| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4933751_4933934delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG | CA2244625701 | CHRNE,GP1BA | c.1147_1330delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Thr383=) c.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT (n.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT) c.1147_1273-21delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG | |
| 17 | g.4933756_4933938del | CA980971795 | CHRNE,GP1BA | c.1152_1334del (p.Ser385_Pro445del) c.-888+408_-888+590del (n.-888+408_-888+590del) c.1152_1273-17del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933753_4933819delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT | CA2244625703 | CHRNE,GP1BA | c.1149_1215delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT (p.Thr383=) c.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG (n.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG) | |
| 17 | g.4933769_4933834del | CA624856137 | CHRNE,GP1BA | c.1165_1230del (p.Ser389_Thr410del) c.-888+523_-888+588del (n.-888+523_-888+588del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933763_4933919delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC | CA2244625710 | CHRNE,GP1BA | c.1159_1315delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC (p.Thr387=) c.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT (n.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT) c.1159_1273-36delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC | |
| 17 | g.4933779_4933934del | CA980971820 | CHRNE,GP1BA | c.1175_1330del (p.Val392_Pro443del) c.-888+423_-888+578del (n.-888+423_-888+578del) c.1175_1273-21del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933782C>A | CA397320387 | CHRNE,GP1BA | c.1178C>A (p.Pro393Gln) c.-888+560G>T (n.-888+560G>T) | |
| 17 | g.4933782C= | CA2244625716 | CHRNE,GP1BA | c.1178C= (p.Pro393=) c.-888+560G= (n.-888+560G=) | |
| 17 | g.4933782C>G | CA397320388 | CHRNE,GP1BA | c.1178C>G (p.Pro393Arg) c.-888+560G>C (n.-888+560G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933782C>T | CA8314917 | CHRNE,GP1BA | c.1178C>T (p.Pro393Leu) c.-888+560G>A (n.-888+560G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933783G>A | CA8314918 | CHRNE,GP1BA | c.1179G>A (p.Pro393=) c.-888+559C>T (n.-888+559C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933783G>C | CA497677730 | CHRNE,GP1BA | c.1179G>C (p.Pro393=) c.-888+559C>G (n.-888+559C>G) | |
| 17 | g.4933783G= | CA2244625717 | CHRNE,GP1BA | c.1179G= (p.Pro393=) c.-888+559C= (n.-888+559C=) | |
| 17 | g.4933783G>T | CA497677731 | CHRNE,GP1BA | c.1179G>T (p.Pro393=) c.-888+559C>A (n.-888+559C>A) | |
| 17 | g.4933784G>A | CA397320389 | CHRNE,GP1BA | c.1180G>A (p.Glu394Lys) c.-888+558C>T (n.-888+558C>T) | |
| 17 | g.4933784G>C | CA397320390 | CHRNE,GP1BA | c.1180G>C (p.Glu394Gln) c.-888+558C>G (n.-888+558C>G) | |
| 17 | g.4933784G>T | CA397320391 | CHRNE,GP1BA | c.1180G>T (p.Glu394Ter) c.-888+558C>A (n.-888+558C>A) | |
| 17 | g.4933795_4933860del | CA2635579011 | CHRNE,GP1BA | c.1191_1256del (p.Asn398_Pro419del) c.-888+493_-888+558del (n.-888+493_-888+558del) | gnomAD v4 |
| 17 | g.4933785A>C | CA397320396 | CHRNE,GP1BA | c.1181A>C (p.Glu394Ala) c.-888+557T>G (n.-888+557T>G) | |
| 17 | g.4933785A>G | CA397320395 | CHRNE,GP1BA | c.1181A>G (p.Glu394Gly) c.-888+557T>C (n.-888+557T>C) | |
| 17 | g.4933785A>T | CA397320393 | CHRNE,GP1BA | c.1181A>T (p.Glu394Val) c.-888+557T>A (n.-888+557T>A) | gnomAD v4 |
| 17 | g.4933786G>A | CA497677732 | CHRNE,GP1BA | c.1182G>A (p.Glu394=) c.-888+556C>T (n.-888+556C>T) | gnomAD v4 |
| 17 | g.4933786G>C | CA397320398 | CHRNE,GP1BA | c.1182G>C (p.Glu394Asp) c.-888+556C>G (n.-888+556C>G) | |
| 17 | g.4933786G= | CA2244625718 | CHRNE,GP1BA | c.1182G= (p.Glu394=) c.-888+556C= (n.-888+556C=) | |
| 17 | g.4933786G>T | CA397320400 | CHRNE,GP1BA | c.1182G>T (p.Glu394Asp) c.-888+556C>A (n.-888+556C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933787C>A | CA397320402 | CHRNE,GP1BA | c.1183C>A (p.Pro395Thr) c.-888+555G>T (n.-888+555G>T) | dbSNP |
| 17 | g.4933787C= | CA2244625719 | CHRNE,GP1BA | c.1183C= (p.Pro395=) c.-888+555G= (n.-888+555G=) | |
| 17 | g.4933787C>G | CA397320404 | CHRNE,GP1BA | c.1183C>G (p.Pro395Ala) c.-888+555G>C (n.-888+555G>C) | |
| 17 | g.4933787C>T | CA8314919 | CHRNE,GP1BA | c.1183C>T (p.Pro395Ser) c.-888+555G>A (n.-888+555G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933788C>A | CA397320407 | CHRNE,GP1BA | c.1184C>A (p.Pro395His) c.-888+554G>T (n.-888+554G>T) | |
| 17 | g.4933788C>G | CA397320409 | CHRNE,GP1BA | c.1184C>G (p.Pro395Arg) c.-888+554G>C (n.-888+554G>C) | |
| 17 | g.4933788C>T | CA397320411 | CHRNE,GP1BA | c.1184C>T (p.Pro395Leu) c.-888+554G>A (n.-888+554G>A) | |
| 17 | g.4933789C>A | CA497677734 | CHRNE,GP1BA | c.1185C>A (p.Pro395=) c.-888+553G>T (n.-888+553G>T) | |
| 17 | g.4933789C= | CA2244625720 | CHRNE,GP1BA | c.1185C= (p.Pro395=) c.-888+553G= (n.-888+553G=) | |
| 17 | g.4933789C>G | CA497677733 | CHRNE,GP1BA | c.1185C>G (p.Pro395=) c.-888+553G>C (n.-888+553G>C) | |
| 17 | g.4933789C>T | CA287217077 | CHRNE,GP1BA | c.1185C>T (p.Pro395=) c.-888+553G>A (n.-888+553G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933790G>A | CA8314920 | CHRNE,GP1BA | c.1186G>A (p.Ala396Thr) c.-888+552C>T (n.-888+552C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933790G>C | CA397320414 | CHRNE,GP1BA | c.1186G>C (p.Ala396Pro) c.-888+552C>G (n.-888+552C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933790G= | CA2244625721 | CHRNE,GP1BA | c.1186G= (p.Ala396=) c.-888+552C= (n.-888+552C=) | |
| 17 | g.4933790G>T | CA397320416 | CHRNE,GP1BA | c.1186G>T (p.Ala396Ser) c.-888+552C>A (n.-888+552C>A) | |
| 17 | g.4933791C>A | CA397320419 | CHRNE,GP1BA | c.1187C>A (p.Ala396Asp) c.-888+551G>T (n.-888+551G>T) | |
| 17 | g.4933791C>G | CA397320421 | CHRNE,GP1BA | c.1187C>G (p.Ala396Gly) c.-888+551G>C (n.-888+551G>C) | |
| 17 | g.4933791C>T | CA397320418 | CHRNE,GP1BA | c.1187C>T (p.Ala396Val) c.-888+551G>A (n.-888+551G>A) | |
| 17 | g.4933792C>A | CA497677735 | CHRNE,GP1BA | c.1188C>A (p.Ala396=) c.-888+550G>T (n.-888+550G>T) | |
| 17 | g.4933792C>G | CA497677737 | CHRNE,GP1BA | c.1188C>G (p.Ala396=) c.-888+550G>C (n.-888+550G>C) | |
| 17 | g.4933792C>T | CA497677736 | CHRNE,GP1BA | c.1188C>T (p.Ala396=) c.-888+550G>A (n.-888+550G>A) | gnomAD v4 |
| 17 | g.4933793C>A | CA397320423 | CHRNE,GP1BA | c.1189C>A (p.Pro397Thr) c.-888+549G>T (n.-888+549G>T) | |
| 17 | g.4933793C>G | CA397320425 | CHRNE,GP1BA | c.1189C>G (p.Pro397Ala) c.-888+549G>C (n.-888+549G>C) | |
| 17 | g.4933793C>T | CA397320426 | CHRNE,GP1BA | c.1189C>T (p.Pro397Ser) c.-888+549G>A (n.-888+549G>A) | gnomAD v4 |
| 17 | g.4933797_4933823del | CA2635579012 | CHRNE,GP1BA | c.1193_1219del (p.Asn398_Pro406del) c.-888+523_-888+549del (n.-888+523_-888+549del) | gnomAD v4 |
| 17 | g.4933794C>A | CA397320428 | CHRNE,GP1BA | c.1190C>A (p.Pro397Gln) c.-888+548G>T (n.-888+548G>T) | |
| 17 | g.4933794C= | CA2244625722 | CHRNE,GP1BA | c.1190C= (p.Pro397=) c.-888+548G= (n.-888+548G=) | |
| 17 | g.4933794C>G | CA397320430 | CHRNE,GP1BA | c.1190C>G (p.Pro397Arg) c.-888+548G>C (n.-888+548G>C) | |
| 17 | g.4933794C>T | CA8314921 | CHRNE,GP1BA | c.1190C>T (p.Pro397Leu) c.-888+548G>A (n.-888+548G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933795A>C | CA497677738 | CHRNE,GP1BA | c.1191A>C (p.Pro397=) c.-888+547T>G (n.-888+547T>G) | gnomAD v4 |
| 17 | g.4933795A>G | CA497677739 | CHRNE,GP1BA | c.1191A>G (p.Pro397=) c.-888+547T>C (n.-888+547T>C) | |
| 17 | g.4933795A>T | CA497677740 | CHRNE,GP1BA | c.1191A>T (p.Pro397=) c.-888+547T>A (n.-888+547T>A) | |
| 17 | g.4933795_4933797del | CA2635579014 | CHRNE,GP1BA | c.1191_1193del (p.Asn398del) c.-888+545_-888+547del (n.-888+545_-888+547del) | gnomAD v4 |
| 17 | g.4933796A= | CA2244625723 | CHRNE,GP1BA | c.1192A= (p.Asn398=) c.-888+546T= (n.-888+546T=) | |
| 17 | g.4933796A>C | CA397320437 | CHRNE,GP1BA | c.1192A>C (p.Asn398His) c.-888+546T>G (n.-888+546T>G) | |
| 17 | g.4933796A>G | CA397320434 | CHRNE,GP1BA | c.1192A>G (p.Asn398Asp) c.-888+546T>C (n.-888+546T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933796A>T | CA397320435 | CHRNE,GP1BA | c.1192A>T (p.Asn398Tyr) c.-888+546T>A (n.-888+546T>A) | |
| 17 | g.4933797A>C | CA397320438 | CHRNE,GP1BA | c.1193A>C (p.Asn398Thr) c.-888+545T>G (n.-888+545T>G) | |
| 17 | g.4933797A>G | CA397320439 | CHRNE,GP1BA | c.1193A>G (p.Asn398Ser) c.-888+545T>C (n.-888+545T>C) | gnomAD v4 |
| 17 | g.4933797A>T | CA397320441 | CHRNE,GP1BA | c.1193A>T (p.Asn398Ile) c.-888+545T>A (n.-888+545T>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4933798C>A | CA397320443 | CHRNE,GP1BA | c.1194C>A (p.Asn398Lys) c.-888+544G>T (n.-888+544G>T) | |
| 17 | g.4933798C= | CA2244625724 | CHRNE,GP1BA | c.1194C= (p.Asn398=) c.-888+544G= (n.-888+544G=) | |
| 17 | g.4933798C>G | CA397320444 | CHRNE,GP1BA | c.1194C>G (p.Asn398Lys) c.-888+544G>C (n.-888+544G>C) | |
| 17 | g.4933798C>T | CA497677741 | CHRNE,GP1BA | c.1194C>T (p.Asn398=) c.-888+544G>A (n.-888+544G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933799A= | CA2244625725 | CHRNE,GP1BA | c.1195A= (p.Met399=) c.-888+543T= (n.-888+543T=) | |
| 17 | g.4933799A>C | CA397320445 | CHRNE,GP1BA | c.1195A>C (p.Met399Leu) c.-888+543T>G (n.-888+543T>G) | gnomAD v3 gnomAD v4 |
| 17 | g.4933799A>G | CA397320447 | CHRNE,GP1BA | c.1195A>G (p.Met399Val) c.-888+543T>C (n.-888+543T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933799A>T | CA397320446 | CHRNE,GP1BA | c.1195A>T (p.Met399Leu) c.-888+543T>A (n.-888+543T>A) | |
| 17 | g.4933800_4933823del | CA2635579016 | CHRNE,GP1BA | c.1196_1219del (p.Met399_Pro406del) c.-888+520_-888+543del (n.-888+520_-888+543del) | gnomAD v4 |
| 17 | g.4933800T>A | CA397320449 | CHRNE,GP1BA | c.1196T>A (p.Met399Lys) c.-888+542A>T (n.-888+542A>T) | |
| 17 | g.4933800T>C | CA397320451 | CHRNE,GP1BA | c.1196T>C (p.Met399Thr) c.-888+542A>G (n.-888+542A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933800T>G | CA397320453 | CHRNE,GP1BA | c.1196T>G (p.Met399Arg) c.-888+542A>C (n.-888+542A>C) | |
| 17 | g.4933800T= | CA2244625727 | CHRNE,GP1BA | c.1196T= (p.Met399=) c.-888+542A= (n.-888+542A=) | |
| 17 | g.4933800_4933803del | CA2808297125 | CHRNE,GP1BA | c.1196_1199del (p.Met399ThrfsTer?) c.-888+539_-888+542del (n.-888+539_-888+542del) | |
| 17 | g.4933800_4933827delinsTGACCACCCTGGAGCCCACTCCAAGCCC | CA2244625726 | CHRNE,GP1BA | c.1196_1223delinsTGACCACCCTGGAGCCCACTCCAAGCCC (p.Met399=) c.-888+515_-888+542delinsGGGCTTGGAGTGGGCTCCAGGGTGGTCA (n.-888+515_-888+542delinsGGGCTTGGAGTGGGCTCCAGGGTGGTCA) | |
| 17 | g.4933801G>A | CA397320455 | CHRNE,GP1BA | c.1197G>A (p.Met399Ile) c.-888+541C>T (n.-888+541C>T) | gnomAD v4 |
| 17 | g.4933801G>C | CA287217083 | CHRNE,GP1BA | c.1197G>C (p.Met399Ile) c.-888+541C>G (n.-888+541C>G) | dbSNP gnomAD v4 |
| 17 | g.4933801G= | CA2244625728 | CHRNE,GP1BA | c.1197G= (p.Met399=) c.-888+541C= (n.-888+541C=) | |
| 17 | g.4933801G>T | CA397320457 | CHRNE,GP1BA | c.1197G>T (p.Met399Ile) c.-888+541C>A (n.-888+541C>A) | |
| 17 | g.4933809_4933835del | CA624856138 | CHRNE,GP1BA | c.1205_1231del (p.Leu402_Thr410del) c.-888+515_-888+541del (n.-888+515_-888+541del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933809_4933952del | CA980971848 | CHRNE,GP1BA | c.1205_1348del (p.Leu402_Thr449del) c.-888+398_-888+541del (n.-888+398_-888+541del) c.1205_1273-3del | gnomAD v3 gnomAD v4 |
| 17 | g.4933802A>C | CA397320459 | CHRNE,GP1BA | c.1198A>C (p.Thr400Pro) c.-888+540T>G (n.-888+540T>G) | |
| 17 | g.4933802A>G | CA397320461 | CHRNE,GP1BA | c.1198A>G (p.Thr400Ala) c.-888+540T>C (n.-888+540T>C) | |
| 17 | g.4933802A>T | CA397320463 | CHRNE,GP1BA | c.1198A>T (p.Thr400Ser) c.-888+540T>A (n.-888+540T>A) | |
| 17 | g.4933803C>A | CA397320464 | CHRNE,GP1BA | c.1199C>A (p.Thr400Asn) c.-888+539G>T (n.-888+539G>T) | |
| 17 | g.4933803C>G | CA397320466 | CHRNE,GP1BA | c.1199C>G (p.Thr400Ser) c.-888+539G>C (n.-888+539G>C) | |
| 17 | g.4933803C>T | CA397320467 | CHRNE,GP1BA | c.1199C>T (p.Thr400Ile) c.-888+539G>A (n.-888+539G>A) | |
| 17 | g.4933804C>A | CA497677745 | CHRNE,GP1BA | c.1200C>A (p.Thr400=) c.-888+538G>T (n.-888+538G>T) | |
| 17 | g.4933804C>G | CA497677746 | CHRNE,GP1BA | c.1200C>G (p.Thr400=) c.-888+538G>C (n.-888+538G>C) | |
| 17 | g.4933804C>T | CA497677747 | CHRNE,GP1BA | c.1200C>T (p.Thr400=) c.-888+538G>A (n.-888+538G>A) | |
| 17 | g.4933805A>C | CA397320470 | CHRNE,GP1BA | c.1201A>C (p.Thr401Pro) c.-888+537T>G (n.-888+537T>G) | |
| 17 | g.4933805A>G | CA397320471 | CHRNE,GP1BA | c.1201A>G (p.Thr401Ala) c.-888+537T>C (n.-888+537T>C) | |
| 17 | g.4933805A>T | CA397320469 | CHRNE,GP1BA | c.1201A>T (p.Thr401Ser) c.-888+537T>A (n.-888+537T>A) | |
| 17 | g.4933806C>A | CA397320473 | CHRNE,GP1BA | c.1202C>A (p.Thr401Asn) c.-888+536G>T (n.-888+536G>T) | |
| 17 | g.4933806C= | CA2244625729 | CHRNE,GP1BA | c.1202C= (p.Thr401=) c.-888+536G= (n.-888+536G=) | |
| 17 | g.4933806C>G | CA8314922 | CHRNE,GP1BA | c.1202C>G (p.Thr401Ser) c.-888+536G>C (n.-888+536G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933806C>T | CA287217089 | CHRNE,GP1BA | c.1202C>T (p.Thr401Ile) c.-888+536G>A (n.-888+536G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933808del | CA2635579018 | CHRNE,GP1BA | c.1204del (p.Leu402TrpfsTer?) c.-888+536del (n.-888+536del) | gnomAD v4 |
| 17 | g.4933807C>A | CA497677750 | CHRNE,GP1BA | c.1203C>A (p.Thr401=) c.-888+535G>T (n.-888+535G>T) | |
| 17 | g.4933807C>G | CA497677751 | CHRNE,GP1BA | c.1203C>G (p.Thr401=) c.-888+535G>C (n.-888+535G>C) | |
| 17 | g.4933807C>T | CA497677752 | CHRNE,GP1BA | c.1203C>T (p.Thr401=) c.-888+535G>A (n.-888+535G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933808C>A | CA397320475 | CHRNE,GP1BA | c.1204C>A (p.Leu402Met) c.-888+534G>T (n.-888+534G>T) | |
| 17 | g.4933808C>G | CA397320476 | CHRNE,GP1BA | c.1204C>G (p.Leu402Val) c.-888+534G>C (n.-888+534G>C) | |
| 17 | g.4933808C>T | CA497677753 | CHRNE,GP1BA | c.1204C>T (p.Leu402=) c.-888+534G>A (n.-888+534G>A) | |
| 17 | g.4933809T>A | CA397320477 | CHRNE,GP1BA | c.1205T>A (p.Leu402Gln) c.-888+533A>T (n.-888+533A>T) | gnomAD v4 |
| 17 | g.4933809T>C | CA397320478 | CHRNE,GP1BA | c.1205T>C (p.Leu402Pro) c.-888+533A>G (n.-888+533A>G) | dbSNP gnomAD v4 |
| 17 | g.4933809T>G | CA397320479 | CHRNE,GP1BA | c.1205T>G (p.Leu402Arg) c.-888+533A>C (n.-888+533A>C) | gnomAD v4 |
| 17 | g.4933809T= | CA2244625730 | CHRNE,GP1BA | c.1205T= (p.Leu402=) c.-888+533A= (n.-888+533A=) | |
| 17 | g.4933810G>A | CA8314923 | CHRNE,GP1BA | c.1206G>A (p.Leu402=) c.-888+532C>T (n.-888+532C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933810G>C | CA497677757 | CHRNE,GP1BA | c.1206G>C (p.Leu402=) c.-888+532C>G (n.-888+532C>G) | |
| 17 | g.4933810G= | CA2244625731 | CHRNE,GP1BA | c.1206G= (p.Leu402=) c.-888+532C= (n.-888+532C=) | |
| 17 | g.4933810G>T | CA497677758 | CHRNE,GP1BA | c.1206G>T (p.Leu402=) c.-888+532C>A (n.-888+532C>A) | |
| 17 | g.4933810_4933837delinsGGAGCCCACTCCAAGCCCGACCACCCCA | CA2244625732 | CHRNE,GP1BA | c.1206_1233delinsGGAGCCCACTCCAAGCCCGACCACCCCA (p.Leu402=) c.-888+505_-888+532delinsTGGGGTGGTCGGGCTTGGAGTGGGCTCC (n.-888+505_-888+532delinsTGGGGTGGTCGGGCTTGGAGTGGGCTCC) | |
| 17 | g.4933819_4933962del | CA2540613392 | CHRNE,GP1BA | c.1215_1358del (p.Pro406_Thr453del) c.-888+389_-888+532del (n.-888+389_-888+532del) c.1215_1280del | |
| 17 | g.4933811G>A | CA397320480 | CHRNE,GP1BA | c.1207G>A (p.Glu403Lys) c.-888+531C>T (n.-888+531C>T) | |
| 17 | g.4933811G>C | CA397320481 | CHRNE,GP1BA | c.1207G>C (p.Glu403Gln) c.-888+531C>G (n.-888+531C>G) | |
| 17 | g.4933811G>T | CA397320482 | CHRNE,GP1BA | c.1207G>T (p.Glu403Ter) c.-888+531C>A (n.-888+531C>A) | |
| 17 | g.4933819_4933845del | CA919780173 | CHRNE,GP1BA | c.1215_1241del (p.Pro406_Thr414del) c.-888+505_-888+531del (n.-888+505_-888+531del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933817_4933855del | CA2635579019 | CHRNE,GP1BA | c.1213_1251del (p.Thr405_Pro417del) c.-888+493_-888+531del (n.-888+493_-888+531del) | gnomAD v4 |
| 17 | g.4933812A>C | CA397320484 | CHRNE,GP1BA | c.1208A>C (p.Glu403Ala) c.-888+530T>G (n.-888+530T>G) | |
| 17 | g.4933812A>G | CA397320485 | CHRNE,GP1BA | c.1208A>G (p.Glu403Gly) c.-888+530T>C (n.-888+530T>C) | |
| 17 | g.4933812A>T | CA397320486 | CHRNE,GP1BA | c.1208A>T (p.Glu403Val) c.-888+530T>A (n.-888+530T>A) | |
| 17 | g.4933813G>A | CA497677762 | CHRNE,GP1BA | c.1209G>A (p.Glu403=) c.-888+529C>T (n.-888+529C>T) | |
| 17 | g.4933813G>C | CA397320488 | CHRNE,GP1BA | c.1209G>C (p.Glu403Asp) c.-888+529C>G (n.-888+529C>G) | |
| 17 | g.4933813G>T | CA397320489 | CHRNE,GP1BA | c.1209G>T (p.Glu403Asp) c.-888+529C>A (n.-888+529C>A) | |
| 17 | g.4933814C>A | CA397320490 | CHRNE,GP1BA | c.1210C>A (p.Pro404Thr) c.-888+528G>T (n.-888+528G>T) | gnomAD v4 |
| 17 | g.4933814C>G | CA397320491 | CHRNE,GP1BA | c.1210C>G (p.Pro404Ala) c.-888+528G>C (n.-888+528G>C) | |
| 17 | g.4933814C>T | CA397320492 | CHRNE,GP1BA | c.1210C>T (p.Pro404Ser) c.-888+528G>A (n.-888+528G>A) | |
| 17 | g.4933815C>A | CA397320493 | CHRNE,GP1BA | c.1211C>A (p.Pro404His) c.-888+527G>T (n.-888+527G>T) | |
| 17 | g.4933815C= | CA2244625733 | CHRNE,GP1BA | c.1211C= (p.Pro404=) c.-888+527G= (n.-888+527G=) | |
| 17 | g.4933815C>G | CA287217100 | CHRNE,GP1BA | c.1211C>G (p.Pro404Arg) c.-888+527G>C (n.-888+527G>C) | dbSNP |
| 17 | g.4933815C>T | CA397320494 | CHRNE,GP1BA | c.1211C>T (p.Pro404Leu) c.-888+527G>A (n.-888+527G>A) | |
| 17 | g.4933819_4933833del | CA980971859 | CHRNE,GP1BA | c.1215_1229del (p.Pro406_Thr410del) c.-888+513_-888+527del (n.-888+513_-888+527del) | gnomAD v3 gnomAD v4 |
| 17 | g.4933816C>A | CA497677766 | CHRNE,GP1BA | c.1212C>A (p.Pro404=) c.-888+526G>T (n.-888+526G>T) | |
| 17 | g.4933816C>G | CA497677767 | CHRNE,GP1BA | c.1212C>G (p.Pro404=) c.-888+526G>C (n.-888+526G>C) | |
| 17 | g.4933816C>T | CA497677768 | CHRNE,GP1BA | c.1212C>T (p.Pro404=) c.-888+526G>A (n.-888+526G>A) | |
| 17 | g.4933817A= | CA2244625734 | CHRNE,GP1BA | c.1213A= (p.Thr405=) c.-888+525T= (n.-888+525T=) | |
| 17 | g.4933817A>C | CA397320495 | CHRNE,GP1BA | c.1213A>C (p.Thr405Pro) c.-888+525T>G (n.-888+525T>G) | |
| 17 | g.4933817A>G | CA397320496 | CHRNE,GP1BA | c.1213A>G (p.Thr405Ala) c.-888+525T>C (n.-888+525T>C) | |
| 17 | g.4933817A>T | CA287217104 | CHRNE,GP1BA | c.1213A>T (p.Thr405Ser) c.-888+525T>A (n.-888+525T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933818C>A | CA397320497 | CHRNE,GP1BA | c.1214C>A (p.Thr405Asn) c.-888+524G>T (n.-888+524G>T) | |
| 17 | g.4933818C>G | CA397320500 | CHRNE,GP1BA | c.1214C>G (p.Thr405Ser) c.-888+524G>C (n.-888+524G>C) | ClinVar |
| 17 | g.4933818C>T | CA397320501 | CHRNE,GP1BA | c.1214C>T (p.Thr405Ile) c.-888+524G>A (n.-888+524G>A) | |
| 17 | g.4933819T>A | CA497677772 | CHRNE,GP1BA | c.1215T>A (p.Thr405=) c.-888+523A>T (n.-888+523A>T) | |
| 17 | g.4933819T>C | CA497677774 | CHRNE,GP1BA | c.1215T>C (p.Thr405=) c.-888+523A>G (n.-888+523A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933819T>G | CA497677773 | CHRNE,GP1BA | c.1215T>G (p.Thr405=) c.-888+523A>C (n.-888+523A>C) | |
| 17 | g.4933819T= | CA2244625735 | CHRNE,GP1BA | c.1215T= (p.Thr405=) c.-888+523A= (n.-888+523A=) | |
| 17 | g.4933819_4933963delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC | CA2244625736 | CHRNE,GP1BA | c.1215_1359delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC (p.Thr405=) c.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA (n.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA) c.1215_1281delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC | |
| 17 | g.4933820C>A | CA397320508 | CHRNE,GP1BA | c.1216C>A (p.Pro406Thr) c.-888+522G>T (n.-888+522G>T) | |
| 17 | g.4933820C>G | CA397320506 | CHRNE,GP1BA | c.1216C>G (p.Pro406Ala) c.-888+522G>C (n.-888+522G>C) | |
| 17 | g.4933820C>T | CA397320503 | CHRNE,GP1BA | c.1216C>T (p.Pro406Ser) c.-888+522G>A (n.-888+522G>A) | |
| 17 | g.4933822_4933899del | CA2635579021 | CHRNE,GP1BA | c.1218_1295del (p.Ser407_Pro432del) c.-888+445_-888+522del (n.-888+445_-888+522del) c.1218_1272+23del | gnomAD v4 |
| 17 | g.4933824_4933967del | CA980971864 | CHRNE,GP1BA | c.1220_1363del (p.Ser407_Pro454del) c.-888+379_-888+522del (n.-888+379_-888+522del) c.1220_1285del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933821C>A | CA397320513 | CHRNE,GP1BA | c.1217C>A (p.Pro406Gln) c.-888+521G>T (n.-888+521G>T) | |
| 17 | g.4933821C= | CA2244625737 | CHRNE,GP1BA | c.1217C= (p.Pro406=) c.-888+521G= (n.-888+521G=) | |
| 17 | g.4933821C>G | CA397320510 | CHRNE,GP1BA | c.1217C>G (p.Pro406Arg) c.-888+521G>C (n.-888+521G>C) | |
| 17 | g.4933821C>T | CA397320512 | CHRNE,GP1BA | c.1217C>T (p.Pro406Leu) c.-888+521G>A (n.-888+521G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933822A>C | CA497677778 | CHRNE,GP1BA | c.1218A>C (p.Pro406=) c.-888+520T>G (n.-888+520T>G) | gnomAD v4 |
| 17 | g.4933822A>G | CA497677779 | CHRNE,GP1BA | c.1218A>G (p.Pro406=) c.-888+520T>C (n.-888+520T>C) | |
| 17 | g.4933822A>T | CA497677781 | CHRNE,GP1BA | c.1218A>T (p.Pro406=) c.-888+520T>A (n.-888+520T>A) | |
| 17 | g.4933822_4933861delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC | CA2244625740 | CHRNE,GP1BA | c.1218_1257delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=) c.-888+481_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+481_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT) | |
| 17 | g.4933822_4933900delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC | CA2244625738 | CHRNE,GP1BA | c.1218_1296delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=) c.-888+442_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+442_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT) c.1218_1272+24delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC | |
| 17 | g.4933822_4933939delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC | CA2244625739 | CHRNE,GP1BA | c.1218_1335delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=) c.-888+403_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+403_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT) c.1218_1273-16delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC | |
| 17 | g.4933823A>C | CA397320516 | CHRNE,GP1BA | c.1219A>C (p.Ser407Arg) c.-888+519T>G (n.-888+519T>G) | |
| 17 | g.4933823A>G | CA397320518 | CHRNE,GP1BA | c.1219A>G (p.Ser407Gly) c.-888+519T>C (n.-888+519T>C) | |
| 17 | g.4933823A>T | CA397320519 | CHRNE,GP1BA | c.1219A>T (p.Ser407Cys) c.-888+519T>A (n.-888+519T>A) | |
| 17 | g.4933837_4933875del | CA8314926 | CHRNE,GP1BA | c.1233_1271del (p.Glu412_Pro424del) c.-888+481_-888+519del (n.-888+481_-888+519del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933837_4933953del | CA8314925 | CHRNE,GP1BA | c.1233_1349del (p.Glu412_Pro450del) c.-888+403_-888+519del (n.-888+403_-888+519del) c.1233_1273-2del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933886_4933963del | CA8314924 | CHRNE,GP1BA | c.1282_1359del (p.Ser428_Thr453del) c.-888+442_-888+519del (n.-888+442_-888+519del) c.1272+10_1281del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933824G>A | CA397320521 | CHRNE,GP1BA | c.1220G>A (p.Ser407Asn) c.-888+518C>T (n.-888+518C>T) | gnomAD v4 |
| 17 | g.4933824G>C | CA397320522 | CHRNE,GP1BA | c.1220G>C (p.Ser407Thr) c.-888+518C>G (n.-888+518C>G) | |
| 17 | g.4933824G>T | CA397320525 | CHRNE,GP1BA | c.1220G>T (p.Ser407Ile) c.-888+518C>A (n.-888+518C>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4933825C>A | CA397320528 | CHRNE,GP1BA | c.1221C>A (p.Ser407Arg) c.-888+517G>T (n.-888+517G>T) | gnomAD v4 |
| 17 | g.4933825C= | CA2244625741 | CHRNE,GP1BA | c.1221C= (p.Ser407=) c.-888+517G= (n.-888+517G=) | |
| 17 | g.4933825C>G | CA397320530 | CHRNE,GP1BA | c.1221C>G (p.Ser407Arg) c.-888+517G>C (n.-888+517G>C) | |
| 17 | g.4933825C>T | CA497677788 | CHRNE,GP1BA | c.1221C>T (p.Ser407=) c.-888+517G>A (n.-888+517G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933833_4933976del | CA980971882 | CHRNE,GP1BA | c.1229_1372del (p.Thr410_Thr457del) c.-888+374_-888+517del (n.-888+374_-888+517del) c.1229_1294del | gnomAD v3 gnomAD v4 |
| 17 | g.4933826C>A | CA397320532 | CHRNE,GP1BA | c.1222C>A (p.Pro408Thr) c.-888+516G>T (n.-888+516G>T) | COSMIC |
| 17 | g.4933826C>G | CA397320533 | CHRNE,GP1BA | c.1222C>G (p.Pro408Ala) c.-888+516G>C (n.-888+516G>C) | |
| 17 | g.4933826C>T | CA397320536 | CHRNE,GP1BA | c.1222C>T (p.Pro408Ser) c.-888+516G>A (n.-888+516G>A) | |
| 17 | g.4933827C>A | CA8314928 | CHRNE,GP1BA | c.1223C>A (p.Pro408Gln) c.-888+515G>T (n.-888+515G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933827C= | CA2244625742 | CHRNE,GP1BA | c.1223C= (p.Pro408=) c.-888+515G= (n.-888+515G=) | |
| 17 | g.4933827C>G | CA397320537 | CHRNE,GP1BA | c.1223C>G (p.Pro408Arg) c.-888+515G>C (n.-888+515G>C) | gnomAD v4 |
| 17 | g.4933827C>T | CA8314927 | CHRNE,GP1BA | c.1223C>T (p.Pro408Leu) c.-888+515G>A (n.-888+515G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933827_4933828delinsCG | CA2244625743 | CHRNE,GP1BA | c.1223_1224delinsCG (p.Pro408=) c.-888+514_-888+515delinsCG (n.-888+514_-888+515delinsCG) | |
| 17 | g.4933828del | CA624856140 | CHRNE,GP1BA | c.1224del (p.Thr409ProfsTer?) c.-888+514del (n.-888+514del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933828G>A | CA8314929 | CHRNE,GP1BA | c.1224G>A (p.Pro408=) c.-888+514C>T (n.-888+514C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933828G>C | CA497677791 | CHRNE,GP1BA | c.1224G>C (p.Pro408=) c.-888+514C>G (n.-888+514C>G) | dbSNP gnomAD v4 |
| 17 | g.4933828G= | CA2244625744 | CHRNE,GP1BA | c.1224G= (p.Pro408=) c.-888+514C= (n.-888+514C=) | |
| 17 | g.4933828G>T | CA497677792 | CHRNE,GP1BA | c.1224G>T (p.Pro408=) c.-888+514C>A (n.-888+514C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933828_4933829del | CA2635579022 | CHRNE,GP1BA | c.1224_1225del (p.Thr409HisfsTer?) c.-888+513_-888+514del (n.-888+513_-888+514del) | gnomAD v4 |
| 17 | g.4933828_4933915delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA | CA2244625745 | CHRNE,GP1BA | c.1224_1311delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Pro408=) c.-888+427_-888+514delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTC (n.-888+427_-888+514delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTC) c.1224_1273-40delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA | |
| 17 | g.4933829del | CA2635579023 | CHRNE,GP1BA | c.1225del (p.Thr409ProfsTer?) c.-888+513del (n.-888+513del) | gnomAD v4 |
| 17 | g.4933829A= | CA2244625747 | CHRNE,GP1BA | c.1225A= (p.Thr409=) c.-888+513T= (n.-888+513T=) | |
| 17 | g.4933829A>C | CA397320542 | CHRNE,GP1BA | c.1225A>C (p.Thr409Pro) c.-888+513T>G (n.-888+513T>G) | |
| 17 | g.4933829A>G | CA397320544 | CHRNE,GP1BA | c.1225A>G (p.Thr409Ala) c.-888+513T>C (n.-888+513T>C) | dbSNP |
| 17 | g.4933829A>T | CA397320546 | CHRNE,GP1BA | c.1225A>T (p.Thr409Ser) c.-888+513T>A (n.-888+513T>A) | |
| 17 | g.4933829_4933846del | CA2635579024 | CHRNE,GP1BA | c.1225_1242del (p.Thr409_Thr414del) c.-888+496_-888+513del (n.-888+496_-888+513del) | gnomAD v4 |
| 17 | g.4933829_4933906delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG | CA2244625746 | CHRNE,GP1BA | c.1225_1302delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG (p.Thr409=) c.-888+436_-888+513delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT (n.-888+436_-888+513delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT) c.1225_1272+30delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG | |
| 17 | g.4933829_4933915del | CA980971891 | CHRNE,GP1BA | c.1225_1311del (p.Thr409_Pro437del) c.-888+427_-888+513del (n.-888+427_-888+513del) c.1225_1273-40del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933830C>A | CA397320550 | CHRNE,GP1BA | c.1226C>A (p.Thr409Asn) c.-888+512G>T (n.-888+512G>T) | |
| 17 | g.4933830C>G | CA397320552 | CHRNE,GP1BA | c.1226C>G (p.Thr409Ser) c.-888+512G>C (n.-888+512G>C) | |
| 17 | g.4933830C>T | CA397320555 | CHRNE,GP1BA | c.1226C>T (p.Thr409Ile) c.-888+512G>A (n.-888+512G>A) | |
| 17 | g.4933830_4933906del | CA624856141 | CHRNE,GP1BA | c.1226_1302del (p.Thr409AsnfsTer?) c.-888+436_-888+512del (n.-888+436_-888+512del) c.1226_1272+30del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933831C>A | CA497677793 | CHRNE,GP1BA | c.1227C>A (p.Thr409=) c.-888+511G>T (n.-888+511G>T) | |
| 17 | g.4933831C>G | CA497677794 | CHRNE,GP1BA | c.1227C>G (p.Thr409=) c.-888+511G>C (n.-888+511G>C) | gnomAD v4 |
| 17 | g.4933831C>T | CA497677795 | CHRNE,GP1BA | c.1227C>T (p.Thr409=) c.-888+511G>A (n.-888+511G>A) | gnomAD v4 |
| 17 | g.4933832del | CA2635579025 | CHRNE,GP1BA | c.1228del (p.Thr410ProfsTer?) c.-888+510del (n.-888+510del) | gnomAD v4 |
| 17 | g.4933832A= | CA2244625748 | CHRNE,GP1BA | c.1228A= (p.Thr410=) c.-888+510T= (n.-888+510T=) | |
| 17 | g.4933832A>C | CA397320556 | CHRNE,GP1BA | c.1228A>C (p.Thr410Pro) c.-888+510T>G (n.-888+510T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933832A>G | CA397320558 | CHRNE,GP1BA | c.1228A>G (p.Thr410Ala) c.-888+510T>C (n.-888+510T>C) | |
| 17 | g.4933832A>T | CA397320561 | CHRNE,GP1BA | c.1228A>T (p.Thr410Ser) c.-888+510T>A (n.-888+510T>A) | |
| 17 | g.4933833C>A | CA397320564 | CHRNE,GP1BA | c.1229C>A (p.Thr410Asn) c.-888+509G>T (n.-888+509G>T) | gnomAD v4 |
| 17 | g.4933833C>G | CA397320565 | CHRNE,GP1BA | c.1229C>G (p.Thr410Ser) c.-888+509G>C (n.-888+509G>C) | |
| 17 | g.4933833C>T | CA397320568 | CHRNE,GP1BA | c.1229C>T (p.Thr410Ile) c.-888+509G>A (n.-888+509G>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4933833_4933846del | CA980971895 | CHRNE,GP1BA | c.1229_1242del (p.Thr410IlefsTer?) c.-888+496_-888+509del (n.-888+496_-888+509del) | gnomAD v3 gnomAD v4 |
| 17 | g.4933833_4933900del | CA2635579026 | CHRNE,GP1BA | c.1229_1296del (p.Thr410LysfsTer?) c.-888+442_-888+509del (n.-888+442_-888+509del) c.1229_1272+24del | gnomAD v4 |
| 17 | g.4933834C>A | CA497677801 | CHRNE,GP1BA | c.1230C>A (p.Thr410=) c.-888+508G>T (n.-888+508G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933834C= | CA2244625749 | CHRNE,GP1BA | c.1230C= (p.Thr410=) c.-888+508G= (n.-888+508G=) | |
| 17 | g.4933834C>G | CA497677798 | CHRNE,GP1BA | c.1230C>G (p.Thr410=) c.-888+508G>C (n.-888+508G>C) | |
| 17 | g.4933834C>T | CA497677800 | CHRNE,GP1BA | c.1230C>T (p.Thr410=) c.-888+508G>A (n.-888+508G>A) | gnomAD v4 |
| 17 | g.4933837_4933913del | CA2635579027 | CHRNE,GP1BA | c.1233_1309del (p.Glu412ArgfsTer?) c.-888+432_-888+508del (n.-888+432_-888+508del) c.1233_1272+37del | gnomAD v4 |
| 17 | g.4933835_4933978del | CA2808297149 | CHRNE,GP1BA | c.1231_1374del (p.Pro411_Ile458del) c.-888+365_-888+508del (n.-888+365_-888+508del) c.1231_1296del | |
| 17 | g.4933836_4933997del | CA2808297150 | CHRNE,GP1BA | c.1232_1393del (p.Pro411_Ile464del) c.-888+347_-888+508del (n.-888+347_-888+508del) c.1232_1315del | |
| 17 | g.4933835C>A | CA397320574 | CHRNE,GP1BA | c.1231C>A (p.Pro411Thr) c.-888+507G>T (n.-888+507G>T) | |
| 17 | g.4933835C= | CA2244625750 | CHRNE,GP1BA | c.1231C= (p.Pro411=) c.-888+507G= (n.-888+507G=) | |
| 17 | g.4933835C>G | CA397320572 | CHRNE,GP1BA | c.1231C>G (p.Pro411Ala) c.-888+507G>C (n.-888+507G>C) | |
| 17 | g.4933835C>T | CA287217140 | CHRNE,GP1BA | c.1231C>T (p.Pro411Ser) c.-888+507G>A (n.-888+507G>A) | dbSNP |
| 17 | g.4933836C>A | CA397320576 | CHRNE,GP1BA | c.1232C>A (p.Pro411Gln) c.-888+506G>T (n.-888+506G>T) | |
| 17 | g.4933836C= | CA2244625751 | CHRNE,GP1BA | c.1232C= (p.Pro411=) c.-888+506G= (n.-888+506G=) | |
| 17 | g.4933836C>G | CA397320580 | CHRNE,GP1BA | c.1232C>G (p.Pro411Arg) c.-888+506G>C (n.-888+506G>C) | |
| 17 | g.4933836C>T | CA8314930 | CHRNE,GP1BA | c.1232C>T (p.Pro411Leu) c.-888+506G>A (n.-888+506G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933836_4933837delinsCA | CA2244625752 | CHRNE,GP1BA | c.1232_1233delinsCA (p.Pro411=) c.-888+505_-888+506delinsTG (n.-888+505_-888+506delinsTG) | |
| 17 | g.4933837del | CA8314931 | CHRNE,GP1BA | c.1233del (p.Glu412SerfsTer?) c.-888+505del (n.-888+505del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933837A= | CA2244625754 | CHRNE,GP1BA | c.1233A= (p.Pro411=) c.-888+505T= (n.-888+505T=) | |
| 17 | g.4933837A>C | CA497677805 | CHRNE,GP1BA | c.1233A>C (p.Pro411=) c.-888+505T>G (n.-888+505T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933837A>G | CA8314932 | CHRNE,GP1BA | c.1233A>G (p.Pro411=) c.-888+505T>C (n.-888+505T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933837A>T | CA497677806 | CHRNE,GP1BA | c.1233A>T (p.Pro411=) c.-888+505T>A (n.-888+505T>A) | |
| 17 | g.4933837_4933840del | CA2635579029 | CHRNE,GP1BA | c.1233_1236del (p.Glu412ProfsTer?) c.-888+502_-888+505del (n.-888+502_-888+505del) | dbSNP gnomAD v4 |
| 17 | g.4933839_4933840del | CA2635579028 | CHRNE,GP1BA | c.1235_1236del (p.Glu412AlafsTer?) c.-888+504_-888+505del (n.-888+504_-888+505del) | gnomAD v4 |
| 17 | g.4933837_4933876delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG | CA2244625753 | CHRNE,GP1BA | c.1233_1272delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (p.Pro411=) c.-888+466_-888+505delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT (n.-888+466_-888+505delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT) | |
| 17 | g.4933838del | CA2635579031 | CHRNE,GP1BA | c.1234del (p.Glu412SerfsTer?) c.-888+504del (n.-888+504del) | gnomAD v4 |
| 17 | g.4933838G>A | CA8314934 | CHRNE,GP1BA | c.1234G>A (p.Glu412Lys) c.-888+504C>T (n.-888+504C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933838G>C | CA397320592 | CHRNE,GP1BA | c.1234G>C (p.Glu412Gln) c.-888+504C>G (n.-888+504C>G) | gnomAD v4 |
| 17 | g.4933838G= | CA2244625755 | CHRNE,GP1BA | c.1234G= (p.Glu412=) c.-888+504C= (n.-888+504C=) | |
| 17 | g.4933838G>T | CA397320593 | CHRNE,GP1BA | c.1234G>T (p.Glu412Ter) c.-888+504C>A (n.-888+504C>A) | |
| 17 | g.4933838_4933840del | CA2635579032 | CHRNE,GP1BA | c.1234_1236del (p.Glu412del) c.-888+502_-888+504del (n.-888+502_-888+504del) | gnomAD v4 |
| 17 | g.4933838_4933846del | CA2635579030 | CHRNE,GP1BA | c.1234_1242del (p.Glu412_Thr414del) c.-888+496_-888+504del (n.-888+496_-888+504del) | gnomAD v4 |
| 17 | g.4933854_4933855insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCC | CA624856144 | CHRNE,GP1BA | c.1250_1251insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCC (p.Pro417_Ala418insAlaProSerProThrThrProGluProThrSerGluPro) c.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTGGGCTC) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933870_4933871insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC | CA2635579035 | CHRNE,GP1BA | c.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (p.Thr422_Thr423insProProGluProThrSerGluProAlaProSerProThr) c.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC) | gnomAD v4 |
| 17 | g.4933838_4933900del | CA980971910 | CHRNE,GP1BA | c.1234_1296del (p.Glu412_Pro432del) c.-888+442_-888+504del (n.-888+442_-888+504del) c.1234_1272+24del | gnomAD v3 gnomAD v4 |
| 17 | g.4933838_4933911del | CA2808297160 | CHRNE,GP1BA | c.1234_1307del (p.Glu412ProfsTer?) c.-888+431_-888+504del (n.-888+431_-888+504del) c.1234_1272+35del | |
| 17 | g.4933914_4933915insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC | CA624856142 | CHRNE,GP1BA | c.1310_1311insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC (p.Pro437_Glu438insGluProThrSerGluProAlaProSerProThrThrProGluProThrSerGluProAlaProSerProThrThrPro) c.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC) c.1272+38_1273-40insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC | ClinVar gnomAD v2 gnomAD v4 |
| 17 | g.4933876_4933914dup | CA2635579033 | CHRNE,GP1BA | c.1272_1310dup (p.Pro437_Glu438insGluProThrSerGluProAlaProSerProThrThrPro) c.-888+466_-888+504dup (n.-888+466_-888+504dup) c.1272_1272+38dup | gnomAD v4 |
| 17 | g.4933876_4933914del | CA624856143 | CHRNE,GP1BA | c.1272_1310del (p.Glu425_Pro437del) c.-888+466_-888+504del (n.-888+466_-888+504del) c.1272_1272+38del | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4933838_4933915delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA | CA2244625756 | CHRNE,GP1BA | c.1234_1311delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Glu412=) c.-888+427_-888+504delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+427_-888+504delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC) c.1234_1273-40delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA | |
| 17 | g.4933847_4933963del | CA980971914 | CHRNE,GP1BA | c.1243_1359del (p.Ser415_Thr453del) c.-888+388_-888+504del (n.-888+388_-888+504del) c.1243_1281del | gnomAD v3 gnomAD v4 |
| 17 | g.4933839A= | CA2244625757 | CHRNE,GP1BA | c.1235A= (p.Glu412=) c.-888+503T= (n.-888+503T=) | |
| 17 | g.4933839A>C | CA397320595 | CHRNE,GP1BA | c.1235A>C (p.Glu412Ala) c.-888+503T>G (n.-888+503T>G) | gnomAD v3 gnomAD v4 |
| 17 | g.4933839A>G | CA8314935 | CHRNE,GP1BA | c.1235A>G (p.Glu412Gly) c.-888+503T>C (n.-888+503T>C) | dbSNP ExAC gnomAD v4 |
| 17 | g.4933839A>T | CA397320596 | CHRNE,GP1BA | c.1235A>T (p.Glu412Val) c.-888+503T>A (n.-888+503T>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4933839_4933915del | CA8314933 | CHRNE,GP1BA | c.1235_1311del (p.Glu412GlyfsTer?) c.-888+427_-888+503del (n.-888+427_-888+503del) c.1235_1273-40del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933840del | CA2635579036 | CHRNE,GP1BA | c.1236del (p.Glu412AspfsTer?) c.-888+502del (n.-888+502del) | gnomAD v4 |
| 17 | g.4933840G>A | CA497677808 | CHRNE,GP1BA | c.1236G>A (p.Glu412=) c.-888+502C>T (n.-888+502C>T) | dbSNP |
| 17 | g.4933840G>C | CA397320598 | CHRNE,GP1BA | c.1236G>C (p.Glu412Asp) c.-888+502C>G (n.-888+502C>G) | |
| 17 | g.4933840G= | CA2244625758 | CHRNE,GP1BA | c.1236G= (p.Glu412=) c.-888+502C= (n.-888+502C=) | |
| 17 | g.4933840G>T | CA397320600 | CHRNE,GP1BA | c.1236G>T (p.Glu412Asp) c.-888+502C>A (n.-888+502C>A) | gnomAD v4 |
| 17 | g.4933840_4933843del | CA2635579037 | CHRNE,GP1BA | c.1236_1239del (p.Thr414GlnfsTer?) c.-888+499_-888+502del (n.-888+499_-888+502del) | gnomAD v4 |
| 17 | g.4933841C>A | CA8314936 | CHRNE,GP1BA | c.1237C>A (p.Pro413Thr) c.-888+501G>T (n.-888+501G>T) | dbSNP ExAC |
| 17 | g.4933841C= | CA2244625759 | CHRNE,GP1BA | c.1237C= (p.Pro413=) c.-888+501G= (n.-888+501G=) | |
| 17 | g.4933841C>G | CA397320601 | CHRNE,GP1BA | c.1237C>G (p.Pro413Ala) c.-888+501G>C (n.-888+501G>C) | dbSNP |
| 17 | g.4933841C>T | CA397320603 | CHRNE,GP1BA | c.1237C>T (p.Pro413Ser) c.-888+501G>A (n.-888+501G>A) | |
| 17 | g.4933843del | CA2635579038 | CHRNE,GP1BA | c.1239del (p.Thr414ProfsTer?) c.-888+501del (n.-888+501del) | gnomAD v4 |
| 17 | g.4933842_4933843del | CA2635579039 | CHRNE,GP1BA | c.1238_1239del (p.Pro413HisfsTer?) c.-888+500_-888+501del (n.-888+500_-888+501del) | gnomAD v4 |
| 17 | g.4933841_4933849del | CA2808297163 | CHRNE,GP1BA | c.1237_1245del (p.Pro413_Ser415del) c.-888+493_-888+501del (n.-888+493_-888+501del) | |
| 17 | g.4933842C>A | CA397320605 | CHRNE,GP1BA | c.1238C>A (p.Pro413His) c.-888+500G>T (n.-888+500G>T) | gnomAD v4 |
| 17 | g.4933842C>G | CA397320607 | CHRNE,GP1BA | c.1238C>G (p.Pro413Arg) c.-888+500G>C (n.-888+500G>C) | |
| 17 | g.4933842C>T | CA397320608 | CHRNE,GP1BA | c.1238C>T (p.Pro413Leu) c.-888+500G>A (n.-888+500G>A) | |
| 17 | g.4933842_4933917del | CA2635579041 | CHRNE,GP1BA | c.1238_1313del (p.Pro413ArgfsTer?) c.-888+425_-888+500del (n.-888+425_-888+500del) c.1238_1273-38del | gnomAD v4 |
| 17 | g.4933843C>A | CA497677814 | CHRNE,GP1BA | c.1239C>A (p.Pro413=) c.-888+499G>T (n.-888+499G>T) | |
| 17 | g.4933843C>G | CA497677813 | CHRNE,GP1BA | c.1239C>G (p.Pro413=) c.-888+499G>C (n.-888+499G>C) | |
| 17 | g.4933843C>T | CA497677812 | CHRNE,GP1BA | c.1239C>T (p.Pro413=) c.-888+499G>A (n.-888+499G>A) | |
| 17 | g.4933844del | CA2635579042 | CHRNE,GP1BA | c.1240del (p.Thr414ProfsTer?) c.-888+498del (n.-888+498del) | dbSNP gnomAD v4 |
| 17 | g.4933844A= | CA2244625760 | CHRNE,GP1BA | c.1240A= (p.Thr414=) c.-888+498T= (n.-888+498T=) | |
| 17 | g.4933844A>C | CA397320609 | CHRNE,GP1BA | c.1240A>C (p.Thr414Pro) c.-888+498T>G (n.-888+498T>G) | gnomAD v3 gnomAD v4 |
| 17 | g.4933844A>G | CA287217160 | CHRNE,GP1BA | c.1240A>G (p.Thr414Ala) c.-888+498T>C (n.-888+498T>C) | dbSNP |
| 17 | g.4933844A>T | CA397320612 | CHRNE,GP1BA | c.1240A>T (p.Thr414Ser) c.-888+498T>A (n.-888+498T>A) | |
| 17 | g.4933844_4933856delinsACCTCAGAGCCCG | CA2244625761 | CHRNE,GP1BA | c.1240_1252delinsACCTCAGAGCCCG (p.Thr414=) c.-888+486_-888+498delinsCGGGCTCTGAGGT (n.-888+486_-888+498delinsCGGGCTCTGAGGT) | |
| 17 | g.4933845C>A | CA287217164 | CHRNE,GP1BA | c.1241C>A (p.Thr414Asn) c.-888+497G>T (n.-888+497G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933845C= | CA2244625762 | CHRNE,GP1BA | c.1241C= (p.Thr414=) c.-888+497G= (n.-888+497G=) | |
| 17 | g.4933845C>G | CA397320615 | CHRNE,GP1BA | c.1241C>G (p.Thr414Ser) c.-888+497G>C (n.-888+497G>C) | |
| 17 | g.4933845C>T | CA397320616 | CHRNE,GP1BA | c.1241C>T (p.Thr414Ile) c.-888+497G>A (n.-888+497G>A) | |
| 17 | g.4933846del | CA2635579046 | CHRNE,GP1BA | c.1242del (p.Ser415GlnfsTer?) c.-888+497del (n.-888+497del) | gnomAD v4 |
| 17 | g.4933847_4933858del | CA624856145 | CHRNE,GP1BA | c.1243_1254del (p.Ser415_Ala418del) c.-888+486_-888+497del (n.-888+486_-888+497del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933847_4933859del | CA2635579045 | CHRNE,GP1BA | c.1243_1255del (p.Ser415ProfsTer?) c.-888+485_-888+497del (n.-888+485_-888+497del) c.1243_1255del (p.Ser415ProfsTer27) | gnomAD v4 |
| 17 | g.4933845_4933921del | CA2635579043 | CHRNE,GP1BA | c.1241_1317del (p.Thr414AsnfsTer?) c.-888+421_-888+497del (n.-888+421_-888+497del) c.1241_1273-34del | gnomAD v4 |
| 17 | g.4933846_4933921del | CA2635579044 | CHRNE,GP1BA | c.1242_1317del (p.Ser415ProfsTer?) c.-888+422_-888+497del (n.-888+422_-888+497del) c.1242_1273-34del | gnomAD v4 |
| 17 | g.4933846C>A | CA497677816 | CHRNE,GP1BA | c.1242C>A (p.Thr414=) c.-888+496G>T (n.-888+496G>T) | |
| 17 | g.4933846C= | CA2244625763 | CHRNE,GP1BA | c.1242C= (p.Thr414=) c.-888+496G= (n.-888+496G=) | |
| 17 | g.4933846C>G | CA497677817 | CHRNE,GP1BA | c.1242C>G (p.Thr414=) c.-888+496G>C (n.-888+496G>C) | |
| 17 | g.4933846C>T | CA497677818 | CHRNE,GP1BA | c.1242C>T (p.Thr414=) c.-888+496G>A (n.-888+496G>A) | dbSNP |
| 17 | g.4933847_4933848del | CA2635579047 | CHRNE,GP1BA | c.1243_1244del (p.Ser415ArgfsTer?) c.-888+495_-888+496del (n.-888+495_-888+496del) | dbSNP gnomAD v4 |
| 17 | g.4933847del | CA2635579048 | CHRNE,GP1BA | c.1243del (p.Ser415GlnfsTer?) c.-888+495del (n.-888+495del) | gnomAD v4 |
| 17 | g.4933847T>A | CA397320618 | CHRNE,GP1BA | c.1243T>A (p.Ser415Thr) c.-888+495A>T (n.-888+495A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933847T>C | CA397320620 | CHRNE,GP1BA | c.1243T>C (p.Ser415Pro) c.-888+495A>G (n.-888+495A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933847T>G | CA397320621 | CHRNE,GP1BA | c.1243T>G (p.Ser415Ala) c.-888+495A>C (n.-888+495A>C) | |
| 17 | g.4933847T= | CA2244625764 | CHRNE,GP1BA | c.1243T= (p.Ser415=) c.-888+495A= (n.-888+495A=) | |
| 17 | g.4933847_4933884delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC | CA2244625765 | CHRNE,GP1BA | c.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (p.Ser415=) c.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA) c.1243_1272+8delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC | |
| 17 | g.4933848C>A | CA397320623 | CHRNE,GP1BA | c.1244C>A (p.Ser415Ter) c.-888+494G>T (n.-888+494G>T) | |
| 17 | g.4933848C= | CA2244625766 | CHRNE,GP1BA | c.1244C= (p.Ser415=) c.-888+494G= (n.-888+494G=) | |
| 17 | g.4933848C>G | CA8314938 | CHRNE,GP1BA | c.1244C>G (p.Ser415Ter) c.-888+494G>C (n.-888+494G>C) | dbSNP ExAC |
| 17 | g.4933848C>T | CA397320622 | CHRNE,GP1BA | c.1244C>T (p.Ser415Leu) c.-888+494G>A (n.-888+494G>A) | |
| 17 | g.4933848_4933849delinsCA | CA2244625767 | CHRNE,GP1BA | c.1244_1245delinsCA (p.Ser415=) c.-888+493_-888+494delinsTG (n.-888+493_-888+494delinsTG) | |
| 17 | g.4933849_4933855del | CA980971939 | CHRNE,GP1BA | c.1245_1251del (p.Glu416ProfsTer?) c.-888+488_-888+494del (n.-888+488_-888+494del) c.1245_1251del (p.Glu416ProfsTer28) | gnomAD v3 gnomAD v4 |
| 17 | g.4933849_4933859del | CA2635579049 | CHRNE,GP1BA | c.1245_1255del (p.Glu416GlnfsTer?) c.-888+484_-888+494del (n.-888+484_-888+494del) | gnomAD v4 |
| 17 | g.4933849_4933885del | CA8314937 | CHRNE,GP1BA | c.1245_1281del (p.Glu416GlnfsTer?) c.-888+458_-888+494del (n.-888+458_-888+494del) c.1245_1272+9del | dbSNP ExAC gnomAD v4 |
| 17 | g.4933849_4933903del | CA2635579050 | CHRNE,GP1BA | c.1245_1299del (p.Glu416ArgfsTer?) c.-888+440_-888+494del (n.-888+440_-888+494del) c.1245_1272+27del | gnomAD v4 |
| 17 | g.4933848_4933924del | CA2635579051 | CHRNE,GP1BA | c.1244_1320del (p.Ser415PhefsTer?) c.-888+418_-888+494del (n.-888+418_-888+494del) c.1244_1273-31del | gnomAD v4 |
| 17 | g.4933850_4933966del | CA980971941 | CHRNE,GP1BA | c.1246_1362del (p.Glu416_Pro454del) c.-888+378_-888+494del (n.-888+378_-888+494del) c.1246_1284del | gnomAD v3 gnomAD v4 |
| 17 | g.4933849del | CA8314939 | CHRNE,GP1BA | c.1245del (p.Glu416SerfsTer?) c.-888+493del (n.-888+493del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933849A= | CA2244625768 | CHRNE,GP1BA | c.1245A= (p.Ser415=) c.-888+493T= (n.-888+493T=) | |
| 17 | g.4933849A>C | CA497677824 | CHRNE,GP1BA | c.1245A>C (p.Ser415=) c.-888+493T>G (n.-888+493T>G) | |
| 17 | g.4933849A>G | CA497677825 | CHRNE,GP1BA | c.1245A>G (p.Ser415=) c.-888+493T>C (n.-888+493T>C) | |
| 17 | g.4933849A>T | CA497677823 | CHRNE,GP1BA | c.1245A>T (p.Ser415=) c.-888+493T>A (n.-888+493T>A) | dbSNP gnomAD v4 |
| 17 | g.4933849_4933852del | CA2635579053 | CHRNE,GP1BA | c.1245_1248del (p.Glu416ProfsTer?) c.-888+490_-888+493del (n.-888+490_-888+493del) c.1245_1248del (p.Glu416ProfsTer29) | gnomAD v4 |
| 17 | g.4933851_4933852del | CA2635579052 | CHRNE,GP1BA | c.1247_1248del (p.Glu416AlafsTer?) c.-888+492_-888+493del (n.-888+492_-888+493del) | gnomAD v4 |
| 17 | g.4933850del | CA2635579054 | CHRNE,GP1BA | c.1246del (p.Glu416SerfsTer?) c.-888+492del (n.-888+492del) c.1246del (p.Glu416SerfsTer30) | gnomAD v4 |
| 17 | g.4933850G>A | CA397320626 | CHRNE,GP1BA | c.1246G>A (p.Glu416Lys) c.-888+492C>T (n.-888+492C>T) | COSMIC |
| 17 | g.4933850G>C | CA397320628 | CHRNE,GP1BA | c.1246G>C (p.Glu416Gln) c.-888+492C>G (n.-888+492C>G) | gnomAD v4 |
| 17 | g.4933850G>T | CA397320630 | CHRNE,GP1BA | c.1246G>T (p.Glu416Ter) c.-888+492C>A (n.-888+492C>A) | |
| 17 | g.4933850_4933852del | CA2635579055 | CHRNE,GP1BA | c.1246_1248del (p.Glu416del) c.-888+490_-888+492del (n.-888+490_-888+492del) | gnomAD v4 |
| 17 | g.4933850_4933925del | CA2635579056 | CHRNE,GP1BA | c.1246_1321del (p.Glu416GlnfsTer?) c.-888+417_-888+492del (n.-888+417_-888+492del) c.1246_1273-30del | gnomAD v4 |
| 17 | g.4933856_4933960del | CA980971948 | CHRNE,GP1BA | c.1252_1356del (p.Ala418_Pro452del) c.-888+388_-888+492del (n.-888+388_-888+492del) c.1252_1278del | gnomAD v3 gnomAD v4 |
| 17 | g.4933851A= | CA2244625770 | CHRNE,GP1BA | c.1247A= (p.Glu416=) c.-888+491T= (n.-888+491T=) | |
| 17 | g.4933851A>C | CA397320632 | CHRNE,GP1BA | c.1247A>C (p.Glu416Ala) c.-888+491T>G (n.-888+491T>G) | |
| 17 | g.4933851A>G | CA397320633 | CHRNE,GP1BA | c.1247A>G (p.Glu416Gly) c.-888+491T>C (n.-888+491T>C) | dbSNP gnomAD v4 |
| 17 | g.4933851A>T | CA397320635 | CHRNE,GP1BA | c.1247A>T (p.Glu416Val) c.-888+491T>A (n.-888+491T>A) | |
| 17 | g.4933851_4933852delinsAG | CA2244625769 | CHRNE,GP1BA | c.1247_1248delinsAG (p.Glu416=) c.-888+490_-888+491delinsCT (n.-888+490_-888+491delinsCT) | |
| 17 | g.4933851_4933927del | CA8314940 | CHRNE,GP1BA | c.1247_1323del (p.Glu416GlyfsTer?) c.-888+415_-888+491del (n.-888+415_-888+491del) c.1247_1273-28del | ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933852del | CA624856146 | CHRNE,GP1BA | c.1248del (p.Glu416AspfsTer?) c.-888+490del (n.-888+490del) c.1248del (p.Glu416AspfsTer30) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933852G>A | CA497677946 | CHRNE,GP1BA | c.1248G>A (p.Glu416=) c.-888+490C>T (n.-888+490C>T) | |
| 17 | g.4933852G>C | CA397320639 | CHRNE,GP1BA | c.1248G>C (p.Glu416Asp) c.-888+490C>G (n.-888+490C>G) | |
| 17 | g.4933852G= | CA2244625771 | CHRNE,GP1BA | c.1248G= (p.Glu416=) c.-888+490C= (n.-888+490C=) | |
| 17 | g.4933852G>T | CA397320641 | CHRNE,GP1BA | c.1248G>T (p.Glu416Asp) c.-888+490C>A (n.-888+490C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933852_4933861del | CA2635579057 | CHRNE,GP1BA | c.1248_1257del (p.Pro417AlafsTer?) c.-888+481_-888+490del (n.-888+481_-888+490del) c.1248_1257del (p.Pro417AlafsTer26) | gnomAD v4 |
| 17 | g.4933852_4933883delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA | CA2244625772 | CHRNE,GP1BA | c.1248_1279delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA (p.Glu416=) c.-888+459_-888+490delinsTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGC (n.-888+459_-888+490delinsTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGC) c.1248_1272+7delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA | |
| 17 | g.4933852_4933885del | CA2635579058 | CHRNE,GP1BA | c.1248_1281del (p.Glu416AspfsTer?) c.-888+457_-888+490del (n.-888+457_-888+490del) c.1248_1272+9del | gnomAD v4 |
| 17 | g.4933853C>A | CA397320643 | CHRNE,GP1BA | c.1249C>A (p.Pro417Thr) c.-888+489G>T (n.-888+489G>T) | |
| 17 | g.4933853C>G | CA397320645 | CHRNE,GP1BA | c.1249C>G (p.Pro417Ala) c.-888+489G>C (n.-888+489G>C) | |
| 17 | g.4933853C>T | CA397320646 | CHRNE,GP1BA | c.1249C>T (p.Pro417Ser) c.-888+489G>A (n.-888+489G>A) | gnomAD v4 |
| 17 | g.4933856_4933861del | CA2635579061 | CHRNE,GP1BA | c.1252_1257del (p.Ala418_Pro419del) c.-888+484_-888+489del (n.-888+484_-888+489del) | gnomAD v4 |
| 17 | g.4933853_4933885del | CA2635579059 | CHRNE,GP1BA | c.1249_1281del (p.Pro417_Thr427del) c.-888+457_-888+489del (n.-888+457_-888+489del) c.1249_1272+9del | gnomAD v4 |
| 17 | g.4933855_4933885del | CA8314941 | CHRNE,GP1BA | c.1251_1281del (p.Ala418GlnfsTer?) c.-888+459_-888+489del (n.-888+459_-888+489del) c.1251_1272+9del | dbSNP ExAC gnomAD v4 |
| 17 | g.4933854_4933885del | CA2635579062 | CHRNE,GP1BA | c.1250_1281del (p.Pro417LeufsTer?) c.-888+458_-888+489del (n.-888+458_-888+489del) c.1250_1272+9del | gnomAD v4 |
| 17 | g.4933854C>A | CA397320650 | CHRNE,GP1BA | c.1250C>A (p.Pro417His) c.-888+488G>T (n.-888+488G>T) | gnomAD v4 |
| 17 | g.4933854C= | CA2244625773 | CHRNE,GP1BA | c.1250C= (p.Pro417=) c.-888+488G= (n.-888+488G=) | |
| 17 | g.4933854C>G | CA397320649 | CHRNE,GP1BA | c.1250C>G (p.Pro417Arg) c.-888+488G>C (n.-888+488G>C) | |
| 17 | g.4933854C>T | CA397320648 | CHRNE,GP1BA | c.1250C>T (p.Pro417Leu) c.-888+488G>A (n.-888+488G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933855C>A | CA497677951 | CHRNE,GP1BA | c.1251C>A (p.Pro417=) c.-888+487G>T (n.-888+487G>T) | |
| 17 | g.4933855C= | CA2244625774 | CHRNE,GP1BA | c.1251C= (p.Pro417=) c.-888+487G= (n.-888+487G=) | |
| 17 | g.4933855C>G | CA497677952 | CHRNE,GP1BA | c.1251C>G (p.Pro417=) c.-888+487G>C (n.-888+487G>C) | gnomAD v4 |
| 17 | g.4933855C>T | CA8314942 | CHRNE,GP1BA | c.1251C>T (p.Pro417=) c.-888+487G>A (n.-888+487G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933856del | CA980971961 | CHRNE,GP1BA | c.1252del (p.Ala418ProfsTer?) c.-888+486del (n.-888+486del) c.1252del (p.Ala418ProfsTer28) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933856G>A | CA8314943 | CHRNE,GP1BA | c.1252G>A (p.Ala418Thr) c.-888+486C>T (n.-888+486C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933856G>C | CA397320657 | CHRNE,GP1BA | c.1252G>C (p.Ala418Pro) c.-888+486C>G (n.-888+486C>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933856G= | CA2244625775 | CHRNE,GP1BA | c.1252G= (p.Ala418=) c.-888+486C= (n.-888+486C=) | |
| 17 | g.4933856G>T | CA397320658 | CHRNE,GP1BA | c.1252G>T (p.Ala418Ser) c.-888+486C>A (n.-888+486C>A) | gnomAD v4 |
| 17 | g.4933857C>A | CA397320659 | CHRNE,GP1BA | c.1253C>A (p.Ala418Asp) c.-888+485G>T (n.-888+485G>T) | dbSNP |
| 17 | g.4933857C= | CA2244625776 | CHRNE,GP1BA | c.1253C= (p.Ala418=) c.-888+485G= (n.-888+485G=) | |
| 17 | g.4933857C>G | CA397320661 | CHRNE,GP1BA | c.1253C>G (p.Ala418Gly) c.-888+485G>C (n.-888+485G>C) | ClinVar |
| 17 | g.4933857C>T | CA397320662 | CHRNE,GP1BA | c.1253C>T (p.Ala418Val) c.-888+485G>A (n.-888+485G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933857_4933861dup | CA2580610935 | CHRNE,GP1BA | c.1253_1257dup (p.Ser420ProfsTer?) c.-888+481_-888+485dup (n.-888+481_-888+485dup) c.1253_1257dup (p.Ser420ProfsTer28) | |
| 17 | g.4933861del | CA2635579070 | CHRNE,GP1BA | c.1257del (p.Ser420AlafsTer?) c.-888+485del (n.-888+485del) c.1257del (p.Ser420AlafsTer26) | gnomAD v4 |
| 17 | g.4933859_4933861del | CA2635579071 | CHRNE,GP1BA | c.1255_1257del (p.Pro419del) c.-888+483_-888+485del (n.-888+483_-888+485del) | gnomAD v4 |
| 17 | g.4933858_4933933del | CA1139589209 | CHRNE,GP1BA | c.1254_1329del (p.Ser420ProfsTer27) c.-888+410_-888+485del (n.-888+410_-888+485del) c.1254_1273-22del | |
| 17 | g.4933861_4933939del | CA2635579072 | CHRNE,GP1BA | c.1257_1335del (p.Ser420AlafsTer26) c.-888+407_-888+485del (n.-888+407_-888+485del) c.1257_1273-16del | gnomAD v4 |
| 17 | g.4933858C>A | CA497677956 | CHRNE,GP1BA | c.1254C>A (p.Ala418=) c.-888+484G>T (n.-888+484G>T) | gnomAD v4 |
| 17 | g.4933858C>G | CA497677957 | CHRNE,GP1BA | c.1254C>G (p.Ala418=) c.-888+484G>C (n.-888+484G>C) | |
| 17 | g.4933858C>T | CA497677959 | CHRNE,GP1BA | c.1254C>T (p.Ala418=) c.-888+484G>A (n.-888+484G>A) | |
| 17 | g.4933859C>A | CA397320663 | CHRNE,GP1BA | c.1255C>A (p.Pro419Thr) c.-888+483G>T (n.-888+483G>T) | gnomAD v3 gnomAD v4 |
| 17 | g.4933859C>G | CA397320664 | CHRNE,GP1BA | c.1255C>G (p.Pro419Ala) c.-888+483G>C (n.-888+483G>C) | |
| 17 | g.4933859C>T | CA397320665 | CHRNE,GP1BA | c.1255C>T (p.Pro419Ser) c.-888+483G>A (n.-888+483G>A) | gnomAD v4 |
| 17 | g.4933860C>A | CA397320667 | CHRNE,GP1BA | c.1256C>A (p.Pro419His) c.-888+482G>T (n.-888+482G>T) | |
| 17 | g.4933860C>G | CA397320669 | CHRNE,GP1BA | c.1256C>G (p.Pro419Arg) c.-888+482G>C (n.-888+482G>C) | |
| 17 | g.4933860C>T | CA397320670 | CHRNE,GP1BA | c.1256C>T (p.Pro419Leu) c.-888+482G>A (n.-888+482G>A) | |
| 17 | g.4933862_4933893del | CA2635579073 | CHRNE,GP1BA | c.1258_1289del (p.Ser420ArgfsTer?) c.-888+451_-888+482del (n.-888+451_-888+482del) c.1258_1272+17del | gnomAD v4 |
| 17 | g.4933861C>A | CA497677961 | CHRNE,GP1BA | c.1257C>A (p.Pro419=) c.-888+481G>T (n.-888+481G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933861C= | CA2244625777 | CHRNE,GP1BA | c.1257C= (p.Pro419=) c.-888+481G= (n.-888+481G=) | |
| 17 | g.4933861C>G | CA497677962 | CHRNE,GP1BA | c.1257C>G (p.Pro419=) c.-888+481G>C (n.-888+481G>C) | |
| 17 | g.4933861C>T | CA497677963 | CHRNE,GP1BA | c.1257C>T (p.Pro419=) c.-888+481G>A (n.-888+481G>A) | gnomAD v4 |
| 17 | g.4933862_4933869del | CA2635579075 | CHRNE,GP1BA | c.1258_1265del (p.Ser420HisfsTer?) c.-888+474_-888+481del (n.-888+474_-888+481del) | gnomAD v4 |
| 17 | g.4933862_4933892del | CA2635579074 | CHRNE,GP1BA | c.1258_1288del (p.Ser420ProfsTer?) c.-888+451_-888+481del (n.-888+451_-888+481del) c.1258_1272+16del | gnomAD v4 |
| 17 | g.4933862A= | CA2244625778 | CHRNE,GP1BA | c.1258A= (p.Ser420=) c.-888+480T= (n.-888+480T=) | |
| 17 | g.4933862A>C | CA397320673 | CHRNE,GP1BA | c.1258A>C (p.Ser420Arg) c.-888+480T>G (n.-888+480T>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4933862A>G | CA397320674 | CHRNE,GP1BA | c.1258A>G (p.Ser420Gly) c.-888+480T>C (n.-888+480T>C) | gnomAD v4 |
| 17 | g.4933862A>T | CA397320671 | CHRNE,GP1BA | c.1258A>T (p.Ser420Cys) c.-888+480T>A (n.-888+480T>A) | |
| 17 | g.4933862_4933863del | CA2557364225 | CHRNE,GP1BA | c.1258_1259del (p.Ser420ProfsTer?) c.-888+479_-888+480del (n.-888+479_-888+480del) | dbSNP gnomAD v4 |
| 17 | g.4933862_4933868del | CA980971969 | CHRNE,GP1BA | c.1258_1264del (p.Ser420ProfsTer?) c.-888+474_-888+480del (n.-888+474_-888+480del) c.1258_1264del (p.Ser420ProfsTer24) | gnomAD v3 gnomAD v4 |
| 17 | g.4933862_4933871del | CA2635579078 | CHRNE,GP1BA | c.1258_1267del (p.Ser420ProfsTer?) c.-888+471_-888+480del (n.-888+471_-888+480del) c.1258_1267del (p.Ser420ProfsTer23) | gnomAD v4 |
| 17 | g.4933862_4933882delinsAGCCCGACCACCCCGGAGCCC | CA2244625779 | CHRNE,GP1BA | c.1258_1278delinsAGCCCGACCACCCCGGAGCCC (p.Ser420=) c.-888+460_-888+480delinsGGGCTCCGGGGTGGTCGGGCT (n.-888+460_-888+480delinsGGGCTCCGGGGTGGTCGGGCT) c.1258_1272+6delinsAGCCCGACCACCCCGGAGCCC | |
| 17 | g.4933862_4933895del | CA980971973 | CHRNE,GP1BA | c.1258_1291del (p.Ser420ProfsTer?) c.-888+447_-888+480del (n.-888+447_-888+480del) c.1258_1272+19del | gnomAD v3 gnomAD v4 |
| 17 | g.4933863del | CA2635579086 | CHRNE,GP1BA | c.1259del (p.Ser420ThrfsTer?) c.-888+479del (n.-888+479del) c.1259del (p.Ser420ThrfsTer26) | gnomAD v4 |
| 17 | g.4933863G>A | CA397320675 | CHRNE,GP1BA | c.1259G>A (p.Ser420Asn) c.-888+479C>T (n.-888+479C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933863G>C | CA397320676 | CHRNE,GP1BA | c.1259G>C (p.Ser420Thr) c.-888+479C>G (n.-888+479C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933863G= | CA2244625780 | CHRNE,GP1BA | c.1259G= (p.Ser420=) c.-888+479C= (n.-888+479C=) | |
| 17 | g.4933863G>T | CA397320677 | CHRNE,GP1BA | c.1259G>T (p.Ser420Ile) c.-888+479C>A (n.-888+479C>A) | gnomAD v4 |
| 17 | g.4933863_4933867del | CA2635579085 | CHRNE,GP1BA | c.1259_1263del (p.Ser420AsnfsTer?) c.-888+475_-888+479del (n.-888+475_-888+479del) | gnomAD v4 |
| 17 | g.4933864_4933877del | CA2635579082 | CHRNE,GP1BA | c.1260_1273del (p.Ser420ArgfsTer?) c.-888+466_-888+479del (n.-888+466_-888+479del) c.1260_1272+1del | gnomAD v4 |
| 17 | g.4933863_4933882del | CA624856147 | CHRNE,GP1BA | c.1259_1278del (p.Ser420AsnfsTer?) c.-888+460_-888+479del (n.-888+460_-888+479del) c.1259_1272+6del | dbSNP gnomAD v2 |
| 17 | g.4933863_4933883delinsGCCCGACCACCCCGGAGCCCA | CA2244625781 | CHRNE,GP1BA | c.1259_1279delinsGCCCGACCACCCCGGAGCCCA (p.Ser420=) c.-888+459_-888+479delinsTGGGCTCCGGGGTGGTCGGGC (n.-888+459_-888+479delinsTGGGCTCCGGGGTGGTCGGGC) c.1259_1272+7delinsGCCCGACCACCCCGGAGCCCA | |
| 17 | g.4933863_4933895del | CA2635579081 | CHRNE,GP1BA | c.1259_1291del (p.Ser420_Ala431delinsThr) c.-888+447_-888+479del (n.-888+447_-888+479del) c.1259_1272+19del | gnomAD v4 |
| 17 | g.4933863_4933934del | CA2635579080 | CHRNE,GP1BA | c.1259_1330del (p.Ser420_Ala444delinsThr) c.-888+408_-888+479del (n.-888+408_-888+479del) c.1259_1273-21del | gnomAD v4 |
| 17 | g.4933864C>A | CA397320679 | CHRNE,GP1BA | c.1260C>A (p.Ser420Arg) c.-888+478G>T (n.-888+478G>T) | gnomAD v4 |
| 17 | g.4933864C>G | CA397320681 | CHRNE,GP1BA | c.1260C>G (p.Ser420Arg) c.-888+478G>C (n.-888+478G>C) | gnomAD v4 |
| 17 | g.4933864C>T | CA497677968 | CHRNE,GP1BA | c.1260C>T (p.Ser420=) c.-888+478G>A (n.-888+478G>A) | gnomAD v4 |
| 17 | g.4933864_4933885del | CA2635579088 | CHRNE,GP1BA | c.1260_1281del (p.Pro421GlnfsTer?) c.-888+457_-888+478del (n.-888+457_-888+478del) c.1260_1272+9del | gnomAD v4 |
| 17 | g.4933866_4933885del | CA624856148 | CHRNE,GP1BA | c.1262_1281del (p.Pro421LeufsTer?) c.-888+459_-888+478del (n.-888+459_-888+478del) c.1262_1272+9del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933872_4933976del | CA8314944 | CHRNE,GP1BA | c.1268_1372del (p.Thr423_Thr457del) c.-888+374_-888+478del (n.-888+374_-888+478del) c.1268_1294del | ExAC gnomAD v3 gnomAD v4 |
| 17 | g.4933865C>A | CA397320683 | CHRNE,GP1BA | c.1261C>A (p.Pro421Thr) c.-888+477G>T (n.-888+477G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933865C= | CA2244625782 | CHRNE,GP1BA | c.1261C= (p.Pro421=) c.-888+477G= (n.-888+477G=) | |
| 17 | g.4933865C>G | CA397320684 | CHRNE,GP1BA | c.1261C>G (p.Pro421Ala) c.-888+477G>C (n.-888+477G>C) | |
| 17 | g.4933865C>T | CA397320686 | CHRNE,GP1BA | c.1261C>T (p.Pro421Ser) c.-888+477G>A (n.-888+477G>A) | gnomAD v4 |
| 17 | g.4933865_4933867del | CA2635579090 | CHRNE,GP1BA | c.1261_1263del (p.Pro421del) c.-888+475_-888+477del (n.-888+475_-888+477del) | gnomAD v4 |
| 17 | g.4933867_4933885del | CA2635579091 | CHRNE,GP1BA | c.1263_1281del (p.Thr422GlnfsTer?) c.-888+459_-888+477del (n.-888+459_-888+477del) c.1263_1272+9del | gnomAD v4 |
| 17 | g.4933866C>A | CA397320688 | CHRNE,GP1BA | c.1262C>A (p.Pro421Gln) c.-888+476G>T (n.-888+476G>T) | gnomAD v4 |
| 17 | g.4933866C= | CA2244625783 | CHRNE,GP1BA | c.1262C= (p.Pro421=) c.-888+476G= (n.-888+476G=) | |
| 17 | g.4933866C>G | CA397320690 | CHRNE,GP1BA | c.1262C>G (p.Pro421Arg) c.-888+476G>C (n.-888+476G>C) | |
| 17 | g.4933866C>T | CA8314945 | CHRNE,GP1BA | c.1262C>T (p.Pro421Leu) c.-888+476G>A (n.-888+476G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933867_4933869del | CA2576136025 | CHRNE,GP1BA | c.1263_1265del (p.Thr422del) c.-888+474_-888+476del (n.-888+474_-888+476del) | gnomAD v4 |
| 17 | g.4933867G>A | CA8314946 | CHRNE,GP1BA | c.1263G>A (p.Pro421=) c.-888+475C>T (n.-888+475C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933867G>C | CA497677974 | CHRNE,GP1BA | c.1263G>C (p.Pro421=) c.-888+475C>G (n.-888+475C>G) | dbSNP gnomAD v4 |
| 17 | g.4933867G= | CA2244625784 | CHRNE,GP1BA | c.1263G= (p.Pro421=) c.-888+475C= (n.-888+475C=) | |
| 17 | g.4933867G>T | CA497677972 | CHRNE,GP1BA | c.1263G>T (p.Pro421=) c.-888+475C>A (n.-888+475C>A) | |
| 17 | g.4933867_4933868del | CA2573054471 | CHRNE,GP1BA | c.1263_1264del (p.Thr422HisfsTer?) c.-888+474_-888+475del (n.-888+474_-888+475del) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933867_4933871del | CA2635579101 | CHRNE,GP1BA | c.1263_1267del (p.Thr422ProfsTer?) c.-888+471_-888+475del (n.-888+471_-888+475del) | gnomAD v4 |
| 17 | g.4933868del | CA2635579103 | CHRNE,GP1BA | c.1264del (p.Thr422ProfsTer?) c.-888+474del (n.-888+474del) c.1264del (p.Thr422ProfsTer24) | gnomAD v4 |
| 17 | g.4933868A= | CA2244625786 | CHRNE,GP1BA | c.1264A= (p.Thr422=) c.-888+474T= (n.-888+474T=) | |
| 17 | g.4933868A>C | CA397320693 | CHRNE,GP1BA | c.1264A>C (p.Thr422Pro) c.-888+474T>G (n.-888+474T>G) | gnomAD v4 |
| 17 | g.4933868A>G | CA397320694 | CHRNE,GP1BA | c.1264A>G (p.Thr422Ala) c.-888+474T>C (n.-888+474T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933868A>T | CA397320696 | CHRNE,GP1BA | c.1264A>T (p.Thr422Ser) c.-888+474T>A (n.-888+474T>A) | gnomAD v4 |
| 17 | g.4933868_4933871del | CA2635579104 | CHRNE,GP1BA | c.1264_1267del (p.Thr422ProfsTer?) c.-888+471_-888+474del (n.-888+471_-888+474del) c.1264_1267del (p.Thr422ProfsTer23) | gnomAD v4 |
| 17 | g.4933868_4933884delinsACCACCCCGGAGCCCAC | CA2244625785 | CHRNE,GP1BA | c.1264_1280delinsACCACCCCGGAGCCCAC (p.Thr422=) c.-888+458_-888+474delinsGTGGGCTCCGGGGTGGT (n.-888+458_-888+474delinsGTGGGCTCCGGGGTGGT) c.1264_1272+8delinsACCACCCCGGAGCCCAC | |
| 17 | g.4933869C>A | CA397320700 | CHRNE,GP1BA | c.1265C>A (p.Thr422Asn) c.-888+473G>T (n.-888+473G>T) | gnomAD v4 |
| 17 | g.4933869C>G | CA397320698 | CHRNE,GP1BA | c.1265C>G (p.Thr422Ser) c.-888+473G>C (n.-888+473G>C) | |
| 17 | g.4933869C>T | CA397320697 | CHRNE,GP1BA | c.1265C>T (p.Thr422Ile) c.-888+473G>A (n.-888+473G>A) | |
| 17 | g.4933870dup | CA2808297185 | CHRNE,GP1BA | c.1266dup (p.Thr423HisfsTer?) c.-888+473dup (n.-888+473dup) | |
| 17 | g.4933871_4933875del | CA2635579120 | CHRNE,GP1BA | c.1267_1271del (p.Thr423GlyfsTer?) c.-888+469_-888+473del (n.-888+469_-888+473del) | gnomAD v4 |
| 17 | g.4933870_4933885del | CA8314947 | CHRNE,GP1BA | c.1266_1281del (p.Thr423GlnfsTer?) c.-888+458_-888+473del (n.-888+458_-888+473del) c.1266_1272+9del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933876_4933965del | CA2635579121 | CHRNE,GP1BA | c.1272_1361del (p.Glu425_Pro454del) c.-888+384_-888+473del (n.-888+384_-888+473del) c.1272_1283del | gnomAD v4 |
| 17 | g.4933870C>A | CA497677981 | CHRNE,GP1BA | c.1266C>A (p.Thr422=) c.-888+472G>T (n.-888+472G>T) | gnomAD v4 |
| 17 | g.4933870C= | CA2244625787 | CHRNE,GP1BA | c.1266C= (p.Thr422=) c.-888+472G= (n.-888+472G=) | |
| 17 | g.4933870C>G | CA497677980 | CHRNE,GP1BA | c.1266C>G (p.Thr422=) c.-888+472G>C (n.-888+472G>C) | |
| 17 | g.4933870C>T | CA497677982 | CHRNE,GP1BA | c.1266C>T (p.Thr422=) c.-888+472G>A (n.-888+472G>A) | dbSNP gnomAD v4 |
| 17 | g.4933870_4933945del | CA2808297187 | CHRNE,GP1BA | c.1266_1341del (p.Thr423ProfsTer24) c.-888+397_-888+472del (n.-888+397_-888+472del) c.1266_1273-10del | |
| 17 | g.4933871del | CA2635579125 | CHRNE,GP1BA | c.1267del (p.Thr423ProfsTer?) c.-888+471del (n.-888+471del) c.1267del (p.Thr423ProfsTer23) | dbSNP gnomAD v4 |
| 17 | g.4933871A= | CA2244625788 | CHRNE,GP1BA | c.1267A= (p.Thr423=) c.-888+471T= (n.-888+471T=) | |
| 17 | g.4933871A>C | CA397320702 | CHRNE,GP1BA | c.1267A>C (p.Thr423Pro) c.-888+471T>G (n.-888+471T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933871A>G | CA397320703 | CHRNE,GP1BA | c.1267A>G (p.Thr423Ala) c.-888+471T>C (n.-888+471T>C) | dbSNP |
| 17 | g.4933871A>T | CA397320705 | CHRNE,GP1BA | c.1267A>T (p.Thr423Ser) c.-888+471T>A (n.-888+471T>A) | |
| 17 | g.4933871_4933872insT | CA2635579128 | CHRNE,GP1BA | c.1267_1268insT (p.Thr423IlefsTer?) c.-888+470_-888+471insA (n.-888+470_-888+471insA) | gnomAD v4 |
| 17 | g.4933872C>A | CA397320706 | CHRNE,GP1BA | c.1268C>A (p.Thr423Asn) c.-888+470G>T (n.-888+470G>T) | |
| 17 | g.4933872C= | CA2244625789 | CHRNE,GP1BA | c.1268C= (p.Thr423=) c.-888+470G= (n.-888+470G=) | |
| 17 | g.4933872C>G | CA397320708 | CHRNE,GP1BA | c.1268C>G (p.Thr423Ser) c.-888+470G>C (n.-888+470G>C) | |
| 17 | g.4933872C>T | CA397320709 | CHRNE,GP1BA | c.1268C>T (p.Thr423Ile) c.-888+470G>A (n.-888+470G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933872_4933877del | CA2635579129 | CHRNE,GP1BA | c.1268_1273del (p.Thr423_Glu425delinsLys) c.-888+465_-888+470del (n.-888+465_-888+470del) c.1268_1272+1del | gnomAD v4 |
| 17 | g.4933872_4933883delinsCCCCGGAGCCCA | CA2244625790 | CHRNE,GP1BA | c.1268_1279delinsCCCCGGAGCCCA (p.Thr423=) c.-888+459_-888+470delinsTGGGCTCCGGGG (n.-888+459_-888+470delinsTGGGCTCCGGGG) c.1268_1272+7delinsCCCCGGAGCCCA | |
| 17 | g.4933872_4933885del | CA2635579130 | CHRNE,GP1BA | c.1268_1281del (p.Thr423IlefsTer?) c.-888+457_-888+470del (n.-888+457_-888+470del) c.1268_1272+9del | gnomAD v4 |
| 17 | g.4933873C>A | CA497677986 | CHRNE,GP1BA | c.1269C>A (p.Thr423=) c.-888+469G>T (n.-888+469G>T) | gnomAD v4 |
| 17 | g.4933873C= | CA2244625791 | CHRNE,GP1BA | c.1269C= (p.Thr423=) c.-888+469G= (n.-888+469G=) | |
| 17 | g.4933873C>G | CA497677987 | CHRNE,GP1BA | c.1269C>G (p.Thr423=) c.-888+469G>C (n.-888+469G>C) | gnomAD v4 |
| 17 | g.4933873C>T | CA8314948 | CHRNE,GP1BA | c.1269C>T (p.Thr423=) c.-888+469G>A (n.-888+469G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933875_4933885del | CA624856149 | CHRNE,GP1BA | c.1271_1281del (p.Pro424LeufsTer?) c.-888+459_-888+469del (n.-888+459_-888+469del) c.1271_1272+9del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933874C>A | CA397320712 | CHRNE,GP1BA | c.1270C>A (p.Pro424Thr) c.-888+468G>T (n.-888+468G>T) | |
| 17 | g.4933874C>G | CA397320715 | CHRNE,GP1BA | c.1270C>G (p.Pro424Ala) c.-888+468G>C (n.-888+468G>C) | |
| 17 | g.4933874C>T | CA397320713 | CHRNE,GP1BA | c.1270C>T (p.Pro424Ser) c.-888+468G>A (n.-888+468G>A) | |
| 17 | g.4933876_4933885del | CA2808297189 | CHRNE,GP1BA | c.1272_1281del (p.Glu425GlnfsTer?) c.-888+459_-888+468del (n.-888+459_-888+468del) c.1272_1272+9del | |
| 17 | g.4933876_4933904del | CA2635579135 | CHRNE,GP1BA | c.1272_1300del (p.Glu425AspfsTer?) c.-888+440_-888+468del (n.-888+440_-888+468del) c.1272_1272+28del | gnomAD v4 |
| 17 | g.4933876_4933909del | CA2635579136 | CHRNE,GP1BA | c.1272_1305del (p.Glu425ProfsTer?) c.-888+435_-888+468del (n.-888+435_-888+468del) c.1272_1272+33del | gnomAD v4 |
| 17 | g.4933875C>A | CA397320717 | CHRNE,GP1BA | c.1271C>A (p.Pro424Gln) c.-888+467G>T (n.-888+467G>T) | |
| 17 | g.4933875C= | CA2244625792 | CHRNE,GP1BA | c.1271C= (p.Pro424=) c.-888+467G= (n.-888+467G=) | |
| 17 | g.4933875C>G | CA397320718 | CHRNE,GP1BA | c.1271C>G (p.Pro424Arg) c.-888+467G>C (n.-888+467G>C) | |
| 17 | g.4933875C>T | CA8314949 | CHRNE,GP1BA | c.1271C>T (p.Pro424Leu) c.-888+467G>A (n.-888+467G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933875_4933877delinsCGG | CA2244625793 | CHRNE,GP1BA | c.1271_1273delinsCGG (p.Pro424=) c.-888+465_-888+467delinsCCG (n.-888+465_-888+467delinsCCG) c.1271_1272+1delinsCGG | |
| 17 | g.4933875_4933876insACAA | CA2635579144 | CHRNE,GP1BA | c.1271_1272insACAA (p.Glu425GlnfsTer?) c.-888+466_-888+467insTTGT (n.-888+466_-888+467insTTGT) | gnomAD v4 |
| 17 | g.4933876G>A | CA287217225 | CHRNE,GP1BA | c.1272G>A (p.Pro424=) c.-888+466C>T (n.-888+466C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933876G>C | CA497677992 | CHRNE,GP1BA | c.1272G>C (p.Pro424=) c.-888+466C>G (n.-888+466C>G) | dbSNP gnomAD v4 |
| 17 | g.4933876G= | CA2244625794 | CHRNE,GP1BA | c.1272G= (p.Pro424=) c.-888+466C= (n.-888+466C=) | |
| 17 | g.4933876G>T | CA497677993 | CHRNE,GP1BA | c.1272G>T (p.Pro424=) c.-888+466C>A (n.-888+466C>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4933876_4933877del | CA980972008 | CHRNE,GP1BA | c.1272_1273del (p.Glu425AlafsTer?) c.-888+465_-888+466del (n.-888+465_-888+466del) c.1272_1272+1del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933876_4933878delinsGGA | CA2244625795 | CHRNE,GP1BA | c.1272_1274delinsGGA (p.Pro424=) c.-888+464_-888+466delinsTCC (n.-888+464_-888+466delinsTCC) c.1272_1272+2delinsGGA | |
| 17 | g.4933876_4933879del | CA2635579142 | CHRNE,GP1BA | c.1272_1275del (p.Glu425ProfsTer?) c.-888+463_-888+466del (n.-888+463_-888+466del) c.1272_1272+3del | gnomAD v4 |
| 17 | g.4933876_4933891del | CA2808297195 | CHRNE,GP1BA | c.1272_1287del (p.Glu425ProfsTer?) c.-888+451_-888+466del (n.-888+451_-888+466del) c.1272_1272+15del | |
| 17 | g.4933876_4933895del | CA2635579140 | CHRNE,GP1BA | c.1272_1291del (p.Glu425ProfsTer?) c.-888+447_-888+466del (n.-888+447_-888+466del) c.1272_1272+19del | gnomAD v4 |
| 17 | g.4933876_4933907del | CA2635579145 | CHRNE,GP1BA | c.1272_1303del (p.Glu425HisfsTer?) c.-888+435_-888+466del (n.-888+435_-888+466del) c.1272_1272+31del | gnomAD v4 |
| 17 | g.4933876_4933915delinsGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA | CA2244625796 | CHRNE,GP1BA | c.1272_1311delinsGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Pro424=) c.-888+427_-888+466delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCC (n.-888+427_-888+466delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCC) c.1272_1273-40delinsGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA | |
| 17 | g.4933877G>A | CA397320726 | CHRNE,GP1BA | c.1273G>A (p.Glu425Lys) c.-888+465C>T (n.-888+465C>T) c.1272+1G>A (n.1272+1G>A) | |
| 17 | g.4933877G>C | CA397320725 | CHRNE,GP1BA | c.1273G>C (p.Glu425Gln) c.-888+465C>G (n.-888+465C>G) c.1272+1G>C (n.1272+1G>C) | |
| 17 | g.4933877G>T | CA397320727 | CHRNE,GP1BA | c.1273G>T (p.Glu425Ter) c.-888+465C>A (n.-888+465C>A) c.1272+1G>T (n.1272+1G>T) | |
| 17 | g.4933878_4933879del | CA8314951 | CHRNE,GP1BA | c.1274_1275del (p.Glu425AlafsTer?) c.-888+464_-888+465del (n.-888+464_-888+465del) c.1272+2_1272+3del (n.1272+2_1272+3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933883_4933894del | CA2635579152 | CHRNE,GP1BA | c.1279_1290del (p.Thr427_Pro430del) c.-888+454_-888+465del (n.-888+454_-888+465del) c.1272+7_1272+18del (n.1272+7_1272+18del) | gnomAD v4 |
| 17 | g.4933915_4933953del | CA8314950 | CHRNE,GP1BA | c.1311_1349del (p.Glu438_Pro450del) c.-888+427_-888+465del (n.-888+427_-888+465del) c.1273-40_1273-2del (n.1273-40_1273-2del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933878del | CA2553631673 | CHRNE,GP1BA | c.1274del (p.Glu425GlyfsTer?) c.-888+464del (n.-888+464del) c.1272+2del (n.1272+2del) | |
| 17 | g.4933878A= | CA2244625797 | CHRNE,GP1BA | c.1274A= (p.Glu425=) c.-888+464T= (n.-888+464T=) c.1272+2A= (n.1272+2A=) | |
| 17 | g.4933878A>C | CA8314953 | CHRNE,GP1BA | c.1274A>C (p.Glu425Ala) c.-888+464T>G (n.-888+464T>G) c.1272+2A>C (n.1272+2A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933878A>G | CA397320729 | CHRNE,GP1BA | c.1274A>G (p.Glu425Gly) c.-888+464T>C (n.-888+464T>C) c.1272+2A>G (n.1272+2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933878A>T | CA397320730 | CHRNE,GP1BA | c.1274A>T (p.Glu425Val) c.-888+464T>A (n.-888+464T>A) c.1272+2A>T (n.1272+2A>T) | gnomAD v3 gnomAD v4 |
| 17 | g.4933878_4933882delinsAGCCC | CA2244625798 | CHRNE,GP1BA | c.1274_1278delinsAGCCC (p.Glu425=) c.-888+460_-888+464delinsGGGCT (n.-888+460_-888+464delinsGGGCT) c.1272+2_1272+6delinsAGCCC (n.1272+2_1272+6delinsAGCCC) | |
| 17 | g.4933878_4933954delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG | CA2244625799 | CHRNE,GP1BA | c.1274_1350delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (p.Glu425=) c.-888+388_-888+464delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCT (n.-888+388_-888+464delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCT) c.1272+2_1273-1delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (n.1272+2_1273-1delinsAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG) | |
| 17 | g.4933879G>A | CA497678006 | CHRNE,GP1BA | c.1275G>A (p.Glu425=) c.-888+463C>T (n.-888+463C>T) c.1272+3G>A (n.1272+3G>A) | dbSNP |
| 17 | g.4933879G>C | CA397320732 | CHRNE,GP1BA | c.1275G>C (p.Glu425Asp) c.-888+463C>G (n.-888+463C>G) c.1272+3G>C (n.1272+3G>C) | |
| 17 | g.4933879G= | CA2244625801 | CHRNE,GP1BA | c.1275G= (p.Glu425=) c.-888+463C= (n.-888+463C=) c.1272+3G= (n.1272+3G=) | |
| 17 | g.4933879G>T | CA397320735 | CHRNE,GP1BA | c.1275G>T (p.Glu425Asp) c.-888+463C>A (n.-888+463C>A) c.1272+3G>T (n.1272+3G>T) | |
| 17 | g.4933879_4933882del | CA8314952 | CHRNE,GP1BA | c.1275_1278del (p.Thr427GlnfsTer?) c.-888+460_-888+463del (n.-888+460_-888+463del) c.1272+3_1272+6del (n.1272+3_1272+6del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933879_4933884delinsGCCCAC | CA2244625800 | CHRNE,GP1BA | c.1275_1280delinsGCCCAC (p.Glu425=) c.-888+458_-888+463delinsGTGGGC (n.-888+458_-888+463delinsGTGGGC) c.1272+3_1272+8delinsGCCCAC (n.1272+3_1272+8delinsGCCCAC) | |
| 17 | g.4933880_4933955del | CA980972020 | CHRNE,GP1BA | c.1276_1351del (p.Pro426SerfsTer21) c.-888+388_-888+463del (n.-888+388_-888+463del) c.1272+4_1273del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933880C>A | CA397320737 | CHRNE,GP1BA | c.1276C>A (p.Pro426Thr) c.-888+462G>T (n.-888+462G>T) c.1272+4C>A (n.1272+4C>A) | gnomAD v4 |
| 17 | g.4933880C>G | CA397320740 | CHRNE,GP1BA | c.1276C>G (p.Pro426Ala) c.-888+462G>C (n.-888+462G>C) c.1272+4C>G (n.1272+4C>G) | |
| 17 | g.4933880C>T | CA397320739 | CHRNE,GP1BA | c.1276C>T (p.Pro426Ser) c.-888+462G>A (n.-888+462G>A) c.1272+4C>T (n.1272+4C>T) | |
| 17 | g.4933882del | CA2576136026 | CHRNE,GP1BA | c.1278del (p.Thr427ProfsTer?) c.-888+462del (n.-888+462del) c.1272+6del (n.1272+6del) | |
| 17 | g.4933881_4933882del | CA2635579165 | CHRNE,GP1BA | c.1277_1278del (p.Pro426HisfsTer?) c.-888+461_-888+462del (n.-888+461_-888+462del) c.1272+5_1272+6del (n.1272+5_1272+6del) | gnomAD v4 |
| 17 | g.4933880_4933885del | CA2635579166 | CHRNE,GP1BA | c.1276_1281del (p.Pro426_Thr427del) c.-888+457_-888+462del (n.-888+457_-888+462del) c.1272+4_1272+9del (n.1272+4_1272+9del) | gnomAD v4 |
| 17 | g.4933882_4933885del | CA8314954 | CHRNE,GP1BA | c.1278_1281del (p.Thr427GlnfsTer?) c.-888+459_-888+462del (n.-888+459_-888+462del) c.1272+6_1272+9del (n.1272+6_1272+9del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.4933881_4933885del | CA624856150 | CHRNE,GP1BA | c.1277_1281del (p.Pro426LeufsTer?) c.-888+458_-888+462del (n.-888+458_-888+462del) c.1272+5_1272+9del (n.1272+5_1272+9del) | dbSNP gnomAD v2 |
| 17 | g.4933880_4933917del | CA2535530941 | CHRNE,GP1BA | c.1276_1313del (p.Pro426AlafsTer?) c.-888+425_-888+462del (n.-888+425_-888+462del) c.1272+4_1273-38del (n.1272+4_1273-38del) | |
| 17 | g.4933880_4933917delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA | CA2244625802 | CHRNE,GP1BA | c.1276_1313delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (p.Pro426=) c.-888+425_-888+462delinsTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGG (n.-888+425_-888+462delinsTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGG) c.1272+4_1273-38delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA (n.1272+4_1273-38delinsCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGA) | |
| 17 | g.4933881C>A | CA397320741 | CHRNE,GP1BA | c.1277C>A (p.Pro426His) c.-888+461G>T (n.-888+461G>T) c.1272+5C>A (n.1272+5C>A) | |
| 17 | g.4933881C>G | CA397320745 | CHRNE,GP1BA | c.1277C>G (p.Pro426Arg) c.-888+461G>C (n.-888+461G>C) c.1272+5C>G (n.1272+5C>G) | |
| 17 | g.4933881C>T | CA397320744 | CHRNE,GP1BA | c.1277C>T (p.Pro426Leu) c.-888+461G>A (n.-888+461G>A) c.1272+5C>T (n.1272+5C>T) | |
| 17 | g.4933881_4933888del | CA2635579173 | CHRNE,GP1BA | c.1277_1284del (p.Pro426ArgfsTer?) c.-888+454_-888+461del (n.-888+454_-888+461del) c.1272+5_1272+12del (n.1272+5_1272+12del) | gnomAD v4 |
| 17 | g.4933886_4933912del | CA2635579171 | CHRNE,GP1BA | c.1282_1308del (p.Ser428_Thr436del) c.-888+435_-888+461del (n.-888+435_-888+461del) c.1272+10_1272+36del (n.1272+10_1272+36del) | gnomAD v4 |
| 17 | g.4933881_4933915del | CA2635579168 | CHRNE,GP1BA | c.1277_1311del (p.Pro426ArgfsTer?) c.-888+427_-888+461del (n.-888+427_-888+461del) c.1272+5_1273-40del (n.1272+5_1273-40del) | gnomAD v4 |
| 17 | g.4933881_4933917del | CA8314955 | CHRNE,GP1BA | c.1277_1313del (p.Pro426ArgfsTer?) c.-888+425_-888+461del (n.-888+425_-888+461del) c.1272+5_1273-38del (n.1272+5_1273-38del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933882C>A | CA497678014 | CHRNE,GP1BA | c.1278C>A (p.Pro426=) c.-888+460G>T (n.-888+460G>T) c.1272+6C>A (n.1272+6C>A) | |
| 17 | g.4933882C= | CA2244625803 | CHRNE,GP1BA | c.1278C= (p.Pro426=) c.-888+460G= (n.-888+460G=) c.1272+6C= (n.1272+6C=) | |
| 17 | g.4933882C>G | CA497678012 | CHRNE,GP1BA | c.1278C>G (p.Pro426=) c.-888+460G>C (n.-888+460G>C) c.1272+6C>G (n.1272+6C>G) | |
| 17 | g.4933882C>T | CA497678013 | CHRNE,GP1BA | c.1278C>T (p.Pro426=) c.-888+460G>A (n.-888+460G>A) c.1272+6C>T (n.1272+6C>T) | dbSNP gnomAD v2 gnomAD v4 |