Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.27461593G>A | CA460046528 | CHRNA2 | c.*36C>T (n.*36C>T) n.451C>T c.*1028C>T (n.*1028C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461593G>C | CA2686677815 | CHRNA2 | c.*36C>G (n.*36C>G) n.451C>G c.*1028C>G (n.*1028C>G) | gnomAD v4 |
8 | g.27461593G= | CA1772811495 | CHRNA2 | c.*36C= (n.*36C=) n.451C= c.*1028C= (n.*1028C=) | |
8 | g.27461596G>C | CA174237053 | CHRNA2 | c.*33C>G (n.*33C>G) n.448C>G c.*1025C>G (n.*1025C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461596G= | CA1772811500 | CHRNA2 | c.*33C= (n.*33C=) n.448C= c.*1025C= (n.*1025C=) | |
8 | g.27461596G>T | CA4689391 | CHRNA2 | c.*33C>A (n.*33C>A) n.448C>A c.*1025C>A (n.*1025C>A) | dbSNP ExAC |
8 | g.27461597G>A | CA850382646 | CHRNA2 | c.*32C>T (n.*32C>T) n.447C>T c.*1024C>T (n.*1024C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27461597G= | CA1772811503 | CHRNA2 | c.*32C= (n.*32C=) n.447C= c.*1024C= (n.*1024C=) | |
8 | g.27461598T>C | CA580667772 | CHRNA2 | c.*31A>G (n.*31A>G) n.446A>G c.*1023A>G (n.*1023A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27461598T>G | CA1772811507 | CHRNA2 | c.*31A>C (n.*31A>C) n.446A>C c.*1023A>C (n.*1023A>C) | dbSNP |
8 | g.27461598T= | CA1772811505 | CHRNA2 | c.*31A= (n.*31A=) n.446A= c.*1023A= (n.*1023A=) | |
8 | g.27461599G>A | CA4689392 | CHRNA2 | c.*30C>T (n.*30C>T) n.445C>T c.*1022C>T (n.*1022C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27461599G>C | CA580667773 | CHRNA2 | c.*30C>G (n.*30C>G) n.445C>G c.*1022C>G (n.*1022C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27461599G= | CA1772811510 | CHRNA2 | c.*30C= (n.*30C=) n.445C= c.*1022C= (n.*1022C=) | |
8 | g.27461599G>T | CA2686677816 | CHRNA2 | c.*30C>A (n.*30C>A) n.445C>A c.*1022C>A (n.*1022C>A) | gnomAD v4 |
8 | g.27461600C>A | CA2686677817 | CHRNA2 | c.*29G>T (n.*29G>T) n.444G>T c.*1021G>T (n.*1021G>T) | gnomAD v4 |
8 | g.27461600C= | CA1772811512 | CHRNA2 | c.*29G= (n.*29G=) n.444G= c.*1021G= (n.*1021G=) | |
8 | g.27461600C>T | CA4689393 | CHRNA2 | c.*29G>A (n.*29G>A) n.444G>A c.*1021G>A (n.*1021G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461601C>G | CA2686677818 | CHRNA2 | c.*28G>C (n.*28G>C) n.443G>C c.*1020G>C (n.*1020G>C) | gnomAD v4 |
8 | g.27461601C>T | CA2779503634 | CHRNA2 | c.*28G>A (n.*28G>A) n.443G>A c.*1020G>A (n.*1020G>A) | |
8 | g.27461602C>T | CA2686677819 | CHRNA2 | c.*27G>A (n.*27G>A) n.442G>A c.*1019G>A (n.*1019G>A) | gnomAD v4 |
8 | g.27461603T>C | CA2686677820 | CHRNA2 | c.*26A>G (n.*26A>G) n.441A>G c.*1018A>G (n.*1018A>G) | gnomAD v4 |
8 | g.27461603T>G | CA2686677821 | CHRNA2 | c.*26A>C (n.*26A>C) n.441A>C c.*1018A>C (n.*1018A>C) | gnomAD v4 |
8 | g.27461604G>A | CA2549981912 | CHRNA2 | c.*25C>T (n.*25C>T) n.440C>T c.*1017C>T (n.*1017C>T) | gnomAD v4 |
8 | g.27461604G>C | CA1772811521 | CHRNA2 | c.*25C>G (n.*25C>G) n.440C>G c.*1017C>G (n.*1017C>G) | dbSNP gnomAD v4 |
8 | g.27461604G= | CA1772811519 | CHRNA2 | c.*25C= (n.*25C=) n.440C= c.*1017C= (n.*1017C=) | |
8 | g.27461605G>A | CA580667774 | CHRNA2 | c.*24C>T (n.*24C>T) n.439C>T c.*1016C>T (n.*1016C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27461605G= | CA1772811523 | CHRNA2 | c.*24C= (n.*24C=) n.439C= c.*1016C= (n.*1016C=) | |
8 | g.27461606G>A | CA174237060 | CHRNA2 | c.*23C>T (n.*23C>T) n.438C>T c.*1015C>T (n.*1015C>T) | dbSNP |
8 | g.27461606G= | CA1772811525 | CHRNA2 | c.*23C= (n.*23C=) n.438C= c.*1015C= (n.*1015C=) | |
8 | g.27461608G>T | CA2579127487 | CHRNA2 | c.*21C>A (n.*21C>A) n.436C>A c.*1013C>A (n.*1013C>A) | |
8 | g.27461609C>T | CA2579127488 | CHRNA2 | c.*20G>A (n.*20G>A) n.435G>A c.*1012G>A (n.*1012G>A) | gnomAD v4 |
8 | g.27461610C>G | CA2686677822 | CHRNA2 | c.*19G>C (n.*19G>C) n.434G>C c.*1011G>C (n.*1011G>C) | gnomAD v4 |
8 | g.27461610C>T | CA2686677823 | CHRNA2 | c.*19G>A (n.*19G>A) n.434G>A c.*1011G>A (n.*1011G>A) | gnomAD v4 |
8 | g.27461612G>A | CA2686677824 | CHRNA2 | c.*17C>T (n.*17C>T) n.432C>T c.*1009C>T (n.*1009C>T) | gnomAD v4 |
8 | g.27461613C= | CA1772811527 | CHRNA2 | c.*16G= (n.*16G=) n.431G= c.*1008G= (n.*1008G=) | |
8 | g.27461613C>T | CA580667775 | CHRNA2 | c.*16G>A (n.*16G>A) n.431G>A c.*1008G>A (n.*1008G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27461615C= | CA1772811528 | CHRNA2 | c.*14G= (n.*14G=) n.429G= c.*1006G= (n.*1006G=) | |
8 | g.27461615C>G | CA1772811530 | CHRNA2 | c.*14G>C (n.*14G>C) n.429G>C c.*1006G>C (n.*1006G>C) | dbSNP |
8 | g.27461615C>T | CA4689394 | CHRNA2 | c.*14G>A (n.*14G>A) n.429G>A c.*1006G>A (n.*1006G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27461616G>A | CA4689395 | CHRNA2 | c.*13C>T (n.*13C>T) n.428C>T c.*1005C>T (n.*1005C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461616G>C | CA2686677825 | CHRNA2 | c.*13C>G (n.*13C>G) n.428C>G c.*1005C>G (n.*1005C>G) | gnomAD v4 |
8 | g.27461616G= | CA1772811532 | CHRNA2 | c.*13C= (n.*13C=) n.428C= c.*1005C= (n.*1005C=) | |
8 | g.27461618G>C | CA4689396 | CHRNA2 | c.*11C>G (n.*11C>G) n.426C>G c.*1003C>G (n.*1003C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461618G= | CA1772811535 | CHRNA2 | c.*11C= (n.*11C=) n.426C= c.*1003C= (n.*1003C=) | |
8 | g.27461619G>A | CA4689397 | CHRNA2 | c.*10C>T (n.*10C>T) n.425C>T c.*1002C>T (n.*1002C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461619G= | CA1772811536 | CHRNA2 | c.*10C= (n.*10C=) n.425C= c.*1002C= (n.*1002C=) | |
8 | g.27461620_27461621delinsGA | CA1772811538 | CHRNA2 | c.*8_*9delinsTC (n.*8_*9delinsTC) n.423_424delinsTC c.*1000_*1001delinsTC (n.*1000_*1001delinsTC) | |
8 | g.27461621del | CA4689398 | CHRNA2 | c.*8del (n.*8del) n.423del c.*1000del (n.*1000del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461621A= | CA1772811540 | CHRNA2 | c.*8T= (n.*8T=) n.423T= c.*1000T= (n.*1000T=) | |
8 | g.27461621A>G | CA4689399 | CHRNA2 | c.*8T>C (n.*8T>C) n.423T>C c.*1000T>C (n.*1000T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461621A>T | CA2579127489 | CHRNA2 | c.*8T>A (n.*8T>A) n.423T>A c.*1000T>A (n.*1000T>A) | gnomAD v4 |
8 | g.27461623del | CA370806562 | CHRNA2 | c.*7del (n.*7del) n.422del c.*999del (n.*999del) | |
8 | g.27461623G>A | CA1772811548 | CHRNA2 | c.*6C>T (n.*6C>T) n.421C>T c.*998C>T (n.*998C>T) | dbSNP |
8 | g.27461623G>C | CA2579127490 | CHRNA2 | c.*6C>G (n.*6C>G) n.421C>G c.*998C>G (n.*998C>G) | |
8 | g.27461623G= | CA1772811547 | CHRNA2 | c.*6C= (n.*6C=) n.421C= c.*998C= (n.*998C=) | |
8 | g.27461623G>T | CA2686677826 | CHRNA2 | c.*6C>A (n.*6C>A) n.421C>A c.*998C>A (n.*998C>A) | gnomAD v4 |
8 | g.27461624T>G | CA1772811550 | CHRNA2 | c.*5A>C (n.*5A>C) n.420A>C c.*997A>C (n.*997A>C) | dbSNP |
8 | g.27461624T= | CA1772811549 | CHRNA2 | c.*5A= (n.*5A=) n.420A= c.*997A= (n.*997A=) | |
8 | g.27461625G>A | CA174237094 | CHRNA2 | c.*4C>T (n.*4C>T) n.419C>T c.*996C>T (n.*996C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27461625G= | CA1772811552 | CHRNA2 | c.*4C= (n.*4C=) n.419C= c.*996C= (n.*996C=) | |
8 | g.27461626C= | CA1772811554 | CHRNA2 | c.*3G= (n.*3G=) n.418G= c.*995G= (n.*995G=) | |
8 | g.27461626C>T | CA4689400 | CHRNA2 | c.*3G>A (n.*3G>A) n.418G>A c.*995G>A (n.*995G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27461627A= | CA1772811556 | CHRNA2 | c.*2T= (n.*2T=) n.417T= c.*994T= (n.*994T=) | |
8 | g.27461627A>G | CA4689401 | CHRNA2 | c.*2T>C (n.*2T>C) n.417T>C c.*994T>C (n.*994T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27461629T>A | CA370806569 | CHRNA2 | c.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) | |
8 | g.27461629T>C | CA370806571 | CHRNA2 | c.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) | |
8 | g.27461629T>G | CA370806574 | CHRNA2 | c.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) | |
8 | g.27461630C>A | CA370806576 | CHRNA2 | c.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) | |
8 | g.27461630C>G | CA370806578 | CHRNA2 | c.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) | |
8 | g.27461630C>T | CA460046529 | CHRNA2 | c.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 |
8 | g.27461631A>C | CA370806581 | CHRNA2 | c.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) | |
8 | g.27461631A>G | CA370806584 | CHRNA2 | c.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) | |
8 | g.27461631A>T | CA370806585 | CHRNA2 | c.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) | |
8 | g.27461632G>A | CA460046530 | CHRNA2 | c.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 |
8 | g.27461632G>C | CA370806588 | CHRNA2 | c.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) | |
8 | g.27461632G= | CA1772811558 | CHRNA2 | c.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=) | |
8 | g.27461632G>T | CA460046531 | CHRNA2 | c.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 |
8 | g.27461633A>C | CA370806594 | CHRNA2 | c.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) | |
8 | g.27461633A>G | CA370806596 | CHRNA2 | c.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) | |
8 | g.27461633A>T | CA370806592 | CHRNA2 | c.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) | |
8 | g.27461634T>A | CA370806598 | CHRNA2 | c.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) | |
8 | g.27461634T>C | CA370806599 | CHRNA2 | c.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) | |
8 | g.27461634T>G | CA370806601 | CHRNA2 | c.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) | |
8 | g.27461635C>A | CA370806603 | CHRNA2 | c.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) | |
8 | g.27461635C>G | CA370806605 | CHRNA2 | c.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) | |
8 | g.27461635C>T | CA370806607 | CHRNA2 | c.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) | |
8 | g.27461636A= | CA1772811560 | CHRNA2 | c.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=) | |
8 | g.27461636A>C | CA370806611 | CHRNA2 | c.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) | |
8 | g.27461636A>G | CA370806613 | CHRNA2 | c.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 |
8 | g.27461636A>T | CA370806614 | CHRNA2 | c.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 |
8 | g.27461637T>A | CA370806617 | CHRNA2 | c.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) | |
8 | g.27461637T>C | CA370806618 | CHRNA2 | c.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 |
8 | g.27461637T>G | CA370806622 | CHRNA2 | c.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) | |
8 | g.27461638T>A | CA460046534 | CHRNA2 | c.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=) | |
8 | g.27461638T>C | CA460046532 | CHRNA2 | c.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=) | |
8 | g.27461638T>G | CA460046533 | CHRNA2 | c.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=) | |
8 | g.27461639C>A | CA370806626 | CHRNA2 | c.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) | |
8 | g.27461639C>G | CA370806628 | CHRNA2 | c.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) | |
8 | g.27461639C>T | CA370806624 | CHRNA2 | c.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 |
8 | g.27461640C>A | CA370806632 | CHRNA2 | c.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) | |
8 | g.27461640C>G | CA370806636 | CHRNA2 | c.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) | |
8 | g.27461640C>T | CA370806640 | CHRNA2 | c.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) | |
8 | g.27461641A>C | CA460046535 | CHRNA2 | c.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 |
8 | g.27461641A>G | CA460046536 | CHRNA2 | c.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=) | |
8 | g.27461641A>T | CA460046537 | CHRNA2 | c.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=) | |
8 | g.27461642G>A | CA370806643 | CHRNA2 | c.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) | |
8 | g.27461642G>C | CA370806644 | CHRNA2 | c.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) | |
8 | g.27461642G>T | CA370806646 | CHRNA2 | c.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) | |
8 | g.27461643C>A | CA370806649 | CHRNA2 | c.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) | |
8 | g.27461643C= | CA1772811564 | CHRNA2 | c.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=) | |
8 | g.27461643C>G | CA370806652 | CHRNA2 | c.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 |
8 | g.27461643C>T | CA370806651 | CHRNA2 | c.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) | |
8 | g.27461644T>A | CA460046539 | CHRNA2 | c.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=) | |
8 | g.27461644T>C | CA174237109 | CHRNA2 | c.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 |
8 | g.27461644T>G | CA460046538 | CHRNA2 | c.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=) | |
8 | g.27461644T= | CA1772811568 | CHRNA2 | c.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=) | |
8 | g.27461645A= | CA1772811573 | CHRNA2 | c.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=) | |
8 | g.27461645A>C | CA370806655 | CHRNA2 | c.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) | |
8 | g.27461645A>G | CA4689402 | CHRNA2 | c.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 |
8 | g.27461645A>T | CA370806669 | CHRNA2 | c.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) | |
8 | g.27461646G>A | CA460046540 | CHRNA2 | c.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 |
8 | g.27461646G>C | CA370806674 | CHRNA2 | c.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) | |
8 | g.27461646G= | CA1772811577 | CHRNA2 | c.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=) | |
8 | g.27461646G>T | CA370806676 | CHRNA2 | c.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) | |
8 | g.27461647G>A | CA460046541 | CHRNA2 | c.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 |
8 | g.27461647G>C | CA370806681 | CHRNA2 | c.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) | |
8 | g.27461647G= | CA1772811580 | CHRNA2 | c.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=) | |
8 | g.27461647G>T | CA370806679 | CHRNA2 | c.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) | |
8 | g.27461648A>C | CA370806688 | CHRNA2 | c.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) | |
8 | g.27461648A>G | CA370806692 | CHRNA2 | c.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 |
8 | g.27461648A>T | CA370806690 | CHRNA2 | c.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) | |
8 | g.27461649A>C | CA370806696 | CHRNA2 | c.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) | |
8 | g.27461649A>G | CA370806697 | CHRNA2 | c.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) | |
8 | g.27461649A>T | CA370806699 | CHRNA2 | c.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) | |
8 | g.27461650C>A | CA460046542 | CHRNA2 | c.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=) | |
8 | g.27461650C= | CA1772811587 | CHRNA2 | c.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=) | |
8 | g.27461650C>G | CA460046543 | CHRNA2 | c.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=) | |
8 | g.27461650C>T | CA4689403 | CHRNA2 | c.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 |
8 | g.27461651G>A | CA313476 | CHRNA2 | c.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 |
8 | g.27461651G>C | CA370806701 | CHRNA2 | c.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 |
8 | g.27461651G= | CA1772811594 | CHRNA2 | c.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=) | |
8 | g.27461651G>T | CA4689404 | CHRNA2 | c.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 |
8 | g.27461652G>A | CA370806718 | CHRNA2 | c.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 |
8 | g.27461652G>C | CA370806721 | CHRNA2 | c.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) | |
8 | g.27461652G= | CA1772811600 | CHRNA2 | c.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=) | |
8 | g.27461652G>T | CA370806722 | CHRNA2 | c.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) | |
8 | g.27461653A>C | CA460046545 | CHRNA2 | c.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=) | |
8 | g.27461653A>G | CA460046546 | CHRNA2 | c.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=) | |
8 | g.27461653A>T | CA460046544 | CHRNA2 | c.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=) | |
8 | g.27461654G>A | CA370806725 | CHRNA2 | c.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) | |
8 | g.27461654G>C | CA4689405 | CHRNA2 | c.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 |
8 | g.27461654G= | CA1772811604 | CHRNA2 | c.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=) | |
8 | g.27461654G>T | CA370806738 | CHRNA2 | c.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) | |
8 | g.27461655G>A | CA370806742 | CHRNA2 | c.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 |
8 | g.27461655G>C | CA370806747 | CHRNA2 | c.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) | |
8 | g.27461655G= | CA1772811609 | CHRNA2 | c.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=) | |
8 | g.27461655G>T | CA370806745 | CHRNA2 | c.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 |
8 | g.27461655_27461656delinsAG | CA2499219210 | CHRNA2 | c.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 |
8 | g.27461656C>A | CA460046547 | CHRNA2 | c.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=) | |
8 | g.27461656C= | CA1772811613 | CHRNA2 | c.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=) | |
8 | g.27461656C>G | CA460046548 | CHRNA2 | c.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 |
8 | g.27461656C>T | CA460046549 | CHRNA2 | c.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=) | |
8 | g.27461657A>C | CA370806749 | CHRNA2 | c.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) | |
8 | g.27461657A>G | CA370806751 | CHRNA2 | c.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) | |
8 | g.27461657A>T | CA370806754 | CHRNA2 | c.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) | |
8 | g.27461658G>A | CA460046550 | CHRNA2 | c.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 |
8 | g.27461658G>C | CA370806757 | CHRNA2 | c.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) | |
8 | g.27461658G= | CA1772811614 | CHRNA2 | c.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=) | |
8 | g.27461658G>T | CA370806760 | CHRNA2 | c.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) | |
8 | g.27461659A>C | CA370806763 | CHRNA2 | c.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) | |
8 | g.27461659A>G | CA460046551 | CHRNA2 | c.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=) | |
8 | g.27461659A>T | CA370806765 | CHRNA2 | c.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) | |
8 | g.27461660A>C | CA370806767 | CHRNA2 | c.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) | |
8 | g.27461660A>G | CA370806770 | CHRNA2 | c.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) | |
8 | g.27461660A>T | CA370806773 | CHRNA2 | c.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) | |
8 | g.27461661A= | CA1772811616 | CHRNA2 | c.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=) | |
8 | g.27461661A>C | CA370806783 | CHRNA2 | c.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) | |
8 | g.27461661A>G | CA370806778 | CHRNA2 | c.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 |
8 | g.27461661A>T | CA370806776 | CHRNA2 | c.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) | |
8 | g.27461662G>A | CA460046552 | CHRNA2 | c.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=) | |
8 | g.27461662G>C | CA460046553 | CHRNA2 | c.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=) | |
8 | g.27461662G= | CA1772811618 | CHRNA2 | c.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=) | |
8 | g.27461662G>T | CA4689406 | CHRNA2 | c.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 |
8 | g.27461663A>C | CA370806791 | CHRNA2 | c.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) | |
8 | g.27461663A>G | CA370806793 | CHRNA2 | c.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) | |
8 | g.27461663A>T | CA370806795 | CHRNA2 | c.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) | |
8 | g.27461664G>A | CA370806797 | CHRNA2 | c.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 |
8 | g.27461664G>C | CA370806799 | CHRNA2 | c.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) | |
8 | g.27461664G= | CA1772811621 | CHRNA2 | c.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=) | |
8 | g.27461664G>T | CA370806802 | CHRNA2 | c.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 |
8 | g.27461665G>A | CA460046556 | CHRNA2 | c.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 |
8 | g.27461665G>C | CA460046554 | CHRNA2 | c.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 |
8 | g.27461665G>T | CA460046555 | CHRNA2 | c.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=) | |
8 | g.27461667_27461684del | CA2686677827 | CHRNA2 | c.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 |
8 | g.27461666C>A | CA370806809 | CHRNA2 | c.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) | |
8 | g.27461666C>G | CA370806804 | CHRNA2 | c.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) | |
8 | g.27461666C>T | CA370806806 | CHRNA2 | c.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 |
8 | g.27461667C>A | CA370806813 | CHRNA2 | c.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) | |
8 | g.27461667C= | CA1772811625 | CHRNA2 | c.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=) | |
8 | g.27461667C>G | CA370806820 | CHRNA2 | c.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) | |
8 | g.27461667C>T | CA4689407 | CHRNA2 | c.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 |
8 | g.27461668G>A | CA4689408 | CHRNA2 | c.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 |
8 | g.27461668G>C | CA370806826 | CHRNA2 | c.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 |
8 | g.27461668G= | CA1772811634 | CHRNA2 | c.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=) | |
8 | g.27461668G>T | CA460046557 | CHRNA2 | c.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=) | |
8 | g.27461669A>C | CA370806830 | CHRNA2 | c.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) | |
8 | g.27461669A>G | CA370806837 | CHRNA2 | c.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) | |
8 | g.27461669A>T | CA370806831 | CHRNA2 | c.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) | |
8 | g.27461670T>A | CA370806838 | CHRNA2 | c.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) | |
8 | g.27461670T>C | CA370806839 | CHRNA2 | c.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 |
8 | g.27461670T>G | CA370806842 | CHRNA2 | c.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) | |
8 | g.27461671G>A | CA460046558 | CHRNA2 | c.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 |
8 | g.27461671G>C | CA460046559 | CHRNA2 | c.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=) | |
8 | g.27461671G= | CA1772811637 | CHRNA2 | c.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=) | |
8 | g.27461671G>T | CA460046560 | CHRNA2 | c.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=) | |
8 | g.27461672G>A | CA4689409 | CHRNA2 | c.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 |
8 | g.27461672G>C | CA370806845 | CHRNA2 | c.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) | |
8 | g.27461672G= | CA1772811639 | CHRNA2 | c.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=) | |
8 | g.27461672G>T | CA370806847 | CHRNA2 | c.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) | |
8 | g.27461673del | CA2579127491 | CHRNA2 | c.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) | |
8 | g.27461673T>A | CA370806852 | CHRNA2 | c.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) | |
8 | g.27461673T>C | CA370806855 | CHRNA2 | c.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 |
8 | g.27461673T>G | CA370806856 | CHRNA2 | c.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 |
8 | g.27461673T= | CA1772811642 | CHRNA2 | c.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=) | |
8 | g.27461674C>A | CA460046561 | CHRNA2 | c.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 |
8 | g.27461674C= | CA1772811644 | CHRNA2 | c.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=) | |
8 | g.27461674C>G | CA460046562 | CHRNA2 | c.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=) | |
8 | g.27461674C>T | CA460046563 | CHRNA2 | c.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 |
8 | g.27461675_27461688dup | CA2686677828 | CHRNA2 | c.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 |
8 | g.27461675C>A | CA370806859 | CHRNA2 | c.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) | |
8 | g.27461675C= | CA1772811646 | CHRNA2 | c.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=) | |
8 | g.27461675C>G | CA370806861 | CHRNA2 | c.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 |
8 | g.27461675C>T | CA370806862 | CHRNA2 | c.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 |
8 | g.27461676C>A | CA370806865 | CHRNA2 | c.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 |
8 | g.27461676C>G | CA370806867 | CHRNA2 | c.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) | |
8 | g.27461676C>T | CA370806864 | CHRNA2 | c.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) | |
8 | g.27461677C>A | CA460046564 | CHRNA2 | c.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=) | |
8 | g.27461677C= | CA1772811649 | CHRNA2 | c.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=) | |
8 | g.27461677C>G | CA460046565 | CHRNA2 | c.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=) | |
8 | g.27461677C>T | CA174237159 | CHRNA2 | c.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 |
8 | g.27461678A= | CA1772811653 | CHRNA2 | c.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=) | |
8 | g.27461678A>C | CA370806870 | CHRNA2 | c.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) | |
8 | g.27461678A>G | CA370806872 | CHRNA2 | c.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 |
8 | g.27461678A>T | CA370806871 | CHRNA2 | c.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 |
8 | g.27461679G>A | CA460046566 | CHRNA2 | c.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=) | |
8 | g.27461679G>C | CA370806873 | CHRNA2 | c.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 |
8 | g.27461679G>T | CA370806874 | CHRNA2 | c.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) | |
8 | g.27461680G>A | CA460046567 | CHRNA2 | c.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 |
8 | g.27461680G>C | CA370806875 | CHRNA2 | c.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) | |
8 | g.27461680G>T | CA370806876 | CHRNA2 | c.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) | |
8 | g.27461681A>C | CA370806877 | CHRNA2 | c.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) | |
8 | g.27461681A>G | CA370806878 | CHRNA2 | c.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) | |
8 | g.27461681A>T | CA370806880 | CHRNA2 | c.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) | |
8 | g.27461682A= | CA1772811659 | CHRNA2 | c.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=) | |
8 | g.27461682A>C | CA370806883 | CHRNA2 | c.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) | |
8 | g.27461682A>G | CA370806885 | CHRNA2 | c.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 |
8 | g.27461682A>T | CA370806886 | CHRNA2 | c.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) | |
8 | g.27461683G>A | CA460046568 | CHRNA2 | c.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=) | |
8 | g.27461683G>C | CA370806899 | CHRNA2 | c.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) | |
8 | g.27461683G>T | CA370806903 | CHRNA2 | c.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) | |
8 | g.27461684C>A | CA370806913 | CHRNA2 | c.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 |
8 | g.27461684C= | CA1772811662 | CHRNA2 | c.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=) | |
8 | g.27461684C>G | CA370806911 | CHRNA2 | c.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) | |
8 | g.27461684C>T | CA370806909 | CHRNA2 | c.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 |
8 | g.27461685A= | CA1772811664 | CHRNA2 | c.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=) | |
8 | g.27461685A>C | CA370806918 | CHRNA2 | c.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) | |
8 | g.27461685A>G | CA370806927 | CHRNA2 | c.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 |
8 | g.27461685A>T | CA370806929 | CHRNA2 | c.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) | |
8 | g.27461686G>A | CA460046569 | CHRNA2 | c.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 |
8 | g.27461686G>C | CA460046570 | CHRNA2 | c.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 |
8 | g.27461686G>T | CA460046571 | CHRNA2 | c.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=) | |
8 | g.27461687A>C | CA370806934 | CHRNA2 | c.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) | |
8 | g.27461687A>G | CA370806945 | CHRNA2 | c.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) | |
8 | g.27461687A>T | CA370806948 | CHRNA2 | c.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) | |
8 | g.27461688C>A | CA370806950 | CHRNA2 | c.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) | |
8 | g.27461688C= | CA1772811673 | CHRNA2 | c.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=) | |
8 | g.27461688C>G | CA313474 | CHRNA2 | c.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 |
8 | g.27461688C>T | CA174237170 | CHRNA2 | c.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 |
8 | g.27461689G>A | CA4689410 | CHRNA2 | c.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 |
8 | g.27461689G>C | CA370806959 | CHRNA2 | c.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) | |
8 | g.27461689G= | CA1772811682 | CHRNA2 | c.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=) | |
8 | g.27461689G>T | CA460046572 | CHRNA2 | c.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=) | |
8 | g.27461690A= | CA1772811687 | CHRNA2 | c.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=) | |
8 | g.27461690A>C | CA370806964 | CHRNA2 | c.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) | |
8 | g.27461690A>G | CA370806966 | CHRNA2 | c.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 |
8 | g.27461690A>T | CA370806962 | CHRNA2 | c.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) | |
8 | g.27461691T>A | CA370806971 | CHRNA2 | c.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) | |
8 | g.27461691T>C | CA4689411 | CHRNA2 | c.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 |
8 | g.27461691T>G | CA370806974 | CHRNA2 | c.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) | |
8 | g.27461691T= | CA1772811691 | CHRNA2 | c.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=) | |
8 | g.27461692G>A | CA460046573 | CHRNA2 | c.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=) | |
8 | g.27461692G>C | CA370806977 | CHRNA2 | c.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) | |
8 | g.27461692G>T | CA460046574 | CHRNA2 | c.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=) | |
8 | g.27461693A>C | CA370806985 | CHRNA2 | c.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) | |
8 | g.27461693A>G | CA370806983 | CHRNA2 | c.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) | |
8 | g.27461693A>T | CA370806981 | CHRNA2 | c.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) |