Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018350T>ACA420603295HJVc.1008A>T (p.Gly336=)
c.330A>T (p.Gly110=)
c.669A>T (p.Gly223=)
1g.146018350T>CCA420603293HJVc.1008A>G (p.Gly336=)
c.330A>G (p.Gly110=)
c.669A>G (p.Gly223=)
1g.146018350T>GCA420603291HJVc.1008A>C (p.Gly336=)
c.330A>C (p.Gly110=)
c.669A>C (p.Gly223=)
1g.146018350_146018351delinsTCCA1198820930HJVc.1007_1008delinsGA (p.Gly336=)
c.329_330delinsGA (p.Gly110=)
c.668_669delinsGA (p.Gly223=)
1g.146018351C>ACA342134635HJVc.1007G>T (p.Gly336Val)
c.329G>T (p.Gly110Val)
c.668G>T (p.Gly223Val)
 gnomAD v4
1g.146018351C>GCA342134637HJVc.1007G>C (p.Gly336Ala)
c.329G>C (p.Gly110Ala)
c.668G>C (p.Gly223Ala)
1g.146018351C>TCA342134639HJVc.1007G>A (p.Gly336Glu)
c.329G>A (p.Gly110Glu)
c.668G>A (p.Gly223Glu)
1g.146018354delCA888578969HJVc.1007del (p.Gly336GlufsTer3)
c.329del (p.Gly110GlufsTer3)
c.668del (p.Gly223GlufsTer3)
 dbSNP
1g.146018352C>ACA342134645HJVc.1006G>T (p.Gly336Ter)
c.328G>T (p.Gly110Ter)
c.667G>T (p.Gly223Ter)
 ClinVar dbSNP gnomAD v4
1g.146018352C=CA1198820931HJVc.1006G= (p.Gly336=)
c.328G= (p.Gly110=)
c.667G= (p.Gly223=)
1g.146018352C>GCA342134649HJVc.1006G>C (p.Gly336Arg)
c.328G>C (p.Gly110Arg)
c.667G>C (p.Gly223Arg)
1g.146018352C>TCA342134641HJVc.1006G>A (p.Gly336Arg)
c.328G>A (p.Gly110Arg)
c.667G>A (p.Gly223Arg)
 dbSNP gnomAD v4
1g.146018353C>ACA420603300HJVc.1005G>T (p.Arg335=)
c.327G>T (p.Arg109=)
c.666G>T (p.Arg222=)
1g.146018353C>GCA420603299HJVc.1005G>C (p.Arg335=)
c.327G>C (p.Arg109=)
c.666G>C (p.Arg222=)
1g.146018353C>TCA420603301HJVc.1005G>A (p.Arg335=)
c.327G>A (p.Arg109=)
c.666G>A (p.Arg222=)
 gnomAD v4
1g.146018354C>ACA29823450HJVc.1004G>T (p.Arg335Leu)
c.326G>T (p.Arg109Leu)
c.665G>T (p.Arg222Leu)
 dbSNP
1g.146018354C=CA1144171503HJVc.1004G= (p.Arg335=)
c.326G= (p.Arg109=)
c.665G= (p.Arg222=)
1g.146018354C>GCA29823453HJVc.1004G>C (p.Arg335Pro)
c.326G>C (p.Arg109Pro)
c.665G>C (p.Arg222Pro)
1g.146018354C>TCA1053945HJVc.1004G>A (p.Arg335Gln)
c.326G>A (p.Arg109Gln)
c.665G>A (p.Arg222Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018355G>ACA1053944HJVc.1003C>T (p.Arg335Trp)
c.325C>T (p.Arg109Trp)
c.664C>T (p.Arg222Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018355G>CCA342134659HJVc.1003C>G (p.Arg335Gly)
c.325C>G (p.Arg109Gly)
c.664C>G (p.Arg222Gly)
1g.146018355G=CA1198820932HJVc.1003C= (p.Arg335=)
c.325C= (p.Arg109=)
c.664C= (p.Arg222=)
1g.146018355G>TCA342134655HJVc.1003C>A (p.Arg335=)
c.325C>A (p.Arg109=)
c.664C>A (p.Arg222=)
1g.146018356A>CCA420603308HJVc.1002T>G (p.Arg334=)
c.324T>G (p.Arg108=)
c.663T>G (p.Arg221=)
1g.146018356A>GCA420603307HJVc.1002T>C (p.Arg334=)
c.324T>C (p.Arg108=)
c.663T>C (p.Arg221=)
1g.146018356A>TCA420603306HJVc.1002T>A (p.Arg334=)
c.324T>A (p.Arg108=)
c.663T>A (p.Arg221=)
1g.146018357C>ACA342134661HJVc.1001G>T (p.Arg334Leu)
c.323G>T (p.Arg108Leu)
c.662G>T (p.Arg221Leu)
 gnomAD v4
1g.146018357C=CA1198820933HJVc.1001G= (p.Arg334=)
c.323G= (p.Arg108=)
c.662G= (p.Arg221=)
1g.146018357C>GCA342134663HJVc.1001G>C (p.Arg334Pro)
c.323G>C (p.Arg108Pro)
c.662G>C (p.Arg221Pro)
1g.146018357C>TCA1053943HJVc.1001G>A (p.Arg334His)
c.323G>A (p.Arg108His)
c.662G>A (p.Arg221His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018358G>ACA342134666HJVc.1000C>T (p.Arg334Cys)
c.322C>T (p.Arg108Cys)
c.661C>T (p.Arg221Cys)
 dbSNP gnomAD v4 COSMIC
1g.146018358G>CCA342134671HJVc.1000C>G (p.Arg334Gly)
c.322C>G (p.Arg108Gly)
c.661C>G (p.Arg221Gly)
1g.146018358G=CA1198820934HJVc.1000C= (p.Arg334=)
c.322C= (p.Arg108=)
c.661C= (p.Arg221=)
1g.146018358G>TCA342134677HJVc.1000C>A (p.Arg334Ser)
c.322C>A (p.Arg108Ser)
c.661C>A (p.Arg221Ser)
 COSMIC
1g.146018359A>CCA342134680HJVc.999T>G (p.Asn333Lys)
c.321T>G (p.Asn107Lys)
c.660T>G (p.Asn220Lys)
1g.146018359A>GCA420603313HJVc.999T>C (p.Asn333=)
c.321T>C (p.Asn107=)
c.660T>C (p.Asn220=)
1g.146018359A>TCA342134694HJVc.999T>A (p.Asn333Lys)
c.321T>A (p.Asn107Lys)
c.660T>A (p.Asn220Lys)
 COSMIC
1g.146018360T>ACA29823460HJVc.998A>T (p.Asn333Ile)
c.320A>T (p.Asn107Ile)
c.659A>T (p.Asn220Ile)
1g.146018360T>CCA1053942HJVc.998A>G (p.Asn333Ser)
c.320A>G (p.Asn107Ser)
c.659A>G (p.Asn220Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018360T>GCA29823467HJVc.998A>C (p.Asn333Thr)
c.320A>C (p.Asn107Thr)
c.659A>C (p.Asn220Thr)
1g.146018360T=CA1198820935HJVc.998A= (p.Asn333=)
c.320A= (p.Asn107=)
c.659A= (p.Asn220=)
1g.146018361T>ACA342134726HJVc.997A>T (p.Asn333Tyr)
c.319A>T (p.Asn107Tyr)
c.658A>T (p.Asn220Tyr)
 ClinVar dbSNP
1g.146018361T>CCA342134722HJVc.997A>G (p.Asn333Asp)
c.319A>G (p.Asn107Asp)
c.658A>G (p.Asn220Asp)
1g.146018361T>GCA342134724HJVc.997A>C (p.Asn333His)
c.319A>C (p.Asn107His)
c.658A>C (p.Asn220His)
 gnomAD v4
1g.146018362G>ACA420603317HJVc.996C>T (p.Arg332=)
c.318C>T (p.Arg106=)
c.657C>T (p.Arg219=)
1g.146018362G>CCA420603315HJVc.996C>G (p.Arg332=)
c.318C>G (p.Arg106=)
c.657C>G (p.Arg219=)
1g.146018362G>TCA420603319HJVc.996C>A (p.Arg332=)
c.318C>A (p.Arg106=)
c.657C>A (p.Arg219=)
1g.146018363C>ACA29823472HJVc.995G>T (p.Arg332Leu)
c.317G>T (p.Arg106Leu)
c.656G>T (p.Arg219Leu)
 gnomAD v4
1g.146018363C=CA1198820936HJVc.995G= (p.Arg332=)
c.317G= (p.Arg106=)
c.656G= (p.Arg219=)
1g.146018363C>GCA29823488HJVc.995G>C (p.Arg332Pro)
c.317G>C (p.Arg106Pro)
c.656G>C (p.Arg219Pro)
1g.146018363C>TCA1053941HJVc.995G>A (p.Arg332His)
c.317G>A (p.Arg106His)
c.656G>A (p.Arg219His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018364G>ACA1053940HJVc.994C>T (p.Arg332Cys)
c.316C>T (p.Arg106Cys)
c.655C>T (p.Arg219Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018364G>CCA29823501HJVc.994C>G (p.Arg332Gly)
c.316C>G (p.Arg106Gly)
c.655C>G (p.Arg219Gly)
1g.146018364G=CA1198820937HJVc.994C= (p.Arg332=)
c.316C= (p.Arg106=)
c.655C= (p.Arg219=)
1g.146018364G>TCA29823507HJVc.994C>A (p.Arg332Ser)
c.316C>A (p.Arg106Ser)
c.655C>A (p.Arg219Ser)
 gnomAD v4
1g.146018365C>ACA29823512HJVc.993G>T (p.Glu331Asp)
c.315G>T (p.Glu105Asp)
c.654G>T (p.Glu218Asp)
1g.146018365C=CA1198820938HJVc.993G= (p.Glu331=)
c.315G= (p.Glu105=)
c.654G= (p.Glu218=)
1g.146018365C>GCA29823516HJVc.993G>C (p.Glu331Asp)
c.315G>C (p.Glu105Asp)
c.654G>C (p.Glu218Asp)
1g.146018365C>TCA1053939HJVc.993G>A (p.Glu331=)
c.315G>A (p.Glu105=)
c.654G>A (p.Glu218=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018366T>ACA342134747HJVc.992A>T (p.Glu331Val)
c.314A>T (p.Glu105Val)
c.653A>T (p.Glu218Val)
1g.146018366T>CCA29823519HJVc.992A>G (p.Glu331Gly)
c.314A>G (p.Glu105Gly)
c.653A>G (p.Glu218Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.146018366T>GCA342134758HJVc.992A>C (p.Glu331Ala)
c.314A>C (p.Glu105Ala)
c.653A>C (p.Glu218Ala)
1g.146018366T=CA1143518203HJVc.992A= (p.Glu331=)
c.314A= (p.Glu105=)
c.653A= (p.Glu218=)
1g.146018367C>ACA342134774HJVc.991G>T (p.Glu331Ter)
c.313G>T (p.Glu105Ter)
c.652G>T (p.Glu218Ter)
1g.146018367C=CA1142012801HJVc.991G= (p.Glu331=)
c.313G= (p.Glu105=)
c.652G= (p.Glu218=)
1g.146018367C>GCA1053938HJVc.991G>C (p.Glu331Gln)
c.313G>C (p.Glu105Gln)
c.652G>C (p.Glu218Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018367C>TCA342134766HJVc.991G>A (p.Glu331Lys)
c.313G>A (p.Glu105Lys)
c.652G>A (p.Glu218Lys)
1g.146018368T>ACA420603326HJVc.990A>T (p.Ser330=)
c.312A>T (p.Ser104=)
c.651A>T (p.Ser217=)
1g.146018368T>CCA420603327HJVc.990A>G (p.Ser330=)
c.312A>G (p.Ser104=)
c.651A>G (p.Ser217=)
1g.146018368T>GCA420603325HJVc.990A>C (p.Ser330=)
c.312A>C (p.Ser104=)
c.651A>C (p.Ser217=)
1g.146018369G>ACA342134781HJVc.989C>T (p.Ser330Leu)
c.311C>T (p.Ser104Leu)
c.650C>T (p.Ser217Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018369G>CCA342134784HJVc.989C>G (p.Ser330Ter)
c.311C>G (p.Ser104Ter)
c.650C>G (p.Ser217Ter)
 gnomAD v4
1g.146018369G=CA1198820939HJVc.989C= (p.Ser330=)
c.311C= (p.Ser104=)
c.650C= (p.Ser217=)
1g.146018369G>TCA342134792HJVc.989C>A (p.Ser330Ter)
c.311C>A (p.Ser104Ter)
c.650C>A (p.Ser217Ter)
1g.146018370A>CCA342134797HJVc.988T>G (p.Ser330Ala)
c.310T>G (p.Ser104Ala)
c.649T>G (p.Ser217Ala)
1g.146018370A>GCA342134803HJVc.988T>C (p.Ser330Pro)
c.310T>C (p.Ser104Pro)
c.649T>C (p.Ser217Pro)
1g.146018370A>TCA342134806HJVc.988T>A (p.Ser330Thr)
c.310T>A (p.Ser104Thr)
c.649T>A (p.Ser217Thr)
1g.146018371T>ACA420603332HJVc.987A>T (p.Arg329=)
c.309A>T (p.Arg103=)
c.648A>T (p.Arg216=)
1g.146018371T>CCA420603330HJVc.987A>G (p.Arg329=)
c.309A>G (p.Arg103=)
c.648A>G (p.Arg216=)
1g.146018371T>GCA420603333HJVc.987A>C (p.Arg329=)
c.309A>C (p.Arg103=)
c.648A>C (p.Arg216=)
1g.146018372C>ACA1053937HJVc.986G>T (p.Arg329Leu)
c.308G>T (p.Arg103Leu)
c.647G>T (p.Arg216Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018372C=CA1198820940HJVc.986G= (p.Arg329=)
c.308G= (p.Arg103=)
c.647G= (p.Arg216=)
1g.146018372C>GCA1053936HJVc.986G>C (p.Arg329Pro)
c.308G>C (p.Arg103Pro)
c.647G>C (p.Arg216Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018372C>TCA1053935HJVc.986G>A (p.Arg329Gln)
c.308G>A (p.Arg103Gln)
c.647G>A (p.Arg216Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018372_146018376delinsCGAGACA1198820941HJVc.982_986delinsTCTCG (p.Ser328=)
c.304_308delinsTCTCG (p.Ser102=)
c.643_647delinsTCTCG (p.Ser215=)
1g.146018373G>ACA1053934HJVc.985C>T (p.Arg329Ter)
c.307C>T (p.Arg103Ter)
c.646C>T (p.Arg216Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018373G>CCA29823552HJVc.985C>G (p.Arg329Gly)
c.307C>G (p.Arg103Gly)
c.646C>G (p.Arg216Gly)
1g.146018373G=CA1198820942HJVc.985C= (p.Arg329=)
c.307C= (p.Arg103=)
c.646C= (p.Arg216=)
1g.146018373G>TCA29823542HJVc.985C>A (p.Arg329=)
c.307C>A (p.Arg103=)
c.646C>A (p.Arg216=)
1g.146018378_146018379delCA2580611193HJVc.984_985del (p.Arg329IlefsTer12)
c.306_307del (p.Arg103IlefsTer12)
c.645_646del (p.Arg216IlefsTer12)
 ClinVar dbSNP
1g.146018376_146018379delCA252259HJVc.982_985del (p.Ser328AspfsTer10)
c.304_307del (p.Ser102AspfsTer10)
c.643_646del (p.Ser215AspfsTer10)
 ClinVar dbSNP
1g.146018374A>CCA420603338HJVc.984T>G (p.Ser328=)
c.306T>G (p.Ser102=)
c.645T>G (p.Ser215=)
1g.146018374A>GCA420603339HJVc.984T>C (p.Ser328=)
c.306T>C (p.Ser102=)
c.645T>C (p.Ser215=)
1g.146018374A>TCA420603340HJVc.984T>A (p.Ser328=)
c.306T>A (p.Ser102=)
c.645T>A (p.Ser215=)
1g.146018375G>ACA342134856HJVc.983C>T (p.Ser328Phe)
c.305C>T (p.Ser102Phe)
c.644C>T (p.Ser215Phe)
 gnomAD v3 gnomAD v4
1g.146018375G>CCA342134851HJVc.983C>G (p.Ser328Cys)
c.305C>G (p.Ser102Cys)
c.644C>G (p.Ser215Cys)
1g.146018375G>TCA342134847HJVc.983C>A (p.Ser328Tyr)
c.305C>A (p.Ser102Tyr)
c.644C>A (p.Ser215Tyr)
1g.146018376A=CA1198820943HJVc.982T= (p.Ser328=)
c.304T= (p.Ser102=)
c.643T= (p.Ser215=)
1g.146018376A>CCA342134858HJVc.982T>G (p.Ser328Ala)
c.304T>G (p.Ser102Ala)
c.643T>G (p.Ser215Ala)
1g.146018376A>GCA342134861HJVc.982T>C (p.Ser328Pro)
c.304T>C (p.Ser102Pro)
c.643T>C (p.Ser215Pro)
 gnomAD v4
1g.146018376A>TCA1053933HJVc.982T>A (p.Ser328Thr)
c.304T>A (p.Ser102Thr)
c.643T>A (p.Ser215Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018377G>ACA420603346HJVc.981C>T (p.Leu327=)
c.303C>T (p.Leu101=)
c.642C>T (p.Leu214=)
1g.146018377G>CCA1053932HJVc.981C>G (p.Leu327=)
c.303C>G (p.Leu101=)
c.642C>G (p.Leu214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018377G=CA1198820944HJVc.981C= (p.Leu327=)
c.303C= (p.Leu101=)
c.642C= (p.Leu214=)
1g.146018377G>TCA420603344HJVc.981C>A (p.Leu327=)
c.303C>A (p.Leu101=)
c.642C>A (p.Leu214=)
1g.146018378A=CA1198820945HJVc.980T= (p.Leu327=)
c.302T= (p.Leu101=)
c.641T= (p.Leu214=)
1g.146018378A>CCA29823557HJVc.980T>G (p.Leu327Arg)
c.302T>G (p.Leu101Arg)
c.641T>G (p.Leu214Arg)
1g.146018378A>GCA1053931HJVc.980T>C (p.Leu327Pro)
c.302T>C (p.Leu101Pro)
c.641T>C (p.Leu214Pro)
 dbSNP ExAC gnomAD v2
1g.146018378A>TCA29823562HJVc.980T>A (p.Leu327His)
c.302T>A (p.Leu101His)
c.641T>A (p.Leu214His)
1g.146018379G>ACA342134883HJVc.979C>T (p.Leu327Phe)
c.301C>T (p.Leu101Phe)
c.640C>T (p.Leu214Phe)
 gnomAD v4
1g.146018379G>CCA342134886HJVc.979C>G (p.Leu327Val)
c.301C>G (p.Leu101Val)
c.640C>G (p.Leu214Val)
1g.146018379G>TCA342134888HJVc.979C>A (p.Leu327Ile)
c.301C>A (p.Leu101Ile)
c.640C>A (p.Leu214Ile)
1g.146018379_146018380delCA2647575282HJVc.978_979del (p.Arg329IlefsTer12)
c.300_301del (p.Arg103IlefsTer12)
c.639_640del (p.Arg216IlefsTer12)
 gnomAD v4
1g.146018380delCA2647575285HJVc.978del (p.Leu327SerfsTer12)
c.300del (p.Leu101SerfsTer12)
c.639del (p.Leu214SerfsTer12)
 gnomAD v4
1g.146018380T>ACA420603353HJVc.978A>T (p.Arg326=)
c.300A>T (p.Arg100=)
c.639A>T (p.Arg213=)
1g.146018380T>CCA420603351HJVc.978A>G (p.Arg326=)
c.300A>G (p.Arg100=)
c.639A>G (p.Arg213=)
1g.146018380T>GCA420603350HJVc.978A>C (p.Arg326=)
c.300A>C (p.Arg100=)
c.639A>C (p.Arg213=)
1g.146018381C>ACA29823571HJVc.977G>T (p.Arg326Leu)
c.299G>T (p.Arg100Leu)
c.638G>T (p.Arg213Leu)
 gnomAD v4
1g.146018381C=CA1198820946HJVc.977G= (p.Arg326=)
c.299G= (p.Arg100=)
c.638G= (p.Arg213=)
1g.146018381C>GCA29823574HJVc.977G>C (p.Arg326Pro)
c.299G>C (p.Arg100Pro)
c.638G>C (p.Arg213Pro)
 gnomAD v4
1g.146018381C>TCA1053930HJVc.977G>A (p.Arg326Gln)
c.299G>A (p.Arg100Gln)
c.638G>A (p.Arg213Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018382G>ACA252250HJVc.976C>T (p.Arg326Ter)
c.298C>T (p.Arg100Ter)
c.637C>T (p.Arg213Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018382G>CCA342134906HJVc.976C>G (p.Arg326Gly)
c.298C>G (p.Arg100Gly)
c.637C>G (p.Arg213Gly)
1g.146018382G=CA1140886747HJVc.976C= (p.Arg326=)
c.298C= (p.Arg100=)
c.637C= (p.Arg213=)
1g.146018382G>TCA420603356HJVc.976C>A (p.Arg326=)
c.298C>A (p.Arg100=)
c.637C>A (p.Arg213=)
1g.146018383C>ACA342134913HJVc.975G>T (p.Gln325His)
c.297G>T (p.Gln99His)
c.636G>T (p.Gln212His)
 dbSNP
1g.146018383C>GCA342134929HJVc.975G>C (p.Gln325His)
c.297G>C (p.Gln99His)
c.636G>C (p.Gln212His)
 dbSNP gnomAD v4
1g.146018383C>TCA420603357HJVc.975G>A (p.Gln325=)
c.297G>A (p.Gln99=)
c.636G>A (p.Gln212=)
1g.146018384T>ACA342134937HJVc.974A>T (p.Gln325Leu)
c.296A>T (p.Gln99Leu)
c.635A>T (p.Gln212Leu)
1g.146018384T>CCA342134940HJVc.974A>G (p.Gln325Arg)
c.296A>G (p.Gln99Arg)
c.635A>G (p.Gln212Arg)
1g.146018384T>GCA342134944HJVc.974A>C (p.Gln325Pro)
c.296A>C (p.Gln99Pro)
c.635A>C (p.Gln212Pro)
1g.146018385G>ACA342134946HJVc.973C>T (p.Gln325Ter)
c.295C>T (p.Gln99Ter)
c.634C>T (p.Gln212Ter)
1g.146018385G>CCA342134947HJVc.973C>G (p.Gln325Glu)
c.295C>G (p.Gln99Glu)
c.634C>G (p.Gln212Glu)
1g.146018385G>TCA342134948HJVc.973C>A (p.Gln325Lys)
c.295C>A (p.Gln99Lys)
c.634C>A (p.Gln212Lys)
1g.146018386A>CCA342134949HJVc.972T>G (p.Ser324Arg)
c.294T>G (p.Ser98Arg)
c.633T>G (p.Ser211Arg)
1g.146018386A>GCA420603359HJVc.972T>C (p.Ser324=)
c.294T>C (p.Ser98=)
c.633T>C (p.Ser211=)
1g.146018386A>TCA342134951HJVc.972T>A (p.Ser324Arg)
c.294T>A (p.Ser98Arg)
c.633T>A (p.Ser211Arg)
1g.146018387C>ACA342134955HJVc.971G>T (p.Ser324Ile)
c.293G>T (p.Ser98Ile)
c.632G>T (p.Ser211Ile)
1g.146018387C>GCA342134958HJVc.971G>C (p.Ser324Thr)
c.293G>C (p.Ser98Thr)
c.632G>C (p.Ser211Thr)
1g.146018387C>TCA342134960HJVc.971G>A (p.Ser324Asn)
c.293G>A (p.Ser98Asn)
c.632G>A (p.Ser211Asn)
 gnomAD v4
1g.146018388T>ACA342134970HJVc.970A>T (p.Ser324Cys)
c.292A>T (p.Ser98Cys)
c.631A>T (p.Ser211Cys)
1g.146018388T>CCA342134967HJVc.970A>G (p.Ser324Gly)
c.292A>G (p.Ser98Gly)
c.631A>G (p.Ser211Gly)
1g.146018388T>GCA342134965HJVc.970A>C (p.Ser324Arg)
c.292A>C (p.Ser98Arg)
c.631A>C (p.Ser211Arg)
1g.146018389T>ACA420603365HJVc.969A>T (p.Pro323=)
c.291A>T (p.Pro97=)
c.630A>T (p.Pro210=)
1g.146018389T>CCA420603364HJVc.969A>G (p.Pro323=)
c.291A>G (p.Pro97=)
c.630A>G (p.Pro210=)
 gnomAD v4
1g.146018389T>GCA420603363HJVc.969A>C (p.Pro323=)
c.291A>C (p.Pro97=)
c.630A>C (p.Pro210=)
1g.146018390G>ACA342134973HJVc.968C>T (p.Pro323Leu)
c.290C>T (p.Pro97Leu)
c.629C>T (p.Pro210Leu)
 gnomAD v4
1g.146018390G>CCA342134979HJVc.968C>G (p.Pro323Arg)
c.290C>G (p.Pro97Arg)
c.629C>G (p.Pro210Arg)
 gnomAD v4
1g.146018390G=CA1198820947HJVc.968C= (p.Pro323=)
c.290C= (p.Pro97=)
c.629C= (p.Pro210=)
1g.146018390G>TCA342134987HJVc.968C>A (p.Pro323Gln)
c.290C>A (p.Pro97Gln)
c.629C>A (p.Pro210Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.146018391G>ACA342134990HJVc.967C>T (p.Pro323Ser)
c.289C>T (p.Pro97Ser)
c.628C>T (p.Pro210Ser)
1g.146018391G>CCA342135000HJVc.967C>G (p.Pro323Ala)
c.289C>G (p.Pro97Ala)
c.628C>G (p.Pro210Ala)
1g.146018391G>TCA342135005HJVc.967C>A (p.Pro323Thr)
c.289C>A (p.Pro97Thr)
c.628C>A (p.Pro210Thr)
1g.146018392A>CCA420603369HJVc.966T>G (p.Pro322=)
c.288T>G (p.Pro96=)
c.627T>G (p.Pro209=)
1g.146018392A>GCA420603368HJVc.966T>C (p.Pro322=)
c.288T>C (p.Pro96=)
c.627T>C (p.Pro209=)
1g.146018392A>TCA420603367HJVc.966T>A (p.Pro322=)
c.288T>A (p.Pro96=)
c.627T>A (p.Pro209=)
1g.146018393G>ACA342135014HJVc.965C>T (p.Pro322Leu)
c.287C>T (p.Pro96Leu)
c.626C>T (p.Pro209Leu)
 COSMIC
1g.146018393G>CCA342135018HJVc.965C>G (p.Pro322Arg)
c.287C>G (p.Pro96Arg)
c.626C>G (p.Pro209Arg)
1g.146018393G>TCA342135020HJVc.965C>A (p.Pro322His)
c.287C>A (p.Pro96His)
c.626C>A (p.Pro209His)
1g.146018395delCA2574047893HJVc.965del (p.Pro322LeufsTer17)
c.287del (p.Pro96LeufsTer17)
c.626del (p.Pro209LeufsTer17)
1g.146018394G>ACA342135025HJVc.964C>T (p.Pro322Ser)
c.286C>T (p.Pro96Ser)
c.625C>T (p.Pro209Ser)
1g.146018394G>CCA342135031HJVc.964C>G (p.Pro322Ala)
c.286C>G (p.Pro96Ala)
c.625C>G (p.Pro209Ala)
1g.146018394G=CA1198820948HJVc.964C= (p.Pro322=)
c.286C= (p.Pro96=)
c.625C= (p.Pro209=)
1g.146018394G>TCA342135033HJVc.964C>A (p.Pro322Thr)
c.286C>A (p.Pro96Thr)
c.625C>A (p.Pro209Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018395G>ACA420603374HJVc.963C>T (p.Cys321=)
c.285C>T (p.Cys95=)
c.624C>T (p.Cys208=)
1g.146018395G>CCA1053929HJVc.963C>G (p.Cys321Trp)
c.285C>G (p.Cys95Trp)
c.624C>G (p.Cys208Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018395G=CA1141581027HJVc.963C= (p.Cys321=)
c.285C= (p.Cys95=)
c.624C= (p.Cys208=)
1g.146018395G>TCA252257HJVc.963C>A (p.Cys321Ter)
c.285C>A (p.Cys95Ter)
c.624C>A (p.Cys208Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018395_146018396delinsTTCA2586967192HJVc.962_963delinsAA (p.Cys321Ter)
c.284_285delinsAA (p.Cys95Ter)
c.623_624delinsAA (p.Cys208Ter)
 ClinVar
1g.146018396C>ACA29823605HJVc.962G>T (p.Cys321Phe)
c.284G>T (p.Cys95Phe)
c.623G>T (p.Cys208Phe)
1g.146018396C=CA1198820949HJVc.962G= (p.Cys321=)
c.284G= (p.Cys95=)
c.623G= (p.Cys208=)
1g.146018396C>GCA29823613HJVc.962G>C (p.Cys321Ser)
c.284G>C (p.Cys95Ser)
c.623G>C (p.Cys208Ser)
1g.146018396C>TCA1053928HJVc.962G>A (p.Cys321Tyr)
c.284G>A (p.Cys95Tyr)
c.623G>A (p.Cys208Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018397A>CCA342135083HJVc.961T>G (p.Cys321Gly)
c.283T>G (p.Cys95Gly)
c.622T>G (p.Cys208Gly)
1g.146018397A>GCA342135087HJVc.961T>C (p.Cys321Arg)
c.283T>C (p.Cys95Arg)
c.622T>C (p.Cys208Arg)
1g.146018397A>TCA342135090HJVc.961T>A (p.Cys321Ser)
c.283T>A (p.Cys95Ser)
c.622T>A (p.Cys208Ser)
1g.146018397_146018398delinsACCA1198820950HJVc.960_961delinsGT (p.Gly320=)
c.282_283delinsGT (p.Gly94=)
c.621_622delinsGT (p.Gly207=)
1g.146018398C>ACA1053927HJVc.960G>T (p.Gly320=)
c.282G>T (p.Gly94=)
c.621G>T (p.Gly207=)
 ClinVar dbSNP ExAC gnomAD v4
1g.146018398C=CA1198820951HJVc.960G= (p.Gly320=)
c.282G= (p.Gly94=)
c.621G= (p.Gly207=)
1g.146018398C>GCA29823624HJVc.960G>C (p.Gly320=)
c.282G>C (p.Gly94=)
c.621G>C (p.Gly207=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018398C>TCA29823629HJVc.960G>A (p.Gly320=)
c.282G>A (p.Gly94=)
c.621G>A (p.Gly207=)
 ClinVar dbSNP gnomAD v4
1g.146018403dupCA1053924HJVc.960dup (p.Cys321ValfsTer21)
c.282dup (p.Cys95ValfsTer21)
c.621dup (p.Cys208ValfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018403delCA526253952HJVc.960del (p.Cys321AlafsTer18)
c.282del (p.Cys95AlafsTer18)
c.621del (p.Cys208AlafsTer18)
 dbSNP gnomAD v2 gnomAD v4
1g.146018399C>ACA252249HJVc.959G>T (p.Gly320Val)
c.281G>T (p.Gly94Val)
c.620G>T (p.Gly207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018399C=CA1140886749HJVc.959G= (p.Gly320=)
c.281G= (p.Gly94=)
c.620G= (p.Gly207=)
1g.146018399C>GCA342135108HJVc.959G>C (p.Gly320Ala)
c.281G>C (p.Gly94Ala)
c.620G>C (p.Gly207Ala)
 gnomAD v4
1g.146018399C>TCA342135102HJVc.959G>A (p.Gly320Glu)
c.281G>A (p.Gly94Glu)
c.620G>A (p.Gly207Glu)
 gnomAD v4
1g.146018399_146018400insACA2745933938HJVc.958_959insT (p.Gly320ValfsTer22)
c.280_281insT (p.Gly94ValfsTer22)
c.619_620insT (p.Gly207ValfsTer22)
1g.146018400C>ACA1053926HJVc.958G>T (p.Gly320Trp)
c.280G>T (p.Gly94Trp)
c.619G>T (p.Gly207Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018400C=CA1198820952HJVc.958G= (p.Gly320=)
c.280G= (p.Gly94=)
c.619G= (p.Gly207=)
1g.146018400C>GCA29823639HJVc.958G>C (p.Gly320Arg)
c.280G>C (p.Gly94Arg)
c.619G>C (p.Gly207Arg)
1g.146018400C>TCA29823642HJVc.958G>A (p.Gly320Arg)
c.280G>A (p.Gly94Arg)
c.619G>A (p.Gly207Arg)
 gnomAD v4
1g.146018401C>ACA420603383HJVc.957G>T (p.Gly319=)
c.279G>T (p.Gly93=)
c.618G>T (p.Gly206=)
1g.146018401C>GCA420603384HJVc.957G>C (p.Gly319=)
c.279G>C (p.Gly93=)
c.618G>C (p.Gly206=)
1g.146018401C>TCA420603382HJVc.957G>A (p.Gly319=)
c.279G>A (p.Gly93=)
c.618G>A (p.Gly206=)
1g.146018402_146018403insACCCCAAACACACCCA2745933939HJVc.957_958insTGTGTTTGGGGTGG (p.Gly320CysfsTer24)
c.279_280insTGTGTTTGGGGTGG (p.Gly94CysfsTer24)
c.618_619insTGTGTTTGGGGTGG (p.Gly207CysfsTer24)
1g.146018402C>ACA342135136HJVc.956G>T (p.Gly319Val)
c.278G>T (p.Gly93Val)
c.617G>T (p.Gly206Val)
1g.146018402C=CA1141668450HJVc.956G= (p.Gly319=)
c.278G= (p.Gly93=)
c.617G= (p.Gly206=)
1g.146018402C>GCA1053925HJVc.956G>C (p.Gly319Ala)
c.278G>C (p.Gly93Ala)
c.617G>C (p.Gly206Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018402C>TCA342135140HJVc.956G>A (p.Gly319Glu)
c.278G>A (p.Gly93Glu)
c.617G>A (p.Gly206Glu)
 COSMIC
1g.146018402_146018403insGCA342135141HJVc.955_956insC (p.Gly319AlafsTer23)
c.277_278insC (p.Gly93AlafsTer23)
c.616_617insC (p.Gly206AlafsTer23)
1g.146018403C>ACA342135149HJVc.955G>T (p.Gly319Trp)
c.277G>T (p.Gly93Trp)
c.616G>T (p.Gly206Trp)
1g.146018403C=CA1198820953HJVc.955G= (p.Gly319=)
c.277G= (p.Gly93=)
c.616G= (p.Gly206=)
1g.146018403C>GCA342135148HJVc.955G>C (p.Gly319Arg)
c.277G>C (p.Gly93Arg)
c.616G>C (p.Gly206Arg)
1g.146018403C>TCA342135143HJVc.955G>A (p.Gly319Arg)
c.277G>A (p.Gly93Arg)
c.616G>A (p.Gly206Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.146018403_146018404insGCA29823652HJVc.954_955insC (p.Gly319ArgfsTer23)
c.276_277insC (p.Gly93ArgfsTer23)
c.615_616insC (p.Gly206ArgfsTer23)
1g.146018404A=CA1198820954HJVc.954T= (p.Val318=)
c.276T= (p.Val92=)
c.615T= (p.Val205=)
1g.146018404A>CCA420603389HJVc.954T>G (p.Val318=)
c.276T>G (p.Val92=)
c.615T>G (p.Val205=)
1g.146018404A>GCA420603388HJVc.954T>C (p.Val318=)
c.276T>C (p.Val92=)
c.615T>C (p.Val205=)
 gnomAD v4
1g.146018404A>TCA420603390HJVc.954T>A (p.Val318=)
c.276T>A (p.Val92=)
c.615T>A (p.Val205=)
 dbSNP gnomAD v4
1g.146018405A=CA1198820955HJVc.953T= (p.Val318=)
c.275T= (p.Val92=)
c.614T= (p.Val205=)
1g.146018405A>CCA342135167HJVc.953T>G (p.Val318Gly)
c.275T>G (p.Val92Gly)
c.614T>G (p.Val205Gly)
1g.146018405A>GCA342135173HJVc.953T>C (p.Val318Ala)
c.275T>C (p.Val92Ala)
c.614T>C (p.Val205Ala)
 dbSNP gnomAD v4
1g.146018405A>TCA342135180HJVc.953T>A (p.Val318Asp)
c.275T>A (p.Val92Asp)
c.614T>A (p.Val205Asp)
1g.146018406C>ACA342135184HJVc.952G>T (p.Val318Phe)
c.274G>T (p.Val92Phe)
c.613G>T (p.Val205Phe)
1g.146018406C>GCA342135188HJVc.952G>C (p.Val318Leu)
c.274G>C (p.Val92Leu)
c.613G>C (p.Val205Leu)
1g.146018406C>TCA342135191HJVc.952G>A (p.Val318Ile)
c.274G>A (p.Val92Ile)
c.613G>A (p.Val205Ile)
 gnomAD v4
1g.146018407A>CCA342135197HJVc.951T>G (p.Cys317Trp)
c.273T>G (p.Cys91Trp)
c.612T>G (p.Cys204Trp)
1g.146018407A>GCA420603395HJVc.951T>C (p.Cys317=)
c.273T>C (p.Cys91=)
c.612T>C (p.Cys204=)
1g.146018407A>TCA342135215HJVc.951T>A (p.Cys317Ter)
c.273T>A (p.Cys91Ter)
c.612T>A (p.Cys204Ter)
1g.146018408C>ACA342135227HJVc.950G>T (p.Cys317Phe)
c.272G>T (p.Cys91Phe)
c.611G>T (p.Cys204Phe)
1g.146018408C=CA1198820956HJVc.950G= (p.Cys317=)
c.272G= (p.Cys91=)
c.611G= (p.Cys204=)
1g.146018408C>GCA342135226HJVc.950G>C (p.Cys317Ser)
c.272G>C (p.Cys91Ser)
c.611G>C (p.Cys204Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018408C>TCA342135224HJVc.950G>A (p.Cys317Tyr)
c.272G>A (p.Cys91Tyr)
c.611G>A (p.Cys204Tyr)
 ClinVar dbSNP
1g.146018409A>CCA342135229HJVc.949T>G (p.Cys317Gly)
c.271T>G (p.Cys91Gly)
c.610T>G (p.Cys204Gly)
1g.146018409A>GCA342135245HJVc.949T>C (p.Cys317Arg)
c.271T>C (p.Cys91Arg)
c.610T>C (p.Cys204Arg)
1g.146018409A>TCA342135244HJVc.949T>A (p.Cys317Ser)
c.271T>A (p.Cys91Ser)
c.610T>A (p.Cys204Ser)
1g.146018410G>ACA420603400HJVc.948C>T (p.Leu316=)
c.270C>T (p.Leu90=)
c.609C>T (p.Leu203=)
1g.146018410G>CCA420603401HJVc.948C>G (p.Leu316=)
c.270C>G (p.Leu90=)
c.609C>G (p.Leu203=)
1g.146018410G>TCA420603399HJVc.948C>A (p.Leu316=)
c.270C>A (p.Leu90=)
c.609C>A (p.Leu203=)
1g.146018411A>CCA342135246HJVc.947T>G (p.Leu316Arg)
c.269T>G (p.Leu90Arg)
c.608T>G (p.Leu203Arg)
1g.146018411A>GCA342135248HJVc.947T>C (p.Leu316Pro)
c.269T>C (p.Leu90Pro)
c.608T>C (p.Leu203Pro)
1g.146018411A>TCA342135247HJVc.947T>A (p.Leu316His)
c.269T>A (p.Leu90His)
c.608T>A (p.Leu203His)
1g.146018412G>ACA342135252HJVc.946C>T (p.Leu316Phe)
c.268C>T (p.Leu90Phe)
c.607C>T (p.Leu203Phe)
1g.146018412G>CCA342135255HJVc.946C>G (p.Leu316Val)
c.268C>G (p.Leu90Val)
c.607C>G (p.Leu203Val)
1g.146018412G>TCA342135257HJVc.946C>A (p.Leu316Ile)
c.268C>A (p.Leu90Ile)
c.607C>A (p.Leu203Ile)
1g.146018413C>ACA342135258HJVc.945G>T (p.Gln315His)
c.267G>T (p.Gln89His)
c.606G>T (p.Gln202His)
1g.146018413C=CA1198820957HJVc.945G= (p.Gln315=)
c.267G= (p.Gln89=)
c.606G= (p.Gln202=)
1g.146018413C>GCA342135259HJVc.945G>C (p.Gln315His)
c.267G>C (p.Gln89His)
c.606G>C (p.Gln202His)
1g.146018413C>TCA420603404HJVc.945G>A (p.Gln315=)
c.267G>A (p.Gln89=)
c.606G>A (p.Gln202=)
 dbSNP
1g.146018414T>ACA342135260HJVc.944A>T (p.Gln315Leu)
c.266A>T (p.Gln89Leu)
c.605A>T (p.Gln202Leu)
1g.146018414T>CCA342135261HJVc.944A>G (p.Gln315Arg)
c.266A>G (p.Gln89Arg)
c.605A>G (p.Gln202Arg)
1g.146018414T>GCA342135263HJVc.944A>C (p.Gln315Pro)
c.266A>C (p.Gln89Pro)
c.605A>C (p.Gln202Pro)
1g.146018415G>ACA342135296HJVc.943C>T (p.Gln315Ter)
c.265C>T (p.Gln89Ter)
c.604C>T (p.Gln202Ter)
1g.146018415G>CCA342135300HJVc.943C>G (p.Gln315Glu)
c.265C>G (p.Gln89Glu)
c.604C>G (p.Gln202Glu)
1g.146018415G>TCA342135315HJVc.943C>A (p.Gln315Lys)
c.265C>A (p.Gln89Lys)
c.604C>A (p.Gln202Lys)
1g.146018416C>ACA420603412HJVc.942G>T (p.Leu314=)
c.264G>T (p.Leu88=)
c.603G>T (p.Leu201=)
1g.146018416C>GCA420603411HJVc.942G>C (p.Leu314=)
c.264G>C (p.Leu88=)
c.603G>C (p.Leu201=)
1g.146018416C>TCA420603410HJVc.942G>A (p.Leu314=)
c.264G>A (p.Leu88=)
c.603G>A (p.Leu201=)
 ClinVar dbSNP
1g.146018417A>CCA342135341HJVc.941T>G (p.Leu314Arg)
c.263T>G (p.Leu88Arg)
c.602T>G (p.Leu201Arg)
1g.146018417A>GCA342135328HJVc.941T>C (p.Leu314Pro)
c.263T>C (p.Leu88Pro)
c.602T>C (p.Leu201Pro)
1g.146018417A>TCA342135338HJVc.941T>A (p.Leu314Gln)
c.263T>A (p.Leu88Gln)
c.602T>A (p.Leu201Gln)
1g.146018418G>ACA420603416HJVc.940C>T (p.Leu314=)
c.262C>T (p.Leu88=)
c.601C>T (p.Leu201=)
 ClinVar dbSNP
1g.146018418G>CCA342135347HJVc.940C>G (p.Leu314Val)
c.262C>G (p.Leu88Val)
c.601C>G (p.Leu201Val)
1g.146018418G=CA1198820958HJVc.940C= (p.Leu314=)
c.262C= (p.Leu88=)
c.601C= (p.Leu201=)
1g.146018418G>TCA342135357HJVc.940C>A (p.Leu314Met)
c.262C>A (p.Leu88Met)
c.601C>A (p.Leu201Met)
1g.146018419G>ACA420603421HJVc.939C>T (p.Asp313=)
c.261C>T (p.Asp87=)
c.600C>T (p.Asp200=)
1g.146018419G>CCA342135371HJVc.939C>G (p.Asp313Glu)
c.261C>G (p.Asp87Glu)
c.600C>G (p.Asp200Glu)
1g.146018419G>TCA342135372HJVc.939C>A (p.Asp313Glu)
c.261C>A (p.Asp87Glu)
c.600C>A (p.Asp200Glu)
 gnomAD v4
1g.146018420T>ACA342135373HJVc.938A>T (p.Asp313Val)
c.260A>T (p.Asp87Val)
c.599A>T (p.Asp200Val)
1g.146018420T>CCA342135374HJVc.938A>G (p.Asp313Gly)
c.260A>G (p.Asp87Gly)
c.599A>G (p.Asp200Gly)
1g.146018420T>GCA342135375HJVc.938A>C (p.Asp313Ala)
c.260A>C (p.Asp87Ala)
c.599A>C (p.Asp200Ala)
 dbSNP
1g.146018420T=CA1198820959HJVc.938A= (p.Asp313=)
c.260A= (p.Asp87=)
c.599A= (p.Asp200=)
1g.146018421C>ACA29823658HJVc.937G>T (p.Asp313Tyr)
c.259G>T (p.Asp87Tyr)
c.598G>T (p.Asp200Tyr)
1g.146018421C=CA1198820960HJVc.937G= (p.Asp313=)
c.259G= (p.Asp87=)
c.598G= (p.Asp200=)
1g.146018421C>GCA29823662HJVc.937G>C (p.Asp313His)
c.259G>C (p.Asp87His)
c.598G>C (p.Asp200His)
1g.146018421C>TCA1053923HJVc.937G>A (p.Asp313Asn)
c.259G>A (p.Asp87Asn)
c.598G>A (p.Asp200Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018422C>ACA342135390HJVc.936G>T (p.Gln312His)
c.258G>T (p.Gln86His)
c.597G>T (p.Gln199His)
1g.146018422C=CA1198820961HJVc.936G= (p.Gln312=)
c.258G= (p.Gln86=)
c.597G= (p.Gln199=)
1g.146018422C>GCA342135388HJVc.936G>C (p.Gln312His)
c.258G>C (p.Gln86His)
c.597G>C (p.Gln199His)
1g.146018422C>TCA420603424HJVc.936G>A (p.Gln312=)
c.258G>A (p.Gln86=)
c.597G>A (p.Gln199=)
 dbSNP
1g.146018423T>ACA342135392HJVc.935A>T (p.Gln312Leu)
c.257A>T (p.Gln86Leu)
c.596A>T (p.Gln199Leu)
1g.146018423T>CCA342135395HJVc.935A>G (p.Gln312Arg)
c.257A>G (p.Gln86Arg)
c.596A>G (p.Gln199Arg)
1g.146018423T>GCA342135400HJVc.935A>C (p.Gln312Pro)
c.257A>C (p.Gln86Pro)
c.596A>C (p.Gln199Pro)
1g.146018424G>ACA342135407HJVc.934C>T (p.Gln312Ter)
c.256C>T (p.Gln86Ter)
c.595C>T (p.Gln199Ter)
 ClinVar dbSNP gnomAD v4
1g.146018424G>CCA342135411HJVc.934C>G (p.Gln312Glu)
c.256C>G (p.Gln86Glu)
c.595C>G (p.Gln199Glu)
1g.146018424G=CA1198820962HJVc.934C= (p.Gln312=)
c.256C= (p.Gln86=)
c.595C= (p.Gln199=)
1g.146018424G>TCA342135421HJVc.934C>A (p.Gln312Lys)
c.256C>A (p.Gln86Lys)
c.595C>A (p.Gln199Lys)
1g.146018425T>ACA342135432HJVc.933A>T (p.Glu311Asp)
c.255A>T (p.Glu85Asp)
c.594A>T (p.Glu198Asp)
1g.146018425T>CCA420603428HJVc.933A>G (p.Glu311=)
c.255A>G (p.Glu85=)
c.594A>G (p.Glu198=)
 gnomAD v4
1g.146018425T>GCA342135423HJVc.933A>C (p.Glu311Asp)
c.255A>C (p.Glu85Asp)
c.594A>C (p.Glu198Asp)
1g.146018426T>ACA342135436HJVc.932A>T (p.Glu311Val)
c.254A>T (p.Glu85Val)
c.593A>T (p.Glu198Val)
1g.146018426T>CCA342135438HJVc.932A>G (p.Glu311Gly)
c.254A>G (p.Glu85Gly)
c.593A>G (p.Glu198Gly)
1g.146018426T>GCA342135442HJVc.932A>C (p.Glu311Ala)
c.254A>C (p.Glu85Ala)
c.593A>C (p.Glu198Ala)
1g.146018427C>ACA342135443HJVc.931G>T (p.Glu311Ter)
c.253G>T (p.Glu85Ter)
c.592G>T (p.Glu198Ter)
 gnomAD v4
1g.146018427C>GCA342135444HJVc.931G>C (p.Glu311Gln)
c.253G>C (p.Glu85Gln)
c.592G>C (p.Glu198Gln)
1g.146018427C>TCA342135445HJVc.931G>A (p.Glu311Lys)
c.253G>A (p.Glu85Lys)
c.592G>A (p.Glu198Lys)
1g.146018428A>CCA420603434HJVc.930T>G (p.Ala310=)
c.252T>G (p.Ala84=)
c.591T>G (p.Ala197=)
1g.146018428A>GCA420603435HJVc.930T>C (p.Ala310=)
c.252T>C (p.Ala84=)
c.591T>C (p.Ala197=)
1g.146018428A>TCA420603433HJVc.930T>A (p.Ala310=)
c.252T>A (p.Ala84=)
c.591T>A (p.Ala197=)
1g.146018429G>ACA342135447HJVc.929C>T (p.Ala310Val)
c.251C>T (p.Ala84Val)
c.590C>T (p.Ala197Val)
1g.146018429G>CCA1053922HJVc.929C>G (p.Ala310Gly)
c.251C>G (p.Ala84Gly)
c.590C>G (p.Ala197Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018429G=CA1140148041HJVc.929C= (p.Ala310=)
c.251C= (p.Ala84=)
c.590C= (p.Ala197=)
1g.146018429G>TCA342135448HJVc.929C>A (p.Ala310Asp)
c.251C>A (p.Ala84Asp)
c.590C>A (p.Ala197Asp)
 gnomAD v4
1g.146018430C>ACA342135449HJVc.928G>T (p.Ala310Ser)
c.250G>T (p.Ala84Ser)
c.589G>T (p.Ala197Ser)
1g.146018430C>GCA342135450HJVc.928G>C (p.Ala310Pro)
c.250G>C (p.Ala84Pro)
c.589G>C (p.Ala197Pro)
1g.146018430C>TCA342135453HJVc.928G>A (p.Ala310Thr)
c.250G>A (p.Ala84Thr)
c.589G>A (p.Ala197Thr)
 gnomAD v4
1g.146018431T>ACA420603441HJVc.927A>T (p.Ser309=)
c.249A>T (p.Ser83=)
c.588A>T (p.Ser196=)
1g.146018431T>CCA420603440HJVc.927A>G (p.Ser309=)
c.249A>G (p.Ser83=)
c.588A>G (p.Ser196=)
 dbSNP
1g.146018431T>GCA420603439HJVc.927A>C (p.Ser309=)
c.249A>C (p.Ser83=)
c.588A>C (p.Ser196=)
 dbSNP
1g.146018432G>ACA342135471HJVc.926C>T (p.Ser309Leu)
c.248C>T (p.Ser83Leu)
c.587C>T (p.Ser196Leu)
1g.146018432G>CCA342135472HJVc.926C>G (p.Ser309Ter)
c.248C>G (p.Ser83Ter)
c.587C>G (p.Ser196Ter)
 gnomAD v4
1g.146018432G>TCA342135479HJVc.926C>A (p.Ser309Ter)
c.248C>A (p.Ser83Ter)
c.587C>A (p.Ser196Ter)
 COSMIC
1g.146018433A=CA1198820963HJVc.925T= (p.Ser309=)
c.247T= (p.Ser83=)
c.586T= (p.Ser196=)
1g.146018433A>CCA342135485HJVc.925T>G (p.Ser309Ala)
c.247T>G (p.Ser83Ala)
c.586T>G (p.Ser196Ala)
 gnomAD v4
1g.146018433A>GCA342135494HJVc.925T>C (p.Ser309Pro)
c.247T>C (p.Ser83Pro)
c.586T>C (p.Ser196Pro)
1g.146018433A>TCA342135499HJVc.925T>A (p.Ser309Thr)
c.247T>A (p.Ser83Thr)
c.586T>A (p.Ser196Thr)
 dbSNP
1g.146018434G>ACA420603444HJVc.924C>T (p.Phe308=)
c.246C>T (p.Phe82=)
c.585C>T (p.Phe195=)
1g.146018434G>CCA342135500HJVc.924C>G (p.Phe308Leu)
c.246C>G (p.Phe82Leu)
c.585C>G (p.Phe195Leu)
1g.146018434G>TCA342135501HJVc.924C>A (p.Phe308Leu)
c.246C>A (p.Phe82Leu)
c.585C>A (p.Phe195Leu)
1g.146018435A>CCA342135509HJVc.923T>G (p.Phe308Cys)
c.245T>G (p.Phe82Cys)
c.584T>G (p.Phe195Cys)
1g.146018435A>GCA342135513HJVc.923T>C (p.Phe308Ser)
c.245T>C (p.Phe82Ser)
c.584T>C (p.Phe195Ser)
1g.146018435A>TCA342135503HJVc.923T>A (p.Phe308Tyr)
c.245T>A (p.Phe82Tyr)
c.584T>A (p.Phe195Tyr)
1g.146018436A>CCA342135518HJVc.922T>G (p.Phe308Val)
c.244T>G (p.Phe82Val)
c.583T>G (p.Phe195Val)
1g.146018436A>GCA342135528HJVc.922T>C (p.Phe308Leu)
c.244T>C (p.Phe82Leu)
c.583T>C (p.Phe195Leu)
1g.146018436A>TCA342135532HJVc.922T>A (p.Phe308Ile)
c.244T>A (p.Phe82Ile)
c.583T>A (p.Phe195Ile)
1g.146018436_146018442delinsAGGCCATCA1198820964HJVc.916_922delinsATGGCCT (p.Met306=)
c.238_244delinsATGGCCT (p.Met80=)
c.577_583delinsATGGCCT (p.Met193=)
1g.146018437G>ACA29823676HJVc.921C>T (p.Ala307=)
c.243C>T (p.Ala81=)
c.582C>T (p.Ala194=)
 dbSNP
1g.146018437G>CCA420603450HJVc.921C>G (p.Ala307=)
c.243C>G (p.Ala81=)
c.582C>G (p.Ala194=)
1g.146018437G=CA1198820965HJVc.921C= (p.Ala307=)
c.243C= (p.Ala81=)
c.582C= (p.Ala194=)
1g.146018437G>TCA420603452HJVc.921C>A (p.Ala307=)
c.243C>A (p.Ala81=)
c.582C>A (p.Ala194=)
 gnomAD v4
1g.146018442_146018447delCA888579244HJVc.916_921del (p.Met306_Ala307del)
c.238_243del (p.Met80_Ala81del)
c.577_582del (p.Met193_Ala194del)
 dbSNP gnomAD v3 gnomAD v4
1g.146018438G>ACA342135545HJVc.920C>T (p.Ala307Val)
c.242C>T (p.Ala81Val)
c.581C>T (p.Ala194Val)
1g.146018438G>CCA342135546HJVc.920C>G (p.Ala307Gly)
c.242C>G (p.Ala81Gly)
c.581C>G (p.Ala194Gly)
1g.146018438G>TCA342135551HJVc.920C>A (p.Ala307Asp)
c.242C>A (p.Ala81Asp)
c.581C>A (p.Ala194Asp)
1g.146018439C>ACA342135555HJVc.919G>T (p.Ala307Ser)
c.241G>T (p.Ala81Ser)
c.580G>T (p.Ala194Ser)
1g.146018439C>GCA342135557HJVc.919G>C (p.Ala307Pro)
c.241G>C (p.Ala81Pro)
c.580G>C (p.Ala194Pro)
1g.146018439C>TCA342135561HJVc.919G>A (p.Ala307Thr)
c.241G>A (p.Ala81Thr)
c.580G>A (p.Ala194Thr)
 gnomAD v4
1g.146018440delCA2573131054HJVc.919del (p.Ala307ProfsTer?)
c.241del (p.Ala81ProfsTer?)
c.580del (p.Ala194ProfsTer?)
 ClinVar dbSNP
1g.146018440C>ACA29823692HJVc.918G>T (p.Met306Ile)
c.240G>T (p.Met80Ile)
c.579G>T (p.Met193Ile)
1g.146018440C=CA1198820966HJVc.918G= (p.Met306=)
c.240G= (p.Met80=)
c.579G= (p.Met193=)
1g.146018440C>GCA29823700HJVc.918G>C (p.Met306Ile)
c.240G>C (p.Met80Ile)
c.579G>C (p.Met193Ile)
1g.146018440C>TCA1053921HJVc.918G>A (p.Met306Ile)
c.240G>A (p.Met80Ile)
c.579G>A (p.Met193Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018441A>CCA342135582HJVc.917T>G (p.Met306Arg)
c.239T>G (p.Met80Arg)
c.578T>G (p.Met193Arg)
1g.146018441A>GCA342135580HJVc.917T>C (p.Met306Thr)
c.239T>C (p.Met80Thr)
c.578T>C (p.Met193Thr)
 gnomAD v4
1g.146018441A>TCA342135578HJVc.917T>A (p.Met306Lys)
c.239T>A (p.Met80Lys)
c.578T>A (p.Met193Lys)
1g.146018442T>ACA342135584HJVc.916A>T (p.Met306Leu)
c.238A>T (p.Met80Leu)
c.577A>T (p.Met193Leu)
1g.146018442T>CCA342135587HJVc.916A>G (p.Met306Val)
c.238A>G (p.Met80Val)
c.577A>G (p.Met193Val)
1g.146018442T>GCA342135590HJVc.916A>C (p.Met306Leu)
c.238A>C (p.Met80Leu)
c.577A>C (p.Met193Leu)
1g.146018442T=CA1198820967HJVc.916A= (p.Met306=)
c.238A= (p.Met80=)
c.577A= (p.Met193=)
1g.146018443G>ACA1053920HJVc.915C>T (p.Ala305=)
c.237C>T (p.Ala79=)
c.576C>T (p.Ala192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018443G>CCA29823706HJVc.915C>G (p.Ala305=)
c.237C>G (p.Ala79=)
c.576C>G (p.Ala192=)
1g.146018443G=CA1143759530HJVc.915C= (p.Ala305=)
c.237C= (p.Ala79=)
c.576C= (p.Ala192=)
1g.146018443G>TCA29823722HJVc.915C>A (p.Ala305=)
c.237C>A (p.Ala79=)
c.576C>A (p.Ala192=)
1g.146018443_146018448dupCA526253969HJVc.910_915dup (p.Ala305_Met306insValAla)
c.232_237dup (p.Ala79_Met80insValAla)
c.571_576dup (p.Ala192_Met193insValAla)
 dbSNP gnomAD v2 gnomAD v4
1g.146018444G>ACA342135591HJVc.914C>T (p.Ala305Val)
c.236C>T (p.Ala79Val)
c.575C>T (p.Ala192Val)
 gnomAD v4 COSMIC
1g.146018444G>CCA342135603HJVc.914C>G (p.Ala305Gly)
c.236C>G (p.Ala79Gly)
c.575C>G (p.Ala192Gly)
1g.146018444G>TCA342135607HJVc.914C>A (p.Ala305Asp)
c.236C>A (p.Ala79Asp)
c.575C>A (p.Ala192Asp)
1g.146018445C>ACA342135611HJVc.913G>T (p.Ala305Ser)
c.235G>T (p.Ala79Ser)
c.574G>T (p.Ala192Ser)
 gnomAD v4
1g.146018445C=CA1198820968HJVc.913G= (p.Ala305=)
c.235G= (p.Ala79=)
c.574G= (p.Ala192=)
1g.146018445C>GCA342135617HJVc.913G>C (p.Ala305Pro)
c.235G>C (p.Ala79Pro)
c.574G>C (p.Ala192Pro)
1g.146018445C>TCA342135627HJVc.913G>A (p.Ala305Thr)
c.235G>A (p.Ala79Thr)
c.574G>A (p.Ala192Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018446C>ACA420603467HJVc.912G>T (p.Val304=)
c.234G>T (p.Val78=)
c.573G>T (p.Val191=)
 gnomAD v4
1g.146018446C>GCA420603465HJVc.912G>C (p.Val304=)
c.234G>C (p.Val78=)
c.573G>C (p.Val191=)
1g.146018446C>TCA420603464HJVc.912G>A (p.Val304=)
c.234G>A (p.Val78=)
c.573G>A (p.Val191=)
1g.146018447A>CCA342135636HJVc.911T>G (p.Val304Gly)
c.233T>G (p.Val78Gly)
c.572T>G (p.Val191Gly)
1g.146018447A>GCA342135654HJVc.911T>C (p.Val304Ala)
c.233T>C (p.Val78Ala)
c.572T>C (p.Val191Ala)
1g.146018447A>TCA342135655HJVc.911T>A (p.Val304Glu)
c.233T>A (p.Val78Glu)
c.572T>A (p.Val191Glu)
1g.146018448C>ACA342135657HJVc.910G>T (p.Val304Leu)
c.232G>T (p.Val78Leu)
c.571G>T (p.Val191Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018448C=CA1198820969HJVc.910G= (p.Val304=)
c.232G= (p.Val78=)
c.571G= (p.Val191=)
1g.146018448C>GCA342135662HJVc.910G>C (p.Val304Leu)
c.232G>C (p.Val78Leu)
c.571G>C (p.Val191Leu)
1g.146018448C>TCA342135656HJVc.910G>A (p.Val304Met)
c.232G>A (p.Val78Met)
c.571G>A (p.Val191Met)
1g.146018449A>CCA342135685HJVc.909T>G (p.Asp303Glu)
c.231T>G (p.Asp77Glu)
c.570T>G (p.Asp190Glu)
1g.146018449A>GCA420603470HJVc.909T>C (p.Asp303=)
c.231T>C (p.Asp77=)
c.570T>C (p.Asp190=)
1g.146018449A>TCA342135690HJVc.909T>A (p.Asp303Glu)
c.231T>A (p.Asp77Glu)
c.570T>A (p.Asp190Glu)
1g.146018450T>ACA342135701HJVc.908A>T (p.Asp303Val)
c.230A>T (p.Asp77Val)
c.569A>T (p.Asp190Val)
1g.146018450T>CCA342135720HJVc.908A>G (p.Asp303Gly)
c.230A>G (p.Asp77Gly)
c.569A>G (p.Asp190Gly)
1g.146018450T>GCA342135721HJVc.908A>C (p.Asp303Ala)
c.230A>C (p.Asp77Ala)
c.569A>C (p.Asp190Ala)

Number of alleles fetched