Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99891634_99891636delCA658821116AGLc.2978_2980del (p.Phe993del)
n.3189_3191del
c.2930_2932del (p.Phe977del)
c.2927_2929del (p.Phe976del)
c.1238_1240del (p.Phe413del)
 ClinVar dbSNP
1g.99891631_99891637delinsTCTTCTACA1183933368AGLc.2975_2981delinsTCTTCTA (p.Phe992=)
n.3186_3192delinsTCTTCTA
c.2927_2933delinsTCTTCTA (p.Phe976=)
c.2924_2930delinsTCTTCTA (p.Phe975=)
c.1235_1241delinsTCTTCTA (p.Phe412=)
1g.99891633_99891638delCA16617220AGLc.2977_2982del (p.Phe993_Tyr994del)
n.3188_3193del
c.2929_2934del (p.Phe977_Tyr978del)
c.2926_2931del (p.Phe976_Tyr977del)
c.1237_1242del (p.Phe413_Tyr414del)
 ClinVar dbSNP
1g.99891633T>ACA341325733AGLc.2977T>A (p.Phe993Ile)
n.3188T>A
c.2929T>A (p.Phe977Ile)
c.2926T>A (p.Phe976Ile)
c.1237T>A (p.Phe413Ile)
1g.99891633T>CCA341325736AGLc.2977T>C (p.Phe993Leu)
n.3188T>C
c.2929T>C (p.Phe977Leu)
c.2926T>C (p.Phe976Leu)
c.1237T>C (p.Phe413Leu)
1g.99891633T>GCA341325735AGLc.2977T>G (p.Phe993Val)
n.3188T>G
c.2929T>G (p.Phe977Val)
c.2926T>G (p.Phe976Val)
c.1237T>G (p.Phe413Val)
1g.99891634T>ACA341325738AGLc.2978T>A (p.Phe993Tyr)
n.3189T>A
c.2930T>A (p.Phe977Tyr)
c.2927T>A (p.Phe976Tyr)
c.1238T>A (p.Phe413Tyr)
1g.99891634T>CCA341325740AGLc.2978T>C (p.Phe993Ser)
n.3189T>C
c.2930T>C (p.Phe977Ser)
c.2927T>C (p.Phe976Ser)
c.1238T>C (p.Phe413Ser)
1g.99891634T>GCA341325739AGLc.2978T>G (p.Phe993Cys)
n.3189T>G
c.2930T>G (p.Phe977Cys)
c.2927T>G (p.Phe976Cys)
c.1238T>G (p.Phe413Cys)
1g.99891635C>ACA341325741AGLc.2979C>A (p.Phe993Leu)
n.3190C>A
c.2931C>A (p.Phe977Leu)
c.2928C>A (p.Phe976Leu)
c.1239C>A (p.Phe413Leu)
1g.99891635C>GCA341325742AGLc.2979C>G (p.Phe993Leu)
n.3190C>G
c.2931C>G (p.Phe977Leu)
c.2928C>G (p.Phe976Leu)
c.1239C>G (p.Phe413Leu)
1g.99891635C>TCA419314535AGLc.2979C>T (p.Phe993=)
n.3190C>T
c.2931C>T (p.Phe977=)
c.2928C>T (p.Phe976=)
c.1239C>T (p.Phe413=)
1g.99891636T>ACA341325743AGLc.2980T>A (p.Tyr994Asn)
n.3191T>A
c.2932T>A (p.Tyr978Asn)
c.2929T>A (p.Tyr977Asn)
c.1240T>A (p.Tyr414Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.99891636T>CCA341325745AGLc.2980T>C (p.Tyr994His)
n.3191T>C
c.2932T>C (p.Tyr978His)
c.2929T>C (p.Tyr977His)
c.1240T>C (p.Tyr414His)
 COSMIC COSMIC
1g.99891636T>GCA341325747AGLc.2980T>G (p.Tyr994Asp)
n.3191T>G
c.2932T>G (p.Tyr978Asp)
c.2929T>G (p.Tyr977Asp)
c.1240T>G (p.Tyr414Asp)
1g.99891636T=CA1183933369AGLc.2980T= (p.Tyr994=)
n.3191T=
c.2932T= (p.Tyr978=)
c.2929T= (p.Tyr977=)
c.1240T= (p.Tyr414=)
1g.99891637A=CA1183933370AGLc.2981A= (p.Tyr994=)
n.3192A=
c.2933A= (p.Tyr978=)
c.2930A= (p.Tyr977=)
c.1241A= (p.Tyr414=)
1g.99891637A>CCA341325751AGLc.2981A>C (p.Tyr994Ser)
n.3192A>C
c.2933A>C (p.Tyr978Ser)
c.2930A>C (p.Tyr977Ser)
c.1241A>C (p.Tyr414Ser)
 ClinVar dbSNP
1g.99891637A>GCA341325752AGLc.2981A>G (p.Tyr994Cys)
n.3192A>G
c.2933A>G (p.Tyr978Cys)
c.2930A>G (p.Tyr977Cys)
c.1241A>G (p.Tyr414Cys)
 dbSNP gnomAD v4
1g.99891637A>TCA341325753AGLc.2981A>T (p.Tyr994Phe)
n.3192A>T
c.2933A>T (p.Tyr978Phe)
c.2930A>T (p.Tyr977Phe)
c.1241A>T (p.Tyr414Phe)
1g.99891638C>ACA341325754AGLc.2982C>A (p.Tyr994Ter)
n.3193C>A
c.2934C>A (p.Tyr978Ter)
c.2931C>A (p.Tyr977Ter)
c.1242C>A (p.Tyr414Ter)
1g.99891638C=CA1183933371AGLc.2982C= (p.Tyr994=)
n.3193C=
c.2934C= (p.Tyr978=)
c.2931C= (p.Tyr977=)
c.1242C= (p.Tyr414=)
1g.99891638C>GCA341325755AGLc.2982C>G (p.Tyr994Ter)
n.3193C>G
c.2934C>G (p.Tyr978Ter)
c.2931C>G (p.Tyr977Ter)
c.1242C>G (p.Tyr414Ter)
1g.99891638C>TCA419314536AGLc.2982C>T (p.Tyr994=)
n.3193C>T
c.2934C>T (p.Tyr978=)
c.2931C>T (p.Tyr977=)
c.1242C>T (p.Tyr414=)
 ClinVar dbSNP gnomAD v4
1g.99891639C>ACA341325757AGLc.2983C>A (p.Leu995Met)
n.3194C>A
c.2935C>A (p.Leu979Met)
c.2932C>A (p.Leu978Met)
c.1243C>A (p.Leu415Met)
1g.99891639C=CA1183933372AGLc.2983C= (p.Leu995=)
n.3194C=
c.2935C= (p.Leu979=)
c.2932C= (p.Leu978=)
c.1243C= (p.Leu415=)
1g.99891639C>GCA341325761AGLc.2983C>G (p.Leu995Val)
n.3194C>G
c.2935C>G (p.Leu979Val)
c.2932C>G (p.Leu978Val)
c.1243C>G (p.Leu415Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99891639C>TCA419314537AGLc.2983C>T (p.Leu995=)
n.3194C>T
c.2935C>T (p.Leu979=)
c.2932C>T (p.Leu978=)
c.1243C>T (p.Leu415=)
 ClinVar dbSNP
1g.99891640T>ACA341325766AGLc.2984T>A (p.Leu995Gln)
n.3195T>A
c.2936T>A (p.Leu979Gln)
c.2933T>A (p.Leu978Gln)
c.1244T>A (p.Leu415Gln)
1g.99891640T>CCA341325790AGLc.2984T>C (p.Leu995Pro)
n.3195T>C
c.2936T>C (p.Leu979Pro)
c.2933T>C (p.Leu978Pro)
c.1244T>C (p.Leu415Pro)
 dbSNP
1g.99891640T>GCA341325794AGLc.2984T>G (p.Leu995Arg)
n.3195T>G
c.2936T>G (p.Leu979Arg)
c.2933T>G (p.Leu978Arg)
c.1244T>G (p.Leu415Arg)
1g.99891641G>ACA419314538AGLc.2985G>A (p.Leu995=)
n.3196G>A
c.2937G>A (p.Leu979=)
c.2934G>A (p.Leu978=)
c.1245G>A (p.Leu415=)
 ClinVar dbSNP
1g.99891641G>CCA419314539AGLc.2985G>C (p.Leu995=)
n.3196G>C
c.2937G>C (p.Leu979=)
c.2934G>C (p.Leu978=)
c.1245G>C (p.Leu415=)
1g.99891641G>TCA419314540AGLc.2985G>T (p.Leu995=)
n.3196G>T
c.2937G>T (p.Leu979=)
c.2934G>T (p.Leu978=)
c.1245G>T (p.Leu415=)
1g.99891642A>CCA341325827AGLc.2986A>C (p.Lys996Gln)
n.3197A>C
c.2938A>C (p.Lys980Gln)
c.2935A>C (p.Lys979Gln)
c.1246A>C (p.Lys416Gln)
1g.99891642A>GCA341325822AGLc.2986A>G (p.Lys996Glu)
n.3197A>G
c.2938A>G (p.Lys980Glu)
c.2935A>G (p.Lys979Glu)
c.1246A>G (p.Lys416Glu)
1g.99891642A>TCA341325824AGLc.2986A>T (p.Lys996Ter)
n.3197A>T
c.2938A>T (p.Lys980Ter)
c.2935A>T (p.Lys979Ter)
c.1246A>T (p.Lys416Ter)
1g.99891643A>CCA341325828AGLc.2987A>C (p.Lys996Thr)
n.3198A>C
c.2939A>C (p.Lys980Thr)
c.2936A>C (p.Lys979Thr)
c.1247A>C (p.Lys416Thr)
1g.99891643A>GCA341325829AGLc.2987A>G (p.Lys996Arg)
n.3198A>G
c.2939A>G (p.Lys980Arg)
c.2936A>G (p.Lys979Arg)
c.1247A>G (p.Lys416Arg)
 gnomAD v4
1g.99891643A>TCA341325830AGLc.2987A>T (p.Lys996Met)
n.3198A>T
c.2939A>T (p.Lys980Met)
c.2936A>T (p.Lys979Met)
c.1247A>T (p.Lys416Met)
1g.99891644G>ACA419314541AGLc.2988G>A (p.Lys996=)
n.3199G>A
c.2940G>A (p.Lys980=)
c.2937G>A (p.Lys979=)
c.1248G>A (p.Lys416=)
1g.99891644G>CCA341325834AGLc.2988G>C (p.Lys996Asn)
n.3199G>C
c.2940G>C (p.Lys980Asn)
c.2937G>C (p.Lys979Asn)
c.1248G>C (p.Lys416Asn)
1g.99891644G>TCA341325837AGLc.2988G>T (p.Lys996Asn)
n.3199G>T
c.2940G>T (p.Lys980Asn)
c.2937G>T (p.Lys979Asn)
c.1248G>T (p.Lys416Asn)
1g.99891645C>ACA341325841AGLc.2989C>A (p.Gln997Lys)
n.3200C>A
c.2941C>A (p.Gln981Lys)
c.2938C>A (p.Gln980Lys)
c.1249C>A (p.Gln417Lys)
1g.99891645C=CA1183933373AGLc.2989C= (p.Gln997=)
n.3200C=
c.2941C= (p.Gln981=)
c.2938C= (p.Gln980=)
c.1249C= (p.Gln417=)
1g.99891645C>GCA341325850AGLc.2989C>G (p.Gln997Glu)
n.3200C>G
c.2941C>G (p.Gln981Glu)
c.2938C>G (p.Gln980Glu)
c.1249C>G (p.Gln417Glu)
1g.99891645C>TCA341325854AGLc.2989C>T (p.Gln997Ter)
n.3200C>T
c.2941C>T (p.Gln981Ter)
c.2938C>T (p.Gln980Ter)
c.1249C>T (p.Gln417Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99891646A=CA1183933374AGLc.2990A= (p.Gln997=)
n.3201A=
c.2942A= (p.Gln981=)
c.2939A= (p.Gln980=)
c.1250A= (p.Gln417=)
1g.99891646A>CCA341325858AGLc.2990A>C (p.Gln997Pro)
n.3201A>C
c.2942A>C (p.Gln981Pro)
c.2939A>C (p.Gln980Pro)
c.1250A>C (p.Gln417Pro)
1g.99891646A>GCA341325860AGLc.2990A>G (p.Gln997Arg)
n.3201A>G
c.2942A>G (p.Gln981Arg)
c.2939A>G (p.Gln980Arg)
c.1250A>G (p.Gln417Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99891646A>TCA341325863AGLc.2990A>T (p.Gln997Leu)
n.3201A>T
c.2942A>T (p.Gln981Leu)
c.2939A>T (p.Gln980Leu)
c.1250A>T (p.Gln417Leu)
1g.99891647G>ACA419314542AGLc.2991G>A (p.Gln997=)
n.3202G>A
c.2943G>A (p.Gln981=)
c.2940G>A (p.Gln980=)
c.1251G>A (p.Gln417=)
 ClinVar dbSNP gnomAD v4
1g.99891647G>CCA341325865AGLc.2991G>C (p.Gln997His)
n.3202G>C
c.2943G>C (p.Gln981His)
c.2940G>C (p.Gln980His)
c.1251G>C (p.Gln417His)
1g.99891647G=CA1183933375AGLc.2991G= (p.Gln997=)
n.3202G=
c.2943G= (p.Gln981=)
c.2940G= (p.Gln980=)
c.1251G= (p.Gln417=)
1g.99891647G>TCA341325869AGLc.2991G>T (p.Gln997His)
n.3202G>T
c.2943G>T (p.Gln981His)
c.2940G>T (p.Gln980His)
c.1251G>T (p.Gln417His)
1g.99891648A>CCA341325884AGLc.2992A>C (p.Ile998Leu)
n.3203A>C
c.2944A>C (p.Ile982Leu)
c.2941A>C (p.Ile981Leu)
c.1252A>C (p.Ile418Leu)
1g.99891648A>GCA341325871AGLc.2992A>G (p.Ile998Val)
n.3203A>G
c.2944A>G (p.Ile982Val)
c.2941A>G (p.Ile981Val)
c.1252A>G (p.Ile418Val)
1g.99891648A>TCA341325875AGLc.2992A>T (p.Ile998Phe)
n.3203A>T
c.2944A>T (p.Ile982Phe)
c.2941A>T (p.Ile981Phe)
c.1252A>T (p.Ile418Phe)
1g.99891649T>ACA341325886AGLc.2993T>A (p.Ile998Asn)
n.3204T>A
c.2945T>A (p.Ile982Asn)
c.2942T>A (p.Ile981Asn)
c.1253T>A (p.Ile418Asn)
1g.99891649T>CCA341325889AGLc.2993T>C (p.Ile998Thr)
n.3204T>C
c.2945T>C (p.Ile982Thr)
c.2942T>C (p.Ile981Thr)
c.1253T>C (p.Ile418Thr)
 COSMIC COSMIC
1g.99891649T>GCA341325891AGLc.2993T>G (p.Ile998Ser)
n.3204T>G
c.2945T>G (p.Ile982Ser)
c.2942T>G (p.Ile981Ser)
c.1253T>G (p.Ile418Ser)
1g.99891649_99891650delinsTCCA1183933376AGLc.2993_2994delinsTC (p.Ile998=)
n.3204_3205delinsTC
c.2945_2946delinsTC (p.Ile982=)
c.2942_2943delinsTC (p.Ile981=)
c.1253_1254delinsTC (p.Ile418=)
1g.99891650C>ACA419314543AGLc.2994C>A (p.Ile998=)
n.3205C>A
c.2946C>A (p.Ile982=)
c.2943C>A (p.Ile981=)
c.1254C>A (p.Ile418=)
1g.99891650C>GCA341325894AGLc.2994C>G (p.Ile998Met)
n.3205C>G
c.2946C>G (p.Ile982Met)
c.2943C>G (p.Ile981Met)
c.1254C>G (p.Ile418Met)
1g.99891650C>TCA419314544AGLc.2994C>T (p.Ile998=)
n.3205C>T
c.2946C>T (p.Ile982=)
c.2943C>T (p.Ile981=)
c.1254C>T (p.Ile418=)
 gnomAD v4
1g.99891652delCA1183933377AGLc.2996del (p.Pro999HisfsTer13)
n.3207del
c.2948del (p.Pro983HisfsTer13)
c.2945del (p.Pro982HisfsTer13)
c.1256del (p.Pro419HisfsTer13)
 ClinVar dbSNP gnomAD v4
1g.99891651C>ACA341325897AGLc.2995C>A (p.Pro999Thr)
n.3206C>A
c.2947C>A (p.Pro983Thr)
c.2944C>A (p.Pro982Thr)
c.1255C>A (p.Pro419Thr)
1g.99891651C=CA1183933378AGLc.2995C= (p.Pro999=)
n.3206C=
c.2947C= (p.Pro983=)
c.2944C= (p.Pro982=)
c.1255C= (p.Pro419=)
1g.99891651C>GCA341325899AGLc.2995C>G (p.Pro999Ala)
n.3206C>G
c.2947C>G (p.Pro983Ala)
c.2944C>G (p.Pro982Ala)
c.1255C>G (p.Pro419Ala)
1g.99891651C>TCA341325901AGLc.2995C>T (p.Pro999Ser)
n.3206C>T
c.2947C>T (p.Pro983Ser)
c.2944C>T (p.Pro982Ser)
c.1255C>T (p.Pro419Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.99891652C>ACA341325907AGLc.2996C>A (p.Pro999Gln)
n.3207C>A
c.2948C>A (p.Pro983Gln)
c.2945C>A (p.Pro982Gln)
c.1256C>A (p.Pro419Gln)
1g.99891652C>GCA341325910AGLc.2996C>G (p.Pro999Arg)
n.3207C>G
c.2948C>G (p.Pro983Arg)
c.2945C>G (p.Pro982Arg)
c.1256C>G (p.Pro419Arg)
1g.99891652C>TCA341325913AGLc.2996C>T (p.Pro999Leu)
n.3207C>T
c.2948C>T (p.Pro983Leu)
c.2945C>T (p.Pro982Leu)
c.1256C>T (p.Pro419Leu)
1g.99891653A>CCA419314545AGLc.2997A>C (p.Pro999=)
n.3208A>C
c.2949A>C (p.Pro983=)
c.2946A>C (p.Pro982=)
c.1257A>C (p.Pro419=)
 ClinVar
1g.99891653A>GCA419314546AGLc.2997A>G (p.Pro999=)
n.3208A>G
c.2949A>G (p.Pro983=)
c.2946A>G (p.Pro982=)
c.1257A>G (p.Pro419=)
 ClinVar
1g.99891653A>TCA419314547AGLc.2997A>T (p.Pro999=)
n.3208A>T
c.2949A>T (p.Pro983=)
c.2946A>T (p.Pro982=)
c.1257A>T (p.Pro419=)
1g.99891654C>ACA341325915AGLc.2998C>A (p.Arg1000Ser)
n.3209C>A
c.2950C>A (p.Arg984Ser)
c.2947C>A (p.Arg983Ser)
c.1258C>A (p.Arg420Ser)
1g.99891654C=CA1183933379AGLc.2998C= (p.Arg1000=)
n.3209C=
c.2950C= (p.Arg984=)
c.2947C= (p.Arg983=)
c.1258C= (p.Arg420=)
1g.99891654C>GCA341325918AGLc.2998C>G (p.Arg1000Gly)
n.3209C>G
c.2950C>G (p.Arg984Gly)
c.2947C>G (p.Arg983Gly)
c.1258C>G (p.Arg420Gly)
1g.99891654C>TCA341325921AGLc.2998C>T (p.Arg1000Cys)
n.3209C>T
c.2950C>T (p.Arg984Cys)
c.2947C>T (p.Arg983Cys)
c.1258C>T (p.Arg420Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99891655G>ACA341325930AGLc.2999G>A (p.Arg1000His)
n.3210G>A
c.2951G>A (p.Arg984His)
c.2948G>A (p.Arg983His)
c.1259G>A (p.Arg420His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.99891655G>CCA341325928AGLc.2999G>C (p.Arg1000Pro)
n.3210G>C
c.2951G>C (p.Arg984Pro)
c.2948G>C (p.Arg983Pro)
c.1259G>C (p.Arg420Pro)
1g.99891655G=CA1183933380AGLc.2999G= (p.Arg1000=)
n.3210G=
c.2951G= (p.Arg984=)
c.2948G= (p.Arg983=)
c.1259G= (p.Arg420=)
1g.99891655G>TCA341325925AGLc.2999G>T (p.Arg1000Leu)
n.3210G>T
c.2951G>T (p.Arg984Leu)
c.2948G>T (p.Arg983Leu)
c.1259G>T (p.Arg420Leu)
1g.99891656T>ACA419314548AGLc.3000T>A (p.Arg1000=)
n.3211T>A
c.2952T>A (p.Arg984=)
c.2949T>A (p.Arg983=)
c.1260T>A (p.Arg420=)
1g.99891656T>CCA419314549AGLc.3000T>C (p.Arg1000=)
n.3211T>C
c.2952T>C (p.Arg984=)
c.2949T>C (p.Arg983=)
c.1260T>C (p.Arg420=)
1g.99891656T>GCA419314550AGLc.3000T>G (p.Arg1000=)
n.3211T>G
c.2952T>G (p.Arg984=)
c.2949T>G (p.Arg983=)
c.1260T>G (p.Arg420=)
1g.99891657T>ACA341325933AGLc.3001T>A (p.Tyr1001Asn)
n.3212T>A
c.2953T>A (p.Tyr985Asn)
c.2950T>A (p.Tyr984Asn)
c.1261T>A (p.Tyr421Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99891657T>CCA341325937AGLc.3001T>C (p.Tyr1001His)
n.3212T>C
c.2953T>C (p.Tyr985His)
c.2950T>C (p.Tyr984His)
c.1261T>C (p.Tyr421His)
1g.99891657T>GCA341325938AGLc.3001T>G (p.Tyr1001Asp)
n.3212T>G
c.2953T>G (p.Tyr985Asp)
c.2950T>G (p.Tyr984Asp)
c.1261T>G (p.Tyr421Asp)
1g.99891657T=CA1183933381AGLc.3001T= (p.Tyr1001=)
n.3212T=
c.2953T= (p.Tyr985=)
c.2950T= (p.Tyr984=)
c.1261T= (p.Tyr421=)
1g.99891658A=CA1147618158AGLc.3002A= (p.Tyr1001=)
n.3213A=
c.2954A= (p.Tyr985=)
c.2951A= (p.Tyr984=)
c.1262A= (p.Tyr421=)
1g.99891658A>CCA341325941AGLc.3002A>C (p.Tyr1001Ser)
n.3213A>C
c.2954A>C (p.Tyr985Ser)
c.2951A>C (p.Tyr984Ser)
c.1262A>C (p.Tyr421Ser)
1g.99891658A>GCA966949AGLc.3002A>G (p.Tyr1001Cys)
n.3213A>G
c.2954A>G (p.Tyr985Cys)
c.2951A>G (p.Tyr984Cys)
c.1262A>G (p.Tyr421Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99891658A>TCA341325946AGLc.3002A>T (p.Tyr1001Phe)
n.3213A>T
c.2954A>T (p.Tyr985Phe)
c.2951A>T (p.Tyr984Phe)
c.1262A>T (p.Tyr421Phe)
1g.99891659C>ACA341325955AGLc.3003C>A (p.Tyr1001Ter)
n.3214C>A
c.2955C>A (p.Tyr985Ter)
c.2952C>A (p.Tyr984Ter)
c.1263C>A (p.Tyr421Ter)
 ClinVar
1g.99891659C>GCA341325959AGLc.3003C>G (p.Tyr1001Ter)
n.3214C>G
c.2955C>G (p.Tyr985Ter)
c.2952C>G (p.Tyr984Ter)
c.1263C>G (p.Tyr421Ter)
1g.99891659C>TCA419314551AGLc.3003C>T (p.Tyr1001=)
n.3214C>T
c.2955C>T (p.Tyr985=)
c.2952C>T (p.Tyr984=)
c.1263C>T (p.Tyr421=)
 gnomAD v4
1g.99891660C>ACA341325963AGLc.3004C>A (p.Leu1002Ile)
n.3215C>A
c.2956C>A (p.Leu986Ile)
c.2953C>A (p.Leu985Ile)
c.1264C>A (p.Leu422Ile)
1g.99891660C=CA1183933382AGLc.3004C= (p.Leu1002=)
n.3215C=
c.2956C= (p.Leu986=)
c.2953C= (p.Leu985=)
c.1264C= (p.Leu422=)
1g.99891660C>GCA341325964AGLc.3004C>G (p.Leu1002Val)
n.3215C>G
c.2956C>G (p.Leu986Val)
c.2953C>G (p.Leu985Val)
c.1264C>G (p.Leu422Val)
1g.99891660C>TCA341325974AGLc.3004C>T (p.Leu1002Phe)
n.3215C>T
c.2956C>T (p.Leu986Phe)
c.2953C>T (p.Leu985Phe)
c.1264C>T (p.Leu422Phe)
 dbSNP
1g.99891661T>ACA341325975AGLc.3005T>A (p.Leu1002His)
n.3216T>A
c.2957T>A (p.Leu986His)
c.2954T>A (p.Leu985His)
c.1265T>A (p.Leu422His)
1g.99891661T>CCA341325976AGLc.3005T>C (p.Leu1002Pro)
n.3216T>C
c.2957T>C (p.Leu986Pro)
c.2954T>C (p.Leu985Pro)
c.1265T>C (p.Leu422Pro)
1g.99891661T>GCA341325977AGLc.3005T>G (p.Leu1002Arg)
n.3216T>G
c.2957T>G (p.Leu986Arg)
c.2954T>G (p.Leu985Arg)
c.1265T>G (p.Leu422Arg)
1g.99891662delCA2744755894AGLc.3006del (p.Ile1003SerfsTer9)
n.3217del
c.2958del (p.Ile987SerfsTer9)
c.2955del (p.Ile986SerfsTer9)
c.1266del (p.Ile423SerfsTer9)
1g.99891662T>ACA419314552AGLc.3006T>A (p.Leu1002=)
n.3217T>A
c.2958T>A (p.Leu986=)
c.2955T>A (p.Leu985=)
c.1266T>A (p.Leu422=)
1g.99891662T>CCA419314553AGLc.3006T>C (p.Leu1002=)
n.3217T>C
c.2958T>C (p.Leu986=)
c.2955T>C (p.Leu985=)
c.1266T>C (p.Leu422=)
1g.99891662T>GCA419314554AGLc.3006T>G (p.Leu1002=)
n.3217T>G
c.2958T>G (p.Leu986=)
c.2955T>G (p.Leu985=)
c.1266T>G (p.Leu422=)
1g.99891663A>CCA341325986AGLc.3007A>C (p.Ile1003Leu)
n.3218A>C
c.2959A>C (p.Ile987Leu)
c.2956A>C (p.Ile986Leu)
c.1267A>C (p.Ile423Leu)
 gnomAD v4
1g.99891663A>GCA341325988AGLc.3007A>G (p.Ile1003Val)
n.3218A>G
c.2959A>G (p.Ile987Val)
c.2956A>G (p.Ile986Val)
c.1267A>G (p.Ile423Val)
1g.99891663A>TCA341325980AGLc.3007A>T (p.Ile1003Phe)
n.3218A>T
c.2959A>T (p.Ile987Phe)
c.2956A>T (p.Ile986Phe)
c.1267A>T (p.Ile423Phe)
1g.99891664T>ACA341325990AGLc.3008T>A (p.Ile1003Asn)
n.3219T>A
c.2960T>A (p.Ile987Asn)
c.2957T>A (p.Ile986Asn)
c.1268T>A (p.Ile423Asn)
1g.99891664T>CCA27526832AGLc.3008T>C (p.Ile1003Thr)
n.3219T>C
c.2960T>C (p.Ile987Thr)
c.2957T>C (p.Ile986Thr)
c.1268T>C (p.Ile423Thr)
 dbSNP
1g.99891664T>GCA341325991AGLc.3008T>G (p.Ile1003Ser)
n.3219T>G
c.2960T>G (p.Ile987Ser)
c.2957T>G (p.Ile986Ser)
c.1268T>G (p.Ile423Ser)
1g.99891664T=CA1183933383AGLc.3008T= (p.Ile1003=)
n.3219T=
c.2960T= (p.Ile987=)
c.2957T= (p.Ile986=)
c.1268T= (p.Ile423=)
1g.99891664_99891665delinsTCCA1183933384AGLc.3008_3009delinsTC (p.Ile1003=)
n.3219_3220delinsTC
c.2960_2961delinsTC (p.Ile987=)
c.2957_2958delinsTC (p.Ile986=)
c.1268_1269delinsTC (p.Ile423=)
1g.99891665C>ACA419314555AGLc.3009C>A (p.Ile1003=)
n.3220C>A
c.2961C>A (p.Ile987=)
c.2958C>A (p.Ile986=)
c.1269C>A (p.Ile423=)
1g.99891665C=CA1183933385AGLc.3009C= (p.Ile1003=)
n.3220C=
c.2961C= (p.Ile987=)
c.2958C= (p.Ile986=)
c.1269C= (p.Ile423=)
1g.99891665C>GCA341325998AGLc.3009C>G (p.Ile1003Met)
n.3220C>G
c.2961C>G (p.Ile987Met)
c.2958C>G (p.Ile986Met)
c.1269C>G (p.Ile423Met)
 dbSNP gnomAD v3 gnomAD v4
1g.99891665C>TCA419314556AGLc.3009C>T (p.Ile1003=)
n.3220C>T
c.2961C>T (p.Ile987=)
c.2958C>T (p.Ile986=)
c.1269C>T (p.Ile423=)
1g.99891667delCA16040841AGLc.3011del (p.Pro1004HisfsTer8)
n.3222del
c.2963del (p.Pro988HisfsTer8)
c.2960del (p.Pro987HisfsTer8)
c.1271del (p.Pro424HisfsTer8)
 ClinVar dbSNP gnomAD v4
1g.99891666C>ACA341326002AGLc.3010C>A (p.Pro1004Thr)
n.3221C>A
c.2962C>A (p.Pro988Thr)
c.2959C>A (p.Pro987Thr)
c.1270C>A (p.Pro424Thr)
1g.99891666C=CA1183933386AGLc.3010C= (p.Pro1004=)
n.3221C=
c.2962C= (p.Pro988=)
c.2959C= (p.Pro987=)
c.1270C= (p.Pro424=)
1g.99891666C>GCA341326003AGLc.3010C>G (p.Pro1004Ala)
n.3221C>G
c.2962C>G (p.Pro988Ala)
c.2959C>G (p.Pro987Ala)
c.1270C>G (p.Pro424Ala)
 ClinVar dbSNP
1g.99891666C>TCA341326004AGLc.3010C>T (p.Pro1004Ser)
n.3221C>T
c.2962C>T (p.Pro988Ser)
c.2959C>T (p.Pro987Ser)
c.1270C>T (p.Pro424Ser)
1g.99891667C>ACA341326008AGLc.3011C>A (p.Pro1004Gln)
n.3222C>A
c.2963C>A (p.Pro988Gln)
c.2960C>A (p.Pro987Gln)
c.1271C>A (p.Pro424Gln)
1g.99891667C=CA1183933387AGLc.3011C= (p.Pro1004=)
n.3222C=
c.2963C= (p.Pro988=)
c.2960C= (p.Pro987=)
c.1271C= (p.Pro424=)
1g.99891667C>GCA341326009AGLc.3011C>G (p.Pro1004Arg)
n.3222C>G
c.2963C>G (p.Pro988Arg)
c.2960C>G (p.Pro987Arg)
c.1271C>G (p.Pro424Arg)
1g.99891667C>TCA966950AGLc.3011C>T (p.Pro1004Leu)
n.3222C>T
c.2963C>T (p.Pro988Leu)
c.2960C>T (p.Pro987Leu)
c.1271C>T (p.Pro424Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.99891668A=CA1183933388AGLc.3012A= (p.Pro1004=)
n.3223A=
c.2964A= (p.Pro988=)
c.2961A= (p.Pro987=)
c.1272A= (p.Pro424=)
1g.99891668A>CCA419314557AGLc.3012A>C (p.Pro1004=)
n.3223A>C
c.2964A>C (p.Pro988=)
c.2961A>C (p.Pro987=)
c.1272A>C (p.Pro424=)
 ClinVar gnomAD v4
1g.99891668A>GCA966951AGLc.3012A>G (p.Pro1004=)
n.3223A>G
c.2964A>G (p.Pro988=)
c.2961A>G (p.Pro987=)
c.1272A>G (p.Pro424=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99891668A>TCA419314558AGLc.3012A>T (p.Pro1004=)
n.3223A>T
c.2964A>T (p.Pro988=)
c.2961A>T (p.Pro987=)
c.1272A>T (p.Pro424=)
1g.99891669T>ACA341326010AGLc.3013T>A (p.Cys1005Ser)
n.3224T>A
c.2965T>A (p.Cys989Ser)
c.2962T>A (p.Cys988Ser)
c.1273T>A (p.Cys425Ser)
1g.99891669T>CCA341326011AGLc.3013T>C (p.Cys1005Arg)
n.3224T>C
c.2965T>C (p.Cys989Arg)
c.2962T>C (p.Cys988Arg)
c.1273T>C (p.Cys425Arg)
1g.99891669T>GCA341326015AGLc.3013T>G (p.Cys1005Gly)
n.3224T>G
c.2965T>G (p.Cys989Gly)
c.2962T>G (p.Cys988Gly)
c.1273T>G (p.Cys425Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99891669T=CA1183933389AGLc.3013T= (p.Cys1005=)
n.3224T=
c.2965T= (p.Cys989=)
c.2962T= (p.Cys988=)
c.1273T= (p.Cys425=)
1g.99891669_99891670delinsTGCA1183933390AGLc.3013_3014delinsTG (p.Cys1005=)
n.3224_3225delinsTG
c.2965_2966delinsTG (p.Cys989=)
c.2962_2963delinsTG (p.Cys988=)
c.1273_1274delinsTG (p.Cys425=)
1g.99891670delCA966952AGLc.3014del (p.Cys1005PhefsTer7)
n.3225del
c.2966del (p.Cys989PhefsTer7)
c.2963del (p.Cys988PhefsTer7)
c.1274del (p.Cys425PhefsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99891670G>ACA341326029AGLc.3014G>A (p.Cys1005Tyr)
n.3225G>A
c.2966G>A (p.Cys989Tyr)
c.2963G>A (p.Cys988Tyr)
c.1274G>A (p.Cys425Tyr)
1g.99891670G>CCA341326019AGLc.3014G>C (p.Cys1005Ser)
n.3225G>C
c.2966G>C (p.Cys989Ser)
c.2963G>C (p.Cys988Ser)
c.1274G>C (p.Cys425Ser)
1g.99891670G>TCA341326027AGLc.3014G>T (p.Cys1005Phe)
n.3225G>T
c.2966G>T (p.Cys989Phe)
c.2963G>T (p.Cys988Phe)
c.1274G>T (p.Cys425Phe)
1g.99891671T>ACA341326033AGLc.3015T>A (p.Cys1005Ter)
n.3226T>A
c.2967T>A (p.Cys989Ter)
c.2964T>A (p.Cys988Ter)
c.1275T>A (p.Cys425Ter)
1g.99891671T>CCA419314559AGLc.3015T>C (p.Cys1005=)
n.3226T>C
c.2967T>C (p.Cys989=)
c.2964T>C (p.Cys988=)
c.1275T>C (p.Cys425=)
1g.99891671T>GCA341326036AGLc.3015T>G (p.Cys1005Trp)
n.3226T>G
c.2967T>G (p.Cys989Trp)
c.2964T>G (p.Cys988Trp)
c.1275T>G (p.Cys425Trp)
1g.99891672T>ACA341326038AGLc.3016T>A (p.Tyr1006Asn)
n.3227T>A
c.2968T>A (p.Tyr990Asn)
c.2965T>A (p.Tyr989Asn)
c.1276T>A (p.Tyr426Asn)
1g.99891672T>CCA341326040AGLc.3016T>C (p.Tyr1006His)
n.3227T>C
c.2968T>C (p.Tyr990His)
c.2965T>C (p.Tyr989His)
c.1276T>C (p.Tyr426His)
1g.99891672T>GCA341326044AGLc.3016T>G (p.Tyr1006Asp)
n.3227T>G
c.2968T>G (p.Tyr990Asp)
c.2965T>G (p.Tyr989Asp)
c.1276T>G (p.Tyr426Asp)
1g.99891673A>CCA341326046AGLc.3017A>C (p.Tyr1006Ser)
n.3228A>C
c.2969A>C (p.Tyr990Ser)
c.2966A>C (p.Tyr989Ser)
c.1277A>C (p.Tyr426Ser)
1g.99891673A>GCA341326048AGLc.3017A>G (p.Tyr1006Cys)
n.3228A>G
c.2969A>G (p.Tyr990Cys)
c.2966A>G (p.Tyr989Cys)
c.1277A>G (p.Tyr426Cys)
1g.99891673A>TCA341326050AGLc.3017A>T (p.Tyr1006Phe)
n.3228A>T
c.2969A>T (p.Tyr990Phe)
c.2966A>T (p.Tyr989Phe)
c.1277A>T (p.Tyr426Phe)
1g.99891674C>ACA341326053AGLc.3018C>A (p.Tyr1006Ter)
n.3229C>A
c.2970C>A (p.Tyr990Ter)
c.2967C>A (p.Tyr989Ter)
c.1278C>A (p.Tyr426Ter)
1g.99891674C>GCA341326055AGLc.3018C>G (p.Tyr1006Ter)
n.3229C>G
c.2970C>G (p.Tyr990Ter)
c.2967C>G (p.Tyr989Ter)
c.1278C>G (p.Tyr426Ter)
1g.99891674C>TCA419314560AGLc.3018C>T (p.Tyr1006=)
n.3229C>T
c.2970C>T (p.Tyr990=)
c.2967C>T (p.Tyr989=)
c.1278C>T (p.Tyr426=)
1g.99891675T>ACA341326064AGLc.3019T>A (p.Phe1007Ile)
n.3230T>A
c.2971T>A (p.Phe991Ile)
c.2968T>A (p.Phe990Ile)
c.1279T>A (p.Phe427Ile)
1g.99891675T>CCA341326063AGLc.3019T>C (p.Phe1007Leu)
n.3230T>C
c.2971T>C (p.Phe991Leu)
c.2968T>C (p.Phe990Leu)
c.1279T>C (p.Phe427Leu)
 ClinVar
1g.99891675T>GCA341326061AGLc.3019T>G (p.Phe1007Val)
n.3230T>G
c.2971T>G (p.Phe991Val)
c.2968T>G (p.Phe990Val)
c.1279T>G (p.Phe427Val)
1g.99891676T>ACA341326065AGLc.3020T>A (p.Phe1007Tyr)
n.3231T>A
c.2972T>A (p.Phe991Tyr)
c.2969T>A (p.Phe990Tyr)
c.1280T>A (p.Phe427Tyr)
1g.99891676T>CCA341326066AGLc.3020T>C (p.Phe1007Ser)
n.3231T>C
c.2972T>C (p.Phe991Ser)
c.2969T>C (p.Phe990Ser)
c.1280T>C (p.Phe427Ser)
 ClinVar dbSNP gnomAD v4
1g.99891676T>GCA341326067AGLc.3020T>G (p.Phe1007Cys)
n.3231T>G
c.2972T>G (p.Phe991Cys)
c.2969T>G (p.Phe990Cys)
c.1280T>G (p.Phe427Cys)
1g.99891676T=CA1183933391AGLc.3020T= (p.Phe1007=)
n.3231T=
c.2972T= (p.Phe991=)
c.2969T= (p.Phe990=)
c.1280T= (p.Phe427=)
1g.99891677T>ACA341326069AGLc.3021T>A (p.Phe1007Leu)
n.3232T>A
c.2973T>A (p.Phe991Leu)
c.2970T>A (p.Phe990Leu)
c.1281T>A (p.Phe427Leu)
1g.99891677T>CCA419314561AGLc.3021T>C (p.Phe1007=)
n.3232T>C
c.2973T>C (p.Phe991=)
c.2970T>C (p.Phe990=)
c.1281T>C (p.Phe427=)
1g.99891677T>GCA341326076AGLc.3021T>G (p.Phe1007Leu)
n.3232T>G
c.2973T>G (p.Phe991Leu)
c.2970T>G (p.Phe990Leu)
c.1281T>G (p.Phe427Leu)
1g.99891678G>ACA341326079AGLc.3022G>A (p.Asp1008Asn)
n.3233G>A
c.2974G>A (p.Asp992Asn)
c.2971G>A (p.Asp991Asn)
c.1282G>A (p.Asp428Asn)
1g.99891678G>CCA341326080AGLc.3022G>C (p.Asp1008His)
n.3233G>C
c.2974G>C (p.Asp992His)
c.2971G>C (p.Asp991His)
c.1282G>C (p.Asp428His)
1g.99891678G>TCA341326081AGLc.3022G>T (p.Asp1008Tyr)
n.3233G>T
c.2974G>T (p.Asp992Tyr)
c.2971G>T (p.Asp991Tyr)
c.1282G>T (p.Asp428Tyr)
1g.99891679A=CA1183933392AGLc.3023A= (p.Asp1008=)
n.3234A=
c.2975A= (p.Asp992=)
c.2972A= (p.Asp991=)
c.1283A= (p.Asp428=)
1g.99891679A>CCA341326084AGLc.3023A>C (p.Asp1008Ala)
n.3234A>C
c.2975A>C (p.Asp992Ala)
c.2972A>C (p.Asp991Ala)
c.1283A>C (p.Asp428Ala)
1g.99891679A>GCA341326085AGLc.3023A>G (p.Asp1008Gly)
n.3234A>G
c.2975A>G (p.Asp992Gly)
c.2972A>G (p.Asp991Gly)
c.1283A>G (p.Asp428Gly)
1g.99891679A>TCA27526897AGLc.3023A>T (p.Asp1008Val)
n.3234A>T
c.2975A>T (p.Asp992Val)
c.2972A>T (p.Asp991Val)
c.1283A>T (p.Asp428Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99891680T>ACA341326087AGLc.3024T>A (p.Asp1008Glu)
n.3235T>A
c.2976T>A (p.Asp992Glu)
c.2973T>A (p.Asp991Glu)
c.1284T>A (p.Asp428Glu)
1g.99891680T>CCA419314562AGLc.3024T>C (p.Asp1008=)
n.3235T>C
c.2976T>C (p.Asp992=)
c.2973T>C (p.Asp991=)
c.1284T>C (p.Asp428=)
1g.99891680T>GCA341326088AGLc.3024T>G (p.Asp1008Glu)
n.3235T>G
c.2976T>G (p.Asp992Glu)
c.2973T>G (p.Asp991Glu)
c.1284T>G (p.Asp428Glu)
1g.99891681G>ACA341326095AGLc.3025G>A (p.Ala1009Thr)
n.3236G>A
c.2977G>A (p.Ala993Thr)
c.2974G>A (p.Ala992Thr)
c.1285G>A (p.Ala429Thr)
1g.99891681G>CCA341326091AGLc.3025G>C (p.Ala1009Pro)
n.3236G>C
c.2977G>C (p.Ala993Pro)
c.2974G>C (p.Ala992Pro)
c.1285G>C (p.Ala429Pro)
1g.99891681G>TCA341326093AGLc.3025G>T (p.Ala1009Ser)
n.3236G>T
c.2977G>T (p.Ala993Ser)
c.2974G>T (p.Ala992Ser)
c.1285G>T (p.Ala429Ser)
1g.99891682C>ACA341326097AGLc.3026C>A (p.Ala1009Asp)
n.3237C>A
c.2978C>A (p.Ala993Asp)
c.2975C>A (p.Ala992Asp)
c.1286C>A (p.Ala429Asp)
1g.99891682C=CA1143397074AGLc.3026C= (p.Ala1009=)
n.3237C=
c.2978C= (p.Ala993=)
c.2975C= (p.Ala992=)
c.1286C= (p.Ala429=)
1g.99891682C>GCA341326098AGLc.3026C>G (p.Ala1009Gly)
n.3237C>G
c.2978C>G (p.Ala993Gly)
c.2975C>G (p.Ala992Gly)
c.1286C>G (p.Ala429Gly)
1g.99891682C>TCA966953AGLc.3026C>T (p.Ala1009Val)
n.3237C>T
c.2978C>T (p.Ala993Val)
c.2975C>T (p.Ala992Val)
c.1286C>T (p.Ala429Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99891683T>ACA419314563AGLc.3027T>A (p.Ala1009=)
n.3238T>A
c.2979T>A (p.Ala993=)
c.2976T>A (p.Ala992=)
c.1287T>A (p.Ala429=)
1g.99891683T>CCA419314564AGLc.3027T>C (p.Ala1009=)
n.3238T>C
c.2979T>C (p.Ala993=)
c.2976T>C (p.Ala992=)
c.1287T>C (p.Ala429=)
1g.99891683T>GCA419314565AGLc.3027T>G (p.Ala1009=)
n.3238T>G
c.2979T>G (p.Ala993=)
c.2976T>G (p.Ala992=)
c.1287T>G (p.Ala429=)
1g.99891684A>CCA341326099AGLc.3028A>C (p.Ile1010Leu)
n.3239A>C
c.2980A>C (p.Ile994Leu)
c.2977A>C (p.Ile993Leu)
c.1288A>C (p.Ile430Leu)
1g.99891684A>GCA341326102AGLc.3028A>G (p.Ile1010Val)
n.3239A>G
c.2980A>G (p.Ile994Val)
c.2977A>G (p.Ile993Val)
c.1288A>G (p.Ile430Val)
 gnomAD v4
1g.99891684A>TCA341326104AGLc.3028A>T (p.Ile1010Leu)
n.3239A>T
c.2980A>T (p.Ile994Leu)
c.2977A>T (p.Ile993Leu)
c.1288A>T (p.Ile430Leu)
1g.99891685T>ACA341326106AGLc.3029T>A (p.Ile1010Lys)
n.3240T>A
c.2981T>A (p.Ile994Lys)
c.2978T>A (p.Ile993Lys)
c.1289T>A (p.Ile430Lys)
1g.99891685T>CCA341326107AGLc.3029T>C (p.Ile1010Thr)
n.3240T>C
c.2981T>C (p.Ile994Thr)
c.2978T>C (p.Ile993Thr)
c.1289T>C (p.Ile430Thr)
1g.99891685T>GCA341326111AGLc.3029T>G (p.Ile1010Arg)
n.3240T>G
c.2981T>G (p.Ile994Arg)
c.2978T>G (p.Ile993Arg)
c.1289T>G (p.Ile430Arg)
1g.99891686A=CA1183933393AGLc.3030A= (p.Ile1010=)
n.3241A=
c.2982A= (p.Ile994=)
c.2979A= (p.Ile993=)
c.1290A= (p.Ile430=)
1g.99891686A>CCA419314566AGLc.3030A>C (p.Ile1010=)
n.3241A>C
c.2982A>C (p.Ile994=)
c.2979A>C (p.Ile993=)
c.1290A>C (p.Ile430=)
1g.99891686A>GCA27526919AGLc.3030A>G (p.Ile1010Met)
n.3241A>G
c.2982A>G (p.Ile994Met)
c.2979A>G (p.Ile993Met)
c.1290A>G (p.Ile430Met)
 ClinVar dbSNP gnomAD v4
1g.99891686A>TCA419314567AGLc.3030A>T (p.Ile1010=)
n.3241A>T
c.2982A>T (p.Ile994=)
c.2979A>T (p.Ile993=)
c.1290A>T (p.Ile430=)
 ClinVar
1g.99891689_99891692delCA2586967005AGLc.3033_3036del (p.Ile1012ValfsTer25)
n.3244_3247del
c.2985_2988del (p.Ile996ValfsTer25)
c.2982_2985del (p.Ile995ValfsTer25)
c.1293_1296del (p.Ile432ValfsTer25)
 ClinVar
1g.99891687T>ACA27526957AGLc.3031T>A (p.Leu1011Ile)
n.3242T>A
c.2983T>A (p.Leu995Ile)
c.2980T>A (p.Leu994Ile)
c.1291T>A (p.Leu431Ile)
 dbSNP
1g.99891687T>CCA419314568AGLc.3031T>C (p.Leu1011=)
n.3242T>C
c.2983T>C (p.Leu995=)
c.2980T>C (p.Leu994=)
c.1291T>C (p.Leu431=)
1g.99891687T>GCA341326116AGLc.3031T>G (p.Leu1011Val)
n.3242T>G
c.2983T>G (p.Leu995Val)
c.2980T>G (p.Leu994Val)
c.1291T>G (p.Leu431Val)
1g.99891687T=CA1183933394AGLc.3031T= (p.Leu1011=)
n.3242T=
c.2983T= (p.Leu995=)
c.2980T= (p.Leu994=)
c.1291T= (p.Leu431=)
1g.99891688T>ACA341326120AGLc.3032T>A (p.Leu1011Ter)
n.3243T>A
c.2984T>A (p.Leu995Ter)
c.2981T>A (p.Leu994Ter)
c.1292T>A (p.Leu431Ter)
1g.99891688T>CCA341326124AGLc.3032T>C (p.Leu1011Ser)
n.3243T>C
c.2984T>C (p.Leu995Ser)
c.2981T>C (p.Leu994Ser)
c.1292T>C (p.Leu431Ser)
1g.99891688T>GCA341326121AGLc.3032T>G (p.Leu1011Ter)
n.3243T>G
c.2984T>G (p.Leu995Ter)
c.2981T>G (p.Leu994Ter)
c.1292T>G (p.Leu431Ter)
1g.99891689A>CCA341326126AGLc.3033A>C (p.Leu1011Phe)
n.3244A>C
c.2985A>C (p.Leu995Phe)
c.2982A>C (p.Leu994Phe)
c.1293A>C (p.Leu431Phe)
1g.99891689A>GCA419314569AGLc.3033A>G (p.Leu1011=)
n.3244A>G
c.2985A>G (p.Leu995=)
c.2982A>G (p.Leu994=)
c.1293A>G (p.Leu431=)
1g.99891689A>TCA341326128AGLc.3033A>T (p.Leu1011Phe)
n.3244A>T
c.2985A>T (p.Leu995Phe)
c.2982A>T (p.Leu994Phe)
c.1293A>T (p.Leu431Phe)
1g.99891690A=CA1183933395AGLc.3034A= (p.Ile1012=)
n.3245A=
c.2986A= (p.Ile996=)
c.2983A= (p.Ile995=)
c.1294A= (p.Ile432=)
1g.99891690A>CCA341326132AGLc.3034A>C (p.Ile1012Leu)
n.3245A>C
c.2986A>C (p.Ile996Leu)
c.2983A>C (p.Ile995Leu)
c.1294A>C (p.Ile432Leu)
1g.99891690A>GCA341326134AGLc.3034A>G (p.Ile1012Val)
n.3245A>G
c.2986A>G (p.Ile996Val)
c.2983A>G (p.Ile995Val)
c.1294A>G (p.Ile432Val)
 dbSNP gnomAD v2 gnomAD v4
1g.99891690A>TCA341326136AGLc.3034A>T (p.Ile1012Phe)
n.3245A>T
c.2986A>T (p.Ile996Phe)
c.2983A>T (p.Ile995Phe)
c.1294A>T (p.Ile432Phe)
1g.99891691T>ACA341326137AGLc.3035T>A (p.Ile1012Asn)
n.3246T>A
c.2987T>A (p.Ile996Asn)
c.2984T>A (p.Ile995Asn)
c.1295T>A (p.Ile432Asn)
1g.99891691T>CCA341326139AGLc.3035T>C (p.Ile1012Thr)
n.3246T>C
c.2987T>C (p.Ile996Thr)
c.2984T>C (p.Ile995Thr)
c.1295T>C (p.Ile432Thr)
1g.99891691T>GCA341326142AGLc.3035T>G (p.Ile1012Ser)
n.3246T>G
c.2987T>G (p.Ile996Ser)
c.2984T>G (p.Ile995Ser)
c.1295T>G (p.Ile432Ser)
1g.99891692T>ACA419314570AGLc.3036T>A (p.Ile1012=)
n.3247T>A
c.2988T>A (p.Ile996=)
c.2985T>A (p.Ile995=)
c.1296T>A (p.Ile432=)
1g.99891692T>CCA419314571AGLc.3036T>C (p.Ile1012=)
n.3247T>C
c.2988T>C (p.Ile996=)
c.2985T>C (p.Ile995=)
c.1296T>C (p.Ile432=)
1g.99891692T>GCA341326144AGLc.3036T>G (p.Ile1012Met)
n.3247T>G
c.2988T>G (p.Ile996Met)
c.2985T>G (p.Ile995Met)
c.1296T>G (p.Ile432Met)
1g.99891693G>ACA341326147AGLc.3037G>A (p.Gly1013Ser)
n.3248G>A
c.2989G>A (p.Gly997Ser)
c.2986G>A (p.Gly996Ser)
c.1297G>A (p.Gly433Ser)
1g.99891693G>CCA341326153AGLc.3037G>C (p.Gly1013Arg)
n.3248G>C
c.2989G>C (p.Gly997Arg)
c.2986G>C (p.Gly996Arg)
c.1297G>C (p.Gly433Arg)
1g.99891693G>TCA341326156AGLc.3037G>T (p.Gly1013Cys)
n.3248G>T
c.2989G>T (p.Gly997Cys)
c.2986G>T (p.Gly996Cys)
c.1297G>T (p.Gly433Cys)
1g.99891694G>ACA341326160AGLc.3038G>A (p.Gly1013Asp)
n.3249G>A
c.2990G>A (p.Gly997Asp)
c.2987G>A (p.Gly996Asp)
c.1298G>A (p.Gly433Asp)
 ClinVar dbSNP
1g.99891694G>CCA341326162AGLc.3038G>C (p.Gly1013Ala)
n.3249G>C
c.2990G>C (p.Gly997Ala)
c.2987G>C (p.Gly996Ala)
c.1298G>C (p.Gly433Ala)
1g.99891694G=CA1183933396AGLc.3038G= (p.Gly1013=)
n.3249G=
c.2990G= (p.Gly997=)
c.2987G= (p.Gly996=)
c.1298G= (p.Gly433=)
1g.99891694G>TCA341326165AGLc.3038G>T (p.Gly1013Val)
n.3249G>T
c.2990G>T (p.Gly997Val)
c.2987G>T (p.Gly996Val)
c.1298G>T (p.Gly433Val)
1g.99891695T>ACA419314572AGLc.3039T>A (p.Gly1013=)
n.3250T>A
c.2991T>A (p.Gly997=)
c.2988T>A (p.Gly996=)
c.1299T>A (p.Gly433=)
1g.99891695T>CCA419314573AGLc.3039T>C (p.Gly1013=)
n.3250T>C
c.2991T>C (p.Gly997=)
c.2988T>C (p.Gly996=)
c.1299T>C (p.Gly433=)
1g.99891695T>GCA419314574AGLc.3039T>G (p.Gly1013=)
n.3250T>G
c.2991T>G (p.Gly997=)
c.2988T>G (p.Gly996=)
c.1299T>G (p.Gly433=)
1g.99891696G>ACA341326168AGLc.3040G>A (p.Ala1014Thr)
n.3251G>A
c.2992G>A (p.Ala998Thr)
c.2989G>A (p.Ala997Thr)
c.1300G>A (p.Ala434Thr)
 ClinVar dbSNP gnomAD v4
1g.99891696G>CCA341326173AGLc.3040G>C (p.Ala1014Pro)
n.3251G>C
c.2992G>C (p.Ala998Pro)
c.2989G>C (p.Ala997Pro)
c.1300G>C (p.Ala434Pro)
1g.99891696G=CA1183933397AGLc.3040G= (p.Ala1014=)
n.3251G=
c.2992G= (p.Ala998=)
c.2989G= (p.Ala997=)
c.1300G= (p.Ala434=)
1g.99891696G>TCA341326171AGLc.3040G>T (p.Ala1014Ser)
n.3251G>T
c.2992G>T (p.Ala998Ser)
c.2989G>T (p.Ala997Ser)
c.1300G>T (p.Ala434Ser)
 gnomAD v4
1g.99891697C>ACA341326176AGLc.3041C>A (p.Ala1014Glu)
n.3252C>A
c.2993C>A (p.Ala998Glu)
c.2990C>A (p.Ala997Glu)
c.1301C>A (p.Ala434Glu)
1g.99891697C=CA1183933398AGLc.3041C= (p.Ala1014=)
n.3252C=
c.2993C= (p.Ala998=)
c.2990C= (p.Ala997=)
c.1301C= (p.Ala434=)
1g.99891697C>GCA341326179AGLc.3041C>G (p.Ala1014Gly)
n.3252C>G
c.2993C>G (p.Ala998Gly)
c.2990C>G (p.Ala997Gly)
c.1301C>G (p.Ala434Gly)
1g.99891697C>TCA341326181AGLc.3041C>T (p.Ala1014Val)
n.3252C>T
c.2993C>T (p.Ala998Val)
c.2990C>T (p.Ala997Val)
c.1301C>T (p.Ala434Val)
 dbSNP gnomAD v2 gnomAD v4
1g.99891698A=CA1143890856AGLc.3042A= (p.Ala1014=)
n.3253A=
c.2994A= (p.Ala998=)
c.2991A= (p.Ala997=)
c.1302A= (p.Ala434=)
1g.99891698A>CCA419314576AGLc.3042A>C (p.Ala1014=)
n.3253A>C
c.2994A>C (p.Ala998=)
c.2991A>C (p.Ala997=)
c.1302A>C (p.Ala434=)
1g.99891698A>GCA27526968AGLc.3042A>G (p.Ala1014=)
n.3253A>G
c.2994A>G (p.Ala998=)
c.2991A>G (p.Ala997=)
c.1302A>G (p.Ala434=)
 ClinVar dbSNP gnomAD v4
1g.99891698A>TCA419314575AGLc.3042A>T (p.Ala1014=)
n.3253A>T
c.2994A>T (p.Ala998=)
c.2991A>T (p.Ala997=)
c.1302A>T (p.Ala434=)
1g.99891699T>ACA341326186AGLc.3043T>A (p.Tyr1015Asn)
n.3254T>A
c.2995T>A (p.Tyr999Asn)
c.2992T>A (p.Tyr998Asn)
c.1303T>A (p.Tyr435Asn)
1g.99891699T>CCA341326188AGLc.3043T>C (p.Tyr1015His)
n.3254T>C
c.2995T>C (p.Tyr999His)
c.2992T>C (p.Tyr998His)
c.1303T>C (p.Tyr435His)
1g.99891699T>GCA341326190AGLc.3043T>G (p.Tyr1015Asp)
n.3254T>G
c.2995T>G (p.Tyr999Asp)
c.2992T>G (p.Tyr998Asp)
c.1303T>G (p.Tyr435Asp)
1g.99891700A=CA1183933399AGLc.3044A= (p.Tyr1015=)
n.3255A=
c.2996A= (p.Tyr999=)
c.2993A= (p.Tyr998=)
c.1304A= (p.Tyr435=)
1g.99891700A>CCA341326193AGLc.3044A>C (p.Tyr1015Ser)
n.3255A>C
c.2996A>C (p.Tyr999Ser)
c.2993A>C (p.Tyr998Ser)
c.1304A>C (p.Tyr435Ser)
1g.99891700A>GCA966954AGLc.3044A>G (p.Tyr1015Cys)
n.3255A>G
c.2996A>G (p.Tyr999Cys)
c.2993A>G (p.Tyr998Cys)
c.1304A>G (p.Tyr435Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.99891700A>TCA341326198AGLc.3044A>T (p.Tyr1015Phe)
n.3255A>T
c.2996A>T (p.Tyr999Phe)
c.2993A>T (p.Tyr998Phe)
c.1304A>T (p.Tyr435Phe)
1g.99891701T>ACA341326202AGLc.3045T>A (p.Tyr1015Ter)
n.3256T>A
c.2997T>A (p.Tyr999Ter)
c.2994T>A (p.Tyr998Ter)
c.1305T>A (p.Tyr435Ter)
1g.99891701T>CCA419314577AGLc.3045T>C (p.Tyr1015=)
n.3256T>C
c.2997T>C (p.Tyr999=)
c.2994T>C (p.Tyr998=)
c.1305T>C (p.Tyr435=)
1g.99891701T>GCA341326204AGLc.3045T>G (p.Tyr1015Ter)
n.3256T>G
c.2997T>G (p.Tyr999Ter)
c.2994T>G (p.Tyr998Ter)
c.1305T>G (p.Tyr435Ter)
1g.99891701_99891704dupCA2586967006AGLc.3045_3048dup (p.Thr1017TyrfsTer?)
n.3256_3259dup
c.2997_3000dup (p.Thr1001TyrfsTer?)
c.2994_2997dup (p.Thr1000TyrfsTer?)
c.1305_1308dup (p.Thr437TyrfsTer?)
1g.99891702A=CA1183933400AGLc.3046A= (p.Thr1016=)
n.3257A=
c.2998A= (p.Thr1000=)
c.2995A= (p.Thr999=)
c.1306A= (p.Thr436=)
1g.99891702A>CCA341326211AGLc.3046A>C (p.Thr1016Pro)
n.3257A>C
c.2998A>C (p.Thr1000Pro)
c.2995A>C (p.Thr999Pro)
c.1306A>C (p.Thr436Pro)
1g.99891702A>GCA341326207AGLc.3046A>G (p.Thr1016Ala)
n.3257A>G
c.2998A>G (p.Thr1000Ala)
c.2995A>G (p.Thr999Ala)
c.1306A>G (p.Thr436Ala)
1g.99891702A>TCA341326208AGLc.3046A>T (p.Thr1016Ser)
n.3257A>T
c.2998A>T (p.Thr1000Ser)
c.2995A>T (p.Thr999Ser)
c.1306A>T (p.Thr436Ser)
 ClinVar dbSNP gnomAD v4
1g.99891703C>ACA341326213AGLc.3047C>A (p.Thr1016Asn)
n.3258C>A
c.2999C>A (p.Thr1000Asn)
c.2996C>A (p.Thr999Asn)
c.1307C>A (p.Thr436Asn)
1g.99891703C=CA1183933401AGLc.3047C= (p.Thr1016=)
n.3258C=
c.2999C= (p.Thr1000=)
c.2996C= (p.Thr999=)
c.1307C= (p.Thr436=)
1g.99891703C>GCA341326214AGLc.3047C>G (p.Thr1016Ser)
n.3258C>G
c.2999C>G (p.Thr1000Ser)
c.2996C>G (p.Thr999Ser)
c.1307C>G (p.Thr436Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99891703C>TCA341326216AGLc.3047C>T (p.Thr1016Ile)
n.3258C>T
c.2999C>T (p.Thr1000Ile)
c.2996C>T (p.Thr999Ile)
c.1307C>T (p.Thr436Ile)
1g.99891704C>ACA419314578AGLc.3048C>A (p.Thr1016=)
n.3259C>A
c.3000C>A (p.Thr1000=)
c.2997C>A (p.Thr999=)
c.1308C>A (p.Thr436=)
1g.99891704C=CA1183933402AGLc.3048C= (p.Thr1016=)
n.3259C=
c.3000C= (p.Thr1000=)
c.2997C= (p.Thr999=)
c.1308C= (p.Thr436=)
1g.99891704C>GCA419314579AGLc.3048C>G (p.Thr1016=)
n.3259C>G
c.3000C>G (p.Thr1000=)
c.2997C>G (p.Thr999=)
c.1308C>G (p.Thr436=)
1g.99891704C>TCA966955AGLc.3048C>T (p.Thr1016=)
n.3259C>T
c.3000C>T (p.Thr1000=)
c.2997C>T (p.Thr999=)
c.1308C>T (p.Thr436=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99891705A=CA1144763978AGLc.3049A= (p.Thr1017=)
n.3260A=
c.3001A= (p.Thr1001=)
c.2998A= (p.Thr1000=)
c.1309A= (p.Thr437=)
1g.99891705A>CCA341326232AGLc.3049A>C (p.Thr1017Pro)
n.3260A>C
c.3001A>C (p.Thr1001Pro)
c.2998A>C (p.Thr1000Pro)
c.1309A>C (p.Thr437Pro)
1g.99891705A>GCA341326234AGLc.3049A>G (p.Thr1017Ala)
n.3260A>G
c.3001A>G (p.Thr1001Ala)
c.2998A>G (p.Thr1000Ala)
c.1309A>G (p.Thr437Ala)
 ClinVar dbSNP
1g.99891705A>TCA966956AGLc.3049A>T (p.Thr1017Ser)
n.3260A>T
c.3001A>T (p.Thr1001Ser)
c.2998A>T (p.Thr1000Ser)
c.1309A>T (p.Thr437Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99891705dupCA524878282AGLc.3049dup (p.Thr1017AsnfsTer?)
n.3260dup
c.3001dup (p.Thr1001AsnfsTer?)
c.2998dup (p.Thr1000AsnfsTer?)
c.1309dup (p.Thr437AsnfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99891706C>ACA341326238AGLc.3050C>A (p.Thr1017Asn)
n.3261C>A
c.3002C>A (p.Thr1001Asn)
c.2999C>A (p.Thr1000Asn)
c.1310C>A (p.Thr437Asn)
1g.99891706C>GCA341326240AGLc.3050C>G (p.Thr1017Ser)
n.3261C>G
c.3002C>G (p.Thr1001Ser)
c.2999C>G (p.Thr1000Ser)
c.1310C>G (p.Thr437Ser)
1g.99891706C>TCA341326242AGLc.3050C>T (p.Thr1017Ile)
n.3261C>T
c.3002C>T (p.Thr1001Ile)
c.2999C>T (p.Thr1000Ile)
c.1310C>T (p.Thr437Ile)
 gnomAD v4
1g.99891708_99891709delCA2744755895AGLc.3052_3053del (p.Leu1018SerfsTer?)
n.3263_3264del
c.3004_3005del (p.Leu1002SerfsTer?)
c.3001_3002del (p.Leu1001SerfsTer?)
c.1312_1313del (p.Leu438SerfsTer?)
1g.99891707T>ACA419314580AGLc.3051T>A (p.Thr1017=)
n.3262T>A
c.3003T>A (p.Thr1001=)
c.3000T>A (p.Thr1000=)
c.1311T>A (p.Thr437=)
1g.99891707T>CCA419314581AGLc.3051T>C (p.Thr1017=)
n.3262T>C
c.3003T>C (p.Thr1001=)
c.3000T>C (p.Thr1000=)
c.1311T>C (p.Thr437=)
1g.99891707T>GCA419314582AGLc.3051T>G (p.Thr1017=)
n.3262T>G
c.3003T>G (p.Thr1001=)
c.3000T>G (p.Thr1000=)
c.1311T>G (p.Thr437=)
1g.99891708C>ACA341326244AGLc.3052C>A (p.Leu1018Ile)
n.3263C>A
c.3004C>A (p.Leu1002Ile)
c.3001C>A (p.Leu1001Ile)
c.1312C>A (p.Leu438Ile)
 gnomAD v4
1g.99891708C>GCA341326246AGLc.3052C>G (p.Leu1018Val)
n.3263C>G
c.3004C>G (p.Leu1002Val)
c.3001C>G (p.Leu1001Val)
c.1312C>G (p.Leu438Val)
1g.99891708C>TCA341326248AGLc.3052C>T (p.Leu1018Phe)
n.3263C>T
c.3004C>T (p.Leu1002Phe)
c.3001C>T (p.Leu1001Phe)
c.1312C>T (p.Leu438Phe)
 gnomAD v4 COSMIC
1g.99891709T>ACA341326259AGLc.3053T>A (p.Leu1018His)
n.3264T>A
c.3005T>A (p.Leu1002His)
c.3002T>A (p.Leu1001His)
c.1313T>A (p.Leu438His)
1g.99891709T>CCA341326256AGLc.3053T>C (p.Leu1018Pro)
n.3264T>C
c.3005T>C (p.Leu1002Pro)
c.3002T>C (p.Leu1001Pro)
c.1313T>C (p.Leu438Pro)
1g.99891709T>GCA341326253AGLc.3053T>G (p.Leu1018Arg)
n.3264T>G
c.3005T>G (p.Leu1002Arg)
c.3002T>G (p.Leu1001Arg)
c.1313T>G (p.Leu438Arg)
1g.99891710_99891773delCA2739272699AGLc.3054_3083+34del
n.3265_3294+34del
c.3006_3035+34del
c.3003_3032+34del
c.1314_1343+34del
 ClinVar
1g.99891710T>ACA419314583AGLc.3054T>A (p.Leu1018=)
n.3265T>A
c.3006T>A (p.Leu1002=)
c.3003T>A (p.Leu1001=)
c.1314T>A (p.Leu438=)
1g.99891710T>CCA419314585AGLc.3054T>C (p.Leu1018=)
n.3265T>C
c.3006T>C (p.Leu1002=)
c.3003T>C (p.Leu1001=)
c.1314T>C (p.Leu438=)
1g.99891710T>GCA419314584AGLc.3054T>G (p.Leu1018=)
n.3265T>G
c.3006T>G (p.Leu1002=)
c.3003T>G (p.Leu1001=)
c.1314T>G (p.Leu438=)
1g.99891711C>ACA341326261AGLc.3055C>A (p.Leu1019Met)
n.3266C>A
c.3007C>A (p.Leu1003Met)
c.3004C>A (p.Leu1002Met)
c.1315C>A (p.Leu439Met)
1g.99891711C>GCA341326263AGLc.3055C>G (p.Leu1019Val)
n.3266C>G
c.3007C>G (p.Leu1003Val)
c.3004C>G (p.Leu1002Val)
c.1315C>G (p.Leu439Val)
1g.99891711C>TCA419314586AGLc.3055C>T (p.Leu1019=)
n.3266C>T
c.3007C>T (p.Leu1003=)
c.3004C>T (p.Leu1002=)
c.1315C>T (p.Leu439=)
1g.99891712T>ACA341326265AGLc.3056T>A (p.Leu1019Gln)
n.3267T>A
c.3008T>A (p.Leu1003Gln)
c.3005T>A (p.Leu1002Gln)
c.1316T>A (p.Leu439Gln)
1g.99891712T>CCA341326268AGLc.3056T>C (p.Leu1019Pro)
n.3267T>C
c.3008T>C (p.Leu1003Pro)
c.3005T>C (p.Leu1002Pro)
c.1316T>C (p.Leu439Pro)
1g.99891712T>GCA341326270AGLc.3056T>G (p.Leu1019Arg)
n.3267T>G
c.3008T>G (p.Leu1003Arg)
c.3005T>G (p.Leu1002Arg)
c.1316T>G (p.Leu439Arg)
 gnomAD v4
1g.99891713G>ACA419084439AGLc.3057G>A (p.Leu1019=)
n.3268G>A
c.3009G>A (p.Leu1003=)
c.3006G>A (p.Leu1002=)
c.1317G>A (p.Leu439=)
1g.99891713G>CCA419084440AGLc.3057G>C (p.Leu1019=)
n.3268G>C
c.3009G>C (p.Leu1003=)
c.3006G>C (p.Leu1002=)
c.1317G>C (p.Leu439=)
1g.99891713G>TCA419084442AGLc.3057G>T (p.Leu1019=)
n.3268G>T
c.3009G>T (p.Leu1003=)
c.3006G>T (p.Leu1002=)
c.1317G>T (p.Leu439=)
1g.99891714G>ACA341326273AGLc.3058G>A (p.Asp1020Asn)
n.3269G>A
c.3010G>A (p.Asp1004Asn)
c.3007G>A (p.Asp1003Asn)
c.1318G>A (p.Asp440Asn)
1g.99891714G>CCA341326276AGLc.3058G>C (p.Asp1020His)
n.3269G>C
c.3010G>C (p.Asp1004His)
c.3007G>C (p.Asp1003His)
c.1318G>C (p.Asp440His)
1g.99891714G>TCA341326277AGLc.3058G>T (p.Asp1020Tyr)
n.3269G>T
c.3010G>T (p.Asp1004Tyr)
c.3007G>T (p.Asp1003Tyr)
c.1318G>T (p.Asp440Tyr)
1g.99891715A=CA1183933403AGLc.3059A= (p.Asp1020=)
n.3270A=
c.3011A= (p.Asp1004=)
c.3008A= (p.Asp1003=)
c.1319A= (p.Asp440=)
1g.99891715A>CCA341326279AGLc.3059A>C (p.Asp1020Ala)
n.3270A>C
c.3011A>C (p.Asp1004Ala)
c.3008A>C (p.Asp1003Ala)
c.1319A>C (p.Asp440Ala)
1g.99891715A>GCA341326282AGLc.3059A>G (p.Asp1020Gly)
n.3270A>G
c.3011A>G (p.Asp1004Gly)
c.3008A>G (p.Asp1003Gly)
c.1319A>G (p.Asp440Gly)
 gnomAD v4
1g.99891715A>TCA341326283AGLc.3059A>T (p.Asp1020Val)
n.3270A>T
c.3011A>T (p.Asp1004Val)
c.3008A>T (p.Asp1003Val)
c.1319A>T (p.Asp440Val)
 dbSNP gnomAD v2 gnomAD v4
1g.99891716T>ACA341326284AGLc.3060T>A (p.Asp1020Glu)
n.3271T>A
c.3012T>A (p.Asp1004Glu)
c.3009T>A (p.Asp1003Glu)
c.1320T>A (p.Asp440Glu)
1g.99891716T>CCA419084454AGLc.3060T>C (p.Asp1020=)
n.3271T>C
c.3012T>C (p.Asp1004=)
c.3009T>C (p.Asp1003=)
c.1320T>C (p.Asp440=)
 ClinVar
1g.99891716T>GCA341326285AGLc.3060T>G (p.Asp1020Glu)
n.3271T>G
c.3012T>G (p.Asp1004Glu)
c.3009T>G (p.Asp1003Glu)
c.1320T>G (p.Asp440Glu)
1g.99891717A>CCA341326288AGLc.3061A>C (p.Thr1021Pro)
n.3272A>C
c.3013A>C (p.Thr1005Pro)
c.3010A>C (p.Thr1004Pro)
c.1321A>C (p.Thr441Pro)
1g.99891717A>GCA341326289AGLc.3061A>G (p.Thr1021Ala)
n.3272A>G
c.3013A>G (p.Thr1005Ala)
c.3010A>G (p.Thr1004Ala)
c.1321A>G (p.Thr441Ala)
1g.99891717A>TCA341326287AGLc.3061A>T (p.Thr1021Ser)
n.3272A>T
c.3013A>T (p.Thr1005Ser)
c.3010A>T (p.Thr1004Ser)
c.1321A>T (p.Thr441Ser)
1g.99891718C>ACA341326291AGLc.3062C>A (p.Thr1021Lys)
n.3273C>A
c.3014C>A (p.Thr1005Lys)
c.3011C>A (p.Thr1004Lys)
c.1322C>A (p.Thr441Lys)
1g.99891718C>GCA341326294AGLc.3062C>G (p.Thr1021Arg)
n.3273C>G
c.3014C>G (p.Thr1005Arg)
c.3011C>G (p.Thr1004Arg)
c.1322C>G (p.Thr441Arg)
1g.99891718C>TCA341326297AGLc.3062C>T (p.Thr1021Ile)
n.3273C>T
c.3014C>T (p.Thr1005Ile)
c.3011C>T (p.Thr1004Ile)
c.1322C>T (p.Thr441Ile)
 gnomAD v4
1g.99891719A=CA1183933404AGLc.3063A= (p.Thr1021=)
n.3274A=
c.3015A= (p.Thr1005=)
c.3012A= (p.Thr1004=)
c.1323A= (p.Thr441=)
1g.99891719A>CCA419084457AGLc.3063A>C (p.Thr1021=)
n.3274A>C
c.3015A>C (p.Thr1005=)
c.3012A>C (p.Thr1004=)
c.1323A>C (p.Thr441=)
1g.99891719A>GCA966957AGLc.3063A>G (p.Thr1021=)
n.3274A>G
c.3015A>G (p.Thr1005=)
c.3012A>G (p.Thr1004=)
c.1323A>G (p.Thr441=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99891719A>TCA419084456AGLc.3063A>T (p.Thr1021=)
n.3274A>T
c.3015A>T (p.Thr1005=)
c.3012A>T (p.Thr1004=)
c.1323A>T (p.Thr441=)
1g.99891720G>ACA341326300AGLc.3064G>A (p.Ala1022Thr)
n.3275G>A
c.3016G>A (p.Ala1006Thr)
c.3013G>A (p.Ala1005Thr)
c.1324G>A (p.Ala442Thr)
1g.99891720G>CCA341326302AGLc.3064G>C (p.Ala1022Pro)
n.3275G>C
c.3016G>C (p.Ala1006Pro)
c.3013G>C (p.Ala1005Pro)
c.1324G>C (p.Ala442Pro)
1g.99891720G>TCA341326304AGLc.3064G>T (p.Ala1022Ser)
n.3275G>T
c.3016G>T (p.Ala1006Ser)
c.3013G>T (p.Ala1005Ser)
c.1324G>T (p.Ala442Ser)
1g.99891721C>ACA341326307AGLc.3065C>A (p.Ala1022Glu)
n.3276C>A
c.3017C>A (p.Ala1006Glu)
c.3014C>A (p.Ala1005Glu)
c.1325C>A (p.Ala442Glu)
1g.99891721C=CA1183933405AGLc.3065C= (p.Ala1022=)
n.3276C=
c.3017C= (p.Ala1006=)
c.3014C= (p.Ala1005=)
c.1325C= (p.Ala442=)
1g.99891721C>GCA341326309AGLc.3065C>G (p.Ala1022Gly)
n.3276C>G
c.3017C>G (p.Ala1006Gly)
c.3014C>G (p.Ala1005Gly)
c.1325C>G (p.Ala442Gly)
1g.99891721C>TCA341326310AGLc.3065C>T (p.Ala1022Val)
n.3276C>T
c.3017C>T (p.Ala1006Val)
c.3014C>T (p.Ala1005Val)
c.1325C>T (p.Ala442Val)
 dbSNP gnomAD v2 gnomAD v4
1g.99891722A=CA1183933406AGLc.3066A= (p.Ala1022=)
n.3277A=
c.3018A= (p.Ala1006=)
c.3015A= (p.Ala1005=)
c.1326A= (p.Ala442=)
1g.99891722A>CCA419084461AGLc.3066A>C (p.Ala1022=)
n.3277A>C
c.3018A>C (p.Ala1006=)
c.3015A>C (p.Ala1005=)
c.1326A>C (p.Ala442=)
1g.99891722A>GCA27526993AGLc.3066A>G (p.Ala1022=)
n.3277A>G
c.3018A>G (p.Ala1006=)
c.3015A>G (p.Ala1005=)
c.1326A>G (p.Ala442=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99891722A>TCA419084464AGLc.3066A>T (p.Ala1022=)
n.3277A>T
c.3018A>T (p.Ala1006=)
c.3015A>T (p.Ala1005=)
c.1326A>T (p.Ala442=)
1g.99891723T>ACA341326312AGLc.3067T>A (p.Trp1023Arg)
n.3278T>A
c.3019T>A (p.Trp1007Arg)
c.3016T>A (p.Trp1006Arg)
c.1327T>A (p.Trp443Arg)
1g.99891723T>CCA341326315AGLc.3067T>C (p.Trp1023Arg)
n.3278T>C
c.3019T>C (p.Trp1007Arg)
c.3016T>C (p.Trp1006Arg)
c.1327T>C (p.Trp443Arg)
 dbSNP gnomAD v2
1g.99891723T>GCA27527003AGLc.3067T>G (p.Trp1023Gly)
n.3278T>G
c.3019T>G (p.Trp1007Gly)
c.3016T>G (p.Trp1006Gly)
c.1327T>G (p.Trp443Gly)
 dbSNP
1g.99891723T=CA1183933407AGLc.3067T= (p.Trp1023=)
n.3278T=
c.3019T= (p.Trp1007=)
c.3016T= (p.Trp1006=)
c.1327T= (p.Trp443=)
1g.99891724G>ACA341326324AGLc.3068G>A (p.Trp1023Ter)
n.3279G>A
c.3020G>A (p.Trp1007Ter)
c.3017G>A (p.Trp1006Ter)
c.1328G>A (p.Trp443Ter)
1g.99891724G>CCA341326322AGLc.3068G>C (p.Trp1023Ser)
n.3279G>C
c.3020G>C (p.Trp1007Ser)
c.3017G>C (p.Trp1006Ser)
c.1328G>C (p.Trp443Ser)
1g.99891724G>TCA341326319AGLc.3068G>T (p.Trp1023Leu)
n.3279G>T
c.3020G>T (p.Trp1007Leu)
c.3017G>T (p.Trp1006Leu)
c.1328G>T (p.Trp443Leu)
1g.99891725G>ACA341326327AGLc.3069G>A (p.Trp1023Ter)
n.3280G>A
c.3021G>A (p.Trp1007Ter)
c.3018G>A (p.Trp1006Ter)
c.1329G>A (p.Trp443Ter)
 dbSNP
1g.99891725G>CCA341326329AGLc.3069G>C (p.Trp1023Cys)
n.3280G>C
c.3021G>C (p.Trp1007Cys)
c.3018G>C (p.Trp1006Cys)
c.1329G>C (p.Trp443Cys)
1g.99891725G=CA1183933408AGLc.3069G= (p.Trp1023=)
n.3280G=
c.3021G= (p.Trp1007=)
c.3018G= (p.Trp1006=)
c.1329G= (p.Trp443=)
1g.99891725G>TCA341326330AGLc.3069G>T (p.Trp1023Cys)
n.3280G>T
c.3021G>T (p.Trp1007Cys)
c.3018G>T (p.Trp1006Cys)
c.1329G>T (p.Trp443Cys)
1g.99891726A>CCA341326334AGLc.3070A>C (p.Lys1024Gln)
n.3281A>C
c.3022A>C (p.Lys1008Gln)
c.3019A>C (p.Lys1007Gln)
c.1330A>C (p.Lys444Gln)
1g.99891726A>GCA341326336AGLc.3070A>G (p.Lys1024Glu)
n.3281A>G
c.3022A>G (p.Lys1008Glu)
c.3019A>G (p.Lys1007Glu)
c.1330A>G (p.Lys444Glu)
1g.99891726A>TCA341326339AGLc.3070A>T (p.Lys1024Ter)
n.3281A>T
c.3022A>T (p.Lys1008Ter)
c.3019A>T (p.Lys1007Ter)
c.1330A>T (p.Lys444Ter)
1g.99891727A=CA1183933409AGLc.3071A= (p.Lys1024=)
n.3282A=
c.3023A= (p.Lys1008=)
c.3020A= (p.Lys1007=)
c.1331A= (p.Lys444=)
1g.99891727A>CCA341326341AGLc.3071A>C (p.Lys1024Thr)
n.3282A>C
c.3023A>C (p.Lys1008Thr)
c.3020A>C (p.Lys1007Thr)
c.1331A>C (p.Lys444Thr)
1g.99891727A>GCA966958AGLc.3071A>G (p.Lys1024Arg)
n.3282A>G
c.3023A>G (p.Lys1008Arg)
c.3020A>G (p.Lys1007Arg)
c.1331A>G (p.Lys444Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99891727A>TCA341326343AGLc.3071A>T (p.Lys1024Met)
n.3282A>T
c.3023A>T (p.Lys1008Met)
c.3020A>T (p.Lys1007Met)
c.1331A>T (p.Lys444Met)
1g.99891728G>ACA419084468AGLc.3072G>A (p.Lys1024=)
n.3283G>A
c.3024G>A (p.Lys1008=)
c.3021G>A (p.Lys1007=)
c.1332G>A (p.Lys444=)
 ClinVar
1g.99891728G>CCA341326346AGLc.3072G>C (p.Lys1024Asn)
n.3283G>C
c.3024G>C (p.Lys1008Asn)
c.3021G>C (p.Lys1007Asn)
c.1332G>C (p.Lys444Asn)
1g.99891728G>TCA341326347AGLc.3072G>T (p.Lys1024Asn)
n.3283G>T
c.3024G>T (p.Lys1008Asn)
c.3021G>T (p.Lys1007Asn)
c.1332G>T (p.Lys444Asn)
1g.99891729C>ACA341326349AGLc.3073C>A (p.Gln1025Lys)
n.3284C>A
c.3025C>A (p.Gln1009Lys)
c.3022C>A (p.Gln1008Lys)
c.1333C>A (p.Gln445Lys)
1g.99891729C>GCA341326351AGLc.3073C>G (p.Gln1025Glu)
n.3284C>G
c.3025C>G (p.Gln1009Glu)
c.3022C>G (p.Gln1008Glu)
c.1333C>G (p.Gln445Glu)
1g.99891729C>TCA341326352AGLc.3073C>T (p.Gln1025Ter)
n.3284C>T
c.3025C>T (p.Gln1009Ter)
c.3022C>T (p.Gln1008Ter)
c.1333C>T (p.Gln445Ter)
1g.99891730A>CCA341326356AGLc.3074A>C (p.Gln1025Pro)
n.3285A>C
c.3026A>C (p.Gln1009Pro)
c.3023A>C (p.Gln1008Pro)
c.1334A>C (p.Gln445Pro)
1g.99891730A>GCA341326362AGLc.3074A>G (p.Gln1025Arg)
n.3285A>G
c.3026A>G (p.Gln1009Arg)
c.3023A>G (p.Gln1008Arg)
c.1334A>G (p.Gln445Arg)
 gnomAD v4
1g.99891730A>TCA341326355AGLc.3074A>T (p.Gln1025Leu)
n.3285A>T
c.3026A>T (p.Gln1009Leu)
c.3023A>T (p.Gln1008Leu)
c.1334A>T (p.Gln445Leu)
1g.99891731_99891732delCA2646737625AGLc.3075_3076del (p.Gln1025HisfsTer?)
n.3286_3287del
c.3027_3028del (p.Gln1009HisfsTer?)
c.3024_3025del (p.Gln1008HisfsTer?)
c.1335_1336del (p.Gln445HisfsTer?)
 gnomAD v4
1g.99891731G>ACA419084470AGLc.3075G>A (p.Gln1025=)
n.3286G>A
c.3027G>A (p.Gln1009=)
c.3024G>A (p.Gln1008=)
c.1335G>A (p.Gln445=)
1g.99891731G>CCA341326364AGLc.3075G>C (p.Gln1025His)
n.3286G>C
c.3027G>C (p.Gln1009His)
c.3024G>C (p.Gln1008His)
c.1335G>C (p.Gln445His)
 gnomAD v4
1g.99891731G>TCA341326366AGLc.3075G>T (p.Gln1025His)
n.3286G>T
c.3027G>T (p.Gln1009His)
c.3024G>T (p.Gln1008His)
c.1335G>T (p.Gln445His)
1g.99891732A>CCA341326368AGLc.3076A>C (p.Met1026Leu)
n.3287A>C
c.3028A>C (p.Met1010Leu)
c.3025A>C (p.Met1009Leu)
c.1336A>C (p.Met446Leu)
1g.99891732A>GCA341326369AGLc.3076A>G (p.Met1026Val)
n.3287A>G
c.3028A>G (p.Met1010Val)
c.3025A>G (p.Met1009Val)
c.1336A>G (p.Met446Val)
1g.99891732A>TCA341326371AGLc.3076A>T (p.Met1026Leu)
n.3287A>T
c.3028A>T (p.Met1010Leu)
c.3025A>T (p.Met1009Leu)
c.1336A>T (p.Met446Leu)
1g.99891733T>ACA341326373AGLc.3077T>A (p.Met1026Lys)
n.3288T>A
c.3029T>A (p.Met1010Lys)
c.3026T>A (p.Met1009Lys)
c.1337T>A (p.Met446Lys)
1g.99891733T>CCA341326374AGLc.3077T>C (p.Met1026Thr)
n.3288T>C
c.3029T>C (p.Met1010Thr)
c.3026T>C (p.Met1009Thr)
c.1337T>C (p.Met446Thr)
 ClinVar dbSNP gnomAD v4
1g.99891733T>GCA341326376AGLc.3077T>G (p.Met1026Arg)
n.3288T>G
c.3029T>G (p.Met1010Arg)
c.3026T>G (p.Met1009Arg)
c.1337T>G (p.Met446Arg)
1g.99891733T=CA1183933410AGLc.3077T= (p.Met1026=)
n.3288T=
c.3029T= (p.Met1010=)
c.3026T= (p.Met1009=)
c.1337T= (p.Met446=)

Number of alleles fetched