| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932992T>A | CA397316258 | CHRNE,GP1BA | c.388T>A (p.Ser130Thr) c.-888+1350A>T (n.-888+1350A>T) | |
| 17 | g.4932992T>C | CA397316253 | CHRNE,GP1BA | c.388T>C (p.Ser130Pro) c.-888+1350A>G (n.-888+1350A>G) | |
| 17 | g.4932992T>G | CA397316251 | CHRNE,GP1BA | c.388T>G (p.Ser130Ala) c.-888+1350A>C (n.-888+1350A>C) | |
| 17 | g.4932993C>A | CA397316261 | CHRNE,GP1BA | c.389C>A (p.Ser130Ter) c.-888+1349G>T (n.-888+1349G>T) | |
| 17 | g.4932993C= | CA2244625388 | CHRNE,GP1BA | c.389C= (p.Ser130=) c.-888+1349G= (n.-888+1349G=) | |
| 17 | g.4932993C>G | CA397316260 | CHRNE,GP1BA | c.389C>G (p.Ser130Trp) c.-888+1349G>C (n.-888+1349G>C) | |
| 17 | g.4932993C>T | CA8314762 | CHRNE,GP1BA | c.389C>T (p.Ser130Leu) c.-888+1349G>A (n.-888+1349G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932994G>A | CA8314763 | CHRNE,GP1BA | c.390G>A (p.Ser130=) c.-888+1348C>T (n.-888+1348C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932994G>C | CA497677303 | CHRNE,GP1BA | c.390G>C (p.Ser130=) c.-888+1348C>G (n.-888+1348C>G) | |
| 17 | g.4932994G= | CA2244625389 | CHRNE,GP1BA | c.390G= (p.Ser130=) c.-888+1348C= (n.-888+1348C=) | |
| 17 | g.4932994G>T | CA497677304 | CHRNE,GP1BA | c.390G>T (p.Ser130=) c.-888+1348C>A (n.-888+1348C>A) | |
| 17 | g.4932995C>A | CA397316265 | CHRNE,GP1BA | c.391C>A (p.Leu131Met) c.-888+1347G>T (n.-888+1347G>T) | gnomAD v4 |
| 17 | g.4932995C= | CA2244625390 | CHRNE,GP1BA | c.391C= (p.Leu131=) c.-888+1347G= (n.-888+1347G=) | |
| 17 | g.4932995C>G | CA397316267 | CHRNE,GP1BA | c.391C>G (p.Leu131Val) c.-888+1347G>C (n.-888+1347G>C) | |
| 17 | g.4932995C>T | CA497677307 | CHRNE,GP1BA | c.391C>T (p.Leu131=) c.-888+1347G>A (n.-888+1347G>A) | dbSNP |
| 17 | g.4932996T>A | CA397316269 | CHRNE,GP1BA | c.392T>A (p.Leu131Gln) c.-888+1346A>T (n.-888+1346A>T) | |
| 17 | g.4932996T>C | CA397316271 | CHRNE,GP1BA | c.392T>C (p.Leu131Pro) c.-888+1346A>G (n.-888+1346A>G) | |
| 17 | g.4932996T>G | CA397316272 | CHRNE,GP1BA | c.392T>G (p.Leu131Arg) c.-888+1346A>C (n.-888+1346A>C) | |
| 17 | g.4932997G>A | CA497677308 | CHRNE,GP1BA | c.393G>A (p.Leu131=) c.-888+1345C>T (n.-888+1345C>T) | |
| 17 | g.4932997G>C | CA497677309 | CHRNE,GP1BA | c.393G>C (p.Leu131=) c.-888+1345C>G (n.-888+1345C>G) | |
| 17 | g.4932997G>T | CA497677311 | CHRNE,GP1BA | c.393G>T (p.Leu131=) c.-888+1345C>A (n.-888+1345C>A) | |
| 17 | g.4932998C>A | CA397316273 | CHRNE,GP1BA | c.394C>A (p.Pro132Thr) c.-888+1344G>T (n.-888+1344G>T) | |
| 17 | g.4932998C>G | CA397316275 | CHRNE,GP1BA | c.394C>G (p.Pro132Ala) c.-888+1344G>C (n.-888+1344G>C) | |
| 17 | g.4932998C>T | CA397316277 | CHRNE,GP1BA | c.394C>T (p.Pro132Ser) c.-888+1344G>A (n.-888+1344G>A) | gnomAD v4 |
| 17 | g.4932999C>A | CA397316279 | CHRNE,GP1BA | c.395C>A (p.Pro132His) c.-888+1343G>T (n.-888+1343G>T) | |
| 17 | g.4932999C= | CA2244625391 | CHRNE,GP1BA | c.395C= (p.Pro132=) c.-888+1343G= (n.-888+1343G=) | |
| 17 | g.4932999C>G | CA397316280 | CHRNE,GP1BA | c.395C>G (p.Pro132Arg) c.-888+1343G>C (n.-888+1343G>C) | |
| 17 | g.4932999C>T | CA8314764 | CHRNE,GP1BA | c.395C>T (p.Pro132Leu) c.-888+1343G>A (n.-888+1343G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933000T>A | CA497677312 | CHRNE,GP1BA | c.396T>A (p.Pro132=) c.-888+1342A>T (n.-888+1342A>T) | |
| 17 | g.4933000T>C | CA8314765 | CHRNE,GP1BA | c.396T>C (p.Pro132=) c.-888+1342A>G (n.-888+1342A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933000T>G | CA497677313 | CHRNE,GP1BA | c.396T>G (p.Pro132=) c.-888+1342A>C (n.-888+1342A>C) | |
| 17 | g.4933000T= | CA2244625392 | CHRNE,GP1BA | c.396T= (p.Pro132=) c.-888+1342A= (n.-888+1342A=) | |
| 17 | g.4933001C>A | CA397316286 | CHRNE,GP1BA | c.397C>A (p.Leu133Ile) c.-888+1341G>T (n.-888+1341G>T) | |
| 17 | g.4933001C>G | CA397316285 | CHRNE,GP1BA | c.397C>G (p.Leu133Val) c.-888+1341G>C (n.-888+1341G>C) | |
| 17 | g.4933001C>T | CA397316283 | CHRNE,GP1BA | c.397C>T (p.Leu133Phe) c.-888+1341G>A (n.-888+1341G>A) | |
| 17 | g.4933002T>A | CA397316288 | CHRNE,GP1BA | c.398T>A (p.Leu133His) c.-888+1340A>T (n.-888+1340A>T) | |
| 17 | g.4933002T>C | CA397316290 | CHRNE,GP1BA | c.398T>C (p.Leu133Pro) c.-888+1340A>G (n.-888+1340A>G) | gnomAD v4 |
| 17 | g.4933002T>G | CA397316291 | CHRNE,GP1BA | c.398T>G (p.Leu133Arg) c.-888+1340A>C (n.-888+1340A>C) | |
| 17 | g.4933003T>A | CA497677315 | CHRNE,GP1BA | c.399T>A (p.Leu133=) c.-888+1339A>T (n.-888+1339A>T) | |
| 17 | g.4933003T>C | CA497677317 | CHRNE,GP1BA | c.399T>C (p.Leu133=) c.-888+1339A>G (n.-888+1339A>G) | gnomAD v4 |
| 17 | g.4933003T>G | CA497677319 | CHRNE,GP1BA | c.399T>G (p.Leu133=) c.-888+1339A>C (n.-888+1339A>C) | |
| 17 | g.4933004G>A | CA397316292 | CHRNE,GP1BA | c.400G>A (p.Gly134Ser) c.-888+1338C>T (n.-888+1338C>T) | |
| 17 | g.4933004G>C | CA397316293 | CHRNE,GP1BA | c.400G>C (p.Gly134Arg) c.-888+1338C>G (n.-888+1338C>G) | |
| 17 | g.4933004G>T | CA397316294 | CHRNE,GP1BA | c.400G>T (p.Gly134Cys) c.-888+1338C>A (n.-888+1338C>A) | |
| 17 | g.4933005G>A | CA397316296 | CHRNE,GP1BA | c.401G>A (p.Gly134Asp) c.-888+1337C>T (n.-888+1337C>T) | |
| 17 | g.4933005G>C | CA397316297 | CHRNE,GP1BA | c.401G>C (p.Gly134Ala) c.-888+1337C>G (n.-888+1337C>G) | |
| 17 | g.4933005G>T | CA397316299 | CHRNE,GP1BA | c.401G>T (p.Gly134Val) c.-888+1337C>A (n.-888+1337C>A) | |
| 17 | g.4933006T>A | CA497677321 | CHRNE,GP1BA | c.402T>A (p.Gly134=) c.-888+1336A>T (n.-888+1336A>T) | |
| 17 | g.4933006T>C | CA8314766 | CHRNE,GP1BA | c.402T>C (p.Gly134=) c.-888+1336A>G (n.-888+1336A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933006T>G | CA497677323 | CHRNE,GP1BA | c.402T>G (p.Gly134=) c.-888+1336A>C (n.-888+1336A>C) | |
| 17 | g.4933006T= | CA2244625393 | CHRNE,GP1BA | c.402T= (p.Gly134=) c.-888+1336A= (n.-888+1336A=) | |
| 17 | g.4933007G>A | CA397316301 | CHRNE,GP1BA | c.403G>A (p.Ala135Thr) c.-888+1335C>T (n.-888+1335C>T) | COSMIC |
| 17 | g.4933007G>C | CA397316302 | CHRNE,GP1BA | c.403G>C (p.Ala135Pro) c.-888+1335C>G (n.-888+1335C>G) | |
| 17 | g.4933007G>T | CA397316305 | CHRNE,GP1BA | c.403G>T (p.Ala135Ser) c.-888+1335C>A (n.-888+1335C>A) | |
| 17 | g.4933008C>A | CA397316308 | CHRNE,GP1BA | c.404C>A (p.Ala135Asp) c.-888+1334G>T (n.-888+1334G>T) | |
| 17 | g.4933008C= | CA2244625394 | CHRNE,GP1BA | c.404C= (p.Ala135=) c.-888+1334G= (n.-888+1334G=) | |
| 17 | g.4933008C>G | CA397316309 | CHRNE,GP1BA | c.404C>G (p.Ala135Gly) c.-888+1334G>C (n.-888+1334G>C) | |
| 17 | g.4933008C>T | CA397316306 | CHRNE,GP1BA | c.404C>T (p.Ala135Val) c.-888+1334G>A (n.-888+1334G>A) | dbSNP |
| 17 | g.4933010del | CA2635578688 | CHRNE,GP1BA | c.406del (p.Leu136CysfsTer12) c.-888+1334del (n.-888+1334del) | gnomAD v4 |
| 17 | g.4933009C>A | CA497677326 | CHRNE,GP1BA | c.405C>A (p.Ala135=) c.-888+1333G>T (n.-888+1333G>T) | |
| 17 | g.4933009C>G | CA497677327 | CHRNE,GP1BA | c.405C>G (p.Ala135=) c.-888+1333G>C (n.-888+1333G>C) | |
| 17 | g.4933009C>T | CA497677328 | CHRNE,GP1BA | c.405C>T (p.Ala135=) c.-888+1333G>A (n.-888+1333G>A) | |
| 17 | g.4933010C>A | CA397316311 | CHRNE,GP1BA | c.406C>A (p.Leu136Met) c.-888+1332G>T (n.-888+1332G>T) | |
| 17 | g.4933010C= | CA2244625395 | CHRNE,GP1BA | c.406C= (p.Leu136=) c.-888+1332G= (n.-888+1332G=) | |
| 17 | g.4933010C>G | CA397316312 | CHRNE,GP1BA | c.406C>G (p.Leu136Val) c.-888+1332G>C (n.-888+1332G>C) | |
| 17 | g.4933010C>T | CA497677330 | CHRNE,GP1BA | c.406C>T (p.Leu136=) c.-888+1332G>A (n.-888+1332G>A) | dbSNP |
| 17 | g.4933011T>A | CA397316313 | CHRNE,GP1BA | c.407T>A (p.Leu136Gln) c.-888+1331A>T (n.-888+1331A>T) | |
| 17 | g.4933011T>C | CA397316315 | CHRNE,GP1BA | c.407T>C (p.Leu136Pro) c.-888+1331A>G (n.-888+1331A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933011T>G | CA397316316 | CHRNE,GP1BA | c.407T>G (p.Leu136Arg) c.-888+1331A>C (n.-888+1331A>C) | |
| 17 | g.4933011T= | CA2244625396 | CHRNE,GP1BA | c.407T= (p.Leu136=) c.-888+1331A= (n.-888+1331A=) | |
| 17 | g.4933012G>A | CA497677332 | CHRNE,GP1BA | c.408G>A (p.Leu136=) c.-888+1330C>T (n.-888+1330C>T) | |
| 17 | g.4933012G>C | CA497677333 | CHRNE,GP1BA | c.408G>C (p.Leu136=) c.-888+1330C>G (n.-888+1330C>G) | |
| 17 | g.4933012G>T | CA497677334 | CHRNE,GP1BA | c.408G>T (p.Leu136=) c.-888+1330C>A (n.-888+1330C>A) | |
| 17 | g.4933013C>A | CA397316318 | CHRNE,GP1BA | c.409C>A (p.Arg137Ser) c.-888+1329G>T (n.-888+1329G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933013C= | CA2244625397 | CHRNE,GP1BA | c.409C= (p.Arg137=) c.-888+1329G= (n.-888+1329G=) | |
| 17 | g.4933013C>G | CA397316320 | CHRNE,GP1BA | c.409C>G (p.Arg137Gly) c.-888+1329G>C (n.-888+1329G>C) | |
| 17 | g.4933013C>T | CA397316321 | CHRNE,GP1BA | c.409C>T (p.Arg137Cys) c.-888+1329G>A (n.-888+1329G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933014G>A | CA8314767 | CHRNE,GP1BA | c.410G>A (p.Arg137His) c.-888+1328C>T (n.-888+1328C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933014G>C | CA397316324 | CHRNE,GP1BA | c.410G>C (p.Arg137Pro) c.-888+1328C>G (n.-888+1328C>G) | |
| 17 | g.4933014G= | CA2244625398 | CHRNE,GP1BA | c.410G= (p.Arg137=) c.-888+1328C= (n.-888+1328C=) | |
| 17 | g.4933014G>T | CA397316326 | CHRNE,GP1BA | c.410G>T (p.Arg137Leu) c.-888+1328C>A (n.-888+1328C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933015T>A | CA497677340 | CHRNE,GP1BA | c.411T>A (p.Arg137=) c.-888+1327A>T (n.-888+1327A>T) | |
| 17 | g.4933015T>C | CA497677339 | CHRNE,GP1BA | c.411T>C (p.Arg137=) c.-888+1327A>G (n.-888+1327A>G) | |
| 17 | g.4933015T>G | CA497677338 | CHRNE,GP1BA | c.411T>G (p.Arg137=) c.-888+1327A>C (n.-888+1327A>C) | |
| 17 | g.4933016G>A | CA397316330 | CHRNE,GP1BA | c.412G>A (p.Gly138Ser) c.-888+1326C>T (n.-888+1326C>T) | |
| 17 | g.4933016G>C | CA397316329 | CHRNE,GP1BA | c.412G>C (p.Gly138Arg) c.-888+1326C>G (n.-888+1326C>G) | |
| 17 | g.4933016G= | CA2244625399 | CHRNE,GP1BA | c.412G= (p.Gly138=) c.-888+1326C= (n.-888+1326C=) | |
| 17 | g.4933016G>T | CA287216070 | CHRNE,GP1BA | c.412G>T (p.Gly138Cys) c.-888+1326C>A (n.-888+1326C>A) | dbSNP |
| 17 | g.4933017G>A | CA397316331 | CHRNE,GP1BA | c.413G>A (p.Gly138Asp) c.-888+1325C>T (n.-888+1325C>T) | |
| 17 | g.4933017G>C | CA397316332 | CHRNE,GP1BA | c.413G>C (p.Gly138Ala) c.-888+1325C>G (n.-888+1325C>G) | |
| 17 | g.4933017G= | CA2244625400 | CHRNE,GP1BA | c.413G= (p.Gly138=) c.-888+1325C= (n.-888+1325C=) | |
| 17 | g.4933017G>T | CA397316334 | CHRNE,GP1BA | c.413G>T (p.Gly138Val) c.-888+1325C>A (n.-888+1325C>A) | ClinVar dbSNP |
| 17 | g.4933018T>A | CA497677342 | CHRNE,GP1BA | c.414T>A (p.Gly138=) c.-888+1324A>T (n.-888+1324A>T) | |
| 17 | g.4933018T>C | CA497677343 | CHRNE,GP1BA | c.414T>C (p.Gly138=) c.-888+1324A>G (n.-888+1324A>G) | |
| 17 | g.4933018T>G | CA497677344 | CHRNE,GP1BA | c.414T>G (p.Gly138=) c.-888+1324A>C (n.-888+1324A>C) | |
| 17 | g.4933019C>A | CA397316336 | CHRNE,GP1BA | c.415C>A (p.Leu139Ile) c.-888+1323G>T (n.-888+1323G>T) | |
| 17 | g.4933019C= | CA2244625401 | CHRNE,GP1BA | c.415C= (p.Leu139=) c.-888+1323G= (n.-888+1323G=) | |
| 17 | g.4933019C>G | CA397316338 | CHRNE,GP1BA | c.415C>G (p.Leu139Val) c.-888+1323G>C (n.-888+1323G>C) | |
| 17 | g.4933019C>T | CA8314768 | CHRNE,GP1BA | c.415C>T (p.Leu139Phe) c.-888+1323G>A (n.-888+1323G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933020T>A | CA397316341 | CHRNE,GP1BA | c.416T>A (p.Leu139His) c.-888+1322A>T (n.-888+1322A>T) | |
| 17 | g.4933020T>C | CA397316342 | CHRNE,GP1BA | c.416T>C (p.Leu139Pro) c.-888+1322A>G (n.-888+1322A>G) | dbSNP gnomAD v4 |
| 17 | g.4933020T>G | CA397316343 | CHRNE,GP1BA | c.416T>G (p.Leu139Arg) c.-888+1322A>C (n.-888+1322A>C) | |
| 17 | g.4933020T= | CA2244625402 | CHRNE,GP1BA | c.416T= (p.Leu139=) c.-888+1322A= (n.-888+1322A=) | |
| 17 | g.4933021T>A | CA497677347 | CHRNE,GP1BA | c.417T>A (p.Leu139=) c.-888+1321A>T (n.-888+1321A>T) | |
| 17 | g.4933021T>C | CA497677350 | CHRNE,GP1BA | c.417T>C (p.Leu139=) c.-888+1321A>G (n.-888+1321A>G) | |
| 17 | g.4933021T>G | CA497677349 | CHRNE,GP1BA | c.417T>G (p.Leu139=) c.-888+1321A>C (n.-888+1321A>C) | |
| 17 | g.4933022G>A | CA397316345 | CHRNE,GP1BA | c.418G>A (p.Gly140Ser) c.-888+1320C>T (n.-888+1320C>T) | |
| 17 | g.4933022G>C | CA397316348 | CHRNE,GP1BA | c.418G>C (p.Gly140Arg) c.-888+1320C>G (n.-888+1320C>G) | |
| 17 | g.4933022G>T | CA397316354 | CHRNE,GP1BA | c.418G>T (p.Gly140Cys) c.-888+1320C>A (n.-888+1320C>A) | |
| 17 | g.4933023G>A | CA397316358 | CHRNE,GP1BA | c.419G>A (p.Gly140Asp) c.-888+1319C>T (n.-888+1319C>T) | |
| 17 | g.4933023G>C | CA397316360 | CHRNE,GP1BA | c.419G>C (p.Gly140Ala) c.-888+1319C>G (n.-888+1319C>G) | |
| 17 | g.4933023G>T | CA397316356 | CHRNE,GP1BA | c.419G>T (p.Gly140Val) c.-888+1319C>A (n.-888+1319C>A) | |
| 17 | g.4933024C>A | CA8314770 | CHRNE,GP1BA | c.420C>A (p.Gly140=) c.-888+1318G>T (n.-888+1318G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933024C= | CA2244625403 | CHRNE,GP1BA | c.420C= (p.Gly140=) c.-888+1318G= (n.-888+1318G=) | |
| 17 | g.4933024C>G | CA497677352 | CHRNE,GP1BA | c.420C>G (p.Gly140=) c.-888+1318G>C (n.-888+1318G>C) | |
| 17 | g.4933024C>T | CA8314769 | CHRNE,GP1BA | c.420C>T (p.Gly140=) c.-888+1318G>A (n.-888+1318G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933025G>A | CA8314771 | CHRNE,GP1BA | c.421G>A (p.Glu141Lys) c.-888+1317C>T (n.-888+1317C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933025G>C | CA397316371 | CHRNE,GP1BA | c.421G>C (p.Glu141Gln) c.-888+1317C>G (n.-888+1317C>G) | |
| 17 | g.4933025G= | CA2244625404 | CHRNE,GP1BA | c.421G= (p.Glu141=) c.-888+1317C= (n.-888+1317C=) | |
| 17 | g.4933025G>T | CA397316375 | CHRNE,GP1BA | c.421G>T (p.Glu141Ter) c.-888+1317C>A (n.-888+1317C>A) | |
| 17 | g.4933026A>C | CA397316379 | CHRNE,GP1BA | c.422A>C (p.Glu141Ala) c.-888+1316T>G (n.-888+1316T>G) | |
| 17 | g.4933026A>G | CA397316382 | CHRNE,GP1BA | c.422A>G (p.Glu141Gly) c.-888+1316T>C (n.-888+1316T>C) | |
| 17 | g.4933026A>T | CA397316388 | CHRNE,GP1BA | c.422A>T (p.Glu141Val) c.-888+1316T>A (n.-888+1316T>A) | |
| 17 | g.4933027A>C | CA397316390 | CHRNE,GP1BA | c.423A>C (p.Glu141Asp) c.-888+1315T>G (n.-888+1315T>G) | |
| 17 | g.4933027A>G | CA497677354 | CHRNE,GP1BA | c.423A>G (p.Glu141=) c.-888+1315T>C (n.-888+1315T>C) | |
| 17 | g.4933027A>T | CA397316391 | CHRNE,GP1BA | c.423A>T (p.Glu141Asp) c.-888+1315T>A (n.-888+1315T>A) | |
| 17 | g.4933028C>A | CA8314772 | CHRNE,GP1BA | c.424C>A (p.Leu142Ile) c.-888+1314G>T (n.-888+1314G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933028C= | CA2244625405 | CHRNE,GP1BA | c.424C= (p.Leu142=) c.-888+1314G= (n.-888+1314G=) | |
| 17 | g.4933028C>G | CA397316397 | CHRNE,GP1BA | c.424C>G (p.Leu142Val) c.-888+1314G>C (n.-888+1314G>C) | gnomAD v4 |
| 17 | g.4933028C>T | CA397316400 | CHRNE,GP1BA | c.424C>T (p.Leu142Phe) c.-888+1314G>A (n.-888+1314G>A) | |
| 17 | g.4933029T>A | CA8314773 | CHRNE,GP1BA | c.425T>A (p.Leu142His) c.-888+1313A>T (n.-888+1313A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933029T>C | CA397316409 | CHRNE,GP1BA | c.425T>C (p.Leu142Pro) c.-888+1313A>G (n.-888+1313A>G) | |
| 17 | g.4933029T>G | CA397316404 | CHRNE,GP1BA | c.425T>G (p.Leu142Arg) c.-888+1313A>C (n.-888+1313A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933029T= | CA2244625406 | CHRNE,GP1BA | c.425T= (p.Leu142=) c.-888+1313A= (n.-888+1313A=) | |
| 17 | g.4933030C>A | CA497677356 | CHRNE,GP1BA | c.426C>A (p.Leu142=) c.-888+1312G>T (n.-888+1312G>T) | |
| 17 | g.4933030C>G | CA497677357 | CHRNE,GP1BA | c.426C>G (p.Leu142=) c.-888+1312G>C (n.-888+1312G>C) | |
| 17 | g.4933030C>T | CA497677358 | CHRNE,GP1BA | c.426C>T (p.Leu142=) c.-888+1312G>A (n.-888+1312G>A) | |
| 17 | g.4933031C>A | CA397316418 | CHRNE,GP1BA | c.427C>A (p.Gln143Lys) c.-888+1311G>T (n.-888+1311G>T) | |
| 17 | g.4933031C>G | CA397316421 | CHRNE,GP1BA | c.427C>G (p.Gln143Glu) c.-888+1311G>C (n.-888+1311G>C) | |
| 17 | g.4933031C>T | CA397316425 | CHRNE,GP1BA | c.427C>T (p.Gln143Ter) c.-888+1311G>A (n.-888+1311G>A) | |
| 17 | g.4933032A>C | CA397316428 | CHRNE,GP1BA | c.428A>C (p.Gln143Pro) c.-888+1310T>G (n.-888+1310T>G) | |
| 17 | g.4933032A>G | CA397316432 | CHRNE,GP1BA | c.428A>G (p.Gln143Arg) c.-888+1310T>C (n.-888+1310T>C) | |
| 17 | g.4933032A>T | CA397316436 | CHRNE,GP1BA | c.428A>T (p.Gln143Leu) c.-888+1310T>A (n.-888+1310T>A) | |
| 17 | g.4933033A>C | CA397316439 | CHRNE,GP1BA | c.429A>C (p.Gln143His) c.-888+1309T>G (n.-888+1309T>G) | |
| 17 | g.4933033A>G | CA497677361 | CHRNE,GP1BA | c.429A>G (p.Gln143=) c.-888+1309T>C (n.-888+1309T>C) | |
| 17 | g.4933033A>T | CA397316443 | CHRNE,GP1BA | c.429A>T (p.Gln143His) c.-888+1309T>A (n.-888+1309T>A) | |
| 17 | g.4933034G>A | CA397316451 | CHRNE,GP1BA | c.430G>A (p.Glu144Lys) c.-888+1308C>T (n.-888+1308C>T) | |
| 17 | g.4933034G>C | CA397316454 | CHRNE,GP1BA | c.430G>C (p.Glu144Gln) c.-888+1308C>G (n.-888+1308C>G) | |
| 17 | g.4933034G>T | CA397316459 | CHRNE,GP1BA | c.430G>T (p.Glu144Ter) c.-888+1308C>A (n.-888+1308C>A) | |
| 17 | g.4933035A>C | CA397316463 | CHRNE,GP1BA | c.431A>C (p.Glu144Ala) c.-888+1307T>G (n.-888+1307T>G) | |
| 17 | g.4933035A>G | CA397316479 | CHRNE,GP1BA | c.431A>G (p.Glu144Gly) c.-888+1307T>C (n.-888+1307T>C) | |
| 17 | g.4933035A>T | CA397316482 | CHRNE,GP1BA | c.431A>T (p.Glu144Val) c.-888+1307T>A (n.-888+1307T>A) | |
| 17 | g.4933036G>A | CA497677366 | CHRNE,GP1BA | c.432G>A (p.Glu144=) c.-888+1306C>T (n.-888+1306C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933036G>C | CA397316485 | CHRNE,GP1BA | c.432G>C (p.Glu144Asp) c.-888+1306C>G (n.-888+1306C>G) | |
| 17 | g.4933036G= | CA2244625407 | CHRNE,GP1BA | c.432G= (p.Glu144=) c.-888+1306C= (n.-888+1306C=) | |
| 17 | g.4933036G>T | CA397316488 | CHRNE,GP1BA | c.432G>T (p.Glu144Asp) c.-888+1306C>A (n.-888+1306C>A) | |
| 17 | g.4933037C>A | CA397316492 | CHRNE,GP1BA | c.433C>A (p.Leu145Ile) c.-888+1305G>T (n.-888+1305G>T) | |
| 17 | g.4933037C= | CA2244625408 | CHRNE,GP1BA | c.433C= (p.Leu145=) c.-888+1305G= (n.-888+1305G=) | |
| 17 | g.4933037C>G | CA397316494 | CHRNE,GP1BA | c.433C>G (p.Leu145Val) c.-888+1305G>C (n.-888+1305G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933037C>T | CA397316497 | CHRNE,GP1BA | c.433C>T (p.Leu145Phe) c.-888+1305G>A (n.-888+1305G>A) | |
| 17 | g.4933038T>A | CA397316512 | CHRNE,GP1BA | c.434T>A (p.Leu145His) c.-888+1304A>T (n.-888+1304A>T) | |
| 17 | g.4933038T>C | CA8314774 | CHRNE,GP1BA | c.434T>C (p.Leu145Pro) c.-888+1304A>G (n.-888+1304A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933038T>G | CA397316519 | CHRNE,GP1BA | c.434T>G (p.Leu145Arg) c.-888+1304A>C (n.-888+1304A>C) | |
| 17 | g.4933038T= | CA2244625409 | CHRNE,GP1BA | c.434T= (p.Leu145=) c.-888+1304A= (n.-888+1304A=) | |
| 17 | g.4933039C>A | CA497677368 | CHRNE,GP1BA | c.435C>A (p.Leu145=) c.-888+1303G>T (n.-888+1303G>T) | |
| 17 | g.4933039C>G | CA497677369 | CHRNE,GP1BA | c.435C>G (p.Leu145=) c.-888+1303G>C (n.-888+1303G>C) | COSMIC |
| 17 | g.4933039C>T | CA497677370 | CHRNE,GP1BA | c.435C>T (p.Leu145=) c.-888+1303G>A (n.-888+1303G>A) | |
| 17 | g.4933040T>A | CA397316523 | CHRNE,GP1BA | c.436T>A (p.Tyr146Asn) c.-888+1302A>T (n.-888+1302A>T) | |
| 17 | g.4933040T>C | CA8314775 | CHRNE,GP1BA | c.436T>C (p.Tyr146His) c.-888+1302A>G (n.-888+1302A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933040T>G | CA397316528 | CHRNE,GP1BA | c.436T>G (p.Tyr146Asp) c.-888+1302A>C (n.-888+1302A>C) | |
| 17 | g.4933040T= | CA2244625410 | CHRNE,GP1BA | c.436T= (p.Tyr146=) c.-888+1302A= (n.-888+1302A=) | |
| 17 | g.4933041A= | CA2244625411 | CHRNE,GP1BA | c.437A= (p.Tyr146=) c.-888+1301T= (n.-888+1301T=) | |
| 17 | g.4933041A>C | CA397316531 | CHRNE,GP1BA | c.437A>C (p.Tyr146Ser) c.-888+1301T>G (n.-888+1301T>G) | gnomAD v4 |
| 17 | g.4933041A>G | CA397316535 | CHRNE,GP1BA | c.437A>G (p.Tyr146Cys) c.-888+1301T>C (n.-888+1301T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933041A>T | CA397316538 | CHRNE,GP1BA | c.437A>T (p.Tyr146Phe) c.-888+1301T>A (n.-888+1301T>A) | |
| 17 | g.4933042C>A | CA397316541 | CHRNE,GP1BA | c.438C>A (p.Tyr146Ter) c.-888+1300G>T (n.-888+1300G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933042C= | CA2244625412 | CHRNE,GP1BA | c.438C= (p.Tyr146=) c.-888+1300G= (n.-888+1300G=) | |
| 17 | g.4933042C>G | CA397316545 | CHRNE,GP1BA | c.438C>G (p.Tyr146Ter) c.-888+1300G>C (n.-888+1300G>C) | |
| 17 | g.4933042C>T | CA287216132 | CHRNE,GP1BA | c.438C>T (p.Tyr146=) c.-888+1300G>A (n.-888+1300G>A) | dbSNP |
| 17 | g.4933043C>A | CA397316549 | CHRNE,GP1BA | c.439C>A (p.Leu147Met) c.-888+1299G>T (n.-888+1299G>T) | |
| 17 | g.4933043C>G | CA397316550 | CHRNE,GP1BA | c.439C>G (p.Leu147Val) c.-888+1299G>C (n.-888+1299G>C) | |
| 17 | g.4933043C>T | CA497677374 | CHRNE,GP1BA | c.439C>T (p.Leu147=) c.-888+1299G>A (n.-888+1299G>A) | |
| 17 | g.4933044T>A | CA397316552 | CHRNE,GP1BA | c.440T>A (p.Leu147Gln) c.-888+1298A>T (n.-888+1298A>T) | |
| 17 | g.4933044T>C | CA397316554 | CHRNE,GP1BA | c.440T>C (p.Leu147Pro) c.-888+1298A>G (n.-888+1298A>G) | |
| 17 | g.4933044T>G | CA397316557 | CHRNE,GP1BA | c.440T>G (p.Leu147Arg) c.-888+1298A>C (n.-888+1298A>C) | |
| 17 | g.4933045G>A | CA8314776 | CHRNE,GP1BA | c.441G>A (p.Leu147=) c.-888+1297C>T (n.-888+1297C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933045G>C | CA497677376 | CHRNE,GP1BA | c.441G>C (p.Leu147=) c.-888+1297C>G (n.-888+1297C>G) | |
| 17 | g.4933045G= | CA2244625413 | CHRNE,GP1BA | c.441G= (p.Leu147=) c.-888+1297C= (n.-888+1297C=) | |
| 17 | g.4933045G>T | CA497677377 | CHRNE,GP1BA | c.441G>T (p.Leu147=) c.-888+1297C>A (n.-888+1297C>A) | |
| 17 | g.4933046A>C | CA397316558 | CHRNE,GP1BA | c.442A>C (p.Lys148Gln) c.-888+1296T>G (n.-888+1296T>G) | |
| 17 | g.4933046A>G | CA397316560 | CHRNE,GP1BA | c.442A>G (p.Lys148Glu) c.-888+1296T>C (n.-888+1296T>C) | |
| 17 | g.4933046A>T | CA397316559 | CHRNE,GP1BA | c.442A>T (p.Lys148Ter) c.-888+1296T>A (n.-888+1296T>A) | |
| 17 | g.4933047A>C | CA397316561 | CHRNE,GP1BA | c.443A>C (p.Lys148Thr) c.-888+1295T>G (n.-888+1295T>G) | |
| 17 | g.4933047A>G | CA397316562 | CHRNE,GP1BA | c.443A>G (p.Lys148Arg) c.-888+1295T>C (n.-888+1295T>C) | |
| 17 | g.4933047A>T | CA397316563 | CHRNE,GP1BA | c.443A>T (p.Lys148Ile) c.-888+1295T>A (n.-888+1295T>A) | |
| 17 | g.4933048A>C | CA397316565 | CHRNE,GP1BA | c.444A>C (p.Lys148Asn) c.-888+1294T>G (n.-888+1294T>G) | |
| 17 | g.4933048A>G | CA497677380 | CHRNE,GP1BA | c.444A>G (p.Lys148=) c.-888+1294T>C (n.-888+1294T>C) | |
| 17 | g.4933048A>T | CA397316567 | CHRNE,GP1BA | c.444A>T (p.Lys148Asn) c.-888+1294T>A (n.-888+1294T>A) | |
| 17 | g.4933049G>A | CA397316570 | CHRNE,GP1BA | c.445G>A (p.Gly149Ser) c.-888+1293C>T (n.-888+1293C>T) | |
| 17 | g.4933049G>C | CA397316572 | CHRNE,GP1BA | c.445G>C (p.Gly149Arg) c.-888+1293C>G (n.-888+1293C>G) | |
| 17 | g.4933049G>T | CA397316568 | CHRNE,GP1BA | c.445G>T (p.Gly149Cys) c.-888+1293C>A (n.-888+1293C>A) | |
| 17 | g.4933050G>A | CA397316574 | CHRNE,GP1BA | c.446G>A (p.Gly149Asp) c.-888+1292C>T (n.-888+1292C>T) | |
| 17 | g.4933050G>C | CA397316579 | CHRNE,GP1BA | c.446G>C (p.Gly149Ala) c.-888+1292C>G (n.-888+1292C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933050G= | CA2244625414 | CHRNE,GP1BA | c.446G= (p.Gly149=) c.-888+1292C= (n.-888+1292C=) | |
| 17 | g.4933050G>T | CA397316577 | CHRNE,GP1BA | c.446G>T (p.Gly149Val) c.-888+1292C>A (n.-888+1292C>A) | |
| 17 | g.4933051C>A | CA497677384 | CHRNE,GP1BA | c.447C>A (p.Gly149=) c.-888+1291G>T (n.-888+1291G>T) | |
| 17 | g.4933051C>G | CA497677385 | CHRNE,GP1BA | c.447C>G (p.Gly149=) c.-888+1291G>C (n.-888+1291G>C) | |
| 17 | g.4933051C>T | CA497677386 | CHRNE,GP1BA | c.447C>T (p.Gly149=) c.-888+1291G>A (n.-888+1291G>A) | |
| 17 | g.4933052A>C | CA397316581 | CHRNE,GP1BA | c.448A>C (p.Asn150His) c.-888+1290T>G (n.-888+1290T>G) | |
| 17 | g.4933052A>G | CA397316583 | CHRNE,GP1BA | c.448A>G (p.Asn150Asp) c.-888+1290T>C (n.-888+1290T>C) | |
| 17 | g.4933052A>T | CA397316585 | CHRNE,GP1BA | c.448A>T (p.Asn150Tyr) c.-888+1290T>A (n.-888+1290T>A) | |
| 17 | g.4933053A= | CA2244625415 | CHRNE,GP1BA | c.449A= (p.Asn150=) c.-888+1289T= (n.-888+1289T=) | |
| 17 | g.4933053A>C | CA397316589 | CHRNE,GP1BA | c.449A>C (p.Asn150Thr) c.-888+1289T>G (n.-888+1289T>G) | |
| 17 | g.4933053A>G | CA397316592 | CHRNE,GP1BA | c.449A>G (p.Asn150Ser) c.-888+1289T>C (n.-888+1289T>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933053A>T | CA397316594 | CHRNE,GP1BA | c.449A>T (p.Asn150Ile) c.-888+1289T>A (n.-888+1289T>A) | |
| 17 | g.4933054T>A | CA397316601 | CHRNE,GP1BA | c.450T>A (p.Asn150Lys) c.-888+1288A>T (n.-888+1288A>T) | |
| 17 | g.4933054T>C | CA497677390 | CHRNE,GP1BA | c.450T>C (p.Asn150=) c.-888+1288A>G (n.-888+1288A>G) | |
| 17 | g.4933054T>G | CA397316598 | CHRNE,GP1BA | c.450T>G (p.Asn150Lys) c.-888+1288A>C (n.-888+1288A>C) | |
| 17 | g.4933055G>A | CA397316603 | CHRNE,GP1BA | c.451G>A (p.Glu151Lys) c.-888+1287C>T (n.-888+1287C>T) | |
| 17 | g.4933055G>C | CA397316607 | CHRNE,GP1BA | c.451G>C (p.Glu151Gln) c.-888+1287C>G (n.-888+1287C>G) | |
| 17 | g.4933055G>T | CA397316612 | CHRNE,GP1BA | c.451G>T (p.Glu151Ter) c.-888+1287C>A (n.-888+1287C>A) | |
| 17 | g.4933056A>C | CA397316617 | CHRNE,GP1BA | c.452A>C (p.Glu151Ala) c.-888+1286T>G (n.-888+1286T>G) | |
| 17 | g.4933056A>G | CA397316618 | CHRNE,GP1BA | c.452A>G (p.Glu151Gly) c.-888+1286T>C (n.-888+1286T>C) | |
| 17 | g.4933056A>T | CA397316619 | CHRNE,GP1BA | c.452A>T (p.Glu151Val) c.-888+1286T>A (n.-888+1286T>A) | |
| 17 | g.4933057G>A | CA8314777 | CHRNE,GP1BA | c.453G>A (p.Glu151=) c.-888+1285C>T (n.-888+1285C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933057G>C | CA397316623 | CHRNE,GP1BA | c.453G>C (p.Glu151Asp) c.-888+1285C>G (n.-888+1285C>G) | |
| 17 | g.4933057G= | CA2244625416 | CHRNE,GP1BA | c.453G= (p.Glu151=) c.-888+1285C= (n.-888+1285C=) | |
| 17 | g.4933057G>T | CA397316625 | CHRNE,GP1BA | c.453G>T (p.Glu151Asp) c.-888+1285C>A (n.-888+1285C>A) | |
| 17 | g.4933058C>A | CA397316632 | CHRNE,GP1BA | c.454C>A (p.Leu152Met) c.-888+1284G>T (n.-888+1284G>T) | |
| 17 | g.4933058C>G | CA397316635 | CHRNE,GP1BA | c.454C>G (p.Leu152Val) c.-888+1284G>C (n.-888+1284G>C) | |
| 17 | g.4933058C>T | CA497677393 | CHRNE,GP1BA | c.454C>T (p.Leu152=) c.-888+1284G>A (n.-888+1284G>A) | gnomAD v4 |
| 17 | g.4933059T>A | CA397316636 | CHRNE,GP1BA | c.455T>A (p.Leu152Gln) c.-888+1283A>T (n.-888+1283A>T) | |
| 17 | g.4933059T>C | CA397316639 | CHRNE,GP1BA | c.455T>C (p.Leu152Pro) c.-888+1283A>G (n.-888+1283A>G) | |
| 17 | g.4933059T>G | CA397316643 | CHRNE,GP1BA | c.455T>G (p.Leu152Arg) c.-888+1283A>C (n.-888+1283A>C) | |
| 17 | g.4933060G>A | CA497677396 | CHRNE,GP1BA | c.456G>A (p.Leu152=) c.-888+1282C>T (n.-888+1282C>T) | gnomAD v4 |
| 17 | g.4933060G>C | CA497677398 | CHRNE,GP1BA | c.456G>C (p.Leu152=) c.-888+1282C>G (n.-888+1282C>G) | |
| 17 | g.4933060G>T | CA497677399 | CHRNE,GP1BA | c.456G>T (p.Leu152=) c.-888+1282C>A (n.-888+1282C>A) | |
| 17 | g.4933061A>C | CA397316645 | CHRNE,GP1BA | c.457A>C (p.Lys153Gln) c.-888+1281T>G (n.-888+1281T>G) | |
| 17 | g.4933061A>G | CA397316654 | CHRNE,GP1BA | c.457A>G (p.Lys153Glu) c.-888+1281T>C (n.-888+1281T>C) | |
| 17 | g.4933061A>T | CA397316657 | CHRNE,GP1BA | c.457A>T (p.Lys153Ter) c.-888+1281T>A (n.-888+1281T>A) | |
| 17 | g.4933062A>C | CA397316662 | CHRNE,GP1BA | c.458A>C (p.Lys153Thr) c.-888+1280T>G (n.-888+1280T>G) | |
| 17 | g.4933062A>G | CA397316664 | CHRNE,GP1BA | c.458A>G (p.Lys153Arg) c.-888+1280T>C (n.-888+1280T>C) | |
| 17 | g.4933062A>T | CA397316677 | CHRNE,GP1BA | c.458A>T (p.Lys153Met) c.-888+1280T>A (n.-888+1280T>A) | |
| 17 | g.4933063G>A | CA497677400 | CHRNE,GP1BA | c.459G>A (p.Lys153=) c.-888+1279C>T (n.-888+1279C>T) | |
| 17 | g.4933063G>C | CA397316679 | CHRNE,GP1BA | c.459G>C (p.Lys153Asn) c.-888+1279C>G (n.-888+1279C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933063G= | CA2244625417 | CHRNE,GP1BA | c.459G= (p.Lys153=) c.-888+1279C= (n.-888+1279C=) | |
| 17 | g.4933063G>T | CA397316681 | CHRNE,GP1BA | c.459G>T (p.Lys153Asn) c.-888+1279C>A (n.-888+1279C>A) | |
| 17 | g.4933064A>C | CA397316690 | CHRNE,GP1BA | c.460A>C (p.Thr154Pro) c.-888+1278T>G (n.-888+1278T>G) | dbSNP |
| 17 | g.4933064A>G | CA397316685 | CHRNE,GP1BA | c.460A>G (p.Thr154Ala) c.-888+1278T>C (n.-888+1278T>C) | |
| 17 | g.4933064A>T | CA397316687 | CHRNE,GP1BA | c.460A>T (p.Thr154Ser) c.-888+1278T>A (n.-888+1278T>A) | |
| 17 | g.4933065C>A | CA397316694 | CHRNE,GP1BA | c.461C>A (p.Thr154Asn) c.-888+1277G>T (n.-888+1277G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933065C= | CA2244625418 | CHRNE,GP1BA | c.461C= (p.Thr154=) c.-888+1277G= (n.-888+1277G=) | |
| 17 | g.4933065C>G | CA397316704 | CHRNE,GP1BA | c.461C>G (p.Thr154Ser) c.-888+1277G>C (n.-888+1277G>C) | |
| 17 | g.4933065C>T | CA397316707 | CHRNE,GP1BA | c.461C>T (p.Thr154Ile) c.-888+1277G>A (n.-888+1277G>A) | |
| 17 | g.4933066C>A | CA497677404 | CHRNE,GP1BA | c.462C>A (p.Thr154=) c.-888+1276G>T (n.-888+1276G>T) | |
| 17 | g.4933066C>G | CA497677405 | CHRNE,GP1BA | c.462C>G (p.Thr154=) c.-888+1276G>C (n.-888+1276G>C) | |
| 17 | g.4933066C>T | CA497677406 | CHRNE,GP1BA | c.462C>T (p.Thr154=) c.-888+1276G>A (n.-888+1276G>A) | COSMIC |
| 17 | g.4933067C>A | CA397316710 | CHRNE,GP1BA | c.463C>A (p.Leu155Met) c.-888+1275G>T (n.-888+1275G>T) | gnomAD v4 COSMIC |
| 17 | g.4933067C>G | CA397316714 | CHRNE,GP1BA | c.463C>G (p.Leu155Val) c.-888+1275G>C (n.-888+1275G>C) | ClinVar dbSNP |
| 17 | g.4933067C>T | CA497677407 | CHRNE,GP1BA | c.463C>T (p.Leu155=) c.-888+1275G>A (n.-888+1275G>A) | |
| 17 | g.4933068T>A | CA8314778 | CHRNE,GP1BA | c.464T>A (p.Leu155Gln) c.-888+1274A>T (n.-888+1274A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933068T>C | CA397316720 | CHRNE,GP1BA | c.464T>C (p.Leu155Pro) c.-888+1274A>G (n.-888+1274A>G) | |
| 17 | g.4933068T>G | CA397316724 | CHRNE,GP1BA | c.464T>G (p.Leu155Arg) c.-888+1274A>C (n.-888+1274A>C) | |
| 17 | g.4933068T= | CA2244625419 | CHRNE,GP1BA | c.464T= (p.Leu155=) c.-888+1274A= (n.-888+1274A=) | |
| 17 | g.4933069G>A | CA497677411 | CHRNE,GP1BA | c.465G>A (p.Leu155=) c.-888+1273C>T (n.-888+1273C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933069G>C | CA497677409 | CHRNE,GP1BA | c.465G>C (p.Leu155=) c.-888+1273C>G (n.-888+1273C>G) | |
| 17 | g.4933069G= | CA2244625420 | CHRNE,GP1BA | c.465G= (p.Leu155=) c.-888+1273C= (n.-888+1273C=) | |
| 17 | g.4933069G>T | CA497677408 | CHRNE,GP1BA | c.465G>T (p.Leu155=) c.-888+1273C>A (n.-888+1273C>A) | |
| 17 | g.4933070C>A | CA397316728 | CHRNE,GP1BA | c.466C>A (p.Pro156Thr) c.-888+1272G>T (n.-888+1272G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933070C= | CA2244625421 | CHRNE,GP1BA | c.466C= (p.Pro156=) c.-888+1272G= (n.-888+1272G=) | |
| 17 | g.4933070C>G | CA397316731 | CHRNE,GP1BA | c.466C>G (p.Pro156Ala) c.-888+1272G>C (n.-888+1272G>C) | |
| 17 | g.4933070C>T | CA397316735 | CHRNE,GP1BA | c.466C>T (p.Pro156Ser) c.-888+1272G>A (n.-888+1272G>A) | |
| 17 | g.4933074dup | CA915949478 | CHRNE,GP1BA | c.470dup (p.Gly158ArgfsTer16) c.-888+1272dup (n.-888+1272dup) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933074del | CA2635578734 | CHRNE,GP1BA | c.470del (p.Pro157GlnfsTer4) c.-888+1272del (n.-888+1272del) | gnomAD v4 |
| 17 | g.4933071C>A | CA397316739 | CHRNE,GP1BA | c.467C>A (p.Pro156His) c.-888+1271G>T (n.-888+1271G>T) | |
| 17 | g.4933071C>G | CA397316743 | CHRNE,GP1BA | c.467C>G (p.Pro156Arg) c.-888+1271G>C (n.-888+1271G>C) | |
| 17 | g.4933071C>T | CA397316752 | CHRNE,GP1BA | c.467C>T (p.Pro156Leu) c.-888+1271G>A (n.-888+1271G>A) | |
| 17 | g.4933072C>A | CA497677413 | CHRNE,GP1BA | c.468C>A (p.Pro156=) c.-888+1270G>T (n.-888+1270G>T) | |
| 17 | g.4933072C= | CA2244625422 | CHRNE,GP1BA | c.468C= (p.Pro156=) c.-888+1270G= (n.-888+1270G=) | |
| 17 | g.4933072C>G | CA8314779 | CHRNE,GP1BA | c.468C>G (p.Pro156=) c.-888+1270G>C (n.-888+1270G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933072C>T | CA497677416 | CHRNE,GP1BA | c.468C>T (p.Pro156=) c.-888+1270G>A (n.-888+1270G>A) | |
| 17 | g.4933073C>A | CA397316760 | CHRNE,GP1BA | c.469C>A (p.Pro157Thr) c.-888+1269G>T (n.-888+1269G>T) | |
| 17 | g.4933073C= | CA2244625423 | CHRNE,GP1BA | c.469C= (p.Pro157=) c.-888+1269G= (n.-888+1269G=) | |
| 17 | g.4933073C>G | CA397316763 | CHRNE,GP1BA | c.469C>G (p.Pro157Ala) c.-888+1269G>C (n.-888+1269G>C) | |
| 17 | g.4933073C>T | CA8314780 | CHRNE,GP1BA | c.469C>T (p.Pro157Ser) c.-888+1269G>A (n.-888+1269G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933074C>A | CA397316765 | CHRNE,GP1BA | c.470C>A (p.Pro157Gln) c.-888+1268G>T (n.-888+1268G>T) | |
| 17 | g.4933074C>G | CA397316767 | CHRNE,GP1BA | c.470C>G (p.Pro157Arg) c.-888+1268G>C (n.-888+1268G>C) | |
| 17 | g.4933074C>T | CA397316770 | CHRNE,GP1BA | c.470C>T (p.Pro157Leu) c.-888+1268G>A (n.-888+1268G>A) | gnomAD v4 |
| 17 | g.4933075A= | CA2244625424 | CHRNE,GP1BA | c.471A= (p.Pro157=) c.-888+1267T= (n.-888+1267T=) | |
| 17 | g.4933075A>C | CA497677418 | CHRNE,GP1BA | c.471A>C (p.Pro157=) c.-888+1267T>G (n.-888+1267T>G) | |
| 17 | g.4933075A>G | CA497677420 | CHRNE,GP1BA | c.471A>G (p.Pro157=) c.-888+1267T>C (n.-888+1267T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933075A>T | CA497677422 | CHRNE,GP1BA | c.471A>T (p.Pro157=) c.-888+1267T>A (n.-888+1267T>A) | |
| 17 | g.4933076G>A | CA397316774 | CHRNE,GP1BA | c.472G>A (p.Gly158Arg) c.-888+1266C>T (n.-888+1266C>T) | |
| 17 | g.4933076G>C | CA397316780 | CHRNE,GP1BA | c.472G>C (p.Gly158Arg) c.-888+1266C>G (n.-888+1266C>G) | gnomAD v4 |
| 17 | g.4933076G>T | CA397316781 | CHRNE,GP1BA | c.472G>T (p.Gly158Trp) c.-888+1266C>A (n.-888+1266C>A) | |
| 17 | g.4933077G>A | CA397316784 | CHRNE,GP1BA | c.473G>A (p.Gly158Glu) c.-888+1265C>T (n.-888+1265C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933077G>C | CA397316788 | CHRNE,GP1BA | c.473G>C (p.Gly158Ala) c.-888+1265C>G (n.-888+1265C>G) | |
| 17 | g.4933077G= | CA2244625425 | CHRNE,GP1BA | c.473G= (p.Gly158=) c.-888+1265C= (n.-888+1265C=) | |
| 17 | g.4933077G>T | CA397316791 | CHRNE,GP1BA | c.473G>T (p.Gly158Val) c.-888+1265C>A (n.-888+1265C>A) | |
| 17 | g.4933078G>A | CA497677423 | CHRNE,GP1BA | c.474G>A (p.Gly158=) c.-888+1264C>T (n.-888+1264C>T) | |
| 17 | g.4933078G>C | CA497677426 | CHRNE,GP1BA | c.474G>C (p.Gly158=) c.-888+1264C>G (n.-888+1264C>G) | |
| 17 | g.4933078G= | CA2244625426 | CHRNE,GP1BA | c.474G= (p.Gly158=) c.-888+1264C= (n.-888+1264C=) | |
| 17 | g.4933078G>T | CA8314781 | CHRNE,GP1BA | c.474G>T (p.Gly158=) c.-888+1264C>A (n.-888+1264C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933079C>A | CA397316797 | CHRNE,GP1BA | c.475C>A (p.Leu159Ile) c.-888+1263G>T (n.-888+1263G>T) | |
| 17 | g.4933079C>G | CA397316804 | CHRNE,GP1BA | c.475C>G (p.Leu159Val) c.-888+1263G>C (n.-888+1263G>C) | |
| 17 | g.4933079C>T | CA397316800 | CHRNE,GP1BA | c.475C>T (p.Leu159Phe) c.-888+1263G>A (n.-888+1263G>A) | |
| 17 | g.4933080T>A | CA397316806 | CHRNE,GP1BA | c.476T>A (p.Leu159His) c.-888+1262A>T (n.-888+1262A>T) | |
| 17 | g.4933080T>C | CA397316812 | CHRNE,GP1BA | c.476T>C (p.Leu159Pro) c.-888+1262A>G (n.-888+1262A>G) | |
| 17 | g.4933080T>G | CA397316809 | CHRNE,GP1BA | c.476T>G (p.Leu159Arg) c.-888+1262A>C (n.-888+1262A>C) | |
| 17 | g.4933081C>A | CA497677428 | CHRNE,GP1BA | c.477C>A (p.Leu159=) c.-888+1261G>T (n.-888+1261G>T) | |
| 17 | g.4933081C= | CA2244625427 | CHRNE,GP1BA | c.477C= (p.Leu159=) c.-888+1261G= (n.-888+1261G=) | |
| 17 | g.4933081C>G | CA497677430 | CHRNE,GP1BA | c.477C>G (p.Leu159=) c.-888+1261G>C (n.-888+1261G>C) | |
| 17 | g.4933081C>T | CA497677432 | CHRNE,GP1BA | c.477C>T (p.Leu159=) c.-888+1261G>A (n.-888+1261G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.4933082C>A | CA397316814 | CHRNE,GP1BA | c.478C>A (p.Leu160Met) c.-888+1260G>T (n.-888+1260G>T) | |
| 17 | g.4933082C>G | CA397316815 | CHRNE,GP1BA | c.478C>G (p.Leu160Val) c.-888+1260G>C (n.-888+1260G>C) | |
| 17 | g.4933082C>T | CA497677435 | CHRNE,GP1BA | c.478C>T (p.Leu160=) c.-888+1260G>A (n.-888+1260G>A) | |
| 17 | g.4933083T>A | CA397316818 | CHRNE,GP1BA | c.479T>A (p.Leu160Gln) c.-888+1259A>T (n.-888+1259A>T) | |
| 17 | g.4933083T>C | CA397316819 | CHRNE,GP1BA | c.479T>C (p.Leu160Pro) c.-888+1259A>G (n.-888+1259A>G) | |
| 17 | g.4933083T>G | CA397316820 | CHRNE,GP1BA | c.479T>G (p.Leu160Arg) c.-888+1259A>C (n.-888+1259A>C) | |
| 17 | g.4933084G>A | CA497677439 | CHRNE,GP1BA | c.480G>A (p.Leu160=) c.-888+1258C>T (n.-888+1258C>T) | |
| 17 | g.4933084G>C | CA497677437 | CHRNE,GP1BA | c.480G>C (p.Leu160=) c.-888+1258C>G (n.-888+1258C>G) | |
| 17 | g.4933084G>T | CA497677436 | CHRNE,GP1BA | c.480G>T (p.Leu160=) c.-888+1258C>A (n.-888+1258C>A) | |
| 17 | g.4933085A>C | CA397316821 | CHRNE,GP1BA | c.481A>C (p.Thr161Pro) c.-888+1257T>G (n.-888+1257T>G) | |
| 17 | g.4933085A>G | CA397316823 | CHRNE,GP1BA | c.481A>G (p.Thr161Ala) c.-888+1257T>C (n.-888+1257T>C) | |
| 17 | g.4933085A>T | CA397316825 | CHRNE,GP1BA | c.481A>T (p.Thr161Ser) c.-888+1257T>A (n.-888+1257T>A) | |
| 17 | g.4933086C>A | CA397316828 | CHRNE,GP1BA | c.482C>A (p.Thr161Lys) c.-888+1256G>T (n.-888+1256G>T) | |
| 17 | g.4933086C= | CA2244625428 | CHRNE,GP1BA | c.482C= (p.Thr161=) c.-888+1256G= (n.-888+1256G=) | |
| 17 | g.4933086C>G | CA397316831 | CHRNE,GP1BA | c.482C>G (p.Thr161Arg) c.-888+1256G>C (n.-888+1256G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933086C>T | CA8314782 | CHRNE,GP1BA | c.482C>T (p.Thr161Met) c.-888+1256G>A (n.-888+1256G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933087G>A | CA8314783 | CHRNE,GP1BA | c.483G>A (p.Thr161=) c.-888+1255C>T (n.-888+1255C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933087G>C | CA497677445 | CHRNE,GP1BA | c.483G>C (p.Thr161=) c.-888+1255C>G (n.-888+1255C>G) | |
| 17 | g.4933087G= | CA2244625429 | CHRNE,GP1BA | c.483G= (p.Thr161=) c.-888+1255C= (n.-888+1255C=) | |
| 17 | g.4933087G>T | CA497677444 | CHRNE,GP1BA | c.483G>T (p.Thr161=) c.-888+1255C>A (n.-888+1255C>A) | |
| 17 | g.4933088C>A | CA397316841 | CHRNE,GP1BA | c.484C>A (p.Pro162Thr) c.-888+1254G>T (n.-888+1254G>T) | |
| 17 | g.4933088C>G | CA397316847 | CHRNE,GP1BA | c.484C>G (p.Pro162Ala) c.-888+1254G>C (n.-888+1254G>C) | |
| 17 | g.4933088C>T | CA397316844 | CHRNE,GP1BA | c.484C>T (p.Pro162Ser) c.-888+1254G>A (n.-888+1254G>A) | |
| 17 | g.4933089C>A | CA397316851 | CHRNE,GP1BA | c.485C>A (p.Pro162His) c.-888+1253G>T (n.-888+1253G>T) | |
| 17 | g.4933089C>G | CA397316854 | CHRNE,GP1BA | c.485C>G (p.Pro162Arg) c.-888+1253G>C (n.-888+1253G>C) | |
| 17 | g.4933089C>T | CA397316858 | CHRNE,GP1BA | c.485C>T (p.Pro162Leu) c.-888+1253G>A (n.-888+1253G>A) | gnomAD v4 |
| 17 | g.4933090C>A | CA497677452 | CHRNE,GP1BA | c.486C>A (p.Pro162=) c.-888+1252G>T (n.-888+1252G>T) | |
| 17 | g.4933090C= | CA2244625430 | CHRNE,GP1BA | c.486C= (p.Pro162=) c.-888+1252G= (n.-888+1252G=) | |
| 17 | g.4933090C>G | CA497677455 | CHRNE,GP1BA | c.486C>G (p.Pro162=) c.-888+1252G>C (n.-888+1252G>C) | |
| 17 | g.4933090C>T | CA497677453 | CHRNE,GP1BA | c.486C>T (p.Pro162=) c.-888+1252G>A (n.-888+1252G>A) | dbSNP |
| 17 | g.4933091A= | CA2244625431 | CHRNE,GP1BA | c.487A= (p.Thr163=) c.-888+1251T= (n.-888+1251T=) | |
| 17 | g.4933091A>C | CA397316862 | CHRNE,GP1BA | c.487A>C (p.Thr163Pro) c.-888+1251T>G (n.-888+1251T>G) | |
| 17 | g.4933091A>G | CA8314784 | CHRNE,GP1BA | c.487A>G (p.Thr163Ala) c.-888+1251T>C (n.-888+1251T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933091A>T | CA397316864 | CHRNE,GP1BA | c.487A>T (p.Thr163Ser) c.-888+1251T>A (n.-888+1251T>A) | |
| 17 | g.4933092C>A | CA397316868 | CHRNE,GP1BA | c.488C>A (p.Thr163Lys) c.-888+1250G>T (n.-888+1250G>T) | |
| 17 | g.4933092C>G | CA397316870 | CHRNE,GP1BA | c.488C>G (p.Thr163Arg) c.-888+1250G>C (n.-888+1250G>C) | |
| 17 | g.4933092C>T | CA397316872 | CHRNE,GP1BA | c.488C>T (p.Thr163Ile) c.-888+1250G>A (n.-888+1250G>A) |