asn241His)
n.538A>C
2g.174824477G>ACA60852488CHN1c.294C>T (p.Ala98=)
c.-7C>T (n.-7C>T)
c.669C>T (p.Ala223=)
c.123C>T (p.Ala41=)
c.*116C>T (n.*116C>T)
c.147C>T (p.Ala49=)
c.513C>T (p.Ala171=)
n.312C>T
c.193C>T
c.261C>T (p.Ala87=)
c.183C>T (p.Ala61=)
c.253-11995C>T (n.253-11995C>T)
n.567C>T
c.591C>T (p.Ala197=)
c.117C>T (p.Ala39=)
c.*220C>T (n.*220C>T)
n.128C>T
n.520C>T
n.535C>T
c.720C>T (p.Ala240=)
n.537C>T
 dbSNP gnomAD v2 gnomAD v4
2g.174824477G>CCA430022756CHN1c.294C>G (p.Ala98=)
c.-7C>G (n.-7C>G)
c.669C>G (p.Ala223=)
c.123C>G (p.Ala41=)
c.*116C>G (n.*116C>G)
c.147C>G (p.Ala49=)
c.513C>G (p.Ala171=)
n.312C>G
c.193C>G
c.261C>G (p.Ala87=)
c.183C>G (p.Ala61=)
c.253-11995C>G (n.253-11995C>G)
n.567C>G
c.591C>G (p.Ala197=)
c.117C>G (p.Ala39=)
c.*220C>G (n.*220C>G)
n.128C>G
n.520C>G
n.535C>G
c.720C>G (p.Ala240=)
n.537C>G
 dbSNP gnomAD v3 gnomAD v4
2g.174824477G=CA1308865700CHN1c.294C= (p.Ala98=)
c.-7C= (n.-7C=)
c.669C= (p.Ala223=)
c.123C= (p.Ala41=)
c.*116C= (n.*116C=)
c.147C= (p.Ala49=)
c.513C= (p.Ala171=)
n.312C=
c.193C=
c.261C= (p.Ala87=)
c.183C= (p.Ala61=)
c.253-11995C= (n.253-11995C=)
n.567C=
c.591C= (p.Ala197=)
c.117C= (p.Ala39=)
c.*220C= (n.*220C=)
n.128C=
n.520C=
n.535C=
c.720C= (p.Ala240=)
n.537C=
2g.174824477G>TCA430022757CHN1c.294C>A (p.Ala98=)
c.-7C>A (n.-7C>A)
c.669C>A (p.Ala223=)
c.123C>A (p.Ala41=)
c.*116C>A (n.*116C>A)
c.147C>A (p.Ala49=)
c.513C>A (p.Ala171=)
n.312C>A
c.193C>A
c.261C>A (p.Ala87=)
c.183C>A (p.Ala61=)
c.253-11995C>A (n.253-11995C>A)
n.567C>A
c.591C>A (p.Ala197=)
c.117C>A (p.Ala39=)
c.*220C>A (n.*220C>A)
n.128C>A
n.520C>A
n.535C>A
c.720C>A (p.Ala240=)
n.537C>A
 gnomAD v4
2g.174824478G>ACA258037CHN1c.293C>T (p.Ala98Val)
c.-8C>T (n.-8C>T)
c.668C>T (p.Ala223Val)
c.122C>T (p.Ala41Val)
c.*115C>T (n.*115C>T)
c.146C>T (p.Ala49Val)
c.512C>T (p.Ala171Val)
n.311C>T
c.192C>T
c.260C>T (p.Ala87Val)
c.182C>T (p.Ala61Val)
c.253-11996C>T (n.253-11996C>T)
n.566C>T
c.590C>T (p.Ala197Val)
c.116C>T (p.Ala39Val)
c.*219C>T (n.*219C>T)
n.127C>T
n.519C>T
n.534C>T
c.719C>T (p.Ala240Val)
n.536C>T
 ClinVar dbSNP gnomAD v4
2g.174824478G>CCA349347811CHN1c.293C>G (p.Ala98Gly)
c.-8C>G (n.-8C>G)
c.668C>G (p.Ala223Gly)
c.122C>G (p.Ala41Gly)
c.*115C>G (n.*115C>G)
c.146C>G (p.Ala49Gly)
c.512C>G (p.Ala171Gly)
n.311C>G
c.192C>G
c.260C>G (p.Ala87Gly)
c.182C>G (p.Ala61Gly)
c.253-11996C>G (n.253-11996C>G)
n.566C>G
c.590C>G (p.Ala197Gly)
c.116C>G (p.Ala39Gly)
c.*219C>G (n.*219C>G)
n.127C>G
n.519C>G
n.534C>G
c.719C>G (p.Ala240Gly)
n.536C>G
2g.174824478G=CA1308865701CHN1c.293C= (p.Ala98=)
c.-8C= (n.-8C=)
c.668C= (p.Ala223=)
c.122C= (p.Ala41=)
c.*115C= (n.*115C=)
c.146C= (p.Ala49=)
c.512C= (p.Ala171=)
n.311C=
c.192C=
c.260C= (p.Ala87=)
c.182C= (p.Ala61=)
c.253-11996C= (n.253-11996C=)
n.566C=
c.590C= (p.Ala197=)
c.116C= (p.Ala39=)
c.*219C= (n.*219C=)
n.127C=
n.519C=
n.534C=
c.719C= (p.Ala240=)
n.536C=

Number of alleles fetched