| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463173C>A | CA370809002 | CHRNA2 | c.1270G>T (p.Ala424Ser) c.1225G>T (p.Ala409Ser) n.290-1419G>T c.1204G>T (p.Ala402Ser) c.*672G>T (n.*672G>T) c.793G>T (p.Ala265Ser) c.676G>T (p.Ala226Ser) | ClinVar gnomAD v4 |
| 8 | g.27463173C= | CA1772813535 | CHRNA2 | c.1270G= (p.Ala424=) c.1225G= (p.Ala409=) n.290-1419G= c.1204G= (p.Ala402=) c.*672G= (n.*672G=) c.793G= (p.Ala265=) c.676G= (p.Ala226=) | |
| 8 | g.27463173C>G | CA370809003 | CHRNA2 | c.1270G>C (p.Ala424Pro) c.1225G>C (p.Ala409Pro) n.290-1419G>C c.1204G>C (p.Ala402Pro) c.*672G>C (n.*672G>C) c.793G>C (p.Ala265Pro) c.676G>C (p.Ala226Pro) | |
| 8 | g.27463173C>T | CA4689488 | CHRNA2 | c.1270G>A (p.Ala424Thr) c.1225G>A (p.Ala409Thr) n.290-1419G>A c.1204G>A (p.Ala402Thr) c.*672G>A (n.*672G>A) c.793G>A (p.Ala265Thr) c.676G>A (p.Ala226Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463174C>A | CA370809004 | CHRNA2 | c.1269G>T (p.Trp423Cys) c.1224G>T (p.Trp408Cys) n.290-1420G>T c.1203G>T (p.Trp401Cys) c.*671G>T (n.*671G>T) c.792G>T (p.Trp264Cys) c.675G>T (p.Trp225Cys) | gnomAD v4 |
| 8 | g.27463174C>G | CA370809005 | CHRNA2 | c.1269G>C (p.Trp423Cys) c.1224G>C (p.Trp408Cys) n.290-1420G>C c.1203G>C (p.Trp401Cys) c.*671G>C (n.*671G>C) c.792G>C (p.Trp264Cys) c.675G>C (p.Trp225Cys) | |
| 8 | g.27463174C>T | CA370809006 | CHRNA2 | c.1269G>A (p.Trp423Ter) c.1224G>A (p.Trp408Ter) n.290-1420G>A c.1203G>A (p.Trp401Ter) c.*671G>A (n.*671G>A) c.792G>A (p.Trp264Ter) c.675G>A (p.Trp225Ter) | gnomAD v4 |
| 8 | g.27463175C>A | CA370809009 | CHRNA2 | c.1268G>T (p.Trp423Leu) c.1223G>T (p.Trp408Leu) n.290-1421G>T c.1202G>T (p.Trp401Leu) c.*670G>T (n.*670G>T) c.791G>T (p.Trp264Leu) c.674G>T (p.Trp225Leu) | |
| 8 | g.27463175C>G | CA370809008 | CHRNA2 | c.1268G>C (p.Trp423Ser) c.1223G>C (p.Trp408Ser) n.290-1421G>C c.1202G>C (p.Trp401Ser) c.*670G>C (n.*670G>C) c.791G>C (p.Trp264Ser) c.674G>C (p.Trp225Ser) | |
| 8 | g.27463175C>T | CA370809007 | CHRNA2 | c.1268G>A (p.Trp423Ter) c.1223G>A (p.Trp408Ter) n.290-1421G>A c.1202G>A (p.Trp401Ter) c.*670G>A (n.*670G>A) c.791G>A (p.Trp264Ter) c.674G>A (p.Trp225Ter) | |
| 8 | g.27463176A= | CA1772813540 | CHRNA2 | c.1267T= (p.Trp423=) c.1222T= (p.Trp408=) n.290-1422T= c.1201T= (p.Trp401=) c.*669T= (n.*669T=) c.790T= (p.Trp264=) c.673T= (p.Trp225=) | |
| 8 | g.27463176A>C | CA370809010 | CHRNA2 | c.1267T>G (p.Trp423Gly) c.1222T>G (p.Trp408Gly) n.290-1422T>G c.1201T>G (p.Trp401Gly) c.*669T>G (n.*669T>G) c.790T>G (p.Trp264Gly) c.673T>G (p.Trp225Gly) | |
| 8 | g.27463176A>G | CA370809011 | CHRNA2 | c.1267T>C (p.Trp423Arg) c.1222T>C (p.Trp408Arg) n.290-1422T>C c.1201T>C (p.Trp401Arg) c.*669T>C (n.*669T>C) c.790T>C (p.Trp264Arg) c.673T>C (p.Trp225Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463176A>T | CA370809012 | CHRNA2 | c.1267T>A (p.Trp423Arg) c.1222T>A (p.Trp408Arg) n.290-1422T>A c.1201T>A (p.Trp401Arg) c.*669T>A (n.*669T>A) c.790T>A (p.Trp264Arg) c.673T>A (p.Trp225Arg) | gnomAD v4 |
| 8 | g.27463177T>A | CA370809013 | CHRNA2 | c.1266A>T (p.Arg422Ser) c.1221A>T (p.Arg407Ser) n.290-1423A>T c.1200A>T (p.Arg400Ser) c.*668A>T (n.*668A>T) c.789A>T (p.Arg263Ser) c.672A>T (p.Arg224Ser) | ClinVar dbSNP |
| 8 | g.27463177T>C | CA460186115 | CHRNA2 | c.1266A>G (p.Arg422=) c.1221A>G (p.Arg407=) n.290-1423A>G c.1200A>G (p.Arg400=) c.*668A>G (n.*668A>G) c.789A>G (p.Arg263=) c.672A>G (p.Arg224=) | |
| 8 | g.27463177T>G | CA370809014 | CHRNA2 | c.1266A>C (p.Arg422Ser) c.1221A>C (p.Arg407Ser) n.290-1423A>C c.1200A>C (p.Arg400Ser) c.*668A>C (n.*668A>C) c.789A>C (p.Arg263Ser) c.672A>C (p.Arg224Ser) | |
| 8 | g.27463178C>A | CA370809015 | CHRNA2 | c.1265G>T (p.Arg422Ile) c.1220G>T (p.Arg407Ile) n.290-1424G>T c.1199G>T (p.Arg400Ile) c.*667G>T (n.*667G>T) c.788G>T (p.Arg263Ile) c.671G>T (p.Arg224Ile) | |
| 8 | g.27463178C= | CA1772813546 | CHRNA2 | c.1265G= (p.Arg422=) c.1220G= (p.Arg407=) n.290-1424G= c.1199G= (p.Arg400=) c.*667G= (n.*667G=) c.788G= (p.Arg263=) c.671G= (p.Arg224=) | |
| 8 | g.27463178C>G | CA4689489 | CHRNA2 | c.1265G>C (p.Arg422Thr) c.1220G>C (p.Arg407Thr) n.290-1424G>C c.1199G>C (p.Arg400Thr) c.*667G>C (n.*667G>C) c.788G>C (p.Arg263Thr) c.671G>C (p.Arg224Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463178C>T | CA370809016 | CHRNA2 | c.1265G>A (p.Arg422Lys) c.1220G>A (p.Arg407Lys) n.290-1424G>A c.1199G>A (p.Arg400Lys) c.*667G>A (n.*667G>A) c.788G>A (p.Arg263Lys) c.671G>A (p.Arg224Lys) | |
| 8 | g.27463179T>A | CA370809017 | CHRNA2 | c.1264A>T (p.Arg422Ter) c.1219A>T (p.Arg407Ter) n.290-1425A>T c.1198A>T (p.Arg400Ter) c.*666A>T (n.*666A>T) c.787A>T (p.Arg263Ter) c.670A>T (p.Arg224Ter) | |
| 8 | g.27463179T>C | CA370809018 | CHRNA2 | c.1264A>G (p.Arg422Gly) c.1219A>G (p.Arg407Gly) n.290-1425A>G c.1198A>G (p.Arg400Gly) c.*666A>G (n.*666A>G) c.787A>G (p.Arg263Gly) c.670A>G (p.Arg224Gly) | ClinVar dbSNP |
| 8 | g.27463179T>G | CA460186117 | CHRNA2 | c.1264A>C (p.Arg422=) c.1219A>C (p.Arg407=) n.290-1425A>C c.1198A>C (p.Arg400=) c.*666A>C (n.*666A>C) c.787A>C (p.Arg263=) c.670A>C (p.Arg224=) | |
| 8 | g.27463179T= | CA1772813550 | CHRNA2 | c.1264A= (p.Arg422=) c.1219A= (p.Arg407=) n.290-1425A= c.1198A= (p.Arg400=) c.*666A= (n.*666A=) c.787A= (p.Arg263=) c.670A= (p.Arg224=) | |
| 8 | g.27463180G>A | CA460186118 | CHRNA2 | c.1263C>T (p.Asp421=) c.1218C>T (p.Asp406=) n.290-1426C>T c.1197C>T (p.Asp399=) c.*665C>T (n.*665C>T) c.786C>T (p.Asp262=) c.669C>T (p.Asp223=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463180G>C | CA370809019 | CHRNA2 | c.1263C>G (p.Asp421Glu) c.1218C>G (p.Asp406Glu) n.290-1426C>G c.1197C>G (p.Asp399Glu) c.*665C>G (n.*665C>G) c.786C>G (p.Asp262Glu) c.669C>G (p.Asp223Glu) | |
| 8 | g.27463180G>T | CA370809020 | CHRNA2 | c.1263C>A (p.Asp421Glu) c.1218C>A (p.Asp406Glu) n.290-1426C>A c.1197C>A (p.Asp399Glu) c.*665C>A (n.*665C>A) c.786C>A (p.Asp262Glu) c.669C>A (p.Asp223Glu) | |
| 8 | g.27463180_27463183delinsGTCC | CA1772813553 | CHRNA2 | c.1260_1263delinsGGAC (p.Glu420=) c.1215_1218delinsGGAC (p.Glu405=) n.290-1429_290-1426delinsGGAC c.1194_1197delinsGGAC (p.Glu398=) c.*662_*665delinsGGAC (n.*662_*665delinsGGAC) c.783_786delinsGGAC (p.Glu261=) c.666_669delinsGGAC (p.Glu222=) | |
| 8 | g.27463181T>A | CA370809021 | CHRNA2 | c.1262A>T (p.Asp421Val) c.1217A>T (p.Asp406Val) n.290-1427A>T c.1196A>T (p.Asp399Val) c.*664A>T (n.*664A>T) c.785A>T (p.Asp262Val) c.668A>T (p.Asp223Val) | |
| 8 | g.27463181T>C | CA16618620 | CHRNA2 | c.1262A>G (p.Asp421Gly) c.1217A>G (p.Asp406Gly) n.290-1427A>G c.1196A>G (p.Asp399Gly) c.*664A>G (n.*664A>G) c.785A>G (p.Asp262Gly) c.668A>G (p.Asp223Gly) | ClinVar dbSNP |
| 8 | g.27463181T>G | CA370809022 | CHRNA2 | c.1262A>C (p.Asp421Ala) c.1217A>C (p.Asp406Ala) n.290-1427A>C c.1196A>C (p.Asp399Ala) c.*664A>C (n.*664A>C) c.785A>C (p.Asp262Ala) c.668A>C (p.Asp223Ala) | |
| 8 | g.27463181T= | CA1772813555 | CHRNA2 | c.1262A= (p.Asp421=) c.1217A= (p.Asp406=) n.290-1427A= c.1196A= (p.Asp399=) c.*664A= (n.*664A=) c.785A= (p.Asp262=) c.668A= (p.Asp223=) | |
| 8 | g.27463190_27463192del | CA580954916 | CHRNA2 | c.1260_1262del (p.Glu420del) c.1215_1217del (p.Glu405del) n.290-1429_290-1427del c.1194_1196del (p.Glu398del) c.*662_*664del (n.*662_*664del) c.783_785del (p.Glu261del) c.666_668del (p.Glu222del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463182C>A | CA370809025 | CHRNA2 | c.1261G>T (p.Asp421Tyr) c.1216G>T (p.Asp406Tyr) n.290-1428G>T c.1195G>T (p.Asp399Tyr) c.*663G>T (n.*663G>T) c.784G>T (p.Asp262Tyr) c.667G>T (p.Asp223Tyr) | gnomAD v4 |
| 8 | g.27463182C= | CA1772813559 | CHRNA2 | c.1261G= (p.Asp421=) c.1216G= (p.Asp406=) n.290-1428G= c.1195G= (p.Asp399=) c.*663G= (n.*663G=) c.784G= (p.Asp262=) c.667G= (p.Asp223=) | |
| 8 | g.27463182C>G | CA370809023 | CHRNA2 | c.1261G>C (p.Asp421His) c.1216G>C (p.Asp406His) n.290-1428G>C c.1195G>C (p.Asp399His) c.*663G>C (n.*663G>C) c.784G>C (p.Asp262His) c.667G>C (p.Asp223His) | dbSNP gnomAD v4 |
| 8 | g.27463182C>T | CA370809024 | CHRNA2 | c.1261G>A (p.Asp421Asn) c.1216G>A (p.Asp406Asn) n.290-1428G>A c.1195G>A (p.Asp399Asn) c.*663G>A (n.*663G>A) c.784G>A (p.Asp262Asn) c.667G>A (p.Asp223Asn) | |
| 8 | g.27463182_27463183delinsGT | CA2580078093 | CHRNA2 | c.1260_1261delinsAC (p.Asp421His) c.1215_1216delinsAC (p.Asp406His) n.290-1429_290-1428delinsAC c.1194_1195delinsAC (p.Asp399His) c.*662_*663delinsAC (n.*662_*663delinsAC) c.783_784delinsAC (p.Asp262His) c.666_667delinsAC (p.Asp223His) | ClinVar |
| 8 | g.27463183del | CA645550781 | CHRNA2 | c.1261del (p.Asp421ThrfsTer?) c.1216del (p.Asp406ThrfsTer?) n.290-1428del c.1195del (p.Asp399ThrfsTer?) c.*663del (n.*663del) c.784del (p.Asp262ThrfsTer?) c.667del (p.Asp223ThrfsTer?) | COSMIC |
| 8 | g.27463183C>A | CA370809026 | CHRNA2 | c.1260G>T (p.Glu420Asp) c.1215G>T (p.Glu405Asp) n.290-1429G>T c.1194G>T (p.Glu398Asp) c.*662G>T (n.*662G>T) c.783G>T (p.Glu261Asp) c.666G>T (p.Glu222Asp) | |
| 8 | g.27463183C= | CA1772813564 | CHRNA2 | c.1260G= (p.Glu420=) c.1215G= (p.Glu405=) n.290-1429G= c.1194G= (p.Glu398=) c.*662G= (n.*662G=) c.783G= (p.Glu261=) c.666G= (p.Glu222=) | |
| 8 | g.27463183C>G | CA370809027 | CHRNA2 | c.1260G>C (p.Glu420Asp) c.1215G>C (p.Glu405Asp) n.290-1429G>C c.1194G>C (p.Glu398Asp) c.*662G>C (n.*662G>C) c.783G>C (p.Glu261Asp) c.666G>C (p.Glu222Asp) | |
| 8 | g.27463183C>T | CA16606051 | CHRNA2 | c.1260G>A (p.Glu420=) c.1215G>A (p.Glu405=) n.290-1429G>A c.1194G>A (p.Glu398=) c.*662G>A (n.*662G>A) c.783G>A (p.Glu261=) c.666G>A (p.Glu222=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463183_27463184delinsCT | CA1772813565 | CHRNA2 | c.1259_1260delinsAG (p.Glu420=) c.1214_1215delinsAG (p.Glu405=) n.290-1430_290-1429delinsAG c.1193_1194delinsAG (p.Glu398=) c.*661_*662delinsAG (n.*661_*662delinsAG) c.782_783delinsAG (p.Glu261=) c.665_666delinsAG (p.Glu222=) | |
| 8 | g.27463184del | CA850384191 | CHRNA2 | c.1259del (p.Glu420GlyfsTer?) c.1214del (p.Glu405GlyfsTer?) n.290-1430del c.1193del (p.Glu398GlyfsTer?) c.*661del (n.*661del) c.782del (p.Glu261GlyfsTer?) c.665del (p.Glu222GlyfsTer?) | ClinVar dbSNP |
| 8 | g.27463184T>A | CA370809028 | CHRNA2 | c.1259A>T (p.Glu420Val) c.1214A>T (p.Glu405Val) n.290-1430A>T c.1193A>T (p.Glu398Val) c.*661A>T (n.*661A>T) c.782A>T (p.Glu261Val) c.665A>T (p.Glu222Val) | |
| 8 | g.27463184T>C | CA370809029 | CHRNA2 | c.1259A>G (p.Glu420Gly) c.1214A>G (p.Glu405Gly) n.290-1430A>G c.1193A>G (p.Glu398Gly) c.*661A>G (n.*661A>G) c.782A>G (p.Glu261Gly) c.665A>G (p.Glu222Gly) | |
| 8 | g.27463184T>G | CA370809030 | CHRNA2 | c.1259A>C (p.Glu420Ala) c.1214A>C (p.Glu405Ala) n.290-1430A>C c.1193A>C (p.Glu398Ala) c.*661A>C (n.*661A>C) c.782A>C (p.Glu261Ala) c.665A>C (p.Glu222Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463184T= | CA1772813570 | CHRNA2 | c.1259A= (p.Glu420=) c.1214A= (p.Glu405=) n.290-1430A= c.1193A= (p.Glu398=) c.*661A= (n.*661A=) c.782A= (p.Glu261=) c.665A= (p.Glu222=) | |
| 8 | g.27463185C>A | CA370809031 | CHRNA2 | c.1258G>T (p.Glu420Ter) c.1213G>T (p.Glu405Ter) n.290-1431G>T c.1192G>T (p.Glu398Ter) c.*660G>T (n.*660G>T) c.781G>T (p.Glu261Ter) c.664G>T (p.Glu222Ter) | |
| 8 | g.27463185C>G | CA370809032 | CHRNA2 | c.1258G>C (p.Glu420Gln) c.1213G>C (p.Glu405Gln) n.290-1431G>C c.1192G>C (p.Glu398Gln) c.*660G>C (n.*660G>C) c.781G>C (p.Glu261Gln) c.664G>C (p.Glu222Gln) | |
| 8 | g.27463185C>T | CA370809033 | CHRNA2 | c.1258G>A (p.Glu420Lys) c.1213G>A (p.Glu405Lys) n.290-1431G>A c.1192G>A (p.Glu398Lys) c.*660G>A (n.*660G>A) c.781G>A (p.Glu261Lys) c.664G>A (p.Glu222Lys) | gnomAD v4 COSMIC |
| 8 | g.27463186C>A | CA370809034 | CHRNA2 | c.1257G>T (p.Glu419Asp) c.1212G>T (p.Glu404Asp) n.290-1432G>T c.1191G>T (p.Glu397Asp) c.*659G>T (n.*659G>T) c.780G>T (p.Glu260Asp) c.663G>T (p.Glu221Asp) | |
| 8 | g.27463186C>G | CA370809035 | CHRNA2 | c.1257G>C (p.Glu419Asp) c.1212G>C (p.Glu404Asp) n.290-1432G>C c.1191G>C (p.Glu397Asp) c.*659G>C (n.*659G>C) c.780G>C (p.Glu260Asp) c.663G>C (p.Glu221Asp) | |
| 8 | g.27463186C>T | CA460186128 | CHRNA2 | c.1257G>A (p.Glu419=) c.1212G>A (p.Glu404=) n.290-1432G>A c.1191G>A (p.Glu397=) c.*659G>A (n.*659G>A) c.780G>A (p.Glu260=) c.663G>A (p.Glu221=) | ClinVar dbSNP |
| 8 | g.27463187T>A | CA370809036 | CHRNA2 | c.1256A>T (p.Glu419Val) c.1211A>T (p.Glu404Val) n.290-1433A>T c.1190A>T (p.Glu397Val) c.*658A>T (n.*658A>T) c.779A>T (p.Glu260Val) c.662A>T (p.Glu221Val) | |
| 8 | g.27463187T>C | CA370809037 | CHRNA2 | c.1256A>G (p.Glu419Gly) c.1211A>G (p.Glu404Gly) n.290-1433A>G c.1190A>G (p.Glu397Gly) c.*658A>G (n.*658A>G) c.779A>G (p.Glu260Gly) c.662A>G (p.Glu221Gly) | |
| 8 | g.27463187T>G | CA370809038 | CHRNA2 | c.1256A>C (p.Glu419Ala) c.1211A>C (p.Glu404Ala) n.290-1433A>C c.1190A>C (p.Glu397Ala) c.*658A>C (n.*658A>C) c.779A>C (p.Glu260Ala) c.662A>C (p.Glu221Ala) | |
| 8 | g.27463188C>A | CA370809039 | CHRNA2 | c.1255G>T (p.Glu419Ter) c.1210G>T (p.Glu404Ter) n.290-1434G>T c.1189G>T (p.Glu397Ter) c.*657G>T (n.*657G>T) c.778G>T (p.Glu260Ter) c.661G>T (p.Glu221Ter) | |
| 8 | g.27463188C= | CA1772813573 | CHRNA2 | c.1255G= (p.Glu419=) c.1210G= (p.Glu404=) n.290-1434G= c.1189G= (p.Glu397=) c.*657G= (n.*657G=) c.778G= (p.Glu260=) c.661G= (p.Glu221=) | |
| 8 | g.27463188C>G | CA370809041 | CHRNA2 | c.1255G>C (p.Glu419Gln) c.1210G>C (p.Glu404Gln) n.290-1434G>C c.1189G>C (p.Glu397Gln) c.*657G>C (n.*657G>C) c.778G>C (p.Glu260Gln) c.661G>C (p.Glu221Gln) | |
| 8 | g.27463188C>T | CA370809040 | CHRNA2 | c.1255G>A (p.Glu419Lys) c.1210G>A (p.Glu404Lys) n.290-1434G>A c.1189G>A (p.Glu397Lys) c.*657G>A (n.*657G>A) c.778G>A (p.Glu260Lys) c.661G>A (p.Glu221Lys) | ClinVar dbSNP COSMIC |
| 8 | g.27463189C>A | CA370809042 | CHRNA2 | c.1254G>T (p.Glu418Asp) c.1209G>T (p.Glu403Asp) n.290-1435G>T c.1188G>T (p.Glu396Asp) c.*656G>T (n.*656G>T) c.777G>T (p.Glu259Asp) c.660G>T (p.Glu220Asp) | |
| 8 | g.27463189C= | CA1772813577 | CHRNA2 | c.1254G= (p.Glu418=) c.1209G= (p.Glu403=) n.290-1435G= c.1188G= (p.Glu396=) c.*656G= (n.*656G=) c.777G= (p.Glu259=) c.660G= (p.Glu220=) | |
| 8 | g.27463189C>G | CA370809043 | CHRNA2 | c.1254G>C (p.Glu418Asp) c.1209G>C (p.Glu403Asp) n.290-1435G>C c.1188G>C (p.Glu396Asp) c.*656G>C (n.*656G>C) c.777G>C (p.Glu259Asp) c.660G>C (p.Glu220Asp) | |
| 8 | g.27463189C>T | CA4689490 | CHRNA2 | c.1254G>A (p.Glu418=) c.1209G>A (p.Glu403=) n.290-1435G>A c.1188G>A (p.Glu396=) c.*656G>A (n.*656G>A) c.777G>A (p.Glu259=) c.660G>A (p.Glu220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463190T>A | CA370809044 | CHRNA2 | c.1253A>T (p.Glu418Val) c.1208A>T (p.Glu403Val) n.290-1436A>T c.1187A>T (p.Glu396Val) c.*655A>T (n.*655A>T) c.776A>T (p.Glu259Val) c.659A>T (p.Glu220Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463190T>C | CA370809045 | CHRNA2 | c.1253A>G (p.Glu418Gly) c.1208A>G (p.Glu403Gly) n.290-1436A>G c.1187A>G (p.Glu396Gly) c.*655A>G (n.*655A>G) c.776A>G (p.Glu259Gly) c.659A>G (p.Glu220Gly) | |
| 8 | g.27463190T>G | CA370809046 | CHRNA2 | c.1253A>C (p.Glu418Ala) c.1208A>C (p.Glu403Ala) n.290-1436A>C c.1187A>C (p.Glu396Ala) c.*655A>C (n.*655A>C) c.776A>C (p.Glu259Ala) c.659A>C (p.Glu220Ala) | |
| 8 | g.27463190T= | CA1772813581 | CHRNA2 | c.1253A= (p.Glu418=) c.1208A= (p.Glu403=) n.290-1436A= c.1187A= (p.Glu396=) c.*655A= (n.*655A=) c.776A= (p.Glu259=) c.659A= (p.Glu220=) | |
| 8 | g.27463191C>A | CA370809047 | CHRNA2 | c.1252G>T (p.Glu418Ter) c.1207G>T (p.Glu403Ter) n.290-1437G>T c.1186G>T (p.Glu396Ter) c.*654G>T (n.*654G>T) c.775G>T (p.Glu259Ter) c.658G>T (p.Glu220Ter) | gnomAD v4 |
| 8 | g.27463191C= | CA1772813583 | CHRNA2 | c.1252G= (p.Glu418=) c.1207G= (p.Glu403=) n.290-1437G= c.1186G= (p.Glu396=) c.*654G= (n.*654G=) c.775G= (p.Glu259=) c.658G= (p.Glu220=) | |
| 8 | g.27463191C>G | CA370809048 | CHRNA2 | c.1252G>C (p.Glu418Gln) c.1207G>C (p.Glu403Gln) n.290-1437G>C c.1186G>C (p.Glu396Gln) c.*654G>C (n.*654G>C) c.775G>C (p.Glu259Gln) c.658G>C (p.Glu220Gln) | |
| 8 | g.27463191C>T | CA4689491 | CHRNA2 | c.1252G>A (p.Glu418Lys) c.1207G>A (p.Glu403Lys) n.290-1437G>A c.1186G>A (p.Glu396Lys) c.*654G>A (n.*654G>A) c.775G>A (p.Glu259Lys) c.658G>A (p.Glu220Lys) | dbSNP ExAC gnomAD v2 |
| 8 | g.27463199_27463201del | CA2686678220 | CHRNA2 | c.1250_1252del (p.Val417del) c.1205_1207del (p.Val402del) n.290-1439_290-1437del c.1184_1186del (p.Val395del) c.*652_*654del (n.*652_*654del) c.773_775del (p.Val258del) c.656_658del (p.Val219del) | gnomAD v4 |
| 8 | g.27463192C>A | CA460186143 | CHRNA2 | c.1251G>T (p.Val417=) c.1206G>T (p.Val402=) n.290-1438G>T c.1185G>T (p.Val395=) c.*653G>T (n.*653G>T) c.774G>T (p.Val258=) c.657G>T (p.Val219=) | |
| 8 | g.27463192C>G | CA460186145 | CHRNA2 | c.1251G>C (p.Val417=) c.1206G>C (p.Val402=) n.290-1438G>C c.1185G>C (p.Val395=) c.*653G>C (n.*653G>C) c.774G>C (p.Val258=) c.657G>C (p.Val219=) | |
| 8 | g.27463192C>T | CA460186146 | CHRNA2 | c.1251G>A (p.Val417=) c.1206G>A (p.Val402=) n.290-1438G>A c.1185G>A (p.Val395=) c.*653G>A (n.*653G>A) c.774G>A (p.Val258=) c.657G>A (p.Val219=) | |
| 8 | g.27463193A= | CA1772813585 | CHRNA2 | c.1250T= (p.Val417=) c.1205T= (p.Val402=) n.290-1439T= c.1184T= (p.Val395=) c.*652T= (n.*652T=) c.773T= (p.Val258=) c.656T= (p.Val219=) | |
| 8 | g.27463193A>C | CA370809049 | CHRNA2 | c.1250T>G (p.Val417Gly) c.1205T>G (p.Val402Gly) n.290-1439T>G c.1184T>G (p.Val395Gly) c.*652T>G (n.*652T>G) c.773T>G (p.Val258Gly) c.656T>G (p.Val219Gly) | dbSNP |
| 8 | g.27463193A>G | CA4689492 | CHRNA2 | c.1250T>C (p.Val417Ala) c.1205T>C (p.Val402Ala) n.290-1439T>C c.1184T>C (p.Val395Ala) c.*652T>C (n.*652T>C) c.773T>C (p.Val258Ala) c.656T>C (p.Val219Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463193A>T | CA370809050 | CHRNA2 | c.1250T>A (p.Val417Glu) c.1205T>A (p.Val402Glu) n.290-1439T>A c.1184T>A (p.Val395Glu) c.*652T>A (n.*652T>A) c.773T>A (p.Val258Glu) c.656T>A (p.Val219Glu) | |
| 8 | g.27463194C>A | CA370809053 | CHRNA2 | c.1249G>T (p.Val417Leu) c.1204G>T (p.Val402Leu) n.290-1440G>T c.1183G>T (p.Val395Leu) c.*651G>T (n.*651G>T) c.772G>T (p.Val258Leu) c.655G>T (p.Val219Leu) | gnomAD v4 |
| 8 | g.27463194C>G | CA370809052 | CHRNA2 | c.1249G>C (p.Val417Leu) c.1204G>C (p.Val402Leu) n.290-1440G>C c.1183G>C (p.Val395Leu) c.*651G>C (n.*651G>C) c.772G>C (p.Val258Leu) c.655G>C (p.Val219Leu) | |
| 8 | g.27463194C>T | CA370809051 | CHRNA2 | c.1249G>A (p.Val417Met) c.1204G>A (p.Val402Met) n.290-1440G>A c.1183G>A (p.Val395Met) c.*651G>A (n.*651G>A) c.772G>A (p.Val258Met) c.655G>A (p.Val219Met) | |
| 8 | g.27463195C>A | CA460186149 | CHRNA2 | c.1248G>T (p.Val416=) c.1203G>T (p.Val401=) n.290-1441G>T c.1182G>T (p.Val394=) c.*650G>T (n.*650G>T) c.771G>T (p.Val257=) c.654G>T (p.Val218=) | gnomAD v4 |
| 8 | g.27463195C= | CA1772813589 | CHRNA2 | c.1248G= (p.Val416=) c.1203G= (p.Val401=) n.290-1441G= c.1182G= (p.Val394=) c.*650G= (n.*650G=) c.771G= (p.Val257=) c.654G= (p.Val218=) | |
| 8 | g.27463195C>G | CA4689493 | CHRNA2 | c.1248G>C (p.Val416=) c.1203G>C (p.Val401=) n.290-1441G>C c.1182G>C (p.Val394=) c.*650G>C (n.*650G>C) c.771G>C (p.Val257=) c.654G>C (p.Val218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463195C>T | CA460186147 | CHRNA2 | c.1248G>A (p.Val416=) c.1203G>A (p.Val401=) n.290-1441G>A c.1182G>A (p.Val394=) c.*650G>A (n.*650G>A) c.771G>A (p.Val257=) c.654G>A (p.Val218=) | ClinVar |
| 8 | g.27463196A>C | CA370809054 | CHRNA2 | c.1247T>G (p.Val416Gly) c.1202T>G (p.Val401Gly) n.290-1442T>G c.1181T>G (p.Val394Gly) c.*649T>G (n.*649T>G) c.770T>G (p.Val257Gly) c.653T>G (p.Val218Gly) | |
| 8 | g.27463196A>G | CA370809055 | CHRNA2 | c.1247T>C (p.Val416Ala) c.1202T>C (p.Val401Ala) n.290-1442T>C c.1181T>C (p.Val394Ala) c.*649T>C (n.*649T>C) c.770T>C (p.Val257Ala) c.653T>C (p.Val218Ala) | |
| 8 | g.27463196A>T | CA370809056 | CHRNA2 | c.1247T>A (p.Val416Glu) c.1202T>A (p.Val401Glu) n.290-1442T>A c.1181T>A (p.Val394Glu) c.*649T>A (n.*649T>A) c.770T>A (p.Val257Glu) c.653T>A (p.Val218Glu) | COSMIC |
| 8 | g.27463197C>A | CA370809057 | CHRNA2 | c.1246G>T (p.Val416Leu) c.1201G>T (p.Val401Leu) n.290-1443G>T c.1180G>T (p.Val394Leu) c.*648G>T (n.*648G>T) c.769G>T (p.Val257Leu) c.652G>T (p.Val218Leu) | |
| 8 | g.27463197C= | CA1772813592 | CHRNA2 | c.1246G= (p.Val416=) c.1201G= (p.Val401=) n.290-1443G= c.1180G= (p.Val394=) c.*648G= (n.*648G=) c.769G= (p.Val257=) c.652G= (p.Val218=) | |
| 8 | g.27463197C>G | CA370809059 | CHRNA2 | c.1246G>C (p.Val416Leu) c.1201G>C (p.Val401Leu) n.290-1443G>C c.1180G>C (p.Val394Leu) c.*648G>C (n.*648G>C) c.769G>C (p.Val257Leu) c.652G>C (p.Val218Leu) | |
| 8 | g.27463197C>T | CA370809060 | CHRNA2 | c.1246G>A (p.Val416Met) c.1201G>A (p.Val401Met) n.290-1443G>A c.1180G>A (p.Val394Met) c.*648G>A (n.*648G>A) c.769G>A (p.Val257Met) c.652G>A (p.Val218Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463198C>A | CA460186158 | CHRNA2 | c.1245G>T (p.Val415=) c.1200G>T (p.Val400=) n.290-1444G>T c.1179G>T (p.Val393=) c.*647G>T (n.*647G>T) c.768G>T (p.Val256=) c.651G>T (p.Val217=) | gnomAD v4 |
| 8 | g.27463198C= | CA1772813599 | CHRNA2 | c.1245G= (p.Val415=) c.1200G= (p.Val400=) n.290-1444G= c.1179G= (p.Val393=) c.*647G= (n.*647G=) c.768G= (p.Val256=) c.651G= (p.Val217=) | |
| 8 | g.27463198C>G | CA174241333 | CHRNA2 | c.1245G>C (p.Val415=) c.1200G>C (p.Val400=) n.290-1444G>C c.1179G>C (p.Val393=) c.*647G>C (n.*647G>C) c.768G>C (p.Val256=) c.651G>C (p.Val217=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463198C>T | CA4689494 | CHRNA2 | c.1245G>A (p.Val415=) c.1200G>A (p.Val400=) n.290-1444G>A c.1179G>A (p.Val393=) c.*647G>A (n.*647G>A) c.768G>A (p.Val256=) c.651G>A (p.Val217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463199A= | CA1772813602 | CHRNA2 | c.1244T= (p.Val415=) c.1199T= (p.Val400=) n.290-1445T= c.1178T= (p.Val393=) c.*646T= (n.*646T=) c.767T= (p.Val256=) c.650T= (p.Val217=) | |
| 8 | g.27463199A>C | CA370809062 | CHRNA2 | c.1244T>G (p.Val415Gly) c.1199T>G (p.Val400Gly) n.290-1445T>G c.1178T>G (p.Val393Gly) c.*646T>G (n.*646T>G) c.767T>G (p.Val256Gly) c.650T>G (p.Val217Gly) | |
| 8 | g.27463199A>G | CA174241336 | CHRNA2 | c.1244T>C (p.Val415Ala) c.1199T>C (p.Val400Ala) n.290-1445T>C c.1178T>C (p.Val393Ala) c.*646T>C (n.*646T>C) c.767T>C (p.Val256Ala) c.650T>C (p.Val217Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463199A>T | CA370809063 | CHRNA2 | c.1244T>A (p.Val415Glu) c.1199T>A (p.Val400Glu) n.290-1445T>A c.1178T>A (p.Val393Glu) c.*646T>A (n.*646T>A) c.767T>A (p.Val256Glu) c.650T>A (p.Val217Glu) | |
| 8 | g.27463200C>A | CA370809065 | CHRNA2 | c.1243G>T (p.Val415Leu) c.1198G>T (p.Val400Leu) n.290-1446G>T c.1177G>T (p.Val393Leu) c.*645G>T (n.*645G>T) c.766G>T (p.Val256Leu) c.649G>T (p.Val217Leu) | gnomAD v4 |
| 8 | g.27463200C= | CA1772813606 | CHRNA2 | c.1243G= (p.Val415=) c.1198G= (p.Val400=) n.290-1446G= c.1177G= (p.Val393=) c.*645G= (n.*645G=) c.766G= (p.Val256=) c.649G= (p.Val217=) | |
| 8 | g.27463200C>G | CA370809066 | CHRNA2 | c.1243G>C (p.Val415Leu) c.1198G>C (p.Val400Leu) n.290-1446G>C c.1177G>C (p.Val393Leu) c.*645G>C (n.*645G>C) c.766G>C (p.Val256Leu) c.649G>C (p.Val217Leu) | gnomAD v4 |
| 8 | g.27463200C>T | CA174241354 | CHRNA2 | c.1243G>A (p.Val415Met) c.1198G>A (p.Val400Met) n.290-1446G>A c.1177G>A (p.Val393Met) c.*645G>A (n.*645G>A) c.766G>A (p.Val256Met) c.649G>A (p.Val217Met) | ClinVar dbSNP |
| 8 | g.27463201C>A | CA370809068 | CHRNA2 | c.1242G>T (p.Glu414Asp) c.1197G>T (p.Glu399Asp) n.290-1447G>T c.1176G>T (p.Glu392Asp) c.*644G>T (n.*644G>T) c.765G>T (p.Glu255Asp) c.648G>T (p.Glu216Asp) | gnomAD v4 |
| 8 | g.27463201C>G | CA370809069 | CHRNA2 | c.1242G>C (p.Glu414Asp) c.1197G>C (p.Glu399Asp) n.290-1447G>C c.1176G>C (p.Glu392Asp) c.*644G>C (n.*644G>C) c.765G>C (p.Glu255Asp) c.648G>C (p.Glu216Asp) | |
| 8 | g.27463201C>T | CA460186167 | CHRNA2 | c.1242G>A (p.Glu414=) c.1197G>A (p.Glu399=) n.290-1447G>A c.1176G>A (p.Glu392=) c.*644G>A (n.*644G>A) c.765G>A (p.Glu255=) c.648G>A (p.Glu216=) | gnomAD v4 |
| 8 | g.27463202T>A | CA370809070 | CHRNA2 | c.1241A>T (p.Glu414Val) c.1196A>T (p.Glu399Val) n.290-1448A>T c.1175A>T (p.Glu392Val) c.*643A>T (n.*643A>T) c.764A>T (p.Glu255Val) c.647A>T (p.Glu216Val) | |
| 8 | g.27463202T>C | CA370809071 | CHRNA2 | c.1241A>G (p.Glu414Gly) c.1196A>G (p.Glu399Gly) n.290-1448A>G c.1175A>G (p.Glu392Gly) c.*643A>G (n.*643A>G) c.764A>G (p.Glu255Gly) c.647A>G (p.Glu216Gly) | |
| 8 | g.27463202T>G | CA370809073 | CHRNA2 | c.1241A>C (p.Glu414Ala) c.1196A>C (p.Glu399Ala) n.290-1448A>C c.1175A>C (p.Glu392Ala) c.*643A>C (n.*643A>C) c.764A>C (p.Glu255Ala) c.647A>C (p.Glu216Ala) | |
| 8 | g.27463202_27463203delinsTC | CA1772813610 | CHRNA2 | c.1240_1241delinsGA (p.Glu414=) c.1195_1196delinsGA (p.Glu399=) n.290-1449_290-1448delinsGA c.1174_1175delinsGA (p.Glu392=) c.*642_*643delinsGA (n.*642_*643delinsGA) c.763_764delinsGA (p.Glu255=) c.646_647delinsGA (p.Glu216=) | |
| 8 | g.27463203C>A | CA370809074 | CHRNA2 | c.1240G>T (p.Glu414Ter) c.1195G>T (p.Glu399Ter) n.290-1449G>T c.1174G>T (p.Glu392Ter) c.*642G>T (n.*642G>T) c.763G>T (p.Glu255Ter) c.646G>T (p.Glu216Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463203C= | CA1772813617 | CHRNA2 | c.1240G= (p.Glu414=) c.1195G= (p.Glu399=) n.290-1449G= c.1174G= (p.Glu392=) c.*642G= (n.*642G=) c.763G= (p.Glu255=) c.646G= (p.Glu216=) | |
| 8 | g.27463203C>G | CA370809076 | CHRNA2 | c.1240G>C (p.Glu414Gln) c.1195G>C (p.Glu399Gln) n.290-1449G>C c.1174G>C (p.Glu392Gln) c.*642G>C (n.*642G>C) c.763G>C (p.Glu255Gln) c.646G>C (p.Glu216Gln) | |
| 8 | g.27463203C>T | CA174241360 | CHRNA2 | c.1240G>A (p.Glu414Lys) c.1195G>A (p.Glu399Lys) n.290-1449G>A c.1174G>A (p.Glu392Lys) c.*642G>A (n.*642G>A) c.763G>A (p.Glu255Lys) c.646G>A (p.Glu216Lys) | ClinVar dbSNP COSMIC |
| 8 | g.27463205del | CA460186172 | CHRNA2 | c.1240del (p.Glu414ArgfsTer?) c.1195del (p.Glu399ArgfsTer?) n.290-1449del c.1174del (p.Glu392ArgfsTer?) c.*642del (n.*642del) c.763del (p.Glu255ArgfsTer?) c.646del (p.Glu216ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463204C>A | CA370809078 | CHRNA2 | c.1239G>T (p.Arg413Ser) c.1194G>T (p.Arg398Ser) n.290-1450G>T c.1173G>T (p.Arg391Ser) c.*641G>T (n.*641G>T) c.762G>T (p.Arg254Ser) c.645G>T (p.Arg215Ser) | |
| 8 | g.27463204C= | CA1772813621 | CHRNA2 | c.1239G= (p.Arg413=) c.1194G= (p.Arg398=) n.290-1450G= c.1173G= (p.Arg391=) c.*641G= (n.*641G=) c.762G= (p.Arg254=) c.645G= (p.Arg215=) | |
| 8 | g.27463204C>G | CA370809080 | CHRNA2 | c.1239G>C (p.Arg413Ser) c.1194G>C (p.Arg398Ser) n.290-1450G>C c.1173G>C (p.Arg391Ser) c.*641G>C (n.*641G>C) c.762G>C (p.Arg254Ser) c.645G>C (p.Arg215Ser) | |
| 8 | g.27463204C>T | CA174241366 | CHRNA2 | c.1239G>A (p.Arg413=) c.1194G>A (p.Arg398=) n.290-1450G>A c.1173G>A (p.Arg391=) c.*641G>A (n.*641G>A) c.762G>A (p.Arg254=) c.645G>A (p.Arg215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463204_27463205delinsTT | CA645550782 | CHRNA2 | c.1238_1239delinsAA (p.Arg413Lys) c.1193_1194delinsAA (p.Arg398Lys) n.290-1451_290-1450delinsAA c.1172_1173delinsAA (p.Arg391Lys) c.*640_*641delinsAA (n.*640_*641delinsAA) c.761_762delinsAA (p.Arg254Lys) c.644_645delinsAA (p.Arg215Lys) | COSMIC |
| 8 | g.27463205C>A | CA370809082 | CHRNA2 | c.1238G>T (p.Arg413Met) c.1193G>T (p.Arg398Met) n.290-1451G>T c.1172G>T (p.Arg391Met) c.*640G>T (n.*640G>T) c.761G>T (p.Arg254Met) c.644G>T (p.Arg215Met) | gnomAD v4 |
| 8 | g.27463205C= | CA1772813623 | CHRNA2 | c.1238G= (p.Arg413=) c.1193G= (p.Arg398=) n.290-1451G= c.1172G= (p.Arg391=) c.*640G= (n.*640G=) c.761G= (p.Arg254=) c.644G= (p.Arg215=) | |
| 8 | g.27463205C>G | CA370809083 | CHRNA2 | c.1238G>C (p.Arg413Thr) c.1193G>C (p.Arg398Thr) n.290-1451G>C c.1172G>C (p.Arg391Thr) c.*640G>C (n.*640G>C) c.761G>C (p.Arg254Thr) c.644G>C (p.Arg215Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463205C>T | CA370809084 | CHRNA2 | c.1238G>A (p.Arg413Lys) c.1193G>A (p.Arg398Lys) n.290-1451G>A c.1172G>A (p.Arg391Lys) c.*640G>A (n.*640G>A) c.761G>A (p.Arg254Lys) c.644G>A (p.Arg215Lys) | |
| 8 | g.27463206T>A | CA370809085 | CHRNA2 | c.1237A>T (p.Arg413Trp) c.1192A>T (p.Arg398Trp) n.290-1452A>T c.1171A>T (p.Arg391Trp) c.*639A>T (n.*639A>T) c.760A>T (p.Arg254Trp) c.643A>T (p.Arg215Trp) | |
| 8 | g.27463206T>C | CA370809086 | CHRNA2 | c.1237A>G (p.Arg413Gly) c.1192A>G (p.Arg398Gly) n.290-1452A>G c.1171A>G (p.Arg391Gly) c.*639A>G (n.*639A>G) c.760A>G (p.Arg254Gly) c.643A>G (p.Arg215Gly) | |
| 8 | g.27463206T>G | CA460186175 | CHRNA2 | c.1237A>C (p.Arg413=) c.1192A>C (p.Arg398=) n.290-1452A>C c.1171A>C (p.Arg391=) c.*639A>C (n.*639A>C) c.760A>C (p.Arg254=) c.643A>C (p.Arg215=) | |
| 8 | g.27463207C>A | CA370809087 | CHRNA2 | c.1236G>T (p.Glu412Asp) c.1191G>T (p.Glu397Asp) n.290-1453G>T c.1170G>T (p.Glu390Asp) c.*638G>T (n.*638G>T) c.759G>T (p.Glu253Asp) c.642G>T (p.Glu214Asp) | |
| 8 | g.27463207C= | CA1772813625 | CHRNA2 | c.1236G= (p.Glu412=) c.1191G= (p.Glu397=) n.290-1453G= c.1170G= (p.Glu390=) c.*638G= (n.*638G=) c.759G= (p.Glu253=) c.642G= (p.Glu214=) | |
| 8 | g.27463207C>G | CA4689495 | CHRNA2 | c.1236G>C (p.Glu412Asp) c.1191G>C (p.Glu397Asp) n.290-1453G>C c.1170G>C (p.Glu390Asp) c.*638G>C (n.*638G>C) c.759G>C (p.Glu253Asp) c.642G>C (p.Glu214Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463207C>T | CA4689496 | CHRNA2 | c.1236G>A (p.Glu412=) c.1191G>A (p.Glu397=) n.290-1453G>A c.1170G>A (p.Glu390=) c.*638G>A (n.*638G>A) c.759G>A (p.Glu253=) c.642G>A (p.Glu214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463210_27463212del | CA2686678221 | CHRNA2 | c.1234_1236del (p.Glu412del) c.1189_1191del (p.Glu397del) n.290-1455_290-1453del c.1168_1170del (p.Glu390del) c.*636_*638del (n.*636_*638del) c.757_759del (p.Glu253del) c.640_642del (p.Glu214del) | gnomAD v4 |
| 8 | g.27463208T>A | CA370809088 | CHRNA2 | c.1235A>T (p.Glu412Val) c.1190A>T (p.Glu397Val) n.290-1454A>T c.1169A>T (p.Glu390Val) c.*637A>T (n.*637A>T) c.758A>T (p.Glu253Val) c.641A>T (p.Glu214Val) | |
| 8 | g.27463208T>C | CA370809089 | CHRNA2 | c.1235A>G (p.Glu412Gly) c.1190A>G (p.Glu397Gly) n.290-1454A>G c.1169A>G (p.Glu390Gly) c.*637A>G (n.*637A>G) c.758A>G (p.Glu253Gly) c.641A>G (p.Glu214Gly) | |
| 8 | g.27463208T>G | CA370809090 | CHRNA2 | c.1235A>C (p.Glu412Ala) c.1190A>C (p.Glu397Ala) n.290-1454A>C c.1169A>C (p.Glu390Ala) c.*637A>C (n.*637A>C) c.758A>C (p.Glu253Ala) c.641A>C (p.Glu214Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463208T= | CA1772813629 | CHRNA2 | c.1235A= (p.Glu412=) c.1190A= (p.Glu397=) n.290-1454A= c.1169A= (p.Glu390=) c.*637A= (n.*637A=) c.758A= (p.Glu253=) c.641A= (p.Glu214=) | |
| 8 | g.27463209C>A | CA370809091 | CHRNA2 | c.1234G>T (p.Glu412Ter) c.1189G>T (p.Glu397Ter) n.290-1455G>T c.1168G>T (p.Glu390Ter) c.*636G>T (n.*636G>T) c.757G>T (p.Glu253Ter) c.640G>T (p.Glu214Ter) | |
| 8 | g.27463209C= | CA1772813635 | CHRNA2 | c.1234G= (p.Glu412=) c.1189G= (p.Glu397=) n.290-1455G= c.1168G= (p.Glu390=) c.*636G= (n.*636G=) c.757G= (p.Glu253=) c.640G= (p.Glu214=) | |
| 8 | g.27463209C>G | CA370809093 | CHRNA2 | c.1234G>C (p.Glu412Gln) c.1189G>C (p.Glu397Gln) n.290-1455G>C c.1168G>C (p.Glu390Gln) c.*636G>C (n.*636G>C) c.757G>C (p.Glu253Gln) c.640G>C (p.Glu214Gln) | |
| 8 | g.27463209C>T | CA231028 | CHRNA2 | c.1234G>A (p.Glu412Lys) c.1189G>A (p.Glu397Lys) n.290-1455G>A c.1168G>A (p.Glu390Lys) c.*636G>A (n.*636G>A) c.757G>A (p.Glu253Lys) c.640G>A (p.Glu214Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463210C>A | CA370809095 | CHRNA2 | c.1233G>T (p.Glu411Asp) c.1188G>T (p.Glu396Asp) n.290-1456G>T c.1167G>T (p.Glu389Asp) c.*635G>T (n.*635G>T) c.756G>T (p.Glu252Asp) c.639G>T (p.Glu213Asp) | |
| 8 | g.27463210C>G | CA370809096 | CHRNA2 | c.1233G>C (p.Glu411Asp) c.1188G>C (p.Glu396Asp) n.290-1456G>C c.1167G>C (p.Glu389Asp) c.*635G>C (n.*635G>C) c.756G>C (p.Glu252Asp) c.639G>C (p.Glu213Asp) | |
| 8 | g.27463210C>T | CA460186183 | CHRNA2 | c.1233G>A (p.Glu411=) c.1188G>A (p.Glu396=) n.290-1456G>A c.1167G>A (p.Glu389=) c.*635G>A (n.*635G>A) c.756G>A (p.Glu252=) c.639G>A (p.Glu213=) | |
| 8 | g.27463210_27463213del | CA2579127523 | CHRNA2 | c.1230_1233del (p.Glu411ArgfsTer?) c.1185_1188del (p.Glu396ArgfsTer?) n.290-1459_290-1456del c.1164_1167del (p.Glu389ArgfsTer?) c.*632_*635del (n.*632_*635del) c.753_756del (p.Glu252ArgfsTer?) c.636_639del (p.Glu213ArgfsTer?) | |
| 8 | g.27463211T>A | CA370809099 | CHRNA2 | c.1232A>T (p.Glu411Val) c.1187A>T (p.Glu396Val) n.290-1457A>T c.1166A>T (p.Glu389Val) c.*634A>T (n.*634A>T) c.755A>T (p.Glu252Val) c.638A>T (p.Glu213Val) | |
| 8 | g.27463211T>C | CA370809100 | CHRNA2 | c.1232A>G (p.Glu411Gly) c.1187A>G (p.Glu396Gly) n.290-1457A>G c.1166A>G (p.Glu389Gly) c.*634A>G (n.*634A>G) c.755A>G (p.Glu252Gly) c.638A>G (p.Glu213Gly) | |
| 8 | g.27463211T>G | CA370809097 | CHRNA2 | c.1232A>C (p.Glu411Ala) c.1187A>C (p.Glu396Ala) n.290-1457A>C c.1166A>C (p.Glu389Ala) c.*634A>C (n.*634A>C) c.755A>C (p.Glu252Ala) c.638A>C (p.Glu213Ala) | |
| 8 | g.27463212C>A | CA370809102 | CHRNA2 | c.1231G>T (p.Glu411Ter) c.1186G>T (p.Glu396Ter) n.290-1458G>T c.1165G>T (p.Glu389Ter) c.*633G>T (n.*633G>T) c.754G>T (p.Glu252Ter) c.637G>T (p.Glu213Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463212C= | CA1772813641 | CHRNA2 | c.1231G= (p.Glu411=) c.1186G= (p.Glu396=) n.290-1458G= c.1165G= (p.Glu389=) c.*633G= (n.*633G=) c.754G= (p.Glu252=) c.637G= (p.Glu213=) | |
| 8 | g.27463212C>G | CA370809104 | CHRNA2 | c.1231G>C (p.Glu411Gln) c.1186G>C (p.Glu396Gln) n.290-1458G>C c.1165G>C (p.Glu389Gln) c.*633G>C (n.*633G>C) c.754G>C (p.Glu252Gln) c.637G>C (p.Glu213Gln) | |
| 8 | g.27463212C>T | CA370809105 | CHRNA2 | c.1231G>A (p.Glu411Lys) c.1186G>A (p.Glu396Lys) n.290-1458G>A c.1165G>A (p.Glu389Lys) c.*633G>A (n.*633G>A) c.754G>A (p.Glu252Lys) c.637G>A (p.Glu213Lys) | dbSNP gnomAD v4 |
| 8 | g.27463213G>A | CA460186189 | CHRNA2 | c.1230C>T (p.Ala410=) c.1185C>T (p.Ala395=) n.290-1459C>T c.1164C>T (p.Ala388=) c.*632C>T (n.*632C>T) c.753C>T (p.Ala251=) c.636C>T (p.Ala212=) | ClinVar gnomAD v4 |
| 8 | g.27463213G>C | CA460186191 | CHRNA2 | c.1230C>G (p.Ala410=) c.1185C>G (p.Ala395=) n.290-1459C>G c.1164C>G (p.Ala388=) c.*632C>G (n.*632C>G) c.753C>G (p.Ala251=) c.636C>G (p.Ala212=) | gnomAD v4 |
| 8 | g.27463213G>T | CA460186192 | CHRNA2 | c.1230C>A (p.Ala410=) c.1185C>A (p.Ala395=) n.290-1459C>A c.1164C>A (p.Ala388=) c.*632C>A (n.*632C>A) c.753C>A (p.Ala251=) c.636C>A (p.Ala212=) | |
| 8 | g.27463214G>A | CA370809106 | CHRNA2 | c.1229C>T (p.Ala410Val) c.1184C>T (p.Ala395Val) n.290-1460C>T c.1163C>T (p.Ala388Val) c.*631C>T (n.*631C>T) c.752C>T (p.Ala251Val) c.635C>T (p.Ala212Val) | ClinVar gnomAD v4 |
| 8 | g.27463214G>C | CA370809108 | CHRNA2 | c.1229C>G (p.Ala410Gly) c.1184C>G (p.Ala395Gly) n.290-1460C>G c.1163C>G (p.Ala388Gly) c.*631C>G (n.*631C>G) c.752C>G (p.Ala251Gly) c.635C>G (p.Ala212Gly) | |
| 8 | g.27463214G>T | CA370809109 | CHRNA2 | c.1229C>A (p.Ala410Asp) c.1184C>A (p.Ala395Asp) n.290-1460C>A c.1163C>A (p.Ala388Asp) c.*631C>A (n.*631C>A) c.752C>A (p.Ala251Asp) c.635C>A (p.Ala212Asp) | |
| 8 | g.27463215C>A | CA370809114 | CHRNA2 | c.1228G>T (p.Ala410Ser) c.1183G>T (p.Ala395Ser) n.290-1461G>T c.1162G>T (p.Ala388Ser) c.*630G>T (n.*630G>T) c.751G>T (p.Ala251Ser) c.634G>T (p.Ala212Ser) | gnomAD v4 |
| 8 | g.27463215C>G | CA370809111 | CHRNA2 | c.1228G>C (p.Ala410Pro) c.1183G>C (p.Ala395Pro) n.290-1461G>C c.1162G>C (p.Ala388Pro) c.*630G>C (n.*630G>C) c.751G>C (p.Ala251Pro) c.634G>C (p.Ala212Pro) | |
| 8 | g.27463215C>T | CA370809113 | CHRNA2 | c.1228G>A (p.Ala410Thr) c.1183G>A (p.Ala395Thr) n.290-1461G>A c.1162G>A (p.Ala388Thr) c.*630G>A (n.*630G>A) c.751G>A (p.Ala251Thr) c.634G>A (p.Ala212Thr) | |
| 8 | g.27463216A>C | CA370809115 | CHRNA2 | c.1227T>G (p.Asp409Glu) c.1182T>G (p.Asp394Glu) n.290-1462T>G c.1161T>G (p.Asp387Glu) c.*629T>G (n.*629T>G) c.750T>G (p.Asp250Glu) c.633T>G (p.Asp211Glu) | |
| 8 | g.27463216A>G | CA460186200 | CHRNA2 | c.1227T>C (p.Asp409=) c.1182T>C (p.Asp394=) n.290-1462T>C c.1161T>C (p.Asp387=) c.*629T>C (n.*629T>C) c.750T>C (p.Asp250=) c.633T>C (p.Asp211=) | |
| 8 | g.27463216A>T | CA370809117 | CHRNA2 | c.1227T>A (p.Asp409Glu) c.1182T>A (p.Asp394Glu) n.290-1462T>A c.1161T>A (p.Asp387Glu) c.*629T>A (n.*629T>A) c.750T>A (p.Asp250Glu) c.633T>A (p.Asp211Glu) | gnomAD v4 |
| 8 | g.27463217T>A | CA370809118 | CHRNA2 | c.1226A>T (p.Asp409Val) c.1181A>T (p.Asp394Val) n.290-1463A>T c.1160A>T (p.Asp387Val) c.*628A>T (n.*628A>T) c.749A>T (p.Asp250Val) c.632A>T (p.Asp211Val) | gnomAD v4 |
| 8 | g.27463217T>C | CA370809120 | CHRNA2 | c.1226A>G (p.Asp409Gly) c.1181A>G (p.Asp394Gly) n.290-1463A>G c.1160A>G (p.Asp387Gly) c.*628A>G (n.*628A>G) c.749A>G (p.Asp250Gly) c.632A>G (p.Asp211Gly) | |
| 8 | g.27463217T>G | CA370809121 | CHRNA2 | c.1226A>C (p.Asp409Ala) c.1181A>C (p.Asp394Ala) n.290-1463A>C c.1160A>C (p.Asp387Ala) c.*628A>C (n.*628A>C) c.749A>C (p.Asp250Ala) c.632A>C (p.Asp211Ala) | |
| 8 | g.27463218C>A | CA370809123 | CHRNA2 | c.1225G>T (p.Asp409Tyr) c.1180G>T (p.Asp394Tyr) n.290-1464G>T c.1159G>T (p.Asp387Tyr) c.*627G>T (n.*627G>T) c.748G>T (p.Asp250Tyr) c.631G>T (p.Asp211Tyr) | |
| 8 | g.27463218C>G | CA370809126 | CHRNA2 | c.1225G>C (p.Asp409His) c.1180G>C (p.Asp394His) n.290-1464G>C c.1159G>C (p.Asp387His) c.*627G>C (n.*627G>C) c.748G>C (p.Asp250His) c.631G>C (p.Asp211His) | |
| 8 | g.27463218C>T | CA370809124 | CHRNA2 | c.1225G>A (p.Asp409Asn) c.1180G>A (p.Asp394Asn) n.290-1464G>A c.1159G>A (p.Asp387Asn) c.*627G>A (n.*627G>A) c.748G>A (p.Asp250Asn) c.631G>A (p.Asp211Asn) | gnomAD v4 |
| 8 | g.27463219C>A | CA460186204 | CHRNA2 | c.1224G>T (p.Val408=) c.1179G>T (p.Val393=) n.290-1465G>T c.1158G>T (p.Val386=) c.*626G>T (n.*626G>T) c.747G>T (p.Val249=) c.630G>T (p.Val210=) | gnomAD v4 |
| 8 | g.27463219C>G | CA460186205 | CHRNA2 | c.1224G>C (p.Val408=) c.1179G>C (p.Val393=) n.290-1465G>C c.1158G>C (p.Val386=) c.*626G>C (n.*626G>C) c.747G>C (p.Val249=) c.630G>C (p.Val210=) | |
| 8 | g.27463219C>T | CA460186206 | CHRNA2 | c.1224G>A (p.Val408=) c.1179G>A (p.Val393=) n.290-1465G>A c.1158G>A (p.Val386=) c.*626G>A (n.*626G>A) c.747G>A (p.Val249=) c.630G>A (p.Val210=) | |
| 8 | g.27463220A= | CA1772813645 | CHRNA2 | c.1223T= (p.Val408=) c.1178T= (p.Val393=) n.290-1466T= c.1157T= (p.Val386=) c.*625T= (n.*625T=) c.746T= (p.Val249=) c.629T= (p.Val210=) | |
| 8 | g.27463220A>C | CA370809128 | CHRNA2 | c.1223T>G (p.Val408Gly) c.1178T>G (p.Val393Gly) n.290-1466T>G c.1157T>G (p.Val386Gly) c.*625T>G (n.*625T>G) c.746T>G (p.Val249Gly) c.629T>G (p.Val210Gly) | |
| 8 | g.27463220A>G | CA4689497 | CHRNA2 | c.1223T>C (p.Val408Ala) c.1178T>C (p.Val393Ala) n.290-1466T>C c.1157T>C (p.Val386Ala) c.*625T>C (n.*625T>C) c.746T>C (p.Val249Ala) c.629T>C (p.Val210Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463220A>T | CA370809130 | CHRNA2 | c.1223T>A (p.Val408Glu) c.1178T>A (p.Val393Glu) n.290-1466T>A c.1157T>A (p.Val386Glu) c.*625T>A (n.*625T>A) c.746T>A (p.Val249Glu) c.629T>A (p.Val210Glu) | |
| 8 | g.27463221C>A | CA370809132 | CHRNA2 | c.1222G>T (p.Val408Leu) c.1177G>T (p.Val393Leu) n.290-1467G>T c.1156G>T (p.Val386Leu) c.*624G>T (n.*624G>T) c.745G>T (p.Val249Leu) c.628G>T (p.Val210Leu) | gnomAD v4 |
| 8 | g.27463221C= | CA1772813653 | CHRNA2 | c.1222G= (p.Val408=) c.1177G= (p.Val393=) n.290-1467G= c.1156G= (p.Val386=) c.*624G= (n.*624G=) c.745G= (p.Val249=) c.628G= (p.Val210=) | |
| 8 | g.27463221C>G | CA313419 | CHRNA2 | c.1222G>C (p.Val408Leu) c.1177G>C (p.Val393Leu) n.290-1467G>C c.1156G>C (p.Val386Leu) c.*624G>C (n.*624G>C) c.745G>C (p.Val249Leu) c.628G>C (p.Val210Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463221C>T | CA370809133 | CHRNA2 | c.1222G>A (p.Val408Met) c.1177G>A (p.Val393Met) n.290-1467G>A c.1156G>A (p.Val386Met) c.*624G>A (n.*624G>A) c.745G>A (p.Val249Met) c.628G>A (p.Val210Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463222G>A | CA4689498 | CHRNA2 | c.1221C>T (p.Asn407=) c.1176C>T (p.Asn392=) n.290-1468C>T c.1155C>T (p.Asn385=) c.*623C>T (n.*623C>T) c.744C>T (p.Asn248=) c.627C>T (p.Asn209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463222G>C | CA370809135 | CHRNA2 | c.1221C>G (p.Asn407Lys) c.1176C>G (p.Asn392Lys) n.290-1468C>G c.1155C>G (p.Asn385Lys) c.*623C>G (n.*623C>G) c.744C>G (p.Asn248Lys) c.627C>G (p.Asn209Lys) | |
| 8 | g.27463222G= | CA1772813658 | CHRNA2 | c.1221C= (p.Asn407=) c.1176C= (p.Asn392=) n.290-1468C= c.1155C= (p.Asn385=) c.*623C= (n.*623C=) c.744C= (p.Asn248=) c.627C= (p.Asn209=) | |
| 8 | g.27463222G>T | CA370809137 | CHRNA2 | c.1221C>A (p.Asn407Lys) c.1176C>A (p.Asn392Lys) n.290-1468C>A c.1155C>A (p.Asn385Lys) c.*623C>A (n.*623C>A) c.744C>A (p.Asn248Lys) c.627C>A (p.Asn209Lys) | gnomAD v4 |
| 8 | g.27463223T>A | CA4689499 | CHRNA2 | c.1220A>T (p.Asn407Ile) c.1175A>T (p.Asn392Ile) n.290-1469A>T c.1154A>T (p.Asn385Ile) c.*622A>T (n.*622A>T) c.743A>T (p.Asn248Ile) c.626A>T (p.Asn209Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463223T>C | CA370809139 | CHRNA2 | c.1220A>G (p.Asn407Ser) c.1175A>G (p.Asn392Ser) n.290-1469A>G c.1154A>G (p.Asn385Ser) c.*622A>G (n.*622A>G) c.743A>G (p.Asn248Ser) c.626A>G (p.Asn209Ser) | |
| 8 | g.27463223T>G | CA370809141 | CHRNA2 | c.1220A>C (p.Asn407Thr) c.1175A>C (p.Asn392Thr) n.290-1469A>C c.1154A>C (p.Asn385Thr) c.*622A>C (n.*622A>C) c.743A>C (p.Asn248Thr) c.626A>C (p.Asn209Thr) | |
| 8 | g.27463223T= | CA1772813662 | CHRNA2 | c.1220A= (p.Asn407=) c.1175A= (p.Asn392=) n.290-1469A= c.1154A= (p.Asn385=) c.*622A= (n.*622A=) c.743A= (p.Asn248=) c.626A= (p.Asn209=) | |
| 8 | g.27463224T>A | CA370809144 | CHRNA2 | c.1219A>T (p.Asn407Tyr) c.1174A>T (p.Asn392Tyr) n.290-1470A>T c.1153A>T (p.Asn385Tyr) c.*621A>T (n.*621A>T) c.742A>T (p.Asn248Tyr) c.625A>T (p.Asn209Tyr) | |
| 8 | g.27463224T>C | CA370809145 | CHRNA2 | c.1219A>G (p.Asn407Asp) c.1174A>G (p.Asn392Asp) n.290-1470A>G c.1153A>G (p.Asn385Asp) c.*621A>G (n.*621A>G) c.742A>G (p.Asn248Asp) c.625A>G (p.Asn209Asp) | |
| 8 | g.27463224T>G | CA370809142 | CHRNA2 | c.1219A>C (p.Asn407His) c.1174A>C (p.Asn392His) n.290-1470A>C c.1153A>C (p.Asn385His) c.*621A>C (n.*621A>C) c.742A>C (p.Asn248His) c.625A>C (p.Asn209His) | |
| 8 | g.27463225G>A | CA460186217 | CHRNA2 | c.1218C>T (p.Ser406=) c.1173C>T (p.Ser391=) n.290-1471C>T c.1152C>T (p.Ser384=) c.*620C>T (n.*620C>T) c.741C>T (p.Ser247=) c.624C>T (p.Ser208=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463225G>C | CA4689500 | CHRNA2 | c.1218C>G (p.Ser406Arg) c.1173C>G (p.Ser391Arg) n.290-1471C>G c.1152C>G (p.Ser384Arg) c.*620C>G (n.*620C>G) c.741C>G (p.Ser247Arg) c.624C>G (p.Ser208Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463225G= | CA1772813668 | CHRNA2 | c.1218C= (p.Ser406=) c.1173C= (p.Ser391=) n.290-1471C= c.1152C= (p.Ser384=) c.*620C= (n.*620C=) c.741C= (p.Ser247=) c.624C= (p.Ser208=) | |
| 8 | g.27463225G>T | CA370809146 | CHRNA2 | c.1218C>A (p.Ser406Arg) c.1173C>A (p.Ser391Arg) n.290-1471C>A c.1152C>A (p.Ser384Arg) c.*620C>A (n.*620C>A) c.741C>A (p.Ser247Arg) c.624C>A (p.Ser208Arg) | |
| 8 | g.27463226C>A | CA370809151 | CHRNA2 | c.1217G>T (p.Ser406Ile) c.1172G>T (p.Ser391Ile) n.290-1472G>T c.1151G>T (p.Ser384Ile) c.*619G>T (n.*619G>T) c.740G>T (p.Ser247Ile) c.623G>T (p.Ser208Ile) | gnomAD v4 |
| 8 | g.27463226C= | CA1772813672 | CHRNA2 | c.1217G= (p.Ser406=) c.1172G= (p.Ser391=) n.290-1472G= c.1151G= (p.Ser384=) c.*619G= (n.*619G=) c.740G= (p.Ser247=) c.623G= (p.Ser208=) | |
| 8 | g.27463226C>G | CA370809148 | CHRNA2 | c.1217G>C (p.Ser406Thr) c.1172G>C (p.Ser391Thr) n.290-1472G>C c.1151G>C (p.Ser384Thr) c.*619G>C (n.*619G>C) c.740G>C (p.Ser247Thr) c.623G>C (p.Ser208Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463226C>T | CA370809149 | CHRNA2 | c.1217G>A (p.Ser406Asn) c.1172G>A (p.Ser391Asn) n.290-1472G>A c.1151G>A (p.Ser384Asn) c.*619G>A (n.*619G>A) c.740G>A (p.Ser247Asn) c.623G>A (p.Ser208Asn) | COSMIC |
| 8 | g.27463227T>A | CA370809152 | CHRNA2 | c.1216A>T (p.Ser406Cys) c.1171A>T (p.Ser391Cys) n.290-1473A>T c.1150A>T (p.Ser384Cys) c.*618A>T (n.*618A>T) c.739A>T (p.Ser247Cys) c.622A>T (p.Ser208Cys) | |
| 8 | g.27463227T>C | CA370809154 | CHRNA2 | c.1216A>G (p.Ser406Gly) c.1171A>G (p.Ser391Gly) n.290-1473A>G c.1150A>G (p.Ser384Gly) c.*618A>G (n.*618A>G) c.739A>G (p.Ser247Gly) c.622A>G (p.Ser208Gly) | gnomAD v4 |
| 8 | g.27463227T>G | CA370809155 | CHRNA2 | c.1216A>C (p.Ser406Arg) c.1171A>C (p.Ser391Arg) n.290-1473A>C c.1150A>C (p.Ser384Arg) c.*618A>C (n.*618A>C) c.739A>C (p.Ser247Arg) c.622A>C (p.Ser208Arg) | |
| 8 | g.27463228C>A | CA370809156 | CHRNA2 | c.1215G>T (p.Glu405Asp) c.1170G>T (p.Glu390Asp) n.290-1474G>T c.1149G>T (p.Glu383Asp) c.*617G>T (n.*617G>T) c.738G>T (p.Glu246Asp) c.621G>T (p.Glu207Asp) | |
| 8 | g.27463228C= | CA1772813676 | CHRNA2 | c.1215G= (p.Glu405=) c.1170G= (p.Glu390=) n.290-1474G= c.1149G= (p.Glu383=) c.*617G= (n.*617G=) c.738G= (p.Glu246=) c.621G= (p.Glu207=) | |
| 8 | g.27463228C>G | CA370809158 | CHRNA2 | c.1215G>C (p.Glu405Asp) c.1170G>C (p.Glu390Asp) n.290-1474G>C c.1149G>C (p.Glu383Asp) c.*617G>C (n.*617G>C) c.738G>C (p.Glu246Asp) c.621G>C (p.Glu207Asp) | |
| 8 | g.27463228C>T | CA174241435 | CHRNA2 | c.1215G>A (p.Glu405=) c.1170G>A (p.Glu390=) n.290-1474G>A c.1149G>A (p.Glu383=) c.*617G>A (n.*617G>A) c.738G>A (p.Glu246=) c.621G>A (p.Glu207=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463229T>A | CA370809159 | CHRNA2 | c.1214A>T (p.Glu405Val) c.1169A>T (p.Glu390Val) n.290-1475A>T c.1148A>T (p.Glu383Val) c.*616A>T (n.*616A>T) c.737A>T (p.Glu246Val) c.620A>T (p.Glu207Val) | |
| 8 | g.27463229T>C | CA4689501 | CHRNA2 | c.1214A>G (p.Glu405Gly) c.1169A>G (p.Glu390Gly) n.290-1475A>G c.1148A>G (p.Glu383Gly) c.*616A>G (n.*616A>G) c.737A>G (p.Glu246Gly) c.620A>G (p.Glu207Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463229T>G | CA370809161 | CHRNA2 | c.1214A>C (p.Glu405Ala) c.1169A>C (p.Glu390Ala) n.290-1475A>C c.1148A>C (p.Glu383Ala) c.*616A>C (n.*616A>C) c.737A>C (p.Glu246Ala) c.620A>C (p.Glu207Ala) | gnomAD v4 |
| 8 | g.27463229T= | CA1772813680 | CHRNA2 | c.1214A= (p.Glu405=) c.1169A= (p.Glu390=) n.290-1475A= c.1148A= (p.Glu383=) c.*616A= (n.*616A=) c.737A= (p.Glu246=) c.620A= (p.Glu207=) | |
| 8 | g.27463230C>A | CA370809162 | CHRNA2 | c.1213G>T (p.Glu405Ter) c.1168G>T (p.Glu390Ter) n.290-1476G>T c.1147G>T (p.Glu383Ter) c.*615G>T (n.*615G>T) c.736G>T (p.Glu246Ter) c.619G>T (p.Glu207Ter) | |
| 8 | g.27463230C= | CA1772813683 | CHRNA2 | c.1213G= (p.Glu405=) c.1168G= (p.Glu390=) n.290-1476G= c.1147G= (p.Glu383=) c.*615G= (n.*615G=) c.736G= (p.Glu246=) c.619G= (p.Glu207=) | |
| 8 | g.27463230C>G | CA370809163 | CHRNA2 | c.1213G>C (p.Glu405Gln) c.1168G>C (p.Glu390Gln) n.290-1476G>C c.1147G>C (p.Glu383Gln) c.*615G>C (n.*615G>C) c.736G>C (p.Glu246Gln) c.619G>C (p.Glu207Gln) | gnomAD v4 |
| 8 | g.27463230C>T | CA370809165 | CHRNA2 | c.1213G>A (p.Glu405Lys) c.1168G>A (p.Glu390Lys) n.290-1476G>A c.1147G>A (p.Glu383Lys) c.*615G>A (n.*615G>A) c.736G>A (p.Glu246Lys) c.619G>A (p.Glu207Lys) | dbSNP gnomAD v4 |
| 8 | g.27463231C>A | CA460186223 | CHRNA2 | c.1212G>T (p.Leu404=) c.1167G>T (p.Leu389=) n.290-1477G>T c.1146G>T (p.Leu382=) c.*614G>T (n.*614G>T) c.735G>T (p.Leu245=) c.618G>T (p.Leu206=) | |
| 8 | g.27463231C>G | CA460186225 | CHRNA2 | c.1212G>C (p.Leu404=) c.1167G>C (p.Leu389=) n.290-1477G>C c.1146G>C (p.Leu382=) c.*614G>C (n.*614G>C) c.735G>C (p.Leu245=) c.618G>C (p.Leu206=) | |
| 8 | g.27463231C>T | CA460186227 | CHRNA2 | c.1212G>A (p.Leu404=) c.1167G>A (p.Leu389=) n.290-1477G>A c.1146G>A (p.Leu382=) c.*614G>A (n.*614G>A) c.735G>A (p.Leu245=) c.618G>A (p.Leu206=) | |
| 8 | g.27463232A>C | CA370809166 | CHRNA2 | c.1211T>G (p.Leu404Arg) c.1166T>G (p.Leu389Arg) n.290-1478T>G c.1145T>G (p.Leu382Arg) c.*613T>G (n.*613T>G) c.734T>G (p.Leu245Arg) c.617T>G (p.Leu206Arg) | |
| 8 | g.27463232A>G | CA370809169 | CHRNA2 | c.1211T>C (p.Leu404Pro) c.1166T>C (p.Leu389Pro) n.290-1478T>C c.1145T>C (p.Leu382Pro) c.*613T>C (n.*613T>C) c.734T>C (p.Leu245Pro) c.617T>C (p.Leu206Pro) | |
| 8 | g.27463232A>T | CA370809167 | CHRNA2 | c.1211T>A (p.Leu404Gln) c.1166T>A (p.Leu389Gln) n.290-1478T>A c.1145T>A (p.Leu382Gln) c.*613T>A (n.*613T>A) c.734T>A (p.Leu245Gln) c.617T>A (p.Leu206Gln) | |
| 8 | g.27463233G>A | CA460186233 | CHRNA2 | c.1210C>T (p.Leu404=) c.1165C>T (p.Leu389=) n.290-1479C>T c.1144C>T (p.Leu382=) c.*612C>T (n.*612C>T) c.733C>T (p.Leu245=) c.616C>T (p.Leu206=) | |
| 8 | g.27463233G>C | CA370809170 | CHRNA2 | c.1210C>G (p.Leu404Val) c.1165C>G (p.Leu389Val) n.290-1479C>G c.1144C>G (p.Leu382Val) c.*612C>G (n.*612C>G) c.733C>G (p.Leu245Val) c.616C>G (p.Leu206Val) | |
| 8 | g.27463233G>T | CA370809172 | CHRNA2 | c.1210C>A (p.Leu404Met) c.1165C>A (p.Leu389Met) n.290-1479C>A c.1144C>A (p.Leu382Met) c.*612C>A (n.*612C>A) c.733C>A (p.Leu245Met) c.616C>A (p.Leu206Met) | |
| 8 | g.27463234C>A | CA370809174 | CHRNA2 | c.1209G>T (p.Trp403Cys) c.1164G>T (p.Trp388Cys) n.290-1480G>T c.1143G>T (p.Trp381Cys) c.*611G>T (n.*611G>T) c.732G>T (p.Trp244Cys) c.615G>T (p.Trp205Cys) | gnomAD v4 |
| 8 | g.27463234C>G | CA370809175 | CHRNA2 | c.1209G>C (p.Trp403Cys) c.1164G>C (p.Trp388Cys) n.290-1480G>C c.1143G>C (p.Trp381Cys) c.*611G>C (n.*611G>C) c.732G>C (p.Trp244Cys) c.615G>C (p.Trp205Cys) | gnomAD v4 |
| 8 | g.27463234C>T | CA370809176 | CHRNA2 | c.1209G>A (p.Trp403Ter) c.1164G>A (p.Trp388Ter) n.290-1480G>A c.1143G>A (p.Trp381Ter) c.*611G>A (n.*611G>A) c.732G>A (p.Trp244Ter) c.615G>A (p.Trp205Ter) | |
| 8 | g.27463235C>A | CA370809178 | CHRNA2 | c.1208G>T (p.Trp403Leu) c.1163G>T (p.Trp388Leu) n.290-1481G>T c.1142G>T (p.Trp381Leu) c.*610G>T (n.*610G>T) c.731G>T (p.Trp244Leu) c.614G>T (p.Trp205Leu) | |
| 8 | g.27463235C>G | CA370809179 | CHRNA2 | c.1208G>C (p.Trp403Ser) c.1163G>C (p.Trp388Ser) n.290-1481G>C c.1142G>C (p.Trp381Ser) c.*610G>C (n.*610G>C) c.731G>C (p.Trp244Ser) c.614G>C (p.Trp205Ser) | |
| 8 | g.27463235C>T | CA370809181 | CHRNA2 | c.1208G>A (p.Trp403Ter) c.1163G>A (p.Trp388Ter) n.290-1481G>A c.1142G>A (p.Trp381Ter) c.*610G>A (n.*610G>A) c.731G>A (p.Trp244Ter) c.614G>A (p.Trp205Ter) | |
| 8 | g.27463236A>C | CA370809183 | CHRNA2 | c.1207T>G (p.Trp403Gly) c.1162T>G (p.Trp388Gly) n.290-1482T>G c.1141T>G (p.Trp381Gly) c.*609T>G (n.*609T>G) c.730T>G (p.Trp244Gly) c.613T>G (p.Trp205Gly) | |
| 8 | g.27463236A>G | CA370809184 | CHRNA2 | c.1207T>C (p.Trp403Arg) c.1162T>C (p.Trp388Arg) n.290-1482T>C c.1141T>C (p.Trp381Arg) c.*609T>C (n.*609T>C) c.730T>C (p.Trp244Arg) c.613T>C (p.Trp205Arg) | |
| 8 | g.27463236A>T | CA370809185 | CHRNA2 | c.1207T>A (p.Trp403Arg) c.1162T>A (p.Trp388Arg) n.290-1482T>A c.1141T>A (p.Trp381Arg) c.*609T>A (n.*609T>A) c.730T>A (p.Trp244Arg) c.613T>A (p.Trp205Arg) | |
| 8 | g.27463237G>A | CA460186256 | CHRNA2 | c.1206C>T (p.His402=) c.1161C>T (p.His387=) n.290-1483C>T c.1140C>T (p.His380=) c.*608C>T (n.*608C>T) c.729C>T (p.His243=) c.612C>T (p.His204=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463237G>C | CA370809189 | CHRNA2 | c.1206C>G (p.His402Gln) c.1161C>G (p.His387Gln) n.290-1483C>G c.1140C>G (p.His380Gln) c.*608C>G (n.*608C>G) c.729C>G (p.His243Gln) c.612C>G (p.His204Gln) | |
| 8 | g.27463237G>T | CA370809187 | CHRNA2 | c.1206C>A (p.His402Gln) c.1161C>A (p.His387Gln) n.290-1483C>A c.1140C>A (p.His380Gln) c.*608C>A (n.*608C>A) c.729C>A (p.His243Gln) c.612C>A (p.His204Gln) | |
| 8 | g.27463238T>A | CA370809190 | CHRNA2 | c.1205A>T (p.His402Leu) c.1160A>T (p.His387Leu) n.290-1484A>T c.1139A>T (p.His380Leu) c.*607A>T (n.*607A>T) c.728A>T (p.His243Leu) c.611A>T (p.His204Leu) | |
| 8 | g.27463238T>C | CA370809191 | CHRNA2 | c.1205A>G (p.His402Arg) c.1160A>G (p.His387Arg) n.290-1484A>G c.1139A>G (p.His380Arg) c.*607A>G (n.*607A>G) c.728A>G (p.His243Arg) c.611A>G (p.His204Arg) | dbSNP |
| 8 | g.27463238T>G | CA370809193 | CHRNA2 | c.1205A>C (p.His402Pro) c.1160A>C (p.His387Pro) n.290-1484A>C c.1139A>C (p.His380Pro) c.*607A>C (n.*607A>C) c.728A>C (p.His243Pro) c.611A>C (p.His204Pro) | |
| 8 | g.27463238T= | CA1772813686 | CHRNA2 | c.1205A= (p.His402=) c.1160A= (p.His387=) n.290-1484A= c.1139A= (p.His380=) c.*607A= (n.*607A=) c.728A= (p.His243=) c.611A= (p.His204=) | |
| 8 | g.27463239G>A | CA4689502 | CHRNA2 | c.1204C>T (p.His402Tyr) c.1159C>T (p.His387Tyr) n.290-1485C>T c.1138C>T (p.His380Tyr) c.*606C>T (n.*606C>T) c.727C>T (p.His243Tyr) c.610C>T (p.His204Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463239G>C | CA370809194 | CHRNA2 | c.1204C>G (p.His402Asp) c.1159C>G (p.His387Asp) n.290-1485C>G c.1138C>G (p.His380Asp) c.*606C>G (n.*606C>G) c.727C>G (p.His243Asp) c.610C>G (p.His204Asp) | |
| 8 | g.27463239G= | CA1772813688 | CHRNA2 | c.1204C= (p.His402=) c.1159C= (p.His387=) n.290-1485C= c.1138C= (p.His380=) c.*606C= (n.*606C=) c.727C= (p.His243=) c.610C= (p.His204=) | |
| 8 | g.27463239G>T | CA370809195 | CHRNA2 | c.1204C>A (p.His402Asn) c.1159C>A (p.His387Asn) n.290-1485C>A c.1138C>A (p.His380Asn) c.*606C>A (n.*606C>A) c.727C>A (p.His243Asn) c.610C>A (p.His204Asn) | |
| 8 | g.27463240A= | CA1772813690 | CHRNA2 | c.1203T= (p.Tyr401=) c.1158T= (p.Tyr386=) n.290-1486T= c.1137T= (p.Tyr379=) c.*605T= (n.*605T=) c.726T= (p.Tyr242=) c.609T= (p.Tyr203=) | |
| 8 | g.27463240A>C | CA370809197 | CHRNA2 | c.1203T>G (p.Tyr401Ter) c.1158T>G (p.Tyr386Ter) n.290-1486T>G c.1137T>G (p.Tyr379Ter) c.*605T>G (n.*605T>G) c.726T>G (p.Tyr242Ter) c.609T>G (p.Tyr203Ter) | |
| 8 | g.27463240A>G | CA460186262 | CHRNA2 | c.1203T>C (p.Tyr401=) c.1158T>C (p.Tyr386=) n.290-1486T>C c.1137T>C (p.Tyr379=) c.*605T>C (n.*605T>C) c.726T>C (p.Tyr242=) c.609T>C (p.Tyr203=) | gnomAD v4 |
| 8 | g.27463240A>T | CA370809198 | CHRNA2 | c.1203T>A (p.Tyr401Ter) c.1158T>A (p.Tyr386Ter) n.290-1486T>A c.1137T>A (p.Tyr379Ter) c.*605T>A (n.*605T>A) c.726T>A (p.Tyr242Ter) c.609T>A (p.Tyr203Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463241T>A | CA370809199 | CHRNA2 | c.1202A>T (p.Tyr401Phe) c.1157A>T (p.Tyr386Phe) n.290-1487A>T c.1136A>T (p.Tyr379Phe) c.*604A>T (n.*604A>T) c.725A>T (p.Tyr242Phe) c.608A>T (p.Tyr203Phe) | |
| 8 | g.27463241T>C | CA4689503 | CHRNA2 | c.1202A>G (p.Tyr401Cys) c.1157A>G (p.Tyr386Cys) n.290-1487A>G c.1136A>G (p.Tyr379Cys) c.*604A>G (n.*604A>G) c.725A>G (p.Tyr242Cys) c.608A>G (p.Tyr203Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463241T>G | CA370809201 | CHRNA2 | c.1202A>C (p.Tyr401Ser) c.1157A>C (p.Tyr386Ser) n.290-1487A>C c.1136A>C (p.Tyr379Ser) c.*604A>C (n.*604A>C) c.725A>C (p.Tyr242Ser) c.608A>C (p.Tyr203Ser) | |
| 8 | g.27463241T= | CA1772813693 | CHRNA2 | c.1202A= (p.Tyr401=) c.1157A= (p.Tyr386=) n.290-1487A= c.1136A= (p.Tyr379=) c.*604A= (n.*604A=) c.725A= (p.Tyr242=) c.608A= (p.Tyr203=) | |
| 8 | g.27463241_27463242delinsTA | CA1772813694 | CHRNA2 | c.1201_1202delinsTA (p.Tyr401=) c.1156_1157delinsTA (p.Tyr386=) n.290-1488_290-1487delinsTA c.1135_1136delinsTA (p.Tyr379=) c.*603_*604delinsTA (n.*603_*604delinsTA) c.724_725delinsTA (p.Tyr242=) c.607_608delinsTA (p.Tyr203=) | |
| 8 | g.27463242A>C | CA370809203 | CHRNA2 | c.1201T>G (p.Tyr401Asp) c.1156T>G (p.Tyr386Asp) n.290-1488T>G c.1135T>G (p.Tyr379Asp) c.*603T>G (n.*603T>G) c.724T>G (p.Tyr242Asp) c.607T>G (p.Tyr203Asp) | |
| 8 | g.27463242A>G | CA370809205 | CHRNA2 | c.1201T>C (p.Tyr401His) c.1156T>C (p.Tyr386His) n.290-1488T>C c.1135T>C (p.Tyr379His) c.*603T>C (n.*603T>C) c.724T>C (p.Tyr242His) c.607T>C (p.Tyr203His) | |
| 8 | g.27463242A>T | CA370809206 | CHRNA2 | c.1201T>A (p.Tyr401Asn) c.1156T>A (p.Tyr386Asn) n.290-1488T>A c.1135T>A (p.Tyr379Asn) c.*603T>A (n.*603T>A) c.724T>A (p.Tyr242Asn) c.607T>A (p.Tyr203Asn) | |
| 8 | g.27463243del | CA174241444 | CHRNA2 | c.1201del (p.Tyr401IlefsTer?) c.1156del (p.Tyr386IlefsTer?) n.290-1488del c.1135del (p.Tyr379IlefsTer?) c.*603del (n.*603del) c.724del (p.Tyr242IlefsTer?) c.607del (p.Tyr203IlefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463243A= | CA1772813701 | CHRNA2 | c.1200T= (p.Ser400=) c.1155T= (p.Ser385=) n.290-1489T= c.1134T= (p.Ser378=) c.*602T= (n.*602T=) c.723T= (p.Ser241=) c.606T= (p.Ser202=) | |
| 8 | g.27463243A>C | CA174241445 | CHRNA2 | c.1200T>G (p.Ser400=) c.1155T>G (p.Ser385=) n.290-1489T>G c.1134T>G (p.Ser378=) c.*602T>G (n.*602T>G) c.723T>G (p.Ser241=) c.606T>G (p.Ser202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463243A>G | CA460186265 | CHRNA2 | c.1200T>C (p.Ser400=) c.1155T>C (p.Ser385=) n.290-1489T>C c.1134T>C (p.Ser378=) c.*602T>C (n.*602T>C) c.723T>C (p.Ser241=) c.606T>C (p.Ser202=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463243A>T | CA460186264 | CHRNA2 | c.1200T>A (p.Ser400=) c.1155T>A (p.Ser385=) n.290-1489T>A c.1134T>A (p.Ser378=) c.*602T>A (n.*602T>A) c.723T>A (p.Ser241=) c.606T>A (p.Ser202=) | |
| 8 | g.27463245_27463246del | CA2686678222 | CHRNA2 | c.1199_1200del (p.Ser400LeufsTer?) c.1154_1155del (p.Ser385LeufsTer?) n.290-1490_290-1489del c.1133_1134del (p.Ser378LeufsTer?) c.*601_*602del (n.*601_*602del) c.722_723del (p.Ser241LeufsTer?) c.605_606del (p.Ser202LeufsTer?) | gnomAD v4 |
| 8 | g.27463244G>A | CA370809207 | CHRNA2 | c.1199C>T (p.Ser400Phe) c.1154C>T (p.Ser385Phe) n.290-1490C>T c.1133C>T (p.Ser378Phe) c.*601C>T (n.*601C>T) c.722C>T (p.Ser241Phe) c.605C>T (p.Ser202Phe) | |
| 8 | g.27463244G>C | CA370809208 | CHRNA2 | c.1199C>G (p.Ser400Cys) c.1154C>G (p.Ser385Cys) n.290-1490C>G c.1133C>G (p.Ser378Cys) c.*601C>G (n.*601C>G) c.722C>G (p.Ser241Cys) c.605C>G (p.Ser202Cys) | gnomAD v4 |
| 8 | g.27463244G>T | CA370809210 | CHRNA2 | c.1199C>A (p.Ser400Tyr) c.1154C>A (p.Ser385Tyr) n.290-1490C>A c.1133C>A (p.Ser378Tyr) c.*601C>A (n.*601C>A) c.722C>A (p.Ser241Tyr) c.605C>A (p.Ser202Tyr) | |
| 8 | g.27463245A= | CA1772813705 | CHRNA2 | c.1198T= (p.Ser400=) c.1153T= (p.Ser385=) n.290-1491T= c.1132T= (p.Ser378=) c.*600T= (n.*600T=) c.721T= (p.Ser241=) c.604T= (p.Ser202=) | |
| 8 | g.27463245A>C | CA370809211 | CHRNA2 | c.1198T>G (p.Ser400Ala) c.1153T>G (p.Ser385Ala) n.290-1491T>G c.1132T>G (p.Ser378Ala) c.*600T>G (n.*600T>G) c.721T>G (p.Ser241Ala) c.604T>G (p.Ser202Ala) | dbSNP gnomAD v4 |
| 8 | g.27463245A>G | CA370809212 | CHRNA2 | c.1198T>C (p.Ser400Pro) c.1153T>C (p.Ser385Pro) n.290-1491T>C c.1132T>C (p.Ser378Pro) c.*600T>C (n.*600T>C) c.721T>C (p.Ser241Pro) c.604T>C (p.Ser202Pro) | dbSNP gnomAD v4 |
| 8 | g.27463245A>T | CA4689504 | CHRNA2 | c.1198T>A (p.Ser400Thr) c.1153T>A (p.Ser385Thr) n.290-1491T>A c.1132T>A (p.Ser378Thr) c.*600T>A (n.*600T>A) c.721T>A (p.Ser241Thr) c.604T>A (p.Ser202Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463246G>A | CA460186273 | CHRNA2 | c.1197C>T (p.Pro399=) c.1152C>T (p.Pro384=) n.290-1492C>T c.1131C>T (p.Pro377=) c.*599C>T (n.*599C>T) c.720C>T (p.Pro240=) c.603C>T (p.Pro201=) | dbSNP |
| 8 | g.27463246G>C | CA460186274 | CHRNA2 | c.1197C>G (p.Pro399=) c.1152C>G (p.Pro384=) n.290-1492C>G c.1131C>G (p.Pro377=) c.*599C>G (n.*599C>G) c.720C>G (p.Pro240=) c.603C>G (p.Pro201=) | |
| 8 | g.27463246G= | CA1772813708 | CHRNA2 | c.1197C= (p.Pro399=) c.1152C= (p.Pro384=) n.290-1492C= c.1131C= (p.Pro377=) c.*599C= (n.*599C=) c.720C= (p.Pro240=) c.603C= (p.Pro201=) | |
| 8 | g.27463246G>T | CA460186275 | CHRNA2 | c.1197C>A (p.Pro399=) c.1152C>A (p.Pro384=) n.290-1492C>A c.1131C>A (p.Pro377=) c.*599C>A (n.*599C>A) c.720C>A (p.Pro240=) c.603C>A (p.Pro201=) | |
| 8 | g.27463247G>A | CA370809215 | CHRNA2 | c.1196C>T (p.Pro399Leu) c.1151C>T (p.Pro384Leu) n.290-1493C>T c.1130C>T (p.Pro377Leu) c.*598C>T (n.*598C>T) c.719C>T (p.Pro240Leu) c.602C>T (p.Pro201Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463247G>C | CA370809216 | CHRNA2 | c.1196C>G (p.Pro399Arg) c.1151C>G (p.Pro384Arg) n.290-1493C>G c.1130C>G (p.Pro377Arg) c.*598C>G (n.*598C>G) c.719C>G (p.Pro240Arg) c.602C>G (p.Pro201Arg) | |
| 8 | g.27463247G= | CA1772813711 | CHRNA2 | c.1196C= (p.Pro399=) c.1151C= (p.Pro384=) n.290-1493C= c.1130C= (p.Pro377=) c.*598C= (n.*598C=) c.719C= (p.Pro240=) c.602C= (p.Pro201=) | |
| 8 | g.27463247G>T | CA370809217 | CHRNA2 | c.1196C>A (p.Pro399His) c.1151C>A (p.Pro384His) n.290-1493C>A c.1130C>A (p.Pro377His) c.*598C>A (n.*598C>A) c.719C>A (p.Pro240His) c.602C>A (p.Pro201His) | |
| 8 | g.27463248G>A | CA370809218 | CHRNA2 | c.1195C>T (p.Pro399Ser) c.1150C>T (p.Pro384Ser) n.290-1494C>T c.1129C>T (p.Pro377Ser) c.*597C>T (n.*597C>T) c.718C>T (p.Pro240Ser) c.601C>T (p.Pro201Ser) | |
| 8 | g.27463248G>C | CA370809219 | CHRNA2 | c.1195C>G (p.Pro399Ala) c.1150C>G (p.Pro384Ala) n.290-1494C>G c.1129C>G (p.Pro377Ala) c.*597C>G (n.*597C>G) c.718C>G (p.Pro240Ala) c.601C>G (p.Pro201Ala) | |
| 8 | g.27463248G>T | CA370809221 | CHRNA2 | c.1195C>A (p.Pro399Thr) c.1150C>A (p.Pro384Thr) n.290-1494C>A c.1129C>A (p.Pro377Thr) c.*597C>A (n.*597C>A) c.718C>A (p.Pro240Thr) c.601C>A (p.Pro201Thr) | |
| 8 | g.27463249G>A | CA460186284 | CHRNA2 | c.1194C>T (p.Ser398=) c.1149C>T (p.Ser383=) n.290-1495C>T c.1128C>T (p.Ser376=) c.*596C>T (n.*596C>T) c.717C>T (p.Ser239=) c.600C>T (p.Ser200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463249G>C | CA370809222 | CHRNA2 | c.1194C>G (p.Ser398Arg) c.1149C>G (p.Ser383Arg) n.290-1495C>G c.1128C>G (p.Ser376Arg) c.*596C>G (n.*596C>G) c.717C>G (p.Ser239Arg) c.600C>G (p.Ser200Arg) | |
| 8 | g.27463249G= | CA1772813717 | CHRNA2 | c.1194C= (p.Ser398=) c.1149C= (p.Ser383=) n.290-1495C= c.1128C= (p.Ser376=) c.*596C= (n.*596C=) c.717C= (p.Ser239=) c.600C= (p.Ser200=) | |
| 8 | g.27463249G>T | CA370809224 | CHRNA2 | c.1194C>A (p.Ser398Arg) c.1149C>A (p.Ser383Arg) n.290-1495C>A c.1128C>A (p.Ser376Arg) c.*596C>A (n.*596C>A) c.717C>A (p.Ser239Arg) c.600C>A (p.Ser200Arg) | gnomAD v4 |
| 8 | g.27463250C>A | CA370809228 | CHRNA2 | c.1193G>T (p.Ser398Ile) c.1148G>T (p.Ser383Ile) n.290-1496G>T c.1127G>T (p.Ser376Ile) c.*595G>T (n.*595G>T) c.716G>T (p.Ser239Ile) c.599G>T (p.Ser200Ile) | gnomAD v4 |
| 8 | g.27463250C>G | CA370809227 | CHRNA2 | c.1193G>C (p.Ser398Thr) c.1148G>C (p.Ser383Thr) n.290-1496G>C c.1127G>C (p.Ser376Thr) c.*595G>C (n.*595G>C) c.716G>C (p.Ser239Thr) c.599G>C (p.Ser200Thr) | |
| 8 | g.27463250C>T | CA370809226 | CHRNA2 | c.1193G>A (p.Ser398Asn) c.1148G>A (p.Ser383Asn) n.290-1496G>A c.1127G>A (p.Ser376Asn) c.*595G>A (n.*595G>A) c.716G>A (p.Ser239Asn) c.599G>A (p.Ser200Asn) | |
| 8 | g.27463251T>A | CA370809231 | CHRNA2 | c.1192A>T (p.Ser398Cys) c.1147A>T (p.Ser383Cys) n.290-1497A>T c.1126A>T (p.Ser376Cys) c.*594A>T (n.*594A>T) c.715A>T (p.Ser239Cys) c.598A>T (p.Ser200Cys) | |
| 8 | g.27463251T>C | CA370809230 | CHRNA2 | c.1192A>G (p.Ser398Gly) c.1147A>G (p.Ser383Gly) n.290-1497A>G c.1126A>G (p.Ser376Gly) c.*594A>G (n.*594A>G) c.715A>G (p.Ser239Gly) c.598A>G (p.Ser200Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463251T>G | CA370809233 | CHRNA2 | c.1192A>C (p.Ser398Arg) c.1147A>C (p.Ser383Arg) n.290-1497A>C c.1126A>C (p.Ser376Arg) c.*594A>C (n.*594A>C) c.715A>C (p.Ser239Arg) c.598A>C (p.Ser200Arg) | |
| 8 | g.27463251T= | CA1772813721 | CHRNA2 | c.1192A= (p.Ser398=) c.1147A= (p.Ser383=) n.290-1497A= c.1126A= (p.Ser376=) c.*594A= (n.*594A=) c.715A= (p.Ser239=) c.598A= (p.Ser200=) | |
| 8 | g.27463252G>A | CA460186292 | CHRNA2 | c.1191C>T (p.Leu397=) c.1146C>T (p.Leu382=) n.290-1498C>T c.1125C>T (p.Leu375=) c.*593C>T (n.*593C>T) c.714C>T (p.Leu238=) c.597C>T (p.Leu199=) | gnomAD v4 |
| 8 | g.27463252G>C | CA460186293 | CHRNA2 | c.1191C>G (p.Leu397=) c.1146C>G (p.Leu382=) n.290-1498C>G c.1125C>G (p.Leu375=) c.*593C>G (n.*593C>G) c.714C>G (p.Leu238=) c.597C>G (p.Leu199=) | |
| 8 | g.27463252G>T | CA460186295 | CHRNA2 | c.1191C>A (p.Leu397=) c.1146C>A (p.Leu382=) n.290-1498C>A c.1125C>A (p.Leu375=) c.*593C>A (n.*593C>A) c.714C>A (p.Leu238=) c.597C>A (p.Leu199=) | |
| 8 | g.27463253A= | CA1772813724 | CHRNA2 | c.1190T= (p.Leu397=) c.1145T= (p.Leu382=) n.290-1499T= c.1124T= (p.Leu375=) c.*592T= (n.*592T=) c.713T= (p.Leu238=) c.596T= (p.Leu199=) | |
| 8 | g.27463253A>C | CA370809234 | CHRNA2 | c.1190T>G (p.Leu397Arg) c.1145T>G (p.Leu382Arg) n.290-1499T>G c.1124T>G (p.Leu375Arg) c.*592T>G (n.*592T>G) c.713T>G (p.Leu238Arg) c.596T>G (p.Leu199Arg) | |
| 8 | g.27463253A>G | CA370809236 | CHRNA2 | c.1190T>C (p.Leu397Pro) c.1145T>C (p.Leu382Pro) n.290-1499T>C c.1124T>C (p.Leu375Pro) c.*592T>C (n.*592T>C) c.713T>C (p.Leu238Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
| 8 | g.27463253A>T | CA370809237 | CHRNA2 | c.1190T>A (p.Leu397His) c.1145T>A (p.Leu382His) n.290-1499T>A c.1124T>A (p.Leu375His) c.*592T>A (n.*592T>A) c.713T>A (p.Leu238His) c.596T>A (p.Leu199His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463254G>A | CA370809238 | CHRNA2 | c.1189C>T (p.Leu397Phe) c.1144C>T (p.Leu382Phe) n.290-1500C>T c.1123C>T (p.Leu375Phe) c.*591C>T (n.*591C>T) c.712C>T (p.Leu238Phe) c.595C>T (p.Leu199Phe) | dbSNP |
| 8 | g.27463254G>C | CA370809240 | CHRNA2 | c.1189C>G (p.Leu397Val) c.1144C>G (p.Leu382Val) n.290-1500C>G c.1123C>G (p.Leu375Val) c.*591C>G (n.*591C>G) c.712C>G (p.Leu238Val) c.595C>G (p.Leu199Val) | |
| 8 | g.27463254G= | CA1772813726 | CHRNA2 | c.1189C= (p.Leu397=) c.1144C= (p.Leu382=) n.290-1500C= c.1123C= (p.Leu375=) c.*591C= (n.*591C=) c.712C= (p.Leu238=) c.595C= (p.Leu199=) | |
| 8 | g.27463254G>T | CA370809241 | CHRNA2 | c.1189C>A (p.Leu397Ile) c.1144C>A (p.Leu382Ile) n.290-1500C>A c.1123C>A (p.Leu375Ile) c.*591C>A (n.*591C>A) c.712C>A (p.Leu238Ile) c.595C>A (p.Leu199Ile) | |
| 8 | g.27463255C>A | CA370809243 | CHRNA2 | c.1188G>T (p.Lys396Asn) c.1143G>T (p.Lys381Asn) n.290-1501G>T c.1122G>T (p.Lys374Asn) c.*590G>T (n.*590G>T) c.711G>T (p.Lys237Asn) c.594G>T (p.Lys198Asn) | gnomAD v4 |
| 8 | g.27463255C= | CA1772813728 | CHRNA2 | c.1188G= (p.Lys396=) c.1143G= (p.Lys381=) n.290-1501G= c.1122G= (p.Lys374=) c.*590G= (n.*590G=) c.711G= (p.Lys237=) c.594G= (p.Lys198=) | |
| 8 | g.27463255C>G | CA370809245 | CHRNA2 | c.1188G>C (p.Lys396Asn) c.1143G>C (p.Lys381Asn) n.290-1501G>C c.1122G>C (p.Lys374Asn) c.*590G>C (n.*590G>C) c.711G>C (p.Lys237Asn) c.594G>C (p.Lys198Asn) | |
| 8 | g.27463255C>T | CA460186300 | CHRNA2 | c.1188G>A (p.Lys396=) c.1143G>A (p.Lys381=) n.290-1501G>A c.1122G>A (p.Lys374=) c.*590G>A (n.*590G>A) c.711G>A (p.Lys237=) c.594G>A (p.Lys198=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463256T>A | CA370809246 | CHRNA2 | c.1187A>T (p.Lys396Met) c.1142A>T (p.Lys381Met) n.290-1502A>T c.1121A>T (p.Lys374Met) c.*589A>T (n.*589A>T) c.710A>T (p.Lys237Met) c.593A>T (p.Lys198Met) | |
| 8 | g.27463256T>C | CA370809247 | CHRNA2 | c.1187A>G (p.Lys396Arg) c.1142A>G (p.Lys381Arg) n.290-1502A>G c.1121A>G (p.Lys374Arg) c.*589A>G (n.*589A>G) c.710A>G (p.Lys237Arg) c.593A>G (p.Lys198Arg) | gnomAD v4 |
| 8 | g.27463256T>G | CA370809248 | CHRNA2 | c.1187A>C (p.Lys396Thr) c.1142A>C (p.Lys381Thr) n.290-1502A>C c.1121A>C (p.Lys374Thr) c.*589A>C (n.*589A>C) c.710A>C (p.Lys237Thr) c.593A>C (p.Lys198Thr) | |
| 8 | g.27463257T>A | CA370809252 | CHRNA2 | c.1186A>T (p.Lys396Ter) c.1141A>T (p.Lys381Ter) n.290-1503A>T c.1120A>T (p.Lys374Ter) c.*588A>T (n.*588A>T) c.709A>T (p.Lys237Ter) c.592A>T (p.Lys198Ter) | |
| 8 | g.27463257T>C | CA370809251 | CHRNA2 | c.1186A>G (p.Lys396Glu) c.1141A>G (p.Lys381Glu) n.290-1503A>G c.1120A>G (p.Lys374Glu) c.*588A>G (n.*588A>G) c.709A>G (p.Lys237Glu) c.592A>G (p.Lys198Glu) | |
| 8 | g.27463257T>G | CA370809250 | CHRNA2 | c.1186A>C (p.Lys396Gln) c.1141A>C (p.Lys381Gln) n.290-1503A>C c.1120A>C (p.Lys374Gln) c.*588A>C (n.*588A>C) c.709A>C (p.Lys237Gln) c.592A>C (p.Lys198Gln) | |
| 8 | g.27463258C>A | CA460186302 | CHRNA2 | c.1185G>T (p.Leu395=) c.1140G>T (p.Leu380=) n.290-1504G>T c.1119G>T (p.Leu373=) c.*587G>T (n.*587G>T) c.708G>T (p.Leu236=) c.591G>T (p.Leu197=) | |
| 8 | g.27463258C>G | CA460186304 | CHRNA2 | c.1185G>C (p.Leu395=) c.1140G>C (p.Leu380=) n.290-1504G>C c.1119G>C (p.Leu373=) c.*587G>C (n.*587G>C) c.708G>C (p.Leu236=) c.591G>C (p.Leu197=) | |
| 8 | g.27463258C>T | CA460186308 | CHRNA2 | c.1185G>A (p.Leu395=) c.1140G>A (p.Leu380=) n.290-1504G>A c.1119G>A (p.Leu373=) c.*587G>A (n.*587G>A) c.708G>A (p.Leu236=) c.591G>A (p.Leu197=) | |
| 8 | g.27463259A>C | CA370809253 | CHRNA2 | c.1184T>G (p.Leu395Arg) c.1139T>G (p.Leu380Arg) n.290-1505T>G c.1118T>G (p.Leu373Arg) c.*586T>G (n.*586T>G) c.707T>G (p.Leu236Arg) c.590T>G (p.Leu197Arg) | |
| 8 | g.27463259A>G | CA370809255 | CHRNA2 | c.1184T>C (p.Leu395Pro) c.1139T>C (p.Leu380Pro) n.290-1505T>C c.1118T>C (p.Leu373Pro) c.*586T>C (n.*586T>C) c.707T>C (p.Leu236Pro) c.590T>C (p.Leu197Pro) | gnomAD v4 |
| 8 | g.27463259A>T | CA370809256 | CHRNA2 | c.1184T>A (p.Leu395Gln) c.1139T>A (p.Leu380Gln) n.290-1505T>A c.1118T>A (p.Leu373Gln) c.*586T>A (n.*586T>A) c.707T>A (p.Leu236Gln) c.590T>A (p.Leu197Gln) | |
| 8 | g.27463260G>A | CA460186310 | CHRNA2 | c.1183C>T (p.Leu395=) c.1138C>T (p.Leu380=) n.290-1506C>T c.1117C>T (p.Leu373=) c.*585C>T (n.*585C>T) c.706C>T (p.Leu236=) c.589C>T (p.Leu197=) | |
| 8 | g.27463260G>C | CA370809258 | CHRNA2 | c.1183C>G (p.Leu395Val) c.1138C>G (p.Leu380Val) n.290-1506C>G c.1117C>G (p.Leu373Val) c.*585C>G (n.*585C>G) c.706C>G (p.Leu236Val) c.589C>G (p.Leu197Val) | |
| 8 | g.27463260G>T | CA370809259 | CHRNA2 | c.1183C>A (p.Leu395Met) c.1138C>A (p.Leu380Met) n.290-1506C>A c.1117C>A (p.Leu373Met) c.*585C>A (n.*585C>A) c.706C>A (p.Leu236Met) c.589C>A (p.Leu197Met) | |
| 8 | g.27463261G>A | CA4689505 | CHRNA2 | c.1182C>T (p.Arg394=) c.1137C>T (p.Arg379=) n.290-1507C>T c.1116C>T (p.Arg372=) c.*584C>T (n.*584C>T) c.705C>T (p.Arg235=) c.588C>T (p.Arg196=) | dbSNP ExAC gnomAD v4 |
| 8 | g.27463261G>C | CA460186312 | CHRNA2 | c.1182C>G (p.Arg394=) c.1137C>G (p.Arg379=) n.290-1507C>G c.1116C>G (p.Arg372=) c.*584C>G (n.*584C>G) c.705C>G (p.Arg235=) c.588C>G (p.Arg196=) | |
| 8 | g.27463261G= | CA1772813732 | CHRNA2 | c.1182C= (p.Arg394=) c.1137C= (p.Arg379=) n.290-1507C= c.1116C= (p.Arg372=) c.*584C= (n.*584C=) c.705C= (p.Arg235=) c.588C= (p.Arg196=) | |
| 8 | g.27463261G>T | CA460186313 | CHRNA2 | c.1182C>A (p.Arg394=) c.1137C>A (p.Arg379=) n.290-1507C>A c.1116C>A (p.Arg372=) c.*584C>A (n.*584C>A) c.705C>A (p.Arg235=) c.588C>A (p.Arg196=) | |
| 8 | g.27463262C>A | CA370809260 | CHRNA2 | c.1181G>T (p.Arg394Leu) c.1136G>T (p.Arg379Leu) n.290-1508G>T c.1115G>T (p.Arg372Leu) c.*583G>T (n.*583G>T) c.704G>T (p.Arg235Leu) c.587G>T (p.Arg196Leu) | gnomAD v4 |
| 8 | g.27463262C= | CA1772813738 | CHRNA2 | c.1181G= (p.Arg394=) c.1136G= (p.Arg379=) n.290-1508G= c.1115G= (p.Arg372=) c.*583G= (n.*583G=) c.704G= (p.Arg235=) c.587G= (p.Arg196=) | |
| 8 | g.27463262C>G | CA313417 | CHRNA2 | c.1181G>C (p.Arg394Pro) c.1136G>C (p.Arg379Pro) n.290-1508G>C c.1115G>C (p.Arg372Pro) c.*583G>C (n.*583G>C) c.704G>C (p.Arg235Pro) c.587G>C (p.Arg196Pro) | ClinVar dbSNP |
| 8 | g.27463262C>T | CA4689506 | CHRNA2 | c.1181G>A (p.Arg394His) c.1136G>A (p.Arg379His) n.290-1508G>A c.1115G>A (p.Arg372His) c.*583G>A (n.*583G>A) c.704G>A (p.Arg235His) c.587G>A (p.Arg196His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463263G>A | CA16612305 | CHRNA2 | c.1180C>T (p.Arg394Cys) c.1135C>T (p.Arg379Cys) n.290-1509C>T c.1114C>T (p.Arg372Cys) c.*582C>T (n.*582C>T) c.703C>T (p.Arg235Cys) c.586C>T (p.Arg196Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463263G>C | CA370809262 | CHRNA2 | c.1180C>G (p.Arg394Gly) c.1135C>G (p.Arg379Gly) n.290-1509C>G c.1114C>G (p.Arg372Gly) c.*582C>G (n.*582C>G) c.703C>G (p.Arg235Gly) c.586C>G (p.Arg196Gly) | |
| 8 | g.27463263G= | CA1772813747 | CHRNA2 | c.1180C= (p.Arg394=) c.1135C= (p.Arg379=) n.290-1509C= c.1114C= (p.Arg372=) c.*582C= (n.*582C=) c.703C= (p.Arg235=) c.586C= (p.Arg196=) | |
| 8 | g.27463263G>T | CA370809264 | CHRNA2 | c.1180C>A (p.Arg394Ser) c.1135C>A (p.Arg379Ser) n.290-1509C>A c.1114C>A (p.Arg372Ser) c.*582C>A (n.*582C>A) c.703C>A (p.Arg235Ser) c.586C>A (p.Arg196Ser) | gnomAD v4 |
| 8 | g.27463264T>A | CA460186321 | CHRNA2 | c.1179A>T (p.Leu393=) c.1134A>T (p.Leu378=) n.290-1510A>T c.1113A>T (p.Leu371=) c.*581A>T (n.*581A>T) c.702A>T (p.Leu234=) c.585A>T (p.Leu195=) | |
| 8 | g.27463264T>C | CA460186320 | CHRNA2 | c.1179A>G (p.Leu393=) c.1134A>G (p.Leu378=) n.290-1510A>G c.1113A>G (p.Leu371=) c.*581A>G (n.*581A>G) c.702A>G (p.Leu234=) c.585A>G (p.Leu195=) | |
| 8 | g.27463264T>G | CA460186319 | CHRNA2 | c.1179A>C (p.Leu393=) c.1134A>C (p.Leu378=) n.290-1510A>C c.1113A>C (p.Leu371=) c.*581A>C (n.*581A>C) c.702A>C (p.Leu234=) c.585A>C (p.Leu195=) | dbSNP |
| 8 | g.27463264T= | CA1772813752 | CHRNA2 | c.1179A= (p.Leu393=) c.1134A= (p.Leu378=) n.290-1510A= c.1113A= (p.Leu371=) c.*581A= (n.*581A=) c.702A= (p.Leu234=) c.585A= (p.Leu195=) | |
| 8 | g.27463265A>C | CA370809267 | CHRNA2 | c.1178T>G (p.Leu393Arg) c.1133T>G (p.Leu378Arg) n.290-1511T>G c.1112T>G (p.Leu371Arg) c.*580T>G (n.*580T>G) c.701T>G (p.Leu234Arg) c.584T>G (p.Leu195Arg) | |
| 8 | g.27463265A>G | CA370809268 | CHRNA2 | c.1178T>C (p.Leu393Pro) c.1133T>C (p.Leu378Pro) n.290-1511T>C c.1112T>C (p.Leu371Pro) c.*580T>C (n.*580T>C) c.701T>C (p.Leu234Pro) c.584T>C (p.Leu195Pro) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463265A>T | CA370809265 | CHRNA2 | c.1178T>A (p.Leu393Gln) c.1133T>A (p.Leu378Gln) n.290-1511T>A c.1112T>A (p.Leu371Gln) c.*580T>A (n.*580T>A) c.701T>A (p.Leu234Gln) c.584T>A (p.Leu195Gln) | |
| 8 | g.27463266G>A | CA460186328 | CHRNA2 | c.1177C>T (p.Leu393=) c.1132C>T (p.Leu378=) n.290-1512C>T c.1111C>T (p.Leu371=) c.*579C>T (n.*579C>T) c.700C>T (p.Leu234=) c.583C>T (p.Leu195=) | |
| 8 | g.27463266G>C | CA370809270 | CHRNA2 | c.1177C>G (p.Leu393Val) c.1132C>G (p.Leu378Val) n.290-1512C>G c.1111C>G (p.Leu371Val) c.*579C>G (n.*579C>G) c.700C>G (p.Leu234Val) c.583C>G (p.Leu195Val) | gnomAD v4 |
| 8 | g.27463266G>T | CA370809271 | CHRNA2 | c.1177C>A (p.Leu393Ile) c.1132C>A (p.Leu378Ile) n.290-1512C>A c.1111C>A (p.Leu371Ile) c.*579C>A (n.*579C>A) c.700C>A (p.Leu234Ile) c.583C>A (p.Leu195Ile) | |
| 8 | g.27463270del | CA2686678223 | CHRNA2 | c.1177del (p.Leu393TyrfsTer3) c.1132del (p.Leu378TyrfsTer3) n.290-1512del c.1111del (p.Leu371TyrfsTer3) c.*579del (n.*579del) c.700del (p.Leu234TyrfsTer3) c.583del (p.Leu195TyrfsTer3) | gnomAD v4 |
| 8 | g.27463267G>A | CA4689507 | CHRNA2 | c.1176C>T (p.Pro392=) c.1131C>T (p.Pro377=) n.290-1513C>T c.1110C>T (p.Pro370=) c.*578C>T (n.*578C>T) c.699C>T (p.Pro233=) c.582C>T (p.Pro194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463267G>C | CA460186330 | CHRNA2 | c.1176C>G (p.Pro392=) c.1131C>G (p.Pro377=) n.290-1513C>G c.1110C>G (p.Pro370=) c.*578C>G (n.*578C>G) c.699C>G (p.Pro233=) c.582C>G (p.Pro194=) | gnomAD v4 |
| 8 | g.27463267G= | CA1772813757 | CHRNA2 | c.1176C= (p.Pro392=) c.1131C= (p.Pro377=) n.290-1513C= c.1110C= (p.Pro370=) c.*578C= (n.*578C=) c.699C= (p.Pro233=) c.582C= (p.Pro194=) | |
| 8 | g.27463267G>T | CA4689508 | CHRNA2 | c.1176C>A (p.Pro392=) c.1131C>A (p.Pro377=) n.290-1513C>A c.1110C>A (p.Pro370=) c.*578C>A (n.*578C>A) c.699C>A (p.Pro233=) c.582C>A (p.Pro194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463268G>A | CA370809274 | CHRNA2 | c.1175C>T (p.Pro392Leu) c.1130C>T (p.Pro377Leu) n.290-1514C>T c.1109C>T (p.Pro370Leu) c.*577C>T (n.*577C>T) c.698C>T (p.Pro233Leu) c.581C>T (p.Pro194Leu) | |
| 8 | g.27463268G>C | CA174241469 | CHRNA2 | c.1175C>G (p.Pro392Arg) c.1130C>G (p.Pro377Arg) n.290-1514C>G c.1109C>G (p.Pro370Arg) c.*577C>G (n.*577C>G) c.698C>G (p.Pro233Arg) c.581C>G (p.Pro194Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463268G= | CA1772813761 | CHRNA2 | c.1175C= (p.Pro392=) c.1130C= (p.Pro377=) n.290-1514C= c.1109C= (p.Pro370=) c.*577C= (n.*577C=) c.698C= (p.Pro233=) c.581C= (p.Pro194=) | |
| 8 | g.27463268G>T | CA370809275 | CHRNA2 | c.1175C>A (p.Pro392His) c.1130C>A (p.Pro377His) n.290-1514C>A c.1109C>A (p.Pro370His) c.*577C>A (n.*577C>A) c.698C>A (p.Pro233His) c.581C>A (p.Pro194His) | dbSNP |
| 8 | g.27463269G>A | CA4689509 | CHRNA2 | c.1174C>T (p.Pro392Ser) c.1129C>T (p.Pro377Ser) n.290-1515C>T c.1108C>T (p.Pro370Ser) c.*576C>T (n.*576C>T) c.697C>T (p.Pro233Ser) c.580C>T (p.Pro194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463269G>C | CA370809278 | CHRNA2 | c.1174C>G (p.Pro392Ala) c.1129C>G (p.Pro377Ala) n.290-1515C>G c.1108C>G (p.Pro370Ala) c.*576C>G (n.*576C>G) c.697C>G (p.Pro233Ala) c.580C>G (p.Pro194Ala) | ClinVar dbSNP |
| 8 | g.27463269G= | CA1772813769 | CHRNA2 | c.1174C= (p.Pro392=) c.1129C= (p.Pro377=) n.290-1515C= c.1108C= (p.Pro370=) c.*576C= (n.*576C=) c.697C= (p.Pro233=) c.580C= (p.Pro194=) | |
| 8 | g.27463269G>T | CA370809279 | CHRNA2 | c.1174C>A (p.Pro392Thr) c.1129C>A (p.Pro377Thr) n.290-1515C>A c.1108C>A (p.Pro370Thr) c.*576C>A (n.*576C>A) c.697C>A (p.Pro233Thr) c.580C>A (p.Pro194Thr) | |
| 8 | g.27463269_27463270insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG | CA580954954 | CHRNA2 | c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro392ArgfsTer5) c.1129_1130insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro377ArgfsTer5) n.290-1515_290-1514insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC c.1108_1109insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro370ArgfsTer5) c.*576_*577insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (n.*576_*577insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC) c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro233ArgfsTer5) c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro194ArgfsTer5) | dbSNP gnomAD v2 |
| 8 | g.27463270G>A | CA4689510 | CHRNA2 | c.1173C>T (p.His391=) c.1128C>T (p.His376=) n.290-1516C>T c.1107C>T (p.His369=) c.*575C>T (n.*575C>T) c.696C>T (p.His232=) c.579C>T (p.His193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463270G>C | CA370809281 | CHRNA2 | c.1173C>G (p.His391Gln) c.1128C>G (p.His376Gln) n.290-1516C>G c.1107C>G (p.His369Gln) c.*575C>G (n.*575C>G) c.696C>G (p.His232Gln) c.579C>G (p.His193Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463270G= | CA1772813775 | CHRNA2 | c.1173C= (p.His391=) c.1128C= (p.His376=) n.290-1516C= c.1107C= (p.His369=) c.*575C= (n.*575C=) c.696C= (p.His232=) c.579C= (p.His193=) | |
| 8 | g.27463270G>T | CA4689511 | CHRNA2 | c.1173C>A (p.His391Gln) c.1128C>A (p.His376Gln) n.290-1516C>A c.1107C>A (p.His369Gln) c.*575C>A (n.*575C>A) c.696C>A (p.His232Gln) c.579C>A (p.His193Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463271T>A | CA370809287 | CHRNA2 | c.1172A>T (p.His391Leu) c.1127A>T (p.His376Leu) n.290-1517A>T c.1106A>T (p.His369Leu) c.*574A>T (n.*574A>T) c.695A>T (p.His232Leu) c.578A>T (p.His193Leu) | |
| 8 | g.27463271T>C | CA370809285 | CHRNA2 | c.1172A>G (p.His391Arg) c.1127A>G (p.His376Arg) n.290-1517A>G c.1106A>G (p.His369Arg) c.*574A>G (n.*574A>G) c.695A>G (p.His232Arg) c.578A>G (p.His193Arg) | dbSNP |
| 8 | g.27463271T>G | CA370809284 | CHRNA2 | c.1172A>C (p.His391Pro) c.1127A>C (p.His376Pro) n.290-1517A>C c.1106A>C (p.His369Pro) c.*574A>C (n.*574A>C) c.695A>C (p.His232Pro) c.578A>C (p.His193Pro) | dbSNP |
| 8 | g.27463271T= | CA1772813780 | CHRNA2 | c.1172A= (p.His391=) c.1127A= (p.His376=) n.290-1517A= c.1106A= (p.His369=) c.*574A= (n.*574A=) c.695A= (p.His232=) c.578A= (p.His193=) | |
| 8 | g.27463272G>A | CA370809288 | CHRNA2 | c.1171C>T (p.His391Tyr) c.1126C>T (p.His376Tyr) n.290-1518C>T c.1105C>T (p.His369Tyr) c.*573C>T (n.*573C>T) c.694C>T (p.His232Tyr) c.577C>T (p.His193Tyr) | |
| 8 | g.27463272G>C | CA370809289 | CHRNA2 | c.1171C>G (p.His391Asp) c.1126C>G (p.His376Asp) n.290-1518C>G c.1105C>G (p.His369Asp) c.*573C>G (n.*573C>G) c.694C>G (p.His232Asp) c.577C>G (p.His193Asp) | |
| 8 | g.27463272G>T | CA370809291 | CHRNA2 | c.1171C>A (p.His391Asn) c.1126C>A (p.His376Asn) n.290-1518C>A c.1105C>A (p.His369Asn) c.*573C>A (n.*573C>A) c.694C>A (p.His232Asn) c.577C>A (p.His193Asn) | |
| 8 | g.27463273G>A | CA460186335 | CHRNA2 | c.1170C>T (p.Cys390=) c.1125C>T (p.Cys375=) n.290-1519C>T c.1104C>T (p.Cys368=) c.*572C>T (n.*572C>T) c.693C>T (p.Cys231=) c.576C>T (p.Cys192=) | gnomAD v4 |
| 8 | g.27463273G>C | CA370809292 | CHRNA2 | c.1170C>G (p.Cys390Trp) c.1125C>G (p.Cys375Trp) n.290-1519C>G c.1104C>G (p.Cys368Trp) c.*572C>G (n.*572C>G) c.693C>G (p.Cys231Trp) c.576C>G (p.Cys192Trp) | |
| 8 | g.27463273G>T | CA370809294 | CHRNA2 | c.1170C>A (p.Cys390Ter) c.1125C>A (p.Cys375Ter) n.290-1519C>A c.1104C>A (p.Cys368Ter) c.*572C>A (n.*572C>A) c.693C>A (p.Cys231Ter) c.576C>A (p.Cys192Ter) |