UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.40354431G>A | CA356708105 | CHRNA9 | c.1351G>A (p.Val451Met) | |
| 4 | g.40354431G>C | CA356708108 | CHRNA9 | c.1351G>C (p.Val451Leu) | |
| 4 | g.40354431G>T | CA356708124 | CHRNA9 | c.1351G>T (p.Val451Leu) | |
| 4 | g.40354432T>A | CA356708136 | CHRNA9 | c.1352T>A (p.Val451Glu) | |
| 4 | g.40354432T>C | CA356708132 | CHRNA9 | c.1352T>C (p.Val451Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.40354432T>G | CA356708128 | CHRNA9 | c.1352T>G (p.Val451Gly) | gnomAD v4 |
| 4 | g.40354432T= | CA1452584188 | CHRNA9 | c.1352T= (p.Val451=) | |
| 4 | g.40354433G>A | CA438955552 | CHRNA9 | c.1353G>A (p.Val451=) | gnomAD v4 |
| 4 | g.40354433G>C | CA438955554 | CHRNA9 | c.1353G>C (p.Val451=) | |
| 4 | g.40354433G>T | CA438955553 | CHRNA9 | c.1353G>T (p.Val451=) | |
| 4 | g.40354434G>A | CA356708139 | CHRNA9 | c.1354G>A (p.Ala452Thr) | |
| 4 | g.40354434G>C | CA356708142 | CHRNA9 | c.1354G>C (p.Ala452Pro) | |
| 4 | g.40354434G>T | CA356708145 | CHRNA9 | c.1354G>T (p.Ala452Ser) | |
| 4 | g.40354435C>A | CA356708148 | CHRNA9 | c.1355C>A (p.Ala452Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.40354435C= | CA1452584465 | CHRNA9 | c.1355C= (p.Ala452=) | |
| 4 | g.40354435C>G | CA356708150 | CHRNA9 | c.1355C>G (p.Ala452Gly) | |
| 4 | g.40354435C>T | CA2898187 | CHRNA9 | c.1355C>T (p.Ala452Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354436G>A | CA2898188 | CHRNA9 | c.1356G>A (p.Ala452=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354436G>C | CA438955561 | CHRNA9 | c.1356G>C (p.Ala452=) | |
| 4 | g.40354436G= | CA1452584479 | CHRNA9 | c.1356G= (p.Ala452=) | |
| 4 | g.40354436G>T | CA438955562 | CHRNA9 | c.1356G>T (p.Ala452=) | dbSNP |
| 4 | g.40354436_40354437delinsGA | CA1452584476 | CHRNA9 | c.1356_1357delinsGA (p.Ala452=) | |
| 4 | g.40354437A= | CA1452584482 | CHRNA9 | c.1357A= (p.Lys453=) | |
| 4 | g.40354437A>C | CA2898189 | CHRNA9 | c.1357A>C (p.Lys453Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354437A>G | CA356708157 | CHRNA9 | c.1357A>G (p.Lys453Glu) | |
| 4 | g.40354437A>T | CA356708159 | CHRNA9 | c.1357A>T (p.Lys453Ter) | |
| 4 | g.40354439del | CA794768364 | CHRNA9 | c.1359del (p.Val454SerfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.40354438A>C | CA356708163 | CHRNA9 | c.1358A>C (p.Lys453Thr) | |
| 4 | g.40354438A>G | CA356708167 | CHRNA9 | c.1358A>G (p.Lys453Arg) | |
| 4 | g.40354438A>T | CA356708174 | CHRNA9 | c.1358A>T (p.Lys453Ile) | |
| 4 | g.40354439A>C | CA356708182 | CHRNA9 | c.1359A>C (p.Lys453Asn) | |
| 4 | g.40354439A>G | CA438955568 | CHRNA9 | c.1359A>G (p.Lys453=) | |
| 4 | g.40354439A>T | CA356708177 | CHRNA9 | c.1359A>T (p.Lys453Asn) | |
| 4 | g.40354440G>A | CA356708185 | CHRNA9 | c.1360G>A (p.Val454Ile) | gnomAD v4 |
| 4 | g.40354440G>C | CA356708187 | CHRNA9 | c.1360G>C (p.Val454Leu) | |
| 4 | g.40354440G>T | CA356708189 | CHRNA9 | c.1360G>T (p.Val454Phe) | |
| 4 | g.40354441T>A | CA356708194 | CHRNA9 | c.1361T>A (p.Val454Asp) | |
| 4 | g.40354441T>C | CA2898190 | CHRNA9 | c.1361T>C (p.Val454Ala) | dbSNP ExAC gnomAD v2 |
| 4 | g.40354441T>G | CA356708197 | CHRNA9 | c.1361T>G (p.Val454Gly) | |
| 4 | g.40354441T= | CA1452584485 | CHRNA9 | c.1361T= (p.Val454=) | |
| 4 | g.40354442C>A | CA438955570 | CHRNA9 | c.1362C>A (p.Val454=) | |
| 4 | g.40354442C>G | CA438955572 | CHRNA9 | c.1362C>G (p.Val454=) | |
| 4 | g.40354442C>T | CA438955573 | CHRNA9 | c.1362C>T (p.Val454=) | |
| 4 | g.40354443A>C | CA356708201 | CHRNA9 | c.1363A>C (p.Ile455Leu) | gnomAD v4 |
| 4 | g.40354443A>G | CA356708205 | CHRNA9 | c.1363A>G (p.Ile455Val) | |
| 4 | g.40354443A>T | CA356708207 | CHRNA9 | c.1363A>T (p.Ile455Leu) | |
| 4 | g.40354444T>A | CA356708212 | CHRNA9 | c.1364T>A (p.Ile455Lys) | |
| 4 | g.40354444T>C | CA356708216 | CHRNA9 | c.1364T>C (p.Ile455Thr) | gnomAD v4 |
| 4 | g.40354444T>G | CA356708220 | CHRNA9 | c.1364T>G (p.Ile455Arg) | |
| 4 | g.40354445A>C | CA438955575 | CHRNA9 | c.1365A>C (p.Ile455=) | |
| 4 | g.40354445A>G | CA356708232 | CHRNA9 | c.1365A>G (p.Ile455Met) | |
| 4 | g.40354445A>T | CA438955576 | CHRNA9 | c.1365A>T (p.Ile455=) | |
| 4 | g.40354446G>A | CA356708246 | CHRNA9 | c.1366G>A (p.Asp456Asn) | |
| 4 | g.40354446G>C | CA356708241 | CHRNA9 | c.1366G>C (p.Asp456His) | |
| 4 | g.40354446G>T | CA356708237 | CHRNA9 | c.1366G>T (p.Asp456Tyr) | gnomAD v4 |
| 4 | g.40354447A>C | CA356708258 | CHRNA9 | c.1367A>C (p.Asp456Ala) | |
| 4 | g.40354447A>G | CA356708250 | CHRNA9 | c.1367A>G (p.Asp456Gly) | gnomAD v4 |
| 4 | g.40354447A>T | CA356708260 | CHRNA9 | c.1367A>T (p.Asp456Val) | |
| 4 | g.40354447_40354448delinsAC | CA1452584487 | CHRNA9 | c.1367_1368delinsAC (p.Asp456=) | |
| 4 | g.40354448C>A | CA356708262 | CHRNA9 | c.1368C>A (p.Asp456Glu) | |
| 4 | g.40354448C>G | CA356708265 | CHRNA9 | c.1368C>G (p.Asp456Glu) | COSMIC |
| 4 | g.40354448C>T | CA438955580 | CHRNA9 | c.1368C>T (p.Asp456=) | |
| 4 | g.40354449del | CA1452584492 | CHRNA9 | c.1369del (p.Arg457AspfsTer13) | dbSNP |
| 4 | g.40354449C>A | CA438955581 | CHRNA9 | c.1369C>A (p.Arg457=) | |
| 4 | g.40354449C= | CA1452584498 | CHRNA9 | c.1369C= (p.Arg457=) | |
| 4 | g.40354449C>G | CA356708270 | CHRNA9 | c.1369C>G (p.Arg457Gly) | |
| 4 | g.40354449C>T | CA2898191 | CHRNA9 | c.1369C>T (p.Arg457Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354450G>A | CA2898192 | CHRNA9 | c.1370G>A (p.Arg457Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354450G>C | CA356708274 | CHRNA9 | c.1370G>C (p.Arg457Pro) | |
| 4 | g.40354450G= | CA1452584501 | CHRNA9 | c.1370G= (p.Arg457=) | |
| 4 | g.40354450G>T | CA356708280 | CHRNA9 | c.1370G>T (p.Arg457Leu) | |
| 4 | g.40354451A>C | CA438955584 | CHRNA9 | c.1371A>C (p.Arg457=) | |
| 4 | g.40354451A>G | CA438955585 | CHRNA9 | c.1371A>G (p.Arg457=) | |
| 4 | g.40354451A>T | CA438955586 | CHRNA9 | c.1371A>T (p.Arg457=) | |
| 4 | g.40354452T>A | CA356708293 | CHRNA9 | c.1372T>A (p.Phe458Ile) | |
| 4 | g.40354452T>C | CA356708296 | CHRNA9 | c.1372T>C (p.Phe458Leu) | |
| 4 | g.40354452T>G | CA356708300 | CHRNA9 | c.1372T>G (p.Phe458Val) | |
| 4 | g.40354453T>A | CA356708303 | CHRNA9 | c.1373T>A (p.Phe458Tyr) | |
| 4 | g.40354453T>C | CA356708306 | CHRNA9 | c.1373T>C (p.Phe458Ser) | |
| 4 | g.40354453T>G | CA356708313 | CHRNA9 | c.1373T>G (p.Phe458Cys) | dbSNP |
| 4 | g.40354453T= | CA1452584505 | CHRNA9 | c.1373T= (p.Phe458=) | |
| 4 | g.40354454C>A | CA356708316 | CHRNA9 | c.1374C>A (p.Phe458Leu) | gnomAD v4 |
| 4 | g.40354454C>G | CA356708320 | CHRNA9 | c.1374C>G (p.Phe458Leu) | gnomAD v4 COSMIC |
| 4 | g.40354454C>T | CA438955593 | CHRNA9 | c.1374C>T (p.Phe458=) | gnomAD v4 |
| 4 | g.40354454dup | CA1452584508 | CHRNA9 | c.1374dup (p.Phe459LeufsTer?) | dbSNP |
| 4 | g.40354455T>A | CA356708326 | CHRNA9 | c.1375T>A (p.Phe459Ile) | dbSNP |
| 4 | g.40354455T>C | CA356708330 | CHRNA9 | c.1375T>C (p.Phe459Leu) | |
| 4 | g.40354455T>G | CA356708340 | CHRNA9 | c.1375T>G (p.Phe459Val) | gnomAD v4 |
| 4 | g.40354455T= | CA1452584517 | CHRNA9 | c.1375T= (p.Phe459=) | |
| 4 | g.40354456T>A | CA356708346 | CHRNA9 | c.1376T>A (p.Phe459Tyr) | |
| 4 | g.40354456T>C | CA356708347 | CHRNA9 | c.1376T>C (p.Phe459Ser) | |
| 4 | g.40354456T>G | CA356708351 | CHRNA9 | c.1376T>G (p.Phe459Cys) | gnomAD v4 |
| 4 | g.40354457C>A | CA356708353 | CHRNA9 | c.1377C>A (p.Phe459Leu) | |
| 4 | g.40354457C= | CA1452584526 | CHRNA9 | c.1377C= (p.Phe459=) | |
| 4 | g.40354457C>G | CA356708356 | CHRNA9 | c.1377C>G (p.Phe459Leu) | |
| 4 | g.40354457C>T | CA438955595 | CHRNA9 | c.1377C>T (p.Phe459=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.40354458A>C | CA356708372 | CHRNA9 | c.1378A>C (p.Met460Leu) | gnomAD v4 |
| 4 | g.40354458A>G | CA356708373 | CHRNA9 | c.1378A>G (p.Met460Val) | gnomAD v4 |
| 4 | g.40354458A>T | CA356708377 | CHRNA9 | c.1378A>T (p.Met460Leu) | |
| 4 | g.40354459T>A | CA356708378 | CHRNA9 | c.1379T>A (p.Met460Lys) | |
| 4 | g.40354459T>C | CA356708379 | CHRNA9 | c.1379T>C (p.Met460Thr) | |
| 4 | g.40354459T>G | CA2898193 | CHRNA9 | c.1379T>G (p.Met460Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354459T= | CA1452584533 | CHRNA9 | c.1379T= (p.Met460=) | |
| 4 | g.40354460G>A | CA356708382 | CHRNA9 | c.1380G>A (p.Met460Ile) | gnomAD v4 |
| 4 | g.40354460G>C | CA356708384 | CHRNA9 | c.1380G>C (p.Met460Ile) | |
| 4 | g.40354460G>T | CA356708386 | CHRNA9 | c.1380G>T (p.Met460Ile) | |
| 4 | g.40354461T>A | CA356708388 | CHRNA9 | c.1381T>A (p.Trp461Arg) | |
| 4 | g.40354461T>C | CA356708391 | CHRNA9 | c.1381T>C (p.Trp461Arg) | |
| 4 | g.40354461T>G | CA356708392 | CHRNA9 | c.1381T>G (p.Trp461Gly) | |
| 4 | g.40354462G>A | CA356708393 | CHRNA9 | c.1382G>A (p.Trp461Ter) | |
| 4 | g.40354462G>C | CA356708394 | CHRNA9 | c.1382G>C (p.Trp461Ser) | |
| 4 | g.40354462G>T | CA356708395 | CHRNA9 | c.1382G>T (p.Trp461Leu) | |
| 4 | g.40354463G>A | CA356708397 | CHRNA9 | c.1383G>A (p.Trp461Ter) | COSMIC |
| 4 | g.40354463G>C | CA356708401 | CHRNA9 | c.1383G>C (p.Trp461Cys) | |
| 4 | g.40354463G>T | CA356708403 | CHRNA9 | c.1383G>T (p.Trp461Cys) | |
| 4 | g.40354464A= | CA1452584541 | CHRNA9 | c.1384A= (p.Ile462=) | |
| 4 | g.40354464A>C | CA356708408 | CHRNA9 | c.1384A>C (p.Ile462Leu) | gnomAD v4 |
| 4 | g.40354464A>G | CA356708412 | CHRNA9 | c.1384A>G (p.Ile462Val) | |
| 4 | g.40354464A>T | CA356708407 | CHRNA9 | c.1384A>T (p.Ile462Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354464_40354465delinsAT | CA1452584547 | CHRNA9 | c.1384_1385delinsAT (p.Ile462=) | |
| 4 | g.40354464_40354466del | CA2670423988 | CHRNA9 | c.1384_1386del (p.Ile462del) | gnomAD v4 |
| 4 | g.40354465T>A | CA356708414 | CHRNA9 | c.1385T>A (p.Ile462Asn) | |
| 4 | g.40354465T>C | CA356708417 | CHRNA9 | c.1385T>C (p.Ile462Thr) | gnomAD v4 |
| 4 | g.40354465T>G | CA356708424 | CHRNA9 | c.1385T>G (p.Ile462Ser) | |
| 4 | g.40354471del | CA1452584556 | CHRNA9 | c.1391del (p.Phe464SerfsTer6) | dbSNP |
| 4 | g.40354466T>A | CA438955608 | CHRNA9 | c.1386T>A (p.Ile462=) | |
| 4 | g.40354466T>C | CA438955609 | CHRNA9 | c.1386T>C (p.Ile462=) | |
| 4 | g.40354466T>G | CA356708427 | CHRNA9 | c.1386T>G (p.Ile462Met) | |
| 4 | g.40354467T>A | CA356708430 | CHRNA9 | c.1387T>A (p.Phe463Ile) | |
| 4 | g.40354467T>C | CA356708432 | CHRNA9 | c.1387T>C (p.Phe463Leu) | |
| 4 | g.40354467T>G | CA356708437 | CHRNA9 | c.1387T>G (p.Phe463Val) | |
| 4 | g.40354468T>A | CA356708441 | CHRNA9 | c.1388T>A (p.Phe463Tyr) | |
| 4 | g.40354468T>C | CA356708446 | CHRNA9 | c.1388T>C (p.Phe463Ser) | |
| 4 | g.40354468T>G | CA356708445 | CHRNA9 | c.1388T>G (p.Phe463Cys) | |
| 4 | g.40354469T>A | CA356708451 | CHRNA9 | c.1389T>A (p.Phe463Leu) | |
| 4 | g.40354469T>C | CA438955612 | CHRNA9 | c.1389T>C (p.Phe463=) | |
| 4 | g.40354469T>G | CA356708457 | CHRNA9 | c.1389T>G (p.Phe463Leu) | |
| 4 | g.40354470T>A | CA356708460 | CHRNA9 | c.1390T>A (p.Phe464Ile) | |
| 4 | g.40354470T>C | CA356708461 | CHRNA9 | c.1390T>C (p.Phe464Leu) | |
| 4 | g.40354470T>G | CA356708469 | CHRNA9 | c.1390T>G (p.Phe464Val) | |
| 4 | g.40354471T>A | CA356708474 | CHRNA9 | c.1391T>A (p.Phe464Tyr) | |
| 4 | g.40354471T>C | CA356708476 | CHRNA9 | c.1391T>C (p.Phe464Ser) | |
| 4 | g.40354471T>G | CA356708472 | CHRNA9 | c.1391T>G (p.Phe464Cys) | |
| 4 | g.40354471_40354472del | CA2761148023 | CHRNA9 | c.1391_1392del (p.Phe464TyrfsTer?) | |
| 4 | g.40354472C>A | CA356708481 | CHRNA9 | c.1392C>A (p.Phe464Leu) | |
| 4 | g.40354472C>G | CA356708484 | CHRNA9 | c.1392C>G (p.Phe464Leu) | |
| 4 | g.40354472C>T | CA438955620 | CHRNA9 | c.1392C>T (p.Phe464=) | COSMIC |
| 4 | g.40354473A>C | CA356708486 | CHRNA9 | c.1393A>C (p.Ile465Leu) | |
| 4 | g.40354473A>G | CA356708491 | CHRNA9 | c.1393A>G (p.Ile465Val) | gnomAD v4 |
| 4 | g.40354473A>T | CA356708489 | CHRNA9 | c.1393A>T (p.Ile465Phe) | |
| 4 | g.40354474T>A | CA356708492 | CHRNA9 | c.1394T>A (p.Ile465Asn) | |
| 4 | g.40354474T>C | CA356708493 | CHRNA9 | c.1394T>C (p.Ile465Thr) | |
| 4 | g.40354474T>G | CA356708494 | CHRNA9 | c.1394T>G (p.Ile465Ser) | |
| 4 | g.40354475del | CA2761148024 | CHRNA9 | c.1395del (p.Met466TrpfsTer4) | |
| 4 | g.40354475T>A | CA438955622 | CHRNA9 | c.1395T>A (p.Ile465=) | |
| 4 | g.40354475T>C | CA438955625 | CHRNA9 | c.1395T>C (p.Ile465=) | |
| 4 | g.40354475T>G | CA356708495 | CHRNA9 | c.1395T>G (p.Ile465Met) | |
| 4 | g.40354476A= | CA1452584569 | CHRNA9 | c.1396A= (p.Met466=) | |
| 4 | g.40354476A>C | CA356708496 | CHRNA9 | c.1396A>C (p.Met466Leu) | |
| 4 | g.40354476A>G | CA356708498 | CHRNA9 | c.1396A>G (p.Met466Val) | dbSNP gnomAD v4 |
| 4 | g.40354476A>T | CA356708500 | CHRNA9 | c.1396A>T (p.Met466Leu) | dbSNP gnomAD v4 |
| 4 | g.40354477T>A | CA356708504 | CHRNA9 | c.1397T>A (p.Met466Lys) | |
| 4 | g.40354477T>C | CA356708506 | CHRNA9 | c.1397T>C (p.Met466Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354477T>G | CA356708509 | CHRNA9 | c.1397T>G (p.Met466Arg) | |
| 4 | g.40354477T= | CA1452584578 | CHRNA9 | c.1397T= (p.Met466=) | |
| 4 | g.40354478G>A | CA356708515 | CHRNA9 | c.1398G>A (p.Met466Ile) | |
| 4 | g.40354478G>C | CA356708514 | CHRNA9 | c.1398G>C (p.Met466Ile) | |
| 4 | g.40354478G>T | CA356708513 | CHRNA9 | c.1398G>T (p.Met466Ile) | |
| 4 | g.40354479G>A | CA356708516 | CHRNA9 | c.1399G>A (p.Val467Met) | |
| 4 | g.40354479G>C | CA356708517 | CHRNA9 | c.1399G>C (p.Val467Leu) | |
| 4 | g.40354479G= | CA1452584585 | CHRNA9 | c.1399G= (p.Val467=) | |
| 4 | g.40354479G>T | CA356708518 | CHRNA9 | c.1399G>T (p.Val467Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354480T>A | CA356708519 | CHRNA9 | c.1400T>A (p.Val467Glu) | |
| 4 | g.40354480T>C | CA2898194 | CHRNA9 | c.1400T>C (p.Val467Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354480T>G | CA356708523 | CHRNA9 | c.1400T>G (p.Val467Gly) | |
| 4 | g.40354480T= | CA1452584588 | CHRNA9 | c.1400T= (p.Val467=) | |
| 4 | g.40354481G>A | CA438955632 | CHRNA9 | c.1401G>A (p.Val467=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.40354481G>C | CA438955634 | CHRNA9 | c.1401G>C (p.Val467=) | gnomAD v4 |
| 4 | g.40354481G= | CA1452584597 | CHRNA9 | c.1401G= (p.Val467=) | |
| 4 | g.40354481G>T | CA438955635 | CHRNA9 | c.1401G>T (p.Val467=) | |
| 4 | g.40354481_40354482delinsGT | CA1452584594 | CHRNA9 | c.1401_1402delinsGT (p.Val467=) | |
| 4 | g.40354482T>A | CA356708529 | CHRNA9 | c.1402T>A (p.Phe468Ile) | |
| 4 | g.40354482T>C | CA356708532 | CHRNA9 | c.1402T>C (p.Phe468Leu) | |
| 4 | g.40354482T>G | CA356708536 | CHRNA9 | c.1402T>G (p.Phe468Val) | |
| 4 | g.40354484del | CA1452584600 | CHRNA9 | c.1404del (p.Phe468LeufsTer2) | dbSNP |
| 4 | g.40354483T>A | CA356708539 | CHRNA9 | c.1403T>A (p.Phe468Tyr) | |
| 4 | g.40354483T>C | CA356708544 | CHRNA9 | c.1403T>C (p.Phe468Ser) | |
| 4 | g.40354483T>G | CA356708547 | CHRNA9 | c.1403T>G (p.Phe468Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.40354483T= | CA1452584606 | CHRNA9 | c.1403T= (p.Phe468=) | |
| 4 | g.40354484T>A | CA356708552 | CHRNA9 | c.1404T>A (p.Phe468Leu) | |
| 4 | g.40354484T>C | CA438955638 | CHRNA9 | c.1404T>C (p.Phe468=) | |
| 4 | g.40354484T>G | CA356708550 | CHRNA9 | c.1404T>G (p.Phe468Leu) | |
| 4 | g.40354485G>A | CA356708555 | CHRNA9 | c.1405G>A (p.Val469Met) | gnomAD v4 |
| 4 | g.40354485G>C | CA356708556 | CHRNA9 | c.1405G>C (p.Val469Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.40354485G= | CA1452584607 | CHRNA9 | c.1405G= (p.Val469=) | |
| 4 | g.40354485G>T | CA356708557 | CHRNA9 | c.1405G>T (p.Val469Leu) | dbSNP |
| 4 | g.40354486T>A | CA356708558 | CHRNA9 | c.1406T>A (p.Val469Glu) | |
| 4 | g.40354486T>C | CA356708559 | CHRNA9 | c.1406T>C (p.Val469Ala) | |
| 4 | g.40354486T>G | CA356708561 | CHRNA9 | c.1406T>G (p.Val469Gly) | dbSNP |
| 4 | g.40354486T= | CA1452584610 | CHRNA9 | c.1406T= (p.Val469=) | |
| 4 | g.40354486_40354487insTCCTG | CA2761148026 | CHRNA9 | c.1406_1407insTCCTG (p.Met470ProfsTer3) | |
| 4 | g.40354487G>A | CA438955642 | CHRNA9 | c.1407G>A (p.Val469=) | |
| 4 | g.40354487G>C | CA438955645 | CHRNA9 | c.1407G>C (p.Val469=) | |
| 4 | g.40354487G>T | CA438955644 | CHRNA9 | c.1407G>T (p.Val469=) | |
| 4 | g.40354488A= | CA1452584613 | CHRNA9 | c.1408A= (p.Met470=) | |
| 4 | g.40354488A>C | CA356708565 | CHRNA9 | c.1408A>C (p.Met470Leu) | |
| 4 | g.40354488A>G | CA2898195 | CHRNA9 | c.1408A>G (p.Met470Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354488A>T | CA356708568 | CHRNA9 | c.1408A>T (p.Met470Leu) | |
| 4 | g.40354489T>A | CA356708571 | CHRNA9 | c.1409T>A (p.Met470Lys) | |
| 4 | g.40354489T>C | CA356708575 | CHRNA9 | c.1409T>C (p.Met470Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.40354489T>G | CA356708578 | CHRNA9 | c.1409T>G (p.Met470Arg) | |
| 4 | g.40354489T= | CA1452584619 | CHRNA9 | c.1409T= (p.Met470=) | |
| 4 | g.40354490G>A | CA356708584 | CHRNA9 | c.1410G>A (p.Met470Ile) | |
| 4 | g.40354490G>C | CA356708585 | CHRNA9 | c.1410G>C (p.Met470Ile) | |
| 4 | g.40354490G>T | CA356708580 | CHRNA9 | c.1410G>T (p.Met470Ile) | |
| 4 | g.40354490_40354491insCTTTCAGGTT | CA2761148027 | CHRNA9 | c.1410_1411insCTTTCAGGTT (p.Thr471LeufsTer?) | |
| 4 | g.40354491A>C | CA356708588 | CHRNA9 | c.1411A>C (p.Thr471Pro) | |
| 4 | g.40354491A>G | CA356708591 | CHRNA9 | c.1411A>G (p.Thr471Ala) | |
| 4 | g.40354491A>T | CA356708596 | CHRNA9 | c.1411A>T (p.Thr471Ser) | |
| 4 | g.40354492C>A | CA356708599 | CHRNA9 | c.1412C>A (p.Thr471Asn) | |
| 4 | g.40354492C= | CA1452584623 | CHRNA9 | c.1412C= (p.Thr471=) | |
| 4 | g.40354492C>G | CA95758483 | CHRNA9 | c.1412C>G (p.Thr471Ser) | dbSNP gnomAD v4 |
| 4 | g.40354492C>T | CA356708611 | CHRNA9 | c.1412C>T (p.Thr471Ile) | |
| 4 | g.40354493T>A | CA438955650 | CHRNA9 | c.1413T>A (p.Thr471=) | |
| 4 | g.40354493T>C | CA2898196 | CHRNA9 | c.1413T>C (p.Thr471=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354493T>G | CA438955654 | CHRNA9 | c.1413T>G (p.Thr471=) | |
| 4 | g.40354493T= | CA1452584626 | CHRNA9 | c.1413T= (p.Thr471=) | |
| 4 | g.40354494A= | CA1452584629 | CHRNA9 | c.1414A= (p.Ile472=) | |
| 4 | g.40354494A>C | CA356708623 | CHRNA9 | c.1414A>C (p.Ile472Leu) | |
| 4 | g.40354494A>G | CA356708632 | CHRNA9 | c.1414A>G (p.Ile472Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354494A>T | CA356708635 | CHRNA9 | c.1414A>T (p.Ile472Phe) | |
| 4 | g.40354495T>A | CA356708637 | CHRNA9 | c.1415T>A (p.Ile472Asn) | |
| 4 | g.40354495T>C | CA2898197 | CHRNA9 | c.1415T>C (p.Ile472Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354495T>G | CA356708642 | CHRNA9 | c.1415T>G (p.Ile472Ser) | |
| 4 | g.40354495T= | CA1452584636 | CHRNA9 | c.1415T= (p.Ile472=) | |
| 4 | g.40354496T>A | CA438955657 | CHRNA9 | c.1416T>A (p.Ile472=) | |
| 4 | g.40354496T>C | CA438955658 | CHRNA9 | c.1416T>C (p.Ile472=) | |
| 4 | g.40354496T>G | CA2898198 | CHRNA9 | c.1416T>G (p.Ile472Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354496T= | CA1452584644 | CHRNA9 | c.1416T= (p.Ile472=) | |
| 4 | g.40354497T>A | CA356708664 | CHRNA9 | c.1417T>A (p.Leu473Met) | |
| 4 | g.40354497T>C | CA438955660 | CHRNA9 | c.1417T>C (p.Leu473=) | |
| 4 | g.40354497T>G | CA356708667 | CHRNA9 | c.1417T>G (p.Leu473Val) | |
| 4 | g.40354498T>A | CA356708670 | CHRNA9 | c.1418T>A (p.Leu473Ter) | |
| 4 | g.40354498T>C | CA356708673 | CHRNA9 | c.1418T>C (p.Leu473Ser) | |
| 4 | g.40354498T>G | CA2898199 | CHRNA9 | c.1418T>G (p.Leu473Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354498T= | CA1452584656 | CHRNA9 | c.1418T= (p.Leu473=) | |
| 4 | g.40354499G>A | CA95758508 | CHRNA9 | c.1419G>A (p.Leu473=) | dbSNP gnomAD v4 |
| 4 | g.40354499G>C | CA2898200 | CHRNA9 | c.1419G>C (p.Leu473Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354499G= | CA1452584662 | CHRNA9 | c.1419G= (p.Leu473=) | |
| 4 | g.40354499G>T | CA356708676 | CHRNA9 | c.1419G>T (p.Leu473Phe) | |
| 4 | g.40354500A>C | CA356708679 | CHRNA9 | c.1420A>C (p.Ile474Leu) | |
| 4 | g.40354500A>G | CA356708691 | CHRNA9 | c.1420A>G (p.Ile474Val) | gnomAD v4 |
| 4 | g.40354500A>T | CA356708693 | CHRNA9 | c.1420A>T (p.Ile474Phe) | |
| 4 | g.40354501T>A | CA356708701 | CHRNA9 | c.1421T>A (p.Ile474Asn) | |
| 4 | g.40354501T>C | CA356708707 | CHRNA9 | c.1421T>C (p.Ile474Thr) | |
| 4 | g.40354501T>G | CA356708710 | CHRNA9 | c.1421T>G (p.Ile474Ser) | |
| 4 | g.40354502C>A | CA438955670 | CHRNA9 | c.1422C>A (p.Ile474=) | |
| 4 | g.40354502C>G | CA356708713 | CHRNA9 | c.1422C>G (p.Ile474Met) | |
| 4 | g.40354502C>T | CA438955671 | CHRNA9 | c.1422C>T (p.Ile474=) | |
| 4 | g.40354503A= | CA1452584666 | CHRNA9 | c.1423A= (p.Ile475=) | |
| 4 | g.40354503A>C | CA356708714 | CHRNA9 | c.1423A>C (p.Ile475Leu) | |
| 4 | g.40354503A>G | CA356708715 | CHRNA9 | c.1423A>G (p.Ile475Val) | |
| 4 | g.40354503A>T | CA2898201 | CHRNA9 | c.1423A>T (p.Ile475Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354504T>A | CA356708720 | CHRNA9 | c.1424T>A (p.Ile475Lys) | |
| 4 | g.40354504T>C | CA2898202 | CHRNA9 | c.1424T>C (p.Ile475Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354504T>G | CA356708717 | CHRNA9 | c.1424T>G (p.Ile475Arg) | |
| 4 | g.40354504T= | CA1452584670 | CHRNA9 | c.1424T= (p.Ile475=) | |
| 4 | g.40354505A>C | CA438955676 | CHRNA9 | c.1425A>C (p.Ile475=) | gnomAD v4 |
| 4 | g.40354505A>G | CA356708721 | CHRNA9 | c.1425A>G (p.Ile475Met) | |
| 4 | g.40354505A>T | CA438955677 | CHRNA9 | c.1425A>T (p.Ile475=) | |
| 4 | g.40354506G>A | CA356708722 | CHRNA9 | c.1426G>A (p.Ala476Thr) | |
| 4 | g.40354506G>C | CA356708723 | CHRNA9 | c.1426G>C (p.Ala476Pro) | |
| 4 | g.40354506G>T | CA356708724 | CHRNA9 | c.1426G>T (p.Ala476Ser) | |
| 4 | g.40354507C>A | CA356708726 | CHRNA9 | c.1427C>A (p.Ala476Glu) | gnomAD v4 |
| 4 | g.40354507C>G | CA356708729 | CHRNA9 | c.1427C>G (p.Ala476Gly) | |
| 4 | g.40354507C>T | CA356708736 | CHRNA9 | c.1427C>T (p.Ala476Val) | |
| 4 | g.40354508A>C | CA438955682 | CHRNA9 | c.1428A>C (p.Ala476=) | |
| 4 | g.40354508A>G | CA438955683 | CHRNA9 | c.1428A>G (p.Ala476=) | |
| 4 | g.40354508A>T | CA438955684 | CHRNA9 | c.1428A>T (p.Ala476=) | |
| 4 | g.40354509A>C | CA438955685 | CHRNA9 | c.1429A>C (p.Arg477=) | |
| 4 | g.40354509A>G | CA356708740 | CHRNA9 | c.1429A>G (p.Arg477Gly) | |
| 4 | g.40354509A>T | CA356708746 | CHRNA9 | c.1429A>T (p.Arg477Ter) | |
| 4 | g.40354510G>A | CA356708749 | CHRNA9 | c.1430G>A (p.Arg477Lys) | |
| 4 | g.40354510G>C | CA356708752 | CHRNA9 | c.1430G>C (p.Arg477Thr) | |
| 4 | g.40354510G>T | CA356708756 | CHRNA9 | c.1430G>T (p.Arg477Ile) | |
| 4 | g.40354511A>C | CA356708763 | CHRNA9 | c.1431A>C (p.Arg477Ser) | |
| 4 | g.40354511A>G | CA438955687 | CHRNA9 | c.1431A>G (p.Arg477=) | |
| 4 | g.40354511A>T | CA356708765 | CHRNA9 | c.1431A>T (p.Arg477Ser) | |
| 4 | g.40354512G>A | CA356708767 | CHRNA9 | c.1432G>A (p.Ala478Thr) | gnomAD v4 |
| 4 | g.40354512G>C | CA356708768 | CHRNA9 | c.1432G>C (p.Ala478Pro) | |
| 4 | g.40354512G>T | CA356708769 | CHRNA9 | c.1432G>T (p.Ala478Ser) | |
| 4 | g.40354513C>A | CA356708770 | CHRNA9 | c.1433C>A (p.Ala478Glu) | |
| 4 | g.40354513C= | CA1452584672 | CHRNA9 | c.1433C= (p.Ala478=) | |
| 4 | g.40354513C>G | CA356708772 | CHRNA9 | c.1433C>G (p.Ala478Gly) | |
| 4 | g.40354513C>T | CA2898203 | CHRNA9 | c.1433C>T (p.Ala478Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354514G>A | CA2898204 | CHRNA9 | c.1434G>A (p.Ala478=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354514G>C | CA438955691 | CHRNA9 | c.1434G>C (p.Ala478=) | |
| 4 | g.40354514G= | CA1452584675 | CHRNA9 | c.1434G= (p.Ala478=) | |
| 4 | g.40354514G>T | CA438955693 | CHRNA9 | c.1434G>T (p.Ala478=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.40354515G>A | CA356708775 | CHRNA9 | c.1435G>A (p.Asp479Asn) | gnomAD v4 |
| 4 | g.40354515G>C | CA356708776 | CHRNA9 | c.1435G>C (p.Asp479His) | |
| 4 | g.40354515G>T | CA356708777 | CHRNA9 | c.1435G>T (p.Asp479Tyr) | |
| 4 | g.40354516A>C | CA356708780 | CHRNA9 | c.1436A>C (p.Asp479Ala) | |
| 4 | g.40354516A>G | CA356708799 | CHRNA9 | c.1436A>G (p.Asp479Gly) | |
| 4 | g.40354516A>T | CA356708802 | CHRNA9 | c.1436A>T (p.Asp479Val) | |
| 4 | g.40354517T>A | CA356708811 | CHRNA9 | c.1437T>A (p.Asp479Glu) | |
| 4 | g.40354517T>C | CA438955694 | CHRNA9 | c.1437T>C (p.Asp479=) | |
| 4 | g.40354517T>G | CA356708808 | CHRNA9 | c.1437T>G (p.Asp479Glu) | |
| 4 | g.40354518T>A | CA356708819 | CHRNA9 | c.1438T>A (p.Ter480Lys) | |
| 4 | g.40354518T>C | CA356708822 | CHRNA9 | c.1438T>C (p.Ter480Gln) | dbSNP |
| 4 | g.40354518T>G | CA356708823 | CHRNA9 | c.1438T>G (p.Ter480Glu) | |
| 4 | g.40354518T= | CA1452584680 | CHRNA9 | c.1438T= (p.Ter480=) | |
| 4 | g.40354519A>C | CA356708824 | CHRNA9 | c.1439A>C (p.Ter480Ser) | |
| 4 | g.40354519A>G | CA356708825 | CHRNA9 | c.1439A>G (p.Ter480Trp) | |
| 4 | g.40354519A>T | CA356708826 | CHRNA9 | c.1439A>T (p.Ter480Leu) | |
| 4 | g.40354520G>A | CA438955697 | CHRNA9 | c.1440G>A (p.Ter480=) | |
| 4 | g.40354520G>C | CA356708827 | CHRNA9 | c.1440G>C (p.Ter480Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.40354520G= | CA1452584687 | CHRNA9 | c.1440G= (p.Ter480=) | |
| 4 | g.40354520G>T | CA356708830 | CHRNA9 | c.1440G>T (p.Ter480Tyr) | COSMIC |
| 4 | g.40354522C>A | CA2670423989 | CHRNA9 | c.*2C>A (n.*2C>A) | gnomAD v4 |
| 4 | g.40354522C= | CA1452584691 | CHRNA9 | c.*2C= (n.*2C=) | |
| 4 | g.40354522C>G | CA95758527 | CHRNA9 | c.*2C>G (n.*2C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.40354524C>A | CA1452584698 | CHRNA9 | c.*4C>A (n.*4C>A) | dbSNP |
| 4 | g.40354524C= | CA1452584696 | CHRNA9 | c.*4C= (n.*4C=) | |
| 4 | g.40354524C>G | CA2670423990 | CHRNA9 | c.*4C>G (n.*4C>G) | gnomAD v4 |
| 4 | g.40354524C>T | CA2670423991 | CHRNA9 | c.*4C>T (n.*4C>T) | gnomAD v4 |
| 4 | g.40354526G>C | CA2898205 | CHRNA9 | c.*6G>C (n.*6G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.40354526G= | CA1452584701 | CHRNA9 | c.*6G= (n.*6G=) | |
| 4 | g.40354526G>T | CA1452584704 | CHRNA9 | c.*6G>T (n.*6G>T) | dbSNP gnomAD v4 |
| 4 | g.40354527A>T | CA2670423992 | CHRNA9 | c.*7A>T (n.*7A>T) | gnomAD v4 |
| 4 | g.40354529A= | CA1452584708 | CHRNA9 | c.*9A= (n.*9A=) | |
| 4 | g.40354529A>G | CA1452584711 | CHRNA9 | c.*9A>G (n.*9A>G) | dbSNP gnomAD v4 |
| 4 | g.40354530T>C | CA550745433 | CHRNA9 | c.*10T>C (n.*10T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.40354530T= | CA1452584715 | CHRNA9 | c.*10T= (n.*10T=) |