UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463031T>A | CA370807892 | CHRNA2 | c.1412A>T (p.Glu471Val) c.1367A>T (p.Glu456Val) n.290-1277A>T c.1346A>T (p.Glu449Val) c.*814A>T (n.*814A>T) c.935A>T (p.Glu312Val) c.818A>T (p.Glu273Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463031T>C | CA174238409 | CHRNA2 | c.1412A>G (p.Glu471Gly) c.1367A>G (p.Glu456Gly) n.290-1277A>G c.1346A>G (p.Glu449Gly) c.*814A>G (n.*814A>G) c.935A>G (p.Glu312Gly) c.818A>G (p.Glu273Gly) | ClinVar dbSNP gnomAD v2 |
| 8 | g.27463031T>G | CA370807897 | CHRNA2 | c.1412A>C (p.Glu471Ala) c.1367A>C (p.Glu456Ala) n.290-1277A>C c.1346A>C (p.Glu449Ala) c.*814A>C (n.*814A>C) c.935A>C (p.Glu312Ala) c.818A>C (p.Glu273Ala) | |
| 8 | g.27463031T= | CA1772813283 | CHRNA2 | c.1412A= (p.Glu471=) c.1367A= (p.Glu456=) n.290-1277A= c.1346A= (p.Glu449=) c.*814A= (n.*814A=) c.935A= (p.Glu312=) c.818A= (p.Glu273=) | |
| 8 | g.27463032C>A | CA370807899 | CHRNA2 | c.1411G>T (p.Glu471Ter) c.1366G>T (p.Glu456Ter) n.290-1278G>T c.1345G>T (p.Glu449Ter) c.*813G>T (n.*813G>T) c.934G>T (p.Glu312Ter) c.817G>T (p.Glu273Ter) | |
| 8 | g.27463032C>G | CA370807900 | CHRNA2 | c.1411G>C (p.Glu471Gln) c.1366G>C (p.Glu456Gln) n.290-1278G>C c.1345G>C (p.Glu449Gln) c.*813G>C (n.*813G>C) c.934G>C (p.Glu312Gln) c.817G>C (p.Glu273Gln) | |
| 8 | g.27463032C>T | CA370807902 | CHRNA2 | c.1411G>A (p.Glu471Lys) c.1366G>A (p.Glu456Lys) n.290-1278G>A c.1345G>A (p.Glu449Lys) c.*813G>A (n.*813G>A) c.934G>A (p.Glu312Lys) c.817G>A (p.Glu273Lys) | |
| 8 | g.27463032_27463033insG | CA645550780 | CHRNA2 | c.1410_1411insC (p.Glu471ArgfsTer13) c.1365_1366insC (p.Glu456ArgfsTer13) n.290-1279_290-1278insC c.1344_1345insC (p.Glu449ArgfsTer13) c.*812_*813insC (n.*812_*813insC) c.933_934insC (p.Glu312ArgfsTer13) c.816_817insC (p.Glu273ArgfsTer13) | COSMIC |
| 8 | g.27463033C>A | CA460046641 | CHRNA2 | c.1410G>T (p.Leu470=) c.1365G>T (p.Leu455=) n.290-1279G>T c.1344G>T (p.Leu448=) c.*812G>T (n.*812G>T) c.933G>T (p.Leu311=) c.816G>T (p.Leu272=) | |
| 8 | g.27463033C= | CA1772813287 | CHRNA2 | c.1410G= (p.Leu470=) c.1365G= (p.Leu455=) n.290-1279G= c.1344G= (p.Leu448=) c.*812G= (n.*812G=) c.933G= (p.Leu311=) c.816G= (p.Leu272=) | |
| 8 | g.27463033C>G | CA460046642 | CHRNA2 | c.1410G>C (p.Leu470=) c.1365G>C (p.Leu455=) n.290-1279G>C c.1344G>C (p.Leu448=) c.*812G>C (n.*812G>C) c.933G>C (p.Leu311=) c.816G>C (p.Leu272=) | |
| 8 | g.27463033C>T | CA460046643 | CHRNA2 | c.1410G>A (p.Leu470=) c.1365G>A (p.Leu455=) n.290-1279G>A c.1344G>A (p.Leu448=) c.*812G>A (n.*812G>A) c.933G>A (p.Leu311=) c.816G>A (p.Leu272=) | ClinVar dbSNP |
| 8 | g.27463034A>C | CA370807903 | CHRNA2 | c.1409T>G (p.Leu470Arg) c.1364T>G (p.Leu455Arg) n.290-1280T>G c.1343T>G (p.Leu448Arg) c.*811T>G (n.*811T>G) c.932T>G (p.Leu311Arg) c.815T>G (p.Leu272Arg) | |
| 8 | g.27463034A>G | CA370807904 | CHRNA2 | c.1409T>C (p.Leu470Pro) c.1364T>C (p.Leu455Pro) n.290-1280T>C c.1343T>C (p.Leu448Pro) c.*811T>C (n.*811T>C) c.932T>C (p.Leu311Pro) c.815T>C (p.Leu272Pro) | |
| 8 | g.27463034A>T | CA370807906 | CHRNA2 | c.1409T>A (p.Leu470Gln) c.1364T>A (p.Leu455Gln) n.290-1280T>A c.1343T>A (p.Leu448Gln) c.*811T>A (n.*811T>A) c.932T>A (p.Leu311Gln) c.815T>A (p.Leu272Gln) | |
| 8 | g.27463035G>A | CA460046644 | CHRNA2 | c.1408C>T (p.Leu470=) c.1363C>T (p.Leu455=) n.290-1281C>T c.1342C>T (p.Leu448=) c.*810C>T (n.*810C>T) c.931C>T (p.Leu311=) c.814C>T (p.Leu272=) | dbSNP gnomAD v4 |
| 8 | g.27463035G>C | CA370807907 | CHRNA2 | c.1408C>G (p.Leu470Val) c.1363C>G (p.Leu455Val) n.290-1281C>G c.1342C>G (p.Leu448Val) c.*810C>G (n.*810C>G) c.931C>G (p.Leu311Val) c.814C>G (p.Leu272Val) | |
| 8 | g.27463035G= | CA1772813292 | CHRNA2 | c.1408C= (p.Leu470=) c.1363C= (p.Leu455=) n.290-1281C= c.1342C= (p.Leu448=) c.*810C= (n.*810C=) c.931C= (p.Leu311=) c.814C= (p.Leu272=) | |
| 8 | g.27463035G>T | CA370807910 | CHRNA2 | c.1408C>A (p.Leu470Met) c.1363C>A (p.Leu455Met) n.290-1281C>A c.1342C>A (p.Leu448Met) c.*810C>A (n.*810C>A) c.931C>A (p.Leu311Met) c.814C>A (p.Leu272Met) | |
| 8 | g.27463036T>A | CA460046647 | CHRNA2 | c.1407A>T (p.Ala469=) c.1362A>T (p.Ala454=) n.290-1282A>T c.1341A>T (p.Ala447=) c.*809A>T (n.*809A>T) c.930A>T (p.Ala310=) c.813A>T (p.Ala271=) | gnomAD v4 |
| 8 | g.27463036T>C | CA460046646 | CHRNA2 | c.1407A>G (p.Ala469=) c.1362A>G (p.Ala454=) n.290-1282A>G c.1341A>G (p.Ala447=) c.*809A>G (n.*809A>G) c.930A>G (p.Ala310=) c.813A>G (p.Ala271=) | |
| 8 | g.27463036T>G | CA460046645 | CHRNA2 | c.1407A>C (p.Ala469=) c.1362A>C (p.Ala454=) n.290-1282A>C c.1341A>C (p.Ala447=) c.*809A>C (n.*809A>C) c.930A>C (p.Ala310=) c.813A>C (p.Ala271=) | dbSNP |
| 8 | g.27463036T= | CA1772813294 | CHRNA2 | c.1407A= (p.Ala469=) c.1362A= (p.Ala454=) n.290-1282A= c.1341A= (p.Ala447=) c.*809A= (n.*809A=) c.930A= (p.Ala310=) c.813A= (p.Ala271=) | |
| 8 | g.27463037G>A | CA370807911 | CHRNA2 | c.1406C>T (p.Ala469Val) c.1361C>T (p.Ala454Val) n.290-1283C>T c.1340C>T (p.Ala447Val) c.*808C>T (n.*808C>T) c.929C>T (p.Ala310Val) c.812C>T (p.Ala271Val) | |
| 8 | g.27463037G>C | CA370807917 | CHRNA2 | c.1406C>G (p.Ala469Gly) c.1361C>G (p.Ala454Gly) n.290-1283C>G c.1340C>G (p.Ala447Gly) c.*808C>G (n.*808C>G) c.929C>G (p.Ala310Gly) c.812C>G (p.Ala271Gly) | |
| 8 | g.27463037G>T | CA370807914 | CHRNA2 | c.1406C>A (p.Ala469Glu) c.1361C>A (p.Ala454Glu) n.290-1283C>A c.1340C>A (p.Ala447Glu) c.*808C>A (n.*808C>A) c.929C>A (p.Ala310Glu) c.812C>A (p.Ala271Glu) | |
| 8 | g.27463038C>A | CA370807920 | CHRNA2 | c.1405G>T (p.Ala469Ser) c.1360G>T (p.Ala454Ser) n.290-1284G>T c.1339G>T (p.Ala447Ser) c.*807G>T (n.*807G>T) c.928G>T (p.Ala310Ser) c.811G>T (p.Ala271Ser) | gnomAD v4 |
| 8 | g.27463038C>G | CA370807925 | CHRNA2 | c.1405G>C (p.Ala469Pro) c.1360G>C (p.Ala454Pro) n.290-1284G>C c.1339G>C (p.Ala447Pro) c.*807G>C (n.*807G>C) c.928G>C (p.Ala310Pro) c.811G>C (p.Ala271Pro) | |
| 8 | g.27463038C>T | CA370807922 | CHRNA2 | c.1405G>A (p.Ala469Thr) c.1360G>A (p.Ala454Thr) n.290-1284G>A c.1339G>A (p.Ala447Thr) c.*807G>A (n.*807G>A) c.928G>A (p.Ala310Thr) c.811G>A (p.Ala271Thr) | gnomAD v4 |
| 8 | g.27463039C>A | CA370807927 | CHRNA2 | c.1404G>T (p.Lys468Asn) c.1359G>T (p.Lys453Asn) n.290-1285G>T c.1338G>T (p.Lys446Asn) c.*806G>T (n.*806G>T) c.927G>T (p.Lys309Asn) c.810G>T (p.Lys270Asn) | |
| 8 | g.27463039C>G | CA370807928 | CHRNA2 | c.1404G>C (p.Lys468Asn) c.1359G>C (p.Lys453Asn) n.290-1285G>C c.1338G>C (p.Lys446Asn) c.*806G>C (n.*806G>C) c.927G>C (p.Lys309Asn) c.810G>C (p.Lys270Asn) | |
| 8 | g.27463039C>T | CA460046648 | CHRNA2 | c.1404G>A (p.Lys468=) c.1359G>A (p.Lys453=) n.290-1285G>A c.1338G>A (p.Lys446=) c.*806G>A (n.*806G>A) c.927G>A (p.Lys309=) c.810G>A (p.Lys270=) | |
| 8 | g.27463040T>A | CA370807930 | CHRNA2 | c.1403A>T (p.Lys468Met) c.1358A>T (p.Lys453Met) n.290-1286A>T c.1337A>T (p.Lys446Met) c.*805A>T (n.*805A>T) c.926A>T (p.Lys309Met) c.809A>T (p.Lys270Met) | |
| 8 | g.27463040T>C | CA370807932 | CHRNA2 | c.1403A>G (p.Lys468Arg) c.1358A>G (p.Lys453Arg) n.290-1286A>G c.1337A>G (p.Lys446Arg) c.*805A>G (n.*805A>G) c.926A>G (p.Lys309Arg) c.809A>G (p.Lys270Arg) | |
| 8 | g.27463040T>G | CA370807934 | CHRNA2 | c.1403A>C (p.Lys468Thr) c.1358A>C (p.Lys453Thr) n.290-1286A>C c.1337A>C (p.Lys446Thr) c.*805A>C (n.*805A>C) c.926A>C (p.Lys309Thr) c.809A>C (p.Lys270Thr) | |
| 8 | g.27463041T>A | CA370807936 | CHRNA2 | c.1402A>T (p.Lys468Ter) c.1357A>T (p.Lys453Ter) n.290-1287A>T c.1336A>T (p.Lys446Ter) c.*804A>T (n.*804A>T) c.925A>T (p.Lys309Ter) c.808A>T (p.Lys270Ter) | dbSNP |
| 8 | g.27463041T>C | CA370807939 | CHRNA2 | c.1402A>G (p.Lys468Glu) c.1357A>G (p.Lys453Glu) n.290-1287A>G c.1336A>G (p.Lys446Glu) c.*804A>G (n.*804A>G) c.925A>G (p.Lys309Glu) c.808A>G (p.Lys270Glu) | gnomAD v4 |
| 8 | g.27463041T>G | CA370807941 | CHRNA2 | c.1402A>C (p.Lys468Gln) c.1357A>C (p.Lys453Gln) n.290-1287A>C c.1336A>C (p.Lys446Gln) c.*804A>C (n.*804A>C) c.925A>C (p.Lys309Gln) c.808A>C (p.Lys270Gln) | |
| 8 | g.27463041T= | CA1772813297 | CHRNA2 | c.1402A= (p.Lys468=) c.1357A= (p.Lys453=) n.290-1287A= c.1336A= (p.Lys446=) c.*804A= (n.*804A=) c.925A= (p.Lys309=) c.808A= (p.Lys270=) | |
| 8 | g.27463042C>A | CA370807943 | CHRNA2 | c.1401G>T (p.Gln467His) c.1356G>T (p.Gln452His) n.290-1288G>T c.1335G>T (p.Gln445His) c.*803G>T (n.*803G>T) c.924G>T (p.Gln308His) c.807G>T (p.Gln269His) | gnomAD v4 |
| 8 | g.27463042C= | CA1772813300 | CHRNA2 | c.1401G= (p.Gln467=) c.1356G= (p.Gln452=) n.290-1288G= c.1335G= (p.Gln445=) c.*803G= (n.*803G=) c.924G= (p.Gln308=) c.807G= (p.Gln269=) | |
| 8 | g.27463042C>G | CA370807945 | CHRNA2 | c.1401G>C (p.Gln467His) c.1356G>C (p.Gln452His) n.290-1288G>C c.1335G>C (p.Gln445His) c.*803G>C (n.*803G>C) c.924G>C (p.Gln308His) c.807G>C (p.Gln269His) | |
| 8 | g.27463042C>T | CA4689466 | CHRNA2 | c.1401G>A (p.Gln467=) c.1356G>A (p.Gln452=) n.290-1288G>A c.1335G>A (p.Gln445=) c.*803G>A (n.*803G>A) c.924G>A (p.Gln308=) c.807G>A (p.Gln269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463043T>A | CA370807950 | CHRNA2 | c.1400A>T (p.Gln467Leu) c.1355A>T (p.Gln452Leu) n.290-1289A>T c.1334A>T (p.Gln445Leu) c.*802A>T (n.*802A>T) c.923A>T (p.Gln308Leu) c.806A>T (p.Gln269Leu) | |
| 8 | g.27463043T>C | CA370807948 | CHRNA2 | c.1400A>G (p.Gln467Arg) c.1355A>G (p.Gln452Arg) n.290-1289A>G c.1334A>G (p.Gln445Arg) c.*802A>G (n.*802A>G) c.923A>G (p.Gln308Arg) c.806A>G (p.Gln269Arg) | |
| 8 | g.27463043T>G | CA370807946 | CHRNA2 | c.1400A>C (p.Gln467Pro) c.1355A>C (p.Gln452Pro) n.290-1289A>C c.1334A>C (p.Gln445Pro) c.*802A>C (n.*802A>C) c.923A>C (p.Gln308Pro) c.806A>C (p.Gln269Pro) | |
| 8 | g.27463044G>A | CA370807952 | CHRNA2 | c.1399C>T (p.Gln467Ter) c.1354C>T (p.Gln452Ter) n.290-1290C>T c.1333C>T (p.Gln445Ter) c.*801C>T (n.*801C>T) c.922C>T (p.Gln308Ter) c.805C>T (p.Gln269Ter) | |
| 8 | g.27463044G>C | CA370807954 | CHRNA2 | c.1399C>G (p.Gln467Glu) c.1354C>G (p.Gln452Glu) n.290-1290C>G c.1333C>G (p.Gln445Glu) c.*801C>G (n.*801C>G) c.922C>G (p.Gln308Glu) c.805C>G (p.Gln269Glu) | |
| 8 | g.27463044G>T | CA370807957 | CHRNA2 | c.1399C>A (p.Gln467Lys) c.1354C>A (p.Gln452Lys) n.290-1290C>A c.1333C>A (p.Gln445Lys) c.*801C>A (n.*801C>A) c.922C>A (p.Gln308Lys) c.805C>A (p.Gln269Lys) | |
| 8 | g.27463045C>A | CA370807960 | CHRNA2 | c.1398G>T (p.Met466Ile) c.1353G>T (p.Met451Ile) n.290-1291G>T c.1332G>T (p.Met444Ile) c.*800G>T (n.*800G>T) c.921G>T (p.Met307Ile) c.804G>T (p.Met268Ile) | |
| 8 | g.27463045C>G | CA370807962 | CHRNA2 | c.1398G>C (p.Met466Ile) c.1353G>C (p.Met451Ile) n.290-1291G>C c.1332G>C (p.Met444Ile) c.*800G>C (n.*800G>C) c.921G>C (p.Met307Ile) c.804G>C (p.Met268Ile) | |
| 8 | g.27463045C>T | CA370807964 | CHRNA2 | c.1398G>A (p.Met466Ile) c.1353G>A (p.Met451Ile) n.290-1291G>A c.1332G>A (p.Met444Ile) c.*800G>A (n.*800G>A) c.921G>A (p.Met307Ile) c.804G>A (p.Met268Ile) | gnomAD v4 |
| 8 | g.27463046A= | CA1772813303 | CHRNA2 | c.1397T= (p.Met466=) c.1352T= (p.Met451=) n.290-1292T= c.1331T= (p.Met444=) c.*799T= (n.*799T=) c.920T= (p.Met307=) c.803T= (p.Met268=) | |
| 8 | g.27463046A>C | CA370807966 | CHRNA2 | c.1397T>G (p.Met466Arg) c.1352T>G (p.Met451Arg) n.290-1292T>G c.1331T>G (p.Met444Arg) c.*799T>G (n.*799T>G) c.920T>G (p.Met307Arg) c.803T>G (p.Met268Arg) | gnomAD v4 |
| 8 | g.27463046A>G | CA370807969 | CHRNA2 | c.1397T>C (p.Met466Thr) c.1352T>C (p.Met451Thr) n.290-1292T>C c.1331T>C (p.Met444Thr) c.*799T>C (n.*799T>C) c.920T>C (p.Met307Thr) c.803T>C (p.Met268Thr) | ClinVar dbSNP |
| 8 | g.27463046A>T | CA370807970 | CHRNA2 | c.1397T>A (p.Met466Lys) c.1352T>A (p.Met451Lys) n.290-1292T>A c.1331T>A (p.Met444Lys) c.*799T>A (n.*799T>A) c.920T>A (p.Met307Lys) c.803T>A (p.Met268Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463046_27463047del | CA2686678215 | CHRNA2 | c.1396_1397del (p.Met466AlafsTer17) c.1351_1352del (p.Met451AlafsTer17) n.290-1293_290-1292del c.1330_1331del (p.Met444AlafsTer17) c.*798_*799del (n.*798_*799del) c.919_920del (p.Met307AlafsTer17) c.802_803del (p.Met268AlafsTer17) | gnomAD v4 |
| 8 | g.27463047T>A | CA370807972 | CHRNA2 | c.1396A>T (p.Met466Leu) c.1351A>T (p.Met451Leu) n.290-1293A>T c.1330A>T (p.Met444Leu) c.*798A>T (n.*798A>T) c.919A>T (p.Met307Leu) c.802A>T (p.Met268Leu) | |
| 8 | g.27463047T>C | CA370807974 | CHRNA2 | c.1396A>G (p.Met466Val) c.1351A>G (p.Met451Val) n.290-1293A>G c.1330A>G (p.Met444Val) c.*798A>G (n.*798A>G) c.919A>G (p.Met307Val) c.802A>G (p.Met268Val) | |
| 8 | g.27463047T>G | CA370807975 | CHRNA2 | c.1396A>C (p.Met466Leu) c.1351A>C (p.Met451Leu) n.290-1293A>C c.1330A>C (p.Met444Leu) c.*798A>C (n.*798A>C) c.919A>C (p.Met307Leu) c.802A>C (p.Met268Leu) | |
| 8 | g.27463048G>A | CA460046649 | CHRNA2 | c.1395C>T (p.His465=) c.1350C>T (p.His450=) n.290-1294C>T c.1329C>T (p.His443=) c.*797C>T (n.*797C>T) c.918C>T (p.His306=) c.801C>T (p.His267=) | |
| 8 | g.27463048G>C | CA370807979 | CHRNA2 | c.1395C>G (p.His465Gln) c.1350C>G (p.His450Gln) n.290-1294C>G c.1329C>G (p.His443Gln) c.*797C>G (n.*797C>G) c.918C>G (p.His306Gln) c.801C>G (p.His267Gln) | |
| 8 | g.27463048G>T | CA370807976 | CHRNA2 | c.1395C>A (p.His465Gln) c.1350C>A (p.His450Gln) n.290-1294C>A c.1329C>A (p.His443Gln) c.*797C>A (n.*797C>A) c.918C>A (p.His306Gln) c.801C>A (p.His267Gln) | |
| 8 | g.27463049T>A | CA370807980 | CHRNA2 | c.1394A>T (p.His465Leu) c.1349A>T (p.His450Leu) n.290-1295A>T c.1328A>T (p.His443Leu) c.*796A>T (n.*796A>T) c.917A>T (p.His306Leu) c.800A>T (p.His267Leu) | |
| 8 | g.27463049T>C | CA370807981 | CHRNA2 | c.1394A>G (p.His465Arg) c.1349A>G (p.His450Arg) n.290-1295A>G c.1328A>G (p.His443Arg) c.*796A>G (n.*796A>G) c.917A>G (p.His306Arg) c.800A>G (p.His267Arg) | |
| 8 | g.27463049T>G | CA370807983 | CHRNA2 | c.1394A>C (p.His465Pro) c.1349A>C (p.His450Pro) n.290-1295A>C c.1328A>C (p.His443Pro) c.*796A>C (n.*796A>C) c.917A>C (p.His306Pro) c.800A>C (p.His267Pro) | |
| 8 | g.27463049_27463050delinsTG | CA1772813308 | CHRNA2 | c.1393_1394delinsCA (p.His465=) c.1348_1349delinsCA (p.His450=) n.290-1296_290-1295delinsCA c.1327_1328delinsCA (p.His443=) c.*795_*796delinsCA (n.*795_*796delinsCA) c.916_917delinsCA (p.His306=) c.799_800delinsCA (p.His267=) | |
| 8 | g.27463050G>A | CA370807986 | CHRNA2 | c.1393C>T (p.His465Tyr) c.1348C>T (p.His450Tyr) n.290-1296C>T c.1327C>T (p.His443Tyr) c.*795C>T (n.*795C>T) c.916C>T (p.His306Tyr) c.799C>T (p.His267Tyr) | gnomAD v4 |
| 8 | g.27463050G>C | CA4689467 | CHRNA2 | c.1393C>G (p.His465Asp) c.1348C>G (p.His450Asp) n.290-1296C>G c.1327C>G (p.His443Asp) c.*795C>G (n.*795C>G) c.916C>G (p.His306Asp) c.799C>G (p.His267Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463050G= | CA1772813312 | CHRNA2 | c.1393C= (p.His465=) c.1348C= (p.His450=) n.290-1296C= c.1327C= (p.His443=) c.*795C= (n.*795C=) c.916C= (p.His306=) c.799C= (p.His267=) | |
| 8 | g.27463050G>T | CA370807988 | CHRNA2 | c.1393C>A (p.His465Asn) c.1348C>A (p.His450Asn) n.290-1296C>A c.1327C>A (p.His443Asn) c.*795C>A (n.*795C>A) c.916C>A (p.His306Asn) c.799C>A (p.His267Asn) | |
| 8 | g.27463053del | CA580667920 | CHRNA2 | c.1393del (p.His465ThrfsTer25) c.1348del (p.His450ThrfsTer25) n.290-1296del c.1327del (p.His443ThrfsTer25) c.*795del (n.*795del) c.916del (p.His306ThrfsTer25) c.799del (p.His267ThrfsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463051G>A | CA460046650 | CHRNA2 | c.1392C>T (p.Pro464=) c.1347C>T (p.Pro449=) n.290-1297C>T c.1326C>T (p.Pro442=) c.*794C>T (n.*794C>T) c.915C>T (p.Pro305=) c.798C>T (p.Pro266=) | |
| 8 | g.27463051G>C | CA460046651 | CHRNA2 | c.1392C>G (p.Pro464=) c.1347C>G (p.Pro449=) n.290-1297C>G c.1326C>G (p.Pro442=) c.*794C>G (n.*794C>G) c.915C>G (p.Pro305=) c.798C>G (p.Pro266=) | |
| 8 | g.27463051G>T | CA460046652 | CHRNA2 | c.1392C>A (p.Pro464=) c.1347C>A (p.Pro449=) n.290-1297C>A c.1326C>A (p.Pro442=) c.*794C>A (n.*794C>A) c.915C>A (p.Pro305=) c.798C>A (p.Pro266=) | |
| 8 | g.27463052_27463055dup | CA2686678216 | CHRNA2 | c.1389_1392dup (p.His465ThrfsTer20) c.1344_1347dup (p.His450ThrfsTer20) n.290-1300_290-1297dup c.1323_1326dup (p.His443ThrfsTer20) c.*791_*794dup (n.*791_*794dup) c.912_915dup (p.His306ThrfsTer20) c.795_798dup (p.His267ThrfsTer20) | gnomAD v4 |
| 8 | g.27463052G>A | CA370807994 | CHRNA2 | c.1391C>T (p.Pro464Leu) c.1346C>T (p.Pro449Leu) n.290-1298C>T c.1325C>T (p.Pro442Leu) c.*793C>T (n.*793C>T) c.914C>T (p.Pro305Leu) c.797C>T (p.Pro266Leu) | |
| 8 | g.27463052G>C | CA370807992 | CHRNA2 | c.1391C>G (p.Pro464Arg) c.1346C>G (p.Pro449Arg) n.290-1298C>G c.1325C>G (p.Pro442Arg) c.*793C>G (n.*793C>G) c.914C>G (p.Pro305Arg) c.797C>G (p.Pro266Arg) | |
| 8 | g.27463052G>T | CA370807991 | CHRNA2 | c.1391C>A (p.Pro464His) c.1346C>A (p.Pro449His) n.290-1298C>A c.1325C>A (p.Pro442His) c.*793C>A (n.*793C>A) c.914C>A (p.Pro305His) c.797C>A (p.Pro266His) | dbSNP gnomAD v4 |
| 8 | g.27463053G>A | CA370807996 | CHRNA2 | c.1390C>T (p.Pro464Ser) c.1345C>T (p.Pro449Ser) n.290-1299C>T c.1324C>T (p.Pro442Ser) c.*792C>T (n.*792C>T) c.913C>T (p.Pro305Ser) c.796C>T (p.Pro266Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463053G>C | CA370807998 | CHRNA2 | c.1390C>G (p.Pro464Ala) c.1345C>G (p.Pro449Ala) n.290-1299C>G c.1324C>G (p.Pro442Ala) c.*792C>G (n.*792C>G) c.913C>G (p.Pro305Ala) c.796C>G (p.Pro266Ala) | |
| 8 | g.27463053G= | CA1772813319 | CHRNA2 | c.1390C= (p.Pro464=) c.1345C= (p.Pro449=) n.290-1299C= c.1324C= (p.Pro442=) c.*792C= (n.*792C=) c.913C= (p.Pro305=) c.796C= (p.Pro266=) | |
| 8 | g.27463053G>T | CA370807999 | CHRNA2 | c.1390C>A (p.Pro464Thr) c.1345C>A (p.Pro449Thr) n.290-1299C>A c.1324C>A (p.Pro442Thr) c.*792C>A (n.*792C>A) c.913C>A (p.Pro305Thr) c.796C>A (p.Pro266Thr) | |
| 8 | g.27463054T>A | CA460046653 | CHRNA2 | c.1389A>T (p.Ser463=) c.1344A>T (p.Ser448=) n.290-1300A>T c.1323A>T (p.Ser441=) c.*791A>T (n.*791A>T) c.912A>T (p.Ser304=) c.795A>T (p.Ser265=) | |
| 8 | g.27463054T>C | CA460046654 | CHRNA2 | c.1389A>G (p.Ser463=) c.1344A>G (p.Ser448=) n.290-1300A>G c.1323A>G (p.Ser441=) c.*791A>G (n.*791A>G) c.912A>G (p.Ser304=) c.795A>G (p.Ser265=) | |
| 8 | g.27463054T>G | CA460046655 | CHRNA2 | c.1389A>C (p.Ser463=) c.1344A>C (p.Ser448=) n.290-1300A>C c.1323A>C (p.Ser441=) c.*791A>C (n.*791A>C) c.912A>C (p.Ser304=) c.795A>C (p.Ser265=) | |
| 8 | g.27463055del | CA2716963811 | CHRNA2 | c.1388del (p.Ser463TyrfsTer27) c.1343del (p.Ser448TyrfsTer27) n.290-1301del c.1322del (p.Ser441TyrfsTer27) c.*790del (n.*790del) c.911del (p.Ser304TyrfsTer27) c.794del (p.Ser265TyrfsTer27) | dbSNP |
| 8 | g.27463055G>A | CA370808000 | CHRNA2 | c.1388C>T (p.Ser463Leu) c.1343C>T (p.Ser448Leu) n.290-1301C>T c.1322C>T (p.Ser441Leu) c.*790C>T (n.*790C>T) c.911C>T (p.Ser304Leu) c.794C>T (p.Ser265Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463055G>C | CA370808002 | CHRNA2 | c.1388C>G (p.Ser463Ter) c.1343C>G (p.Ser448Ter) n.290-1301C>G c.1322C>G (p.Ser441Ter) c.*790C>G (n.*790C>G) c.911C>G (p.Ser304Ter) c.794C>G (p.Ser265Ter) | |
| 8 | g.27463055G= | CA1772813320 | CHRNA2 | c.1388C= (p.Ser463=) c.1343C= (p.Ser448=) n.290-1301C= c.1322C= (p.Ser441=) c.*790C= (n.*790C=) c.911C= (p.Ser304=) c.794C= (p.Ser265=) | |
| 8 | g.27463055G>T | CA370808003 | CHRNA2 | c.1388C>A (p.Ser463Ter) c.1343C>A (p.Ser448Ter) n.290-1301C>A c.1322C>A (p.Ser441Ter) c.*790C>A (n.*790C>A) c.911C>A (p.Ser304Ter) c.794C>A (p.Ser265Ter) | |
| 8 | g.27463056A>C | CA370808007 | CHRNA2 | c.1387T>G (p.Ser463Ala) c.1342T>G (p.Ser448Ala) n.290-1302T>G c.1321T>G (p.Ser441Ala) c.*789T>G (n.*789T>G) c.910T>G (p.Ser304Ala) c.793T>G (p.Ser265Ala) | |
| 8 | g.27463056A>G | CA370808009 | CHRNA2 | c.1387T>C (p.Ser463Pro) c.1342T>C (p.Ser448Pro) n.290-1302T>C c.1321T>C (p.Ser441Pro) c.*789T>C (n.*789T>C) c.910T>C (p.Ser304Pro) c.793T>C (p.Ser265Pro) | |
| 8 | g.27463056A>T | CA370808008 | CHRNA2 | c.1387T>A (p.Ser463Thr) c.1342T>A (p.Ser448Thr) n.290-1302T>A c.1321T>A (p.Ser441Thr) c.*789T>A (n.*789T>A) c.910T>A (p.Ser304Thr) c.793T>A (p.Ser265Thr) | |
| 8 | g.27463057T>A | CA460046657 | CHRNA2 | c.1386A>T (p.Leu462=) c.1341A>T (p.Leu447=) n.290-1303A>T c.1320A>T (p.Leu440=) c.*788A>T (n.*788A>T) c.909A>T (p.Leu303=) c.792A>T (p.Leu264=) | |
| 8 | g.27463057T>C | CA460046658 | CHRNA2 | c.1386A>G (p.Leu462=) c.1341A>G (p.Leu447=) n.290-1303A>G c.1320A>G (p.Leu440=) c.*788A>G (n.*788A>G) c.909A>G (p.Leu303=) c.792A>G (p.Leu264=) | gnomAD v4 |
| 8 | g.27463057T>G | CA460046656 | CHRNA2 | c.1386A>C (p.Leu462=) c.1341A>C (p.Leu447=) n.290-1303A>C c.1320A>C (p.Leu440=) c.*788A>C (n.*788A>C) c.909A>C (p.Leu303=) c.792A>C (p.Leu264=) | gnomAD v4 |
| 8 | g.27463058A= | CA1772813322 | CHRNA2 | c.1385T= (p.Leu462=) c.1340T= (p.Leu447=) n.290-1304T= c.1319T= (p.Leu440=) c.*787T= (n.*787T=) c.908T= (p.Leu303=) c.791T= (p.Leu264=) | |
| 8 | g.27463058A>C | CA370808011 | CHRNA2 | c.1385T>G (p.Leu462Arg) c.1340T>G (p.Leu447Arg) n.290-1304T>G c.1319T>G (p.Leu440Arg) c.*787T>G (n.*787T>G) c.908T>G (p.Leu303Arg) c.791T>G (p.Leu264Arg) | |
| 8 | g.27463058A>G | CA174238414 | CHRNA2 | c.1385T>C (p.Leu462Pro) c.1340T>C (p.Leu447Pro) n.290-1304T>C c.1319T>C (p.Leu440Pro) c.*787T>C (n.*787T>C) c.908T>C (p.Leu303Pro) c.791T>C (p.Leu264Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463058A>T | CA370808015 | CHRNA2 | c.1385T>A (p.Leu462Gln) c.1340T>A (p.Leu447Gln) n.290-1304T>A c.1319T>A (p.Leu440Gln) c.*787T>A (n.*787T>A) c.908T>A (p.Leu303Gln) c.791T>A (p.Leu264Gln) | |
| 8 | g.27463059G>A | CA460046659 | CHRNA2 | c.1384C>T (p.Leu462=) c.1339C>T (p.Leu447=) n.290-1305C>T c.1318C>T (p.Leu440=) c.*786C>T (n.*786C>T) c.907C>T (p.Leu303=) c.790C>T (p.Leu264=) | dbSNP |
| 8 | g.27463059G>C | CA370808017 | CHRNA2 | c.1384C>G (p.Leu462Val) c.1339C>G (p.Leu447Val) n.290-1305C>G c.1318C>G (p.Leu440Val) c.*786C>G (n.*786C>G) c.907C>G (p.Leu303Val) c.790C>G (p.Leu264Val) | |
| 8 | g.27463059G= | CA1772813324 | CHRNA2 | c.1384C= (p.Leu462=) c.1339C= (p.Leu447=) n.290-1305C= c.1318C= (p.Leu440=) c.*786C= (n.*786C=) c.907C= (p.Leu303=) c.790C= (p.Leu264=) | |
| 8 | g.27463059G>T | CA370808019 | CHRNA2 | c.1384C>A (p.Leu462Ile) c.1339C>A (p.Leu447Ile) n.290-1305C>A c.1318C>A (p.Leu440Ile) c.*786C>A (n.*786C>A) c.907C>A (p.Leu303Ile) c.790C>A (p.Leu264Ile) | |
| 8 | g.27463060C>A | CA460046660 | CHRNA2 | c.1383G>T (p.Leu461=) c.1338G>T (p.Leu446=) n.290-1306G>T c.1317G>T (p.Leu439=) c.*785G>T (n.*785G>T) c.906G>T (p.Leu302=) c.789G>T (p.Leu263=) | |
| 8 | g.27463060C>G | CA460046661 | CHRNA2 | c.1383G>C (p.Leu461=) c.1338G>C (p.Leu446=) n.290-1306G>C c.1317G>C (p.Leu439=) c.*785G>C (n.*785G>C) c.906G>C (p.Leu302=) c.789G>C (p.Leu263=) | |
| 8 | g.27463060C>T | CA460046662 | CHRNA2 | c.1383G>A (p.Leu461=) c.1338G>A (p.Leu446=) n.290-1306G>A c.1317G>A (p.Leu439=) c.*785G>A (n.*785G>A) c.906G>A (p.Leu302=) c.789G>A (p.Leu263=) | |
| 8 | g.27463061A= | CA1772813326 | CHRNA2 | c.1382T= (p.Leu461=) c.1337T= (p.Leu446=) n.290-1307T= c.1316T= (p.Leu439=) c.*784T= (n.*784T=) c.905T= (p.Leu302=) c.788T= (p.Leu263=) | |
| 8 | g.27463061A>C | CA370808021 | CHRNA2 | c.1382T>G (p.Leu461Arg) c.1337T>G (p.Leu446Arg) n.290-1307T>G c.1316T>G (p.Leu439Arg) c.*784T>G (n.*784T>G) c.905T>G (p.Leu302Arg) c.788T>G (p.Leu263Arg) | dbSNP |
| 8 | g.27463061A>G | CA370808024 | CHRNA2 | c.1382T>C (p.Leu461Pro) c.1337T>C (p.Leu446Pro) n.290-1307T>C c.1316T>C (p.Leu439Pro) c.*784T>C (n.*784T>C) c.905T>C (p.Leu302Pro) c.788T>C (p.Leu263Pro) | |
| 8 | g.27463061A>T | CA370808025 | CHRNA2 | c.1382T>A (p.Leu461Gln) c.1337T>A (p.Leu446Gln) n.290-1307T>A c.1316T>A (p.Leu439Gln) c.*784T>A (n.*784T>A) c.905T>A (p.Leu302Gln) c.788T>A (p.Leu263Gln) | |
| 8 | g.27463062G>A | CA4689468 | CHRNA2 | c.1381C>T (p.Leu461=) c.1336C>T (p.Leu446=) n.290-1308C>T c.1315C>T (p.Leu439=) c.*783C>T (n.*783C>T) c.904C>T (p.Leu302=) c.787C>T (p.Leu263=) | dbSNP ExAC gnomAD v2 |
| 8 | g.27463062G>C | CA370808029 | CHRNA2 | c.1381C>G (p.Leu461Val) c.1336C>G (p.Leu446Val) n.290-1308C>G c.1315C>G (p.Leu439Val) c.*783C>G (n.*783C>G) c.904C>G (p.Leu302Val) c.787C>G (p.Leu263Val) | dbSNP |
| 8 | g.27463062G= | CA1772813331 | CHRNA2 | c.1381C= (p.Leu461=) c.1336C= (p.Leu446=) n.290-1308C= c.1315C= (p.Leu439=) c.*783C= (n.*783C=) c.904C= (p.Leu302=) c.787C= (p.Leu263=) | |
| 8 | g.27463062G>T | CA370808031 | CHRNA2 | c.1381C>A (p.Leu461Met) c.1336C>A (p.Leu446Met) n.290-1308C>A c.1315C>A (p.Leu439Met) c.*783C>A (n.*783C>A) c.904C>A (p.Leu302Met) c.787C>A (p.Leu263Met) | gnomAD v4 |
| 8 | g.27463063C>A | CA460046663 | CHRNA2 | c.1380G>T (p.Leu460=) c.1335G>T (p.Leu445=) n.290-1309G>T c.1314G>T (p.Leu438=) c.*782G>T (n.*782G>T) c.903G>T (p.Leu301=) c.786G>T (p.Leu262=) | |
| 8 | g.27463063C>G | CA460046664 | CHRNA2 | c.1380G>C (p.Leu460=) c.1335G>C (p.Leu445=) n.290-1309G>C c.1314G>C (p.Leu438=) c.*782G>C (n.*782G>C) c.903G>C (p.Leu301=) c.786G>C (p.Leu262=) | |
| 8 | g.27463063C>T | CA460046665 | CHRNA2 | c.1380G>A (p.Leu460=) c.1335G>A (p.Leu445=) n.290-1309G>A c.1314G>A (p.Leu438=) c.*782G>A (n.*782G>A) c.903G>A (p.Leu301=) c.786G>A (p.Leu262=) | |
| 8 | g.27463064A>C | CA370808033 | CHRNA2 | c.1379T>G (p.Leu460Arg) c.1334T>G (p.Leu445Arg) n.290-1310T>G c.1313T>G (p.Leu438Arg) c.*781T>G (n.*781T>G) c.902T>G (p.Leu301Arg) c.785T>G (p.Leu262Arg) | |
| 8 | g.27463064A>G | CA370808036 | CHRNA2 | c.1379T>C (p.Leu460Pro) c.1334T>C (p.Leu445Pro) n.290-1310T>C c.1313T>C (p.Leu438Pro) c.*781T>C (n.*781T>C) c.902T>C (p.Leu301Pro) c.785T>C (p.Leu262Pro) | |
| 8 | g.27463064A>T | CA370808035 | CHRNA2 | c.1379T>A (p.Leu460Gln) c.1334T>A (p.Leu445Gln) n.290-1310T>A c.1313T>A (p.Leu438Gln) c.*781T>A (n.*781T>A) c.902T>A (p.Leu301Gln) c.785T>A (p.Leu262Gln) | |
| 8 | g.27463065G>A | CA4689469 | CHRNA2 | c.1378C>T (p.Leu460=) c.1333C>T (p.Leu445=) n.290-1311C>T c.1312C>T (p.Leu438=) c.*780C>T (n.*780C>T) c.901C>T (p.Leu301=) c.784C>T (p.Leu262=) | ClinVar dbSNP ExAC gnomAD v4 |
| 8 | g.27463065G>C | CA370808041 | CHRNA2 | c.1378C>G (p.Leu460Val) c.1333C>G (p.Leu445Val) n.290-1311C>G c.1312C>G (p.Leu438Val) c.*780C>G (n.*780C>G) c.901C>G (p.Leu301Val) c.784C>G (p.Leu262Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463065G= | CA1772813335 | CHRNA2 | c.1378C= (p.Leu460=) c.1333C= (p.Leu445=) n.290-1311C= c.1312C= (p.Leu438=) c.*780C= (n.*780C=) c.901C= (p.Leu301=) c.784C= (p.Leu262=) | |
| 8 | g.27463065G>T | CA370808042 | CHRNA2 | c.1378C>A (p.Leu460Met) c.1333C>A (p.Leu445Met) n.290-1311C>A c.1312C>A (p.Leu438Met) c.*780C>A (n.*780C>A) c.901C>A (p.Leu301Met) c.784C>A (p.Leu262Met) | ClinVar dbSNP |
| 8 | g.27463066C>A | CA370808044 | CHRNA2 | c.1377G>T (p.Glu459Asp) c.1332G>T (p.Glu444Asp) n.290-1312G>T c.1311G>T (p.Glu437Asp) c.*779G>T (n.*779G>T) c.900G>T (p.Glu300Asp) c.783G>T (p.Glu261Asp) | |
| 8 | g.27463066C>G | CA370808046 | CHRNA2 | c.1377G>C (p.Glu459Asp) c.1332G>C (p.Glu444Asp) n.290-1312G>C c.1311G>C (p.Glu437Asp) c.*779G>C (n.*779G>C) c.900G>C (p.Glu300Asp) c.783G>C (p.Glu261Asp) | |
| 8 | g.27463066C>T | CA460046666 | CHRNA2 | c.1377G>A (p.Glu459=) c.1332G>A (p.Glu444=) n.290-1312G>A c.1311G>A (p.Glu437=) c.*779G>A (n.*779G>A) c.900G>A (p.Glu300=) c.783G>A (p.Glu261=) | |
| 8 | g.27463067T>A | CA370808047 | CHRNA2 | c.1376A>T (p.Glu459Val) c.1331A>T (p.Glu444Val) n.290-1313A>T c.1310A>T (p.Glu437Val) c.*778A>T (n.*778A>T) c.899A>T (p.Glu300Val) c.782A>T (p.Glu261Val) | |
| 8 | g.27463067T>C | CA370808048 | CHRNA2 | c.1376A>G (p.Glu459Gly) c.1331A>G (p.Glu444Gly) n.290-1313A>G c.1310A>G (p.Glu437Gly) c.*778A>G (n.*778A>G) c.899A>G (p.Glu300Gly) c.782A>G (p.Glu261Gly) | |
| 8 | g.27463067T>G | CA370808050 | CHRNA2 | c.1376A>C (p.Glu459Ala) c.1331A>C (p.Glu444Ala) n.290-1313A>C c.1310A>C (p.Glu437Ala) c.*778A>C (n.*778A>C) c.899A>C (p.Glu300Ala) c.782A>C (p.Glu261Ala) | |
| 8 | g.27463068C>A | CA370808052 | CHRNA2 | c.1375G>T (p.Glu459Ter) c.1330G>T (p.Glu444Ter) n.290-1314G>T c.1309G>T (p.Glu437Ter) c.*777G>T (n.*777G>T) c.898G>T (p.Glu300Ter) c.781G>T (p.Glu261Ter) | |
| 8 | g.27463068C>G | CA370808054 | CHRNA2 | c.1375G>C (p.Glu459Gln) c.1330G>C (p.Glu444Gln) n.290-1314G>C c.1309G>C (p.Glu437Gln) c.*777G>C (n.*777G>C) c.898G>C (p.Glu300Gln) c.781G>C (p.Glu261Gln) | |
| 8 | g.27463068C>T | CA370808056 | CHRNA2 | c.1375G>A (p.Glu459Lys) c.1330G>A (p.Glu444Lys) n.290-1314G>A c.1309G>A (p.Glu437Lys) c.*777G>A (n.*777G>A) c.898G>A (p.Glu300Lys) c.781G>A (p.Glu261Lys) | |
| 8 | g.27463069A= | CA1772813343 | CHRNA2 | c.1374T= (p.Gly458=) c.1329T= (p.Gly443=) n.290-1315T= c.1308T= (p.Gly436=) c.*776T= (n.*776T=) c.897T= (p.Gly299=) c.780T= (p.Gly260=) | |
| 8 | g.27463069A>C | CA174238417 | CHRNA2 | c.1374T>G (p.Gly458=) c.1329T>G (p.Gly443=) n.290-1315T>G c.1308T>G (p.Gly436=) c.*776T>G (n.*776T>G) c.897T>G (p.Gly299=) c.780T>G (p.Gly260=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463069A>G | CA460046667 | CHRNA2 | c.1374T>C (p.Gly458=) c.1329T>C (p.Gly443=) n.290-1315T>C c.1308T>C (p.Gly436=) c.*776T>C (n.*776T>C) c.897T>C (p.Gly299=) c.780T>C (p.Gly260=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463069A>T | CA460046668 | CHRNA2 | c.1374T>A (p.Gly458=) c.1329T>A (p.Gly443=) n.290-1315T>A c.1308T>A (p.Gly436=) c.*776T>A (n.*776T>A) c.897T>A (p.Gly299=) c.780T>A (p.Gly260=) | |
| 8 | g.27463070C>A | CA370808058 | CHRNA2 | c.1373G>T (p.Gly458Val) c.1328G>T (p.Gly443Val) n.290-1316G>T c.1307G>T (p.Gly436Val) c.*775G>T (n.*775G>T) c.896G>T (p.Gly299Val) c.779G>T (p.Gly260Val) | |
| 8 | g.27463070C= | CA1772813354 | CHRNA2 | c.1373G= (p.Gly458=) c.1328G= (p.Gly443=) n.290-1316G= c.1307G= (p.Gly436=) c.*775G= (n.*775G=) c.896G= (p.Gly299=) c.779G= (p.Gly260=) | |
| 8 | g.27463070C>G | CA313502 | CHRNA2 | c.1373G>C (p.Gly458Ala) c.1328G>C (p.Gly443Ala) n.290-1316G>C c.1307G>C (p.Gly436Ala) c.*775G>C (n.*775G>C) c.896G>C (p.Gly299Ala) c.779G>C (p.Gly260Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463070C>T | CA370808060 | CHRNA2 | c.1373G>A (p.Gly458Asp) c.1328G>A (p.Gly443Asp) n.290-1316G>A c.1307G>A (p.Gly436Asp) c.*775G>A (n.*775G>A) c.896G>A (p.Gly299Asp) c.779G>A (p.Gly260Asp) | gnomAD v4 |
| 8 | g.27463072dup | CA1772813355 | CHRNA2 | c.1373dup (p.Glu459Ter) c.1328dup (p.Glu444Ter) n.290-1316dup c.1307dup (p.Glu437Ter) c.*775dup (n.*775dup) c.896dup (p.Glu300Ter) c.779dup (p.Glu261Ter) | dbSNP |
| 8 | g.27463071C>A | CA370808069 | CHRNA2 | c.1372G>T (p.Gly458Cys) c.1327G>T (p.Gly443Cys) n.290-1317G>T c.1306G>T (p.Gly436Cys) c.*774G>T (n.*774G>T) c.895G>T (p.Gly299Cys) c.778G>T (p.Gly260Cys) | gnomAD v4 |
| 8 | g.27463071C= | CA1772813359 | CHRNA2 | c.1372G= (p.Gly458=) c.1327G= (p.Gly443=) n.290-1317G= c.1306G= (p.Gly436=) c.*774G= (n.*774G=) c.895G= (p.Gly299=) c.778G= (p.Gly260=) | |
| 8 | g.27463071C>G | CA370808062 | CHRNA2 | c.1372G>C (p.Gly458Arg) c.1327G>C (p.Gly443Arg) n.290-1317G>C c.1306G>C (p.Gly436Arg) c.*774G>C (n.*774G>C) c.895G>C (p.Gly299Arg) c.778G>C (p.Gly260Arg) | gnomAD v4 |
| 8 | g.27463071C>T | CA4689470 | CHRNA2 | c.1372G>A (p.Gly458Ser) c.1327G>A (p.Gly443Ser) n.290-1317G>A c.1306G>A (p.Gly436Ser) c.*774G>A (n.*774G>A) c.895G>A (p.Gly299Ser) c.778G>A (p.Gly260Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463072C>A | CA370808071 | CHRNA2 | c.1371G>T (p.Glu457Asp) c.1326G>T (p.Glu442Asp) n.290-1318G>T c.1305G>T (p.Glu435Asp) c.*773G>T (n.*773G>T) c.894G>T (p.Glu298Asp) c.777G>T (p.Glu259Asp) | |
| 8 | g.27463072C= | CA1772813364 | CHRNA2 | c.1371G= (p.Glu457=) c.1326G= (p.Glu442=) n.290-1318G= c.1305G= (p.Glu435=) c.*773G= (n.*773G=) c.894G= (p.Glu298=) c.777G= (p.Glu259=) | |
| 8 | g.27463072C>G | CA4689471 | CHRNA2 | c.1371G>C (p.Glu457Asp) c.1326G>C (p.Glu442Asp) n.290-1318G>C c.1305G>C (p.Glu435Asp) c.*773G>C (n.*773G>C) c.894G>C (p.Glu298Asp) c.777G>C (p.Glu259Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463072C>T | CA460046669 | CHRNA2 | c.1371G>A (p.Glu457=) c.1326G>A (p.Glu442=) n.290-1318G>A c.1305G>A (p.Glu435=) c.*773G>A (n.*773G>A) c.894G>A (p.Glu298=) c.777G>A (p.Glu259=) | |
| 8 | g.27463073T>A | CA370808074 | CHRNA2 | c.1370A>T (p.Glu457Val) c.1325A>T (p.Glu442Val) n.290-1319A>T c.1304A>T (p.Glu435Val) c.*772A>T (n.*772A>T) c.893A>T (p.Glu298Val) c.776A>T (p.Glu259Val) | |
| 8 | g.27463073T>C | CA370808075 | CHRNA2 | c.1370A>G (p.Glu457Gly) c.1325A>G (p.Glu442Gly) n.290-1319A>G c.1304A>G (p.Glu435Gly) c.*772A>G (n.*772A>G) c.893A>G (p.Glu298Gly) c.776A>G (p.Glu259Gly) | dbSNP |
| 8 | g.27463073T>G | CA370808077 | CHRNA2 | c.1370A>C (p.Glu457Ala) c.1325A>C (p.Glu442Ala) n.290-1319A>C c.1304A>C (p.Glu435Ala) c.*772A>C (n.*772A>C) c.893A>C (p.Glu298Ala) c.776A>C (p.Glu259Ala) | |
| 8 | g.27463073T= | CA1772813367 | CHRNA2 | c.1370A= (p.Glu457=) c.1325A= (p.Glu442=) n.290-1319A= c.1304A= (p.Glu435=) c.*772A= (n.*772A=) c.893A= (p.Glu298=) c.776A= (p.Glu259=) | |
| 8 | g.27463074C>A | CA370808078 | CHRNA2 | c.1369G>T (p.Glu457Ter) c.1324G>T (p.Glu442Ter) n.290-1320G>T c.1303G>T (p.Glu435Ter) c.*771G>T (n.*771G>T) c.892G>T (p.Glu298Ter) c.775G>T (p.Glu259Ter) | |
| 8 | g.27463074C= | CA1772813369 | CHRNA2 | c.1369G= (p.Glu457=) c.1324G= (p.Glu442=) n.290-1320G= c.1303G= (p.Glu435=) c.*771G= (n.*771G=) c.892G= (p.Glu298=) c.775G= (p.Glu259=) | |
| 8 | g.27463074C>G | CA370808080 | CHRNA2 | c.1369G>C (p.Glu457Gln) c.1324G>C (p.Glu442Gln) n.290-1320G>C c.1303G>C (p.Glu435Gln) c.*771G>C (n.*771G>C) c.892G>C (p.Glu298Gln) c.775G>C (p.Glu259Gln) | |
| 8 | g.27463074C>T | CA4689472 | CHRNA2 | c.1369G>A (p.Glu457Lys) c.1324G>A (p.Glu442Lys) n.290-1320G>A c.1303G>A (p.Glu435Lys) c.*771G>A (n.*771G>A) c.892G>A (p.Glu298Lys) c.775G>A (p.Glu259Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463075C>A | CA370808083 | CHRNA2 | c.1368G>T (p.Gln456His) c.1323G>T (p.Gln441His) n.290-1321G>T c.1302G>T (p.Gln434His) c.*770G>T (n.*770G>T) c.891G>T (p.Gln297His) c.774G>T (p.Gln258His) | |
| 8 | g.27463075C= | CA1772813373 | CHRNA2 | c.1368G= (p.Gln456=) c.1323G= (p.Gln441=) n.290-1321G= c.1302G= (p.Gln434=) c.*770G= (n.*770G=) c.891G= (p.Gln297=) c.774G= (p.Gln258=) | |
| 8 | g.27463075C>G | CA370808086 | CHRNA2 | c.1368G>C (p.Gln456His) c.1323G>C (p.Gln441His) n.290-1321G>C c.1302G>C (p.Gln434His) c.*770G>C (n.*770G>C) c.891G>C (p.Gln297His) c.774G>C (p.Gln258His) | |
| 8 | g.27463075C>T | CA174238425 | CHRNA2 | c.1368G>A (p.Gln456=) c.1323G>A (p.Gln441=) n.290-1321G>A c.1302G>A (p.Gln434=) c.*770G>A (n.*770G>A) c.891G>A (p.Gln297=) c.774G>A (p.Gln258=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463076del | CA2686678217 | CHRNA2 | c.1367del (p.Gln456ArgfsTer?) c.1322del (p.Gln441ArgfsTer?) n.290-1322del c.1301del (p.Gln434ArgfsTer?) c.*769del (n.*769del) c.890del (p.Gln297ArgfsTer?) c.773del (p.Gln258ArgfsTer?) | gnomAD v4 |
| 8 | g.27463076T>A | CA370808087 | CHRNA2 | c.1367A>T (p.Gln456Leu) c.1322A>T (p.Gln441Leu) n.290-1322A>T c.1301A>T (p.Gln434Leu) c.*769A>T (n.*769A>T) c.890A>T (p.Gln297Leu) c.773A>T (p.Gln258Leu) | |
| 8 | g.27463076T>C | CA370808089 | CHRNA2 | c.1367A>G (p.Gln456Arg) c.1322A>G (p.Gln441Arg) n.290-1322A>G c.1301A>G (p.Gln434Arg) c.*769A>G (n.*769A>G) c.890A>G (p.Gln297Arg) c.773A>G (p.Gln258Arg) | |
| 8 | g.27463076T>G | CA370808090 | CHRNA2 | c.1367A>C (p.Gln456Pro) c.1322A>C (p.Gln441Pro) n.290-1322A>C c.1301A>C (p.Gln434Pro) c.*769A>C (n.*769A>C) c.890A>C (p.Gln297Pro) c.773A>C (p.Gln258Pro) | |
| 8 | g.27463077G>A | CA370808094 | CHRNA2 | c.1366C>T (p.Gln456Ter) c.1321C>T (p.Gln441Ter) n.290-1323C>T c.1300C>T (p.Gln434Ter) c.*768C>T (n.*768C>T) c.889C>T (p.Gln297Ter) c.772C>T (p.Gln258Ter) | gnomAD v4 |
| 8 | g.27463077G>C | CA370808095 | CHRNA2 | c.1366C>G (p.Gln456Glu) c.1321C>G (p.Gln441Glu) n.290-1323C>G c.1300C>G (p.Gln434Glu) c.*768C>G (n.*768C>G) c.889C>G (p.Gln297Glu) c.772C>G (p.Gln258Glu) | ClinVar |
| 8 | g.27463077G>T | CA370808092 | CHRNA2 | c.1366C>A (p.Gln456Lys) c.1321C>A (p.Gln441Lys) n.290-1323C>A c.1300C>A (p.Gln434Lys) c.*768C>A (n.*768C>A) c.889C>A (p.Gln297Lys) c.772C>A (p.Gln258Lys) | |
| 8 | g.27463078C>A | CA4689473 | CHRNA2 | c.1365G>T (p.Leu455=) c.1320G>T (p.Leu440=) n.290-1324G>T c.1299G>T (p.Leu433=) c.*767G>T (n.*767G>T) c.888G>T (p.Leu296=) c.771G>T (p.Leu257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463078C= | CA1772813378 | CHRNA2 | c.1365G= (p.Leu455=) c.1320G= (p.Leu440=) n.290-1324G= c.1299G= (p.Leu433=) c.*767G= (n.*767G=) c.888G= (p.Leu296=) c.771G= (p.Leu257=) | |
| 8 | g.27463078C>G | CA460046670 | CHRNA2 | c.1365G>C (p.Leu455=) c.1320G>C (p.Leu440=) n.290-1324G>C c.1299G>C (p.Leu433=) c.*767G>C (n.*767G>C) c.888G>C (p.Leu296=) c.771G>C (p.Leu257=) | |
| 8 | g.27463078C>T | CA460046671 | CHRNA2 | c.1365G>A (p.Leu455=) c.1320G>A (p.Leu440=) n.290-1324G>A c.1299G>A (p.Leu433=) c.*767G>A (n.*767G>A) c.888G>A (p.Leu296=) c.771G>A (p.Leu257=) | ClinVar dbSNP |
| 8 | g.27463079A= | CA1772813382 | CHRNA2 | c.1364T= (p.Leu455=) c.1319T= (p.Leu440=) n.290-1325T= c.1298T= (p.Leu433=) c.*766T= (n.*766T=) c.887T= (p.Leu296=) c.770T= (p.Leu257=) | |
| 8 | g.27463079A>C | CA370808102 | CHRNA2 | c.1364T>G (p.Leu455Arg) c.1319T>G (p.Leu440Arg) n.290-1325T>G c.1298T>G (p.Leu433Arg) c.*766T>G (n.*766T>G) c.887T>G (p.Leu296Arg) c.770T>G (p.Leu257Arg) | |
| 8 | g.27463079A>G | CA370808105 | CHRNA2 | c.1364T>C (p.Leu455Pro) c.1319T>C (p.Leu440Pro) n.290-1325T>C c.1298T>C (p.Leu433Pro) c.*766T>C (n.*766T>C) c.887T>C (p.Leu296Pro) c.770T>C (p.Leu257Pro) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463079A>T | CA370808107 | CHRNA2 | c.1364T>A (p.Leu455Gln) c.1319T>A (p.Leu440Gln) n.290-1325T>A c.1298T>A (p.Leu433Gln) c.*766T>A (n.*766T>A) c.887T>A (p.Leu296Gln) c.770T>A (p.Leu257Gln) | |
| 8 | g.27463080G>A | CA460046672 | CHRNA2 | c.1363C>T (p.Leu455=) c.1318C>T (p.Leu440=) n.290-1326C>T c.1297C>T (p.Leu433=) c.*765C>T (n.*765C>T) c.886C>T (p.Leu296=) c.769C>T (p.Leu257=) | |
| 8 | g.27463080G>C | CA370808109 | CHRNA2 | c.1363C>G (p.Leu455Val) c.1318C>G (p.Leu440Val) n.290-1326C>G c.1297C>G (p.Leu433Val) c.*765C>G (n.*765C>G) c.886C>G (p.Leu296Val) c.769C>G (p.Leu257Val) | |
| 8 | g.27463080G>T | CA370808110 | CHRNA2 | c.1363C>A (p.Leu455Met) c.1318C>A (p.Leu440Met) n.290-1326C>A c.1297C>A (p.Leu433Met) c.*765C>A (n.*765C>A) c.886C>A (p.Leu296Met) c.769C>A (p.Leu257Met) | |
| 8 | g.27463081C>A | CA460046673 | CHRNA2 | c.1362G>T (p.Leu454=) c.1317G>T (p.Leu439=) n.290-1327G>T c.1296G>T (p.Leu432=) c.*764G>T (n.*764G>T) c.885G>T (p.Leu295=) c.768G>T (p.Leu256=) | |
| 8 | g.27463081C>G | CA460046675 | CHRNA2 | c.1362G>C (p.Leu454=) c.1317G>C (p.Leu439=) n.290-1327G>C c.1296G>C (p.Leu432=) c.*764G>C (n.*764G>C) c.885G>C (p.Leu295=) c.768G>C (p.Leu256=) | |
| 8 | g.27463081C>T | CA460046674 | CHRNA2 | c.1362G>A (p.Leu454=) c.1317G>A (p.Leu439=) n.290-1327G>A c.1296G>A (p.Leu432=) c.*764G>A (n.*764G>A) c.885G>A (p.Leu295=) c.768G>A (p.Leu256=) | ClinVar |
| 8 | g.27463082A= | CA1772813384 | CHRNA2 | c.1361T= (p.Leu454=) c.1316T= (p.Leu439=) n.290-1328T= c.1295T= (p.Leu432=) c.*763T= (n.*763T=) c.884T= (p.Leu295=) c.767T= (p.Leu256=) | |
| 8 | g.27463082A>C | CA370808117 | CHRNA2 | c.1361T>G (p.Leu454Arg) c.1316T>G (p.Leu439Arg) n.290-1328T>G c.1295T>G (p.Leu432Arg) c.*763T>G (n.*763T>G) c.884T>G (p.Leu295Arg) c.767T>G (p.Leu256Arg) | |
| 8 | g.27463082A>G | CA174238448 | CHRNA2 | c.1361T>C (p.Leu454Pro) c.1316T>C (p.Leu439Pro) n.290-1328T>C c.1295T>C (p.Leu432Pro) c.*763T>C (n.*763T>C) c.884T>C (p.Leu295Pro) c.767T>C (p.Leu256Pro) | dbSNP |
| 8 | g.27463082A>T | CA370808116 | CHRNA2 | c.1361T>A (p.Leu454Gln) c.1316T>A (p.Leu439Gln) n.290-1328T>A c.1295T>A (p.Leu432Gln) c.*763T>A (n.*763T>A) c.884T>A (p.Leu295Gln) c.767T>A (p.Leu256Gln) | |
| 8 | g.27463082dup | CA2579127521 | CHRNA2 | c.1361dup (p.Leu455AlafsTer5) c.1316dup (p.Leu440AlafsTer5) n.290-1328dup c.1295dup (p.Leu433AlafsTer5) c.*763dup (n.*763dup) c.884dup (p.Leu296AlafsTer5) c.767dup (p.Leu257AlafsTer5) | |
| 8 | g.27463083G>A | CA460046676 | CHRNA2 | c.1360C>T (p.Leu454=) c.1315C>T (p.Leu439=) n.290-1329C>T c.1294C>T (p.Leu432=) c.*762C>T (n.*762C>T) c.883C>T (p.Leu295=) c.766C>T (p.Leu256=) | gnomAD v4 |
| 8 | g.27463083G>C | CA370808118 | CHRNA2 | c.1360C>G (p.Leu454Val) c.1315C>G (p.Leu439Val) n.290-1329C>G c.1294C>G (p.Leu432Val) c.*762C>G (n.*762C>G) c.883C>G (p.Leu295Val) c.766C>G (p.Leu256Val) | gnomAD v4 |
| 8 | g.27463083G>T | CA370808119 | CHRNA2 | c.1360C>A (p.Leu454Met) c.1315C>A (p.Leu439Met) n.290-1329C>A c.1294C>A (p.Leu432Met) c.*762C>A (n.*762C>A) c.883C>A (p.Leu295Met) c.766C>A (p.Leu256Met) | |
| 8 | g.27463084A>C | CA460046677 | CHRNA2 | c.1359T>G (p.Ala453=) c.1314T>G (p.Ala438=) n.290-1330T>G c.1293T>G (p.Ala431=) c.*761T>G (n.*761T>G) c.882T>G (p.Ala294=) c.765T>G (p.Ala255=) | |
| 8 | g.27463084A>G | CA460046678 | CHRNA2 | c.1359T>C (p.Ala453=) c.1314T>C (p.Ala438=) n.290-1330T>C c.1293T>C (p.Ala431=) c.*761T>C (n.*761T>C) c.882T>C (p.Ala294=) c.765T>C (p.Ala255=) | |
| 8 | g.27463084A>T | CA460046679 | CHRNA2 | c.1359T>A (p.Ala453=) c.1314T>A (p.Ala438=) n.290-1330T>A c.1293T>A (p.Ala431=) c.*761T>A (n.*761T>A) c.882T>A (p.Ala294=) c.765T>A (p.Ala255=) | |
| 8 | g.27463085G>A | CA370808120 | CHRNA2 | c.1358C>T (p.Ala453Val) c.1313C>T (p.Ala438Val) n.290-1331C>T c.1292C>T (p.Ala431Val) c.*760C>T (n.*760C>T) c.881C>T (p.Ala294Val) c.764C>T (p.Ala255Val) | COSMIC |
| 8 | g.27463085G>C | CA370808121 | CHRNA2 | c.1358C>G (p.Ala453Gly) c.1313C>G (p.Ala438Gly) n.290-1331C>G c.1292C>G (p.Ala431Gly) c.*760C>G (n.*760C>G) c.881C>G (p.Ala294Gly) c.764C>G (p.Ala255Gly) | |
| 8 | g.27463085G>T | CA370808127 | CHRNA2 | c.1358C>A (p.Ala453Asp) c.1313C>A (p.Ala438Asp) n.290-1331C>A c.1292C>A (p.Ala431Asp) c.*760C>A (n.*760C>A) c.881C>A (p.Ala294Asp) c.764C>A (p.Ala255Asp) | |
| 8 | g.27463086C>A | CA370808129 | CHRNA2 | c.1357G>T (p.Ala453Ser) c.1312G>T (p.Ala438Ser) n.290-1332G>T c.1291G>T (p.Ala431Ser) c.*759G>T (n.*759G>T) c.880G>T (p.Ala294Ser) c.763G>T (p.Ala255Ser) | |
| 8 | g.27463086C>G | CA370808132 | CHRNA2 | c.1357G>C (p.Ala453Pro) c.1312G>C (p.Ala438Pro) n.290-1332G>C c.1291G>C (p.Ala431Pro) c.*759G>C (n.*759G>C) c.880G>C (p.Ala294Pro) c.763G>C (p.Ala255Pro) | |
| 8 | g.27463086C>T | CA370808130 | CHRNA2 | c.1357G>A (p.Ala453Thr) c.1312G>A (p.Ala438Thr) n.290-1332G>A c.1291G>A (p.Ala431Thr) c.*759G>A (n.*759G>A) c.880G>A (p.Ala294Thr) c.763G>A (p.Ala255Thr) | |
| 8 | g.27463087C>A | CA370808134 | CHRNA2 | c.1356G>T (p.Glu452Asp) c.1311G>T (p.Glu437Asp) n.290-1333G>T c.1290G>T (p.Glu430Asp) c.*758G>T (n.*758G>T) c.879G>T (p.Glu293Asp) c.762G>T (p.Glu254Asp) | |
| 8 | g.27463087C>G | CA370808136 | CHRNA2 | c.1356G>C (p.Glu452Asp) c.1311G>C (p.Glu437Asp) n.290-1333G>C c.1290G>C (p.Glu430Asp) c.*758G>C (n.*758G>C) c.879G>C (p.Glu293Asp) c.762G>C (p.Glu254Asp) | |
| 8 | g.27463087C>T | CA460046680 | CHRNA2 | c.1356G>A (p.Glu452=) c.1311G>A (p.Glu437=) n.290-1333G>A c.1290G>A (p.Glu430=) c.*758G>A (n.*758G>A) c.879G>A (p.Glu293=) c.762G>A (p.Glu254=) | |
| 8 | g.27463088T>A | CA370808140 | CHRNA2 | c.1355A>T (p.Glu452Val) c.1310A>T (p.Glu437Val) n.290-1334A>T c.1289A>T (p.Glu430Val) c.*757A>T (n.*757A>T) c.878A>T (p.Glu293Val) c.761A>T (p.Glu254Val) | |
| 8 | g.27463088T>C | CA370808141 | CHRNA2 | c.1355A>G (p.Glu452Gly) c.1310A>G (p.Glu437Gly) n.290-1334A>G c.1289A>G (p.Glu430Gly) c.*757A>G (n.*757A>G) c.878A>G (p.Glu293Gly) c.761A>G (p.Glu254Gly) | |
| 8 | g.27463088T>G | CA370808144 | CHRNA2 | c.1355A>C (p.Glu452Ala) c.1310A>C (p.Glu437Ala) n.290-1334A>C c.1289A>C (p.Glu430Ala) c.*757A>C (n.*757A>C) c.878A>C (p.Glu293Ala) c.761A>C (p.Glu254Ala) | |
| 8 | g.27463089C>A | CA4689474 | CHRNA2 | c.1354G>T (p.Glu452Ter) c.1309G>T (p.Glu437Ter) n.290-1335G>T c.1288G>T (p.Glu430Ter) c.*756G>T (n.*756G>T) c.877G>T (p.Glu293Ter) c.760G>T (p.Glu254Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463089C= | CA1772813390 | CHRNA2 | c.1354G= (p.Glu452=) c.1309G= (p.Glu437=) n.290-1335G= c.1288G= (p.Glu430=) c.*756G= (n.*756G=) c.877G= (p.Glu293=) c.760G= (p.Glu254=) | |
| 8 | g.27463089C>G | CA370808147 | CHRNA2 | c.1354G>C (p.Glu452Gln) c.1309G>C (p.Glu437Gln) n.290-1335G>C c.1288G>C (p.Glu430Gln) c.*756G>C (n.*756G>C) c.877G>C (p.Glu293Gln) c.760G>C (p.Glu254Gln) | |
| 8 | g.27463089C>T | CA370808149 | CHRNA2 | c.1354G>A (p.Glu452Lys) c.1309G>A (p.Glu437Lys) n.290-1335G>A c.1288G>A (p.Glu430Lys) c.*756G>A (n.*756G>A) c.877G>A (p.Glu293Lys) c.760G>A (p.Glu254Lys) | ClinVar dbSNP |
| 8 | g.27463090A>C | CA460046683 | CHRNA2 | c.1353T>G (p.Ala451=) c.1308T>G (p.Ala436=) n.290-1336T>G c.1287T>G (p.Ala429=) c.*755T>G (n.*755T>G) c.876T>G (p.Ala292=) c.759T>G (p.Ala253=) | |
| 8 | g.27463090A>G | CA460046682 | CHRNA2 | c.1353T>C (p.Ala451=) c.1308T>C (p.Ala436=) n.290-1336T>C c.1287T>C (p.Ala429=) c.*755T>C (n.*755T>C) c.876T>C (p.Ala292=) c.759T>C (p.Ala253=) | |
| 8 | g.27463090A>T | CA460046681 | CHRNA2 | c.1353T>A (p.Ala451=) c.1308T>A (p.Ala436=) n.290-1336T>A c.1287T>A (p.Ala429=) c.*755T>A (n.*755T>A) c.876T>A (p.Ala292=) c.759T>A (p.Ala253=) | |
| 8 | g.27463091G>A | CA4689475 | CHRNA2 | c.1352C>T (p.Ala451Val) c.1307C>T (p.Ala436Val) n.290-1337C>T c.1286C>T (p.Ala429Val) c.*754C>T (n.*754C>T) c.875C>T (p.Ala292Val) c.758C>T (p.Ala253Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463091G>C | CA370808152 | CHRNA2 | c.1352C>G (p.Ala451Gly) c.1307C>G (p.Ala436Gly) n.290-1337C>G c.1286C>G (p.Ala429Gly) c.*754C>G (n.*754C>G) c.875C>G (p.Ala292Gly) c.758C>G (p.Ala253Gly) | |
| 8 | g.27463091G= | CA1772813398 | CHRNA2 | c.1352C= (p.Ala451=) c.1307C= (p.Ala436=) n.290-1337C= c.1286C= (p.Ala429=) c.*754C= (n.*754C=) c.875C= (p.Ala292=) c.758C= (p.Ala253=) | |
| 8 | g.27463091G>T | CA370808153 | CHRNA2 | c.1352C>A (p.Ala451Asp) c.1307C>A (p.Ala436Asp) n.290-1337C>A c.1286C>A (p.Ala429Asp) c.*754C>A (n.*754C>A) c.875C>A (p.Ala292Asp) c.758C>A (p.Ala253Asp) | |
| 8 | g.27463092C>A | CA370808156 | CHRNA2 | c.1351G>T (p.Ala451Ser) c.1306G>T (p.Ala436Ser) n.290-1338G>T c.1285G>T (p.Ala429Ser) c.*753G>T (n.*753G>T) c.874G>T (p.Ala292Ser) c.757G>T (p.Ala253Ser) | |
| 8 | g.27463092C>G | CA370808160 | CHRNA2 | c.1351G>C (p.Ala451Pro) c.1306G>C (p.Ala436Pro) n.290-1338G>C c.1285G>C (p.Ala429Pro) c.*753G>C (n.*753G>C) c.874G>C (p.Ala292Pro) c.757G>C (p.Ala253Pro) | |
| 8 | g.27463092C>T | CA370808158 | CHRNA2 | c.1351G>A (p.Ala451Thr) c.1306G>A (p.Ala436Thr) n.290-1338G>A c.1285G>A (p.Ala429Thr) c.*753G>A (n.*753G>A) c.874G>A (p.Ala292Thr) c.757G>A (p.Ala253Thr) | COSMIC |
| 8 | g.27463093C>A | CA370808162 | CHRNA2 | c.1350G>T (p.Lys450Asn) c.1305G>T (p.Lys435Asn) n.290-1339G>T c.1284G>T (p.Lys428Asn) c.*752G>T (n.*752G>T) c.873G>T (p.Lys291Asn) c.756G>T (p.Lys252Asn) | ClinVar gnomAD v4 |
| 8 | g.27463093C>G | CA370808164 | CHRNA2 | c.1350G>C (p.Lys450Asn) c.1305G>C (p.Lys435Asn) n.290-1339G>C c.1284G>C (p.Lys428Asn) c.*752G>C (n.*752G>C) c.873G>C (p.Lys291Asn) c.756G>C (p.Lys252Asn) | |
| 8 | g.27463093C>T | CA460046684 | CHRNA2 | c.1350G>A (p.Lys450=) c.1305G>A (p.Lys435=) n.290-1339G>A c.1284G>A (p.Lys428=) c.*752G>A (n.*752G>A) c.873G>A (p.Lys291=) c.756G>A (p.Lys252=) | |
| 8 | g.27463094T>A | CA370808166 | CHRNA2 | c.1349A>T (p.Lys450Met) c.1304A>T (p.Lys435Met) n.290-1340A>T c.1283A>T (p.Lys428Met) c.*751A>T (n.*751A>T) c.872A>T (p.Lys291Met) c.755A>T (p.Lys252Met) | |
| 8 | g.27463094T>C | CA370808167 | CHRNA2 | c.1349A>G (p.Lys450Arg) c.1304A>G (p.Lys435Arg) n.290-1340A>G c.1283A>G (p.Lys428Arg) c.*751A>G (n.*751A>G) c.872A>G (p.Lys291Arg) c.755A>G (p.Lys252Arg) | |
| 8 | g.27463094T>G | CA370808170 | CHRNA2 | c.1349A>C (p.Lys450Thr) c.1304A>C (p.Lys435Thr) n.290-1340A>C c.1283A>C (p.Lys428Thr) c.*751A>C (n.*751A>C) c.872A>C (p.Lys291Thr) c.755A>C (p.Lys252Thr) | |
| 8 | g.27463095T>A | CA370808176 | CHRNA2 | c.1348A>T (p.Lys450Ter) c.1303A>T (p.Lys435Ter) n.290-1341A>T c.1282A>T (p.Lys428Ter) c.*750A>T (n.*750A>T) c.871A>T (p.Lys291Ter) c.754A>T (p.Lys252Ter) | |
| 8 | g.27463095T>C | CA370808174 | CHRNA2 | c.1348A>G (p.Lys450Glu) c.1303A>G (p.Lys435Glu) n.290-1341A>G c.1282A>G (p.Lys428Glu) c.*750A>G (n.*750A>G) c.871A>G (p.Lys291Glu) c.754A>G (p.Lys252Glu) | |
| 8 | g.27463095T>G | CA370808173 | CHRNA2 | c.1348A>C (p.Lys450Gln) c.1303A>C (p.Lys435Gln) n.290-1341A>C c.1282A>C (p.Lys428Gln) c.*750A>C (n.*750A>C) c.871A>C (p.Lys291Gln) c.754A>C (p.Lys252Gln) | |
| 8 | g.27463096G>A | CA460046685 | CHRNA2 | c.1347C>T (p.Pro449=) c.1302C>T (p.Pro434=) n.290-1342C>T c.1281C>T (p.Pro427=) c.*749C>T (n.*749C>T) c.870C>T (p.Pro290=) c.753C>T (p.Pro251=) | |
| 8 | g.27463096G>C | CA460046686 | CHRNA2 | c.1347C>G (p.Pro449=) c.1302C>G (p.Pro434=) n.290-1342C>G c.1281C>G (p.Pro427=) c.*749C>G (n.*749C>G) c.870C>G (p.Pro290=) c.753C>G (p.Pro251=) | |
| 8 | g.27463096G>T | CA460046687 | CHRNA2 | c.1347C>A (p.Pro449=) c.1302C>A (p.Pro434=) n.290-1342C>A c.1281C>A (p.Pro427=) c.*749C>A (n.*749C>A) c.870C>A (p.Pro290=) c.753C>A (p.Pro251=) | |
| 8 | g.27463097G>A | CA370808177 | CHRNA2 | c.1346C>T (p.Pro449Leu) c.1301C>T (p.Pro434Leu) n.290-1343C>T c.1280C>T (p.Pro427Leu) c.*748C>T (n.*748C>T) c.869C>T (p.Pro290Leu) c.752C>T (p.Pro251Leu) | |
| 8 | g.27463097G>C | CA370808179 | CHRNA2 | c.1346C>G (p.Pro449Arg) c.1301C>G (p.Pro434Arg) n.290-1343C>G c.1280C>G (p.Pro427Arg) c.*748C>G (n.*748C>G) c.869C>G (p.Pro290Arg) c.752C>G (p.Pro251Arg) | ClinVar |
| 8 | g.27463097G>T | CA370808180 | CHRNA2 | c.1346C>A (p.Pro449His) c.1301C>A (p.Pro434His) n.290-1343C>A c.1280C>A (p.Pro427His) c.*748C>A (n.*748C>A) c.869C>A (p.Pro290His) c.752C>A (p.Pro251His) | |
| 8 | g.27463098G>A | CA370808183 | CHRNA2 | c.1345C>T (p.Pro449Ser) c.1300C>T (p.Pro434Ser) n.290-1344C>T c.1279C>T (p.Pro427Ser) c.*747C>T (n.*747C>T) c.868C>T (p.Pro290Ser) c.751C>T (p.Pro251Ser) | ClinVar gnomAD v4 |
| 8 | g.27463098G>C | CA370808185 | CHRNA2 | c.1345C>G (p.Pro449Ala) c.1300C>G (p.Pro434Ala) n.290-1344C>G c.1279C>G (p.Pro427Ala) c.*747C>G (n.*747C>G) c.868C>G (p.Pro290Ala) c.751C>G (p.Pro251Ala) | dbSNP |
| 8 | g.27463098G= | CA1772813404 | CHRNA2 | c.1345C= (p.Pro449=) c.1300C= (p.Pro434=) n.290-1344C= c.1279C= (p.Pro427=) c.*747C= (n.*747C=) c.868C= (p.Pro290=) c.751C= (p.Pro251=) | |
| 8 | g.27463098G>T | CA370808187 | CHRNA2 | c.1345C>A (p.Pro449Thr) c.1300C>A (p.Pro434Thr) n.290-1344C>A c.1279C>A (p.Pro427Thr) c.*747C>A (n.*747C>A) c.868C>A (p.Pro290Thr) c.751C>A (p.Pro251Thr) | |
| 8 | g.27463099A>C | CA460046688 | CHRNA2 | c.1344T>G (p.Gly448=) c.1299T>G (p.Gly433=) n.290-1345T>G c.1278T>G (p.Gly426=) c.*746T>G (n.*746T>G) c.867T>G (p.Gly289=) c.750T>G (p.Gly250=) | |
| 8 | g.27463099A>G | CA460046689 | CHRNA2 | c.1344T>C (p.Gly448=) c.1299T>C (p.Gly433=) n.290-1345T>C c.1278T>C (p.Gly426=) c.*746T>C (n.*746T>C) c.867T>C (p.Gly289=) c.750T>C (p.Gly250=) | |
| 8 | g.27463099A>T | CA460046690 | CHRNA2 | c.1344T>A (p.Gly448=) c.1299T>A (p.Gly433=) n.290-1345T>A c.1278T>A (p.Gly426=) c.*746T>A (n.*746T>A) c.867T>A (p.Gly289=) c.750T>A (p.Gly250=) | |
| 8 | g.27463100C>A | CA370808854 | CHRNA2 | c.1343G>T (p.Gly448Val) c.1298G>T (p.Gly433Val) n.290-1346G>T c.1277G>T (p.Gly426Val) c.*745G>T (n.*745G>T) c.866G>T (p.Gly289Val) c.749G>T (p.Gly250Val) | gnomAD v4 |
| 8 | g.27463100C= | CA1772813407 | CHRNA2 | c.1343G= (p.Gly448=) c.1298G= (p.Gly433=) n.290-1346G= c.1277G= (p.Gly426=) c.*745G= (n.*745G=) c.866G= (p.Gly289=) c.749G= (p.Gly250=) | |
| 8 | g.27463100C>G | CA370808853 | CHRNA2 | c.1343G>C (p.Gly448Ala) c.1298G>C (p.Gly433Ala) n.290-1346G>C c.1277G>C (p.Gly426Ala) c.*745G>C (n.*745G>C) c.866G>C (p.Gly289Ala) c.749G>C (p.Gly250Ala) | |
| 8 | g.27463100C>T | CA4689476 | CHRNA2 | c.1343G>A (p.Gly448Asp) c.1298G>A (p.Gly433Asp) n.290-1346G>A c.1277G>A (p.Gly426Asp) c.*745G>A (n.*745G>A) c.866G>A (p.Gly289Asp) c.749G>A (p.Gly250Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463101C>A | CA370808855 | CHRNA2 | c.1342G>T (p.Gly448Cys) c.1297G>T (p.Gly433Cys) n.290-1347G>T c.1276G>T (p.Gly426Cys) c.*744G>T (n.*744G>T) c.865G>T (p.Gly289Cys) c.748G>T (p.Gly250Cys) | |
| 8 | g.27463101C>G | CA370808856 | CHRNA2 | c.1342G>C (p.Gly448Arg) c.1297G>C (p.Gly433Arg) n.290-1347G>C c.1276G>C (p.Gly426Arg) c.*744G>C (n.*744G>C) c.865G>C (p.Gly289Arg) c.748G>C (p.Gly250Arg) | |
| 8 | g.27463101C>T | CA370808857 | CHRNA2 | c.1342G>A (p.Gly448Ser) c.1297G>A (p.Gly433Ser) n.290-1347G>A c.1276G>A (p.Gly426Ser) c.*744G>A (n.*744G>A) c.865G>A (p.Gly289Ser) c.748G>A (p.Gly250Ser) | |
| 8 | g.27463102T>A | CA460186023 | CHRNA2 | c.1341A>T (p.Ser447=) c.1296A>T (p.Ser432=) n.290-1348A>T c.1275A>T (p.Ser425=) c.*743A>T (n.*743A>T) c.864A>T (p.Ser288=) c.747A>T (p.Ser249=) | |
| 8 | g.27463102T>C | CA460186024 | CHRNA2 | c.1341A>G (p.Ser447=) c.1296A>G (p.Ser432=) n.290-1348A>G c.1275A>G (p.Ser425=) c.*743A>G (n.*743A>G) c.864A>G (p.Ser288=) c.747A>G (p.Ser249=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463102T>G | CA460186025 | CHRNA2 | c.1341A>C (p.Ser447=) c.1296A>C (p.Ser432=) n.290-1348A>C c.1275A>C (p.Ser425=) c.*743A>C (n.*743A>C) c.864A>C (p.Ser288=) c.747A>C (p.Ser249=) | |
| 8 | g.27463102T= | CA1772813410 | CHRNA2 | c.1341A= (p.Ser447=) c.1296A= (p.Ser432=) n.290-1348A= c.1275A= (p.Ser425=) c.*743A= (n.*743A=) c.864A= (p.Ser288=) c.747A= (p.Ser249=) | |
| 8 | g.27463103G>A | CA370808858 | CHRNA2 | c.1340C>T (p.Ser447Leu) c.1295C>T (p.Ser432Leu) n.290-1349C>T c.1274C>T (p.Ser425Leu) c.*742C>T (n.*742C>T) c.863C>T (p.Ser288Leu) c.746C>T (p.Ser249Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463103G>C | CA370808859 | CHRNA2 | c.1340C>G (p.Ser447Ter) c.1295C>G (p.Ser432Ter) n.290-1349C>G c.1274C>G (p.Ser425Ter) c.*742C>G (n.*742C>G) c.863C>G (p.Ser288Ter) c.746C>G (p.Ser249Ter) | |
| 8 | g.27463103G= | CA1772813412 | CHRNA2 | c.1340C= (p.Ser447=) c.1295C= (p.Ser432=) n.290-1349C= c.1274C= (p.Ser425=) c.*742C= (n.*742C=) c.863C= (p.Ser288=) c.746C= (p.Ser249=) | |
| 8 | g.27463103G>T | CA370808860 | CHRNA2 | c.1340C>A (p.Ser447Ter) c.1295C>A (p.Ser432Ter) n.290-1349C>A c.1274C>A (p.Ser425Ter) c.*742C>A (n.*742C>A) c.863C>A (p.Ser288Ter) c.746C>A (p.Ser249Ter) | |
| 8 | g.27463104A>C | CA370808861 | CHRNA2 | c.1339T>G (p.Ser447Ala) c.1294T>G (p.Ser432Ala) n.290-1350T>G c.1273T>G (p.Ser425Ala) c.*741T>G (n.*741T>G) c.862T>G (p.Ser288Ala) c.745T>G (p.Ser249Ala) | |
| 8 | g.27463104A>G | CA370808862 | CHRNA2 | c.1339T>C (p.Ser447Pro) c.1294T>C (p.Ser432Pro) n.290-1350T>C c.1273T>C (p.Ser425Pro) c.*741T>C (n.*741T>C) c.862T>C (p.Ser288Pro) c.745T>C (p.Ser249Pro) | |
| 8 | g.27463104A>T | CA370808863 | CHRNA2 | c.1339T>A (p.Ser447Thr) c.1294T>A (p.Ser432Thr) n.290-1350T>A c.1273T>A (p.Ser425Thr) c.*741T>A (n.*741T>A) c.862T>A (p.Ser288Thr) c.745T>A (p.Ser249Thr) | |
| 8 | g.27463105G>A | CA460186026 | CHRNA2 | c.1338C>T (p.Ala446=) c.1293C>T (p.Ala431=) n.290-1351C>T c.1272C>T (p.Ala424=) c.*740C>T (n.*740C>T) c.861C>T (p.Ala287=) c.744C>T (p.Ala248=) | gnomAD v4 |
| 8 | g.27463105G>C | CA460186027 | CHRNA2 | c.1338C>G (p.Ala446=) c.1293C>G (p.Ala431=) n.290-1351C>G c.1272C>G (p.Ala424=) c.*740C>G (n.*740C>G) c.861C>G (p.Ala287=) c.744C>G (p.Ala248=) | |
| 8 | g.27463105G>T | CA460186028 | CHRNA2 | c.1338C>A (p.Ala446=) c.1293C>A (p.Ala431=) n.290-1351C>A c.1272C>A (p.Ala424=) c.*740C>A (n.*740C>A) c.861C>A (p.Ala287=) c.744C>A (p.Ala248=) | |
| 8 | g.27463106G>A | CA370808864 | CHRNA2 | c.1337C>T (p.Ala446Val) c.1292C>T (p.Ala431Val) n.290-1352C>T c.1271C>T (p.Ala424Val) c.*739C>T (n.*739C>T) c.860C>T (p.Ala287Val) c.743C>T (p.Ala248Val) | |
| 8 | g.27463106G>C | CA370808865 | CHRNA2 | c.1337C>G (p.Ala446Gly) c.1292C>G (p.Ala431Gly) n.290-1352C>G c.1271C>G (p.Ala424Gly) c.*739C>G (n.*739C>G) c.860C>G (p.Ala287Gly) c.743C>G (p.Ala248Gly) | |
| 8 | g.27463106G>T | CA370808866 | CHRNA2 | c.1337C>A (p.Ala446Asp) c.1292C>A (p.Ala431Asp) n.290-1352C>A c.1271C>A (p.Ala424Asp) c.*739C>A (n.*739C>A) c.860C>A (p.Ala287Asp) c.743C>A (p.Ala248Asp) | |
| 8 | g.27463107C>A | CA370808867 | CHRNA2 | c.1336G>T (p.Ala446Ser) c.1291G>T (p.Ala431Ser) n.290-1353G>T c.1270G>T (p.Ala424Ser) c.*738G>T (n.*738G>T) c.859G>T (p.Ala287Ser) c.742G>T (p.Ala248Ser) | |
| 8 | g.27463107C>G | CA370808869 | CHRNA2 | c.1336G>C (p.Ala446Pro) c.1291G>C (p.Ala431Pro) n.290-1353G>C c.1270G>C (p.Ala424Pro) c.*738G>C (n.*738G>C) c.859G>C (p.Ala287Pro) c.742G>C (p.Ala248Pro) | |
| 8 | g.27463107C>T | CA370808868 | CHRNA2 | c.1336G>A (p.Ala446Thr) c.1291G>A (p.Ala431Thr) n.290-1353G>A c.1270G>A (p.Ala424Thr) c.*738G>A (n.*738G>A) c.859G>A (p.Ala287Thr) c.742G>A (p.Ala248Thr) | |
| 8 | g.27463108C>A | CA460186029 | CHRNA2 | c.1335G>T (p.Gly445=) c.1290G>T (p.Gly430=) n.290-1354G>T c.1269G>T (p.Gly423=) c.*737G>T (n.*737G>T) c.858G>T (p.Gly286=) c.741G>T (p.Gly247=) | gnomAD v4 |
| 8 | g.27463108C= | CA1772813415 | CHRNA2 | c.1335G= (p.Gly445=) c.1290G= (p.Gly430=) n.290-1354G= c.1269G= (p.Gly423=) c.*737G= (n.*737G=) c.858G= (p.Gly286=) c.741G= (p.Gly247=) | |
| 8 | g.27463108C>G | CA313421 | CHRNA2 | c.1335G>C (p.Gly445=) c.1290G>C (p.Gly430=) n.290-1354G>C c.1269G>C (p.Gly423=) c.*737G>C (n.*737G>C) c.858G>C (p.Gly286=) c.741G>C (p.Gly247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463108C>T | CA460186030 | CHRNA2 | c.1335G>A (p.Gly445=) c.1290G>A (p.Gly430=) n.290-1354G>A c.1269G>A (p.Gly423=) c.*737G>A (n.*737G>A) c.858G>A (p.Gly286=) c.741G>A (p.Gly247=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463109C>A | CA370808870 | CHRNA2 | c.1334G>T (p.Gly445Val) c.1289G>T (p.Gly430Val) n.290-1355G>T c.1268G>T (p.Gly423Val) c.*736G>T (n.*736G>T) c.857G>T (p.Gly286Val) c.740G>T (p.Gly247Val) | COSMIC |
| 8 | g.27463109C= | CA1772813421 | CHRNA2 | c.1334G= (p.Gly445=) c.1289G= (p.Gly430=) n.290-1355G= c.1268G= (p.Gly423=) c.*736G= (n.*736G=) c.857G= (p.Gly286=) c.740G= (p.Gly247=) | |
| 8 | g.27463109C>G | CA4689477 | CHRNA2 | c.1334G>C (p.Gly445Ala) c.1289G>C (p.Gly430Ala) n.290-1355G>C c.1268G>C (p.Gly423Ala) c.*736G>C (n.*736G>C) c.857G>C (p.Gly286Ala) c.740G>C (p.Gly247Ala) | dbSNP ExAC gnomAD v2 |
| 8 | g.27463109C>T | CA174241182 | CHRNA2 | c.1334G>A (p.Gly445Glu) c.1289G>A (p.Gly430Glu) n.290-1355G>A c.1268G>A (p.Gly423Glu) c.*736G>A (n.*736G>A) c.857G>A (p.Gly286Glu) c.740G>A (p.Gly247Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463110C>A | CA370808871 | CHRNA2 | c.1333G>T (p.Gly445Trp) c.1288G>T (p.Gly430Trp) n.290-1356G>T c.1267G>T (p.Gly423Trp) c.*735G>T (n.*735G>T) c.856G>T (p.Gly286Trp) c.739G>T (p.Gly247Trp) | |
| 8 | g.27463110C>G | CA370808872 | CHRNA2 | c.1333G>C (p.Gly445Arg) c.1288G>C (p.Gly430Arg) n.290-1356G>C c.1267G>C (p.Gly423Arg) c.*735G>C (n.*735G>C) c.856G>C (p.Gly286Arg) c.739G>C (p.Gly247Arg) | |
| 8 | g.27463110C>T | CA370808873 | CHRNA2 | c.1333G>A (p.Gly445Arg) c.1288G>A (p.Gly430Arg) n.290-1356G>A c.1267G>A (p.Gly423Arg) c.*735G>A (n.*735G>A) c.856G>A (p.Gly286Arg) c.739G>A (p.Gly247Arg) | |
| 8 | g.27463111A= | CA1772813428 | CHRNA2 | c.1332T= (p.Ser444=) c.1287T= (p.Ser429=) n.290-1357T= c.1266T= (p.Ser422=) c.*734T= (n.*734T=) c.855T= (p.Ser285=) c.738T= (p.Ser246=) | |
| 8 | g.27463111A>C | CA460186034 | CHRNA2 | c.1332T>G (p.Ser444=) c.1287T>G (p.Ser429=) n.290-1357T>G c.1266T>G (p.Ser422=) c.*734T>G (n.*734T>G) c.855T>G (p.Ser285=) c.738T>G (p.Ser246=) | |
| 8 | g.27463111A>G | CA460186033 | CHRNA2 | c.1332T>C (p.Ser444=) c.1287T>C (p.Ser429=) n.290-1357T>C c.1266T>C (p.Ser422=) c.*734T>C (n.*734T>C) c.855T>C (p.Ser285=) c.738T>C (p.Ser246=) | |
| 8 | g.27463111A>T | CA174241193 | CHRNA2 | c.1332T>A (p.Ser444=) c.1287T>A (p.Ser429=) n.290-1357T>A c.1266T>A (p.Ser422=) c.*734T>A (n.*734T>A) c.855T>A (p.Ser285=) c.738T>A (p.Ser246=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463112G>A | CA370808874 | CHRNA2 | c.1331C>T (p.Ser444Phe) c.1286C>T (p.Ser429Phe) n.290-1358C>T c.1265C>T (p.Ser422Phe) c.*733C>T (n.*733C>T) c.854C>T (p.Ser285Phe) c.737C>T (p.Ser246Phe) | |
| 8 | g.27463112G>C | CA4689478 | CHRNA2 | c.1331C>G (p.Ser444Cys) c.1286C>G (p.Ser429Cys) n.290-1358C>G c.1265C>G (p.Ser422Cys) c.*733C>G (n.*733C>G) c.854C>G (p.Ser285Cys) c.737C>G (p.Ser246Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463112G= | CA1772813432 | CHRNA2 | c.1331C= (p.Ser444=) c.1286C= (p.Ser429=) n.290-1358C= c.1265C= (p.Ser422=) c.*733C= (n.*733C=) c.854C= (p.Ser285=) c.737C= (p.Ser246=) | |
| 8 | g.27463112G>T | CA370808875 | CHRNA2 | c.1331C>A (p.Ser444Tyr) c.1286C>A (p.Ser429Tyr) n.290-1358C>A c.1265C>A (p.Ser422Tyr) c.*733C>A (n.*733C>A) c.854C>A (p.Ser285Tyr) c.737C>A (p.Ser246Tyr) | |
| 8 | g.27463113A>C | CA370808878 | CHRNA2 | c.1330T>G (p.Ser444Ala) c.1285T>G (p.Ser429Ala) n.290-1359T>G c.1264T>G (p.Ser422Ala) c.*732T>G (n.*732T>G) c.853T>G (p.Ser285Ala) c.736T>G (p.Ser246Ala) | |
| 8 | g.27463113A>G | CA370808877 | CHRNA2 | c.1330T>C (p.Ser444Pro) c.1285T>C (p.Ser429Pro) n.290-1359T>C c.1264T>C (p.Ser422Pro) c.*732T>C (n.*732T>C) c.853T>C (p.Ser285Pro) c.736T>C (p.Ser246Pro) | ClinVar dbSNP |
| 8 | g.27463113A>T | CA370808876 | CHRNA2 | c.1330T>A (p.Ser444Thr) c.1285T>A (p.Ser429Thr) n.290-1359T>A c.1264T>A (p.Ser422Thr) c.*732T>A (n.*732T>A) c.853T>A (p.Ser285Thr) c.736T>A (p.Ser246Thr) | |
| 8 | g.27463114G>A | CA460186035 | CHRNA2 | c.1329C>T (p.His443=) c.1284C>T (p.His428=) n.290-1360C>T c.1263C>T (p.His421=) c.*731C>T (n.*731C>T) c.852C>T (p.His284=) c.735C>T (p.His245=) | |
| 8 | g.27463114G>C | CA370808879 | CHRNA2 | c.1329C>G (p.His443Gln) c.1284C>G (p.His428Gln) n.290-1360C>G c.1263C>G (p.His421Gln) c.*731C>G (n.*731C>G) c.852C>G (p.His284Gln) c.735C>G (p.His245Gln) | |
| 8 | g.27463114G>T | CA370808880 | CHRNA2 | c.1329C>A (p.His443Gln) c.1284C>A (p.His428Gln) n.290-1360C>A c.1263C>A (p.His421Gln) c.*731C>A (n.*731C>A) c.852C>A (p.His284Gln) c.735C>A (p.His245Gln) | |
| 8 | g.27463115T>A | CA370808881 | CHRNA2 | c.1328A>T (p.His443Leu) c.1283A>T (p.His428Leu) n.290-1361A>T c.1262A>T (p.His421Leu) c.*730A>T (n.*730A>T) c.851A>T (p.His284Leu) c.734A>T (p.His245Leu) | |
| 8 | g.27463115T>C | CA370808882 | CHRNA2 | c.1328A>G (p.His443Arg) c.1283A>G (p.His428Arg) n.290-1361A>G c.1262A>G (p.His421Arg) c.*730A>G (n.*730A>G) c.851A>G (p.His284Arg) c.734A>G (p.His245Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463115T>G | CA370808883 | CHRNA2 | c.1328A>C (p.His443Pro) c.1283A>C (p.His428Pro) n.290-1361A>C c.1262A>C (p.His421Pro) c.*730A>C (n.*730A>C) c.851A>C (p.His284Pro) c.734A>C (p.His245Pro) | |
| 8 | g.27463115T= | CA1772813439 | CHRNA2 | c.1328A= (p.His443=) c.1283A= (p.His428=) n.290-1361A= c.1262A= (p.His421=) c.*730A= (n.*730A=) c.851A= (p.His284=) c.734A= (p.His245=) | |
| 8 | g.27463115_27463116delinsTG | CA1772813437 | CHRNA2 | c.1327_1328delinsCA (p.His443=) c.1282_1283delinsCA (p.His428=) n.290-1362_290-1361delinsCA c.1261_1262delinsCA (p.His421=) c.*729_*730delinsCA (n.*729_*730delinsCA) c.850_851delinsCA (p.His284=) c.733_734delinsCA (p.His245=) | |
| 8 | g.27463116del | CA4689479 | CHRNA2 | c.1327del (p.His443ThrfsTer?) c.1282del (p.His428ThrfsTer?) n.290-1362del c.1261del (p.His421ThrfsTer?) c.*729del (n.*729del) c.850del (p.His284ThrfsTer?) c.733del (p.His245ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463116G>A | CA370808884 | CHRNA2 | c.1327C>T (p.His443Tyr) c.1282C>T (p.His428Tyr) n.290-1362C>T c.1261C>T (p.His421Tyr) c.*729C>T (n.*729C>T) c.850C>T (p.His284Tyr) c.733C>T (p.His245Tyr) | dbSNP gnomAD v4 |
| 8 | g.27463116G>C | CA370808885 | CHRNA2 | c.1327C>G (p.His443Asp) c.1282C>G (p.His428Asp) n.290-1362C>G c.1261C>G (p.His421Asp) c.*729C>G (n.*729C>G) c.850C>G (p.His284Asp) c.733C>G (p.His245Asp) | |
| 8 | g.27463116G= | CA1772813442 | CHRNA2 | c.1327C= (p.His443=) c.1282C= (p.His428=) n.290-1362C= c.1261C= (p.His421=) c.*729C= (n.*729C=) c.850C= (p.His284=) c.733C= (p.His245=) | |
| 8 | g.27463116G>T | CA370808886 | CHRNA2 | c.1327C>A (p.His443Asn) c.1282C>A (p.His428Asn) n.290-1362C>A c.1261C>A (p.His421Asn) c.*729C>A (n.*729C>A) c.850C>A (p.His284Asn) c.733C>A (p.His245Asn) | gnomAD v4 |
| 8 | g.27463117C>A | CA460186036 | CHRNA2 | c.1326G>T (p.Leu442=) c.1281G>T (p.Leu427=) n.290-1363G>T c.1260G>T (p.Leu420=) c.*728G>T (n.*728G>T) c.849G>T (p.Leu283=) c.732G>T (p.Leu244=) | |
| 8 | g.27463117C>G | CA460186037 | CHRNA2 | c.1326G>C (p.Leu442=) c.1281G>C (p.Leu427=) n.290-1363G>C c.1260G>C (p.Leu420=) c.*728G>C (n.*728G>C) c.849G>C (p.Leu283=) c.732G>C (p.Leu244=) | |
| 8 | g.27463117C>T | CA460186038 | CHRNA2 | c.1326G>A (p.Leu442=) c.1281G>A (p.Leu427=) n.290-1363G>A c.1260G>A (p.Leu420=) c.*728G>A (n.*728G>A) c.849G>A (p.Leu283=) c.732G>A (p.Leu244=) | gnomAD v4 |
| 8 | g.27463118del | CA2579127522 | CHRNA2 | c.1325del (p.Leu442ArgfsTer?) c.1280del (p.Leu427ArgfsTer?) n.290-1364del c.1259del (p.Leu420ArgfsTer?) c.*727del (n.*727del) c.848del (p.Leu283ArgfsTer?) c.731del (p.Leu244ArgfsTer?) | |
| 8 | g.27463118A>C | CA370808887 | CHRNA2 | c.1325T>G (p.Leu442Arg) c.1280T>G (p.Leu427Arg) n.290-1364T>G c.1259T>G (p.Leu420Arg) c.*727T>G (n.*727T>G) c.848T>G (p.Leu283Arg) c.731T>G (p.Leu244Arg) | |
| 8 | g.27463118A>G | CA370808888 | CHRNA2 | c.1325T>C (p.Leu442Pro) c.1280T>C (p.Leu427Pro) n.290-1364T>C c.1259T>C (p.Leu420Pro) c.*727T>C (n.*727T>C) c.848T>C (p.Leu283Pro) c.731T>C (p.Leu244Pro) | |
| 8 | g.27463118A>T | CA370808889 | CHRNA2 | c.1325T>A (p.Leu442Gln) c.1280T>A (p.Leu427Gln) n.290-1364T>A c.1259T>A (p.Leu420Gln) c.*727T>A (n.*727T>A) c.848T>A (p.Leu283Gln) c.731T>A (p.Leu244Gln) | |
| 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) |