| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4933142C>A | CA397317178 | CHRNE,GP1BA | c.538C>A (p.Pro180Thr) c.-888+1200G>T (n.-888+1200G>T) | |
| 17 | g.4933142C= | CA2244625449 | CHRNE,GP1BA | c.538C= (p.Pro180=) c.-888+1200G= (n.-888+1200G=) | |
| 17 | g.4933142C>G | CA8314790 | CHRNE,GP1BA | c.538C>G (p.Pro180Ala) c.-888+1200G>C (n.-888+1200G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933142C>T | CA397317180 | CHRNE,GP1BA | c.538C>T (p.Pro180Ser) c.-888+1200G>A (n.-888+1200G>A) | |
| 17 | g.4933143C>A | CA397317184 | CHRNE,GP1BA | c.539C>A (p.Pro180His) c.-888+1199G>T (n.-888+1199G>T) | |
| 17 | g.4933143C= | CA2244625450 | CHRNE,GP1BA | c.539C= (p.Pro180=) c.-888+1199G= (n.-888+1199G=) | |
| 17 | g.4933143C>G | CA397317188 | CHRNE,GP1BA | c.539C>G (p.Pro180Arg) c.-888+1199G>C (n.-888+1199G>C) | |
| 17 | g.4933143C>T | CA397317190 | CHRNE,GP1BA | c.539C>T (p.Pro180Leu) c.-888+1199G>A (n.-888+1199G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933144C>A | CA497677582 | CHRNE,GP1BA | c.540C>A (p.Pro180=) c.-888+1198G>T (n.-888+1198G>T) | |
| 17 | g.4933144C= | CA2244625451 | CHRNE,GP1BA | c.540C= (p.Pro180=) c.-888+1198G= (n.-888+1198G=) | |
| 17 | g.4933144C>G | CA497677584 | CHRNE,GP1BA | c.540C>G (p.Pro180=) c.-888+1198G>C (n.-888+1198G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933144C>T | CA497677587 | CHRNE,GP1BA | c.540C>T (p.Pro180=) c.-888+1198G>A (n.-888+1198G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933145G>A | CA8314791 | CHRNE,GP1BA | c.541G>A (p.Ala181Thr) c.-888+1197C>T (n.-888+1197C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933145G>C | CA397317196 | CHRNE,GP1BA | c.541G>C (p.Ala181Pro) c.-888+1197C>G (n.-888+1197C>G) | gnomAD v4 |
| 17 | g.4933145G= | CA2244625452 | CHRNE,GP1BA | c.541G= (p.Ala181=) c.-888+1197C= (n.-888+1197C=) | |
| 17 | g.4933145G>T | CA397317200 | CHRNE,GP1BA | c.541G>T (p.Ala181Ser) c.-888+1197C>A (n.-888+1197C>A) | |
| 17 | g.4933146C>A | CA397317203 | CHRNE,GP1BA | c.542C>A (p.Ala181Asp) c.-888+1196G>T (n.-888+1196G>T) | |
| 17 | g.4933146C>G | CA397317207 | CHRNE,GP1BA | c.542C>G (p.Ala181Gly) c.-888+1196G>C (n.-888+1196G>C) | |
| 17 | g.4933146C>T | CA397317210 | CHRNE,GP1BA | c.542C>T (p.Ala181Val) c.-888+1196G>A (n.-888+1196G>A) | gnomAD v4 |
| 17 | g.4933147T>A | CA497677588 | CHRNE,GP1BA | c.543T>A (p.Ala181=) c.-888+1195A>T (n.-888+1195A>T) | |
| 17 | g.4933147T>C | CA497677589 | CHRNE,GP1BA | c.543T>C (p.Ala181=) c.-888+1195A>G (n.-888+1195A>G) | |
| 17 | g.4933147T>G | CA497677590 | CHRNE,GP1BA | c.543T>G (p.Ala181=) c.-888+1195A>C (n.-888+1195A>C) | |
| 17 | g.4933148G>A | CA397317226 | CHRNE,GP1BA | c.544G>A (p.Gly182Arg) c.-888+1194C>T (n.-888+1194C>T) | gnomAD v4 |
| 17 | g.4933148G>C | CA397317222 | CHRNE,GP1BA | c.544G>C (p.Gly182Arg) c.-888+1194C>G (n.-888+1194C>G) | |
| 17 | g.4933148G>T | CA397317219 | CHRNE,GP1BA | c.544G>T (p.Gly182Trp) c.-888+1194C>A (n.-888+1194C>A) | |
| 17 | g.4933149G>A | CA397317229 | CHRNE,GP1BA | c.545G>A (p.Gly182Glu) c.-888+1193C>T (n.-888+1193C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933149G>C | CA397317231 | CHRNE,GP1BA | c.545G>C (p.Gly182Ala) c.-888+1193C>G (n.-888+1193C>G) | |
| 17 | g.4933149G= | CA2244625453 | CHRNE,GP1BA | c.545G= (p.Gly182=) c.-888+1193C= (n.-888+1193C=) | |
| 17 | g.4933149G>T | CA397317234 | CHRNE,GP1BA | c.545G>T (p.Gly182Val) c.-888+1193C>A (n.-888+1193C>A) | |
| 17 | g.4933150G>A | CA497677593 | CHRNE,GP1BA | c.546G>A (p.Gly182=) c.-888+1192C>T (n.-888+1192C>T) | gnomAD v4 |
| 17 | g.4933150G>C | CA497677597 | CHRNE,GP1BA | c.546G>C (p.Gly182=) c.-888+1192C>G (n.-888+1192C>G) | |
| 17 | g.4933150G>T | CA497677595 | CHRNE,GP1BA | c.546G>T (p.Gly182=) c.-888+1192C>A (n.-888+1192C>A) | |
| 17 | g.4933151C>A | CA397317236 | CHRNE,GP1BA | c.547C>A (p.Leu183Ile) c.-888+1191G>T (n.-888+1191G>T) | |
| 17 | g.4933151C>G | CA397317239 | CHRNE,GP1BA | c.547C>G (p.Leu183Val) c.-888+1191G>C (n.-888+1191G>C) | |
| 17 | g.4933151C>T | CA397317240 | CHRNE,GP1BA | c.547C>T (p.Leu183Phe) c.-888+1191G>A (n.-888+1191G>A) | gnomAD v4 |
| 17 | g.4933152T>A | CA397317241 | CHRNE,GP1BA | c.548T>A (p.Leu183His) c.-888+1190A>T (n.-888+1190A>T) | |
| 17 | g.4933152T>C | CA397317242 | CHRNE,GP1BA | c.548T>C (p.Leu183Pro) c.-888+1190A>G (n.-888+1190A>G) | gnomAD v4 |
| 17 | g.4933152T>G | CA397317243 | CHRNE,GP1BA | c.548T>G (p.Leu183Arg) c.-888+1190A>C (n.-888+1190A>C) | |
| 17 | g.4933153C>A | CA497677600 | CHRNE,GP1BA | c.549C>A (p.Leu183=) c.-888+1189G>T (n.-888+1189G>T) | gnomAD v4 |
| 17 | g.4933153C>G | CA497677601 | CHRNE,GP1BA | c.549C>G (p.Leu183=) c.-888+1189G>C (n.-888+1189G>C) | |
| 17 | g.4933153C>T | CA497677602 | CHRNE,GP1BA | c.549C>T (p.Leu183=) c.-888+1189G>A (n.-888+1189G>A) | |
| 17 | g.4933154C>A | CA397317244 | CHRNE,GP1BA | c.550C>A (p.Leu184Met) c.-888+1188G>T (n.-888+1188G>T) | |
| 17 | g.4933154C>G | CA397317245 | CHRNE,GP1BA | c.550C>G (p.Leu184Val) c.-888+1188G>C (n.-888+1188G>C) | |
| 17 | g.4933154C>T | CA497677605 | CHRNE,GP1BA | c.550C>T (p.Leu184=) c.-888+1188G>A (n.-888+1188G>A) | |
| 17 | g.4933155T>A | CA397317247 | CHRNE,GP1BA | c.551T>A (p.Leu184Gln) c.-888+1187A>T (n.-888+1187A>T) | ClinVar dbSNP |
| 17 | g.4933155T>C | CA397317248 | CHRNE,GP1BA | c.551T>C (p.Leu184Pro) c.-888+1187A>G (n.-888+1187A>G) | |
| 17 | g.4933155T>G | CA397317250 | CHRNE,GP1BA | c.551T>G (p.Leu184Arg) c.-888+1187A>C (n.-888+1187A>C) | |
| 17 | g.4933156G>A | CA497677610 | CHRNE,GP1BA | c.552G>A (p.Leu184=) c.-888+1186C>T (n.-888+1186C>T) | |
| 17 | g.4933156G>C | CA8314792 | CHRNE,GP1BA | c.552G>C (p.Leu184=) c.-888+1186C>G (n.-888+1186C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933156G= | CA2244625454 | CHRNE,GP1BA | c.552G= (p.Leu184=) c.-888+1186C= (n.-888+1186C=) | |
| 17 | g.4933156G>T | CA497677611 | CHRNE,GP1BA | c.552G>T (p.Leu184=) c.-888+1186C>A (n.-888+1186C>A) | |
| 17 | g.4933157A>C | CA397317253 | CHRNE,GP1BA | c.553A>C (p.Asn185His) c.-888+1185T>G (n.-888+1185T>G) | |
| 17 | g.4933157A>G | CA397317254 | CHRNE,GP1BA | c.553A>G (p.Asn185Asp) c.-888+1185T>C (n.-888+1185T>C) | |
| 17 | g.4933157A>T | CA397317256 | CHRNE,GP1BA | c.553A>T (p.Asn185Tyr) c.-888+1185T>A (n.-888+1185T>A) | |
| 17 | g.4933158A= | CA2244625455 | CHRNE,GP1BA | c.554A= (p.Asn185=) c.-888+1184T= (n.-888+1184T=) | |
| 17 | g.4933158A>C | CA397317258 | CHRNE,GP1BA | c.554A>C (p.Asn185Thr) c.-888+1184T>G (n.-888+1184T>G) | |
| 17 | g.4933158A>G | CA397317260 | CHRNE,GP1BA | c.554A>G (p.Asn185Ser) c.-888+1184T>C (n.-888+1184T>C) | |
| 17 | g.4933158A>T | CA8314793 | CHRNE,GP1BA | c.554A>T (p.Asn185Ile) c.-888+1184T>A (n.-888+1184T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933159_4933194del | CA2695224147 | CHRNE,GP1BA | c.555_590del (p.Asn185_Glu197delinsLys) c.-888+1149_-888+1184del (n.-888+1149_-888+1184del) | ClinVar dbSNP |
| 17 | g.4933159T>A | CA397317263 | CHRNE,GP1BA | c.555T>A (p.Asn185Lys) c.-888+1183A>T (n.-888+1183A>T) | |
| 17 | g.4933159T>C | CA497677616 | CHRNE,GP1BA | c.555T>C (p.Asn185=) c.-888+1183A>G (n.-888+1183A>G) | dbSNP gnomAD v4 |
| 17 | g.4933159T>G | CA397317272 | CHRNE,GP1BA | c.555T>G (p.Asn185Lys) c.-888+1183A>C (n.-888+1183A>C) | |
| 17 | g.4933159T= | CA2244625456 | CHRNE,GP1BA | c.555T= (p.Asn185=) c.-888+1183A= (n.-888+1183A=) | |
| 17 | g.4933160G>A | CA397317276 | CHRNE,GP1BA | c.556G>A (p.Gly186Arg) c.-888+1182C>T (n.-888+1182C>T) | |
| 17 | g.4933160G>C | CA397317281 | CHRNE,GP1BA | c.556G>C (p.Gly186Arg) c.-888+1182C>G (n.-888+1182C>G) | |
| 17 | g.4933160G>T | CA397317289 | CHRNE,GP1BA | c.556G>T (p.Gly186Trp) c.-888+1182C>A (n.-888+1182C>A) | |
| 17 | g.4933161G>A | CA8314794 | CHRNE,GP1BA | c.557G>A (p.Gly186Glu) c.-888+1181C>T (n.-888+1181C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933161G>C | CA397317293 | CHRNE,GP1BA | c.557G>C (p.Gly186Ala) c.-888+1181C>G (n.-888+1181C>G) | gnomAD v4 |
| 17 | g.4933161G= | CA2244625457 | CHRNE,GP1BA | c.557G= (p.Gly186=) c.-888+1181C= (n.-888+1181C=) | |
| 17 | g.4933161G>T | CA397317296 | CHRNE,GP1BA | c.557G>T (p.Gly186Val) c.-888+1181C>A (n.-888+1181C>A) | |
| 17 | g.4933162G>A | CA497677620 | CHRNE,GP1BA | c.558G>A (p.Gly186=) c.-888+1180C>T (n.-888+1180C>T) | |
| 17 | g.4933162G>C | CA497677621 | CHRNE,GP1BA | c.558G>C (p.Gly186=) c.-888+1180C>G (n.-888+1180C>G) | |
| 17 | g.4933162G>T | CA497677623 | CHRNE,GP1BA | c.558G>T (p.Gly186=) c.-888+1180C>A (n.-888+1180C>A) | |
| 17 | g.4933163C>A | CA397317306 | CHRNE,GP1BA | c.559C>A (p.Leu187Met) c.-888+1179G>T (n.-888+1179G>T) | |
| 17 | g.4933163C>G | CA397317304 | CHRNE,GP1BA | c.559C>G (p.Leu187Val) c.-888+1179G>C (n.-888+1179G>C) | |
| 17 | g.4933163C>T | CA497677624 | CHRNE,GP1BA | c.559C>T (p.Leu187=) c.-888+1179G>A (n.-888+1179G>A) | |
| 17 | g.4933164T>A | CA397317310 | CHRNE,GP1BA | c.560T>A (p.Leu187Gln) c.-888+1178A>T (n.-888+1178A>T) | |
| 17 | g.4933164T>C | CA397317322 | CHRNE,GP1BA | c.560T>C (p.Leu187Pro) c.-888+1178A>G (n.-888+1178A>G) | |
| 17 | g.4933164T>G | CA397317313 | CHRNE,GP1BA | c.560T>G (p.Leu187Arg) c.-888+1178A>C (n.-888+1178A>C) | |
| 17 | g.4933165G>A | CA497677630 | CHRNE,GP1BA | c.561G>A (p.Leu187=) c.-888+1177C>T (n.-888+1177C>T) | |
| 17 | g.4933165G>C | CA497677631 | CHRNE,GP1BA | c.561G>C (p.Leu187=) c.-888+1177C>G (n.-888+1177C>G) | |
| 17 | g.4933165G>T | CA497677633 | CHRNE,GP1BA | c.561G>T (p.Leu187=) c.-888+1177C>A (n.-888+1177C>A) | |
| 17 | g.4933166G>A | CA397317327 | CHRNE,GP1BA | c.562G>A (p.Glu188Lys) c.-888+1176C>T (n.-888+1176C>T) | |
| 17 | g.4933166G>C | CA397317331 | CHRNE,GP1BA | c.562G>C (p.Glu188Gln) c.-888+1176C>G (n.-888+1176C>G) | |
| 17 | g.4933166G>T | CA397317328 | CHRNE,GP1BA | c.562G>T (p.Glu188Ter) c.-888+1176C>A (n.-888+1176C>A) | |
| 17 | g.4933167A>C | CA397317337 | CHRNE,GP1BA | c.563A>C (p.Glu188Ala) c.-888+1175T>G (n.-888+1175T>G) | |
| 17 | g.4933167A>G | CA397317341 | CHRNE,GP1BA | c.563A>G (p.Glu188Gly) c.-888+1175T>C (n.-888+1175T>C) | |
| 17 | g.4933167A>T | CA397317339 | CHRNE,GP1BA | c.563A>T (p.Glu188Val) c.-888+1175T>A (n.-888+1175T>A) | |
| 17 | g.4933168G>A | CA8314795 | CHRNE,GP1BA | c.564G>A (p.Glu188=) c.-888+1174C>T (n.-888+1174C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933168G>C | CA397317355 | CHRNE,GP1BA | c.564G>C (p.Glu188Asp) c.-888+1174C>G (n.-888+1174C>G) | |
| 17 | g.4933168G= | CA2244625458 | CHRNE,GP1BA | c.564G= (p.Glu188=) c.-888+1174C= (n.-888+1174C=) | |
| 17 | g.4933168G>T | CA397317347 | CHRNE,GP1BA | c.564G>T (p.Glu188Asp) c.-888+1174C>A (n.-888+1174C>A) | |
| 17 | g.4933169A>C | CA397317356 | CHRNE,GP1BA | c.565A>C (p.Asn189His) c.-888+1173T>G (n.-888+1173T>G) | |
| 17 | g.4933169A>G | CA397317360 | CHRNE,GP1BA | c.565A>G (p.Asn189Asp) c.-888+1173T>C (n.-888+1173T>C) | |
| 17 | g.4933169A>T | CA397317364 | CHRNE,GP1BA | c.565A>T (p.Asn189Tyr) c.-888+1173T>A (n.-888+1173T>A) | |
| 17 | g.4933170A>C | CA397317367 | CHRNE,GP1BA | c.566A>C (p.Asn189Thr) c.-888+1172T>G (n.-888+1172T>G) | |
| 17 | g.4933170A>G | CA397317369 | CHRNE,GP1BA | c.566A>G (p.Asn189Ser) c.-888+1172T>C (n.-888+1172T>C) | |
| 17 | g.4933170A>T | CA397317372 | CHRNE,GP1BA | c.566A>T (p.Asn189Ile) c.-888+1172T>A (n.-888+1172T>A) | gnomAD v4 |
| 17 | g.4933171T>A | CA397317373 | CHRNE,GP1BA | c.567T>A (p.Asn189Lys) c.-888+1171A>T (n.-888+1171A>T) | gnomAD v4 |
| 17 | g.4933171T>C | CA497677640 | CHRNE,GP1BA | c.567T>C (p.Asn189=) c.-888+1171A>G (n.-888+1171A>G) | |
| 17 | g.4933171T>G | CA397317376 | CHRNE,GP1BA | c.567T>G (p.Asn189Lys) c.-888+1171A>C (n.-888+1171A>C) | |
| 17 | g.4933172C>A | CA397317380 | CHRNE,GP1BA | c.568C>A (p.Leu190Ile) c.-888+1170G>T (n.-888+1170G>T) | |
| 17 | g.4933172C>G | CA397317383 | CHRNE,GP1BA | c.568C>G (p.Leu190Val) c.-888+1170G>C (n.-888+1170G>C) | |
| 17 | g.4933172C>T | CA397317384 | CHRNE,GP1BA | c.568C>T (p.Leu190Phe) c.-888+1170G>A (n.-888+1170G>A) | gnomAD v4 |
| 17 | g.4933173T>A | CA397317388 | CHRNE,GP1BA | c.569T>A (p.Leu190His) c.-888+1169A>T (n.-888+1169A>T) | |
| 17 | g.4933173T>C | CA397317394 | CHRNE,GP1BA | c.569T>C (p.Leu190Pro) c.-888+1169A>G (n.-888+1169A>G) | |
| 17 | g.4933173T>G | CA397317391 | CHRNE,GP1BA | c.569T>G (p.Leu190Arg) c.-888+1169A>C (n.-888+1169A>C) | |
| 17 | g.4933174C>A | CA497677647 | CHRNE,GP1BA | c.570C>A (p.Leu190=) c.-888+1168G>T (n.-888+1168G>T) | gnomAD v4 |
| 17 | g.4933174C= | CA2244625459 | CHRNE,GP1BA | c.570C= (p.Leu190=) c.-888+1168G= (n.-888+1168G=) | |
| 17 | g.4933174C>G | CA497677650 | CHRNE,GP1BA | c.570C>G (p.Leu190=) c.-888+1168G>C (n.-888+1168G>C) | |
| 17 | g.4933174C>T | CA8314796 | CHRNE,GP1BA | c.570C>T (p.Leu190=) c.-888+1168G>A (n.-888+1168G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933175G>A | CA8314797 | CHRNE,GP1BA | c.571G>A (p.Asp191Asn) c.-888+1167C>T (n.-888+1167C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933175G>C | CA397317401 | CHRNE,GP1BA | c.571G>C (p.Asp191His) c.-888+1167C>G (n.-888+1167C>G) | gnomAD v4 |
| 17 | g.4933175G= | CA2244625460 | CHRNE,GP1BA | c.571G= (p.Asp191=) c.-888+1167C= (n.-888+1167C=) | |
| 17 | g.4933175G>T | CA397317402 | CHRNE,GP1BA | c.571G>T (p.Asp191Tyr) c.-888+1167C>A (n.-888+1167C>A) | |
| 17 | g.4933176A>C | CA397317403 | CHRNE,GP1BA | c.572A>C (p.Asp191Ala) c.-888+1166T>G (n.-888+1166T>G) | |
| 17 | g.4933176A>G | CA397317405 | CHRNE,GP1BA | c.572A>G (p.Asp191Gly) c.-888+1166T>C (n.-888+1166T>C) | |
| 17 | g.4933176A>T | CA397317407 | CHRNE,GP1BA | c.572A>T (p.Asp191Val) c.-888+1166T>A (n.-888+1166T>A) | gnomAD v4 |
| 17 | g.4933177C>A | CA397317413 | CHRNE,GP1BA | c.573C>A (p.Asp191Glu) c.-888+1165G>T (n.-888+1165G>T) | |
| 17 | g.4933177C>G | CA397317415 | CHRNE,GP1BA | c.573C>G (p.Asp191Glu) c.-888+1165G>C (n.-888+1165G>C) | |
| 17 | g.4933177C>T | CA497677652 | CHRNE,GP1BA | c.573C>T (p.Asp191=) c.-888+1165G>A (n.-888+1165G>A) | |
| 17 | g.4933178A>C | CA397317421 | CHRNE,GP1BA | c.574A>C (p.Thr192Pro) c.-888+1164T>G (n.-888+1164T>G) | |
| 17 | g.4933178A>G | CA397317423 | CHRNE,GP1BA | c.574A>G (p.Thr192Ala) c.-888+1164T>C (n.-888+1164T>C) | |
| 17 | g.4933178A>T | CA397317419 | CHRNE,GP1BA | c.574A>T (p.Thr192Ser) c.-888+1164T>A (n.-888+1164T>A) | |
| 17 | g.4933179C>A | CA397317435 | CHRNE,GP1BA | c.575C>A (p.Thr192Asn) c.-888+1163G>T (n.-888+1163G>T) | |
| 17 | g.4933179C= | CA2244625461 | CHRNE,GP1BA | c.575C= (p.Thr192=) c.-888+1163G= (n.-888+1163G=) | |
| 17 | g.4933179C>G | CA8314798 | CHRNE,GP1BA | c.575C>G (p.Thr192Ser) c.-888+1163G>C (n.-888+1163G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933179C>T | CA397317441 | CHRNE,GP1BA | c.575C>T (p.Thr192Ile) c.-888+1163G>A (n.-888+1163G>A) | |
| 17 | g.4933180C>A | CA497677655 | CHRNE,GP1BA | c.576C>A (p.Thr192=) c.-888+1162G>T (n.-888+1162G>T) | |
| 17 | g.4933180C= | CA2244625462 | CHRNE,GP1BA | c.576C= (p.Thr192=) c.-888+1162G= (n.-888+1162G=) | |
| 17 | g.4933180C>G | CA8314799 | CHRNE,GP1BA | c.576C>G (p.Thr192=) c.-888+1162G>C (n.-888+1162G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933180C>T | CA497677657 | CHRNE,GP1BA | c.576C>T (p.Thr192=) c.-888+1162G>A (n.-888+1162G>A) | gnomAD v4 |
| 17 | g.4933181C>A | CA397317455 | CHRNE,GP1BA | c.577C>A (p.Leu193Ile) c.-888+1161G>T (n.-888+1161G>T) | |
| 17 | g.4933181C= | CA2244625463 | CHRNE,GP1BA | c.577C= (p.Leu193=) c.-888+1161G= (n.-888+1161G=) | |
| 17 | g.4933181C>G | CA397317450 | CHRNE,GP1BA | c.577C>G (p.Leu193Val) c.-888+1161G>C (n.-888+1161G>C) | gnomAD v4 |
| 17 | g.4933181C>T | CA8314800 | CHRNE,GP1BA | c.577C>T (p.Leu193Phe) c.-888+1161G>A (n.-888+1161G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933182T>A | CA397317459 | CHRNE,GP1BA | c.578T>A (p.Leu193His) c.-888+1160A>T (n.-888+1160A>T) | |
| 17 | g.4933182T>C | CA397317465 | CHRNE,GP1BA | c.578T>C (p.Leu193Pro) c.-888+1160A>G (n.-888+1160A>G) | |
| 17 | g.4933182T>G | CA397317468 | CHRNE,GP1BA | c.578T>G (p.Leu193Arg) c.-888+1160A>C (n.-888+1160A>C) | |
| 17 | g.4933183T>A | CA497677661 | CHRNE,GP1BA | c.579T>A (p.Leu193=) c.-888+1159A>T (n.-888+1159A>T) | |
| 17 | g.4933183T>C | CA497677663 | CHRNE,GP1BA | c.579T>C (p.Leu193=) c.-888+1159A>G (n.-888+1159A>G) | |
| 17 | g.4933183T>G | CA497677664 | CHRNE,GP1BA | c.579T>G (p.Leu193=) c.-888+1159A>C (n.-888+1159A>C) | |
| 17 | g.4933184C>A | CA397317470 | CHRNE,GP1BA | c.580C>A (p.Leu194Ile) c.-888+1158G>T (n.-888+1158G>T) | gnomAD v4 |
| 17 | g.4933184C= | CA2244625464 | CHRNE,GP1BA | c.580C= (p.Leu194=) c.-888+1158G= (n.-888+1158G=) | |
| 17 | g.4933184C>G | CA397317472 | CHRNE,GP1BA | c.580C>G (p.Leu194Val) c.-888+1158G>C (n.-888+1158G>C) | |
| 17 | g.4933184C>T | CA8314801 | CHRNE,GP1BA | c.580C>T (p.Leu194Phe) c.-888+1158G>A (n.-888+1158G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933188_4933190del | CA658820706 | CHRNE,GP1BA | c.584_586del (p.Leu195del) c.-888+1156_-888+1158del (n.-888+1156_-888+1158del) | ClinVar |
| 17 | g.4933185T>A | CA397317478 | CHRNE,GP1BA | c.581T>A (p.Leu194His) c.-888+1157A>T (n.-888+1157A>T) | |
| 17 | g.4933185T>C | CA397317484 | CHRNE,GP1BA | c.581T>C (p.Leu194Pro) c.-888+1157A>G (n.-888+1157A>G) | |
| 17 | g.4933185T>G | CA397317482 | CHRNE,GP1BA | c.581T>G (p.Leu194Arg) c.-888+1157A>C (n.-888+1157A>C) | |
| 17 | g.4933186C>A | CA497677666 | CHRNE,GP1BA | c.582C>A (p.Leu194=) c.-888+1156G>T (n.-888+1156G>T) | gnomAD v4 |
| 17 | g.4933186C>G | CA497677668 | CHRNE,GP1BA | c.582C>G (p.Leu194=) c.-888+1156G>C (n.-888+1156G>C) | |
| 17 | g.4933186C>T | CA497677670 | CHRNE,GP1BA | c.582C>T (p.Leu194=) c.-888+1156G>A (n.-888+1156G>A) | ClinVar |
| 17 | g.4933187C>A | CA397317487 | CHRNE,GP1BA | c.583C>A (p.Leu195Ile) c.-888+1155G>T (n.-888+1155G>T) | |
| 17 | g.4933187C= | CA2244625465 | CHRNE,GP1BA | c.583C= (p.Leu195=) c.-888+1155G= (n.-888+1155G=) | |
| 17 | g.4933187C>G | CA397317491 | CHRNE,GP1BA | c.583C>G (p.Leu195Val) c.-888+1155G>C (n.-888+1155G>C) | |
| 17 | g.4933187C>T | CA8314802 | CHRNE,GP1BA | c.583C>T (p.Leu195Phe) c.-888+1155G>A (n.-888+1155G>A) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933188T>A | CA397317504 | CHRNE,GP1BA | c.584T>A (p.Leu195His) c.-888+1154A>T (n.-888+1154A>T) | |
| 17 | g.4933188T>C | CA397317508 | CHRNE,GP1BA | c.584T>C (p.Leu195Pro) c.-888+1154A>G (n.-888+1154A>G) | |
| 17 | g.4933188T>G | CA397317511 | CHRNE,GP1BA | c.584T>G (p.Leu195Arg) c.-888+1154A>C (n.-888+1154A>C) | |
| 17 | g.4933189C>A | CA497677671 | CHRNE,GP1BA | c.585C>A (p.Leu195=) c.-888+1153G>T (n.-888+1153G>T) | |
| 17 | g.4933189C>G | CA497677673 | CHRNE,GP1BA | c.585C>G (p.Leu195=) c.-888+1153G>C (n.-888+1153G>C) | |
| 17 | g.4933189C>T | CA497677674 | CHRNE,GP1BA | c.585C>T (p.Leu195=) c.-888+1153G>A (n.-888+1153G>A) | COSMIC |
| 17 | g.4933190C>A | CA397317514 | CHRNE,GP1BA | c.586C>A (p.Gln196Lys) c.-888+1152G>T (n.-888+1152G>T) | |
| 17 | g.4933190C= | CA2244625466 | CHRNE,GP1BA | c.586C= (p.Gln196=) c.-888+1152G= (n.-888+1152G=) | |
| 17 | g.4933190C>G | CA397317519 | CHRNE,GP1BA | c.586C>G (p.Gln196Glu) c.-888+1152G>C (n.-888+1152G>C) | |
| 17 | g.4933190C>T | CA287216296 | CHRNE,GP1BA | c.586C>T (p.Gln196Ter) c.-888+1152G>A (n.-888+1152G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933191A>C | CA397317525 | CHRNE,GP1BA | c.587A>C (p.Gln196Pro) c.-888+1151T>G (n.-888+1151T>G) | |
| 17 | g.4933191A>G | CA397317529 | CHRNE,GP1BA | c.587A>G (p.Gln196Arg) c.-888+1151T>C (n.-888+1151T>C) | |
| 17 | g.4933191A>T | CA397317531 | CHRNE,GP1BA | c.587A>T (p.Gln196Leu) c.-888+1151T>A (n.-888+1151T>A) | |
| 17 | g.4933192A= | CA2244625467 | CHRNE,GP1BA | c.588A= (p.Gln196=) c.-888+1150T= (n.-888+1150T=) | |
| 17 | g.4933192A>C | CA397317536 | CHRNE,GP1BA | c.588A>C (p.Gln196His) c.-888+1150T>G (n.-888+1150T>G) | |
| 17 | g.4933192A>G | CA497677677 | CHRNE,GP1BA | c.588A>G (p.Gln196=) c.-888+1150T>C (n.-888+1150T>C) | ClinVar dbSNP |
| 17 | g.4933192A>T | CA397317534 | CHRNE,GP1BA | c.588A>T (p.Gln196His) c.-888+1150T>A (n.-888+1150T>A) | |
| 17 | g.4933193G>A | CA397317540 | CHRNE,GP1BA | c.589G>A (p.Glu197Lys) c.-888+1149C>T (n.-888+1149C>T) | dbSNP |
| 17 | g.4933193G>C | CA397317544 | CHRNE,GP1BA | c.589G>C (p.Glu197Gln) c.-888+1149C>G (n.-888+1149C>G) | |
| 17 | g.4933193G= | CA2244625468 | CHRNE,GP1BA | c.589G= (p.Glu197=) c.-888+1149C= (n.-888+1149C=) | |
| 17 | g.4933193G>T | CA397317542 | CHRNE,GP1BA | c.589G>T (p.Glu197Ter) c.-888+1149C>A (n.-888+1149C>A) | |
| 17 | g.4933194A>C | CA397317550 | CHRNE,GP1BA | c.590A>C (p.Glu197Ala) c.-888+1148T>G (n.-888+1148T>G) | |
| 17 | g.4933194A>G | CA397317554 | CHRNE,GP1BA | c.590A>G (p.Glu197Gly) c.-888+1148T>C (n.-888+1148T>C) | |
| 17 | g.4933194A>T | CA397317561 | CHRNE,GP1BA | c.590A>T (p.Glu197Val) c.-888+1148T>A (n.-888+1148T>A) | |
| 17 | g.4933195G>A | CA497677678 | CHRNE,GP1BA | c.591G>A (p.Glu197=) c.-888+1147C>T (n.-888+1147C>T) | COSMIC |
| 17 | g.4933195G>C | CA397317565 | CHRNE,GP1BA | c.591G>C (p.Glu197Asp) c.-888+1147C>G (n.-888+1147C>G) | |
| 17 | g.4933195G>T | CA397317567 | CHRNE,GP1BA | c.591G>T (p.Glu197Asp) c.-888+1147C>A (n.-888+1147C>A) | COSMIC |
| 17 | g.4933196A>C | CA397317571 | CHRNE,GP1BA | c.592A>C (p.Asn198His) c.-888+1146T>G (n.-888+1146T>G) | |
| 17 | g.4933196A>G | CA397317575 | CHRNE,GP1BA | c.592A>G (p.Asn198Asp) c.-888+1146T>C (n.-888+1146T>C) | |
| 17 | g.4933196A>T | CA397317577 | CHRNE,GP1BA | c.592A>T (p.Asn198Tyr) c.-888+1146T>A (n.-888+1146T>A) | |
| 17 | g.4933197A>C | CA397317579 | CHRNE,GP1BA | c.593A>C (p.Asn198Thr) c.-888+1145T>G (n.-888+1145T>G) | |
| 17 | g.4933197A>G | CA397317586 | CHRNE,GP1BA | c.593A>G (p.Asn198Ser) c.-888+1145T>C (n.-888+1145T>C) | |
| 17 | g.4933197A>T | CA397317589 | CHRNE,GP1BA | c.593A>T (p.Asn198Ile) c.-888+1145T>A (n.-888+1145T>A) | |
| 17 | g.4933198C>A | CA397317598 | CHRNE,GP1BA | c.594C>A (p.Asn198Lys) c.-888+1144G>T (n.-888+1144G>T) | |
| 17 | g.4933198C= | CA2244625469 | CHRNE,GP1BA | c.594C= (p.Asn198=) c.-888+1144G= (n.-888+1144G=) | |
| 17 | g.4933198C>G | CA397317596 | CHRNE,GP1BA | c.594C>G (p.Asn198Lys) c.-888+1144G>C (n.-888+1144G>C) | |
| 17 | g.4933198C>T | CA8314803 | CHRNE,GP1BA | c.594C>T (p.Asn198=) c.-888+1144G>A (n.-888+1144G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933199T>A | CA397317602 | CHRNE,GP1BA | c.595T>A (p.Ser199Thr) c.-888+1143A>T (n.-888+1143A>T) | |
| 17 | g.4933199T>C | CA397317603 | CHRNE,GP1BA | c.595T>C (p.Ser199Pro) c.-888+1143A>G (n.-888+1143A>G) | gnomAD v4 |
| 17 | g.4933199T>G | CA397317605 | CHRNE,GP1BA | c.595T>G (p.Ser199Ala) c.-888+1143A>C (n.-888+1143A>C) | |
| 17 | g.4933200C>A | CA397317608 | CHRNE,GP1BA | c.596C>A (p.Ser199Ter) c.-888+1142G>T (n.-888+1142G>T) | |
| 17 | g.4933200C= | CA2244625470 | CHRNE,GP1BA | c.596C= (p.Ser199=) c.-888+1142G= (n.-888+1142G=) | |
| 17 | g.4933200C>G | CA397317611 | CHRNE,GP1BA | c.596C>G (p.Ser199Trp) c.-888+1142G>C (n.-888+1142G>C) | |
| 17 | g.4933200C>T | CA8314804 | CHRNE,GP1BA | c.596C>T (p.Ser199Leu) c.-888+1142G>A (n.-888+1142G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933201del | CA2635578784 | CHRNE,GP1BA | c.597del (p.Leu200CysfsTer?) c.-888+1141del (n.-888+1141del) | gnomAD v4 |
| 17 | g.4933201G>A | CA8314805 | CHRNE,GP1BA | c.597G>A (p.Ser199=) c.-888+1141C>T (n.-888+1141C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933201G>C | CA497677679 | CHRNE,GP1BA | c.597G>C (p.Ser199=) c.-888+1141C>G (n.-888+1141C>G) | |
| 17 | g.4933201G= | CA2244625471 | CHRNE,GP1BA | c.597G= (p.Ser199=) c.-888+1141C= (n.-888+1141C=) | |
| 17 | g.4933201G>T | CA497677680 | CHRNE,GP1BA | c.597G>T (p.Ser199=) c.-888+1141C>A (n.-888+1141C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933202C>A | CA397317617 | CHRNE,GP1BA | c.598C>A (p.Leu200Met) c.-888+1140G>T (n.-888+1140G>T) | |
| 17 | g.4933202C>G | CA397317618 | CHRNE,GP1BA | c.598C>G (p.Leu200Val) c.-888+1140G>C (n.-888+1140G>C) | |
| 17 | g.4933202C>T | CA497677681 | CHRNE,GP1BA | c.598C>T (p.Leu200=) c.-888+1140G>A (n.-888+1140G>A) | |
| 17 | g.4933203T>A | CA397317622 | CHRNE,GP1BA | c.599T>A (p.Leu200Gln) c.-888+1139A>T (n.-888+1139A>T) | |
| 17 | g.4933203T>C | CA8314806 | CHRNE,GP1BA | c.599T>C (p.Leu200Pro) c.-888+1139A>G (n.-888+1139A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933203T>G | CA397317624 | CHRNE,GP1BA | c.599T>G (p.Leu200Arg) c.-888+1139A>C (n.-888+1139A>C) | |
| 17 | g.4933203T= | CA2244625472 | CHRNE,GP1BA | c.599T= (p.Leu200=) c.-888+1139A= (n.-888+1139A=) | |
| 17 | g.4933204G>A | CA497677682 | CHRNE,GP1BA | c.600G>A (p.Leu200=) c.-888+1138C>T (n.-888+1138C>T) | |
| 17 | g.4933204G>C | CA497677683 | CHRNE,GP1BA | c.600G>C (p.Leu200=) c.-888+1138C>G (n.-888+1138C>G) | |
| 17 | g.4933204G>T | CA497677684 | CHRNE,GP1BA | c.600G>T (p.Leu200=) c.-888+1138C>A (n.-888+1138C>A) | |
| 17 | g.4933205T>A | CA397317631 | CHRNE,GP1BA | c.601T>A (p.Tyr201Asn) c.-888+1137A>T (n.-888+1137A>T) | |
| 17 | g.4933205T>C | CA397317628 | CHRNE,GP1BA | c.601T>C (p.Tyr201His) c.-888+1137A>G (n.-888+1137A>G) | COSMIC |
| 17 | g.4933205T>G | CA397317626 | CHRNE,GP1BA | c.601T>G (p.Tyr201Asp) c.-888+1137A>C (n.-888+1137A>C) | |
| 17 | g.4933206A= | CA2244625473 | CHRNE,GP1BA | c.602A= (p.Tyr201=) c.-888+1136T= (n.-888+1136T=) | |
| 17 | g.4933206A>C | CA397317632 | CHRNE,GP1BA | c.602A>C (p.Tyr201Ser) c.-888+1136T>G (n.-888+1136T>G) | |
| 17 | g.4933206A>G | CA287216322 | CHRNE,GP1BA | c.602A>G (p.Tyr201Cys) c.-888+1136T>C (n.-888+1136T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933206A>T | CA397317637 | CHRNE,GP1BA | c.602A>T (p.Tyr201Phe) c.-888+1136T>A (n.-888+1136T>A) | |
| 17 | g.4933207T>A | CA397317640 | CHRNE,GP1BA | c.603T>A (p.Tyr201Ter) c.-888+1135A>T (n.-888+1135A>T) | |
| 17 | g.4933207T>C | CA497677685 | CHRNE,GP1BA | c.603T>C (p.Tyr201=) c.-888+1135A>G (n.-888+1135A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933207T>G | CA397317642 | CHRNE,GP1BA | c.603T>G (p.Tyr201Ter) c.-888+1135A>C (n.-888+1135A>C) | |
| 17 | g.4933207T= | CA2244625474 | CHRNE,GP1BA | c.603T= (p.Tyr201=) c.-888+1135A= (n.-888+1135A=) | |
| 17 | g.4933208A>C | CA397317650 | CHRNE,GP1BA | c.604A>C (p.Thr202Pro) c.-888+1134T>G (n.-888+1134T>G) | |
| 17 | g.4933208A>G | CA397317648 | CHRNE,GP1BA | c.604A>G (p.Thr202Ala) c.-888+1134T>C (n.-888+1134T>C) | |
| 17 | g.4933208A>T | CA397317645 | CHRNE,GP1BA | c.604A>T (p.Thr202Ser) c.-888+1134T>A (n.-888+1134T>A) | |
| 17 | g.4933209C>A | CA397317651 | CHRNE,GP1BA | c.605C>A (p.Thr202Lys) c.-888+1133G>T (n.-888+1133G>T) | |
| 17 | g.4933209C>G | CA397317652 | CHRNE,GP1BA | c.605C>G (p.Thr202Arg) c.-888+1133G>C (n.-888+1133G>C) | |
| 17 | g.4933209C>T | CA397317654 | CHRNE,GP1BA | c.605C>T (p.Thr202Ile) c.-888+1133G>A (n.-888+1133G>A) | gnomAD v4 |
| 17 | g.4933210A= | CA2244625475 | CHRNE,GP1BA | c.606A= (p.Thr202=) c.-888+1132T= (n.-888+1132T=) | |
| 17 | g.4933210A>C | CA497677688 | CHRNE,GP1BA | c.606A>C (p.Thr202=) c.-888+1132T>G (n.-888+1132T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933210A>G | CA497677687 | CHRNE,GP1BA | c.606A>G (p.Thr202=) c.-888+1132T>C (n.-888+1132T>C) | dbSNP COSMIC |
| 17 | g.4933210A>T | CA497677686 | CHRNE,GP1BA | c.606A>T (p.Thr202=) c.-888+1132T>A (n.-888+1132T>A) | |
| 17 | g.4933211A>C | CA397317657 | CHRNE,GP1BA | c.607A>C (p.Ile203Leu) c.-888+1131T>G (n.-888+1131T>G) | |
| 17 | g.4933211A>G | CA397317660 | CHRNE,GP1BA | c.607A>G (p.Ile203Val) c.-888+1131T>C (n.-888+1131T>C) | |
| 17 | g.4933211A>T | CA397317662 | CHRNE,GP1BA | c.607A>T (p.Ile203Leu) c.-888+1131T>A (n.-888+1131T>A) | |
| 17 | g.4933212T>A | CA397317664 | CHRNE,GP1BA | c.608T>A (p.Ile203Lys) c.-888+1130A>T (n.-888+1130A>T) | |
| 17 | g.4933212T>C | CA397317669 | CHRNE,GP1BA | c.608T>C (p.Ile203Thr) c.-888+1130A>G (n.-888+1130A>G) | gnomAD v4 |
| 17 | g.4933212T>G | CA397317666 | CHRNE,GP1BA | c.608T>G (p.Ile203Arg) c.-888+1130A>C (n.-888+1130A>C) | |
| 17 | g.4933213A>C | CA497677170 | CHRNE,GP1BA | c.609A>C (p.Ile203=) c.-888+1129T>G (n.-888+1129T>G) | |
| 17 | g.4933213A>G | CA397317671 | CHRNE,GP1BA | c.609A>G (p.Ile203Met) c.-888+1129T>C (n.-888+1129T>C) | |
| 17 | g.4933213A>T | CA497677171 | CHRNE,GP1BA | c.609A>T (p.Ile203=) c.-888+1129T>A (n.-888+1129T>A) | |
| 17 | g.4933214C>A | CA397317673 | CHRNE,GP1BA | c.610C>A (p.Pro204Thr) c.-888+1128G>T (n.-888+1128G>T) | |
| 17 | g.4933214C= | CA2244625476 | CHRNE,GP1BA | c.610C= (p.Pro204=) c.-888+1128G= (n.-888+1128G=) | |
| 17 | g.4933214C>G | CA397317675 | CHRNE,GP1BA | c.610C>G (p.Pro204Ala) c.-888+1128G>C (n.-888+1128G>C) | |
| 17 | g.4933214C>T | CA397317676 | CHRNE,GP1BA | c.610C>T (p.Pro204Ser) c.-888+1128G>A (n.-888+1128G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933215C>A | CA397317677 | CHRNE,GP1BA | c.611C>A (p.Pro204Gln) c.-888+1127G>T (n.-888+1127G>T) | |
| 17 | g.4933215C>G | CA397317680 | CHRNE,GP1BA | c.611C>G (p.Pro204Arg) c.-888+1127G>C (n.-888+1127G>C) | |
| 17 | g.4933215C>T | CA397317683 | CHRNE,GP1BA | c.611C>T (p.Pro204Leu) c.-888+1127G>A (n.-888+1127G>A) | |
| 17 | g.4933216A>C | CA497677172 | CHRNE,GP1BA | c.612A>C (p.Pro204=) c.-888+1126T>G (n.-888+1126T>G) | |
| 17 | g.4933216A>G | CA497677174 | CHRNE,GP1BA | c.612A>G (p.Pro204=) c.-888+1126T>C (n.-888+1126T>C) | |
| 17 | g.4933216A>T | CA497677173 | CHRNE,GP1BA | c.612A>T (p.Pro204=) c.-888+1126T>A (n.-888+1126T>A) | |
| 17 | g.4933217A>C | CA397317687 | CHRNE,GP1BA | c.613A>C (p.Lys205Gln) c.-888+1125T>G (n.-888+1125T>G) | |
| 17 | g.4933217A>G | CA397317689 | CHRNE,GP1BA | c.613A>G (p.Lys205Glu) c.-888+1125T>C (n.-888+1125T>C) | |
| 17 | g.4933217A>T | CA397317691 | CHRNE,GP1BA | c.613A>T (p.Lys205Ter) c.-888+1125T>A (n.-888+1125T>A) | |
| 17 | g.4933218A>C | CA397317699 | CHRNE,GP1BA | c.614A>C (p.Lys205Thr) c.-888+1124T>G (n.-888+1124T>G) | |
| 17 | g.4933218A>G | CA397317697 | CHRNE,GP1BA | c.614A>G (p.Lys205Arg) c.-888+1124T>C (n.-888+1124T>C) | |
| 17 | g.4933218A>T | CA397317695 | CHRNE,GP1BA | c.614A>T (p.Lys205Met) c.-888+1124T>A (n.-888+1124T>A) | |
| 17 | g.4933219G>A | CA497677175 | CHRNE,GP1BA | c.615G>A (p.Lys205=) c.-888+1123C>T (n.-888+1123C>T) | |
| 17 | g.4933219G>C | CA397317702 | CHRNE,GP1BA | c.615G>C (p.Lys205Asn) c.-888+1123C>G (n.-888+1123C>G) | |
| 17 | g.4933219G>T | CA397317705 | CHRNE,GP1BA | c.615G>T (p.Lys205Asn) c.-888+1123C>A (n.-888+1123C>A) | |
| 17 | g.4933220G>A | CA397317707 | CHRNE,GP1BA | c.616G>A (p.Gly206Ser) c.-888+1122C>T (n.-888+1122C>T) | |
| 17 | g.4933220G>C | CA397317710 | CHRNE,GP1BA | c.616G>C (p.Gly206Arg) c.-888+1122C>G (n.-888+1122C>G) | |
| 17 | g.4933220G>T | CA397317714 | CHRNE,GP1BA | c.616G>T (p.Gly206Cys) c.-888+1122C>A (n.-888+1122C>A) | |
| 17 | g.4933221G>A | CA397317715 | CHRNE,GP1BA | c.617G>A (p.Gly206Asp) c.-888+1121C>T (n.-888+1121C>T) | |
| 17 | g.4933221G>C | CA397317717 | CHRNE,GP1BA | c.617G>C (p.Gly206Ala) c.-888+1121C>G (n.-888+1121C>G) | |
| 17 | g.4933221G>T | CA397317720 | CHRNE,GP1BA | c.617G>T (p.Gly206Val) c.-888+1121C>A (n.-888+1121C>A) | |
| 17 | g.4933222C>A | CA497677176 | CHRNE,GP1BA | c.618C>A (p.Gly206=) c.-888+1120G>T (n.-888+1120G>T) | |
| 17 | g.4933222C>G | CA497677177 | CHRNE,GP1BA | c.618C>G (p.Gly206=) c.-888+1120G>C (n.-888+1120G>C) | |
| 17 | g.4933222C>T | CA497677178 | CHRNE,GP1BA | c.618C>T (p.Gly206=) c.-888+1120G>A (n.-888+1120G>A) | |
| 17 | g.4933222_4933223delinsCT | CA2244625477 | CHRNE,GP1BA | c.618_619delinsCT (p.Gly206=) c.-888+1119_-888+1120delinsAG (n.-888+1119_-888+1120delinsAG) | |
| 17 | g.4933223T>A | CA397317735 | CHRNE,GP1BA | c.619T>A (p.Phe207Ile) c.-888+1119A>T (n.-888+1119A>T) | |
| 17 | g.4933223T>C | CA397317727 | CHRNE,GP1BA | c.619T>C (p.Phe207Leu) c.-888+1119A>G (n.-888+1119A>G) | |
| 17 | g.4933223T>G | CA397317733 | CHRNE,GP1BA | c.619T>G (p.Phe207Val) c.-888+1119A>C (n.-888+1119A>C) | |
| 17 | g.4933228dup | CA645597027 | CHRNE,GP1BA | c.624dup (p.Gly209TrpfsTer20) c.-888+1119dup (n.-888+1119dup) | COSMIC |
| 17 | g.4933228del | CA287216329 | CHRNE,GP1BA | c.624del (p.Phe208LeufsTer?) c.-888+1119del (n.-888+1119del) | dbSNP gnomAD v2 |
| 17 | g.4933224T>A | CA397317737 | CHRNE,GP1BA | c.620T>A (p.Phe207Tyr) c.-888+1118A>T (n.-888+1118A>T) | |
| 17 | g.4933224T>C | CA397317739 | CHRNE,GP1BA | c.620T>C (p.Phe207Ser) c.-888+1118A>G (n.-888+1118A>G) | |
| 17 | g.4933224T>G | CA397317742 | CHRNE,GP1BA | c.620T>G (p.Phe207Cys) c.-888+1118A>C (n.-888+1118A>C) | |
| 17 | g.4933225T>A | CA397317744 | CHRNE,GP1BA | c.621T>A (p.Phe207Leu) c.-888+1117A>T (n.-888+1117A>T) | |
| 17 | g.4933225T>C | CA8314807 | CHRNE,GP1BA | c.621T>C (p.Phe207=) c.-888+1117A>G (n.-888+1117A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933225T>G | CA397317747 | CHRNE,GP1BA | c.621T>G (p.Phe207Leu) c.-888+1117A>C (n.-888+1117A>C) | |
| 17 | g.4933225T= | CA2244625478 | CHRNE,GP1BA | c.621T= (p.Phe207=) c.-888+1117A= (n.-888+1117A=) | |
| 17 | g.4933226T>A | CA397317759 | CHRNE,GP1BA | c.622T>A (p.Phe208Ile) c.-888+1116A>T (n.-888+1116A>T) | |
| 17 | g.4933226T>C | CA397317760 | CHRNE,GP1BA | c.622T>C (p.Phe208Leu) c.-888+1116A>G (n.-888+1116A>G) | |
| 17 | g.4933226T>G | CA397317761 | CHRNE,GP1BA | c.622T>G (p.Phe208Val) c.-888+1116A>C (n.-888+1116A>C) | |
| 17 | g.4933227T>A | CA397317762 | CHRNE,GP1BA | c.623T>A (p.Phe208Tyr) c.-888+1115A>T (n.-888+1115A>T) | |
| 17 | g.4933227T>C | CA397317763 | CHRNE,GP1BA | c.623T>C (p.Phe208Ser) c.-888+1115A>G (n.-888+1115A>G) | dbSNP |
| 17 | g.4933227T>G | CA397317766 | CHRNE,GP1BA | c.623T>G (p.Phe208Cys) c.-888+1115A>C (n.-888+1115A>C) | |
| 17 | g.4933228T>A | CA397317768 | CHRNE,GP1BA | c.624T>A (p.Phe208Leu) c.-888+1114A>T (n.-888+1114A>T) | |
| 17 | g.4933228T>C | CA497677179 | CHRNE,GP1BA | c.624T>C (p.Phe208=) c.-888+1114A>G (n.-888+1114A>G) | |
| 17 | g.4933228T>G | CA397317769 | CHRNE,GP1BA | c.624T>G (p.Phe208Leu) c.-888+1114A>C (n.-888+1114A>C) | |
| 17 | g.4933229G>A | CA397317772 | CHRNE,GP1BA | c.625G>A (p.Gly209Arg) c.-888+1113C>T (n.-888+1113C>T) | |
| 17 | g.4933229G>C | CA397317775 | CHRNE,GP1BA | c.625G>C (p.Gly209Arg) c.-888+1113C>G (n.-888+1113C>G) | |
| 17 | g.4933229G>T | CA397317778 | CHRNE,GP1BA | c.625G>T (p.Gly209Trp) c.-888+1113C>A (n.-888+1113C>A) | |
| 17 | g.4933230G>A | CA397317780 | CHRNE,GP1BA | c.626G>A (p.Gly209Glu) c.-888+1112C>T (n.-888+1112C>T) | |
| 17 | g.4933230G>C | CA397317783 | CHRNE,GP1BA | c.626G>C (p.Gly209Ala) c.-888+1112C>G (n.-888+1112C>G) | |
| 17 | g.4933230G>T | CA397317782 | CHRNE,GP1BA | c.626G>T (p.Gly209Val) c.-888+1112C>A (n.-888+1112C>A) | |
| 17 | g.4933233_4933274del | CA2635578786 | CHRNE,GP1BA | c.629_670del (p.Ser210_Trp223del) c.-888+1071_-888+1112del (n.-888+1071_-888+1112del) | gnomAD v4 |
| 17 | g.4933231G>A | CA497677180 | CHRNE,GP1BA | c.627G>A (p.Gly209=) c.-888+1111C>T (n.-888+1111C>T) | gnomAD v4 |
| 17 | g.4933231G>C | CA497677181 | CHRNE,GP1BA | c.627G>C (p.Gly209=) c.-888+1111C>G (n.-888+1111C>G) | |
| 17 | g.4933231G>T | CA497677182 | CHRNE,GP1BA | c.627G>T (p.Gly209=) c.-888+1111C>A (n.-888+1111C>A) | |
| 17 | g.4933232T>A | CA8314808 | CHRNE,GP1BA | c.628T>A (p.Ser210Thr) c.-888+1110A>T (n.-888+1110A>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933232T>C | CA397317784 | CHRNE,GP1BA | c.628T>C (p.Ser210Pro) c.-888+1110A>G (n.-888+1110A>G) | |
| 17 | g.4933232T>G | CA397317785 | CHRNE,GP1BA | c.628T>G (p.Ser210Ala) c.-888+1110A>C (n.-888+1110A>C) | |
| 17 | g.4933232T= | CA2244625479 | CHRNE,GP1BA | c.628T= (p.Ser210=) c.-888+1110A= (n.-888+1110A=) | |
| 17 | g.4933233C>A | CA287216343 | CHRNE,GP1BA | c.629C>A (p.Ser210Tyr) c.-888+1109G>T (n.-888+1109G>T) | dbSNP |
| 17 | g.4933233C= | CA2244625480 | CHRNE,GP1BA | c.629C= (p.Ser210=) c.-888+1109G= (n.-888+1109G=) | |
| 17 | g.4933233C>G | CA397317787 | CHRNE,GP1BA | c.629C>G (p.Ser210Cys) c.-888+1109G>C (n.-888+1109G>C) | |
| 17 | g.4933233C>T | CA397317789 | CHRNE,GP1BA | c.629C>T (p.Ser210Phe) c.-888+1109G>A (n.-888+1109G>A) | gnomAD v4 |
| 17 | g.4933234C>A | CA497677183 | CHRNE,GP1BA | c.630C>A (p.Ser210=) c.-888+1108G>T (n.-888+1108G>T) | |
| 17 | g.4933234C>G | CA497677184 | CHRNE,GP1BA | c.630C>G (p.Ser210=) c.-888+1108G>C (n.-888+1108G>C) | |
| 17 | g.4933234C>T | CA497677185 | CHRNE,GP1BA | c.630C>T (p.Ser210=) c.-888+1108G>A (n.-888+1108G>A) | |
| 17 | g.4933235C>A | CA397317791 | CHRNE,GP1BA | c.631C>A (p.His211Asn) c.-888+1107G>T (n.-888+1107G>T) | |
| 17 | g.4933235C>G | CA397317792 | CHRNE,GP1BA | c.631C>G (p.His211Asp) c.-888+1107G>C (n.-888+1107G>C) | |
| 17 | g.4933235C>T | CA397317794 | CHRNE,GP1BA | c.631C>T (p.His211Tyr) c.-888+1107G>A (n.-888+1107G>A) | dbSNP |
| 17 | g.4933236A>C | CA397317798 | CHRNE,GP1BA | c.632A>C (p.His211Pro) c.-888+1106T>G (n.-888+1106T>G) | |
| 17 | g.4933236A>G | CA397317800 | CHRNE,GP1BA | c.632A>G (p.His211Arg) c.-888+1106T>C (n.-888+1106T>C) | |
| 17 | g.4933236A>T | CA397317803 | CHRNE,GP1BA | c.632A>T (p.His211Leu) c.-888+1106T>A (n.-888+1106T>A) | |
| 17 | g.4933236_4933239delinsACCT | CA2244625481 | CHRNE,GP1BA | c.632_635delinsACCT (p.His211=) c.-888+1103_-888+1106delinsAGGT (n.-888+1103_-888+1106delinsAGGT) | |
| 17 | g.4933237C>A | CA397317805 | CHRNE,GP1BA | c.633C>A (p.His211Gln) c.-888+1105G>T (n.-888+1105G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933237C= | CA2244625482 | CHRNE,GP1BA | c.633C= (p.His211=) c.-888+1105G= (n.-888+1105G=) | |
| 17 | g.4933237C>G | CA397317807 | CHRNE,GP1BA | c.633C>G (p.His211Gln) c.-888+1105G>C (n.-888+1105G>C) | |
| 17 | g.4933237C>T | CA497677186 | CHRNE,GP1BA | c.633C>T (p.His211=) c.-888+1105G>A (n.-888+1105G>A) | dbSNP gnomAD v4 |
| 17 | g.4933240_4933242dup | CA8314809 | CHRNE,GP1BA | c.636_638dup (p.Leu213_Pro214insLeu) c.-888+1103_-888+1105dup (n.-888+1103_-888+1105dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933240_4933242del | CA980971634 | CHRNE,GP1BA | c.636_638del (p.Leu213del) c.-888+1103_-888+1105del (n.-888+1103_-888+1105del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933238C>A | CA397317812 | CHRNE,GP1BA | c.634C>A (p.Leu212Ile) c.-888+1104G>T (n.-888+1104G>T) | gnomAD v4 |
| 17 | g.4933238C= | CA2244625483 | CHRNE,GP1BA | c.634C= (p.Leu212=) c.-888+1104G= (n.-888+1104G=) | |
| 17 | g.4933238C>G | CA397317814 | CHRNE,GP1BA | c.634C>G (p.Leu212Val) c.-888+1104G>C (n.-888+1104G>C) | dbSNP gnomAD v2 |
| 17 | g.4933238C>T | CA287216355 | CHRNE,GP1BA | c.634C>T (p.Leu212Phe) c.-888+1104G>A (n.-888+1104G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933239T>A | CA397317819 | CHRNE,GP1BA | c.635T>A (p.Leu212His) c.-888+1103A>T (n.-888+1103A>T) | |
| 17 | g.4933239T>C | CA397317821 | CHRNE,GP1BA | c.635T>C (p.Leu212Pro) c.-888+1103A>G (n.-888+1103A>G) | |
| 17 | g.4933239T>G | CA397317822 | CHRNE,GP1BA | c.635T>G (p.Leu212Arg) c.-888+1103A>C (n.-888+1103A>C) | dbSNP gnomAD v4 |
| 17 | g.4933239T= | CA2244625484 | CHRNE,GP1BA | c.635T= (p.Leu212=) c.-888+1103A= (n.-888+1103A=) | |
| 17 | g.4933240C>A | CA497677187 | CHRNE,GP1BA | c.636C>A (p.Leu212=) c.-888+1102G>T (n.-888+1102G>T) | |
| 17 | g.4933240C>G | CA497677188 | CHRNE,GP1BA | c.636C>G (p.Leu212=) c.-888+1102G>C (n.-888+1102G>C) | |
| 17 | g.4933240C>T | CA497677189 | CHRNE,GP1BA | c.636C>T (p.Leu212=) c.-888+1102G>A (n.-888+1102G>A) | |
| 17 | g.4933241C>A | CA397317823 | CHRNE,GP1BA | c.637C>A (p.Leu213Met) c.-888+1101G>T (n.-888+1101G>T) | |
| 17 | g.4933241C= | CA2244625485 | CHRNE,GP1BA | c.637C= (p.Leu213=) c.-888+1101G= (n.-888+1101G=) | |
| 17 | g.4933241C>G | CA287216363 | CHRNE,GP1BA | c.637C>G (p.Leu213Val) c.-888+1101G>C (n.-888+1101G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933241C>T | CA497677190 | CHRNE,GP1BA | c.637C>T (p.Leu213=) c.-888+1101G>A (n.-888+1101G>A) | |
| 17 | g.4933242T>A | CA397317825 | CHRNE,GP1BA | c.638T>A (p.Leu213Gln) c.-888+1100A>T (n.-888+1100A>T) | |
| 17 | g.4933242T>C | CA397317826 | CHRNE,GP1BA | c.638T>C (p.Leu213Pro) c.-888+1100A>G (n.-888+1100A>G) | ClinVar |
| 17 | g.4933242T>G | CA397317828 | CHRNE,GP1BA | c.638T>G (p.Leu213Arg) c.-888+1100A>C (n.-888+1100A>C) |