Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169560601T>ACA343138161F5c.539A>T (p.Glu180Val)
c.128A>T (p.Glu43Val)
1g.169560601T>CCA343138165F5c.539A>G (p.Glu180Gly)
c.128A>G (p.Glu43Gly)
1g.169560601T>GCA343138167F5c.539A>C (p.Glu180Ala)
c.128A>C (p.Glu43Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169560601T=CA1206151772F5c.539A= (p.Glu180=)
c.128A= (p.Glu43=)
1g.169560602C>ACA343138176F5c.538G>T (p.Glu180Ter)
c.127G>T (p.Glu43Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.169560602C=CA1141911850F5c.538G= (p.Glu180=)
c.127G= (p.Glu43=)
1g.169560602C>GCA343138172F5c.538G>C (p.Glu180Gln)
c.127G>C (p.Glu43Gln)
1g.169560602C>TCA1234589F5c.538G>A (p.Glu180Lys)
c.127G>A (p.Glu43Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560603G>ACA1234590F5c.537C>T (p.Ile179=)
c.126C>T (p.Ile42=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169560603G>CCA343138188F5c.537C>G (p.Ile179Met)
c.126C>G (p.Ile42Met)
1g.169560603G=CA1147034618F5c.537C= (p.Ile179=)
c.126C= (p.Ile42=)
1g.169560603G>TCA1234591F5c.537C>A (p.Ile179=)
c.126C>A (p.Ile42=)
 dbSNP ExAC gnomAD v2
1g.169560604A>CCA343138208F5c.536T>G (p.Ile179Ser)
c.125T>G (p.Ile42Ser)
1g.169560604A>GCA343138213F5c.536T>C (p.Ile179Thr)
c.125T>C (p.Ile42Thr)
1g.169560604A>TCA343138218F5c.536T>A (p.Ile179Asn)
c.125T>A (p.Ile42Asn)
1g.169560605T>ACA343138221F5c.535A>T (p.Ile179Phe)
c.124A>T (p.Ile42Phe)
1g.169560605T>CCA343138222F5c.535A>G (p.Ile179Val)
c.124A>G (p.Ile42Val)
1g.169560605T>GCA343138235F5c.535A>C (p.Ile179Leu)
c.124A>C (p.Ile42Leu)
1g.169560606C>ACA421736443F5c.534G>T (p.Leu178=)
c.123G>T (p.Leu41=)
1g.169560606C>GCA421736441F5c.534G>C (p.Leu178=)
c.123G>C (p.Leu41=)
1g.169560606C>TCA421736442F5c.534G>A (p.Leu178=)
c.123G>A (p.Leu41=)
1g.169560607A>CCA343138239F5c.533T>G (p.Leu178Arg)
c.122T>G (p.Leu41Arg)
1g.169560607A>GCA343138247F5c.533T>C (p.Leu178Pro)
c.122T>C (p.Leu41Pro)
1g.169560607A>TCA343138248F5c.533T>A (p.Leu178Gln)
c.122T>A (p.Leu41Gln)
1g.169560608G>ACA421736447F5c.532C>T (p.Leu178=)
c.121C>T (p.Leu41=)
1g.169560608G>CCA343138258F5c.532C>G (p.Leu178Val)
c.121C>G (p.Leu41Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169560608G=CA1206151773F5c.532C= (p.Leu178=)
c.121C= (p.Leu41=)
1g.169560608G>TCA343138251F5c.532C>A (p.Leu178Met)
c.121C>A (p.Leu41Met)
 dbSNP COSMIC
1g.169560609A>CCA343138274F5c.531T>G (p.Asn177Lys)
c.120T>G (p.Asn40Lys)
1g.169560609A>GCA421736453F5c.531T>C (p.Asn177=)
c.120T>C (p.Asn40=)
1g.169560609A>TCA343138277F5c.531T>A (p.Asn177Lys)
c.120T>A (p.Asn40Lys)
1g.169560610T>ACA343138279F5c.530A>T (p.Asn177Ile)
c.119A>T (p.Asn40Ile)
1g.169560610T>CCA343138281F5c.530A>G (p.Asn177Ser)
c.119A>G (p.Asn40Ser)
 gnomAD v4
1g.169560610T>GCA343138283F5c.530A>C (p.Asn177Thr)
c.119A>C (p.Asn40Thr)
1g.169560611T>ACA343138287F5c.529A>T (p.Asn177Tyr)
c.118A>T (p.Asn40Tyr)
 gnomAD v4
1g.169560611T>CCA343138291F5c.529A>G (p.Asn177Asp)
c.118A>G (p.Asn40Asp)
1g.169560611T>GCA343138294F5c.529A>C (p.Asn177His)
c.118A>C (p.Asn40His)
1g.169560612T>ACA343138298F5c.528A>T (p.Glu176Asp)
c.117A>T (p.Glu39Asp)
1g.169560612T>CCA421736461F5c.528A>G (p.Glu176=)
c.117A>G (p.Glu39=)
1g.169560612T>GCA343138300F5c.528A>C (p.Glu176Asp)
c.117A>C (p.Glu39Asp)
1g.169560613T>ACA343138306F5c.527A>T (p.Glu176Val)
c.116A>T (p.Glu39Val)
1g.169560613T>CCA343138310F5c.527A>G (p.Glu176Gly)
c.116A>G (p.Glu39Gly)
1g.169560613T>GCA343138312F5c.527A>C (p.Glu176Ala)
c.116A>C (p.Glu39Ala)
1g.169560614C>ACA343138320F5c.526G>T (p.Glu176Ter)
c.115G>T (p.Glu39Ter)
1g.169560614C>GCA343138314F5c.526G>C (p.Glu176Gln)
c.115G>C (p.Glu39Gln)
1g.169560614C>TCA343138316F5c.526G>A (p.Glu176Lys)
c.115G>A (p.Glu39Lys)
1g.169560615A>CCA343138322F5c.525T>G (p.His175Gln)
c.114T>G (p.His38Gln)
1g.169560615A>GCA421736474F5c.525T>C (p.His175=)
c.114T>C (p.His38=)
1g.169560615A>TCA343138327F5c.525T>A (p.His175Gln)
c.114T>A (p.His38Gln)
1g.169560616T>ACA343138330F5c.524A>T (p.His175Leu)
c.113A>T (p.His38Leu)
1g.169560616T>CCA1234592F5c.524A>G (p.His175Arg)
c.113A>G (p.His38Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560616T>GCA343138337F5c.524A>C (p.His175Pro)
c.113A>C (p.His38Pro)
1g.169560616T=CA1143488275F5c.524A= (p.His175=)
c.113A= (p.His38=)
1g.169560617G>ACA343138352F5c.523C>T (p.His175Tyr)
c.112C>T (p.His38Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.169560617G>CCA343138354F5c.523C>G (p.His175Asp)
c.112C>G (p.His38Asp)
1g.169560617G=CA1206151774F5c.523C= (p.His175=)
c.112C= (p.His38=)
1g.169560617G>TCA343138356F5c.523C>A (p.His175Asn)
c.112C>A (p.His38Asn)
1g.169560618G>ACA421736482F5c.522C>T (p.Ser174=)
c.111C>T (p.Ser37=)
 ClinVar dbSNP
1g.169560618G>CCA1234593F5c.522C>G (p.Ser174=)
c.111C>G (p.Ser37=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169560618G=CA1206151775F5c.522C= (p.Ser174=)
c.111C= (p.Ser37=)
1g.169560618G>TCA421736483F5c.522C>A (p.Ser174=)
c.111C>A (p.Ser37=)
1g.169560619G>ACA343138360F5c.521C>T (p.Ser174Phe)
c.110C>T (p.Ser37Phe)
 gnomAD v4
1g.169560619G>CCA343138361F5c.521C>G (p.Ser174Cys)
c.110C>G (p.Ser37Cys)
1g.169560619G>TCA343138362F5c.521C>A (p.Ser174Tyr)
c.110C>A (p.Ser37Tyr)
1g.169560620A>CCA343138366F5c.520T>G (p.Ser174Ala)
c.109T>G (p.Ser37Ala)
1g.169560620A>GCA343138365F5c.520T>C (p.Ser174Pro)
c.109T>C (p.Ser37Pro)
1g.169560620A>TCA343138364F5c.520T>A (p.Ser174Thr)
c.109T>A (p.Ser37Thr)
1g.169560621G>ACA421736489F5c.519C>T (p.Tyr173=)
c.108C>T (p.Tyr36=)
 gnomAD v4
1g.169560621G>CCA1234594F5c.519C>G (p.Tyr173Ter)
c.108C>G (p.Tyr36Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169560621G=CA1149059248F5c.519C= (p.Tyr173=)
c.108C= (p.Tyr36=)
1g.169560621G>TCA343138370F5c.519C>A (p.Tyr173Ter)
c.108C>A (p.Tyr36Ter)
1g.169560622T>ACA343138379F5c.518A>T (p.Tyr173Phe)
c.107A>T (p.Tyr36Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.169560622T>CCA343138390F5c.518A>G (p.Tyr173Cys)
c.107A>G (p.Tyr36Cys)
1g.169560622T>GCA343138395F5c.518A>C (p.Tyr173Ser)
c.107A>C (p.Tyr36Ser)
1g.169560622T=CA1206151776F5c.518A= (p.Tyr173=)
c.107A= (p.Tyr36=)
1g.169560623A>CCA343138399F5c.517T>G (p.Tyr173Asp)
c.106T>G (p.Tyr36Asp)
1g.169560623A>GCA343138401F5c.517T>C (p.Tyr173His)
c.106T>C (p.Tyr36His)
1g.169560623A>TCA343138404F5c.517T>A (p.Tyr173Asn)
c.106T>A (p.Tyr36Asn)
1g.169560624A=CA1206151777F5c.516T= (p.Tyr172=)
c.105T= (p.Tyr35=)
1g.169560624A>CCA343138406F5c.516T>G (p.Tyr172Ter)
c.105T>G (p.Tyr35Ter)
1g.169560624A>GCA421736505F5c.516T>C (p.Tyr172=)
c.105T>C (p.Tyr35=)
 dbSNP gnomAD v2 gnomAD v4
1g.169560624A>TCA343138407F5c.516T>A (p.Tyr172Ter)
c.105T>A (p.Tyr35Ter)
1g.169560625T>ACA343138411F5c.515A>T (p.Tyr172Phe)
c.104A>T (p.Tyr35Phe)
1g.169560625T>CCA343138413F5c.515A>G (p.Tyr172Cys)
c.104A>G (p.Tyr35Cys)
1g.169560625T>GCA343138416F5c.515A>C (p.Tyr172Ser)
c.104A>C (p.Tyr35Ser)
1g.169560626A>CCA343138419F5c.514T>G (p.Tyr172Asp)
c.103T>G (p.Tyr35Asp)
1g.169560626A>GCA343138421F5c.514T>C (p.Tyr172His)
c.103T>C (p.Tyr35His)
1g.169560626A>TCA343138425F5c.514T>A (p.Tyr172Asn)
c.103T>A (p.Tyr35Asn)
1g.169560627G>ACA421736528F5c.513C>T (p.Ile171=)
c.102C>T (p.Ile34=)
1g.169560627G>CCA343138427F5c.513C>G (p.Ile171Met)
c.102C>G (p.Ile34Met)
1g.169560627G>TCA421736522F5c.513C>A (p.Ile171=)
c.102C>A (p.Ile34=)
1g.169560628A>CCA343138433F5c.512T>G (p.Ile171Ser)
c.101T>G (p.Ile34Ser)
1g.169560628A>GCA343138434F5c.512T>C (p.Ile171Thr)
c.101T>C (p.Ile34Thr)
 gnomAD v4
1g.169560628A>TCA343138437F5c.512T>A (p.Ile171Asn)
c.101T>A (p.Ile34Asn)
1g.169560629T>ACA343138444F5c.511A>T (p.Ile171Phe)
c.100A>T (p.Ile34Phe)
1g.169560629T>CCA32396263F5c.511A>G (p.Ile171Val)
c.100A>G (p.Ile34Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169560629T>GCA343138446F5c.511A>C (p.Ile171Leu)
c.100A>C (p.Ile34Leu)
1g.169560629T=CA1206151778F5c.511A= (p.Ile171=)
c.100A= (p.Ile34=)
1g.169560630G>ACA1234595F5c.510C>T (p.His170=)
c.99C>T (p.His33=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560630G>CCA343138452F5c.510C>G (p.His170Gln)
c.99C>G (p.His33Gln)
1g.169560630G=CA1144075042F5c.510C= (p.His170=)
c.99C= (p.His33=)
1g.169560630G>TCA343138455F5c.510C>A (p.His170Gln)
c.99C>A (p.His33Gln)
 gnomAD v4
1g.169560631T>ACA343138459F5c.509A>T (p.His170Leu)
c.98A>T (p.His33Leu)
1g.169560631T>CCA343138461F5c.509A>G (p.His170Arg)
c.98A>G (p.His33Arg)
1g.169560631T>GCA343138463F5c.509A>C (p.His170Pro)
c.98A>C (p.His33Pro)
1g.169560632G>ACA343138468F5c.508C>T (p.His170Tyr)
c.97C>T (p.His33Tyr)
 gnomAD v4
1g.169560632G>CCA343138467F5c.508C>G (p.His170Asp)
c.97C>G (p.His33Asp)
1g.169560632G>TCA343138465F5c.508C>A (p.His170Asn)
c.97C>A (p.His33Asn)
1g.169560633T>ACA421736546F5c.507A>T (p.Thr169=)
c.96A>T (p.Thr32=)
1g.169560633T>CCA421736549F5c.507A>G (p.Thr169=)
c.96A>G (p.Thr32=)
1g.169560633T>GCA421736553F5c.507A>C (p.Thr169=)
c.96A>C (p.Thr32=)
1g.169560634G>ACA32396299F5c.506C>T (p.Thr169Ile)
c.95C>T (p.Thr32Ile)
 dbSNP gnomAD v4 COSMIC
1g.169560634G>CCA343138474F5c.506C>G (p.Thr169Arg)
c.95C>G (p.Thr32Arg)
1g.169560634G=CA1206151779F5c.506C= (p.Thr169=)
c.95C= (p.Thr32=)
1g.169560634G>TCA343138479F5c.506C>A (p.Thr169Lys)
c.95C>A (p.Thr32Lys)
1g.169560635T>ACA343138482F5c.505A>T (p.Thr169Ser)
c.94A>T (p.Thr32Ser)
1g.169560635T>CCA343138483F5c.505A>G (p.Thr169Ala)
c.94A>G (p.Thr32Ala)
1g.169560635T>GCA343138486F5c.505A>C (p.Thr169Pro)
c.94A>C (p.Thr32Pro)
1g.169560636G>ACA1234597F5c.504C>T (p.Leu168=)
c.93C>T (p.Leu31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169560636G>CCA421736561F5c.504C>G (p.Leu168=)
c.93C>G (p.Leu31=)
1g.169560636G=CA1206151780F5c.504C= (p.Leu168=)
c.93C= (p.Leu31=)
1g.169560636G>TCA1234596F5c.504C>A (p.Leu168=)
c.93C>A (p.Leu31=)
 dbSNP ExAC
1g.169560637A>CCA343138517F5c.503T>G (p.Leu168Arg)
c.92T>G (p.Leu31Arg)
1g.169560637A>GCA343138520F5c.503T>C (p.Leu168Pro)
c.92T>C (p.Leu31Pro)
1g.169560637A>TCA343138522F5c.503T>A (p.Leu168His)
c.92T>A (p.Leu31His)
1g.169560638G>ACA343138524F5c.502C>T (p.Leu168Phe)
c.91C>T (p.Leu31Phe)
 dbSNP
1g.169560638G>CCA343138526F5c.502C>G (p.Leu168Val)
c.91C>G (p.Leu31Val)
 gnomAD v4
1g.169560638G>TCA343138528F5c.502C>A (p.Leu168Ile)
c.91C>A (p.Leu31Ile)
1g.169560639G>ACA421736577F5c.501C>T (p.Cys167=)
c.90C>T (p.Cys30=)
 gnomAD v4
1g.169560639G>CCA343138529F5c.501C>G (p.Cys167Trp)
c.90C>G (p.Cys30Trp)
1g.169560639G>TCA343138530F5c.501C>A (p.Cys167Ter)
c.90C>A (p.Cys30Ter)
1g.169560639_169560640insACAGTGGACCCACCCATGATGACCCTCCATGCCTCACACA2830534912F5c.500_501insTGTGAGGCATGGAGGGTCATCATGGGTGGGTCCACTGT (p.Leu168ValfsTer24)
c.89_90insTGTGAGGCATGGAGGGTCATCATGGGTGGGTCCACTGT (p.Leu31ValfsTer24)
1g.169560639_169560640insACAGTGGACCCACCCATGATGACCCTCCATGCCTCACACACA2830534914F5c.500_501insTGTGTGAGGCATGGAGGGTCATCATGGGTGGGTCCACTGT (p.Leu168ValfsTer2)
c.89_90insTGTGTGAGGCATGGAGGGTCATCATGGGTGGGTCCACTGT (p.Leu31ValfsTer2)
1g.169560640C>ACA343138531F5c.500G>T (p.Cys167Phe)
c.89G>T (p.Cys30Phe)
1g.169560640C>GCA343138534F5c.500G>C (p.Cys167Ser)
c.89G>C (p.Cys30Ser)
1g.169560640C>TCA343138535F5c.500G>A (p.Cys167Tyr)
c.89G>A (p.Cys30Tyr)
1g.169560641A>CCA343138537F5c.499T>G (p.Cys167Gly)
c.88T>G (p.Cys30Gly)
1g.169560641A>GCA343138541F5c.499T>C (p.Cys167Arg)
c.88T>C (p.Cys30Arg)
1g.169560641A>TCA343138547F5c.499T>A (p.Cys167Ser)
c.88T>A (p.Cys30Ser)
1g.169560642T>ACA1234598F5c.498A>T (p.Pro166=)
c.87A>T (p.Pro29=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169560642T>CCA32396323F5c.498A>G (p.Pro166=)
c.87A>G (p.Pro29=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169560642T>GCA421736590F5c.498A>C (p.Pro166=)
c.87A>C (p.Pro29=)
1g.169560642T=CA1141323911F5c.498A= (p.Pro166=)
c.87A= (p.Pro29=)
1g.169560643G>ACA343138558F5c.497C>T (p.Pro166Leu)
c.86C>T (p.Pro29Leu)
 COSMIC
1g.169560643G>CCA343138561F5c.497C>G (p.Pro166Arg)
c.86C>G (p.Pro29Arg)
1g.169560643G>TCA343138567F5c.497C>A (p.Pro166Gln)
c.86C>A (p.Pro29Gln)
1g.169560644G>ACA32396325F5c.496C>T (p.Pro166Ser)
c.85C>T (p.Pro29Ser)
 dbSNP
1g.169560644G>CCA343138571F5c.496C>G (p.Pro166Ala)
c.85C>G (p.Pro29Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.169560644G=CA1206151782F5c.496C= (p.Pro166=)
c.85C= (p.Pro29=)
1g.169560644G>TCA343138569F5c.496C>A (p.Pro166Thr)
c.85C>A (p.Pro29Thr)
1g.169560644_169560645delinsGACA1206151781F5c.495_496delinsTC (p.Pro165=)
c.84_85delinsTC (p.Pro28=)
1g.169560645delCA1234599F5c.495del (p.Pro166HisfsTer13)
c.84del (p.Pro29HisfsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560645A>CCA421736602F5c.495T>G (p.Pro165=)
c.84T>G (p.Pro28=)
1g.169560645A>GCA421736604F5c.495T>C (p.Pro165=)
c.84T>C (p.Pro28=)
1g.169560645A>TCA421736605F5c.495T>A (p.Pro165=)
c.84T>A (p.Pro28=)
1g.169560646G>ACA343138580F5c.494C>T (p.Pro165Leu)
c.83C>T (p.Pro28Leu)
1g.169560646G>CCA343138578F5c.494C>G (p.Pro165Arg)
c.83C>G (p.Pro28Arg)
1g.169560646G=CA1206151783F5c.494C= (p.Pro165=)
c.83C= (p.Pro28=)
1g.169560646G>TCA343138583F5c.494C>A (p.Pro165His)
c.83C>A (p.Pro28His)
 dbSNP gnomAD v2 gnomAD v4
1g.169560647G>ACA343138586F5c.493C>T (p.Pro165Ser)
c.82C>T (p.Pro28Ser)
1g.169560647G>CCA343138591F5c.493C>G (p.Pro165Ala)
c.82C>G (p.Pro28Ala)
1g.169560647G>TCA343138588F5c.493C>A (p.Pro165Thr)
c.82C>A (p.Pro28Thr)
1g.169560648G>ACA421736621F5c.492C>T (p.Asp164=)
c.81C>T (p.Asp27=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169560648G>CCA343138594F5c.492C>G (p.Asp164Glu)
c.81C>G (p.Asp27Glu)
1g.169560648G=CA1206151784F5c.492C= (p.Asp164=)
c.81C= (p.Asp27=)
1g.169560648G>TCA343138598F5c.492C>A (p.Asp164Glu)
c.81C>A (p.Asp27Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.169560649T>ACA343138600F5c.491A>T (p.Asp164Val)
c.80A>T (p.Asp27Val)
1g.169560649T>CCA343138601F5c.491A>G (p.Asp164Gly)
c.80A>G (p.Asp27Gly)
1g.169560649T>GCA343138603F5c.491A>C (p.Asp164Ala)
c.80A>C (p.Asp27Ala)
1g.169560650C>ACA343138606F5c.490G>T (p.Asp164Tyr)
c.79G>T (p.Asp27Tyr)
 dbSNP
1g.169560650C=CA1206151785F5c.490G= (p.Asp164=)
c.79G= (p.Asp27=)
1g.169560650C>GCA343138608F5c.490G>C (p.Asp164His)
c.79G>C (p.Asp27His)
1g.169560650C>TCA343138611F5c.490G>A (p.Asp164Asn)
c.79G>A (p.Asp27Asn)
1g.169560651A=CA1206151786F5c.489T= (p.Asp163=)
c.78T= (p.Asp26=)
1g.169560651A>CCA343138614F5c.489T>G (p.Asp163Glu)
c.78T>G (p.Asp26Glu)
1g.169560651A>GCA421736630F5c.489T>C (p.Asp163=)
c.78T>C (p.Asp26=)
1g.169560651A>TCA343138616F5c.489T>A (p.Asp163Glu)
c.78T>A (p.Asp26Glu)
 dbSNP
1g.169560652T>ACA343138620F5c.488A>T (p.Asp163Val)
c.77A>T (p.Asp26Val)
1g.169560652T>CCA343138621F5c.488A>G (p.Asp163Gly)
c.77A>G (p.Asp26Gly)
 gnomAD v4
1g.169560652T>GCA343138624F5c.488A>C (p.Asp163Ala)
c.77A>C (p.Asp26Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.169560652T=CA1206151787F5c.488A= (p.Asp163=)
c.77A= (p.Asp26=)
1g.169560653C>ACA343138636F5c.487G>T (p.Asp163Tyr)
c.76G>T (p.Asp26Tyr)
 gnomAD v4
1g.169560653C=CA1206151788F5c.487G= (p.Asp163=)
c.76G= (p.Asp26=)
1g.169560653C>GCA343138632F5c.487G>C (p.Asp163His)
c.76G>C (p.Asp26His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.169560653C>TCA343138633F5c.487G>A (p.Asp163Asn)
c.76G>A (p.Asp26Asn)
1g.169560654A>CCA343138638F5c.486T>G (p.His162Gln)
c.75T>G (p.His25Gln)
1g.169560654A>GCA421736639F5c.486T>C (p.His162=)
c.75T>C (p.His25=)
 gnomAD v4
1g.169560654A>TCA343138641F5c.486T>A (p.His162Gln)
c.75T>A (p.His25Gln)
1g.169560655T>ACA343138645F5c.485A>T (p.His162Leu)
c.74A>T (p.His25Leu)
1g.169560655T>CCA32396327F5c.485A>G (p.His162Arg)
c.74A>G (p.His25Arg)
 dbSNP gnomAD v4
1g.169560655T>GCA343138650F5c.485A>C (p.His162Pro)
c.74A>C (p.His25Pro)
1g.169560655T=CA1206151789F5c.485A= (p.His162=)
c.74A= (p.His25=)
1g.169560657_169560669delCA2649036221F5c.473_485del (p.Ser158MetfsTer17)
c.62_74del (p.Ser21MetfsTer17)
 gnomAD v4
1g.169560656G>ACA343138653F5c.484C>T (p.His162Tyr)
c.73C>T (p.His25Tyr)
 gnomAD v4
1g.169560656G>CCA343138656F5c.484C>G (p.His162Asp)
c.73C>G (p.His25Asp)
 COSMIC
1g.169560656G>TCA343138659F5c.484C>A (p.His162Asn)
c.73C>A (p.His25Asn)
1g.169560658delCA2649036223F5c.484del (p.His162MetfsTer17)
c.73del (p.His25MetfsTer17)
 gnomAD v4
1g.169560657G>ACA421736649F5c.483C>T (p.Thr161=)
c.72C>T (p.Thr24=)
 dbSNP gnomAD v4
1g.169560657G>CCA1234600F5c.483C>G (p.Thr161=)
c.72C>G (p.Thr24=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169560657G=CA1206151790F5c.483C= (p.Thr161=)
c.72C= (p.Thr24=)
1g.169560657G>TCA421736653F5c.483C>A (p.Thr161=)
c.72C>A (p.Thr24=)
1g.169560658G>ACA343138666F5c.482C>T (p.Thr161Ile)
c.71C>T (p.Thr24Ile)
1g.169560658G>CCA343138667F5c.482C>G (p.Thr161Ser)
c.71C>G (p.Thr24Ser)
1g.169560658G>TCA343138670F5c.482C>A (p.Thr161Asn)
c.71C>A (p.Thr24Asn)
1g.169560659T>ACA343138674F5c.481A>T (p.Thr161Ser)
c.70A>T (p.Thr24Ser)
1g.169560659T>CCA343138683F5c.481A>G (p.Thr161Ala)
c.70A>G (p.Thr24Ala)
1g.169560659T>GCA343138676F5c.481A>C (p.Thr161Pro)
c.70A>C (p.Thr24Pro)
1g.169560660G>ACA421736662F5c.480C>T (p.Pro160=)
c.69C>T (p.Pro23=)
1g.169560660G>CCA421736668F5c.480C>G (p.Pro160=)
c.69C>G (p.Pro23=)
1g.169560660G>TCA421736669F5c.480C>A (p.Pro160=)
c.69C>A (p.Pro23=)
 dbSNP
1g.169560662dupCA2649036232F5c.480dup (p.Thr161HisfsTer3)
c.69dup (p.Thr24HisfsTer3)
 gnomAD v4
1g.169560661G>ACA343138689F5c.479C>T (p.Pro160Leu)
c.68C>T (p.Pro23Leu)
1g.169560661G>CCA343138690F5c.479C>G (p.Pro160Arg)
c.68C>G (p.Pro23Arg)
1g.169560661G>TCA343138691F5c.479C>A (p.Pro160His)
c.68C>A (p.Pro23His)
1g.169560662G>ACA343138692F5c.478C>T (p.Pro160Ser)
c.67C>T (p.Pro23Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.169560662G>CCA343138693F5c.478C>G (p.Pro160Ala)
c.67C>G (p.Pro23Ala)
1g.169560662G=CA1206151791F5c.478C= (p.Pro160=)
c.67C= (p.Pro23=)
1g.169560662G>TCA343138694F5c.478C>A (p.Pro160Thr)
c.67C>A (p.Pro23Thr)
1g.169560663T>ACA421736678F5c.477A>T (p.Gly159=)
c.66A>T (p.Gly22=)
1g.169560663T>CCA421736681F5c.477A>G (p.Gly159=)
c.66A>G (p.Gly22=)
 gnomAD v4
1g.169560663T>GCA421736682F5c.477A>C (p.Gly159=)
c.66A>C (p.Gly22=)
 gnomAD v4
1g.169560664C>ACA343138695F5c.476G>T (p.Gly159Val)
c.65G>T (p.Gly22Val)
1g.169560664C>GCA343138698F5c.476G>C (p.Gly159Ala)
c.65G>C (p.Gly22Ala)
1g.169560664C>TCA343138700F5c.476G>A (p.Gly159Glu)
c.65G>A (p.Gly22Glu)
1g.169560665C>ACA343138702F5c.475G>T (p.Gly159Ter)
c.64G>T (p.Gly22Ter)
1g.169560665C>GCA343138704F5c.475G>C (p.Gly159Arg)
c.64G>C (p.Gly22Arg)
1g.169560665C>TCA343138706F5c.475G>A (p.Gly159Arg)
c.64G>A (p.Gly22Arg)
 gnomAD v4
1g.169560666A=CA1148895269F5c.474T= (p.Ser158=)
c.63T= (p.Ser21=)
1g.169560666A>CCA343138715F5c.474T>G (p.Ser158Arg)
c.63T>G (p.Ser21Arg)
1g.169560666A>GCA1234601F5c.474T>C (p.Ser158=)
c.63T>C (p.Ser21=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560666A>TCA343138709F5c.474T>A (p.Ser158Arg)
c.63T>A (p.Ser21Arg)
1g.169560667C>ACA343138724F5c.473G>T (p.Ser158Ile)
c.62G>T (p.Ser21Ile)
1g.169560667C>GCA343138726F5c.473G>C (p.Ser158Thr)
c.62G>C (p.Ser21Thr)
1g.169560667C>TCA343138735F5c.473G>A (p.Ser158Asn)
c.62G>A (p.Ser21Asn)
 gnomAD v4
1g.169560668T>ACA343138737F5c.472A>T (p.Ser158Cys)
c.61A>T (p.Ser21Cys)
1g.169560668T>CCA343138740F5c.472A>G (p.Ser158Gly)
c.61A>G (p.Ser21Gly)
1g.169560668T>GCA343138743F5c.472A>C (p.Ser158Arg)
c.61A>C (p.Ser21Arg)
1g.169560668_169560683dupCA2573950203F5c.457_472dup (p.Ser158LysfsTer4)
c.46_61dup (p.Ser21LysfsTer4)
 gnomAD v4
1g.169560669G>ACA421736695F5c.471C>T (p.Asp157=)
c.60C>T (p.Asp20=)
1g.169560669G>CCA343138745F5c.471C>G (p.Asp157Glu)
c.60C>G (p.Asp20Glu)
1g.169560669G>TCA343138747F5c.471C>A (p.Asp157Glu)
c.60C>A (p.Asp20Glu)
1g.169560670T>ACA343138751F5c.470A>T (p.Asp157Val)
c.59A>T (p.Asp20Val)
1g.169560670T>CCA343138752F5c.470A>G (p.Asp157Gly)
c.59A>G (p.Asp20Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.169560670T>GCA343138753F5c.470A>C (p.Asp157Ala)
c.59A>C (p.Asp20Ala)
1g.169560670T=CA1206151792F5c.470A= (p.Asp157=)
c.59A= (p.Asp20=)
1g.169560671C>ACA343138755F5c.469G>T (p.Asp157Tyr)
c.58G>T (p.Asp20Tyr)
1g.169560671C>GCA343138756F5c.469G>C (p.Asp157His)
c.58G>C (p.Asp20His)
1g.169560671C>TCA343138754F5c.469G>A (p.Asp157Asn)
c.58G>A (p.Asp20Asn)
1g.169560672C>ACA343138760F5c.468G>T (p.Glu156Asp)
c.57G>T (p.Glu19Asp)
1g.169560672C>GCA343138757F5c.468G>C (p.Glu156Asp)
c.57G>C (p.Glu19Asp)
1g.169560672C>TCA421736716F5c.468G>A (p.Glu156=)
c.57G>A (p.Glu19=)
 gnomAD v4
1g.169560673T>ACA343138762F5c.467A>T (p.Glu156Val)
c.56A>T (p.Glu19Val)
1g.169560673T>CCA343138763F5c.467A>G (p.Glu156Gly)
c.56A>G (p.Glu19Gly)
1g.169560673T>GCA343138764F5c.467A>C (p.Glu156Ala)
c.56A>C (p.Glu19Ala)
1g.169560674C>ACA343138770F5c.466G>T (p.Glu156Ter)
c.55G>T (p.Glu19Ter)
1g.169560674C=CA1206151793F5c.466G= (p.Glu156=)
c.55G= (p.Glu19=)
1g.169560674C>GCA343138772F5c.466G>C (p.Glu156Gln)
c.55G>C (p.Glu19Gln)
1g.169560674C>TCA343138775F5c.466G>A (p.Glu156Lys)
c.55G>A (p.Glu19Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.169560675A=CA1206151794F5c.465T= (p.Ser155=)
c.54T= (p.Ser18=)
1g.169560675A>CCA343138776F5c.465T>G (p.Ser155Arg)
c.54T>G (p.Ser18Arg)
1g.169560675A>GCA421736726F5c.465T>C (p.Ser155=)
c.54T>C (p.Ser18=)
 dbSNP
1g.169560675A>TCA343138777F5c.465T>A (p.Ser155Arg)
c.54T>A (p.Ser18Arg)
1g.169560676C>ACA343138778F5c.464G>T (p.Ser155Ile)
c.53G>T (p.Ser18Ile)
 gnomAD v4
1g.169560676C=CA1206151795F5c.464G= (p.Ser155=)
c.53G= (p.Ser18=)
1g.169560676C>GCA343138779F5c.464G>C (p.Ser155Thr)
c.53G>C (p.Ser18Thr)
1g.169560676C>TCA343138780F5c.464G>A (p.Ser155Asn)
c.53G>A (p.Ser18Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169560677T>ACA343138783F5c.463A>T (p.Ser155Cys)
c.52A>T (p.Ser18Cys)
1g.169560677T>CCA343138781F5c.463A>G (p.Ser155Gly)
c.52A>G (p.Ser18Gly)
 COSMIC
1g.169560677T>GCA343138782F5c.463A>C (p.Ser155Arg)
c.52A>C (p.Ser18Arg)
1g.169560678G>ACA421736748F5c.462C>T (p.Ile154=)
c.51C>T (p.Ile17=)
1g.169560678G>CCA343138784F5c.462C>G (p.Ile154Met)
c.51C>G (p.Ile17Met)
1g.169560678G>TCA421736745F5c.462C>A (p.Ile154=)
c.51C>A (p.Ile17=)
1g.169560679A=CA1206151796F5c.461T= (p.Ile154=)
c.50T= (p.Ile17=)
1g.169560679A>CCA343138785F5c.461T>G (p.Ile154Ser)
c.50T>G (p.Ile17Ser)
1g.169560679A>GCA343138786F5c.461T>C (p.Ile154Thr)
c.50T>C (p.Ile17Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.169560679A>TCA343138787F5c.461T>A (p.Ile154Asn)
c.50T>A (p.Ile17Asn)
1g.169560680_169560681delCA645528101F5c.460_461del (p.Ile154GlnfsTer2)
c.49_50del (p.Ile17GlnfsTer2)
 COSMIC
1g.169560680T>ACA343138788F5c.460A>T (p.Ile154Phe)
c.49A>T (p.Ile17Phe)
1g.169560680T>CCA1234602F5c.460A>G (p.Ile154Val)
c.49A>G (p.Ile17Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560680T>GCA343138789F5c.460A>C (p.Ile154Leu)
c.49A>C (p.Ile17Leu)
1g.169560680T=CA1206151797F5c.460A= (p.Ile154=)
c.49A= (p.Ile17=)
1g.169560681A=CA1206151798F5c.459T= (p.Ser153=)
c.48T= (p.Ser16=)
1g.169560681A>CCA343138790F5c.459T>G (p.Ser153Arg)
c.48T>G (p.Ser16Arg)
1g.169560681A>GCA32396339F5c.459T>C (p.Ser153=)
c.48T>C (p.Ser16=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169560681A>TCA343138791F5c.459T>A (p.Ser153Arg)
c.48T>A (p.Ser16Arg)
1g.169560682C>ACA343138792F5c.458G>T (p.Ser153Ile)
c.47G>T (p.Ser16Ile)
1g.169560682C>GCA343138793F5c.458G>C (p.Ser153Thr)
c.47G>C (p.Ser16Thr)
1g.169560682C>TCA343138794F5c.458G>A (p.Ser153Asn)
c.47G>A (p.Ser16Asn)
 gnomAD v4
1g.169560683T>ACA343138796F5c.457A>T (p.Ser153Cys)
c.46A>T (p.Ser16Cys)
1g.169560683T>CCA343138797F5c.457A>G (p.Ser153Gly)
c.46A>G (p.Ser16Gly)
1g.169560683T>GCA343138795F5c.457A>C (p.Ser153Arg)
c.46A>C (p.Ser16Arg)
1g.169560684C>ACA343138798F5c.456G>T (p.Trp152Cys)
c.45G>T (p.Trp15Cys)
 gnomAD v4
1g.169560684C=CA1206151799F5c.456G= (p.Trp152=)
c.45G= (p.Trp15=)
1g.169560684C>GCA343138799F5c.456G>C (p.Trp152Cys)
c.45G>C (p.Trp15Cys)
1g.169560684C>TCA32396344F5c.456G>A (p.Trp152Ter)
c.45G>A (p.Trp15Ter)
 dbSNP gnomAD v4
1g.169560685C>ACA343138800F5c.455G>T (p.Trp152Leu)
c.44G>T (p.Trp15Leu)
1g.169560685C>GCA343138801F5c.455G>C (p.Trp152Ser)
c.44G>C (p.Trp15Ser)
1g.169560685C>TCA343138802F5c.455G>A (p.Trp152Ter)
c.44G>A (p.Trp15Ter)
1g.169560686A>CCA343138803F5c.454T>G (p.Trp152Gly)
c.43T>G (p.Trp15Gly)
1g.169560686A>GCA343138804F5c.454T>C (p.Trp152Arg)
c.43T>C (p.Trp15Arg)
1g.169560686A>TCA343138805F5c.454T>A (p.Trp152Arg)
c.43T>A (p.Trp15Arg)
1g.169560687T>ACA1234603F5c.453A>T (p.Glu151Asp)
c.42A>T (p.Glu14Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560687T>CCA421736783F5c.453A>G (p.Glu151=)
c.42A>G (p.Glu14=)
1g.169560687T>GCA343138806F5c.453A>C (p.Glu151Asp)
c.42A>C (p.Glu14Asp)
1g.169560687T=CA1143683693F5c.453A= (p.Glu151=)
c.42A= (p.Glu14=)
1g.169560688T>ACA343138807F5c.452A>T (p.Glu151Val)
c.41A>T (p.Glu14Val)
 COSMIC
1g.169560688T>CCA343138808F5c.452A>G (p.Glu151Gly)
c.41A>G (p.Glu14Gly)
1g.169560688T>GCA343138809F5c.452A>C (p.Glu151Ala)
c.41A>C (p.Glu14Ala)
1g.169560689C>ACA343138812F5c.451G>T (p.Glu151Ter)
c.40G>T (p.Glu14Ter)
1g.169560689C>GCA343138811F5c.451G>C (p.Glu151Gln)
c.40G>C (p.Glu14Gln)
1g.169560689C>TCA343138810F5c.451G>A (p.Glu151Lys)
c.40G>A (p.Glu14Lys)
1g.169560690A=CA1206140485F5c.450T= (p.Tyr150=)
c.39T= (p.Tyr13=)
1g.169560690A>CCA343138814F5c.450T>G (p.Tyr150Ter)
c.39T>G (p.Tyr13Ter)
1g.169560690A>GCA421736795F5c.450T>C (p.Tyr150=)
c.39T>C (p.Tyr13=)
 dbSNP gnomAD v4
1g.169560690A>TCA343138816F5c.450T>A (p.Tyr150Ter)
c.39T>A (p.Tyr13Ter)
1g.169560691T>ACA343138818F5c.449A>T (p.Tyr150Phe)
c.38A>T (p.Tyr13Phe)
1g.169560691T>CCA343138819F5c.449A>G (p.Tyr150Cys)
c.38A>G (p.Tyr13Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169560691T>GCA343138822F5c.449A>C (p.Tyr150Ser)
c.38A>C (p.Tyr13Ser)
1g.169560691T=CA1206140490F5c.449A= (p.Tyr150=)
c.38A= (p.Tyr13=)
1g.169560692A>CCA343138824F5c.448T>G (p.Tyr150Asp)
c.37T>G (p.Tyr13Asp)
1g.169560692A>GCA343138826F5c.448T>C (p.Tyr150His)
c.37T>C (p.Tyr13His)
1g.169560692A>TCA343138828F5c.448T>A (p.Tyr150Asn)
c.37T>A (p.Tyr13Asn)
1g.169560693G>ACA421736803F5c.447C>T (p.Thr149=)
c.36C>T (p.Thr12=)
 dbSNP
1g.169560693G>CCA421736804F5c.447C>G (p.Thr149=)
c.36C>G (p.Thr12=)
1g.169560693G=CA1206140495F5c.447C= (p.Thr149=)
c.36C= (p.Thr12=)
1g.169560693G>TCA421736806F5c.447C>A (p.Thr149=)
c.36C>A (p.Thr12=)
1g.169560694G>ACA1234604F5c.446C>T (p.Thr149Ile)
c.35C>T (p.Thr12Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.169560694G>CCA343138831F5c.446C>G (p.Thr149Ser)
c.35C>G (p.Thr12Ser)
1g.169560694G=CA1206140501F5c.446C= (p.Thr149=)
c.35C= (p.Thr12=)
1g.169560694G>TCA343138832F5c.446C>A (p.Thr149Asn)
c.35C>A (p.Thr12Asn)
 gnomAD v4
1g.169560695T>ACA343138834F5c.445A>T (p.Thr149Ser)
c.34A>T (p.Thr12Ser)
1g.169560695T>CCA343138836F5c.445A>G (p.Thr149Ala)
c.34A>G (p.Thr12Ala)
1g.169560695T>GCA343138838F5c.445A>C (p.Thr149Pro)
c.34A>C (p.Thr12Pro)
1g.169560696G>ACA421736814F5c.444C>T (p.Tyr148=)
c.33C>T (p.Tyr11=)
 ClinVar gnomAD v4
1g.169560696G>CCA343138841F5c.444C>G (p.Tyr148Ter)
c.33C>G (p.Tyr11Ter)
1g.169560696G>TCA343138843F5c.444C>A (p.Tyr148Ter)
c.33C>A (p.Tyr11Ter)
 gnomAD v4
1g.169560697T>ACA343138845F5c.443A>T (p.Tyr148Phe)
c.32A>T (p.Tyr11Phe)
1g.169560697T>CCA343138848F5c.443A>G (p.Tyr148Cys)
c.32A>G (p.Tyr11Cys)
 dbSNP gnomAD v4
1g.169560697T>GCA343138846F5c.443A>C (p.Tyr148Ser)
c.32A>C (p.Tyr11Ser)
1g.169560697T=CA1206140506F5c.443A= (p.Tyr148=)
c.32A= (p.Tyr11=)
1g.169560698A=CA1206140510F5c.442T= (p.Tyr148=)
c.31T= (p.Tyr11=)
1g.169560698A>CCA343138850F5c.442T>G (p.Tyr148Asp)
c.31T>G (p.Tyr11Asp)
1g.169560698A>GCA1234605F5c.442T>C (p.Tyr148His)
c.31T>C (p.Tyr11His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169560698A>TCA343138852F5c.442T>A (p.Tyr148Asn)
c.31T>A (p.Tyr11Asn)
1g.169560698_169560699insGCA1008983137F5c.441_442insC (p.Tyr148LeufsTer4)
c.30_31insC (p.Tyr11LeufsTer4)
 gnomAD v3 gnomAD v4
1g.169560699T>ACA343138855F5c.441A>T (p.Glu147Asp)
c.30A>T (p.Glu10Asp)
 gnomAD v3 gnomAD v4
1g.169560699T>CCA421736820F5c.441A>G (p.Glu147=)
c.30A>G (p.Glu10=)
1g.169560699T>GCA343138857F5c.441A>C (p.Glu147Asp)
c.30A>C (p.Glu10Asp)
1g.169560700T>ACA343138859F5c.440A>T (p.Glu147Val)
c.29A>T (p.Glu10Val)
1g.169560700T>CCA343138860F5c.440A>G (p.Glu147Gly)
c.29A>G (p.Glu10Gly)
1g.169560700T>GCA343138861F5c.440A>C (p.Glu147Ala)
c.29A>C (p.Glu10Ala)
1g.169560701C>ACA251548F5c.439G>T (p.Glu147Ter)
c.28G>T (p.Glu10Ter)
 ClinVar dbSNP gnomAD v4
1g.169560701C=CA1141580336F5c.439G= (p.Glu147=)
c.28G= (p.Glu10=)
1g.169560701C>GCA343138862F5c.439G>C (p.Glu147Gln)
c.28G>C (p.Glu10Gln)
1g.169560701C>TCA343138863F5c.439G>A (p.Glu147Lys)
c.28G>A (p.Glu10Lys)
 COSMIC

Number of alleles fetched