Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232542892G>ACA2168750CHRNGc.615G>A (p.Glu205=)
c.459G>A (p.Glu153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542892G>CCA351011491CHRNGc.615G>C (p.Glu205Asp)
c.459G>C (p.Glu153Asp)
2g.232542892G=CA1335317468CHRNGc.615G= (p.Glu205=)
c.459G= (p.Glu153=)
2g.232542892G>TCA351011492CHRNGc.615G>T (p.Glu205Asp)
c.459G>T (p.Glu153Asp)
2g.232542893T>ACA351011493CHRNGc.616T>A (p.Trp206Arg)
c.460T>A (p.Trp154Arg)
2g.232542893T>CCA351011495CHRNGc.616T>C (p.Trp206Arg)
c.460T>C (p.Trp154Arg)
2g.232542893T>GCA351011497CHRNGc.616T>G (p.Trp206Gly)
c.460T>G (p.Trp154Gly)
2g.232542894G>ACA351011501CHRNGc.617G>A (p.Trp206Ter)
c.461G>A (p.Trp154Ter)
 ClinVar gnomAD v4
2g.232542894G>CCA351011503CHRNGc.617G>C (p.Trp206Ser)
c.461G>C (p.Trp154Ser)
2g.232542894G>TCA351011499CHRNGc.617G>T (p.Trp206Leu)
c.461G>T (p.Trp154Leu)
2g.232542895G>ACA351011505CHRNGc.618G>A (p.Trp206Ter)
c.462G>A (p.Trp154Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.232542895G>CCA351011507CHRNGc.618G>C (p.Trp206Cys)
c.462G>C (p.Trp154Cys)
2g.232542895G=CA1335317469CHRNGc.618G= (p.Trp206=)
c.462G= (p.Trp154=)
2g.232542895G>TCA351011509CHRNGc.618G>T (p.Trp206Cys)
c.462G>T (p.Trp154Cys)
2g.232542896G>ACA351011511CHRNGc.619G>A (p.Ala207Thr)
c.463G>A (p.Ala155Thr)
2g.232542896G>CCA66968402CHRNGc.619G>C (p.Ala207Pro)
c.463G>C (p.Ala155Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232542896G=CA1335317470CHRNGc.619G= (p.Ala207=)
c.463G= (p.Ala155=)
2g.232542896G>TCA351011513CHRNGc.619G>T (p.Ala207Ser)
c.463G>T (p.Ala155Ser)
2g.232542897C>ACA351011515CHRNGc.620C>A (p.Ala207Asp)
c.464C>A (p.Ala155Asp)
2g.232542897C=CA1335317471CHRNGc.620C= (p.Ala207=)
c.464C= (p.Ala155=)
2g.232542897C>GCA351011516CHRNGc.620C>G (p.Ala207Gly)
c.464C>G (p.Ala155Gly)
2g.232542897C>TCA2168751CHRNGc.620C>T (p.Ala207Val)
c.464C>T (p.Ala155Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542898C>ACA431810820CHRNGc.621C>A (p.Ala207=)
c.465C>A (p.Ala155=)
2g.232542898C>GCA431810821CHRNGc.621C>G (p.Ala207=)
c.465C>G (p.Ala155=)
2g.232542898C>TCA431810823CHRNGc.621C>T (p.Ala207=)
c.465C>T (p.Ala155=)
2g.232542899A=CA1335317472CHRNGc.622A= (p.Ile208=)
c.466A= (p.Ile156=)
2g.232542899A>CCA351011517CHRNGc.622A>C (p.Ile208Leu)
c.466A>C (p.Ile156Leu)
2g.232542899A>GCA66968412CHRNGc.622A>G (p.Ile208Val)
c.466A>G (p.Ile156Val)
 dbSNP gnomAD v4
2g.232542899A>TCA351011520CHRNGc.622A>T (p.Ile208Phe)
c.466A>T (p.Ile156Phe)
2g.232542900T>ACA351011524CHRNGc.623T>A (p.Ile208Asn)
c.467T>A (p.Ile156Asn)
 gnomAD v4
2g.232542900T>CCA351011526CHRNGc.623T>C (p.Ile208Thr)
c.467T>C (p.Ile156Thr)
 dbSNP gnomAD v4
2g.232542900T>GCA351011522CHRNGc.623T>G (p.Ile208Ser)
c.467T>G (p.Ile156Ser)
 gnomAD v4
2g.232542900T=CA1335317473CHRNGc.623T= (p.Ile208=)
c.467T= (p.Ile156=)
2g.232542901C>ACA431810827CHRNGc.624C>A (p.Ile208=)
c.468C>A (p.Ile156=)
 ClinVar
2g.232542901C=CA1335317474CHRNGc.624C= (p.Ile208=)
c.468C= (p.Ile156=)
2g.232542901C>GCA351011528CHRNGc.624C>G (p.Ile208Met)
c.468C>G (p.Ile156Met)
2g.232542901C>TCA2168752CHRNGc.624C>T (p.Ile208=)
c.468C>T (p.Ile156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542902C>ACA351011531CHRNGc.625C>A (p.Gln209Lys)
c.469C>A (p.Gln157Lys)
2g.232542902C>GCA351011533CHRNGc.625C>G (p.Gln209Glu)
c.469C>G (p.Gln157Glu)
2g.232542902C>TCA351011534CHRNGc.625C>T (p.Gln209Ter)
c.469C>T (p.Gln157Ter)
 gnomAD v4
2g.232542903A>CCA351011539CHRNGc.626A>C (p.Gln209Pro)
c.470A>C (p.Gln157Pro)
2g.232542903A>GCA351011536CHRNGc.626A>G (p.Gln209Arg)
c.470A>G (p.Gln157Arg)
 gnomAD v4
2g.232542903A>TCA351011538CHRNGc.626A>T (p.Gln209Leu)
c.470A>T (p.Gln157Leu)
2g.232542904G>ACA431810828CHRNGc.627G>A (p.Gln209=)
c.471G>A (p.Gln157=)
2g.232542904G>CCA351011541CHRNGc.627G>C (p.Gln209His)
c.471G>C (p.Gln157His)
2g.232542904G>TCA351011543CHRNGc.627G>T (p.Gln209His)
c.471G>T (p.Gln157His)
 gnomAD v4
2g.232542905C>ACA351011545CHRNGc.628C>A (p.His210Asn)
c.472C>A (p.His158Asn)
 gnomAD v4
2g.232542905C>GCA351011546CHRNGc.628C>G (p.His210Asp)
c.472C>G (p.His158Asp)
2g.232542905C>TCA351011547CHRNGc.628C>T (p.His210Tyr)
c.472C>T (p.His158Tyr)
 gnomAD v4
2g.232542906A>CCA351011548CHRNGc.629A>C (p.His210Pro)
c.473A>C (p.His158Pro)
2g.232542906A>GCA351011550CHRNGc.629A>G (p.His210Arg)
c.473A>G (p.His158Arg)
2g.232542906A>TCA351011549CHRNGc.629A>T (p.His210Leu)
c.473A>T (p.His158Leu)
2g.232542907C>ACA351011551CHRNGc.630C>A (p.His210Gln)
c.474C>A (p.His158Gln)
 dbSNP
2g.232542907C=CA1335317475CHRNGc.630C= (p.His210=)
c.474C= (p.His158=)
2g.232542907C>GCA351011552CHRNGc.630C>G (p.His210Gln)
c.474C>G (p.His158Gln)
2g.232542907C>TCA431810832CHRNGc.630C>T (p.His210=)
c.474C>T (p.His158=)
2g.232542908C>ACA431810833CHRNGc.631C>A (p.Arg211=)
c.475C>A (p.Arg159=)
 ClinVar
2g.232542908C=CA1335317476CHRNGc.631C= (p.Arg211=)
c.475C= (p.Arg159=)
2g.232542908C>GCA351011553CHRNGc.631C>G (p.Arg211Gly)
c.475C>G (p.Arg159Gly)
2g.232542908C>TCA2168753CHRNGc.631C>T (p.Arg211Ter)
c.475C>T (p.Arg159Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542909G>ACA2168754CHRNGc.632G>A (p.Arg211Gln)
c.476G>A (p.Arg159Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232542909G>CCA2168755CHRNGc.632G>C (p.Arg211Pro)
c.476G>C (p.Arg159Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542909G=CA1335317477CHRNGc.632G= (p.Arg211=)
c.476G= (p.Arg159=)
2g.232542909G>TCA351011554CHRNGc.632G>T (p.Arg211Leu)
c.476G>T (p.Arg159Leu)
 gnomAD v4
2g.232542910A>CCA431810837CHRNGc.633A>C (p.Arg211=)
c.477A>C (p.Arg159=)
2g.232542910A>GCA431810838CHRNGc.633A>G (p.Arg211=)
c.477A>G (p.Arg159=)
2g.232542910A>TCA431810840CHRNGc.633A>T (p.Arg211=)
c.477A>T (p.Arg159=)
2g.232542911C>ACA351011555CHRNGc.634C>A (p.Pro212Thr)
c.478C>A (p.Pro160Thr)
2g.232542911C=CA1335317478CHRNGc.634C= (p.Pro212=)
c.478C= (p.Pro160=)
2g.232542911C>GCA351011556CHRNGc.634C>G (p.Pro212Ala)
c.478C>G (p.Pro160Ala)
2g.232542911C>TCA351011557CHRNGc.634C>T (p.Pro212Ser)
c.478C>T (p.Pro160Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.232542912C>ACA351011558CHRNGc.635C>A (p.Pro212Gln)
c.479C>A (p.Pro160Gln)
2g.232542912C>GCA351011559CHRNGc.635C>G (p.Pro212Arg)
c.479C>G (p.Pro160Arg)
2g.232542912C>TCA351011560CHRNGc.635C>T (p.Pro212Leu)
c.479C>T (p.Pro160Leu)
2g.232542913A>CCA431810842CHRNGc.636A>C (p.Pro212=)
c.480A>C (p.Pro160=)
2g.232542913A>GCA431810843CHRNGc.636A>G (p.Pro212=)
c.480A>G (p.Pro160=)
2g.232542913A>TCA431810844CHRNGc.636A>T (p.Pro212=)
c.480A>T (p.Pro160=)
2g.232542914G>ACA2168756CHRNGc.637G>A (p.Ala213Thr)
c.481G>A (p.Ala161Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542914G>CCA351011561CHRNGc.637G>C (p.Ala213Pro)
c.481G>C (p.Ala161Pro)
2g.232542914G=CA1335317479CHRNGc.637G= (p.Ala213=)
c.481G= (p.Ala161=)
2g.232542914G>TCA351011562CHRNGc.637G>T (p.Ala213Ser)
c.481G>T (p.Ala161Ser)
2g.232542915C>ACA2168757CHRNGc.638C>A (p.Ala213Asp)
c.482C>A (p.Ala161Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542915C=CA1335317480CHRNGc.638C= (p.Ala213=)
c.482C= (p.Ala161=)
2g.232542915C>GCA351011564CHRNGc.638C>G (p.Ala213Gly)
c.482C>G (p.Ala161Gly)
2g.232542915C>TCA351011563CHRNGc.638C>T (p.Ala213Val)
c.482C>T (p.Ala161Val)
2g.232542915_232542920delinsCCAAGACA1335317481CHRNGc.638_643delinsCCAAGA (p.Ala213=)
c.482_487delinsCCAAGA (p.Ala161=)
2g.232542916C>ACA431810846CHRNGc.639C>A (p.Ala213=)
c.483C>A (p.Ala161=)
2g.232542916C>GCA431810847CHRNGc.639C>G (p.Ala213=)
c.483C>G (p.Ala161=)
2g.232542916C>TCA431810848CHRNGc.639C>T (p.Ala213=)
c.483C>T (p.Ala161=)
 gnomAD v4
2g.232542916_232542920delCA1335317482CHRNGc.639_643del (p.Lys214AlafsTer?)
c.483_487del (p.Lys162AlafsTer?)
 dbSNP
2g.232542917A=CA1335317483CHRNGc.640A= (p.Lys214=)
c.484A= (p.Lys162=)
2g.232542917A>CCA351011565CHRNGc.640A>C (p.Lys214Gln)
c.484A>C (p.Lys162Gln)
 gnomAD v4
2g.232542917A>GCA351011567CHRNGc.640A>G (p.Lys214Glu)
c.484A>G (p.Lys162Glu)
 dbSNP
2g.232542917A>TCA351011568CHRNGc.640A>T (p.Lys214Ter)
c.484A>T (p.Lys162Ter)
2g.232542918A>CCA351011570CHRNGc.641A>C (p.Lys214Thr)
c.485A>C (p.Lys162Thr)
2g.232542918A>GCA351011572CHRNGc.641A>G (p.Lys214Arg)
c.485A>G (p.Lys162Arg)
2g.232542918A>TCA351011574CHRNGc.641A>T (p.Lys214Met)
c.485A>T (p.Lys162Met)
2g.232542919G>ACA431810850CHRNGc.642G>A (p.Lys214=)
c.486G>A (p.Lys162=)
2g.232542919G>CCA351011576CHRNGc.642G>C (p.Lys214Asn)
c.486G>C (p.Lys162Asn)
2g.232542919G>TCA351011578CHRNGc.642G>T (p.Lys214Asn)
c.486G>T (p.Lys162Asn)
2g.232542920A>CCA351011579CHRNGc.643A>C (p.Met215Leu)
c.487A>C (p.Met163Leu)
2g.232542920A>GCA351011581CHRNGc.643A>G (p.Met215Val)
c.487A>G (p.Met163Val)
2g.232542920A>TCA351011583CHRNGc.643A>T (p.Met215Leu)
c.487A>T (p.Met163Leu)
2g.232542921T>ACA351011589CHRNGc.644T>A (p.Met215Lys)
c.488T>A (p.Met163Lys)
2g.232542921T>CCA2168758CHRNGc.644T>C (p.Met215Thr)
c.488T>C (p.Met163Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542921T>GCA351011587CHRNGc.644T>G (p.Met215Arg)
c.488T>G (p.Met163Arg)
2g.232542921T=CA1335317484CHRNGc.644T= (p.Met215=)
c.488T= (p.Met163=)
2g.232542922G>ACA351011592CHRNGc.645G>A (p.Met215Ile)
c.489G>A (p.Met163Ile)
2g.232542922G>CCA351011593CHRNGc.645G>C (p.Met215Ile)
c.489G>C (p.Met163Ile)
 dbSNP gnomAD v4
2g.232542922G=CA1335317485CHRNGc.645G= (p.Met215=)
c.489G= (p.Met163=)
2g.232542922G>TCA351011594CHRNGc.645G>T (p.Met215Ile)
c.489G>T (p.Met163Ile)
2g.232542923C>ACA351011596CHRNGc.646C>A (p.Leu216Ile)
c.490C>A (p.Leu164Ile)
2g.232542923C>GCA351011598CHRNGc.646C>G (p.Leu216Val)
c.490C>G (p.Leu164Val)
2g.232542923C>TCA351011600CHRNGc.646C>T (p.Leu216Phe)
c.490C>T (p.Leu164Phe)
2g.232542924T>ACA351011602CHRNGc.647T>A (p.Leu216His)
c.491T>A (p.Leu164His)
2g.232542924T>CCA351011604CHRNGc.647T>C (p.Leu216Pro)
c.491T>C (p.Leu164Pro)
2g.232542924T>GCA351011606CHRNGc.647T>G (p.Leu216Arg)
c.491T>G (p.Leu164Arg)
2g.232542925C>ACA431810859CHRNGc.648C>A (p.Leu216=)
c.492C>A (p.Leu164=)
2g.232542925C=CA1335317486CHRNGc.648C= (p.Leu216=)
c.492C= (p.Leu164=)
2g.232542925C>GCA431810860CHRNGc.648C>G (p.Leu216=)
c.492C>G (p.Leu164=)
2g.232542925C>TCA431810861CHRNGc.648C>T (p.Leu216=)
c.492C>T (p.Leu164=)
 dbSNP
2g.232542926C>ACA351011608CHRNGc.649C>A (p.Leu217Met)
c.493C>A (p.Leu165Met)
2g.232542926C>GCA351011610CHRNGc.649C>G (p.Leu217Val)
c.493C>G (p.Leu165Val)
 gnomAD v4
2g.232542926C>TCA431810863CHRNGc.649C>T (p.Leu217=)
c.493C>T (p.Leu165=)
2g.232542927T>ACA351011614CHRNGc.650T>A (p.Leu217Gln)
c.494T>A (p.Leu165Gln)
2g.232542927T>CCA2168759CHRNGc.650T>C (p.Leu217Pro)
c.494T>C (p.Leu165Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542927T>GCA351011613CHRNGc.650T>G (p.Leu217Arg)
c.494T>G (p.Leu165Arg)
2g.232542927T=CA1335317487CHRNGc.650T= (p.Leu217=)
c.494T= (p.Leu165=)
2g.232542928G>ACA431810864CHRNGc.651G>A (p.Leu217=)
c.495G>A (p.Leu165=)
 gnomAD v4
2g.232542928G>CCA431810865CHRNGc.651G>C (p.Leu217=)
c.495G>C (p.Leu165=)
2g.232542928G>TCA431810866CHRNGc.651G>T (p.Leu217=)
c.495G>T (p.Leu165=)
2g.232542929G>ACA351011627CHRNGc.652G>A (p.Asp218Asn)
c.496G>A (p.Asp166Asn)
2g.232542929G>CCA351011631CHRNGc.652G>C (p.Asp218His)
c.496G>C (p.Asp166His)
2g.232542929G=CA1335317488CHRNGc.652G= (p.Asp218=)
c.496G= (p.Asp166=)
2g.232542929G>TCA351011637CHRNGc.652G>T (p.Asp218Tyr)
c.496G>T (p.Asp166Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.232542930A>CCA351011640CHRNGc.653A>C (p.Asp218Ala)
c.497A>C (p.Asp166Ala)
2g.232542930A>GCA351011642CHRNGc.653A>G (p.Asp218Gly)
c.497A>G (p.Asp166Gly)
2g.232542930A>TCA351011643CHRNGc.653A>T (p.Asp218Val)
c.497A>T (p.Asp166Val)
2g.232542931C>ACA351011646CHRNGc.654C>A (p.Asp218Glu)
c.498C>A (p.Asp166Glu)
2g.232542931C=CA1335317489CHRNGc.654C= (p.Asp218=)
c.498C= (p.Asp166=)
2g.232542931C>GCA351011648CHRNGc.654C>G (p.Asp218Glu)
c.498C>G (p.Asp166Glu)
2g.232542931C>TCA431810868CHRNGc.654C>T (p.Asp218=)
c.498C>T (p.Asp166=)
 ClinVar dbSNP
2g.232542932C>ACA351011651CHRNGc.655C>A (p.Pro219Thr)
c.499C>A (p.Pro167Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.232542932C=CA1335317490CHRNGc.655C= (p.Pro219=)
c.499C= (p.Pro167=)
2g.232542932C>GCA2168760CHRNGc.655C>G (p.Pro219Ala)
c.499C>G (p.Pro167Ala)
 dbSNP ExAC
2g.232542932C>TCA351011653CHRNGc.655C>T (p.Pro219Ser)
c.499C>T (p.Pro167Ser)
 gnomAD v4
2g.232542933C>ACA351011656CHRNGc.656C>A (p.Pro219Gln)
c.500C>A (p.Pro167Gln)
2g.232542933C>GCA351011659CHRNGc.656C>G (p.Pro219Arg)
c.500C>G (p.Pro167Arg)
 gnomAD v4
2g.232542933C>TCA351011660CHRNGc.656C>T (p.Pro219Leu)
c.500C>T (p.Pro167Leu)
 gnomAD v4
2g.232542934A>CCA431810870CHRNGc.657A>C (p.Pro219=)
c.501A>C (p.Pro167=)
2g.232542934A>GCA431810871CHRNGc.657A>G (p.Pro219=)
c.501A>G (p.Pro167=)
 gnomAD v4
2g.232542934A>TCA431810872CHRNGc.657A>T (p.Pro219=)
c.501A>T (p.Pro167=)
2g.232542935G>ACA351011663CHRNGc.658G>A (p.Ala220Thr)
c.502G>A (p.Ala168Thr)
2g.232542935G>CCA351011665CHRNGc.658G>C (p.Ala220Pro)
c.502G>C (p.Ala168Pro)
2g.232542935G>TCA351011662CHRNGc.658G>T (p.Ala220Ser)
c.502G>T (p.Ala168Ser)
2g.232542936C>ACA351011670CHRNGc.659C>A (p.Ala220Glu)
c.503C>A (p.Ala168Glu)
 gnomAD v4
2g.232542936C=CA1335317491CHRNGc.659C= (p.Ala220=)
c.503C= (p.Ala168=)
2g.232542936C>GCA351011668CHRNGc.659C>G (p.Ala220Gly)
c.503C>G (p.Ala168Gly)
2g.232542936C>TCA2168761CHRNGc.659C>T (p.Ala220Val)
c.503C>T (p.Ala168Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232542937G>ACA2168762CHRNGc.660G>A (p.Ala220=)
c.504G>A (p.Ala168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542937G>CCA431810875CHRNGc.660G>C (p.Ala220=)
c.504G>C (p.Ala168=)
2g.232542937G=CA1335317492CHRNGc.660G= (p.Ala220=)
c.504G= (p.Ala168=)
2g.232542937G>TCA431810876CHRNGc.660G>T (p.Ala220=)
c.504G>T (p.Ala168=)
2g.232542938G>ACA351011675CHRNGc.661G>A (p.Ala221Thr)
c.505G>A (p.Ala169Thr)
2g.232542938G>CCA351011678CHRNGc.661G>C (p.Ala221Pro)
c.505G>C (p.Ala169Pro)
2g.232542938G=CA1335317493CHRNGc.661G= (p.Ala221=)
c.505G= (p.Ala169=)
2g.232542938G>TCA2168763CHRNGc.661G>T (p.Ala221Ser)
c.505G>T (p.Ala169Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542939C>ACA351011679CHRNGc.662C>A (p.Ala221Glu)
c.506C>A (p.Ala169Glu)
 gnomAD v4
2g.232542939C=CA1335317494CHRNGc.662C= (p.Ala221=)
c.506C= (p.Ala169=)
2g.232542939C>GCA351011680CHRNGc.662C>G (p.Ala221Gly)
c.506C>G (p.Ala169Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.232542939C>TCA2168764CHRNGc.662C>T (p.Ala221Val)
c.506C>T (p.Ala169Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.232542940G>ACA2168765CHRNGc.663G>A (p.Ala221=)
c.507G>A (p.Ala169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542940G>CCA431810881CHRNGc.663G>C (p.Ala221=)
c.507G>C (p.Ala169=)
 gnomAD v4
2g.232542940G=CA1335317495CHRNGc.663G= (p.Ala221=)
c.507G= (p.Ala169=)
2g.232542940G>TCA431810882CHRNGc.663G>T (p.Ala221=)
c.507G>T (p.Ala169=)
2g.232542941C>ACA351011681CHRNGc.664C>A (p.Pro222Thr)
c.508C>A (p.Pro170Thr)
2g.232542941C>GCA351011683CHRNGc.664C>G (p.Pro222Ala)
c.508C>G (p.Pro170Ala)
2g.232542941C>TCA351011684CHRNGc.664C>T (p.Pro222Ser)
c.508C>T (p.Pro170Ser)
2g.232542942C>ACA351011690CHRNGc.665C>A (p.Pro222Gln)
c.509C>A (p.Pro170Gln)
2g.232542942C=CA1335317496CHRNGc.665C= (p.Pro222=)
c.509C= (p.Pro170=)
2g.232542942C>GCA351011687CHRNGc.665C>G (p.Pro222Arg)
c.509C>G (p.Pro170Arg)
2g.232542942C>TCA2168766CHRNGc.665C>T (p.Pro222Leu)
c.509C>T (p.Pro170Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542943A>CCA431810887CHRNGc.666A>C (p.Pro222=)
c.510A>C (p.Pro170=)
2g.232542943A>GCA431810889CHRNGc.666A>G (p.Pro222=)
c.510A>G (p.Pro170=)
2g.232542943A>TCA431810891CHRNGc.666A>T (p.Pro222=)
c.510A>T (p.Pro170=)
2g.232542944G>ACA2168767CHRNGc.667G>A (p.Ala223Thr)
c.511G>A (p.Ala171Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542944G>CCA351011695CHRNGc.667G>C (p.Ala223Pro)
c.511G>C (p.Ala171Pro)
2g.232542944G=CA1335317497CHRNGc.667G= (p.Ala223=)
c.511G= (p.Ala171=)
2g.232542944G>TCA351011697CHRNGc.667G>T (p.Ala223Ser)
c.511G>T (p.Ala171Ser)
2g.232542945C>ACA351011700CHRNGc.668C>A (p.Ala223Asp)
c.512C>A (p.Ala171Asp)
2g.232542945C>GCA351011703CHRNGc.668C>G (p.Ala223Gly)
c.512C>G (p.Ala171Gly)
2g.232542945C>TCA351011706CHRNGc.668C>T (p.Ala223Val)
c.512C>T (p.Ala171Val)
2g.232542946C>ACA431810893CHRNGc.669C>A (p.Ala223=)
c.513C>A (p.Ala171=)
2g.232542946C=CA1335317498CHRNGc.669C= (p.Ala223=)
c.513C= (p.Ala171=)
2g.232542946C>GCA431810894CHRNGc.669C>G (p.Ala223=)
c.513C>G (p.Ala171=)
2g.232542946C>TCA431810895CHRNGc.669C>T (p.Ala223=)
c.513C>T (p.Ala171=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.232542947C>ACA351011709CHRNGc.670C>A (p.Gln224Lys)
c.514C>A (p.Gln172Lys)
2g.232542947C>GCA351011711CHRNGc.670C>G (p.Gln224Glu)
c.514C>G (p.Gln172Glu)
2g.232542947C>TCA351011712CHRNGc.670C>T (p.Gln224Ter)
c.514C>T (p.Gln172Ter)
 ClinVar
2g.232542948A=CA1335317499CHRNGc.671A= (p.Gln224=)
c.515A= (p.Gln172=)
2g.232542948A>CCA351011715CHRNGc.671A>C (p.Gln224Pro)
c.515A>C (p.Gln172Pro)
2g.232542948A>GCA2168768CHRNGc.671A>G (p.Gln224Arg)
c.515A>G (p.Gln172Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542948A>TCA351011721CHRNGc.671A>T (p.Gln224Leu)
c.515A>T (p.Gln172Leu)
2g.232542949G>ACA431810897CHRNGc.672G>A (p.Gln224=)
c.516G>A (p.Gln172=)
 ClinVar dbSNP gnomAD v4
2g.232542949G>CCA351011724CHRNGc.672G>C (p.Gln224His)
c.516G>C (p.Gln172His)
2g.232542949G=CA1335317500CHRNGc.672G= (p.Gln224=)
c.516G= (p.Gln172=)
2g.232542949G>TCA351011726CHRNGc.672G>T (p.Gln224His)
c.516G>T (p.Gln172His)
2g.232542950G>ACA351011729CHRNGc.673G>A (p.Glu225Lys)
c.517G>A (p.Glu173Lys)
2g.232542950G>CCA351011731CHRNGc.673G>C (p.Glu225Gln)
c.517G>C (p.Glu173Gln)
2g.232542950G>TCA351011734CHRNGc.673G>T (p.Glu225Ter)
c.517G>T (p.Glu173Ter)
2g.232542951A>CCA351011736CHRNGc.674A>C (p.Glu225Ala)
c.518A>C (p.Glu173Ala)
2g.232542951A>GCA351011737CHRNGc.674A>G (p.Glu225Gly)
c.518A>G (p.Glu173Gly)
2g.232542951A>TCA351011739CHRNGc.674A>T (p.Glu225Val)
c.518A>T (p.Glu173Val)
2g.232542952A>CCA351011743CHRNGc.675A>C (p.Glu225Asp)
c.519A>C (p.Glu173Asp)
2g.232542952A>GCA431810900CHRNGc.675A>G (p.Glu225=)
c.519A>G (p.Glu173=)
2g.232542952A>TCA351011741CHRNGc.675A>T (p.Glu225Asp)
c.519A>T (p.Glu173Asp)
2g.232542953G>ACA351011747CHRNGc.676G>A (p.Ala226Thr)
c.520G>A (p.Ala174Thr)
 gnomAD v4
2g.232542953G>CCA351011750CHRNGc.676G>C (p.Ala226Pro)
c.520G>C (p.Ala174Pro)
2g.232542953G>TCA351011752CHRNGc.676G>T (p.Ala226Ser)
c.520G>T (p.Ala174Ser)
2g.232542954C>ACA351011755CHRNGc.677C>A (p.Ala226Glu)
c.521C>A (p.Ala174Glu)
2g.232542954C>GCA351011756CHRNGc.677C>G (p.Ala226Gly)
c.521C>G (p.Ala174Gly)
2g.232542954C>TCA351011757CHRNGc.677C>T (p.Ala226Val)
c.521C>T (p.Ala174Val)
2g.232542955A>CCA431810903CHRNGc.678A>C (p.Ala226=)
c.522A>C (p.Ala174=)
2g.232542955A>GCA431810905CHRNGc.678A>G (p.Ala226=)
c.522A>G (p.Ala174=)
2g.232542955A>TCA431810904CHRNGc.678A>T (p.Ala226=)
c.522A>T (p.Ala174=)
2g.232542956G>ACA351011758CHRNGc.679G>A (p.Gly227Ser)
c.523G>A (p.Gly175Ser)
2g.232542956G>CCA351011760CHRNGc.679G>C (p.Gly227Arg)
c.523G>C (p.Gly175Arg)
2g.232542956G>TCA351011759CHRNGc.679G>T (p.Gly227Cys)
c.523G>T (p.Gly175Cys)
2g.232542957G>ACA351011761CHRNGc.680G>A (p.Gly227Asp)
c.524G>A (p.Gly175Asp)
2g.232542957G>CCA351011762CHRNGc.680G>C (p.Gly227Ala)
c.524G>C (p.Gly175Ala)
2g.232542957G>TCA351011763CHRNGc.680G>T (p.Gly227Val)
c.524G>T (p.Gly175Val)
2g.232542958C>ACA431810907CHRNGc.681C>A (p.Gly227=)
c.525C>A (p.Gly175=)
 gnomAD v4
2g.232542958C>GCA431810908CHRNGc.681C>G (p.Gly227=)
c.525C>G (p.Gly175=)
 gnomAD v4
2g.232542958C>TCA431810909CHRNGc.681C>T (p.Gly227=)
c.525C>T (p.Gly175=)
2g.232542959C>ACA351011764CHRNGc.682C>A (p.His228Asn)
c.526C>A (p.His176Asn)
2g.232542959C>GCA351011765CHRNGc.682C>G (p.His228Asp)
c.526C>G (p.His176Asp)
2g.232542959C>TCA351011767CHRNGc.682C>T (p.His228Tyr)
c.526C>T (p.His176Tyr)
 gnomAD v4
2g.232542960A>CCA351011768CHRNGc.683A>C (p.His228Pro)
c.527A>C (p.His176Pro)
2g.232542960A>GCA351011770CHRNGc.683A>G (p.His228Arg)
c.527A>G (p.His176Arg)
2g.232542960A>TCA351011775CHRNGc.683A>T (p.His228Leu)
c.527A>T (p.His176Leu)
2g.232542961C>ACA351011777CHRNGc.684C>A (p.His228Gln)
c.528C>A (p.His176Gln)
 dbSNP
2g.232542961C=CA1335317501CHRNGc.684C= (p.His228=)
c.528C= (p.His176=)
2g.232542961C>GCA351011778CHRNGc.684C>G (p.His228Gln)
c.528C>G (p.His176Gln)
2g.232542961C>TCA431810913CHRNGc.684C>T (p.His228=)
c.528C>T (p.His176=)
2g.232542962C>ACA351011787CHRNGc.685C>A (p.Gln229Lys)
c.529C>A (p.Gln177Lys)
2g.232542962C=CA1335317502CHRNGc.685C= (p.Gln229=)
c.529C= (p.Gln177=)
2g.232542962C>GCA351011785CHRNGc.685C>G (p.Gln229Glu)
c.529C>G (p.Gln177Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232542962C>TCA351011782CHRNGc.685C>T (p.Gln229Ter)
c.529C>T (p.Gln177Ter)
2g.232542962_232542965delinsCAGACA1335317503CHRNGc.685_688delinsCAGA (p.Gln229=)
c.529_532delinsCAGA (p.Gln177=)
2g.232542963A=CA1335317504CHRNGc.686A= (p.Gln229=)
c.530A= (p.Gln177=)
2g.232542963A>CCA351011791CHRNGc.686A>C (p.Gln229Pro)
c.530A>C (p.Gln177Pro)
2g.232542963A>GCA351011794CHRNGc.686A>G (p.Gln229Arg)
c.530A>G (p.Gln177Arg)
 dbSNP gnomAD v4
2g.232542963A>TCA351011793CHRNGc.686A>T (p.Gln229Leu)
c.530A>T (p.Gln177Leu)
2g.232542964_232542965delCA2586971552CHRNGc.687_688del (p.Lys230GlyfsTer?)
c.531_532del (p.Lys178GlyfsTer?)
2g.232542965_232542967delCA1043460778CHRNGc.688_690del (p.Lys230del)
c.532_534del (p.Lys178del)
 dbSNP gnomAD v3 gnomAD v4
2g.232542964G>ACA431810918CHRNGc.687G>A (p.Gln229=)
c.531G>A (p.Gln177=)
 gnomAD v4
2g.232542964G>CCA351011797CHRNGc.687G>C (p.Gln229His)
c.531G>C (p.Gln177His)
2g.232542964G=CA1335317505CHRNGc.687G= (p.Gln229=)
c.531G= (p.Gln177=)
2g.232542964G>TCA351011800CHRNGc.687G>T (p.Gln229His)
c.531G>T (p.Gln177His)
 dbSNP
2g.232542965A=CA1335317506CHRNGc.688A= (p.Lys230=)
c.532A= (p.Lys178=)
2g.232542965A>CCA351011803CHRNGc.688A>C (p.Lys230Gln)
c.532A>C (p.Lys178Gln)
2g.232542965A>GCA351011805CHRNGc.688A>G (p.Lys230Glu)
c.532A>G (p.Lys178Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.232542965A>TCA351011808CHRNGc.688A>T (p.Lys230Ter)
c.532A>T (p.Lys178Ter)
2g.232542966A=CA1335317507CHRNGc.689A= (p.Lys230=)
c.533A= (p.Lys178=)
2g.232542966A>CCA351011809CHRNGc.689A>C (p.Lys230Thr)
c.533A>C (p.Lys178Thr)
2g.232542966A>GCA351011811CHRNGc.689A>G (p.Lys230Arg)
c.533A>G (p.Lys178Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.232542966A>TCA351011813CHRNGc.689A>T (p.Lys230Met)
c.533A>T (p.Lys178Met)
2g.232542967G>ACA431810920CHRNGc.690G>A (p.Lys230=)
c.534G>A (p.Lys178=)
2g.232542967G>CCA351011816CHRNGc.690G>C (p.Lys230Asn)
c.534G>C (p.Lys178Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.232542967G=CA1335317508CHRNGc.690G= (p.Lys230=)
c.534G= (p.Lys178=)
2g.232542967G>TCA351011817CHRNGc.690G>T (p.Lys230Asn)
c.534G>T (p.Lys178Asn)
2g.232542971_232542973delCA2577278446CHRNGc.694_696del (p.Val232del)
c.538_540del (p.Val180del)
 gnomAD v4
2g.232542968G>ACA351011819CHRNGc.691G>A (p.Val231Met)
c.535G>A (p.Val179Met)
2g.232542968G>CCA351011821CHRNGc.691G>C (p.Val231Leu)
c.535G>C (p.Val179Leu)
2g.232542968G>TCA351011823CHRNGc.691G>T (p.Val231Leu)
c.535G>T (p.Val179Leu)
2g.232542969T>ACA351011831CHRNGc.692T>A (p.Val231Glu)
c.536T>A (p.Val179Glu)
2g.232542969T>CCA351011826CHRNGc.692T>C (p.Val231Ala)
c.536T>C (p.Val179Ala)
2g.232542969T>GCA351011828CHRNGc.692T>G (p.Val231Gly)
c.536T>G (p.Val179Gly)
2g.232542970G>ACA431810922CHRNGc.693G>A (p.Val231=)
c.537G>A (p.Val179=)
 dbSNP gnomAD v3 gnomAD v4
2g.232542970G>CCA431810923CHRNGc.693G>C (p.Val231=)
c.537G>C (p.Val179=)
2g.232542970G=CA1335317509CHRNGc.693G= (p.Val231=)
c.537G= (p.Val179=)
2g.232542970G>TCA431810924CHRNGc.693G>T (p.Val231=)
c.537G>T (p.Val179=)
2g.232542971G>ACA351011834CHRNGc.694G>A (p.Val232Met)
c.538G>A (p.Val180Met)
 gnomAD v4
2g.232542971G>CCA351011837CHRNGc.694G>C (p.Val232Leu)
c.538G>C (p.Val180Leu)
2g.232542971G>TCA351011839CHRNGc.694G>T (p.Val232Leu)
c.538G>T (p.Val180Leu)
 gnomAD v4
2g.232542972T>ACA351011842CHRNGc.695T>A (p.Val232Glu)
c.539T>A (p.Val180Glu)
2g.232542972T>CCA351011845CHRNGc.695T>C (p.Val232Ala)
c.539T>C (p.Val180Ala)
2g.232542972T>GCA351011850CHRNGc.695T>G (p.Val232Gly)
c.539T>G (p.Val180Gly)
2g.232542973G>ACA2168769CHRNGc.696G>A (p.Val232=)
c.540G>A (p.Val180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542973G>CCA431810926CHRNGc.696G>C (p.Val232=)
c.540G>C (p.Val180=)
2g.232542973G=CA1335317510CHRNGc.696G= (p.Val232=)
c.540G= (p.Val180=)
2g.232542973G>TCA431810927CHRNGc.696G>T (p.Val232=)
c.540G>T (p.Val180=)
2g.232542974T>ACA351011853CHRNGc.697T>A (p.Phe233Ile)
c.541T>A (p.Phe181Ile)
2g.232542974T>CCA351011856CHRNGc.697T>C (p.Phe233Leu)
c.541T>C (p.Phe181Leu)
2g.232542974T>GCA351011857CHRNGc.697T>G (p.Phe233Val)
c.541T>G (p.Phe181Val)
 dbSNP gnomAD v3 gnomAD v4
2g.232542974T=CA1335317511CHRNGc.697T= (p.Phe233=)
c.541T= (p.Phe181=)
2g.232542975T>ACA351011863CHRNGc.698T>A (p.Phe233Tyr)
c.542T>A (p.Phe181Tyr)
2g.232542975T>CCA351011864CHRNGc.698T>C (p.Phe233Ser)
c.542T>C (p.Phe181Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232542975T>GCA351011860CHRNGc.698T>G (p.Phe233Cys)
c.542T>G (p.Phe181Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.232542975T=CA1335317512CHRNGc.698T= (p.Phe233=)
c.542T= (p.Phe181=)
2g.232542976C>ACA351011866CHRNGc.699C>A (p.Phe233Leu)
c.543C>A (p.Phe181Leu)
2g.232542976C>GCA351011868CHRNGc.699C>G (p.Phe233Leu)
c.543C>G (p.Phe181Leu)
2g.232542976C>TCA431810929CHRNGc.699C>T (p.Phe233=)
c.543C>T (p.Phe181=)
2g.232542977T>ACA351011870CHRNGc.700T>A (p.Tyr234Asn)
c.544T>A (p.Tyr182Asn)
2g.232542977T>CCA351011873CHRNGc.700T>C (p.Tyr234His)
c.544T>C (p.Tyr182His)
2g.232542977T>GCA351011875CHRNGc.700T>G (p.Tyr234Asp)
c.544T>G (p.Tyr182Asp)
2g.232542978A=CA1335317513CHRNGc.701A= (p.Tyr234=)
c.545A= (p.Tyr182=)
2g.232542978A>CCA351011877CHRNGc.701A>C (p.Tyr234Ser)
c.545A>C (p.Tyr182Ser)
 dbSNP
2g.232542978A>GCA351011878CHRNGc.701A>G (p.Tyr234Cys)
c.545A>G (p.Tyr182Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.232542978A>TCA351011880CHRNGc.701A>T (p.Tyr234Phe)
c.545A>T (p.Tyr182Phe)
2g.232542979C>ACA351011883CHRNGc.702C>A (p.Tyr234Ter)
c.546C>A (p.Tyr182Ter)
2g.232542979C>GCA351011884CHRNGc.702C>G (p.Tyr234Ter)
c.546C>G (p.Tyr182Ter)
2g.232542979C>TCA431810936CHRNGc.702C>T (p.Tyr234=)
c.546C>T (p.Tyr182=)
 gnomAD v4
2g.232542980C>ACA351011885CHRNGc.703C>A (p.Leu235Met)
c.547C>A (p.Leu183Met)
2g.232542980C=CA1335317514CHRNGc.703C= (p.Leu235=)
c.547C= (p.Leu183=)
2g.232542980C>GCA2168770CHRNGc.703C>G (p.Leu235Val)
c.547C>G (p.Leu183Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542980C>TCA431810938CHRNGc.703C>T (p.Leu235=)
c.547C>T (p.Leu183=)
2g.232542981T>ACA351011890CHRNGc.704T>A (p.Leu235Gln)
c.548T>A (p.Leu183Gln)
2g.232542981T>CCA351011888CHRNGc.704T>C (p.Leu235Pro)
c.548T>C (p.Leu183Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.232542981T>GCA351011889CHRNGc.704T>G (p.Leu235Arg)
c.548T>G (p.Leu183Arg)
2g.232542981T=CA1335317515CHRNGc.704T= (p.Leu235=)
c.548T= (p.Leu183=)
2g.232542982G>ACA431810943CHRNGc.705G>A (p.Leu235=)
c.549G>A (p.Leu183=)
2g.232542982G>CCA431810944CHRNGc.705G>C (p.Leu235=)
c.549G>C (p.Leu183=)
2g.232542982G>TCA431810945CHRNGc.705G>T (p.Leu235=)
c.549G>T (p.Leu183=)
2g.232542983C>ACA351011892CHRNGc.706C>A (p.Leu236Ile)
c.550C>A (p.Leu184Ile)
2g.232542983C=CA1335317516CHRNGc.706C= (p.Leu236=)
c.550C= (p.Leu184=)
2g.232542983C>GCA351011894CHRNGc.706C>G (p.Leu236Val)
c.550C>G (p.Leu184Val)
2g.232542983C>TCA351011897CHRNGc.706C>T (p.Leu236Phe)
c.550C>T (p.Leu184Phe)
 dbSNP COSMIC
2g.232542984T>ACA351011899CHRNGc.707T>A (p.Leu236His)
c.551T>A (p.Leu184His)
2g.232542984T>CCA351011913CHRNGc.707T>C (p.Leu236Pro)
c.551T>C (p.Leu184Pro)
 dbSNP
2g.232542984T>GCA351011915CHRNGc.707T>G (p.Leu236Arg)
c.551T>G (p.Leu184Arg)
2g.232542984T=CA1335317517CHRNGc.707T= (p.Leu236=)
c.551T= (p.Leu184=)
2g.232542985C>ACA431810947CHRNGc.708C>A (p.Leu236=)
c.552C>A (p.Leu184=)
2g.232542985C=CA1335317518CHRNGc.708C= (p.Leu236=)
c.552C= (p.Leu184=)
2g.232542985C>GCA431810950CHRNGc.708C>G (p.Leu236=)
c.552C>G (p.Leu184=)
2g.232542985C>TCA431810948CHRNGc.708C>T (p.Leu236=)
c.552C>T (p.Leu184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.232542986A>CCA351011918CHRNGc.709A>C (p.Ile237Leu)
c.553A>C (p.Ile185Leu)
2g.232542986A>GCA351011920CHRNGc.709A>G (p.Ile237Val)
c.553A>G (p.Ile185Val)
2g.232542986A>TCA351011923CHRNGc.709A>T (p.Ile237Phe)
c.553A>T (p.Ile185Phe)
2g.232542987T>ACA2168771CHRNGc.710T>A (p.Ile237Asn)
c.554T>A (p.Ile185Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542987T>CCA351011940CHRNGc.710T>C (p.Ile237Thr)
c.554T>C (p.Ile185Thr)
2g.232542987T>GCA351011943CHRNGc.710T>G (p.Ile237Ser)
c.554T>G (p.Ile185Ser)
2g.232542987T=CA1335317519CHRNGc.710T= (p.Ile237=)
c.554T= (p.Ile185=)
2g.232542987_232542988delinsAACA915941787CHRNGc.710_711delinsAA (p.Ile237Lys)
c.554_555delinsAA (p.Ile185Lys)
 ClinVar dbSNP
2g.232542987_232542988delinsTCCA1335317520CHRNGc.710_711delinsTC (p.Ile237=)
c.554_555delinsTC (p.Ile185=)
2g.232542988C>ACA2168772CHRNGc.711C>A (p.Ile237=)
c.555C>A (p.Ile185=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.232542988C=CA1335317521CHRNGc.711C= (p.Ile237=)
c.555C= (p.Ile185=)
2g.232542988C>GCA351011952CHRNGc.711C>G (p.Ile237Met)
c.555C>G (p.Ile185Met)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.232542988C>TCA2168773CHRNGc.711C>T (p.Ile237=)
c.555C>T (p.Ile185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542989C>ACA351011963CHRNGc.712C>A (p.Gln238Lys)
c.556C>A (p.Gln186Lys)
2g.232542989C>GCA351011956CHRNGc.712C>G (p.Gln238Glu)
c.556C>G (p.Gln186Glu)
2g.232542989C>TCA351011959CHRNGc.712C>T (p.Gln238Ter)
c.556C>T (p.Gln186Ter)
2g.232542990A>CCA351011967CHRNGc.713A>C (p.Gln238Pro)
c.557A>C (p.Gln186Pro)
2g.232542990A>GCA351011969CHRNGc.713A>G (p.Gln238Arg)
c.557A>G (p.Gln186Arg)
2g.232542990A>TCA351011971CHRNGc.713A>T (p.Gln238Leu)
c.557A>T (p.Gln186Leu)
2g.232542991G>ACA431810953CHRNGc.714G>A (p.Gln238=)
c.558G>A (p.Gln186=)
2g.232542991G>CCA351011974CHRNGc.714G>C (p.Gln238His)
c.558G>C (p.Gln186His)
2g.232542991G=CA1335317522CHRNGc.714G= (p.Gln238=)
c.558G= (p.Gln186=)
2g.232542991G>TCA2168774CHRNGc.714G>T (p.Gln238His)
c.558G>T (p.Gln186His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542992C>ACA351011980CHRNGc.715C>A (p.Arg239Ser)
c.559C>A (p.Arg187Ser)
2g.232542992C=CA1335317523CHRNGc.715C= (p.Arg239=)
c.559C= (p.Arg187=)
2g.232542992C>GCA351011987CHRNGc.715C>G (p.Arg239Gly)
c.559C>G (p.Arg187Gly)
2g.232542992C>TCA128049CHRNGc.715C>T (p.Arg239Cys)
c.559C>T (p.Arg187Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched