Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169530754G>ACA526710644F5c.5208+32C>T (n.5208+32C>T)
c.5223+32C>T (n.5223+32C>T)
c.4797+32C>T (n.4797+32C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.169530754G=CA1206136205F5c.5208+32C= (n.5208+32C=)
c.5223+32C= (n.5223+32C=)
c.4797+32C= (n.4797+32C=)
1g.169530754G>TCA2574085109F5c.5208+32C>A (n.5208+32C>A)
c.5223+32C>A (n.5223+32C>A)
c.4797+32C>A (n.4797+32C>A)
 gnomAD v4
1g.169530757T>GCA2649035897F5c.5208+29A>C (n.5208+29A>C)
c.5223+29A>C (n.5223+29A>C)
c.4797+29A>C (n.4797+29A>C)
 gnomAD v4
1g.169530758G>TCA2649035899F5c.5208+28C>A (n.5208+28C>A)
c.5223+28C>A (n.5223+28C>A)
c.4797+28C>A (n.4797+28C>A)
 gnomAD v4
1g.169530760G>ACA526710645F5c.5208+26C>T (n.5208+26C>T)
c.5223+26C>T (n.5223+26C>T)
c.4797+26C>T (n.4797+26C>T)
 dbSNP gnomAD v2
1g.169530760G=CA1206136206F5c.5208+26C= (n.5208+26C=)
c.5223+26C= (n.5223+26C=)
c.4797+26C= (n.4797+26C=)
1g.169530760G>TCA2649035901F5c.5208+26C>A (n.5208+26C>A)
c.5223+26C>A (n.5223+26C>A)
c.4797+26C>A (n.4797+26C>A)
 gnomAD v4
1g.169530761A=CA1206136207F5c.5208+25T= (n.5208+25T=)
c.5223+25T= (n.5223+25T=)
c.4797+25T= (n.4797+25T=)
1g.169530761A>GCA1206136208F5c.5208+25T>C (n.5208+25T>C)
c.5223+25T>C (n.5223+25T>C)
c.4797+25T>C (n.4797+25T>C)
 dbSNP gnomAD v4
1g.169530762A>CCA2574085110F5c.5208+24T>G (n.5208+24T>G)
c.5223+24T>G (n.5223+24T>G)
c.4797+24T>G (n.4797+24T>G)
1g.169530764A>TCA2574085111F5c.5208+22T>A (n.5208+22T>A)
c.5223+22T>A (n.5223+22T>A)
c.4797+22T>A (n.4797+22T>A)
1g.169530769T>GCA2574085112F5c.5208+17A>C (n.5208+17A>C)
c.5223+17A>C (n.5223+17A>C)
c.4797+17A>C (n.4797+17A>C)
1g.169530770C>GCA2739275410F5c.5208+16G>C (n.5208+16G>C)
c.5223+16G>C (n.5223+16G>C)
c.4797+16G>C (n.4797+16G>C)
 ClinVar
1g.169530770C>TCA2649035905F5c.5208+16G>A (n.5208+16G>A)
c.5223+16G>A (n.5223+16G>A)
c.4797+16G>A (n.4797+16G>A)
 gnomAD v4
1g.169530771A=CA1206136209F5c.5208+15T= (n.5208+15T=)
c.5223+15T= (n.5223+15T=)
c.4797+15T= (n.4797+15T=)
1g.169530771A>CCA1206136210F5c.5208+15T>G (n.5208+15T>G)
c.5223+15T>G (n.5223+15T>G)
c.4797+15T>G (n.4797+15T>G)
 dbSNP
1g.169530772A=CA1147761354F5c.5208+14T= (n.5208+14T=)
c.5223+14T= (n.5223+14T=)
c.4797+14T= (n.4797+14T=)
1g.169530772A>GCA1233558F5c.5208+14T>C (n.5208+14T>C)
c.5223+14T>C (n.5223+14T>C)
c.4797+14T>C (n.4797+14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530772A>TCA2574085113F5c.5208+14T>A (n.5208+14T>A)
c.5223+14T>A (n.5223+14T>A)
c.4797+14T>A (n.4797+14T>A)
 gnomAD v4
1g.169530774G=CA1206136211F5c.5208+12C= (n.5208+12C=)
c.5223+12C= (n.5223+12C=)
c.4797+12C= (n.4797+12C=)
1g.169530774G>TCA526710646F5c.5208+12C>A (n.5208+12C>A)
c.5223+12C>A (n.5223+12C>A)
c.4797+12C>A (n.4797+12C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.169530775A=CA1206136212F5c.5208+11T= (n.5208+11T=)
c.5223+11T= (n.5223+11T=)
c.4797+11T= (n.4797+11T=)
1g.169530775A>GCA1233559F5c.5208+11T>C (n.5208+11T>C)
c.5223+11T>C (n.5223+11T>C)
c.4797+11T>C (n.4797+11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169530776A=CA1206136213F5c.5208+10T= (n.5208+10T=)
c.5223+10T= (n.5223+10T=)
c.4797+10T= (n.4797+10T=)
1g.169530776A>GCA1233560F5c.5208+10T>C (n.5208+10T>C)
c.5223+10T>C (n.5223+10T>C)
c.4797+10T>C (n.4797+10T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530777A>TCA2746574154F5c.5208+9T>A (n.5208+9T>A)
c.5223+9T>A (n.5223+9T>A)
c.4797+9T>A (n.4797+9T>A)
1g.169530779T>CCA1233561F5c.5208+7A>G (n.5208+7A>G)
c.5223+7A>G (n.5223+7A>G)
c.4797+7A>G (n.4797+7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169530779T=CA1206136214F5c.5208+7A= (n.5208+7A=)
c.5223+7A= (n.5223+7A=)
c.4797+7A= (n.4797+7A=)
1g.169530779_169530780insTGACA2649035925F5c.5208+6_5208+7insTCA (n.5208+6_5208+7insTCA)
c.5223+6_5223+7insTCA (n.5223+6_5223+7insTCA)
c.4797+6_4797+7insTCA (n.4797+6_4797+7insTCA)
 gnomAD v4
1g.169530782C>ACA2649035928F5c.5208+4G>T (n.5208+4G>T)
c.5223+4G>T (n.5223+4G>T)
c.4797+4G>T (n.4797+4G>T)
 gnomAD v4
1g.169530782C=CA1206136215F5c.5208+4G= (n.5208+4G=)
c.5223+4G= (n.5223+4G=)
c.4797+4G= (n.4797+4G=)
1g.169530782C>TCA1206136216F5c.5208+4G>A (n.5208+4G>A)
c.5223+4G>A (n.5223+4G>A)
c.4797+4G>A (n.4797+4G>A)
 dbSNP gnomAD v4
1g.169530783T>CCA2649035932F5c.5208+3A>G (n.5208+3A>G)
c.5223+3A>G (n.5223+3A>G)
c.4797+3A>G (n.4797+3A>G)
 gnomAD v4
1g.169530784A>CCA343131868F5c.5208+2T>G (n.5208+2T>G)
c.5223+2T>G (n.5223+2T>G)
c.4797+2T>G (n.4797+2T>G)
1g.169530784A>GCA343131869F5c.5208+2T>C (n.5208+2T>C)
c.5223+2T>C (n.5223+2T>C)
c.4797+2T>C (n.4797+2T>C)
1g.169530784A>TCA343131874F5c.5208+2T>A (n.5208+2T>A)
c.5223+2T>A (n.5223+2T>A)
c.4797+2T>A (n.4797+2T>A)
1g.169530785C>ACA343131882F5c.5208+1G>T (n.5208+1G>T)
c.5223+1G>T (n.5223+1G>T)
c.4797+1G>T (n.4797+1G>T)
1g.169530785C=CA1206136217F5c.5208+1G= (n.5208+1G=)
c.5223+1G= (n.5223+1G=)
c.4797+1G= (n.4797+1G=)
1g.169530785C>GCA343131887F5c.5208+1G>C (n.5208+1G>C)
c.5223+1G>C (n.5223+1G>C)
c.4797+1G>C (n.4797+1G>C)
1g.169530785C>TCA32435434F5c.5208+1G>A (n.5208+1G>A)
c.5223+1G>A (n.5223+1G>A)
c.4797+1G>A (n.4797+1G>A)
 dbSNP
1g.169530786T>ACA421738008F5c.5208A>T (p.Pro1736=)
c.5223A>T (p.Pro1741=)
c.4797A>T (p.Pro1599=)
1g.169530786T>CCA421738009F5c.5208A>G (p.Pro1736=)
c.5223A>G (p.Pro1741=)
c.4797A>G (p.Pro1599=)
 dbSNP
1g.169530786T>GCA421738010F5c.5208A>C (p.Pro1736=)
c.5223A>C (p.Pro1741=)
c.4797A>C (p.Pro1599=)
1g.169530786T=CA1206136218F5c.5208A= (p.Pro1736=)
c.5223A= (p.Pro1741=)
c.4797A= (p.Pro1599=)
1g.169530787G>ACA343131904F5c.5207C>T (p.Pro1736Leu)
c.5222C>T (p.Pro1741Leu)
c.4796C>T (p.Pro1599Leu)
1g.169530787G>CCA343131905F5c.5207C>G (p.Pro1736Arg)
c.5222C>G (p.Pro1741Arg)
c.4796C>G (p.Pro1599Arg)
1g.169530787G>TCA343131902F5c.5207C>A (p.Pro1736Gln)
c.5222C>A (p.Pro1741Gln)
c.4796C>A (p.Pro1599Gln)
1g.169530788G>ACA343131917F5c.5206C>T (p.Pro1736Ser)
c.5221C>T (p.Pro1741Ser)
c.4795C>T (p.Pro1599Ser)
1g.169530788G>CCA343131907F5c.5206C>G (p.Pro1736Ala)
c.5221C>G (p.Pro1741Ala)
c.4795C>G (p.Pro1599Ala)
1g.169530788G=CA1206136219F5c.5206C= (p.Pro1736=)
c.5221C= (p.Pro1741=)
c.4795C= (p.Pro1599=)
1g.169530788G>TCA1233562F5c.5206C>A (p.Pro1736Thr)
c.5221C>A (p.Pro1741Thr)
c.4795C>A (p.Pro1599Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169530789G>ACA421738011F5c.5205C>T (p.Asn1735=)
c.5220C>T (p.Asn1740=)
c.4794C>T (p.Asn1598=)
 gnomAD v4
1g.169530789G>CCA343131921F5c.5205C>G (p.Asn1735Lys)
c.5220C>G (p.Asn1740Lys)
c.4794C>G (p.Asn1598Lys)
1g.169530789G>TCA343131925F5c.5205C>A (p.Asn1735Lys)
c.5220C>A (p.Asn1740Lys)
c.4794C>A (p.Asn1598Lys)
1g.169530790T>ACA343131929F5c.5204A>T (p.Asn1735Ile)
c.5219A>T (p.Asn1740Ile)
c.4793A>T (p.Asn1598Ile)
1g.169530790T>CCA343131930F5c.5204A>G (p.Asn1735Ser)
c.5219A>G (p.Asn1740Ser)
c.4793A>G (p.Asn1598Ser)
1g.169530790T>GCA343131931F5c.5204A>C (p.Asn1735Thr)
c.5219A>C (p.Asn1740Thr)
c.4793A>C (p.Asn1598Thr)
1g.169530791T>ACA343131942F5c.5203A>T (p.Asn1735Tyr)
c.5218A>T (p.Asn1740Tyr)
c.4792A>T (p.Asn1598Tyr)
1g.169530791T>CCA343131946F5c.5203A>G (p.Asn1735Asp)
c.5218A>G (p.Asn1740Asp)
c.4792A>G (p.Asn1598Asp)
1g.169530791T>GCA343131947F5c.5203A>C (p.Asn1735His)
c.5218A>C (p.Asn1740His)
c.4792A>C (p.Asn1598His)
1g.169530792C>ACA421738015F5c.5202G>T (p.Val1734=)
c.5217G>T (p.Val1739=)
c.4791G>T (p.Val1597=)
1g.169530792C=CA1206136220F5c.5202G= (p.Val1734=)
c.5217G= (p.Val1739=)
c.4791G= (p.Val1597=)
1g.169530792C>GCA421738016F5c.5202G>C (p.Val1734=)
c.5217G>C (p.Val1739=)
c.4791G>C (p.Val1597=)
1g.169530792C>TCA32435444F5c.5202G>A (p.Val1734=)
c.5217G>A (p.Val1739=)
c.4791G>A (p.Val1597=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169530793A=CA1206136221F5c.5201T= (p.Val1734=)
c.5216T= (p.Val1739=)
c.4790T= (p.Val1597=)
1g.169530793A>CCA343131948F5c.5201T>G (p.Val1734Gly)
c.5216T>G (p.Val1739Gly)
c.4790T>G (p.Val1597Gly)
1g.169530793A>GCA343131950F5c.5201T>C (p.Val1734Ala)
c.5216T>C (p.Val1739Ala)
c.4790T>C (p.Val1597Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.169530793A>TCA343131959F5c.5201T>A (p.Val1734Glu)
c.5216T>A (p.Val1739Glu)
c.4790T>A (p.Val1597Glu)
1g.169530794C>ACA343131977F5c.5200G>T (p.Val1734Leu)
c.5215G>T (p.Val1739Leu)
c.4789G>T (p.Val1597Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.169530794C=CA1206136222F5c.5200G= (p.Val1734=)
c.5215G= (p.Val1739=)
c.4789G= (p.Val1597=)
1g.169530794C>GCA343131965F5c.5200G>C (p.Val1734Leu)
c.5215G>C (p.Val1739Leu)
c.4789G>C (p.Val1597Leu)
1g.169530794C>TCA1233563F5c.5200G>A (p.Val1734Met)
c.5215G>A (p.Val1739Met)
c.4789G>A (p.Val1597Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169530795A>CCA421738018F5c.5199T>G (p.Ala1733=)
c.5214T>G (p.Ala1738=)
c.4788T>G (p.Ala1596=)
1g.169530795A>GCA421738019F5c.5199T>C (p.Ala1733=)
c.5214T>C (p.Ala1738=)
c.4788T>C (p.Ala1596=)
1g.169530795A>TCA421738020F5c.5199T>A (p.Ala1733=)
c.5214T>A (p.Ala1738=)
c.4788T>A (p.Ala1596=)
1g.169530796G>ACA343131979F5c.5198C>T (p.Ala1733Val)
c.5213C>T (p.Ala1738Val)
c.4787C>T (p.Ala1596Val)
1g.169530796G>CCA343131980F5c.5198C>G (p.Ala1733Gly)
c.5213C>G (p.Ala1738Gly)
c.4787C>G (p.Ala1596Gly)
1g.169530796G>TCA343131989F5c.5198C>A (p.Ala1733Asp)
c.5213C>A (p.Ala1738Asp)
c.4787C>A (p.Ala1596Asp)
1g.169530797C>ACA343132013F5c.5197G>T (p.Ala1733Ser)
c.5212G>T (p.Ala1738Ser)
c.4786G>T (p.Ala1596Ser)
 dbSNP
1g.169530797C=CA1206136223F5c.5197G= (p.Ala1733=)
c.5212G= (p.Ala1738=)
c.4786G= (p.Ala1596=)
1g.169530797C>GCA343132014F5c.5197G>C (p.Ala1733Pro)
c.5212G>C (p.Ala1738Pro)
c.4786G>C (p.Ala1596Pro)
1g.169530797C>TCA343132016F5c.5197G>A (p.Ala1733Thr)
c.5212G>A (p.Ala1738Thr)
c.4786G>A (p.Ala1596Thr)
1g.169530798T>ACA421738027F5c.5196A>T (p.Ser1732=)
c.5211A>T (p.Ser1737=)
c.4785A>T (p.Ser1595=)
 dbSNP gnomAD v2 gnomAD v4
1g.169530798T>CCA421738023F5c.5196A>G (p.Ser1732=)
c.5211A>G (p.Ser1737=)
c.4785A>G (p.Ser1595=)
1g.169530798T>GCA421738025F5c.5196A>C (p.Ser1732=)
c.5211A>C (p.Ser1737=)
c.4785A>C (p.Ser1595=)
1g.169530798T=CA1206136224F5c.5196A= (p.Ser1732=)
c.5211A= (p.Ser1737=)
c.4785A= (p.Ser1595=)
1g.169530799G>ACA343132017F5c.5195C>T (p.Ser1732Leu)
c.5210C>T (p.Ser1737Leu)
c.4784C>T (p.Ser1595Leu)
 gnomAD v4
1g.169530799G>CCA343132023F5c.5195C>G (p.Ser1732Ter)
c.5210C>G (p.Ser1737Ter)
c.4784C>G (p.Ser1595Ter)
1g.169530799G>TCA343132034F5c.5195C>A (p.Ser1732Ter)
c.5210C>A (p.Ser1737Ter)
c.4784C>A (p.Ser1595Ter)
 COSMIC
1g.169530800A>CCA343132054F5c.5194T>G (p.Ser1732Ala)
c.5209T>G (p.Ser1737Ala)
c.4783T>G (p.Ser1595Ala)
1g.169530800A>GCA343132061F5c.5194T>C (p.Ser1732Pro)
c.5209T>C (p.Ser1737Pro)
c.4783T>C (p.Ser1595Pro)
1g.169530800A>TCA343132065F5c.5194T>A (p.Ser1732Thr)
c.5209T>A (p.Ser1737Thr)
c.4783T>A (p.Ser1595Thr)
1g.169530801G>ACA421738031F5c.5193C>T (p.Tyr1731=)
c.5208C>T (p.Tyr1736=)
c.4782C>T (p.Tyr1594=)
 dbSNP gnomAD v2 gnomAD v4
1g.169530801G>CCA343132071F5c.5193C>G (p.Tyr1731Ter)
c.5208C>G (p.Tyr1736Ter)
c.4782C>G (p.Tyr1594Ter)
1g.169530801G=CA1206136225F5c.5193C= (p.Tyr1731=)
c.5208C= (p.Tyr1736=)
c.4782C= (p.Tyr1594=)
1g.169530801G>TCA343132070F5c.5193C>A (p.Tyr1731Ter)
c.5208C>A (p.Tyr1736Ter)
c.4782C>A (p.Tyr1594Ter)
1g.169530802T>ACA343132072F5c.5192A>T (p.Tyr1731Phe)
c.5207A>T (p.Tyr1736Phe)
c.4781A>T (p.Tyr1594Phe)
1g.169530802T>CCA343132076F5c.5192A>G (p.Tyr1731Cys)
c.5207A>G (p.Tyr1736Cys)
c.4781A>G (p.Tyr1594Cys)
 COSMIC
1g.169530802T>GCA343132073F5c.5192A>C (p.Tyr1731Ser)
c.5207A>C (p.Tyr1736Ser)
c.4781A>C (p.Tyr1594Ser)
1g.169530803A=CA1206136226F5c.5191T= (p.Tyr1731=)
c.5206T= (p.Tyr1736=)
c.4780T= (p.Tyr1594=)
1g.169530803A>CCA343132088F5c.5191T>G (p.Tyr1731Asp)
c.5206T>G (p.Tyr1736Asp)
c.4780T>G (p.Tyr1594Asp)
1g.169530803A>GCA343132092F5c.5191T>C (p.Tyr1731His)
c.5206T>C (p.Tyr1736His)
c.4780T>C (p.Tyr1594His)
 dbSNP
1g.169530803A>TCA343132101F5c.5191T>A (p.Tyr1731Asn)
c.5206T>A (p.Tyr1736Asn)
c.4780T>A (p.Tyr1594Asn)
1g.169530804G>ACA421738035F5c.5190C>T (p.Tyr1730=)
c.5205C>T (p.Tyr1735=)
c.4779C>T (p.Tyr1593=)
1g.169530804G>CCA343132106F5c.5190C>G (p.Tyr1730Ter)
c.5205C>G (p.Tyr1735Ter)
c.4779C>G (p.Tyr1593Ter)
 COSMIC
1g.169530804G>TCA343132114F5c.5190C>A (p.Tyr1730Ter)
c.5205C>A (p.Tyr1735Ter)
c.4779C>A (p.Tyr1593Ter)
1g.169530805T>ACA343132143F5c.5189A>T (p.Tyr1730Phe)
c.5204A>T (p.Tyr1735Phe)
c.4778A>T (p.Tyr1593Phe)
1g.169530805T>CCA251551F5c.5189A>G (p.Tyr1730Cys)
c.5204A>G (p.Tyr1735Cys)
c.4778A>G (p.Tyr1593Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530805T>GCA343132153F5c.5189A>C (p.Tyr1730Ser)
c.5204A>C (p.Tyr1735Ser)
c.4778A>C (p.Tyr1593Ser)
1g.169530805T=CA1141580289F5c.5189A= (p.Tyr1730=)
c.5204A= (p.Tyr1735=)
c.4778A= (p.Tyr1593=)
1g.169530806A>CCA343132158F5c.5188T>G (p.Tyr1730Asp)
c.5203T>G (p.Tyr1735Asp)
c.4777T>G (p.Tyr1593Asp)
1g.169530806A>GCA343132178F5c.5188T>C (p.Tyr1730His)
c.5203T>C (p.Tyr1735His)
c.4777T>C (p.Tyr1593His)
1g.169530806A>TCA343132180F5c.5188T>A (p.Tyr1730Asn)
c.5203T>A (p.Tyr1735Asn)
c.4777T>A (p.Tyr1593Asn)
1g.169530807G>ACA421738039F5c.5187C>T (p.Ala1729=)
c.5202C>T (p.Ala1734=)
c.4776C>T (p.Ala1592=)
 gnomAD v4
1g.169530807G>CCA421738041F5c.5187C>G (p.Ala1729=)
c.5202C>G (p.Ala1734=)
c.4776C>G (p.Ala1592=)
 dbSNP gnomAD v4
1g.169530807G=CA1206136227F5c.5187C= (p.Ala1729=)
c.5202C= (p.Ala1734=)
c.4776C= (p.Ala1592=)
1g.169530807G>TCA421738042F5c.5187C>A (p.Ala1729=)
c.5202C>A (p.Ala1734=)
c.4776C>A (p.Ala1592=)
1g.169530808G>ACA343132205F5c.5186C>T (p.Ala1729Val)
c.5201C>T (p.Ala1734Val)
c.4775C>T (p.Ala1592Val)
 gnomAD v4
1g.169530808G>CCA343132197F5c.5186C>G (p.Ala1729Gly)
c.5201C>G (p.Ala1734Gly)
c.4775C>G (p.Ala1592Gly)
1g.169530808G>TCA343132190F5c.5186C>A (p.Ala1729Asp)
c.5201C>A (p.Ala1734Asp)
c.4775C>A (p.Ala1592Asp)
1g.169530808_169530809delinsGCCA1206136228F5c.5185_5186delinsGC (p.Ala1729=)
c.5200_5201delinsGC (p.Ala1734=)
c.4774_4775delinsGC (p.Ala1592=)
1g.169530809C>ACA343132206F5c.5185G>T (p.Ala1729Ser)
c.5200G>T (p.Ala1734Ser)
c.4774G>T (p.Ala1592Ser)
1g.169530809C=CA1206136230F5c.5185G= (p.Ala1729=)
c.5200G= (p.Ala1734=)
c.4774G= (p.Ala1592=)
1g.169530809C>GCA343132207F5c.5185G>C (p.Ala1729Pro)
c.5200G>C (p.Ala1734Pro)
c.4774G>C (p.Ala1592Pro)
1g.169530809C>TCA343132210F5c.5185G>A (p.Ala1729Thr)
c.5200G>A (p.Ala1734Thr)
c.4774G>A (p.Ala1592Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.169530811delCA1206136229F5c.5185del (p.Ala1729ProfsTer6)
c.5200del (p.Ala1734ProfsTer6)
c.4774del (p.Ala1592ProfsTer6)
 dbSNP
1g.169530810C>ACA343132213F5c.5184G>T (p.Trp1728Cys)
c.5199G>T (p.Trp1733Cys)
c.4773G>T (p.Trp1591Cys)
1g.169530810C>GCA343132220F5c.5184G>C (p.Trp1728Cys)
c.5199G>C (p.Trp1733Cys)
c.4773G>C (p.Trp1591Cys)
1g.169530810C>TCA343132225F5c.5184G>A (p.Trp1728Ter)
c.5199G>A (p.Trp1733Ter)
c.4773G>A (p.Trp1591Ter)
1g.169530811C>ACA343132232F5c.5183G>T (p.Trp1728Leu)
c.5198G>T (p.Trp1733Leu)
c.4772G>T (p.Trp1591Leu)
1g.169530811C>GCA343132242F5c.5183G>C (p.Trp1728Ser)
c.5198G>C (p.Trp1733Ser)
c.4772G>C (p.Trp1591Ser)
1g.169530811C>TCA343132245F5c.5183G>A (p.Trp1728Ter)
c.5198G>A (p.Trp1733Ter)
c.4772G>A (p.Trp1591Ter)
1g.169530812A>CCA343132249F5c.5182T>G (p.Trp1728Gly)
c.5197T>G (p.Trp1733Gly)
c.4771T>G (p.Trp1591Gly)
1g.169530812A>GCA343132250F5c.5182T>C (p.Trp1728Arg)
c.5197T>C (p.Trp1733Arg)
c.4771T>C (p.Trp1591Arg)
1g.169530812A>TCA343132251F5c.5182T>A (p.Trp1728Arg)
c.5197T>A (p.Trp1733Arg)
c.4771T>A (p.Trp1591Arg)
1g.169530813A>CCA421738047F5c.5181T>G (p.Ala1727=)
c.5196T>G (p.Ala1732=)
c.4770T>G (p.Ala1590=)
1g.169530813A>GCA421738048F5c.5181T>C (p.Ala1727=)
c.5196T>C (p.Ala1732=)
c.4770T>C (p.Ala1590=)
 gnomAD v4
1g.169530813A>TCA421738049F5c.5181T>A (p.Ala1727=)
c.5196T>A (p.Ala1732=)
c.4770T>A (p.Ala1590=)
1g.169530814G>ACA343132266F5c.5180C>T (p.Ala1727Val)
c.5195C>T (p.Ala1732Val)
c.4769C>T (p.Ala1590Val)
 gnomAD v4
1g.169530814G>CCA343132261F5c.5180C>G (p.Ala1727Gly)
c.5195C>G (p.Ala1732Gly)
c.4769C>G (p.Ala1590Gly)
1g.169530814G>TCA343132255F5c.5180C>A (p.Ala1727Asp)
c.5195C>A (p.Ala1732Asp)
c.4769C>A (p.Ala1590Asp)
1g.169530815C>ACA343132271F5c.5179G>T (p.Ala1727Ser)
c.5194G>T (p.Ala1732Ser)
c.4768G>T (p.Ala1590Ser)
1g.169530815C=CA1206136231F5c.5179G= (p.Ala1727=)
c.5194G= (p.Ala1732=)
c.4768G= (p.Ala1590=)
1g.169530815C>GCA343132296F5c.5179G>C (p.Ala1727Pro)
c.5194G>C (p.Ala1732Pro)
c.4768G>C (p.Ala1590Pro)
1g.169530815C>TCA343132288F5c.5179G>A (p.Ala1727Thr)
c.5194G>A (p.Ala1732Thr)
c.4768G>A (p.Ala1590Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.169530816C>ACA421738051F5c.5178G>T (p.Arg1726=)
c.5193G>T (p.Arg1731=)
c.4767G>T (p.Arg1589=)
1g.169530816C>GCA421738052F5c.5178G>C (p.Arg1726=)
c.5193G>C (p.Arg1731=)
c.4767G>C (p.Arg1589=)
1g.169530816C>TCA421738054F5c.5178G>A (p.Arg1726=)
c.5193G>A (p.Arg1731=)
c.4767G>A (p.Arg1589=)
1g.169530817C>ACA343132300F5c.5177G>T (p.Arg1726Leu)
c.5192G>T (p.Arg1731Leu)
c.4766G>T (p.Arg1589Leu)
1g.169530817C=CA1143668889F5c.5177G= (p.Arg1726=)
c.5192G= (p.Arg1731=)
c.4766G= (p.Arg1589=)
1g.169530817C>GCA343132301F5c.5177G>C (p.Arg1726Pro)
c.5192G>C (p.Arg1731Pro)
c.4766G>C (p.Arg1589Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.169530817C>TCA1233564F5c.5177G>A (p.Arg1726Gln)
c.5192G>A (p.Arg1731Gln)
c.4766G>A (p.Arg1589Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530818G>ACA1233565F5c.5176C>T (p.Arg1726Trp)
c.5191C>T (p.Arg1731Trp)
c.4765C>T (p.Arg1589Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169530818G>CCA343132318F5c.5176C>G (p.Arg1726Gly)
c.5191C>G (p.Arg1731Gly)
c.4765C>G (p.Arg1589Gly)
 gnomAD v4 COSMIC
1g.169530818G=CA1143532676F5c.5176C= (p.Arg1726=)
c.5191C= (p.Arg1731=)
c.4765C= (p.Arg1589=)
1g.169530818G>TCA421738056F5c.5176C>A (p.Arg1726=)
c.5191C>A (p.Arg1731=)
c.4765C>A (p.Arg1589=)
 gnomAD v4
1g.169530819A>CCA343132321F5c.5175T>G (p.Cys1725Trp)
c.5190T>G (p.Cys1730Trp)
c.4764T>G (p.Cys1588Trp)
1g.169530819A>GCA421738057F5c.5175T>C (p.Cys1725=)
c.5190T>C (p.Cys1730=)
c.4764T>C (p.Cys1588=)
1g.169530819A>TCA343132328F5c.5175T>A (p.Cys1725Ter)
c.5190T>A (p.Cys1730Ter)
c.4764T>A (p.Cys1588Ter)
1g.169530820C>ACA343132330F5c.5174G>T (p.Cys1725Phe)
c.5189G>T (p.Cys1730Phe)
c.4763G>T (p.Cys1588Phe)
 COSMIC
1g.169530820C>GCA343132334F5c.5174G>C (p.Cys1725Ser)
c.5189G>C (p.Cys1730Ser)
c.4763G>C (p.Cys1588Ser)
1g.169530820C>TCA343132337F5c.5174G>A (p.Cys1725Tyr)
c.5189G>A (p.Cys1730Tyr)
c.4763G>A (p.Cys1588Tyr)
1g.169530821A=CA1206136232F5c.5173T= (p.Cys1725=)
c.5188T= (p.Cys1730=)
c.4762T= (p.Cys1588=)
1g.169530821A>CCA343132340F5c.5173T>G (p.Cys1725Gly)
c.5188T>G (p.Cys1730Gly)
c.4762T>G (p.Cys1588Gly)
1g.169530821A>GCA32435475F5c.5173T>C (p.Cys1725Arg)
c.5188T>C (p.Cys1730Arg)
c.4762T>C (p.Cys1588Arg)
 dbSNP
1g.169530821A>TCA343132350F5c.5173T>A (p.Cys1725Ser)
c.5188T>A (p.Cys1730Ser)
c.4762T>A (p.Cys1588Ser)
1g.169530822G>ACA421738060F5c.5172C>T (p.Ala1724=)
c.5187C>T (p.Ala1729=)
c.4761C>T (p.Ala1587=)
1g.169530822G>CCA421738061F5c.5172C>G (p.Ala1724=)
c.5187C>G (p.Ala1729=)
c.4761C>G (p.Ala1587=)
1g.169530822G>TCA421738062F5c.5172C>A (p.Ala1724=)
c.5187C>A (p.Ala1729=)
c.4761C>A (p.Ala1587=)
1g.169530823G>ACA343132353F5c.5171C>T (p.Ala1724Val)
c.5186C>T (p.Ala1729Val)
c.4760C>T (p.Ala1587Val)
1g.169530823G>CCA343132355F5c.5171C>G (p.Ala1724Gly)
c.5186C>G (p.Ala1729Gly)
c.4760C>G (p.Ala1587Gly)
1g.169530823G>TCA343132357F5c.5171C>A (p.Ala1724Asp)
c.5186C>A (p.Ala1729Asp)
c.4760C>A (p.Ala1587Asp)
 gnomAD v4
1g.169530824C>ACA343132359F5c.5170G>T (p.Ala1724Ser)
c.5185G>T (p.Ala1729Ser)
c.4759G>T (p.Ala1587Ser)
 gnomAD v4
1g.169530824C>GCA343132367F5c.5170G>C (p.Ala1724Pro)
c.5185G>C (p.Ala1729Pro)
c.4759G>C (p.Ala1587Pro)
1g.169530824C>TCA343132362F5c.5170G>A (p.Ala1724Thr)
c.5185G>A (p.Ala1729Thr)
c.4759G>A (p.Ala1587Thr)
 COSMIC
1g.169530825A=CA1206136233F5c.5169T= (p.Ser1723=)
c.5184T= (p.Ser1728=)
c.4758T= (p.Ser1586=)
1g.169530825A>CCA421738066F5c.5169T>G (p.Ser1723=)
c.5184T>G (p.Ser1728=)
c.4758T>G (p.Ser1586=)
1g.169530825A>GCA421738065F5c.5169T>C (p.Ser1723=)
c.5184T>C (p.Ser1728=)
c.4758T>C (p.Ser1586=)
 dbSNP
1g.169530825A>TCA421738064F5c.5169T>A (p.Ser1723=)
c.5184T>A (p.Ser1728=)
c.4758T>A (p.Ser1586=)
1g.169530826G>ACA343132385F5c.5168C>T (p.Ser1723Phe)
c.5183C>T (p.Ser1728Phe)
c.4757C>T (p.Ser1586Phe)
1g.169530826G>CCA343132389F5c.5168C>G (p.Ser1723Cys)
c.5183C>G (p.Ser1728Cys)
c.4757C>G (p.Ser1586Cys)
1g.169530826G>TCA343132399F5c.5168C>A (p.Ser1723Tyr)
c.5183C>A (p.Ser1728Tyr)
c.4757C>A (p.Ser1586Tyr)
1g.169530827A>CCA343132405F5c.5167T>G (p.Ser1723Ala)
c.5182T>G (p.Ser1728Ala)
c.4756T>G (p.Ser1586Ala)
1g.169530827A>GCA343132409F5c.5167T>C (p.Ser1723Pro)
c.5182T>C (p.Ser1728Pro)
c.4756T>C (p.Ser1586Pro)
1g.169530827A>TCA343132413F5c.5167T>A (p.Ser1723Thr)
c.5182T>A (p.Ser1728Thr)
c.4756T>A (p.Ser1586Thr)
 ClinVar
1g.169530828G>ACA421738068F5c.5166C>T (p.Gly1722=)
c.5181C>T (p.Gly1727=)
c.4755C>T (p.Gly1585=)
1g.169530828G>CCA421738069F5c.5166C>G (p.Gly1722=)
c.5181C>G (p.Gly1727=)
c.4755C>G (p.Gly1585=)
1g.169530828G>TCA421738070F5c.5166C>A (p.Gly1722=)
c.5181C>A (p.Gly1727=)
c.4755C>A (p.Gly1585=)
1g.169530829C>ACA343132421F5c.5165G>T (p.Gly1722Val)
c.5180G>T (p.Gly1727Val)
c.4754G>T (p.Gly1585Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169530829C=CA1146396185F5c.5165G= (p.Gly1722=)
c.5180G= (p.Gly1727=)
c.4754G= (p.Gly1585=)
1g.169530829C>GCA343132426F5c.5165G>C (p.Gly1722Ala)
c.5180G>C (p.Gly1727Ala)
c.4754G>C (p.Gly1585Ala)
1g.169530829C>TCA1233566F5c.5165G>A (p.Gly1722Asp)
c.5180G>A (p.Gly1727Asp)
c.4754G>A (p.Gly1585Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530830C>ACA343132439F5c.5164G>T (p.Gly1722Cys)
c.5179G>T (p.Gly1727Cys)
c.4753G>T (p.Gly1585Cys)
1g.169530830C>GCA343132438F5c.5164G>C (p.Gly1722Arg)
c.5179G>C (p.Gly1727Arg)
c.4753G>C (p.Gly1585Arg)
1g.169530830C>TCA343132437F5c.5164G>A (p.Gly1722Ser)
c.5179G>A (p.Gly1727Ser)
c.4753G>A (p.Gly1585Ser)
 gnomAD v4
1g.169530831A=CA1206136234F5c.5163T= (p.Pro1721=)
c.5178T= (p.Pro1726=)
c.4752T= (p.Pro1584=)
1g.169530831A>CCA421738074F5c.5163T>G (p.Pro1721=)
c.5178T>G (p.Pro1726=)
c.4752T>G (p.Pro1584=)
1g.169530831A>GCA421738077F5c.5163T>C (p.Pro1721=)
c.5178T>C (p.Pro1726=)
c.4752T>C (p.Pro1584=)
 dbSNP gnomAD v2
1g.169530831A>TCA421738076F5c.5163T>A (p.Pro1721=)
c.5178T>A (p.Pro1726=)
c.4752T>A (p.Pro1584=)
1g.169530832G>ACA343132441F5c.5162C>T (p.Pro1721Leu)
c.5177C>T (p.Pro1726Leu)
c.4751C>T (p.Pro1584Leu)
1g.169530832G>CCA343132446F5c.5162C>G (p.Pro1721Arg)
c.5177C>G (p.Pro1726Arg)
c.4751C>G (p.Pro1584Arg)
 gnomAD v4
1g.169530832G>TCA343132451F5c.5162C>A (p.Pro1721His)
c.5177C>A (p.Pro1726His)
c.4751C>A (p.Pro1584His)
1g.169530833G>ACA343132456F5c.5161C>T (p.Pro1721Ser)
c.5176C>T (p.Pro1726Ser)
c.4750C>T (p.Pro1584Ser)
1g.169530833G>CCA343132469F5c.5161C>G (p.Pro1721Ala)
c.5176C>G (p.Pro1726Ala)
c.4750C>G (p.Pro1584Ala)
1g.169530833G>TCA343132472F5c.5161C>A (p.Pro1721Thr)
c.5176C>A (p.Pro1726Thr)
c.4750C>A (p.Pro1584Thr)
1g.169530834A>CCA343132479F5c.5160T>G (p.Ser1720Arg)
c.5175T>G (p.Ser1725Arg)
c.4749T>G (p.Ser1583Arg)
1g.169530834A>GCA421738083F5c.5160T>C (p.Ser1720=)
c.5175T>C (p.Ser1725=)
c.4749T>C (p.Ser1583=)
1g.169530834A>TCA343132482F5c.5160T>A (p.Ser1720Arg)
c.5175T>A (p.Ser1725Arg)
c.4749T>A (p.Ser1583Arg)
1g.169530835C>ACA343132489F5c.5159G>T (p.Ser1720Ile)
c.5174G>T (p.Ser1725Ile)
c.4748G>T (p.Ser1583Ile)
1g.169530835C=CA1206136235F5c.5159G= (p.Ser1720=)
c.5174G= (p.Ser1725=)
c.4748G= (p.Ser1583=)
1g.169530835C>GCA343132490F5c.5159G>C (p.Ser1720Thr)
c.5174G>C (p.Ser1725Thr)
c.4748G>C (p.Ser1583Thr)
1g.169530835C>TCA343132491F5c.5159G>A (p.Ser1720Asn)
c.5174G>A (p.Ser1725Asn)
c.4748G>A (p.Ser1583Asn)
 dbSNP gnomAD v4
1g.169530836T>ACA343132496F5c.5158A>T (p.Ser1720Cys)
c.5173A>T (p.Ser1725Cys)
c.4747A>T (p.Ser1583Cys)
1g.169530836T>CCA343132501F5c.5158A>G (p.Ser1720Gly)
c.5173A>G (p.Ser1725Gly)
c.4747A>G (p.Ser1583Gly)
 dbSNP
1g.169530836T>GCA343132506F5c.5158A>C (p.Ser1720Arg)
c.5173A>C (p.Ser1725Arg)
c.4747A>C (p.Ser1583Arg)
1g.169530836T=CA1206136236F5c.5158A= (p.Ser1720=)
c.5173A= (p.Ser1725=)
c.4747A= (p.Ser1583=)
1g.169530837T>ACA343132511F5c.5157A>T (p.Glu1719Asp)
c.5172A>T (p.Glu1724Asp)
c.4746A>T (p.Glu1582Asp)
 dbSNP
1g.169530837T>CCA421738087F5c.5157A>G (p.Glu1719=)
c.5172A>G (p.Glu1724=)
c.4746A>G (p.Glu1582=)
1g.169530837T>GCA343132515F5c.5157A>C (p.Glu1719Asp)
c.5172A>C (p.Glu1724Asp)
c.4746A>C (p.Glu1582Asp)
 gnomAD v4
1g.169530837T=CA1206136237F5c.5157A= (p.Glu1719=)
c.5172A= (p.Glu1724=)
c.4746A= (p.Glu1582=)
1g.169530838T>ACA343132520F5c.5156A>T (p.Glu1719Val)
c.5171A>T (p.Glu1724Val)
c.4745A>T (p.Glu1582Val)
1g.169530838T>CCA343132524F5c.5156A>G (p.Glu1719Gly)
c.5171A>G (p.Glu1724Gly)
c.4745A>G (p.Glu1582Gly)
 gnomAD v4
1g.169530838T>GCA343132531F5c.5156A>C (p.Glu1719Ala)
c.5171A>C (p.Glu1724Ala)
c.4745A>C (p.Glu1582Ala)
 dbSNP
1g.169530838T=CA1206136238F5c.5156A= (p.Glu1719=)
c.5171A= (p.Glu1724=)
c.4745A= (p.Glu1582=)
1g.169530839C>ACA343132537F5c.5155G>T (p.Glu1719Ter)
c.5170G>T (p.Glu1724Ter)
c.4744G>T (p.Glu1582Ter)
1g.169530839C>GCA343132543F5c.5155G>C (p.Glu1719Gln)
c.5170G>C (p.Glu1724Gln)
c.4744G>C (p.Glu1582Gln)
1g.169530839C>TCA343132548F5c.5155G>A (p.Glu1719Lys)
c.5170G>A (p.Glu1724Lys)
c.4744G>A (p.Glu1582Lys)
 gnomAD v4
1g.169530840T>ACA421738091F5c.5154A>T (p.Pro1718=)
c.5169A>T (p.Pro1723=)
c.4743A>T (p.Pro1581=)
1g.169530840T>CCA421738092F5c.5154A>G (p.Pro1718=)
c.5169A>G (p.Pro1723=)
c.4743A>G (p.Pro1581=)
1g.169530840T>GCA421738093F5c.5154A>C (p.Pro1718=)
c.5169A>C (p.Pro1723=)
c.4743A>C (p.Pro1581=)
1g.169530841G>ACA343132552F5c.5153C>T (p.Pro1718Leu)
c.5168C>T (p.Pro1723Leu)
c.4742C>T (p.Pro1581Leu)
1g.169530841G>CCA343132554F5c.5153C>G (p.Pro1718Arg)
c.5168C>G (p.Pro1723Arg)
c.4742C>G (p.Pro1581Arg)
 COSMIC
1g.169530841G>TCA343132555F5c.5153C>A (p.Pro1718Gln)
c.5168C>A (p.Pro1723Gln)
c.4742C>A (p.Pro1581Gln)
1g.169530842delCA2746574165F5c.5153del (p.Pro1718GlnfsTer17)
c.5168del (p.Pro1723GlnfsTer17)
c.4742del (p.Pro1581GlnfsTer17)
1g.169530842G>ACA343132556F5c.5152C>T (p.Pro1718Ser)
c.5167C>T (p.Pro1723Ser)
c.4741C>T (p.Pro1581Ser)
1g.169530842G>CCA343132559F5c.5152C>G (p.Pro1718Ala)
c.5167C>G (p.Pro1723Ala)
c.4741C>G (p.Pro1581Ala)
 gnomAD v4
1g.169530842G>TCA343132562F5c.5152C>A (p.Pro1718Thr)
c.5167C>A (p.Pro1723Thr)
c.4741C>A (p.Pro1581Thr)
1g.169530843C>ACA1233567F5c.5151G>T (p.Gly1717=)
c.5166G>T (p.Gly1722=)
c.4740G>T (p.Gly1580=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530843C=CA1206136239F5c.5151G= (p.Gly1717=)
c.5166G= (p.Gly1722=)
c.4740G= (p.Gly1580=)
1g.169530843C>GCA421738098F5c.5151G>C (p.Gly1717=)
c.5166G>C (p.Gly1722=)
c.4740G>C (p.Gly1580=)
1g.169530843C>TCA421738100F5c.5151G>A (p.Gly1717=)
c.5166G>A (p.Gly1722=)
c.4740G>A (p.Gly1580=)
1g.169530844C>ACA343132573F5c.5150G>T (p.Gly1717Val)
c.5165G>T (p.Gly1722Val)
c.4739G>T (p.Gly1580Val)
1g.169530844C>GCA343132571F5c.5150G>C (p.Gly1717Ala)
c.5165G>C (p.Gly1722Ala)
c.4739G>C (p.Gly1580Ala)
1g.169530844C>TCA343132572F5c.5150G>A (p.Gly1717Glu)
c.5165G>A (p.Gly1722Glu)
c.4739G>A (p.Gly1580Glu)
1g.169530845C>ACA343132574F5c.5149G>T (p.Gly1717Trp)
c.5164G>T (p.Gly1722Trp)
c.4738G>T (p.Gly1580Trp)
1g.169530845C=CA1144117491F5c.5149G= (p.Gly1717=)
c.5164G= (p.Gly1722=)
c.4738G= (p.Gly1580=)
1g.169530845C>GCA343132577F5c.5149G>C (p.Gly1717Arg)
c.5164G>C (p.Gly1722Arg)
c.4738G>C (p.Gly1580Arg)
1g.169530845C>TCA32435491F5c.5149G>A (p.Gly1717Arg)
c.5164G>A (p.Gly1722Arg)
c.4738G>A (p.Gly1580Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169530846T>ACA421738105F5c.5148A>T (p.Ser1716=)
c.5163A>T (p.Ser1721=)
c.4737A>T (p.Ser1579=)
1g.169530846T>CCA421738102F5c.5148A>G (p.Ser1716=)
c.5163A>G (p.Ser1721=)
c.4737A>G (p.Ser1579=)
 gnomAD v4
1g.169530846T>GCA421738103F5c.5148A>C (p.Ser1716=)
c.5163A>C (p.Ser1721=)
c.4737A>C (p.Ser1579=)
1g.169530847G>ACA343132594F5c.5147C>T (p.Ser1716Leu)
c.5162C>T (p.Ser1721Leu)
c.4736C>T (p.Ser1579Leu)
 gnomAD v4
1g.169530847G>CCA343132597F5c.5147C>G (p.Ser1716Ter)
c.5162C>G (p.Ser1721Ter)
c.4736C>G (p.Ser1579Ter)
1g.169530847G>TCA343132600F5c.5147C>A (p.Ser1716Ter)
c.5162C>A (p.Ser1721Ter)
c.4736C>A (p.Ser1579Ter)
1g.169530848A=CA1142135398F5c.5146T= (p.Ser1716=)
c.5161T= (p.Ser1721=)
c.4735T= (p.Ser1579=)
1g.169530848A>CCA343132605F5c.5146T>G (p.Ser1716Ala)
c.5161T>G (p.Ser1721Ala)
c.4735T>G (p.Ser1579Ala)
1g.169530848A>GCA343132606F5c.5146T>C (p.Ser1716Pro)
c.5161T>C (p.Ser1721Pro)
c.4735T>C (p.Ser1579Pro)
1g.169530848A>TCA32435494F5c.5146T>A (p.Ser1716Thr)
c.5161T>A (p.Ser1721Thr)
c.4735T>A (p.Ser1579Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169530849T>ACA421738110F5c.5145A>T (p.Arg1715=)
c.5160A>T (p.Arg1720=)
c.4734A>T (p.Arg1578=)
1g.169530849T>CCA421738111F5c.5145A>G (p.Arg1715=)
c.5160A>G (p.Arg1720=)
c.4734A>G (p.Arg1578=)
1g.169530849T>GCA421738112F5c.5145A>C (p.Arg1715=)
c.5160A>C (p.Arg1720=)
c.4734A>C (p.Arg1578=)
1g.169530850C>ACA343132612F5c.5144G>T (p.Arg1715Leu)
c.5159G>T (p.Arg1720Leu)
c.4733G>T (p.Arg1578Leu)
 gnomAD v4
1g.169530850C=CA1206136240F5c.5144G= (p.Arg1715=)
c.5159G= (p.Arg1720=)
c.4733G= (p.Arg1578=)
1g.169530850C>GCA343132613F5c.5144G>C (p.Arg1715Pro)
c.5159G>C (p.Arg1720Pro)
c.4733G>C (p.Arg1578Pro)
1g.169530850C>TCA343132614F5c.5144G>A (p.Arg1715Gln)
c.5159G>A (p.Arg1720Gln)
c.4733G>A (p.Arg1578Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169530851G>ACA1233568F5c.5143C>T (p.Arg1715Ter)
c.5158C>T (p.Arg1720Ter)
c.4732C>T (p.Arg1578Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169530851G>CCA343132616F5c.5143C>G (p.Arg1715Gly)
c.5158C>G (p.Arg1720Gly)
c.4732C>G (p.Arg1578Gly)
1g.169530851G=CA1148320915F5c.5143C= (p.Arg1715=)
c.5158C= (p.Arg1720=)
c.4732C= (p.Arg1578=)
1g.169530851G>TCA421738114F5c.5143C>A (p.Arg1715=)
c.5158C>A (p.Arg1720=)
c.4732C>A (p.Arg1578=)
1g.169530852C>ACA343132643F5c.5142G>T (p.Glu1714Asp)
c.5157G>T (p.Glu1719Asp)
c.4731G>T (p.Glu1577Asp)
1g.169530852C=CA1206136241F5c.5142G= (p.Glu1714=)
c.5157G= (p.Glu1719=)
c.4731G= (p.Glu1577=)
1g.169530852C>GCA343132645F5c.5142G>C (p.Glu1714Asp)
c.5157G>C (p.Glu1719Asp)
c.4731G>C (p.Glu1577Asp)
1g.169530852C>TCA421738117F5c.5142G>A (p.Glu1714=)
c.5157G>A (p.Glu1719=)
c.4731G>A (p.Glu1577=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169530853T>ACA343132649F5c.5141A>T (p.Glu1714Val)
c.5156A>T (p.Glu1719Val)
c.4730A>T (p.Glu1577Val)
 gnomAD v4
1g.169530853T>CCA343132668F5c.5141A>G (p.Glu1714Gly)
c.5156A>G (p.Glu1719Gly)
c.4730A>G (p.Glu1577Gly)
1g.169530853T>GCA343132679F5c.5141A>C (p.Glu1714Ala)
c.5156A>C (p.Glu1719Ala)
c.4730A>C (p.Glu1577Ala)
1g.169530854C>ACA343132697F5c.5140G>T (p.Glu1714Ter)
c.5155G>T (p.Glu1719Ter)
c.4729G>T (p.Glu1577Ter)
1g.169530854C=CA1206136242F5c.5140G= (p.Glu1714=)
c.5155G= (p.Glu1719=)
c.4729G= (p.Glu1577=)
1g.169530854C>GCA343132695F5c.5140G>C (p.Glu1714Gln)
c.5155G>C (p.Glu1719Gln)
c.4729G>C (p.Glu1577Gln)
1g.169530854C>TCA343132693F5c.5140G>A (p.Glu1714Lys)
c.5155G>A (p.Glu1719Lys)
c.4729G>A (p.Glu1577Lys)
 dbSNP gnomAD v4

Number of alleles fetched