| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463119G>A | CA288706 | CHRNA2 | c.1324C>T (p.Leu442=) c.1279C>T (p.Leu427=) n.290-1365C>T c.1258C>T (p.Leu420=) c.*726C>T (n.*726C>T) c.847C>T (p.Leu283=) c.730C>T (p.Leu244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463119G>C | CA370808891 | CHRNA2 | c.1324C>G (p.Leu442Val) c.1279C>G (p.Leu427Val) n.290-1365C>G c.1258C>G (p.Leu420Val) c.*726C>G (n.*726C>G) c.847C>G (p.Leu283Val) c.730C>G (p.Leu244Val) | |
| 8 | g.27463119G= | CA1630835136 | CHRNA2 | c.1324C= (p.Leu442=) c.1279C= (p.Leu427=) n.290-1365C= c.1258C= (p.Leu420=) c.*726C= (n.*726C=) c.847C= (p.Leu283=) c.730C= (p.Leu244=) | |
| 8 | g.27463119G>T | CA370808890 | CHRNA2 | c.1324C>A (p.Leu442Met) c.1279C>A (p.Leu427Met) n.290-1365C>A c.1258C>A (p.Leu420Met) c.*726C>A (n.*726C>A) c.847C>A (p.Leu283Met) c.730C>A (p.Leu244Met) | |
| 8 | g.27463120G>A | CA460186040 | CHRNA2 | c.1323C>T (p.His441=) c.1278C>T (p.His426=) n.290-1366C>T c.1257C>T (p.His419=) c.*725C>T (n.*725C>T) c.846C>T (p.His282=) c.729C>T (p.His243=) | gnomAD v4 |
| 8 | g.27463120G>C | CA370808892 | CHRNA2 | c.1323C>G (p.His441Gln) c.1278C>G (p.His426Gln) n.290-1366C>G c.1257C>G (p.His419Gln) c.*725C>G (n.*725C>G) c.846C>G (p.His282Gln) c.729C>G (p.His243Gln) | |
| 8 | g.27463120G>T | CA370808893 | CHRNA2 | c.1323C>A (p.His441Gln) c.1278C>A (p.His426Gln) n.290-1366C>A c.1257C>A (p.His419Gln) c.*725C>A (n.*725C>A) c.846C>A (p.His282Gln) c.729C>A (p.His243Gln) | |
| 8 | g.27463121T>A | CA370808894 | CHRNA2 | c.1322A>T (p.His441Leu) c.1277A>T (p.His426Leu) n.290-1367A>T c.1256A>T (p.His419Leu) c.*724A>T (n.*724A>T) c.845A>T (p.His282Leu) c.728A>T (p.His243Leu) | |
| 8 | g.27463121T>C | CA370808896 | CHRNA2 | c.1322A>G (p.His441Arg) c.1277A>G (p.His426Arg) n.290-1367A>G c.1256A>G (p.His419Arg) c.*724A>G (n.*724A>G) c.845A>G (p.His282Arg) c.728A>G (p.His243Arg) | dbSNP |
| 8 | g.27463121T>G | CA370808895 | CHRNA2 | c.1322A>C (p.His441Pro) c.1277A>C (p.His426Pro) n.290-1367A>C c.1256A>C (p.His419Pro) c.*724A>C (n.*724A>C) c.845A>C (p.His282Pro) c.728A>C (p.His243Pro) | |
| 8 | g.27463121T= | CA1772813447 | CHRNA2 | c.1322A= (p.His441=) c.1277A= (p.His426=) n.290-1367A= c.1256A= (p.His419=) c.*724A= (n.*724A=) c.845A= (p.His282=) c.728A= (p.His243=) | |
| 8 | g.27463122G>A | CA370808897 | CHRNA2 | c.1321C>T (p.His441Tyr) c.1276C>T (p.His426Tyr) n.290-1368C>T c.1255C>T (p.His419Tyr) c.*723C>T (n.*723C>T) c.844C>T (p.His282Tyr) c.727C>T (p.His243Tyr) | |
| 8 | g.27463122G>C | CA370808899 | CHRNA2 | c.1321C>G (p.His441Asp) c.1276C>G (p.His426Asp) n.290-1368C>G c.1255C>G (p.His419Asp) c.*723C>G (n.*723C>G) c.844C>G (p.His282Asp) c.727C>G (p.His243Asp) | |
| 8 | g.27463122G>T | CA370808898 | CHRNA2 | c.1321C>A (p.His441Asn) c.1276C>A (p.His426Asn) n.290-1368C>A c.1255C>A (p.His419Asn) c.*723C>A (n.*723C>A) c.844C>A (p.His282Asn) c.727C>A (p.His243Asn) | gnomAD v4 |
| 8 | g.27463123G>A | CA460186041 | CHRNA2 | c.1320C>T (p.Gly440=) c.1275C>T (p.Gly425=) n.290-1369C>T c.1254C>T (p.Gly418=) c.*722C>T (n.*722C>T) c.843C>T (p.Gly281=) c.726C>T (p.Gly242=) | gnomAD v4 |
| 8 | g.27463123G>C | CA460186042 | CHRNA2 | c.1320C>G (p.Gly440=) c.1275C>G (p.Gly425=) n.290-1369C>G c.1254C>G (p.Gly418=) c.*722C>G (n.*722C>G) c.843C>G (p.Gly281=) c.726C>G (p.Gly242=) | |
| 8 | g.27463123G>T | CA460186043 | CHRNA2 | c.1320C>A (p.Gly440=) c.1275C>A (p.Gly425=) n.290-1369C>A c.1254C>A (p.Gly418=) c.*722C>A (n.*722C>A) c.843C>A (p.Gly281=) c.726C>A (p.Gly242=) | |
| 8 | g.27463124C>A | CA370808900 | CHRNA2 | c.1319G>T (p.Gly440Val) c.1274G>T (p.Gly425Val) n.290-1370G>T c.1253G>T (p.Gly418Val) c.*721G>T (n.*721G>T) c.842G>T (p.Gly281Val) c.725G>T (p.Gly242Val) | |
| 8 | g.27463124C= | CA1772813450 | CHRNA2 | c.1319G= (p.Gly440=) c.1274G= (p.Gly425=) n.290-1370G= c.1253G= (p.Gly418=) c.*721G= (n.*721G=) c.842G= (p.Gly281=) c.725G= (p.Gly242=) | |
| 8 | g.27463124C>G | CA370808901 | CHRNA2 | c.1319G>C (p.Gly440Ala) c.1274G>C (p.Gly425Ala) n.290-1370G>C c.1253G>C (p.Gly418Ala) c.*721G>C (n.*721G>C) c.842G>C (p.Gly281Ala) c.725G>C (p.Gly242Ala) | |
| 8 | g.27463124C>T | CA4689480 | CHRNA2 | c.1319G>A (p.Gly440Asp) c.1274G>A (p.Gly425Asp) n.290-1370G>A c.1253G>A (p.Gly418Asp) c.*721G>A (n.*721G>A) c.842G>A (p.Gly281Asp) c.725G>A (p.Gly242Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463125C>A | CA370808902 | CHRNA2 | c.1318G>T (p.Gly440Cys) c.1273G>T (p.Gly425Cys) n.290-1371G>T c.1252G>T (p.Gly418Cys) c.*720G>T (n.*720G>T) c.841G>T (p.Gly281Cys) c.724G>T (p.Gly242Cys) | |
| 8 | g.27463125C= | CA1772813454 | CHRNA2 | c.1318G= (p.Gly440=) c.1273G= (p.Gly425=) n.290-1371G= c.1252G= (p.Gly418=) c.*720G= (n.*720G=) c.841G= (p.Gly281=) c.724G= (p.Gly242=) | |
| 8 | g.27463125C>G | CA370808903 | CHRNA2 | c.1318G>C (p.Gly440Arg) c.1273G>C (p.Gly425Arg) n.290-1371G>C c.1252G>C (p.Gly418Arg) c.*720G>C (n.*720G>C) c.841G>C (p.Gly281Arg) c.724G>C (p.Gly242Arg) | ClinVar |
| 8 | g.27463125C>T | CA370808904 | CHRNA2 | c.1318G>A (p.Gly440Ser) c.1273G>A (p.Gly425Ser) n.290-1371G>A c.1252G>A (p.Gly418Ser) c.*720G>A (n.*720G>A) c.841G>A (p.Gly281Ser) c.724G>A (p.Gly242Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463126G>A | CA4689481 | CHRNA2 | c.1317C>T (p.His439=) c.1272C>T (p.His424=) n.290-1372C>T c.1251C>T (p.His417=) c.*719C>T (n.*719C>T) c.840C>T (p.His280=) c.723C>T (p.His241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463126G>C | CA370808905 | CHRNA2 | c.1317C>G (p.His439Gln) c.1272C>G (p.His424Gln) n.290-1372C>G c.1251C>G (p.His417Gln) c.*719C>G (n.*719C>G) c.840C>G (p.His280Gln) c.723C>G (p.His241Gln) | |
| 8 | g.27463126G= | CA1772813460 | CHRNA2 | c.1317C= (p.His439=) c.1272C= (p.His424=) n.290-1372C= c.1251C= (p.His417=) c.*719C= (n.*719C=) c.840C= (p.His280=) c.723C= (p.His241=) | |
| 8 | g.27463126G>T | CA370808906 | CHRNA2 | c.1317C>A (p.His439Gln) c.1272C>A (p.His424Gln) n.290-1372C>A c.1251C>A (p.His417Gln) c.*719C>A (n.*719C>A) c.840C>A (p.His280Gln) c.723C>A (p.His241Gln) | gnomAD v4 |
| 8 | g.27463127T>A | CA370808907 | CHRNA2 | c.1316A>T (p.His439Leu) c.1271A>T (p.His424Leu) n.290-1373A>T c.1250A>T (p.His417Leu) c.*718A>T (n.*718A>T) c.839A>T (p.His280Leu) c.722A>T (p.His241Leu) | |
| 8 | g.27463127T>C | CA370808908 | CHRNA2 | c.1316A>G (p.His439Arg) c.1271A>G (p.His424Arg) n.290-1373A>G c.1250A>G (p.His417Arg) c.*718A>G (n.*718A>G) c.839A>G (p.His280Arg) c.722A>G (p.His241Arg) | gnomAD v4 |
| 8 | g.27463127T>G | CA370808909 | CHRNA2 | c.1316A>C (p.His439Pro) c.1271A>C (p.His424Pro) n.290-1373A>C c.1250A>C (p.His417Pro) c.*718A>C (n.*718A>C) c.839A>C (p.His280Pro) c.722A>C (p.His241Pro) | |
| 8 | g.27463128G>A | CA370808912 | CHRNA2 | c.1315C>T (p.His439Tyr) c.1270C>T (p.His424Tyr) n.290-1374C>T c.1249C>T (p.His417Tyr) c.*717C>T (n.*717C>T) c.838C>T (p.His280Tyr) c.721C>T (p.His241Tyr) | gnomAD v4 |
| 8 | g.27463128G>C | CA370808911 | CHRNA2 | c.1315C>G (p.His439Asp) c.1270C>G (p.His424Asp) n.290-1374C>G c.1249C>G (p.His417Asp) c.*717C>G (n.*717C>G) c.838C>G (p.His280Asp) c.721C>G (p.His241Asp) | |
| 8 | g.27463128G>T | CA370808910 | CHRNA2 | c.1315C>A (p.His439Asn) c.1270C>A (p.His424Asn) n.290-1374C>A c.1249C>A (p.His417Asn) c.*717C>A (n.*717C>A) c.838C>A (p.His280Asn) c.721C>A (p.His241Asn) | |
| 8 | g.27463129G>A | CA460186048 | CHRNA2 | c.1314C>T (p.Ser438=) c.1269C>T (p.Ser423=) n.290-1375C>T c.1248C>T (p.Ser416=) c.*716C>T (n.*716C>T) c.837C>T (p.Ser279=) c.720C>T (p.Ser240=) | gnomAD v4 |
| 8 | g.27463129G>C | CA370808913 | CHRNA2 | c.1314C>G (p.Ser438Arg) c.1269C>G (p.Ser423Arg) n.290-1375C>G c.1248C>G (p.Ser416Arg) c.*716C>G (n.*716C>G) c.837C>G (p.Ser279Arg) c.720C>G (p.Ser240Arg) | |
| 8 | g.27463129G>T | CA370808914 | CHRNA2 | c.1314C>A (p.Ser438Arg) c.1269C>A (p.Ser423Arg) n.290-1375C>A c.1248C>A (p.Ser416Arg) c.*716C>A (n.*716C>A) c.837C>A (p.Ser279Arg) c.720C>A (p.Ser240Arg) | |
| 8 | g.27463130C>A | CA370808915 | CHRNA2 | c.1313G>T (p.Ser438Ile) c.1268G>T (p.Ser423Ile) n.290-1376G>T c.1247G>T (p.Ser416Ile) c.*715G>T (n.*715G>T) c.836G>T (p.Ser279Ile) c.719G>T (p.Ser240Ile) | |
| 8 | g.27463130C>G | CA370808916 | CHRNA2 | c.1313G>C (p.Ser438Thr) c.1268G>C (p.Ser423Thr) n.290-1376G>C c.1247G>C (p.Ser416Thr) c.*715G>C (n.*715G>C) c.836G>C (p.Ser279Thr) c.719G>C (p.Ser240Thr) | |
| 8 | g.27463130C>T | CA370808917 | CHRNA2 | c.1313G>A (p.Ser438Asn) c.1268G>A (p.Ser423Asn) n.290-1376G>A c.1247G>A (p.Ser416Asn) c.*715G>A (n.*715G>A) c.836G>A (p.Ser279Asn) c.719G>A (p.Ser240Asn) | |
| 8 | g.27463131T>A | CA370808918 | CHRNA2 | c.1312A>T (p.Ser438Cys) c.1267A>T (p.Ser423Cys) n.290-1377A>T c.1246A>T (p.Ser416Cys) c.*714A>T (n.*714A>T) c.835A>T (p.Ser279Cys) c.718A>T (p.Ser240Cys) | |
| 8 | g.27463131T>C | CA370808919 | CHRNA2 | c.1312A>G (p.Ser438Gly) c.1267A>G (p.Ser423Gly) n.290-1377A>G c.1246A>G (p.Ser416Gly) c.*714A>G (n.*714A>G) c.835A>G (p.Ser279Gly) c.718A>G (p.Ser240Gly) | |
| 8 | g.27463131T>G | CA370808920 | CHRNA2 | c.1312A>C (p.Ser438Arg) c.1267A>C (p.Ser423Arg) n.290-1377A>C c.1246A>C (p.Ser416Arg) c.*714A>C (n.*714A>C) c.835A>C (p.Ser279Arg) c.718A>C (p.Ser240Arg) | |
| 8 | g.27463132del | CA2686678218 | CHRNA2 | c.1311del (p.Cys437Ter) c.1266del (p.Cys422Ter) n.290-1378del c.1245del (p.Cys415Ter) c.*713del (n.*713del) c.834del (p.Cys278Ter) c.717del (p.Cys239Ter) | gnomAD v4 |
| 8 | g.27463132G>A | CA460186052 | CHRNA2 | c.1311C>T (p.Cys437=) c.1266C>T (p.Cys422=) n.290-1378C>T c.1245C>T (p.Cys415=) c.*713C>T (n.*713C>T) c.834C>T (p.Cys278=) c.717C>T (p.Cys239=) | gnomAD v4 |
| 8 | g.27463132G>C | CA370808921 | CHRNA2 | c.1311C>G (p.Cys437Trp) c.1266C>G (p.Cys422Trp) n.290-1378C>G c.1245C>G (p.Cys415Trp) c.*713C>G (n.*713C>G) c.834C>G (p.Cys278Trp) c.717C>G (p.Cys239Trp) | |
| 8 | g.27463132G>T | CA370808922 | CHRNA2 | c.1311C>A (p.Cys437Ter) c.1266C>A (p.Cys422Ter) n.290-1378C>A c.1245C>A (p.Cys415Ter) c.*713C>A (n.*713C>A) c.834C>A (p.Cys278Ter) c.717C>A (p.Cys239Ter) | |
| 8 | g.27463132_27463144dup | CA2499219211 | CHRNA2 | c.1299_1311dup (p.Ser438GlyfsTer19) c.1254_1266dup (p.Ser423GlyfsTer19) n.290-1390_290-1378dup c.1233_1245dup (p.Ser416GlyfsTer19) c.*701_*713dup (n.*701_*713dup) c.822_834dup (p.Ser279GlyfsTer19) c.705_717dup (p.Ser240GlyfsTer19) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463133C>A | CA370808923 | CHRNA2 | c.1310G>T (p.Cys437Phe) c.1265G>T (p.Cys422Phe) n.290-1379G>T c.1244G>T (p.Cys415Phe) c.*712G>T (n.*712G>T) c.833G>T (p.Cys278Phe) c.716G>T (p.Cys239Phe) |