Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.27461596G>CCA174237053CHRNA2c.*33C>G (n.*33C>G)
n.448C>G
c.*1025C>G (n.*1025C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461596G=CA1772811500CHRNA2c.*33C= (n.*33C=)
n.448C=
c.*1025C= (n.*1025C=)
8g.27461596G>TCA4689391CHRNA2c.*33C>A (n.*33C>A)
n.448C>A
c.*1025C>A (n.*1025C>A)
 dbSNP ExAC
8g.27461597G>ACA850382646CHRNA2c.*32C>T (n.*32C>T)
n.447C>T
c.*1024C>T (n.*1024C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.27461597G=CA1772811503CHRNA2c.*32C= (n.*32C=)
n.447C=
c.*1024C= (n.*1024C=)
8g.27461598T>CCA580667772CHRNA2c.*31A>G (n.*31A>G)
n.446A>G
c.*1023A>G (n.*1023A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.27461598T>GCA1772811507CHRNA2c.*31A>C (n.*31A>C)
n.446A>C
c.*1023A>C (n.*1023A>C)
 dbSNP
8g.27461598T=CA1772811505CHRNA2c.*31A= (n.*31A=)
n.446A=
c.*1023A= (n.*1023A=)
8g.27461599G>ACA4689392CHRNA2c.*30C>T (n.*30C>T)
n.445C>T
c.*1022C>T (n.*1022C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27461599G>CCA580667773CHRNA2c.*30C>G (n.*30C>G)
n.445C>G
c.*1022C>G (n.*1022C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.27461599G=CA1772811510CHRNA2c.*30C= (n.*30C=)
n.445C=
c.*1022C= (n.*1022C=)
8g.27461599G>TCA2686677816CHRNA2c.*30C>A (n.*30C>A)
n.445C>A
c.*1022C>A (n.*1022C>A)
 gnomAD v4
8g.27461600C>ACA2686677817CHRNA2c.*29G>T (n.*29G>T)
n.444G>T
c.*1021G>T (n.*1021G>T)
 gnomAD v4
8g.27461600C=CA1772811512CHRNA2c.*29G= (n.*29G=)
n.444G=
c.*1021G= (n.*1021G=)
8g.27461600C>TCA4689393CHRNA2c.*29G>A (n.*29G>A)
n.444G>A
c.*1021G>A (n.*1021G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461601C>GCA2686677818CHRNA2c.*28G>C (n.*28G>C)
n.443G>C
c.*1020G>C (n.*1020G>C)
 gnomAD v4
8g.27461601C>TCA2779503634CHRNA2c.*28G>A (n.*28G>A)
n.443G>A
c.*1020G>A (n.*1020G>A)
8g.27461602C>TCA2686677819CHRNA2c.*27G>A (n.*27G>A)
n.442G>A
c.*1019G>A (n.*1019G>A)
 gnomAD v4
8g.27461603T>CCA2686677820CHRNA2c.*26A>G (n.*26A>G)
n.441A>G
c.*1018A>G (n.*1018A>G)
 gnomAD v4
8g.27461603T>GCA2686677821CHRNA2c.*26A>C (n.*26A>C)
n.441A>C
c.*1018A>C (n.*1018A>C)
 gnomAD v4
8g.27461604G>ACA2549981912CHRNA2c.*25C>T (n.*25C>T)
n.440C>T
c.*1017C>T (n.*1017C>T)
 gnomAD v4
8g.27461604G>CCA1772811521CHRNA2c.*25C>G (n.*25C>G)
n.440C>G
c.*1017C>G (n.*1017C>G)
 dbSNP gnomAD v4
8g.27461604G=CA1772811519CHRNA2c.*25C= (n.*25C=)
n.440C=
c.*1017C= (n.*1017C=)
8g.27461605G>ACA580667774CHRNA2c.*24C>T (n.*24C>T)
n.439C>T
c.*1016C>T (n.*1016C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.27461605G=CA1772811523CHRNA2c.*24C= (n.*24C=)
n.439C=
c.*1016C= (n.*1016C=)
8g.27461606G>ACA174237060CHRNA2c.*23C>T (n.*23C>T)
n.438C>T
c.*1015C>T (n.*1015C>T)
 dbSNP
8g.27461606G=CA1772811525CHRNA2c.*23C= (n.*23C=)
n.438C=
c.*1015C= (n.*1015C=)
8g.27461608G>TCA2579127487CHRNA2c.*21C>A (n.*21C>A)
n.436C>A
c.*1013C>A (n.*1013C>A)
8g.27461609C>TCA2579127488CHRNA2c.*20G>A (n.*20G>A)
n.435G>A
c.*1012G>A (n.*1012G>A)
 gnomAD v4
8g.27461610C>GCA2686677822CHRNA2c.*19G>C (n.*19G>C)
n.434G>C
c.*1011G>C (n.*1011G>C)
 gnomAD v4
8g.27461610C>TCA2686677823CHRNA2c.*19G>A (n.*19G>A)
n.434G>A
c.*1011G>A (n.*1011G>A)
 gnomAD v4
8g.27461612G>ACA2686677824CHRNA2c.*17C>T (n.*17C>T)
n.432C>T
c.*1009C>T (n.*1009C>T)
 gnomAD v4
8g.27461613C=CA1772811527CHRNA2c.*16G= (n.*16G=)
n.431G=
c.*1008G= (n.*1008G=)
8g.27461613C>TCA580667775CHRNA2c.*16G>A (n.*16G>A)
n.431G>A
c.*1008G>A (n.*1008G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.27461615C=CA1772811528CHRNA2c.*14G= (n.*14G=)
n.429G=
c.*1006G= (n.*1006G=)
8g.27461615C>GCA1772811530CHRNA2c.*14G>C (n.*14G>C)
n.429G>C
c.*1006G>C (n.*1006G>C)
 dbSNP
8g.27461615C>TCA4689394CHRNA2c.*14G>A (n.*14G>A)
n.429G>A
c.*1006G>A (n.*1006G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27461616G>ACA4689395CHRNA2c.*13C>T (n.*13C>T)
n.428C>T
c.*1005C>T (n.*1005C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461616G>CCA2686677825CHRNA2c.*13C>G (n.*13C>G)
n.428C>G
c.*1005C>G (n.*1005C>G)
 gnomAD v4
8g.27461616G=CA1772811532CHRNA2c.*13C= (n.*13C=)
n.428C=
c.*1005C= (n.*1005C=)
8g.27461618G>CCA4689396CHRNA2c.*11C>G (n.*11C>G)
n.426C>G
c.*1003C>G (n.*1003C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461618G=CA1772811535CHRNA2c.*11C= (n.*11C=)
n.426C=
c.*1003C= (n.*1003C=)
8g.27461619G>ACA4689397CHRNA2c.*10C>T (n.*10C>T)
n.425C>T
c.*1002C>T (n.*1002C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461619G=CA1772811536CHRNA2c.*10C= (n.*10C=)
n.425C=
c.*1002C= (n.*1002C=)
8g.27461620_27461621delinsGACA1772811538CHRNA2c.*8_*9delinsTC (n.*8_*9delinsTC)
n.423_424delinsTC
c.*1000_*1001delinsTC (n.*1000_*1001delinsTC)
8g.27461621delCA4689398CHRNA2c.*8del (n.*8del)
n.423del
c.*1000del (n.*1000del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461621A=CA1772811540CHRNA2c.*8T= (n.*8T=)
n.423T=
c.*1000T= (n.*1000T=)
8g.27461621A>GCA4689399CHRNA2c.*8T>C (n.*8T>C)
n.423T>C
c.*1000T>C (n.*1000T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461621A>TCA2579127489CHRNA2c.*8T>A (n.*8T>A)
n.423T>A
c.*1000T>A (n.*1000T>A)
 gnomAD v4
8g.27461623delCA370806562CHRNA2c.*7del (n.*7del)
n.422del
c.*999del (n.*999del)
8g.27461623G>ACA1772811548CHRNA2c.*6C>T (n.*6C>T)
n.421C>T
c.*998C>T (n.*998C>T)
 dbSNP
8g.27461623G>CCA2579127490CHRNA2c.*6C>G (n.*6C>G)
n.421C>G
c.*998C>G (n.*998C>G)
8g.27461623G=CA1772811547CHRNA2c.*6C= (n.*6C=)
n.421C=
c.*998C= (n.*998C=)
8g.27461623G>TCA2686677826CHRNA2c.*6C>A (n.*6C>A)
n.421C>A
c.*998C>A (n.*998C>A)
 gnomAD v4
8g.27461624T>GCA1772811550CHRNA2c.*5A>C (n.*5A>C)
n.420A>C
c.*997A>C (n.*997A>C)
 dbSNP
8g.27461624T=CA1772811549CHRNA2c.*5A= (n.*5A=)
n.420A=
c.*997A= (n.*997A=)
8g.27461625G>ACA174237094CHRNA2c.*4C>T (n.*4C>T)
n.419C>T
c.*996C>T (n.*996C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.27461625G=CA1772811552CHRNA2c.*4C= (n.*4C=)
n.419C=
c.*996C= (n.*996C=)
8g.27461626C=CA1772811554CHRNA2c.*3G= (n.*3G=)
n.418G=
c.*995G= (n.*995G=)
8g.27461626C>TCA4689400CHRNA2c.*3G>A (n.*3G>A)
n.418G>A
c.*995G>A (n.*995G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27461627A=CA1772811556CHRNA2c.*2T= (n.*2T=)
n.417T=
c.*994T= (n.*994T=)
8g.27461627A>GCA4689401CHRNA2c.*2T>C (n.*2T>C)
n.417T>C
c.*994T>C (n.*994T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461629T>ACA370806569CHRNA2c.1590A>T (p.Ter530Cys)
c.1545A>T (p.Ter515Cys)
n.415A>T
c.1524A>T (p.Ter508Cys)
c.*992A>T (n.*992A>T)
c.1113A>T (p.Ter371Cys)
c.996A>T (p.Ter332Cys)
8g.27461629T>CCA370806571CHRNA2c.1590A>G (p.Ter530Trp)
c.1545A>G (p.Ter515Trp)
n.415A>G
c.1524A>G (p.Ter508Trp)
c.*992A>G (n.*992A>G)
c.1113A>G (p.Ter371Trp)
c.996A>G (p.Ter332Trp)
8g.27461629T>GCA370806574CHRNA2c.1590A>C (p.Ter530Cys)
c.1545A>C (p.Ter515Cys)
n.415A>C
c.1524A>C (p.Ter508Cys)
c.*992A>C (n.*992A>C)
c.1113A>C (p.Ter371Cys)
c.996A>C (p.Ter332Cys)
8g.27461630C>ACA370806576CHRNA2c.1589G>T (p.Ter530Leu)
c.1544G>T (p.Ter515Leu)
n.414G>T
c.1523G>T (p.Ter508Leu)
c.*991G>T (n.*991G>T)
c.1112G>T (p.Ter371Leu)
c.995G>T (p.Ter332Leu)
8g.27461630C>GCA370806578CHRNA2c.1589G>C (p.Ter530Ser)
c.1544G>C (p.Ter515Ser)
n.414G>C
c.1523G>C (p.Ter508Ser)
c.*991G>C (n.*991G>C)
c.1112G>C (p.Ter371Ser)
c.995G>C (p.Ter332Ser)
8g.27461630C>TCA460046529CHRNA2c.1589G>A (p.Ter530=)
c.1544G>A (p.Ter515=)
n.414G>A
c.1523G>A (p.Ter508=)
c.*991G>A (n.*991G>A)
c.1112G>A (p.Ter371=)
c.995G>A (p.Ter332=)
 dbSNP gnomAD v4
8g.27461631A>CCA370806581CHRNA2c.1588T>G (p.Ter530Gly)
c.1543T>G (p.Ter515Gly)
n.413T>G
c.1522T>G (p.Ter508Gly)
c.*990T>G (n.*990T>G)
c.1111T>G (p.Ter371Gly)
c.994T>G (p.Ter332Gly)
8g.27461631A>GCA370806584CHRNA2c.1588T>C (p.Ter530Arg)
c.1543T>C (p.Ter515Arg)
n.413T>C
c.1522T>C (p.Ter508Arg)
c.*990T>C (n.*990T>C)
c.1111T>C (p.Ter371Arg)
c.994T>C (p.Ter332Arg)
8g.27461631A>TCA370806585CHRNA2c.1588T>A (p.Ter530Arg)
c.1543T>A (p.Ter515Arg)
n.413T>A
c.1522T>A (p.Ter508Arg)
c.*990T>A (n.*990T>A)
c.1111T>A (p.Ter371Arg)
c.994T>A (p.Ter332Arg)
8g.27461632G>ACA460046530CHRNA2c.1587C>T (p.Ile529=)
c.1542C>T (p.Ile514=)
n.412C>T
c.1521C>T (p.Ile507=)
c.*989C>T (n.*989C>T)
c.1110C>T (p.Ile370=)
c.993C>T (p.Ile331=)
 dbSNP
8g.27461632G>CCA370806588CHRNA2c.1587C>G (p.Ile529Met)
c.1542C>G (p.Ile514Met)
n.412C>G
c.1521C>G (p.Ile507Met)
c.*989C>G (n.*989C>G)
c.1110C>G (p.Ile370Met)
c.993C>G (p.Ile331Met)
8g.27461632G=CA1772811558CHRNA2c.1587C= (p.Ile529=)
c.1542C= (p.Ile514=)
n.412C=
c.1521C= (p.Ile507=)
c.*989C= (n.*989C=)
c.1110C= (p.Ile370=)
c.993C= (p.Ile331=)
8g.27461632G>TCA460046531CHRNA2c.1587C>A (p.Ile529=)
c.1542C>A (p.Ile514=)
n.412C>A
c.1521C>A (p.Ile507=)
c.*989C>A (n.*989C>A)
c.1110C>A (p.Ile370=)
c.993C>A (p.Ile331=)
 gnomAD v4
8g.27461633A>CCA370806594CHRNA2c.1586T>G (p.Ile529Ser)
c.1541T>G (p.Ile514Ser)
n.411T>G
c.1520T>G (p.Ile507Ser)
c.*988T>G (n.*988T>G)
c.1109T>G (p.Ile370Ser)
c.992T>G (p.Ile331Ser)
8g.27461633A>GCA370806596CHRNA2c.1586T>C (p.Ile529Thr)
c.1541T>C (p.Ile514Thr)
n.411T>C
c.1520T>C (p.Ile507Thr)
c.*988T>C (n.*988T>C)
c.1109T>C (p.Ile370Thr)
c.992T>C (p.Ile331Thr)
8g.27461633A>TCA370806592CHRNA2c.1586T>A (p.Ile529Asn)
c.1541T>A (p.Ile514Asn)
n.411T>A
c.1520T>A (p.Ile507Asn)
c.*988T>A (n.*988T>A)
c.1109T>A (p.Ile370Asn)
c.992T>A (p.Ile331Asn)
8g.27461634T>ACA370806598CHRNA2c.1585A>T (p.Ile529Phe)
c.1540A>T (p.Ile514Phe)
n.410A>T
c.1519A>T (p.Ile507Phe)
c.*987A>T (n.*987A>T)
c.1108A>T (p.Ile370Phe)
c.991A>T (p.Ile331Phe)
8g.27461634T>CCA370806599CHRNA2c.1585A>G (p.Ile529Val)
c.1540A>G (p.Ile514Val)
n.410A>G
c.1519A>G (p.Ile507Val)
c.*987A>G (n.*987A>G)
c.1108A>G (p.Ile370Val)
c.991A>G (p.Ile331Val)
8g.27461634T>GCA370806601CHRNA2c.1585A>C (p.Ile529Leu)
c.1540A>C (p.Ile514Leu)
n.410A>C
c.1519A>C (p.Ile507Leu)
c.*987A>C (n.*987A>C)
c.1108A>C (p.Ile370Leu)
c.991A>C (p.Ile331Leu)
8g.27461635C>ACA370806603CHRNA2c.1584G>T (p.Met528Ile)
c.1539G>T (p.Met513Ile)
n.409G>T
c.1518G>T (p.Met506Ile)
c.*986G>T (n.*986G>T)
c.1107G>T (p.Met369Ile)
c.990G>T (p.Met330Ile)
8g.27461635C>GCA370806605CHRNA2c.1584G>C (p.Met528Ile)
c.1539G>C (p.Met513Ile)
n.409G>C
c.1518G>C (p.Met506Ile)
c.*986G>C (n.*986G>C)
c.1107G>C (p.Met369Ile)
c.990G>C (p.Met330Ile)
8g.27461635C>TCA370806607CHRNA2c.1584G>A (p.Met528Ile)
c.1539G>A (p.Met513Ile)
n.409G>A
c.1518G>A (p.Met506Ile)
c.*986G>A (n.*986G>A)
c.1107G>A (p.Met369Ile)
c.990G>A (p.Met330Ile)
8g.27461636A=CA1772811560CHRNA2c.1583T= (p.Met528=)
c.1538T= (p.Met513=)
n.408T=
c.1517T= (p.Met506=)
c.*985T= (n.*985T=)
c.1106T= (p.Met369=)
c.989T= (p.Met330=)
8g.27461636A>CCA370806611CHRNA2c.1583T>G (p.Met528Arg)
c.1538T>G (p.Met513Arg)
n.408T>G
c.1517T>G (p.Met506Arg)
c.*985T>G (n.*985T>G)
c.1106T>G (p.Met369Arg)
c.989T>G (p.Met330Arg)
8g.27461636A>GCA370806613CHRNA2c.1583T>C (p.Met528Thr)
c.1538T>C (p.Met513Thr)
n.408T>C
c.1517T>C (p.Met506Thr)
c.*985T>C (n.*985T>C)
c.1106T>C (p.Met369Thr)
c.989T>C (p.Met330Thr)
 ClinVar dbSNP
8g.27461636A>TCA370806614CHRNA2c.1583T>A (p.Met528Lys)
c.1538T>A (p.Met513Lys)
n.408T>A
c.1517T>A (p.Met506Lys)
c.*985T>A (n.*985T>A)
c.1106T>A (p.Met369Lys)
c.989T>A (p.Met330Lys)
 gnomAD v4
8g.27461637T>ACA370806617CHRNA2c.1582A>T (p.Met528Leu)
c.1537A>T (p.Met513Leu)
n.407A>T
c.1516A>T (p.Met506Leu)
c.*984A>T (n.*984A>T)
c.1105A>T (p.Met369Leu)
c.988A>T (p.Met330Leu)
8g.27461637T>CCA370806618CHRNA2c.1582A>G (p.Met528Val)
c.1537A>G (p.Met513Val)
n.407A>G
c.1516A>G (p.Met506Val)
c.*984A>G (n.*984A>G)
c.1105A>G (p.Met369Val)
c.988A>G (p.Met330Val)
 gnomAD v4
8g.27461637T>GCA370806622CHRNA2c.1582A>C (p.Met528Leu)
c.1537A>C (p.Met513Leu)
n.407A>C
c.1516A>C (p.Met506Leu)
c.*984A>C (n.*984A>C)
c.1105A>C (p.Met369Leu)
c.988A>C (p.Met330Leu)
8g.27461638T>ACA460046534CHRNA2c.1581A>T (p.Gly527=)
c.1536A>T (p.Gly512=)
n.406A>T
c.1515A>T (p.Gly505=)
c.*983A>T (n.*983A>T)
c.1104A>T (p.Gly368=)
c.987A>T (p.Gly329=)
8g.27461638T>CCA460046532CHRNA2c.1581A>G (p.Gly527=)
c.1536A>G (p.Gly512=)
n.406A>G
c.1515A>G (p.Gly505=)
c.*983A>G (n.*983A>G)
c.1104A>G (p.Gly368=)
c.987A>G (p.Gly329=)
8g.27461638T>GCA460046533CHRNA2c.1581A>C (p.Gly527=)
c.1536A>C (p.Gly512=)
n.406A>C
c.1515A>C (p.Gly505=)
c.*983A>C (n.*983A>C)
c.1104A>C (p.Gly368=)
c.987A>C (p.Gly329=)
8g.27461639C>ACA370806626CHRNA2c.1580G>T (p.Gly527Val)
c.1535G>T (p.Gly512Val)
n.405G>T
c.1514G>T (p.Gly505Val)
c.*982G>T (n.*982G>T)
c.1103G>T (p.Gly368Val)
c.986G>T (p.Gly329Val)
8g.27461639C>GCA370806628CHRNA2c.1580G>C (p.Gly527Ala)
c.1535G>C (p.Gly512Ala)
n.405G>C
c.1514G>C (p.Gly505Ala)
c.*982G>C (n.*982G>C)
c.1103G>C (p.Gly368Ala)
c.986G>C (p.Gly329Ala)
8g.27461639C>TCA370806624CHRNA2c.1580G>A (p.Gly527Glu)
c.1535G>A (p.Gly512Glu)
n.405G>A
c.1514G>A (p.Gly505Glu)
c.*982G>A (n.*982G>A)
c.1103G>A (p.Gly368Glu)
c.986G>A (p.Gly329Glu)
 COSMIC
8g.27461640C>ACA370806632CHRNA2c.1579G>T (p.Gly527Ter)
c.1534G>T (p.Gly512Ter)
n.404G>T
c.1513G>T (p.Gly505Ter)
c.*981G>T (n.*981G>T)
c.1102G>T (p.Gly368Ter)
c.985G>T (p.Gly329Ter)
8g.27461640C>GCA370806636CHRNA2c.1579G>C (p.Gly527Arg)
c.1534G>C (p.Gly512Arg)
n.404G>C
c.1513G>C (p.Gly505Arg)
c.*981G>C (n.*981G>C)
c.1102G>C (p.Gly368Arg)
c.985G>C (p.Gly329Arg)
8g.27461640C>TCA370806640CHRNA2c.1579G>A (p.Gly527Arg)
c.1534G>A (p.Gly512Arg)
n.404G>A
c.1513G>A (p.Gly505Arg)
c.*981G>A (n.*981G>A)
c.1102G>A (p.Gly368Arg)
c.985G>A (p.Gly329Arg)
8g.27461641A>CCA460046535CHRNA2c.1578T>G (p.Ala526=)
c.1533T>G (p.Ala511=)
n.403T>G
c.1512T>G (p.Ala504=)
c.*980T>G (n.*980T>G)
c.1101T>G (p.Ala367=)
c.984T>G (p.Ala328=)
 gnomAD v4
8g.27461641A>GCA460046536CHRNA2c.1578T>C (p.Ala526=)
c.1533T>C (p.Ala511=)
n.403T>C
c.1512T>C (p.Ala504=)
c.*980T>C (n.*980T>C)
c.1101T>C (p.Ala367=)
c.984T>C (p.Ala328=)
8g.27461641A>TCA460046537CHRNA2c.1578T>A (p.Ala526=)
c.1533T>A (p.Ala511=)
n.403T>A
c.1512T>A (p.Ala504=)
c.*980T>A (n.*980T>A)
c.1101T>A (p.Ala367=)
c.984T>A (p.Ala328=)
8g.27461642G>ACA370806643CHRNA2c.1577C>T (p.Ala526Val)
c.1532C>T (p.Ala511Val)
n.402C>T
c.1511C>T (p.Ala504Val)
c.*979C>T (n.*979C>T)
c.1100C>T (p.Ala367Val)
c.983C>T (p.Ala328Val)
8g.27461642G>CCA370806644CHRNA2c.1577C>G (p.Ala526Gly)
c.1532C>G (p.Ala511Gly)
n.402C>G
c.1511C>G (p.Ala504Gly)
c.*979C>G (n.*979C>G)
c.1100C>G (p.Ala367Gly)
c.983C>G (p.Ala328Gly)
8g.27461642G>TCA370806646CHRNA2c.1577C>A (p.Ala526Asp)
c.1532C>A (p.Ala511Asp)
n.402C>A
c.1511C>A (p.Ala504Asp)
c.*979C>A (n.*979C>A)
c.1100C>A (p.Ala367Asp)
c.983C>A (p.Ala328Asp)
8g.27461643C>ACA370806649CHRNA2c.1576G>T (p.Ala526Ser)
c.1531G>T (p.Ala511Ser)
n.401G>T
c.1510G>T (p.Ala504Ser)
c.*978G>T (n.*978G>T)
c.1099G>T (p.Ala367Ser)
c.982G>T (p.Ala328Ser)
8g.27461643C=CA1772811564CHRNA2c.1576G= (p.Ala526=)
c.1531G= (p.Ala511=)
n.401G=
c.1510G= (p.Ala504=)
c.*978G= (n.*978G=)
c.1099G= (p.Ala367=)
c.982G= (p.Ala328=)
8g.27461643C>GCA370806652CHRNA2c.1576G>C (p.Ala526Pro)
c.1531G>C (p.Ala511Pro)
n.401G>C
c.1510G>C (p.Ala504Pro)
c.*978G>C (n.*978G>C)
c.1099G>C (p.Ala367Pro)
c.982G>C (p.Ala328Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461643C>TCA370806651CHRNA2c.1576G>A (p.Ala526Thr)
c.1531G>A (p.Ala511Thr)
n.401G>A
c.1510G>A (p.Ala504Thr)
c.*978G>A (n.*978G>A)
c.1099G>A (p.Ala367Thr)
c.982G>A (p.Ala328Thr)
8g.27461644T>ACA460046539CHRNA2c.1575A>T (p.Leu525=)
c.1530A>T (p.Leu510=)
n.400A>T
c.1509A>T (p.Leu503=)
c.*977A>T (n.*977A>T)
c.1098A>T (p.Leu366=)
c.981A>T (p.Leu327=)
8g.27461644T>CCA174237109CHRNA2c.1575A>G (p.Leu525=)
c.1530A>G (p.Leu510=)
n.400A>G
c.1509A>G (p.Leu503=)
c.*977A>G (n.*977A>G)
c.1098A>G (p.Leu366=)
c.981A>G (p.Leu327=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461644T>GCA460046538CHRNA2c.1575A>C (p.Leu525=)
c.1530A>C (p.Leu510=)
n.400A>C
c.1509A>C (p.Leu503=)
c.*977A>C (n.*977A>C)
c.1098A>C (p.Leu366=)
c.981A>C (p.Leu327=)
8g.27461644T=CA1772811568CHRNA2c.1575A= (p.Leu525=)
c.1530A= (p.Leu510=)
n.400A=
c.1509A= (p.Leu503=)
c.*977A= (n.*977A=)
c.1098A= (p.Leu366=)
c.981A= (p.Leu327=)
8g.27461645A=CA1772811573CHRNA2c.1574T= (p.Leu525=)
c.1529T= (p.Leu510=)
n.399T=
c.1508T= (p.Leu503=)
c.*976T= (n.*976T=)
c.1097T= (p.Leu366=)
c.980T= (p.Leu327=)
8g.27461645A>CCA370806655CHRNA2c.1574T>G (p.Leu525Arg)
c.1529T>G (p.Leu510Arg)
n.399T>G
c.1508T>G (p.Leu503Arg)
c.*976T>G (n.*976T>G)
c.1097T>G (p.Leu366Arg)
c.980T>G (p.Leu327Arg)
8g.27461645A>GCA4689402CHRNA2c.1574T>C (p.Leu525Pro)
c.1529T>C (p.Leu510Pro)
n.399T>C
c.1508T>C (p.Leu503Pro)
c.*976T>C (n.*976T>C)
c.1097T>C (p.Leu366Pro)
c.980T>C (p.Leu327Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461645A>TCA370806669CHRNA2c.1574T>A (p.Leu525Gln)
c.1529T>A (p.Leu510Gln)
n.399T>A
c.1508T>A (p.Leu503Gln)
c.*976T>A (n.*976T>A)
c.1097T>A (p.Leu366Gln)
c.980T>A (p.Leu327Gln)
8g.27461646G>ACA460046540CHRNA2c.1573C>T (p.Leu525=)
c.1528C>T (p.Leu510=)
n.398C>T
c.1507C>T (p.Leu503=)
c.*975C>T (n.*975C>T)
c.1096C>T (p.Leu366=)
c.979C>T (p.Leu327=)
 dbSNP gnomAD v2 gnomAD v4
8g.27461646G>CCA370806674CHRNA2c.1573C>G (p.Leu525Val)
c.1528C>G (p.Leu510Val)
n.398C>G
c.1507C>G (p.Leu503Val)
c.*975C>G (n.*975C>G)
c.1096C>G (p.Leu366Val)
c.979C>G (p.Leu327Val)
8g.27461646G=CA1772811577CHRNA2c.1573C= (p.Leu525=)
c.1528C= (p.Leu510=)
n.398C=
c.1507C= (p.Leu503=)
c.*975C= (n.*975C=)
c.1096C= (p.Leu366=)
c.979C= (p.Leu327=)
8g.27461646G>TCA370806676CHRNA2c.1573C>A (p.Leu525Ile)
c.1528C>A (p.Leu510Ile)
n.398C>A
c.1507C>A (p.Leu503Ile)
c.*975C>A (n.*975C>A)
c.1096C>A (p.Leu366Ile)
c.979C>A (p.Leu327Ile)
8g.27461647G>ACA460046541CHRNA2c.1572C>T (p.Phe524=)
c.1527C>T (p.Phe509=)
n.397C>T
c.1506C>T (p.Phe502=)
c.*974C>T (n.*974C>T)
c.1095C>T (p.Phe365=)
c.978C>T (p.Phe326=)
 dbSNP gnomAD v3 gnomAD v4
8g.27461647G>CCA370806681CHRNA2c.1572C>G (p.Phe524Leu)
c.1527C>G (p.Phe509Leu)
n.397C>G
c.1506C>G (p.Phe502Leu)
c.*974C>G (n.*974C>G)
c.1095C>G (p.Phe365Leu)
c.978C>G (p.Phe326Leu)
8g.27461647G=CA1772811580CHRNA2c.1572C= (p.Phe524=)
c.1527C= (p.Phe509=)
n.397C=
c.1506C= (p.Phe502=)
c.*974C= (n.*974C=)
c.1095C= (p.Phe365=)
c.978C= (p.Phe326=)
8g.27461647G>TCA370806679CHRNA2c.1572C>A (p.Phe524Leu)
c.1527C>A (p.Phe509Leu)
n.397C>A
c.1506C>A (p.Phe502Leu)
c.*974C>A (n.*974C>A)
c.1095C>A (p.Phe365Leu)
c.978C>A (p.Phe326Leu)
8g.27461648A>CCA370806688CHRNA2c.1571T>G (p.Phe524Cys)
c.1526T>G (p.Phe509Cys)
n.396T>G
c.1505T>G (p.Phe502Cys)
c.*973T>G (n.*973T>G)
c.1094T>G (p.Phe365Cys)
c.977T>G (p.Phe326Cys)
8g.27461648A>GCA370806692CHRNA2c.1571T>C (p.Phe524Ser)
c.1526T>C (p.Phe509Ser)
n.396T>C
c.1505T>C (p.Phe502Ser)
c.*973T>C (n.*973T>C)
c.1094T>C (p.Phe365Ser)
c.977T>C (p.Phe326Ser)
 gnomAD v4
8g.27461648A>TCA370806690CHRNA2c.1571T>A (p.Phe524Tyr)
c.1526T>A (p.Phe509Tyr)
n.396T>A
c.1505T>A (p.Phe502Tyr)
c.*973T>A (n.*973T>A)
c.1094T>A (p.Phe365Tyr)
c.977T>A (p.Phe326Tyr)
8g.27461649A>CCA370806696CHRNA2c.1570T>G (p.Phe524Val)
c.1525T>G (p.Phe509Val)
n.395T>G
c.1504T>G (p.Phe502Val)
c.*972T>G (n.*972T>G)
c.1093T>G (p.Phe365Val)
c.976T>G (p.Phe326Val)
8g.27461649A>GCA370806697CHRNA2c.1570T>C (p.Phe524Leu)
c.1525T>C (p.Phe509Leu)
n.395T>C
c.1504T>C (p.Phe502Leu)
c.*972T>C (n.*972T>C)
c.1093T>C (p.Phe365Leu)
c.976T>C (p.Phe326Leu)
8g.27461649A>TCA370806699CHRNA2c.1570T>A (p.Phe524Ile)
c.1525T>A (p.Phe509Ile)
n.395T>A
c.1504T>A (p.Phe502Ile)
c.*972T>A (n.*972T>A)
c.1093T>A (p.Phe365Ile)
c.976T>A (p.Phe326Ile)
8g.27461650C>ACA460046542CHRNA2c.1569G>T (p.Pro523=)
c.1524G>T (p.Pro508=)
n.394G>T
c.1503G>T (p.Pro501=)
c.*971G>T (n.*971G>T)
c.1092G>T (p.Pro364=)
c.975G>T (p.Pro325=)
8g.27461650C=CA1772811587CHRNA2c.1569G= (p.Pro523=)
c.1524G= (p.Pro508=)
n.394G=
c.1503G= (p.Pro501=)
c.*971G= (n.*971G=)
c.1092G= (p.Pro364=)
c.975G= (p.Pro325=)
8g.27461650C>GCA460046543CHRNA2c.1569G>C (p.Pro523=)
c.1524G>C (p.Pro508=)
n.394G>C
c.1503G>C (p.Pro501=)
c.*971G>C (n.*971G>C)
c.1092G>C (p.Pro364=)
c.975G>C (p.Pro325=)
8g.27461650C>TCA4689403CHRNA2c.1569G>A (p.Pro523=)
c.1524G>A (p.Pro508=)
n.394G>A
c.1503G>A (p.Pro501=)
c.*971G>A (n.*971G>A)
c.1092G>A (p.Pro364=)
c.975G>A (p.Pro325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461651G>ACA313476CHRNA2c.1568C>T (p.Pro523Leu)
c.1523C>T (p.Pro508Leu)
n.393C>T
c.1502C>T (p.Pro501Leu)
c.*970C>T (n.*970C>T)
c.1091C>T (p.Pro364Leu)
c.974C>T (p.Pro325Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461651G>CCA370806701CHRNA2c.1568C>G (p.Pro523Arg)
c.1523C>G (p.Pro508Arg)
n.393C>G
c.1502C>G (p.Pro501Arg)
c.*970C>G (n.*970C>G)
c.1091C>G (p.Pro364Arg)
c.974C>G (p.Pro325Arg)
 ClinVar gnomAD v4
8g.27461651G=CA1772811594CHRNA2c.1568C= (p.Pro523=)
c.1523C= (p.Pro508=)
n.393C=
c.1502C= (p.Pro501=)
c.*970C= (n.*970C=)
c.1091C= (p.Pro364=)
c.974C= (p.Pro325=)
8g.27461651G>TCA4689404CHRNA2c.1568C>A (p.Pro523Gln)
c.1523C>A (p.Pro508Gln)
n.393C>A
c.1502C>A (p.Pro501Gln)
c.*970C>A (n.*970C>A)
c.1091C>A (p.Pro364Gln)
c.974C>A (p.Pro325Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461652G>ACA370806718CHRNA2c.1567C>T (p.Pro523Ser)
c.1522C>T (p.Pro508Ser)
n.392C>T
c.1501C>T (p.Pro501Ser)
c.*969C>T (n.*969C>T)
c.1090C>T (p.Pro364Ser)
c.973C>T (p.Pro325Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.27461652G>CCA370806721CHRNA2c.1567C>G (p.Pro523Ala)
c.1522C>G (p.Pro508Ala)
n.392C>G
c.1501C>G (p.Pro501Ala)
c.*969C>G (n.*969C>G)
c.1090C>G (p.Pro364Ala)
c.973C>G (p.Pro325Ala)
8g.27461652G=CA1772811600CHRNA2c.1567C= (p.Pro523=)
c.1522C= (p.Pro508=)
n.392C=
c.1501C= (p.Pro501=)
c.*969C= (n.*969C=)
c.1090C= (p.Pro364=)
c.973C= (p.Pro325=)
8g.27461652G>TCA370806722CHRNA2c.1567C>A (p.Pro523Thr)
c.1522C>A (p.Pro508Thr)
n.392C>A
c.1501C>A (p.Pro501Thr)
c.*969C>A (n.*969C>A)
c.1090C>A (p.Pro364Thr)
c.973C>A (p.Pro325Thr)
8g.27461653A>CCA460046545CHRNA2c.1566T>G (p.Pro522=)
c.1521T>G (p.Pro507=)
n.391T>G
c.1500T>G (p.Pro500=)
c.*968T>G (n.*968T>G)
c.1089T>G (p.Pro363=)
c.972T>G (p.Pro324=)
8g.27461653A>GCA460046546CHRNA2c.1566T>C (p.Pro522=)
c.1521T>C (p.Pro507=)
n.391T>C
c.1500T>C (p.Pro500=)
c.*968T>C (n.*968T>C)
c.1089T>C (p.Pro363=)
c.972T>C (p.Pro324=)
8g.27461653A>TCA460046544CHRNA2c.1566T>A (p.Pro522=)
c.1521T>A (p.Pro507=)
n.391T>A
c.1500T>A (p.Pro500=)
c.*968T>A (n.*968T>A)
c.1089T>A (p.Pro363=)
c.972T>A (p.Pro324=)
8g.27461654G>ACA370806725CHRNA2c.1565C>T (p.Pro522Leu)
c.1520C>T (p.Pro507Leu)
n.390C>T
c.1499C>T (p.Pro500Leu)
c.*967C>T (n.*967C>T)
c.1088C>T (p.Pro363Leu)
c.971C>T (p.Pro324Leu)
8g.27461654G>CCA4689405CHRNA2c.1565C>G (p.Pro522Arg)
c.1520C>G (p.Pro507Arg)
n.390C>G
c.1499C>G (p.Pro500Arg)
c.*967C>G (n.*967C>G)
c.1088C>G (p.Pro363Arg)
c.971C>G (p.Pro324Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.27461654G=CA1772811604CHRNA2c.1565C= (p.Pro522=)
c.1520C= (p.Pro507=)
n.390C=
c.1499C= (p.Pro500=)
c.*967C= (n.*967C=)
c.1088C= (p.Pro363=)
c.971C= (p.Pro324=)
8g.27461654G>TCA370806738CHRNA2c.1565C>A (p.Pro522His)
c.1520C>A (p.Pro507His)
n.390C>A
c.1499C>A (p.Pro500His)
c.*967C>A (n.*967C>A)
c.1088C>A (p.Pro363His)
c.971C>A (p.Pro324His)
8g.27461655G>ACA370806742CHRNA2c.1564C>T (p.Pro522Ser)
c.1519C>T (p.Pro507Ser)
n.389C>T
c.1498C>T (p.Pro500Ser)
c.*966C>T (n.*966C>T)
c.1087C>T (p.Pro363Ser)
c.970C>T (p.Pro324Ser)
 dbSNP
8g.27461655G>CCA370806747CHRNA2c.1564C>G (p.Pro522Ala)
c.1519C>G (p.Pro507Ala)
n.389C>G
c.1498C>G (p.Pro500Ala)
c.*966C>G (n.*966C>G)
c.1087C>G (p.Pro363Ala)
c.970C>G (p.Pro324Ala)
8g.27461655G=CA1772811609CHRNA2c.1564C= (p.Pro522=)
c.1519C= (p.Pro507=)
n.389C=
c.1498C= (p.Pro500=)
c.*966C= (n.*966C=)
c.1087C= (p.Pro363=)
c.970C= (p.Pro324=)
8g.27461655G>TCA370806745CHRNA2c.1564C>A (p.Pro522Thr)
c.1519C>A (p.Pro507Thr)
n.389C>A
c.1498C>A (p.Pro500Thr)
c.*966C>A (n.*966C>A)
c.1087C>A (p.Pro363Thr)
c.970C>A (p.Pro324Thr)
 dbSNP
8g.27461655_27461656delinsAGCA2499219210CHRNA2c.1563_1564delinsCT (p.Pro522Ser)
c.1518_1519delinsCT (p.Pro507Ser)
n.388_389delinsCT
c.1497_1498delinsCT (p.Pro500Ser)
c.*965_*966delinsCT (n.*965_*966delinsCT)
c.1086_1087delinsCT (p.Pro363Ser)
c.969_970delinsCT (p.Pro324Ser)
 ClinVar dbSNP
8g.27461656C>ACA460046547CHRNA2c.1563G>T (p.Leu521=)
c.1518G>T (p.Leu506=)
n.388G>T
c.1497G>T (p.Leu499=)
c.*965G>T (n.*965G>T)
c.1086G>T (p.Leu362=)
c.969G>T (p.Leu323=)
8g.27461656C=CA1772811613CHRNA2c.1563G= (p.Leu521=)
c.1518G= (p.Leu506=)
n.388G=
c.1497G= (p.Leu499=)
c.*965G= (n.*965G=)
c.1086G= (p.Leu362=)
c.969G= (p.Leu323=)
8g.27461656C>GCA460046548CHRNA2c.1563G>C (p.Leu521=)
c.1518G>C (p.Leu506=)
n.388G>C
c.1497G>C (p.Leu499=)
c.*965G>C (n.*965G>C)
c.1086G>C (p.Leu362=)
c.969G>C (p.Leu323=)
 dbSNP
8g.27461656C>TCA460046549CHRNA2c.1563G>A (p.Leu521=)
c.1518G>A (p.Leu506=)
n.388G>A
c.1497G>A (p.Leu499=)
c.*965G>A (n.*965G>A)
c.1086G>A (p.Leu362=)
c.969G>A (p.Leu323=)
8g.27461657A>CCA370806749CHRNA2c.1562T>G (p.Leu521Arg)
c.1517T>G (p.Leu506Arg)
n.387T>G
c.1496T>G (p.Leu499Arg)
c.*964T>G (n.*964T>G)
c.1085T>G (p.Leu362Arg)
c.968T>G (p.Leu323Arg)
8g.27461657A>GCA370806751CHRNA2c.1562T>C (p.Leu521Pro)
c.1517T>C (p.Leu506Pro)
n.387T>C
c.1496T>C (p.Leu499Pro)
c.*964T>C (n.*964T>C)
c.1085T>C (p.Leu362Pro)
c.968T>C (p.Leu323Pro)
8g.27461657A>TCA370806754CHRNA2c.1562T>A (p.Leu521Gln)
c.1517T>A (p.Leu506Gln)
n.387T>A
c.1496T>A (p.Leu499Gln)
c.*964T>A (n.*964T>A)
c.1085T>A (p.Leu362Gln)
c.968T>A (p.Leu323Gln)
8g.27461658G>ACA460046550CHRNA2c.1561C>T (p.Leu521=)
c.1516C>T (p.Leu506=)
n.386C>T
c.1495C>T (p.Leu499=)
c.*963C>T (n.*963C>T)
c.1084C>T (p.Leu362=)
c.967C>T (p.Leu323=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461658G>CCA370806757CHRNA2c.1561C>G (p.Leu521Val)
c.1516C>G (p.Leu506Val)
n.386C>G
c.1495C>G (p.Leu499Val)
c.*963C>G (n.*963C>G)
c.1084C>G (p.Leu362Val)
c.967C>G (p.Leu323Val)
8g.27461658G=CA1772811614CHRNA2c.1561C= (p.Leu521=)
c.1516C= (p.Leu506=)
n.386C=
c.1495C= (p.Leu499=)
c.*963C= (n.*963C=)
c.1084C= (p.Leu362=)
c.967C= (p.Leu323=)
8g.27461658G>TCA370806760CHRNA2c.1561C>A (p.Leu521Met)
c.1516C>A (p.Leu506Met)
n.386C>A
c.1495C>A (p.Leu499Met)
c.*963C>A (n.*963C>A)
c.1084C>A (p.Leu362Met)
c.967C>A (p.Leu323Met)
8g.27461659A>CCA370806763CHRNA2c.1560T>G (p.Phe520Leu)
c.1515T>G (p.Phe505Leu)
n.385T>G
c.1494T>G (p.Phe498Leu)
c.*962T>G (n.*962T>G)
c.1083T>G (p.Phe361Leu)
c.966T>G (p.Phe322Leu)
8g.27461659A>GCA460046551CHRNA2c.1560T>C (p.Phe520=)
c.1515T>C (p.Phe505=)
n.385T>C
c.1494T>C (p.Phe498=)
c.*962T>C (n.*962T>C)
c.1083T>C (p.Phe361=)
c.966T>C (p.Phe322=)
8g.27461659A>TCA370806765CHRNA2c.1560T>A (p.Phe520Leu)
c.1515T>A (p.Phe505Leu)
n.385T>A
c.1494T>A (p.Phe498Leu)
c.*962T>A (n.*962T>A)
c.1083T>A (p.Phe361Leu)
c.966T>A (p.Phe322Leu)
8g.27461660A>CCA370806767CHRNA2c.1559T>G (p.Phe520Cys)
c.1514T>G (p.Phe505Cys)
n.384T>G
c.1493T>G (p.Phe498Cys)
c.*961T>G (n.*961T>G)
c.1082T>G (p.Phe361Cys)
c.965T>G (p.Phe322Cys)
8g.27461660A>GCA370806770CHRNA2c.1559T>C (p.Phe520Ser)
c.1514T>C (p.Phe505Ser)
n.384T>C
c.1493T>C (p.Phe498Ser)
c.*961T>C (n.*961T>C)
c.1082T>C (p.Phe361Ser)
c.965T>C (p.Phe322Ser)
8g.27461660A>TCA370806773CHRNA2c.1559T>A (p.Phe520Tyr)
c.1514T>A (p.Phe505Tyr)
n.384T>A
c.1493T>A (p.Phe498Tyr)
c.*961T>A (n.*961T>A)
c.1082T>A (p.Phe361Tyr)
c.965T>A (p.Phe322Tyr)
8g.27461661A=CA1772811616CHRNA2c.1558T= (p.Phe520=)
c.1513T= (p.Phe505=)
n.383T=
c.1492T= (p.Phe498=)
c.*960T= (n.*960T=)
c.1081T= (p.Phe361=)
c.964T= (p.Phe322=)
8g.27461661A>CCA370806783CHRNA2c.1558T>G (p.Phe520Val)
c.1513T>G (p.Phe505Val)
n.383T>G
c.1492T>G (p.Phe498Val)
c.*960T>G (n.*960T>G)
c.1081T>G (p.Phe361Val)
c.964T>G (p.Phe322Val)
8g.27461661A>GCA370806778CHRNA2c.1558T>C (p.Phe520Leu)
c.1513T>C (p.Phe505Leu)
n.383T>C
c.1492T>C (p.Phe498Leu)
c.*960T>C (n.*960T>C)
c.1081T>C (p.Phe361Leu)
c.964T>C (p.Phe322Leu)
 dbSNP
8g.27461661A>TCA370806776CHRNA2c.1558T>A (p.Phe520Ile)
c.1513T>A (p.Phe505Ile)
n.383T>A
c.1492T>A (p.Phe498Ile)
c.*960T>A (n.*960T>A)
c.1081T>A (p.Phe361Ile)
c.964T>A (p.Phe322Ile)
8g.27461662G>ACA460046552CHRNA2c.1557C>T (p.Leu519=)
c.1512C>T (p.Leu504=)
n.382C>T
c.1491C>T (p.Leu497=)
c.*959C>T (n.*959C>T)
c.1080C>T (p.Leu360=)
c.963C>T (p.Leu321=)
8g.27461662G>CCA460046553CHRNA2c.1557C>G (p.Leu519=)
c.1512C>G (p.Leu504=)
n.382C>G
c.1491C>G (p.Leu497=)
c.*959C>G (n.*959C>G)
c.1080C>G (p.Leu360=)
c.963C>G (p.Leu321=)
8g.27461662G=CA1772811618CHRNA2c.1557C= (p.Leu519=)
c.1512C= (p.Leu504=)
n.382C=
c.1491C= (p.Leu497=)
c.*959C= (n.*959C=)
c.1080C= (p.Leu360=)
c.963C= (p.Leu321=)
8g.27461662G>TCA4689406CHRNA2c.1557C>A (p.Leu519=)
c.1512C>A (p.Leu504=)
n.382C>A
c.1491C>A (p.Leu497=)
c.*959C>A (n.*959C>A)
c.1080C>A (p.Leu360=)
c.963C>A (p.Leu321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461663A>CCA370806791CHRNA2c.1556T>G (p.Leu519Arg)
c.1511T>G (p.Leu504Arg)
n.381T>G
c.1490T>G (p.Leu497Arg)
c.*958T>G (n.*958T>G)
c.1079T>G (p.Leu360Arg)
c.962T>G (p.Leu321Arg)
8g.27461663A>GCA370806793CHRNA2c.1556T>C (p.Leu519Pro)
c.1511T>C (p.Leu504Pro)
n.381T>C
c.1490T>C (p.Leu497Pro)
c.*958T>C (n.*958T>C)
c.1079T>C (p.Leu360Pro)
c.962T>C (p.Leu321Pro)
8g.27461663A>TCA370806795CHRNA2c.1556T>A (p.Leu519His)
c.1511T>A (p.Leu504His)
n.381T>A
c.1490T>A (p.Leu497His)
c.*958T>A (n.*958T>A)
c.1079T>A (p.Leu360His)
c.962T>A (p.Leu321His)
8g.27461664G>ACA370806797CHRNA2c.1555C>T (p.Leu519Phe)
c.1510C>T (p.Leu504Phe)
n.380C>T
c.1489C>T (p.Leu497Phe)
c.*957C>T (n.*957C>T)
c.1078C>T (p.Leu360Phe)
c.961C>T (p.Leu321Phe)
 ClinVar dbSNP gnomAD v4
8g.27461664G>CCA370806799CHRNA2c.1555C>G (p.Leu519Val)
c.1510C>G (p.Leu504Val)
n.380C>G
c.1489C>G (p.Leu497Val)
c.*957C>G (n.*957C>G)
c.1078C>G (p.Leu360Val)
c.961C>G (p.Leu321Val)
8g.27461664G=CA1772811621CHRNA2c.1555C= (p.Leu519=)
c.1510C= (p.Leu504=)
n.380C=
c.1489C= (p.Leu497=)
c.*957C= (n.*957C=)
c.1078C= (p.Leu360=)
c.961C= (p.Leu321=)
8g.27461664G>TCA370806802CHRNA2c.1555C>A (p.Leu519Ile)
c.1510C>A (p.Leu504Ile)
n.380C>A
c.1489C>A (p.Leu497Ile)
c.*957C>A (n.*957C>A)
c.1078C>A (p.Leu360Ile)
c.961C>A (p.Leu321Ile)
 COSMIC
8g.27461665G>ACA460046556CHRNA2c.1554C>T (p.Gly518=)
c.1509C>T (p.Gly503=)
n.379C>T
c.1488C>T (p.Gly496=)
c.*956C>T (n.*956C>T)
c.1077C>T (p.Gly359=)
c.960C>T (p.Gly320=)
 gnomAD v4
8g.27461665G>CCA460046554CHRNA2c.1554C>G (p.Gly518=)
c.1509C>G (p.Gly503=)
n.379C>G
c.1488C>G (p.Gly496=)
c.*956C>G (n.*956C>G)
c.1077C>G (p.Gly359=)
c.960C>G (p.Gly320=)
 gnomAD v4
8g.27461665G>TCA460046555CHRNA2c.1554C>A (p.Gly518=)
c.1509C>A (p.Gly503=)
n.379C>A
c.1488C>A (p.Gly496=)
c.*956C>A (n.*956C>A)
c.1077C>A (p.Gly359=)
c.960C>A (p.Gly320=)
8g.27461667_27461684delCA2686677827CHRNA2c.1537_1554del (p.Phe513_Gly518del)
c.1492_1509del (p.Phe498_Gly503del)
n.362_379del
c.1471_1488del (p.Phe491_Gly496del)
c.*939_*956del (n.*939_*956del)
c.1060_1077del (p.Phe354_Gly359del)
c.943_960del (p.Phe315_Gly320del)
 gnomAD v4
8g.27461666C>ACA370806809CHRNA2c.1553G>T (p.Gly518Val)
c.1508G>T (p.Gly503Val)
n.378G>T
c.1487G>T (p.Gly496Val)
c.*955G>T (n.*955G>T)
c.1076G>T (p.Gly359Val)
c.959G>T (p.Gly320Val)
8g.27461666C>GCA370806804CHRNA2c.1553G>C (p.Gly518Ala)
c.1508G>C (p.Gly503Ala)
n.378G>C
c.1487G>C (p.Gly496Ala)
c.*955G>C (n.*955G>C)
c.1076G>C (p.Gly359Ala)
c.959G>C (p.Gly320Ala)
8g.27461666C>TCA370806806CHRNA2c.1553G>A (p.Gly518Asp)
c.1508G>A (p.Gly503Asp)
n.378G>A
c.1487G>A (p.Gly496Asp)
c.*955G>A (n.*955G>A)
c.1076G>A (p.Gly359Asp)
c.959G>A (p.Gly320Asp)
 COSMIC
8g.27461667C>ACA370806813CHRNA2c.1552G>T (p.Gly518Cys)
c.1507G>T (p.Gly503Cys)
n.377G>T
c.1486G>T (p.Gly496Cys)
c.*954G>T (n.*954G>T)
c.1075G>T (p.Gly359Cys)
c.958G>T (p.Gly320Cys)
8g.27461667C=CA1772811625CHRNA2c.1552G= (p.Gly518=)
c.1507G= (p.Gly503=)
n.377G=
c.1486G= (p.Gly496=)
c.*954G= (n.*954G=)
c.1075G= (p.Gly359=)
c.958G= (p.Gly320=)
8g.27461667C>GCA370806820CHRNA2c.1552G>C (p.Gly518Arg)
c.1507G>C (p.Gly503Arg)
n.377G>C
c.1486G>C (p.Gly496Arg)
c.*954G>C (n.*954G>C)
c.1075G>C (p.Gly359Arg)
c.958G>C (p.Gly320Arg)
8g.27461667C>TCA4689407CHRNA2c.1552G>A (p.Gly518Ser)
c.1507G>A (p.Gly503Ser)
n.377G>A
c.1486G>A (p.Gly496Ser)
c.*954G>A (n.*954G>A)
c.1075G>A (p.Gly359Ser)
c.958G>A (p.Gly320Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461668G>ACA4689408CHRNA2c.1551C>T (p.Ile517=)
c.1506C>T (p.Ile502=)
n.376C>T
c.1485C>T (p.Ile495=)
c.*953C>T (n.*953C>T)
c.1074C>T (p.Ile358=)
c.957C>T (p.Ile319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461668G>CCA370806826CHRNA2c.1551C>G (p.Ile517Met)
c.1506C>G (p.Ile502Met)
n.376C>G
c.1485C>G (p.Ile495Met)
c.*953C>G (n.*953C>G)
c.1074C>G (p.Ile358Met)
c.957C>G (p.Ile319Met)
 gnomAD v4
8g.27461668G=CA1772811634CHRNA2c.1551C= (p.Ile517=)
c.1506C= (p.Ile502=)
n.376C=
c.1485C= (p.Ile495=)
c.*953C= (n.*953C=)
c.1074C= (p.Ile358=)
c.957C= (p.Ile319=)
8g.27461668G>TCA460046557CHRNA2c.1551C>A (p.Ile517=)
c.1506C>A (p.Ile502=)
n.376C>A
c.1485C>A (p.Ile495=)
c.*953C>A (n.*953C>A)
c.1074C>A (p.Ile358=)
c.957C>A (p.Ile319=)
8g.27461669A>CCA370806830CHRNA2c.1550T>G (p.Ile517Ser)
c.1505T>G (p.Ile502Ser)
n.375T>G
c.1484T>G (p.Ile495Ser)
c.*952T>G (n.*952T>G)
c.1073T>G (p.Ile358Ser)
c.956T>G (p.Ile319Ser)
8g.27461669A>GCA370806837CHRNA2c.1550T>C (p.Ile517Thr)
c.1505T>C (p.Ile502Thr)
n.375T>C
c.1484T>C (p.Ile495Thr)
c.*952T>C (n.*952T>C)
c.1073T>C (p.Ile358Thr)
c.956T>C (p.Ile319Thr)
8g.27461669A>TCA370806831CHRNA2c.1550T>A (p.Ile517Asn)
c.1505T>A (p.Ile502Asn)
n.375T>A
c.1484T>A (p.Ile495Asn)
c.*952T>A (n.*952T>A)
c.1073T>A (p.Ile358Asn)
c.956T>A (p.Ile319Asn)
8g.27461670T>ACA370806838CHRNA2c.1549A>T (p.Ile517Phe)
c.1504A>T (p.Ile502Phe)
n.374A>T
c.1483A>T (p.Ile495Phe)
c.*951A>T (n.*951A>T)
c.1072A>T (p.Ile358Phe)
c.955A>T (p.Ile319Phe)
8g.27461670T>CCA370806839CHRNA2c.1549A>G (p.Ile517Val)
c.1504A>G (p.Ile502Val)
n.374A>G
c.1483A>G (p.Ile495Val)
c.*951A>G (n.*951A>G)
c.1072A>G (p.Ile358Val)
c.955A>G (p.Ile319Val)
 dbSNP
8g.27461670T>GCA370806842CHRNA2c.1549A>C (p.Ile517Leu)
c.1504A>C (p.Ile502Leu)
n.374A>C
c.1483A>C (p.Ile495Leu)
c.*951A>C (n.*951A>C)
c.1072A>C (p.Ile358Leu)
c.955A>C (p.Ile319Leu)
8g.27461671G>ACA460046558CHRNA2c.1548C>T (p.Thr516=)
c.1503C>T (p.Thr501=)
n.373C>T
c.1482C>T (p.Thr494=)
c.*950C>T (n.*950C>T)
c.1071C>T (p.Thr357=)
c.954C>T (p.Thr318=)
 dbSNP gnomAD v4
8g.27461671G>CCA460046559CHRNA2c.1548C>G (p.Thr516=)
c.1503C>G (p.Thr501=)
n.373C>G
c.1482C>G (p.Thr494=)
c.*950C>G (n.*950C>G)
c.1071C>G (p.Thr357=)
c.954C>G (p.Thr318=)
8g.27461671G=CA1772811637CHRNA2c.1548C= (p.Thr516=)
c.1503C= (p.Thr501=)
n.373C=
c.1482C= (p.Thr494=)
c.*950C= (n.*950C=)
c.1071C= (p.Thr357=)
c.954C= (p.Thr318=)
8g.27461671G>TCA460046560CHRNA2c.1548C>A (p.Thr516=)
c.1503C>A (p.Thr501=)
n.373C>A
c.1482C>A (p.Thr494=)
c.*950C>A (n.*950C>A)
c.1071C>A (p.Thr357=)
c.954C>A (p.Thr318=)
8g.27461672G>ACA4689409CHRNA2c.1547C>T (p.Thr516Ile)
c.1502C>T (p.Thr501Ile)
n.372C>T
c.1481C>T (p.Thr494Ile)
c.*949C>T (n.*949C>T)
c.1070C>T (p.Thr357Ile)
c.953C>T (p.Thr318Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461672G>CCA370806845CHRNA2c.1547C>G (p.Thr516Ser)
c.1502C>G (p.Thr501Ser)
n.372C>G
c.1481C>G (p.Thr494Ser)
c.*949C>G (n.*949C>G)
c.1070C>G (p.Thr357Ser)
c.953C>G (p.Thr318Ser)
8g.27461672G=CA1772811639CHRNA2c.1547C= (p.Thr516=)
c.1502C= (p.Thr501=)
n.372C=
c.1481C= (p.Thr494=)
c.*949C= (n.*949C=)
c.1070C= (p.Thr357=)
c.953C= (p.Thr318=)
8g.27461672G>TCA370806847CHRNA2c.1547C>A (p.Thr516Asn)
c.1502C>A (p.Thr501Asn)
n.372C>A
c.1481C>A (p.Thr494Asn)
c.*949C>A (n.*949C>A)
c.1070C>A (p.Thr357Asn)
c.953C>A (p.Thr318Asn)
8g.27461673delCA2579127491CHRNA2c.1546del (p.Thr516ProfsTer10)
c.1501del (p.Thr501ProfsTer10)
n.371del
c.1480del (p.Thr494ProfsTer10)
c.*948del (n.*948del)
c.1069del (p.Thr357ProfsTer10)
c.952del (p.Thr318ProfsTer10)
8g.27461673T>ACA370806852CHRNA2c.1546A>T (p.Thr516Ser)
c.1501A>T (p.Thr501Ser)
n.371A>T
c.1480A>T (p.Thr494Ser)
c.*948A>T (n.*948A>T)
c.1069A>T (p.Thr357Ser)
c.952A>T (p.Thr318Ser)
8g.27461673T>CCA370806855CHRNA2c.1546A>G (p.Thr516Ala)
c.1501A>G (p.Thr501Ala)
n.371A>G
c.1480A>G (p.Thr494Ala)
c.*948A>G (n.*948A>G)
c.1069A>G (p.Thr357Ala)
c.952A>G (p.Thr318Ala)
 gnomAD v4
8g.27461673T>GCA370806856CHRNA2c.1546A>C (p.Thr516Pro)
c.1501A>C (p.Thr501Pro)
n.371A>C
c.1480A>C (p.Thr494Pro)
c.*948A>C (n.*948A>C)
c.1069A>C (p.Thr357Pro)
c.952A>C (p.Thr318Pro)
 dbSNP gnomAD v2
8g.27461673T=CA1772811642CHRNA2c.1546A= (p.Thr516=)
c.1501A= (p.Thr501=)
n.371A=
c.1480A= (p.Thr494=)
c.*948A= (n.*948A=)
c.1069A= (p.Thr357=)
c.952A= (p.Thr318=)
8g.27461674C>ACA460046561CHRNA2c.1545G>T (p.Gly515=)
c.1500G>T (p.Gly500=)
n.370G>T
c.1479G>T (p.Gly493=)
c.*947G>T (n.*947G>T)
c.1068G>T (p.Gly356=)
c.951G>T (p.Gly317=)
 gnomAD v4
8g.27461674C=CA1772811644CHRNA2c.1545G= (p.Gly515=)
c.1500G= (p.Gly500=)
n.370G=
c.1479G= (p.Gly493=)
c.*947G= (n.*947G=)
c.1068G= (p.Gly356=)
c.951G= (p.Gly317=)
8g.27461674C>GCA460046562CHRNA2c.1545G>C (p.Gly515=)
c.1500G>C (p.Gly500=)
n.370G>C
c.1479G>C (p.Gly493=)
c.*947G>C (n.*947G>C)
c.1068G>C (p.Gly356=)
c.951G>C (p.Gly317=)
8g.27461674C>TCA460046563CHRNA2c.1545G>A (p.Gly515=)
c.1500G>A (p.Gly500=)
n.370G>A
c.1479G>A (p.Gly493=)
c.*947G>A (n.*947G>A)
c.1068G>A (p.Gly356=)
c.951G>A (p.Gly317=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461675_27461688dupCA2686677828CHRNA2c.1532_1545dup (p.Thr516SerfsTer15)
c.1487_1500dup (p.Thr501SerfsTer15)
n.357_370dup
c.1466_1479dup (p.Thr494SerfsTer15)
c.*934_*947dup (n.*934_*947dup)
c.1055_1068dup (p.Thr357SerfsTer15)
c.938_951dup (p.Thr318SerfsTer15)
 gnomAD v4
8g.27461675C>ACA370806859CHRNA2c.1544G>T (p.Gly515Val)
c.1499G>T (p.Gly500Val)
n.369G>T
c.1478G>T (p.Gly493Val)
c.*946G>T (n.*946G>T)
c.1067G>T (p.Gly356Val)
c.950G>T (p.Gly317Val)
8g.27461675C=CA1772811646CHRNA2c.1544G= (p.Gly515=)
c.1499G= (p.Gly500=)
n.369G=
c.1478G= (p.Gly493=)
c.*946G= (n.*946G=)
c.1067G= (p.Gly356=)
c.950G= (p.Gly317=)
8g.27461675C>GCA370806861CHRNA2c.1544G>C (p.Gly515Ala)
c.1499G>C (p.Gly500Ala)
n.369G>C
c.1478G>C (p.Gly493Ala)
c.*946G>C (n.*946G>C)
c.1067G>C (p.Gly356Ala)
c.950G>C (p.Gly317Ala)
 dbSNP gnomAD v4
8g.27461675C>TCA370806862CHRNA2c.1544G>A (p.Gly515Glu)
c.1499G>A (p.Gly500Glu)
n.369G>A
c.1478G>A (p.Gly493Glu)
c.*946G>A (n.*946G>A)
c.1067G>A (p.Gly356Glu)
c.950G>A (p.Gly317Glu)
 ClinVar dbSNP gnomAD v4
8g.27461676C>ACA370806865CHRNA2c.1543G>T (p.Gly515Trp)
c.1498G>T (p.Gly500Trp)
n.368G>T
c.1477G>T (p.Gly493Trp)
c.*945G>T (n.*945G>T)
c.1066G>T (p.Gly356Trp)
c.949G>T (p.Gly317Trp)
 COSMIC
8g.27461676C>GCA370806867CHRNA2c.1543G>C (p.Gly515Arg)
c.1498G>C (p.Gly500Arg)
n.368G>C
c.1477G>C (p.Gly493Arg)
c.*945G>C (n.*945G>C)
c.1066G>C (p.Gly356Arg)
c.949G>C (p.Gly317Arg)
8g.27461676C>TCA370806864CHRNA2c.1543G>A (p.Gly515Arg)
c.1498G>A (p.Gly500Arg)
n.368G>A
c.1477G>A (p.Gly493Arg)
c.*945G>A (n.*945G>A)
c.1066G>A (p.Gly356Arg)
c.949G>A (p.Gly317Arg)
8g.27461677C>ACA460046564CHRNA2c.1542G>T (p.Leu514=)
c.1497G>T (p.Leu499=)
n.367G>T
c.1476G>T (p.Leu492=)
c.*944G>T (n.*944G>T)
c.1065G>T (p.Leu355=)
c.948G>T (p.Leu316=)
8g.27461677C=CA1772811649CHRNA2c.1542G= (p.Leu514=)
c.1497G= (p.Leu499=)
n.367G=
c.1476G= (p.Leu492=)
c.*944G= (n.*944G=)
c.1065G= (p.Leu355=)
c.948G= (p.Leu316=)
8g.27461677C>GCA460046565CHRNA2c.1542G>C (p.Leu514=)
c.1497G>C (p.Leu499=)
n.367G>C
c.1476G>C (p.Leu492=)
c.*944G>C (n.*944G>C)
c.1065G>C (p.Leu355=)
c.948G>C (p.Leu316=)
8g.27461677C>TCA174237159CHRNA2c.1542G>A (p.Leu514=)
c.1497G>A (p.Leu499=)
n.367G>A
c.1476G>A (p.Leu492=)
c.*944G>A (n.*944G>A)
c.1065G>A (p.Leu355=)
c.948G>A (p.Leu316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461678A=CA1772811653CHRNA2c.1541T= (p.Leu514=)
c.1496T= (p.Leu499=)
n.366T=
c.1475T= (p.Leu492=)
c.*943T= (n.*943T=)
c.1064T= (p.Leu355=)
c.947T= (p.Leu316=)
8g.27461678A>CCA370806870CHRNA2c.1541T>G (p.Leu514Arg)
c.1496T>G (p.Leu499Arg)
n.366T>G
c.1475T>G (p.Leu492Arg)
c.*943T>G (n.*943T>G)
c.1064T>G (p.Leu355Arg)
c.947T>G (p.Leu316Arg)
8g.27461678A>GCA370806872CHRNA2c.1541T>C (p.Leu514Pro)
c.1496T>C (p.Leu499Pro)
n.366T>C
c.1475T>C (p.Leu492Pro)
c.*943T>C (n.*943T>C)
c.1064T>C (p.Leu355Pro)
c.947T>C (p.Leu316Pro)
 ClinVar dbSNP
8g.27461678A>TCA370806871CHRNA2c.1541T>A (p.Leu514Gln)
c.1496T>A (p.Leu499Gln)
n.366T>A
c.1475T>A (p.Leu492Gln)
c.*943T>A (n.*943T>A)
c.1064T>A (p.Leu355Gln)
c.947T>A (p.Leu316Gln)
 ClinVar dbSNP
8g.27461679G>ACA460046566CHRNA2c.1540C>T (p.Leu514=)
c.1495C>T (p.Leu499=)
n.365C>T
c.1474C>T (p.Leu492=)
c.*942C>T (n.*942C>T)
c.1063C>T (p.Leu355=)
c.946C>T (p.Leu316=)
8g.27461679G>CCA370806873CHRNA2c.1540C>G (p.Leu514Val)
c.1495C>G (p.Leu499Val)
n.365C>G
c.1474C>G (p.Leu492Val)
c.*942C>G (n.*942C>G)
c.1063C>G (p.Leu355Val)
c.946C>G (p.Leu316Val)
 gnomAD v4
8g.27461679G>TCA370806874CHRNA2c.1540C>A (p.Leu514Met)
c.1495C>A (p.Leu499Met)
n.365C>A
c.1474C>A (p.Leu492Met)
c.*942C>A (n.*942C>A)
c.1063C>A (p.Leu355Met)
c.946C>A (p.Leu316Met)
8g.27461680G>ACA460046567CHRNA2c.1539C>T (p.Phe513=)
c.1494C>T (p.Phe498=)
n.364C>T
c.1473C>T (p.Phe491=)
c.*941C>T (n.*941C>T)
c.1062C>T (p.Phe354=)
c.945C>T (p.Phe315=)
 ClinVar
8g.27461680G>CCA370806875CHRNA2c.1539C>G (p.Phe513Leu)
c.1494C>G (p.Phe498Leu)
n.364C>G
c.1473C>G (p.Phe491Leu)
c.*941C>G (n.*941C>G)
c.1062C>G (p.Phe354Leu)
c.945C>G (p.Phe315Leu)
8g.27461680G>TCA370806876CHRNA2c.1539C>A (p.Phe513Leu)
c.1494C>A (p.Phe498Leu)
n.364C>A
c.1473C>A (p.Phe491Leu)
c.*941C>A (n.*941C>A)
c.1062C>A (p.Phe354Leu)
c.945C>A (p.Phe315Leu)
8g.27461681A>CCA370806877CHRNA2c.1538T>G (p.Phe513Cys)
c.1493T>G (p.Phe498Cys)
n.363T>G
c.1472T>G (p.Phe491Cys)
c.*940T>G (n.*940T>G)
c.1061T>G (p.Phe354Cys)
c.944T>G (p.Phe315Cys)
8g.27461681A>GCA370806878CHRNA2c.1538T>C (p.Phe513Ser)
c.1493T>C (p.Phe498Ser)
n.363T>C
c.1472T>C (p.Phe491Ser)
c.*940T>C (n.*940T>C)
c.1061T>C (p.Phe354Ser)
c.944T>C (p.Phe315Ser)
8g.27461681A>TCA370806880CHRNA2c.1538T>A (p.Phe513Tyr)
c.1493T>A (p.Phe498Tyr)
n.363T>A
c.1472T>A (p.Phe491Tyr)
c.*940T>A (n.*940T>A)
c.1061T>A (p.Phe354Tyr)
c.944T>A (p.Phe315Tyr)
8g.27461682A=CA1772811659CHRNA2c.1537T= (p.Phe513=)
c.1492T= (p.Phe498=)
n.362T=
c.1471T= (p.Phe491=)
c.*939T= (n.*939T=)
c.1060T= (p.Phe354=)
c.943T= (p.Phe315=)
8g.27461682A>CCA370806883CHRNA2c.1537T>G (p.Phe513Val)
c.1492T>G (p.Phe498Val)
n.362T>G
c.1471T>G (p.Phe491Val)
c.*939T>G (n.*939T>G)
c.1060T>G (p.Phe354Val)
c.943T>G (p.Phe315Val)
8g.27461682A>GCA370806885CHRNA2c.1537T>C (p.Phe513Leu)
c.1492T>C (p.Phe498Leu)
n.362T>C
c.1471T>C (p.Phe491Leu)
c.*939T>C (n.*939T>C)
c.1060T>C (p.Phe354Leu)
c.943T>C (p.Phe315Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461682A>TCA370806886CHRNA2c.1537T>A (p.Phe513Ile)
c.1492T>A (p.Phe498Ile)
n.362T>A
c.1471T>A (p.Phe491Ile)
c.*939T>A (n.*939T>A)
c.1060T>A (p.Phe354Ile)
c.943T>A (p.Phe315Ile)
8g.27461683G>ACA460046568CHRNA2c.1536C>T (p.Cys512=)
c.1491C>T (p.Cys497=)
n.361C>T
c.1470C>T (p.Cys490=)
c.*938C>T (n.*938C>T)
c.1059C>T (p.Cys353=)
c.942C>T (p.Cys314=)
8g.27461683G>CCA370806899CHRNA2c.1536C>G (p.Cys512Trp)
c.1491C>G (p.Cys497Trp)
n.361C>G
c.1470C>G (p.Cys490Trp)
c.*938C>G (n.*938C>G)
c.1059C>G (p.Cys353Trp)
c.942C>G (p.Cys314Trp)
8g.27461683G>TCA370806903CHRNA2c.1536C>A (p.Cys512Ter)
c.1491C>A (p.Cys497Ter)
n.361C>A
c.1470C>A (p.Cys490Ter)
c.*938C>A (n.*938C>A)
c.1059C>A (p.Cys353Ter)
c.942C>A (p.Cys314Ter)
8g.27461684C>ACA370806913CHRNA2c.1535G>T (p.Cys512Phe)
c.1490G>T (p.Cys497Phe)
n.360G>T
c.1469G>T (p.Cys490Phe)
c.*937G>T (n.*937G>T)
c.1058G>T (p.Cys353Phe)
c.941G>T (p.Cys314Phe)
 ClinVar dbSNP
8g.27461684C=CA1772811662CHRNA2c.1535G= (p.Cys512=)
c.1490G= (p.Cys497=)
n.360G=
c.1469G= (p.Cys490=)
c.*937G= (n.*937G=)
c.1058G= (p.Cys353=)
c.941G= (p.Cys314=)
8g.27461684C>GCA370806911CHRNA2c.1535G>C (p.Cys512Ser)
c.1490G>C (p.Cys497Ser)
n.360G>C
c.1469G>C (p.Cys490Ser)
c.*937G>C (n.*937G>C)
c.1058G>C (p.Cys353Ser)
c.941G>C (p.Cys314Ser)
8g.27461684C>TCA370806909CHRNA2c.1535G>A (p.Cys512Tyr)
c.1490G>A (p.Cys497Tyr)
n.360G>A
c.1469G>A (p.Cys490Tyr)
c.*937G>A (n.*937G>A)
c.1058G>A (p.Cys353Tyr)
c.941G>A (p.Cys314Tyr)
 gnomAD v4
8g.27461685A=CA1772811664CHRNA2c.1534T= (p.Cys512=)
c.1489T= (p.Cys497=)
n.359T=
c.1468T= (p.Cys490=)
c.*936T= (n.*936T=)
c.1057T= (p.Cys353=)
c.940T= (p.Cys314=)
8g.27461685A>CCA370806918CHRNA2c.1534T>G (p.Cys512Gly)
c.1489T>G (p.Cys497Gly)
n.359T>G
c.1468T>G (p.Cys490Gly)
c.*936T>G (n.*936T>G)
c.1057T>G (p.Cys353Gly)
c.940T>G (p.Cys314Gly)
8g.27461685A>GCA370806927CHRNA2c.1534T>C (p.Cys512Arg)
c.1489T>C (p.Cys497Arg)
n.359T>C
c.1468T>C (p.Cys490Arg)
c.*936T>C (n.*936T>C)
c.1057T>C (p.Cys353Arg)
c.940T>C (p.Cys314Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.27461685A>TCA370806929CHRNA2c.1534T>A (p.Cys512Ser)
c.1489T>A (p.Cys497Ser)
n.359T>A
c.1468T>A (p.Cys490Ser)
c.*936T>A (n.*936T>A)
c.1057T>A (p.Cys353Ser)
c.940T>A (p.Cys314Ser)
8g.27461686G>ACA460046569CHRNA2c.1533C>T (p.Val511=)
c.1488C>T (p.Val496=)
n.358C>T
c.1467C>T (p.Val489=)
c.*935C>T (n.*935C>T)
c.1056C>T (p.Val352=)
c.939C>T (p.Val313=)
 gnomAD v4
8g.27461686G>CCA460046570CHRNA2c.1533C>G (p.Val511=)
c.1488C>G (p.Val496=)
n.358C>G
c.1467C>G (p.Val489=)
c.*935C>G (n.*935C>G)
c.1056C>G (p.Val352=)
c.939C>G (p.Val313=)
 ClinVar
8g.27461686G>TCA460046571CHRNA2c.1533C>A (p.Val511=)
c.1488C>A (p.Val496=)
n.358C>A
c.1467C>A (p.Val489=)
c.*935C>A (n.*935C>A)
c.1056C>A (p.Val352=)
c.939C>A (p.Val313=)
8g.27461687A>CCA370806934CHRNA2c.1532T>G (p.Val511Gly)
c.1487T>G (p.Val496Gly)
n.357T>G
c.1466T>G (p.Val489Gly)
c.*934T>G (n.*934T>G)
c.1055T>G (p.Val352Gly)
c.938T>G (p.Val313Gly)
8g.27461687A>GCA370806945CHRNA2c.1532T>C (p.Val511Ala)
c.1487T>C (p.Val496Ala)
n.357T>C
c.1466T>C (p.Val489Ala)
c.*934T>C (n.*934T>C)
c.1055T>C (p.Val352Ala)
c.938T>C (p.Val313Ala)
8g.27461687A>TCA370806948CHRNA2c.1532T>A (p.Val511Asp)
c.1487T>A (p.Val496Asp)
n.357T>A
c.1466T>A (p.Val489Asp)
c.*934T>A (n.*934T>A)
c.1055T>A (p.Val352Asp)
c.938T>A (p.Val313Asp)
8g.27461688C>ACA370806950CHRNA2c.1531G>T (p.Val511Phe)
c.1486G>T (p.Val496Phe)
n.356G>T
c.1465G>T (p.Val489Phe)
c.*933G>T (n.*933G>T)
c.1054G>T (p.Val352Phe)
c.937G>T (p.Val313Phe)
8g.27461688C=CA1772811673CHRNA2c.1531G= (p.Val511=)
c.1486G= (p.Val496=)
n.356G=
c.1465G= (p.Val489=)
c.*933G= (n.*933G=)
c.1054G= (p.Val352=)
c.937G= (p.Val313=)
8g.27461688C>GCA313474CHRNA2c.1531G>C (p.Val511Leu)
c.1486G>C (p.Val496Leu)
n.356G>C
c.1465G>C (p.Val489Leu)
c.*933G>C (n.*933G>C)
c.1054G>C (p.Val352Leu)
c.937G>C (p.Val313Leu)
 ClinVar dbSNP gnomAD v4
8g.27461688C>TCA174237170CHRNA2c.1531G>A (p.Val511Ile)
c.1486G>A (p.Val496Ile)
n.356G>A
c.1465G>A (p.Val489Ile)
c.*933G>A (n.*933G>A)
c.1054G>A (p.Val352Ile)
c.937G>A (p.Val313Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27461689G>ACA4689410CHRNA2c.1530C>T (p.Ile510=)
c.1485C>T (p.Ile495=)
n.355C>T
c.1464C>T (p.Ile488=)
c.*932C>T (n.*932C>T)
c.1053C>T (p.Ile351=)
c.936C>T (p.Ile312=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461689G>CCA370806959CHRNA2c.1530C>G (p.Ile510Met)
c.1485C>G (p.Ile495Met)
n.355C>G
c.1464C>G (p.Ile488Met)
c.*932C>G (n.*932C>G)
c.1053C>G (p.Ile351Met)
c.936C>G (p.Ile312Met)
8g.27461689G=CA1772811682CHRNA2c.1530C= (p.Ile510=)
c.1485C= (p.Ile495=)
n.355C=
c.1464C= (p.Ile488=)
c.*932C= (n.*932C=)
c.1053C= (p.Ile351=)
c.936C= (p.Ile312=)
8g.27461689G>TCA460046572CHRNA2c.1530C>A (p.Ile510=)
c.1485C>A (p.Ile495=)
n.355C>A
c.1464C>A (p.Ile488=)
c.*932C>A (n.*932C>A)
c.1053C>A (p.Ile351=)
c.936C>A (p.Ile312=)
8g.27461690A=CA1772811687CHRNA2c.1529T= (p.Ile510=)
c.1484T= (p.Ile495=)
n.354T=
c.1463T= (p.Ile488=)
c.*931T= (n.*931T=)
c.1052T= (p.Ile351=)
c.935T= (p.Ile312=)
8g.27461690A>CCA370806964CHRNA2c.1529T>G (p.Ile510Ser)
c.1484T>G (p.Ile495Ser)
n.354T>G
c.1463T>G (p.Ile488Ser)
c.*931T>G (n.*931T>G)
c.1052T>G (p.Ile351Ser)
c.935T>G (p.Ile312Ser)
8g.27461690A>GCA370806966CHRNA2c.1529T>C (p.Ile510Thr)
c.1484T>C (p.Ile495Thr)
n.354T>C
c.1463T>C (p.Ile488Thr)
c.*931T>C (n.*931T>C)
c.1052T>C (p.Ile351Thr)
c.935T>C (p.Ile312Thr)
 ClinVar dbSNP gnomAD v4
8g.27461690A>TCA370806962CHRNA2c.1529T>A (p.Ile510Asn)
c.1484T>A (p.Ile495Asn)
n.354T>A
c.1463T>A (p.Ile488Asn)
c.*931T>A (n.*931T>A)
c.1052T>A (p.Ile351Asn)
c.935T>A (p.Ile312Asn)
8g.27461691T>ACA370806971CHRNA2c.1528A>T (p.Ile510Phe)
c.1483A>T (p.Ile495Phe)
n.353A>T
c.1462A>T (p.Ile488Phe)
c.*930A>T (n.*930A>T)
c.1051A>T (p.Ile351Phe)
c.934A>T (p.Ile312Phe)
8g.27461691T>CCA4689411CHRNA2c.1528A>G (p.Ile510Val)
c.1483A>G (p.Ile495Val)
n.353A>G
c.1462A>G (p.Ile488Val)
c.*930A>G (n.*930A>G)
c.1051A>G (p.Ile351Val)
c.934A>G (p.Ile312Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27461691T>GCA370806974CHRNA2c.1528A>C (p.Ile510Leu)
c.1483A>C (p.Ile495Leu)
n.353A>C
c.1462A>C (p.Ile488Leu)
c.*930A>C (n.*930A>C)
c.1051A>C (p.Ile351Leu)
c.934A>C (p.Ile312Leu)
8g.27461691T=CA1772811691CHRNA2c.1528A= (p.Ile510=)
c.1483A= (p.Ile495=)
n.353A=
c.1462A= (p.Ile488=)
c.*930A= (n.*930A=)
c.1051A= (p.Ile351=)
c.934A= (p.Ile312=)
8g.27461692G>ACA460046573CHRNA2c.1527C>T (p.Ile509=)
c.1482C>T (p.Ile494=)
n.352C>T
c.1461C>T (p.Ile487=)
c.*929C>T (n.*929C>T)
c.1050C>T (p.Ile350=)
c.933C>T (p.Ile311=)
8g.27461692G>CCA370806977CHRNA2c.1527C>G (p.Ile509Met)
c.1482C>G (p.Ile494Met)
n.352C>G
c.1461C>G (p.Ile487Met)
c.*929C>G (n.*929C>G)
c.1050C>G (p.Ile350Met)
c.933C>G (p.Ile311Met)
8g.27461692G>TCA460046574CHRNA2c.1527C>A (p.Ile509=)
c.1482C>A (p.Ile494=)
n.352C>A
c.1461C>A (p.Ile487=)
c.*929C>A (n.*929C>A)
c.1050C>A (p.Ile350=)
c.933C>A (p.Ile311=)
8g.27461693A>CCA370806985CHRNA2c.1526T>G (p.Ile509Ser)
c.1481T>G (p.Ile494Ser)
n.351T>G
c.1460T>G (p.Ile487Ser)
c.*928T>G (n.*928T>G)
c.1049T>G (p.Ile350Ser)
c.932T>G (p.Ile311Ser)
8g.27461693A>GCA370806983CHRNA2c.1526T>C (p.Ile509Thr)
c.1481T>C (p.Ile494Thr)
n.351T>C
c.1460T>C (p.Ile487Thr)
c.*928T>C (n.*928T>C)
c.1049T>C (p.Ile350Thr)
c.932T>C (p.Ile311Thr)
8g.27461693A>TCA370806981CHRNA2c.1526T>A (p.Ile509Asn)
c.1481T>A (p.Ile494Asn)
n.351T>A
c.1460T>A (p.Ile487Asn)
c.*928T>A (n.*928T>A)
c.1049T>A (p.Ile350Asn)
c.932T>A (p.Ile311Asn)
8g.27461694T>ACA370806989CHRNA2c.1525A>T (p.Ile509Phe)
c.1480A>T (p.Ile494Phe)
n.350A>T
c.1459A>T (p.Ile487Phe)
c.*927A>T (n.*927A>T)
c.1048A>T (p.Ile350Phe)
c.931A>T (p.Ile311Phe)
8g.27461694T>CCA370806992CHRNA2c.1525A>G (p.Ile509Val)
c.1480A>G (p.Ile494Val)
n.350A>G
c.1459A>G (p.Ile487Val)
c.*927A>G (n.*927A>G)
c.1048A>G (p.Ile350Val)
c.931A>G (p.Ile311Val)
8g.27461694T>GCA370806996CHRNA2c.1525A>C (p.Ile509Leu)
c.1480A>C (p.Ile494Leu)
n.350A>C
c.1459A>C (p.Ile487Leu)
c.*927A>C (n.*927A>C)
c.1048A>C (p.Ile350Leu)
c.931A>C (p.Ile311Leu)
 gnomAD v4
8g.27461694T=CA1772811700CHRNA2c.1525A= (p.Ile509=)
c.1480A= (p.Ile494=)
n.350A=
c.1459A= (p.Ile487=)
c.*927A= (n.*927A=)
c.1048A= (p.Ile350=)
c.931A= (p.Ile311=)
8g.27461695A=CA1772811704CHRNA2c.1524T= (p.Phe508=)
c.1479T= (p.Phe493=)
n.349T=
c.1458T= (p.Phe486=)
c.*926T= (n.*926T=)
c.1047T= (p.Phe349=)
c.930T= (p.Phe310=)
8g.27461695A>CCA370807000CHRNA2c.1524T>G (p.Phe508Leu)
c.1479T>G (p.Phe493Leu)
n.349T>G
c.1458T>G (p.Phe486Leu)
c.*926T>G (n.*926T>G)
c.1047T>G (p.Phe349Leu)
c.930T>G (p.Phe310Leu)
8g.27461695A>GCA460046575CHRNA2c.1524T>C (p.Phe508=)
c.1479T>C (p.Phe493=)
n.349T>C
c.1458T>C (p.Phe486=)
c.*926T>C (n.*926T>C)
c.1047T>C (p.Phe349=)
c.930T>C (p.Phe310=)
 dbSNP
8g.27461695A>TCA370807004CHRNA2c.1524T>A (p.Phe508Leu)
c.1479T>A (p.Phe493Leu)
n.349T>A
c.1458T>A (p.Phe486Leu)
c.*926T>A (n.*926T>A)
c.1047T>A (p.Phe349Leu)
c.930T>A (p.Phe310Leu)
8g.27461697dupCA4689412CHRNA2c.1524dup (p.Ile509TyrfsTer?)
c.1479dup (p.Ile494TyrfsTer?)
n.349dup
c.1458dup (p.Ile487TyrfsTer?)
c.*926dup (n.*926dup)
c.1047dup (p.Ile350TyrfsTer?)
c.930dup (p.Ile311TyrfsTer?)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.27461696A>CCA370807007CHRNA2c.1523T>G (p.Phe508Cys)
c.1478T>G (p.Phe493Cys)
n.348T>G
c.1457T>G (p.Phe486Cys)
c.*925T>G (n.*925T>G)
c.1046T>G (p.Phe349Cys)
c.929T>G (p.Phe310Cys)
8g.27461696A>GCA370807011CHRNA2c.1523T>C (p.Phe508Ser)
c.1478T>C (p.Phe493Ser)
n.348T>C
c.1457T>C (p.Phe486Ser)
c.*925T>C (n.*925T>C)
c.1046T>C (p.Phe349Ser)
c.929T>C (p.Phe310Ser)
8g.27461696A>TCA370807010CHRNA2c.1523T>A (p.Phe508Tyr)
c.1478T>A (p.Phe493Tyr)
n.348T>A
c.1457T>A (p.Phe486Tyr)
c.*925T>A (n.*925T>A)
c.1046T>A (p.Phe349Tyr)
c.929T>A (p.Phe310Tyr)

Number of alleles fetched