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 |
|---|---|---|---|---|---|
| 17 | g.4932825C>A | CA397315209 | CHRNE,GP1BA | c.221C>A (p.Thr74Asn) c.-888+1517G>T (n.-888+1517G>T) | |
| 17 | g.4932825C= | CA2244625318 | CHRNE,GP1BA | c.221C= (p.Thr74=) c.-888+1517G= (n.-888+1517G=) | |
| 17 | g.4932825C>G | CA397315212 | CHRNE,GP1BA | c.221C>G (p.Thr74Ser) c.-888+1517G>C (n.-888+1517G>C) | |
| 17 | g.4932825C>T | CA397315215 | CHRNE,GP1BA | c.221C>T (p.Thr74Ile) c.-888+1517G>A (n.-888+1517G>A) | dbSNP |
| 17 | g.4932826T>A | CA497677429 | CHRNE,GP1BA | c.222T>A (p.Thr74=) c.-888+1516A>T (n.-888+1516A>T) | |
| 17 | g.4932826T>C | CA497677431 | CHRNE,GP1BA | c.222T>C (p.Thr74=) c.-888+1516A>G (n.-888+1516A>G) | |
| 17 | g.4932826T>G | CA497677433 | CHRNE,GP1BA | c.222T>G (p.Thr74=) c.-888+1516A>C (n.-888+1516A>C) | |
| 17 | g.4932827C>A | CA397315219 | CHRNE,GP1BA | c.223C>A (p.Gln75Lys) c.-888+1515G>T (n.-888+1515G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932827C= | CA2244625319 | CHRNE,GP1BA | c.223C= (p.Gln75=) c.-888+1515G= (n.-888+1515G=) | |
| 17 | g.4932827C>G | CA397315227 | CHRNE,GP1BA | c.223C>G (p.Gln75Glu) c.-888+1515G>C (n.-888+1515G>C) | |
| 17 | g.4932827C>T | CA397315229 | CHRNE,GP1BA | c.223C>T (p.Gln75Ter) c.-888+1515G>A (n.-888+1515G>A) | |
| 17 | g.4932828A>C | CA397315236 | CHRNE,GP1BA | c.224A>C (p.Gln75Pro) c.-888+1514T>G (n.-888+1514T>G) | |
| 17 | g.4932828A>G | CA397315233 | CHRNE,GP1BA | c.224A>G (p.Gln75Arg) c.-888+1514T>C (n.-888+1514T>C) | |
| 17 | g.4932828A>T | CA397315231 | CHRNE,GP1BA | c.224A>T (p.Gln75Leu) c.-888+1514T>A (n.-888+1514T>A) | |
| 17 | g.4932829G>A | CA497677440 | CHRNE,GP1BA | c.225G>A (p.Gln75=) c.-888+1513C>T (n.-888+1513C>T) | gnomAD v4 |
| 17 | g.4932829G>C | CA397315239 | CHRNE,GP1BA | c.225G>C (p.Gln75His) c.-888+1513C>G (n.-888+1513C>G) | dbSNP gnomAD v4 |
| 17 | g.4932829G= | CA2244625320 | CHRNE,GP1BA | c.225G= (p.Gln75=) c.-888+1513C= (n.-888+1513C=) | |
| 17 | g.4932829G>T | CA397315242 | CHRNE,GP1BA | c.225G>T (p.Gln75His) c.-888+1513C>A (n.-888+1513C>A) | |
| 17 | g.4932830C>A | CA397315245 | CHRNE,GP1BA | c.226C>A (p.Leu76Met) c.-888+1512G>T (n.-888+1512G>T) | gnomAD v4 |
| 17 | g.4932830C>G | CA397315248 | CHRNE,GP1BA | c.226C>G (p.Leu76Val) c.-888+1512G>C (n.-888+1512G>C) | |
| 17 | g.4932830C>T | CA497677443 | CHRNE,GP1BA | c.226C>T (p.Leu76=) c.-888+1512G>A (n.-888+1512G>A) | |
| 17 | g.4932831T>A | CA397315251 | CHRNE,GP1BA | c.227T>A (p.Leu76Gln) c.-888+1511A>T (n.-888+1511A>T) | |
| 17 | g.4932831T>C | CA397315254 | CHRNE,GP1BA | c.227T>C (p.Leu76Pro) c.-888+1511A>G (n.-888+1511A>G) | |
| 17 | g.4932831T>G | CA397315256 | CHRNE,GP1BA | c.227T>G (p.Leu76Arg) c.-888+1511A>C (n.-888+1511A>C) | |
| 17 | g.4932832G>A | CA497677449 | CHRNE,GP1BA | c.228G>A (p.Leu76=) c.-888+1510C>T (n.-888+1510C>T) | |
| 17 | g.4932832G>C | CA497677450 | CHRNE,GP1BA | c.228G>C (p.Leu76=) c.-888+1510C>G (n.-888+1510C>G) | |
| 17 | g.4932832G>T | CA497677451 | CHRNE,GP1BA | c.228G>T (p.Leu76=) c.-888+1510C>A (n.-888+1510C>A) | |
| 17 | g.4932833A= | CA2244625321 | CHRNE,GP1BA | c.229A= (p.Asn77=) c.-888+1509T= (n.-888+1509T=) | |
| 17 | g.4932833A>C | CA397315259 | CHRNE,GP1BA | c.229A>C (p.Asn77His) c.-888+1509T>G (n.-888+1509T>G) | |
| 17 | g.4932833A>G | CA287215774 | CHRNE,GP1BA | c.229A>G (p.Asn77Asp) c.-888+1509T>C (n.-888+1509T>C) | dbSNP |
| 17 | g.4932833A>T | CA397315266 | CHRNE,GP1BA | c.229A>T (p.Asn77Tyr) c.-888+1509T>A (n.-888+1509T>A) | |
| 17 | g.4932834A= | CA2244625322 | CHRNE,GP1BA | c.230A= (p.Asn77=) c.-888+1508T= (n.-888+1508T=) | |
| 17 | g.4932834A>C | CA397315270 | CHRNE,GP1BA | c.230A>C (p.Asn77Thr) c.-888+1508T>G (n.-888+1508T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932834A>G | CA397315272 | CHRNE,GP1BA | c.230A>G (p.Asn77Ser) c.-888+1508T>C (n.-888+1508T>C) | |
| 17 | g.4932834A>T | CA397315278 | CHRNE,GP1BA | c.230A>T (p.Asn77Ile) c.-888+1508T>A (n.-888+1508T>A) | |
| 17 | g.4932835C>A | CA397315283 | CHRNE,GP1BA | c.231C>A (p.Asn77Lys) c.-888+1507G>T (n.-888+1507G>T) | |
| 17 | g.4932835C>G | CA397315279 | CHRNE,GP1BA | c.231C>G (p.Asn77Lys) c.-888+1507G>C (n.-888+1507G>C) | gnomAD v4 |
| 17 | g.4932835C>T | CA497677454 | CHRNE,GP1BA | c.231C>T (p.Asn77=) c.-888+1507G>A (n.-888+1507G>A) | |
| 17 | g.4932836C>A | CA397315286 | CHRNE,GP1BA | c.232C>A (p.Leu78Ile) c.-888+1506G>T (n.-888+1506G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932836C= | CA2244625323 | CHRNE,GP1BA | c.232C= (p.Leu78=) c.-888+1506G= (n.-888+1506G=) | |
| 17 | g.4932836C>G | CA397315290 | CHRNE,GP1BA | c.232C>G (p.Leu78Val) c.-888+1506G>C (n.-888+1506G>C) | |
| 17 | g.4932836C>T | CA497677456 | CHRNE,GP1BA | c.232C>T (p.Leu78=) c.-888+1506G>A (n.-888+1506G>A) | |
| 17 | g.4932837T>A | CA397315296 | CHRNE,GP1BA | c.233T>A (p.Leu78Gln) c.-888+1505A>T (n.-888+1505A>T) | |
| 17 | g.4932837T>C | CA397315298 | CHRNE,GP1BA | c.233T>C (p.Leu78Pro) c.-888+1505A>G (n.-888+1505A>G) | gnomAD v4 |
| 17 | g.4932837T>G | CA397315301 | CHRNE,GP1BA | c.233T>G (p.Leu78Arg) c.-888+1505A>C (n.-888+1505A>C) | |
| 17 | g.4932838A>C | CA497677459 | CHRNE,GP1BA | c.234A>C (p.Leu78=) c.-888+1504T>G (n.-888+1504T>G) | |
| 17 | g.4932838A>G | CA497677460 | CHRNE,GP1BA | c.234A>G (p.Leu78=) c.-888+1504T>C (n.-888+1504T>C) | |
| 17 | g.4932838A>T | CA497677461 | CHRNE,GP1BA | c.234A>T (p.Leu78=) c.-888+1504T>A (n.-888+1504T>A) | |
| 17 | g.4932839G>A | CA397315306 | CHRNE,GP1BA | c.235G>A (p.Asp79Asn) c.-888+1503C>T (n.-888+1503C>T) | |
| 17 | g.4932839G>C | CA397315308 | CHRNE,GP1BA | c.235G>C (p.Asp79His) c.-888+1503C>G (n.-888+1503C>G) | gnomAD v4 |
| 17 | g.4932839G>T | CA397315311 | CHRNE,GP1BA | c.235G>T (p.Asp79Tyr) c.-888+1503C>A (n.-888+1503C>A) | |
| 17 | g.4932840A= | CA2244625324 | CHRNE,GP1BA | c.236A= (p.Asp79=) c.-888+1502T= (n.-888+1502T=) | |
| 17 | g.4932840A>C | CA397315317 | CHRNE,GP1BA | c.236A>C (p.Asp79Ala) c.-888+1502T>G (n.-888+1502T>G) | |
| 17 | g.4932840A>G | CA8314722 | CHRNE,GP1BA | c.236A>G (p.Asp79Gly) c.-888+1502T>C (n.-888+1502T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932840A>T | CA397315320 | CHRNE,GP1BA | c.236A>T (p.Asp79Val) c.-888+1502T>A (n.-888+1502T>A) | |
| 17 | g.4932840dup | CA2695224138 | CHRNE,GP1BA | c.236dup (p.Asp79GlufsTer2) c.-888+1502dup (n.-888+1502dup) | |
| 17 | g.4932841T>A | CA397315323 | CHRNE,GP1BA | c.237T>A (p.Asp79Glu) c.-888+1501A>T (n.-888+1501A>T) | |
| 17 | g.4932841T>C | CA8314723 | CHRNE,GP1BA | c.237T>C (p.Asp79=) c.-888+1501A>G (n.-888+1501A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932841T>G | CA397315328 | CHRNE,GP1BA | c.237T>G (p.Asp79Glu) c.-888+1501A>C (n.-888+1501A>C) | |
| 17 | g.4932841T= | CA2244625325 | CHRNE,GP1BA | c.237T= (p.Asp79=) c.-888+1501A= (n.-888+1501A=) | |
| 17 | g.4932842A= | CA2244625326 | CHRNE,GP1BA | c.238A= (p.Arg80=) c.-888+1500T= (n.-888+1500T=) | |
| 17 | g.4932842A>C | CA497677466 | CHRNE,GP1BA | c.238A>C (p.Arg80=) c.-888+1500T>G (n.-888+1500T>G) | |
| 17 | g.4932842A>G | CA397315334 | CHRNE,GP1BA | c.238A>G (p.Arg80Gly) c.-888+1500T>C (n.-888+1500T>C) | dbSNP |
| 17 | g.4932842A>T | CA397315331 | CHRNE,GP1BA | c.238A>T (p.Arg80Trp) c.-888+1500T>A (n.-888+1500T>A) | |
| 17 | g.4932843G>A | CA397315338 | CHRNE,GP1BA | c.239G>A (p.Arg80Lys) c.-888+1499C>T (n.-888+1499C>T) | |
| 17 | g.4932843G>C | CA397315340 | CHRNE,GP1BA | c.239G>C (p.Arg80Thr) c.-888+1499C>G (n.-888+1499C>G) | dbSNP gnomAD v4 |
| 17 | g.4932843G= | CA2244625327 | CHRNE,GP1BA | c.239G= (p.Arg80=) c.-888+1499C= (n.-888+1499C=) | |
| 17 | g.4932843G>T | CA397315344 | CHRNE,GP1BA | c.239G>T (p.Arg80Met) c.-888+1499C>A (n.-888+1499C>A) | |
| 17 | g.4932844G>A | CA8314724 | CHRNE,GP1BA | c.240G>A (p.Arg80=) c.-888+1498C>T (n.-888+1498C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932844G>C | CA397315349 | CHRNE,GP1BA | c.240G>C (p.Arg80Ser) c.-888+1498C>G (n.-888+1498C>G) | |
| 17 | g.4932844G= | CA2244625328 | CHRNE,GP1BA | c.240G= (p.Arg80=) c.-888+1498C= (n.-888+1498C=) | |
| 17 | g.4932844G>T | CA397315351 | CHRNE,GP1BA | c.240G>T (p.Arg80Ser) c.-888+1498C>A (n.-888+1498C>A) | |
| 17 | g.4932845T>A | CA397315360 | CHRNE,GP1BA | c.241T>A (p.Cys81Ser) c.-888+1497A>T (n.-888+1497A>T) | |
| 17 | g.4932845T>C | CA287215802 | CHRNE,GP1BA | c.241T>C (p.Cys81Arg) c.-888+1497A>G (n.-888+1497A>G) | ClinVar dbSNP |
| 17 | g.4932845T>G | CA397315356 | CHRNE,GP1BA | c.241T>G (p.Cys81Gly) c.-888+1497A>C (n.-888+1497A>C) | |
| 17 | g.4932845T= | CA2244625329 | CHRNE,GP1BA | c.241T= (p.Cys81=) c.-888+1497A= (n.-888+1497A=) | |
| 17 | g.4932846G>A | CA397315374 | CHRNE,GP1BA | c.242G>A (p.Cys81Tyr) c.-888+1496C>T (n.-888+1496C>T) | |
| 17 | g.4932846G>C | CA397315376 | CHRNE,GP1BA | c.242G>C (p.Cys81Ser) c.-888+1496C>G (n.-888+1496C>G) | |
| 17 | g.4932846G>T | CA397315379 | CHRNE,GP1BA | c.242G>T (p.Cys81Phe) c.-888+1496C>A (n.-888+1496C>A) | |
| 17 | g.4932847C>A | CA397315380 | CHRNE,GP1BA | c.243C>A (p.Cys81Ter) c.-888+1495G>T (n.-888+1495G>T) | |
| 17 | g.4932847C= | CA2244625330 | CHRNE,GP1BA | c.243C= (p.Cys81=) c.-888+1495G= (n.-888+1495G=) | |
| 17 | g.4932847C>G | CA397315387 | CHRNE,GP1BA | c.243C>G (p.Cys81Trp) c.-888+1495G>C (n.-888+1495G>C) | dbSNP |
| 17 | g.4932847C>T | CA287215807 | CHRNE,GP1BA | c.243C>T (p.Cys81=) c.-888+1495G>A (n.-888+1495G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932848G>A | CA8314725 | CHRNE,GP1BA | c.244G>A (p.Glu82Lys) c.-888+1494C>T (n.-888+1494C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932848G>C | CA8314726 | CHRNE,GP1BA | c.244G>C (p.Glu82Gln) c.-888+1494C>G (n.-888+1494C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932848G= | CA2244625331 | CHRNE,GP1BA | c.244G= (p.Glu82=) c.-888+1494C= (n.-888+1494C=) | |
| 17 | g.4932848G>T | CA397315391 | CHRNE,GP1BA | c.244G>T (p.Glu82Ter) c.-888+1494C>A (n.-888+1494C>A) | |
| 17 | g.4932849A>C | CA397315396 | CHRNE,GP1BA | c.245A>C (p.Glu82Ala) c.-888+1493T>G (n.-888+1493T>G) | |
| 17 | g.4932849A>G | CA397315400 | CHRNE,GP1BA | c.245A>G (p.Glu82Gly) c.-888+1493T>C (n.-888+1493T>C) | |
| 17 | g.4932849A>T | CA397315398 | CHRNE,GP1BA | c.245A>T (p.Glu82Val) c.-888+1493T>A (n.-888+1493T>A) | |
| 17 | g.4932854_4932862del | CA2635578663 | CHRNE,GP1BA | c.250_258del (p.Thr84_Leu86del) c.-888+1485_-888+1493del (n.-888+1485_-888+1493del) | gnomAD v4 |
| 17 | g.4932850G>A | CA8314727 | CHRNE,GP1BA | c.246G>A (p.Glu82=) c.-888+1492C>T (n.-888+1492C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932850G>C | CA397315404 | CHRNE,GP1BA | c.246G>C (p.Glu82Asp) c.-888+1492C>G (n.-888+1492C>G) | |
| 17 | g.4932850G= | CA2244625332 | CHRNE,GP1BA | c.246G= (p.Glu82=) c.-888+1492C= (n.-888+1492C=) | |
| 17 | g.4932850G>T | CA397315407 | CHRNE,GP1BA | c.246G>T (p.Glu82Asp) c.-888+1492C>A (n.-888+1492C>A) | |
| 17 | g.4932851C>A | CA397315410 | CHRNE,GP1BA | c.247C>A (p.Leu83Ile) c.-888+1491G>T (n.-888+1491G>T) | |
| 17 | g.4932851C= | CA2244625333 | CHRNE,GP1BA | c.247C= (p.Leu83=) c.-888+1491G= (n.-888+1491G=) | |
| 17 | g.4932851C>G | CA397315413 | CHRNE,GP1BA | c.247C>G (p.Leu83Val) c.-888+1491G>C (n.-888+1491G>C) | |
| 17 | g.4932851C>T | CA8314728 | CHRNE,GP1BA | c.247C>T (p.Leu83Phe) c.-888+1491G>A (n.-888+1491G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932852T>A | CA397315428 | CHRNE,GP1BA | c.248T>A (p.Leu83His) c.-888+1490A>T (n.-888+1490A>T) | |
| 17 | g.4932852T>C | CA397315430 | CHRNE,GP1BA | c.248T>C (p.Leu83Pro) c.-888+1490A>G (n.-888+1490A>G) | |
| 17 | g.4932852T>G | CA397315433 | CHRNE,GP1BA | c.248T>G (p.Leu83Arg) c.-888+1490A>C (n.-888+1490A>C) | |
| 17 | g.4932853C>A | CA497677483 | CHRNE,GP1BA | c.249C>A (p.Leu83=) c.-888+1489G>T (n.-888+1489G>T) | |
| 17 | g.4932853C>G | CA497677484 | CHRNE,GP1BA | c.249C>G (p.Leu83=) c.-888+1489G>C (n.-888+1489G>C) | |
| 17 | g.4932853C>T | CA497677485 | CHRNE,GP1BA | c.249C>T (p.Leu83=) c.-888+1489G>A (n.-888+1489G>A) | gnomAD v4 |
| 17 | g.4932855_4932857del | CA2573152976 | CHRNE,GP1BA | c.251_253del (p.Thr84del) c.-888+1487_-888+1489del (n.-888+1487_-888+1489del) | ClinVar dbSNP |
| 17 | g.4932854A>C | CA397315436 | CHRNE,GP1BA | c.250A>C (p.Thr84Pro) c.-888+1488T>G (n.-888+1488T>G) | |
| 17 | g.4932854A>G | CA397315437 | CHRNE,GP1BA | c.250A>G (p.Thr84Ala) c.-888+1488T>C (n.-888+1488T>C) | |
| 17 | g.4932854A>T | CA397315440 | CHRNE,GP1BA | c.250A>T (p.Thr84Ser) c.-888+1488T>A (n.-888+1488T>A) | |
| 17 | g.4932855C>A | CA397315458 | CHRNE,GP1BA | c.251C>A (p.Thr84Asn) c.-888+1487G>T (n.-888+1487G>T) | |
| 17 | g.4932855C>G | CA397315453 | CHRNE,GP1BA | c.251C>G (p.Thr84Ser) c.-888+1487G>C (n.-888+1487G>C) | |
| 17 | g.4932855C>T | CA397315455 | CHRNE,GP1BA | c.251C>T (p.Thr84Ile) c.-888+1487G>A (n.-888+1487G>A) | |
| 17 | g.4932856del | CA2695224139 | CHRNE,GP1BA | c.252del (p.Lys85SerfsTer27) c.-888+1487del (n.-888+1487del) | |
| 17 | g.4932856C>A | CA497677486 | CHRNE,GP1BA | c.252C>A (p.Thr84=) c.-888+1486G>T (n.-888+1486G>T) | |
| 17 | g.4932856C= | CA2244625334 | CHRNE,GP1BA | c.252C= (p.Thr84=) c.-888+1486G= (n.-888+1486G=) | |
| 17 | g.4932856C>G | CA497677487 | CHRNE,GP1BA | c.252C>G (p.Thr84=) c.-888+1486G>C (n.-888+1486G>C) | |
| 17 | g.4932856C>T | CA497677490 | CHRNE,GP1BA | c.252C>T (p.Thr84=) c.-888+1486G>A (n.-888+1486G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932857A>C | CA397315460 | CHRNE,GP1BA | c.253A>C (p.Lys85Gln) c.-888+1485T>G (n.-888+1485T>G) | |
| 17 | g.4932857A>G | CA397315463 | CHRNE,GP1BA | c.253A>G (p.Lys85Glu) c.-888+1485T>C (n.-888+1485T>C) | |
| 17 | g.4932857A>T | CA397315468 | CHRNE,GP1BA | c.253A>T (p.Lys85Ter) c.-888+1485T>A (n.-888+1485T>A) | |
| 17 | g.4932858A>C | CA397315471 | CHRNE,GP1BA | c.254A>C (p.Lys85Thr) c.-888+1484T>G (n.-888+1484T>G) | |
| 17 | g.4932858A>G | CA397315473 | CHRNE,GP1BA | c.254A>G (p.Lys85Arg) c.-888+1484T>C (n.-888+1484T>C) | gnomAD v4 |
| 17 | g.4932858A>T | CA397315476 | CHRNE,GP1BA | c.254A>T (p.Lys85Met) c.-888+1484T>A (n.-888+1484T>A) | |
| 17 | g.4932859G>A | CA497677493 | CHRNE,GP1BA | c.255G>A (p.Lys85=) c.-888+1483C>T (n.-888+1483C>T) | |
| 17 | g.4932859G>C | CA397315482 | CHRNE,GP1BA | c.255G>C (p.Lys85Asn) c.-888+1483C>G (n.-888+1483C>G) | |
| 17 | g.4932859G>T | CA397315484 | CHRNE,GP1BA | c.255G>T (p.Lys85Asn) c.-888+1483C>A (n.-888+1483C>A) | |
| 17 | g.4932860C>A | CA397315487 | CHRNE,GP1BA | c.256C>A (p.Leu86Ile) c.-888+1482G>T (n.-888+1482G>T) | |
| 17 | g.4932860C= | CA2244625335 | CHRNE,GP1BA | c.256C= (p.Leu86=) c.-888+1482G= (n.-888+1482G=) | |
| 17 | g.4932860C>G | CA397315491 | CHRNE,GP1BA | c.256C>G (p.Leu86Val) c.-888+1482G>C (n.-888+1482G>C) | |
| 17 | g.4932860C>T | CA8314729 | CHRNE,GP1BA | c.256C>T (p.Leu86Phe) c.-888+1482G>A (n.-888+1482G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932861T>A | CA397315502 | CHRNE,GP1BA | c.257T>A (p.Leu86His) c.-888+1481A>T (n.-888+1481A>T) | |
| 17 | g.4932861T>C | CA397315500 | CHRNE,GP1BA | c.257T>C (p.Leu86Pro) c.-888+1481A>G (n.-888+1481A>G) | |
| 17 | g.4932861T>G | CA397315497 | CHRNE,GP1BA | c.257T>G (p.Leu86Arg) c.-888+1481A>C (n.-888+1481A>C) | |
| 17 | g.4932862C>A | CA497677498 | CHRNE,GP1BA | c.258C>A (p.Leu86=) c.-888+1480G>T (n.-888+1480G>T) | |
| 17 | g.4932862C= | CA2244625336 | CHRNE,GP1BA | c.258C= (p.Leu86=) c.-888+1480G= (n.-888+1480G=) | |
| 17 | g.4932862C>G | CA497677499 | CHRNE,GP1BA | c.258C>G (p.Leu86=) c.-888+1480G>C (n.-888+1480G>C) | |
| 17 | g.4932862C>T | CA497677500 | CHRNE,GP1BA | c.258C>T (p.Leu86=) c.-888+1480G>A (n.-888+1480G>A) | dbSNP gnomAD v4 |
| 17 | g.4932863C>A | CA397315510 | CHRNE,GP1BA | c.259C>A (p.Gln87Lys) c.-888+1479G>T (n.-888+1479G>T) | |
| 17 | g.4932863C>G | CA397315505 | CHRNE,GP1BA | c.259C>G (p.Gln87Glu) c.-888+1479G>C (n.-888+1479G>C) | |
| 17 | g.4932863C>T | CA397315509 | CHRNE,GP1BA | c.259C>T (p.Gln87Ter) c.-888+1479G>A (n.-888+1479G>A) | |
| 17 | g.4932864A>C | CA397315515 | CHRNE,GP1BA | c.260A>C (p.Gln87Pro) c.-888+1478T>G (n.-888+1478T>G) | |
| 17 | g.4932864A>G | CA397315519 | CHRNE,GP1BA | c.260A>G (p.Gln87Arg) c.-888+1478T>C (n.-888+1478T>C) | |
| 17 | g.4932864A>T | CA397315522 | CHRNE,GP1BA | c.260A>T (p.Gln87Leu) c.-888+1478T>A (n.-888+1478T>A) | |
| 17 | g.4932865G>A | CA497677505 | CHRNE,GP1BA | c.261G>A (p.Gln87=) c.-888+1477C>T (n.-888+1477C>T) | |
| 17 | g.4932865G>C | CA287215855 | CHRNE,GP1BA | c.261G>C (p.Gln87His) c.-888+1477C>G (n.-888+1477C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932865G= | CA2244625337 | CHRNE,GP1BA | c.261G= (p.Gln87=) c.-888+1477C= (n.-888+1477C=) | |
| 17 | g.4932865G>T | CA397315530 | CHRNE,GP1BA | c.261G>T (p.Gln87His) c.-888+1477C>A (n.-888+1477C>A) | |
| 17 | g.4932866G>A | CA397315533 | CHRNE,GP1BA | c.262G>A (p.Val88Ile) c.-888+1476C>T (n.-888+1476C>T) | dbSNP |
| 17 | g.4932866G>C | CA397315535 | CHRNE,GP1BA | c.262G>C (p.Val88Leu) c.-888+1476C>G (n.-888+1476C>G) | |
| 17 | g.4932866G= | CA2244625338 | CHRNE,GP1BA | c.262G= (p.Val88=) c.-888+1476C= (n.-888+1476C=) | |
| 17 | g.4932866G>T | CA397315534 | CHRNE,GP1BA | c.262G>T (p.Val88Phe) c.-888+1476C>A (n.-888+1476C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932867T>A | CA397315536 | CHRNE,GP1BA | c.263T>A (p.Val88Asp) c.-888+1475A>T (n.-888+1475A>T) | |
| 17 | g.4932867T>C | CA397315537 | CHRNE,GP1BA | c.263T>C (p.Val88Ala) c.-888+1475A>G (n.-888+1475A>G) | |
| 17 | g.4932867T>G | CA397315538 | CHRNE,GP1BA | c.263T>G (p.Val88Gly) c.-888+1475A>C (n.-888+1475A>C) | |
| 17 | g.4932868C>A | CA497677508 | CHRNE,GP1BA | c.264C>A (p.Val88=) c.-888+1474G>T (n.-888+1474G>T) | |
| 17 | g.4932868C= | CA2244625339 | CHRNE,GP1BA | c.264C= (p.Val88=) c.-888+1474G= (n.-888+1474G=) | |
| 17 | g.4932868C>G | CA497677509 | CHRNE,GP1BA | c.264C>G (p.Val88=) c.-888+1474G>C (n.-888+1474G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932868C>T | CA8314730 | CHRNE,GP1BA | c.264C>T (p.Val88=) c.-888+1474G>A (n.-888+1474G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932869G>A | CA397315542 | CHRNE,GP1BA | c.265G>A (p.Asp89Asn) c.-888+1473C>T (n.-888+1473C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932869G>C | CA397315544 | CHRNE,GP1BA | c.265G>C (p.Asp89His) c.-888+1473C>G (n.-888+1473C>G) | |
| 17 | g.4932869G= | CA2244625340 | CHRNE,GP1BA | c.265G= (p.Asp89=) c.-888+1473C= (n.-888+1473C=) | |
| 17 | g.4932869G>T | CA397315543 | CHRNE,GP1BA | c.265G>T (p.Asp89Tyr) c.-888+1473C>A (n.-888+1473C>A) | gnomAD v4 |
| 17 | g.4932870A>C | CA397315546 | CHRNE,GP1BA | c.266A>C (p.Asp89Ala) c.-888+1472T>G (n.-888+1472T>G) | |
| 17 | g.4932870A>G | CA397315549 | CHRNE,GP1BA | c.266A>G (p.Asp89Gly) c.-888+1472T>C (n.-888+1472T>C) | |
| 17 | g.4932870A>T | CA397315552 | CHRNE,GP1BA | c.266A>T (p.Asp89Val) c.-888+1472T>A (n.-888+1472T>A) | |
| 17 | g.4932870dup | CA2695224140 | CHRNE,GP1BA | c.266dup (p.Asp89GlufsTer?) c.-888+1472dup (n.-888+1472dup) | |
| 17 | g.4932871T>A | CA397315555 | CHRNE,GP1BA | c.267T>A (p.Asp89Glu) c.-888+1471A>T (n.-888+1471A>T) | |
| 17 | g.4932871T>C | CA497677511 | CHRNE,GP1BA | c.267T>C (p.Asp89=) c.-888+1471A>G (n.-888+1471A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932871T>G | CA397315558 | CHRNE,GP1BA | c.267T>G (p.Asp89Glu) c.-888+1471A>C (n.-888+1471A>C) | |
| 17 | g.4932871T= | CA2244625341 | CHRNE,GP1BA | c.267T= (p.Asp89=) c.-888+1471A= (n.-888+1471A=) | |
| 17 | g.4932872G>A | CA397315560 | CHRNE,GP1BA | c.268G>A (p.Gly90Arg) c.-888+1470C>T (n.-888+1470C>T) | |
| 17 | g.4932872G>C | CA397315562 | CHRNE,GP1BA | c.268G>C (p.Gly90Arg) c.-888+1470C>G (n.-888+1470C>G) | |
| 17 | g.4932872G>T | CA397315567 | CHRNE,GP1BA | c.268G>T (p.Gly90Trp) c.-888+1470C>A (n.-888+1470C>A) | |
| 17 | g.4932873G>A | CA397315575 | CHRNE,GP1BA | c.269G>A (p.Gly90Glu) c.-888+1469C>T (n.-888+1469C>T) | |
| 17 | g.4932873G>C | CA397315578 | CHRNE,GP1BA | c.269G>C (p.Gly90Ala) c.-888+1469C>G (n.-888+1469C>G) | |
| 17 | g.4932873G>T | CA397315582 | CHRNE,GP1BA | c.269G>T (p.Gly90Val) c.-888+1469C>A (n.-888+1469C>A) | |
| 17 | g.4932874G>A | CA497677516 | CHRNE,GP1BA | c.270G>A (p.Gly90=) c.-888+1468C>T (n.-888+1468C>T) | gnomAD v4 |
| 17 | g.4932874G>C | CA497677515 | CHRNE,GP1BA | c.270G>C (p.Gly90=) c.-888+1468C>G (n.-888+1468C>G) | |
| 17 | g.4932874G>T | CA497677514 | CHRNE,GP1BA | c.270G>T (p.Gly90=) c.-888+1468C>A (n.-888+1468C>A) | |
| 17 | g.4932875A= | CA2244625342 | CHRNE,GP1BA | c.271A= (p.Thr91=) c.-888+1467T= (n.-888+1467T=) | |
| 17 | g.4932875A>C | CA397315586 | CHRNE,GP1BA | c.271A>C (p.Thr91Pro) c.-888+1467T>G (n.-888+1467T>G) | |
| 17 | g.4932875A>G | CA397315588 | CHRNE,GP1BA | c.271A>G (p.Thr91Ala) c.-888+1467T>C (n.-888+1467T>C) | |
| 17 | g.4932875A>T | CA8314731 | CHRNE,GP1BA | c.271A>T (p.Thr91Ser) c.-888+1467T>A (n.-888+1467T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932876C>A | CA8314733 | CHRNE,GP1BA | c.272C>A (p.Thr91Lys) c.-888+1466G>T (n.-888+1466G>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932876C= | CA2244625343 | CHRNE,GP1BA | c.272C= (p.Thr91=) c.-888+1466G= (n.-888+1466G=) | |
| 17 | g.4932876C>G | CA397315596 | CHRNE,GP1BA | c.272C>G (p.Thr91Arg) c.-888+1466G>C (n.-888+1466G>C) | |
| 17 | g.4932876C>T | CA8314732 | CHRNE,GP1BA | c.272C>T (p.Thr91Met) c.-888+1466G>A (n.-888+1466G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932877G>A | CA8314734 | CHRNE,GP1BA | c.273G>A (p.Thr91=) c.-888+1465C>T (n.-888+1465C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932877G>C | CA497677522 | CHRNE,GP1BA | c.273G>C (p.Thr91=) c.-888+1465C>G (n.-888+1465C>G) | |
| 17 | g.4932877G= | CA2244625344 | CHRNE,GP1BA | c.273G= (p.Thr91=) c.-888+1465C= (n.-888+1465C=) | |
| 17 | g.4932877G>T | CA497677521 | CHRNE,GP1BA | c.273G>T (p.Thr91=) c.-888+1465C>A (n.-888+1465C>A) | |
| 17 | g.4932878C>A | CA397315599 | CHRNE,GP1BA | c.274C>A (p.Leu92Met) c.-888+1464G>T (n.-888+1464G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932878C= | CA2244625345 | CHRNE,GP1BA | c.274C= (p.Leu92=) c.-888+1464G= (n.-888+1464G=) | |
| 17 | g.4932878C>G | CA397315598 | CHRNE,GP1BA | c.274C>G (p.Leu92Val) c.-888+1464G>C (n.-888+1464G>C) | |
| 17 | g.4932878C>T | CA497677525 | CHRNE,GP1BA | c.274C>T (p.Leu92=) c.-888+1464G>A (n.-888+1464G>A) | |
| 17 | g.4932879del | CA2635578680 | CHRNE,GP1BA | c.275del (p.Leu92ArgfsTer20) c.-888+1463del (n.-888+1463del) | gnomAD v4 |
| 17 | g.4932879T>A | CA397315602 | CHRNE,GP1BA | c.275T>A (p.Leu92Gln) c.-888+1463A>T (n.-888+1463A>T) | |
| 17 | g.4932879T>C | CA397315609 | CHRNE,GP1BA | c.275T>C (p.Leu92Pro) c.-888+1463A>G (n.-888+1463A>G) | |
| 17 | g.4932879T>G | CA397315613 | CHRNE,GP1BA | c.275T>G (p.Leu92Arg) c.-888+1463A>C (n.-888+1463A>C) | |
| 17 | g.4932880G>A | CA497677527 | CHRNE,GP1BA | c.276G>A (p.Leu92=) c.-888+1462C>T (n.-888+1462C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932880G>C | CA497677529 | CHRNE,GP1BA | c.276G>C (p.Leu92=) c.-888+1462C>G (n.-888+1462C>G) | |
| 17 | g.4932880G= | CA2244625346 | CHRNE,GP1BA | c.276G= (p.Leu92=) c.-888+1462C= (n.-888+1462C=) | |
| 17 | g.4932880G>T | CA497677531 | CHRNE,GP1BA | c.276G>T (p.Leu92=) c.-888+1462C>A (n.-888+1462C>A) | |
| 17 | g.4932881C>A | CA397315618 | CHRNE,GP1BA | c.277C>A (p.Pro93Thr) c.-888+1461G>T (n.-888+1461G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932881C= | CA2244625347 | CHRNE,GP1BA | c.277C= (p.Pro93=) c.-888+1461G= (n.-888+1461G=) | |
| 17 | g.4932881C>G | CA397315620 | CHRNE,GP1BA | c.277C>G (p.Pro93Ala) c.-888+1461G>C (n.-888+1461G>C) | |
| 17 | g.4932881C>T | CA397315624 | CHRNE,GP1BA | c.277C>T (p.Pro93Ser) c.-888+1461G>A (n.-888+1461G>A) | |
| 17 | g.4932882dup | CA2695224141 | CHRNE,GP1BA | c.278dup (p.Val94SerfsTer?) c.-888+1461dup (n.-888+1461dup) | |
| 17 | g.4932882C>A | CA397315627 | CHRNE,GP1BA | c.278C>A (p.Pro93Gln) c.-888+1460G>T (n.-888+1460G>T) | |
| 17 | g.4932882C>G | CA397315629 | CHRNE,GP1BA | c.278C>G (p.Pro93Arg) c.-888+1460G>C (n.-888+1460G>C) | |
| 17 | g.4932882C>T | CA397315631 | CHRNE,GP1BA | c.278C>T (p.Pro93Leu) c.-888+1460G>A (n.-888+1460G>A) | |
| 17 | g.4932883A>C | CA497677534 | CHRNE,GP1BA | c.279A>C (p.Pro93=) c.-888+1459T>G (n.-888+1459T>G) | |
| 17 | g.4932883A>G | CA497677535 | CHRNE,GP1BA | c.279A>G (p.Pro93=) c.-888+1459T>C (n.-888+1459T>C) | gnomAD v4 |
| 17 | g.4932883A>T | CA497677536 | CHRNE,GP1BA | c.279A>T (p.Pro93=) c.-888+1459T>A (n.-888+1459T>A) | |
| 17 | g.4932884G>A | CA397315635 | CHRNE,GP1BA | c.280G>A (p.Val94Met) c.-888+1458C>T (n.-888+1458C>T) | |
| 17 | g.4932884G>C | CA397315637 | CHRNE,GP1BA | c.280G>C (p.Val94Leu) c.-888+1458C>G (n.-888+1458C>G) | |
| 17 | g.4932884G>T | CA397315640 | CHRNE,GP1BA | c.280G>T (p.Val94Leu) c.-888+1458C>A (n.-888+1458C>A) | |
| 17 | g.4932885T>A | CA397315643 | CHRNE,GP1BA | c.281T>A (p.Val94Glu) c.-888+1457A>T (n.-888+1457A>T) | |
| 17 | g.4932885T>C | CA397315648 | CHRNE,GP1BA | c.281T>C (p.Val94Ala) c.-888+1457A>G (n.-888+1457A>G) | |
| 17 | g.4932885T>G | CA397315645 | CHRNE,GP1BA | c.281T>G (p.Val94Gly) c.-888+1457A>C (n.-888+1457A>C) | |
| 17 | g.4932886G>A | CA497677539 | CHRNE,GP1BA | c.282G>A (p.Val94=) c.-888+1456C>T (n.-888+1456C>T) | |
| 17 | g.4932886G>C | CA497677540 | CHRNE,GP1BA | c.282G>C (p.Val94=) c.-888+1456C>G (n.-888+1456C>G) | |
| 17 | g.4932886G>T | CA497677541 | CHRNE,GP1BA | c.282G>T (p.Val94=) c.-888+1456C>A (n.-888+1456C>A) | |
| 17 | g.4932887C>A | CA397315652 | CHRNE,GP1BA | c.283C>A (p.Leu95Met) c.-888+1455G>T (n.-888+1455G>T) | |
| 17 | g.4932887C>G | CA397315653 | CHRNE,GP1BA | c.283C>G (p.Leu95Val) c.-888+1455G>C (n.-888+1455G>C) | |
| 17 | g.4932887C>T | CA497677543 | CHRNE,GP1BA | c.283C>T (p.Leu95=) c.-888+1455G>A (n.-888+1455G>A) | |
| 17 | g.4932888T>A | CA397315655 | CHRNE,GP1BA | c.284T>A (p.Leu95Gln) c.-888+1454A>T (n.-888+1454A>T) | |
| 17 | g.4932888T>C | CA397315657 | CHRNE,GP1BA | c.284T>C (p.Leu95Pro) c.-888+1454A>G (n.-888+1454A>G) | |
| 17 | g.4932888T>G | CA397315658 | CHRNE,GP1BA | c.284T>G (p.Leu95Arg) c.-888+1454A>C (n.-888+1454A>C) | ClinVar gnomAD v4 |
| 17 | g.4932889G>A | CA497677545 | CHRNE,GP1BA | c.285G>A (p.Leu95=) c.-888+1453C>T (n.-888+1453C>T) | |
| 17 | g.4932889G>C | CA497677546 | CHRNE,GP1BA | c.285G>C (p.Leu95=) c.-888+1453C>G (n.-888+1453C>G) | |
| 17 | g.4932889G>T | CA497677547 | CHRNE,GP1BA | c.285G>T (p.Leu95=) c.-888+1453C>A (n.-888+1453C>A) | |
| 17 | g.4932890G>A | CA397315662 | CHRNE,GP1BA | c.286G>A (p.Gly96Arg) c.-888+1452C>T (n.-888+1452C>T) | |
| 17 | g.4932890G>C | CA397315664 | CHRNE,GP1BA | c.286G>C (p.Gly96Arg) c.-888+1452C>G (n.-888+1452C>G) | |
| 17 | g.4932890G>T | CA397315666 | CHRNE,GP1BA | c.286G>T (p.Gly96Trp) c.-888+1452C>A (n.-888+1452C>A) | |
| 17 | g.4932891G>A | CA8314735 | CHRNE,GP1BA | c.287G>A (p.Gly96Glu) c.-888+1451C>T (n.-888+1451C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932891G>C | CA397315670 | CHRNE,GP1BA | c.287G>C (p.Gly96Ala) c.-888+1451C>G (n.-888+1451C>G) | |
| 17 | g.4932891G= | CA2244625348 | CHRNE,GP1BA | c.287G= (p.Gly96=) c.-888+1451C= (n.-888+1451C=) | |
| 17 | g.4932891G>T | CA397315671 | CHRNE,GP1BA | c.287G>T (p.Gly96Val) c.-888+1451C>A (n.-888+1451C>A) | |
| 17 | g.4932892G>A | CA8314736 | CHRNE,GP1BA | c.288G>A (p.Gly96=) c.-888+1450C>T (n.-888+1450C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932892G>C | CA497677551 | CHRNE,GP1BA | c.288G>C (p.Gly96=) c.-888+1450C>G (n.-888+1450C>G) | |
| 17 | g.4932892G= | CA2244625349 | CHRNE,GP1BA | c.288G= (p.Gly96=) c.-888+1450C= (n.-888+1450C=) | |
| 17 | g.4932892G>T | CA497677550 | CHRNE,GP1BA | c.288G>T (p.Gly96=) c.-888+1450C>A (n.-888+1450C>A) | COSMIC |
| 17 | g.4932893A>C | CA397315680 | CHRNE,GP1BA | c.289A>C (p.Thr97Pro) c.-888+1449T>G (n.-888+1449T>G) | |
| 17 | g.4932893A>G | CA397315674 | CHRNE,GP1BA | c.289A>G (p.Thr97Ala) c.-888+1449T>C (n.-888+1449T>C) | |
| 17 | g.4932893A>T | CA397315676 | CHRNE,GP1BA | c.289A>T (p.Thr97Ser) c.-888+1449T>A (n.-888+1449T>A) | |
| 17 | g.4932894C>A | CA397315685 | CHRNE,GP1BA | c.290C>A (p.Thr97Asn) c.-888+1448G>T (n.-888+1448G>T) | |
| 17 | g.4932894C= | CA2244625350 | CHRNE,GP1BA | c.290C= (p.Thr97=) c.-888+1448G= (n.-888+1448G=) | |
| 17 | g.4932894C>G | CA397315687 | CHRNE,GP1BA | c.290C>G (p.Thr97Ser) c.-888+1448G>C (n.-888+1448G>C) | |
| 17 | g.4932894C>T | CA397315688 | CHRNE,GP1BA | c.290C>T (p.Thr97Ile) c.-888+1448G>A (n.-888+1448G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932895C>A | CA497677556 | CHRNE,GP1BA | c.291C>A (p.Thr97=) c.-888+1447G>T (n.-888+1447G>T) | |
| 17 | g.4932895C= | CA2244625351 | CHRNE,GP1BA | c.291C= (p.Thr97=) c.-888+1447G= (n.-888+1447G=) | |
| 17 | g.4932895C>G | CA497677557 | CHRNE,GP1BA | c.291C>G (p.Thr97=) c.-888+1447G>C (n.-888+1447G>C) | |
| 17 | g.4932895C>T | CA287215907 | CHRNE,GP1BA | c.291C>T (p.Thr97=) c.-888+1447G>A (n.-888+1447G>A) | dbSNP gnomAD v4 |
| 17 | g.4932896C>A | CA397315691 | CHRNE,GP1BA | c.292C>A (p.Leu98Met) c.-888+1446G>T (n.-888+1446G>T) | |
| 17 | g.4932896C>G | CA397315692 | CHRNE,GP1BA | c.292C>G (p.Leu98Val) c.-888+1446G>C (n.-888+1446G>C) | gnomAD v4 |
| 17 | g.4932896C>T | CA497677560 | CHRNE,GP1BA | c.292C>T (p.Leu98=) c.-888+1446G>A (n.-888+1446G>A) | |
| 17 | g.4932897T>A | CA397315697 | CHRNE,GP1BA | c.293T>A (p.Leu98Gln) c.-888+1445A>T (n.-888+1445A>T) | |
| 17 | g.4932897T>C | CA397315698 | CHRNE,GP1BA | c.293T>C (p.Leu98Pro) c.-888+1445A>G (n.-888+1445A>G) | gnomAD v4 |
| 17 | g.4932897T>G | CA397315700 | CHRNE,GP1BA | c.293T>G (p.Leu98Arg) c.-888+1445A>C (n.-888+1445A>C) | |
| 17 | g.4932898G>A | CA497677564 | CHRNE,GP1BA | c.294G>A (p.Leu98=) c.-888+1444C>T (n.-888+1444C>T) | |
| 17 | g.4932898G>C | CA497677561 | CHRNE,GP1BA | c.294G>C (p.Leu98=) c.-888+1444C>G (n.-888+1444C>G) | |
| 17 | g.4932898G>T | CA497677562 | CHRNE,GP1BA | c.294G>T (p.Leu98=) c.-888+1444C>A (n.-888+1444C>A) | |
| 17 | g.4932899G>A | CA397315704 | CHRNE,GP1BA | c.295G>A (p.Asp99Asn) c.-888+1443C>T (n.-888+1443C>T) | gnomAD v4 |
| 17 | g.4932899G>C | CA397315705 | CHRNE,GP1BA | c.295G>C (p.Asp99His) c.-888+1443C>G (n.-888+1443C>G) | gnomAD v4 |
| 17 | g.4932899G>T | CA397315706 | CHRNE,GP1BA | c.295G>T (p.Asp99Tyr) c.-888+1443C>A (n.-888+1443C>A) | |
| 17 | g.4932900A>C | CA397315707 | CHRNE,GP1BA | c.296A>C (p.Asp99Ala) c.-888+1442T>G (n.-888+1442T>G) | |
| 17 | g.4932900A>G | CA397315709 | CHRNE,GP1BA | c.296A>G (p.Asp99Gly) c.-888+1442T>C (n.-888+1442T>C) | |
| 17 | g.4932900A>T | CA397315708 | CHRNE,GP1BA | c.296A>T (p.Asp99Val) c.-888+1442T>A (n.-888+1442T>A) | |
| 17 | g.4932901T>A | CA397315710 | CHRNE,GP1BA | c.297T>A (p.Asp99Glu) c.-888+1441A>T (n.-888+1441A>T) | |
| 17 | g.4932901T>C | CA287215912 | CHRNE,GP1BA | c.297T>C (p.Asp99=) c.-888+1441A>G (n.-888+1441A>G) | dbSNP gnomAD v4 |
| 17 | g.4932901T>G | CA397315712 | CHRNE,GP1BA | c.297T>G (p.Asp99Glu) c.-888+1441A>C (n.-888+1441A>C) | |
| 17 | g.4932901T= | CA2244625352 | CHRNE,GP1BA | c.297T= (p.Asp99=) c.-888+1441A= (n.-888+1441A=) | |
| 17 | g.4932902del | CA2635578682 | CHRNE,GP1BA | c.298del (p.Leu100TyrfsTer12) c.-888+1440del (n.-888+1440del) | gnomAD v4 |
| 17 | g.4932902C>A | CA397315713 | CHRNE,GP1BA | c.298C>A (p.Leu100Ile) c.-888+1440G>T (n.-888+1440G>T) | |
| 17 | g.4932902C>G | CA397315716 | CHRNE,GP1BA | c.298C>G (p.Leu100Val) c.-888+1440G>C (n.-888+1440G>C) | |
| 17 | g.4932902C>T | CA497677570 | CHRNE,GP1BA | c.298C>T (p.Leu100=) c.-888+1440G>A (n.-888+1440G>A) | gnomAD v4 |
| 17 | g.4932903T>A | CA397315719 | CHRNE,GP1BA | c.299T>A (p.Leu100Gln) c.-888+1439A>T (n.-888+1439A>T) | |
| 17 | g.4932903T>C | CA397315720 | CHRNE,GP1BA | c.299T>C (p.Leu100Pro) c.-888+1439A>G (n.-888+1439A>G) | gnomAD v4 |
| 17 | g.4932903T>G | CA397315721 | CHRNE,GP1BA | c.299T>G (p.Leu100Arg) c.-888+1439A>C (n.-888+1439A>C) | |
| 17 | g.4932904A>C | CA497677573 | CHRNE,GP1BA | c.300A>C (p.Leu100=) c.-888+1438T>G (n.-888+1438T>G) | |
| 17 | g.4932904A>G | CA497677571 | CHRNE,GP1BA | c.300A>G (p.Leu100=) c.-888+1438T>C (n.-888+1438T>C) | |
| 17 | g.4932904A>T | CA497677572 | CHRNE,GP1BA | c.300A>T (p.Leu100=) c.-888+1438T>A (n.-888+1438T>A) | |
| 17 | g.4932905T>A | CA287215913 | CHRNE,GP1BA | c.301T>A (p.Ser101Thr) c.-888+1437A>T (n.-888+1437A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932905T>C | CA8314737 | CHRNE,GP1BA | c.301T>C (p.Ser101Pro) c.-888+1437A>G (n.-888+1437A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932905T>G | CA397315727 | CHRNE,GP1BA | c.301T>G (p.Ser101Ala) c.-888+1437A>C (n.-888+1437A>C) | |
| 17 | g.4932905T= | CA2244625353 | CHRNE,GP1BA | c.301T= (p.Ser101=) c.-888+1437A= (n.-888+1437A=) | |
| 17 | g.4932906C>A | CA397315736 | CHRNE,GP1BA | c.302C>A (p.Ser101Tyr) c.-888+1436G>T (n.-888+1436G>T) | |
| 17 | g.4932906C>G | CA397315734 | CHRNE,GP1BA | c.302C>G (p.Ser101Cys) c.-888+1436G>C (n.-888+1436G>C) | |
| 17 | g.4932906C>T | CA397315731 | CHRNE,GP1BA | c.302C>T (p.Ser101Phe) c.-888+1436G>A (n.-888+1436G>A) | gnomAD v4 |
| 17 | g.4932907C>A | CA287215925 | CHRNE,GP1BA | c.303C>A (p.Ser101=) c.-888+1435G>T (n.-888+1435G>T) | dbSNP |
| 17 | g.4932907C= | CA2244625354 | CHRNE,GP1BA | c.303C= (p.Ser101=) c.-888+1435G= (n.-888+1435G=) | |
| 17 | g.4932907C>G | CA497677583 | CHRNE,GP1BA | c.303C>G (p.Ser101=) c.-888+1435G>C (n.-888+1435G>C) | |
| 17 | g.4932907C>T | CA497677586 | CHRNE,GP1BA | c.303C>T (p.Ser101=) c.-888+1435G>A (n.-888+1435G>A) | |
| 17 | g.4932908C>A | CA8314738 | CHRNE,GP1BA | c.304C>A (p.His102Asn) c.-888+1434G>T (n.-888+1434G>T) | dbSNP ExAC |
| 17 | g.4932908C= | CA2244625355 | CHRNE,GP1BA | c.304C= (p.His102=) c.-888+1434G= (n.-888+1434G=) | |
| 17 | g.4932908C>G | CA397315740 | CHRNE,GP1BA | c.304C>G (p.His102Asp) c.-888+1434G>C (n.-888+1434G>C) | |
| 17 | g.4932908C>T | CA397315742 | CHRNE,GP1BA | c.304C>T (p.His102Tyr) c.-888+1434G>A (n.-888+1434G>A) | |
| 17 | g.4932909_4932910insAAAAACCAAACACACCCAACA | CA2808297072 | CHRNE,GP1BA | c.305_306insAAAAACCAAACACACCCAACA (p.Ser101_His102insGlnLysThrLysHisThrGln) c.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG (n.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG) | |
| 17 | g.4932909A>C | CA397315746 | CHRNE,GP1BA | c.305A>C (p.His102Pro) c.-888+1433T>G (n.-888+1433T>G) | |
| 17 | g.4932909A>G | CA397315750 | CHRNE,GP1BA | c.305A>G (p.His102Arg) c.-888+1433T>C (n.-888+1433T>C) | |
| 17 | g.4932909A>T | CA397315753 | CHRNE,GP1BA | c.305A>T (p.His102Leu) c.-888+1433T>A (n.-888+1433T>A) | |
| 17 | g.4932910C>A | CA397315755 | CHRNE,GP1BA | c.306C>A (p.His102Gln) c.-888+1432G>T (n.-888+1432G>T) | dbSNP gnomAD v4 |
| 17 | g.4932910C= | CA2244625356 | CHRNE,GP1BA | c.306C= (p.His102=) c.-888+1432G= (n.-888+1432G=) | |
| 17 | g.4932910C>G | CA397315757 | CHRNE,GP1BA | c.306C>G (p.His102Gln) c.-888+1432G>C (n.-888+1432G>C) | |
| 17 | g.4932910C>T | CA497677591 | CHRNE,GP1BA | c.306C>T (p.His102=) c.-888+1432G>A (n.-888+1432G>A) | gnomAD v4 |
| 17 | g.4932911A>C | CA397315759 | CHRNE,GP1BA | c.307A>C (p.Asn103His) c.-888+1431T>G (n.-888+1431T>G) | |
| 17 | g.4932911A>G | CA397315763 | CHRNE,GP1BA | c.307A>G (p.Asn103Asp) c.-888+1431T>C (n.-888+1431T>C) | gnomAD v4 |
| 17 | g.4932911A>T | CA397315766 | CHRNE,GP1BA | c.307A>T (p.Asn103Tyr) c.-888+1431T>A (n.-888+1431T>A) | |
| 17 | g.4932912A>C | CA397315769 | CHRNE,GP1BA | c.308A>C (p.Asn103Thr) c.-888+1430T>G (n.-888+1430T>G) | |
| 17 | g.4932912A>G | CA397315770 | CHRNE,GP1BA | c.308A>G (p.Asn103Ser) c.-888+1430T>C (n.-888+1430T>C) | ClinVar dbSNP |
| 17 | g.4932912A>T | CA397315772 | CHRNE,GP1BA | c.308A>T (p.Asn103Ile) c.-888+1430T>A (n.-888+1430T>A) | |
| 17 | g.4932913T>A | CA397315777 | CHRNE,GP1BA | c.309T>A (p.Asn103Lys) c.-888+1429A>T (n.-888+1429A>T) | |
| 17 | g.4932913T>C | CA497677592 | CHRNE,GP1BA | c.309T>C (p.Asn103=) c.-888+1429A>G (n.-888+1429A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932913T>G | CA397315776 | CHRNE,GP1BA | c.309T>G (p.Asn103Lys) c.-888+1429A>C (n.-888+1429A>C) | |
| 17 | g.4932913T= | CA2244625357 | CHRNE,GP1BA | c.309T= (p.Asn103=) c.-888+1429A= (n.-888+1429A=) | |
| 17 | g.4932914C>A | CA397315778 | CHRNE,GP1BA | c.310C>A (p.Gln104Lys) c.-888+1428G>T (n.-888+1428G>T) | |
| 17 | g.4932914C>G | CA397315779 | CHRNE,GP1BA | c.310C>G (p.Gln104Glu) c.-888+1428G>C (n.-888+1428G>C) | COSMIC |
| 17 | g.4932914C>T | CA397315782 | CHRNE,GP1BA | c.310C>T (p.Gln104Ter) c.-888+1428G>A (n.-888+1428G>A) | |
| 17 | g.4932915A>C | CA397315783 | CHRNE,GP1BA | c.311A>C (p.Gln104Pro) c.-888+1427T>G (n.-888+1427T>G) | |
| 17 | g.4932915A>G | CA397315789 | CHRNE,GP1BA | c.311A>G (p.Gln104Arg) c.-888+1427T>C (n.-888+1427T>C) | |
| 17 | g.4932915A>T | CA397315791 | CHRNE,GP1BA | c.311A>T (p.Gln104Leu) c.-888+1427T>A (n.-888+1427T>A) | |
| 17 | g.4932916G>A | CA497677599 | CHRNE,GP1BA | c.312G>A (p.Gln104=) c.-888+1426C>T (n.-888+1426C>T) | gnomAD v4 |
| 17 | g.4932916G>C | CA397315795 | CHRNE,GP1BA | c.312G>C (p.Gln104His) c.-888+1426C>G (n.-888+1426C>G) | |
| 17 | g.4932916G>T | CA397315794 | CHRNE,GP1BA | c.312G>T (p.Gln104His) c.-888+1426C>A (n.-888+1426C>A) | |
| 17 | g.4932917C>A | CA397315797 | CHRNE,GP1BA | c.313C>A (p.Leu105Met) c.-888+1425G>T (n.-888+1425G>T) | |
| 17 | g.4932917C>G | CA397315798 | CHRNE,GP1BA | c.313C>G (p.Leu105Val) c.-888+1425G>C (n.-888+1425G>C) | |
| 17 | g.4932917C>T | CA497677603 | CHRNE,GP1BA | c.313C>T (p.Leu105=) c.-888+1425G>A (n.-888+1425G>A) | |
| 17 | g.4932921_4932929del | CA2695224142 | CHRNE,GP1BA | c.317_325del (p.Gln106_Leu108del) c.-888+1417_-888+1425del (n.-888+1417_-888+1425del) | |
| 17 | g.4932918T>A | CA397315801 | CHRNE,GP1BA | c.314T>A (p.Leu105Gln) c.-888+1424A>T (n.-888+1424A>T) | |
| 17 | g.4932918T>C | CA397315805 | CHRNE,GP1BA | c.314T>C (p.Leu105Pro) c.-888+1424A>G (n.-888+1424A>G) | |
| 17 | g.4932918T>G | CA397315809 | CHRNE,GP1BA | c.314T>G (p.Leu105Arg) c.-888+1424A>C (n.-888+1424A>C) | |
| 17 | g.4932919G>A | CA8314739 | CHRNE,GP1BA | c.315G>A (p.Leu105=) c.-888+1423C>T (n.-888+1423C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932919G>C | CA287215940 | CHRNE,GP1BA | c.315G>C (p.Leu105=) c.-888+1423C>G (n.-888+1423C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932919G= | CA2244625358 | CHRNE,GP1BA | c.315G= (p.Leu105=) c.-888+1423C= (n.-888+1423C=) | |
| 17 | g.4932919G>T | CA497677606 | CHRNE,GP1BA | c.315G>T (p.Leu105=) c.-888+1423C>A (n.-888+1423C>A) | |
| 17 | g.4932920C>A | CA397315815 | CHRNE,GP1BA | c.316C>A (p.Gln106Lys) c.-888+1422G>T (n.-888+1422G>T) | COSMIC |
| 17 | g.4932920C= | CA2244625359 | CHRNE,GP1BA | c.316C= (p.Gln106=) c.-888+1422G= (n.-888+1422G=) | |
| 17 | g.4932920C>G | CA397315822 | CHRNE,GP1BA | c.316C>G (p.Gln106Glu) c.-888+1422G>C (n.-888+1422G>C) | ClinVar dbSNP |
| 17 | g.4932920C>T | CA397315818 | CHRNE,GP1BA | c.316C>T (p.Gln106Ter) c.-888+1422G>A (n.-888+1422G>A) | gnomAD v4 |
| 17 | g.4932921A>C | CA397315825 | CHRNE,GP1BA | c.317A>C (p.Gln106Pro) c.-888+1421T>G (n.-888+1421T>G) | |
| 17 | g.4932921A>G | CA397315828 | CHRNE,GP1BA | c.317A>G (p.Gln106Arg) c.-888+1421T>C (n.-888+1421T>C) | |
| 17 | g.4932921A>T | CA397315831 | CHRNE,GP1BA | c.317A>T (p.Gln106Leu) c.-888+1421T>A (n.-888+1421T>A) | |
| 17 | g.4932922A>C | CA397315833 | CHRNE,GP1BA | c.318A>C (p.Gln106His) c.-888+1420T>G (n.-888+1420T>G) | |
| 17 | g.4932922A>G | CA497677612 | CHRNE,GP1BA | c.318A>G (p.Gln106=) c.-888+1420T>C (n.-888+1420T>C) | |
| 17 | g.4932922A>T | CA397315834 | CHRNE,GP1BA | c.318A>T (p.Gln106His) c.-888+1420T>A (n.-888+1420T>A) | |
| 17 | g.4932923A= | CA2244625360 | CHRNE,GP1BA | c.319A= (p.Ser107=) c.-888+1419T= (n.-888+1419T=) | |
| 17 | g.4932923A>C | CA397315837 | CHRNE,GP1BA | c.319A>C (p.Ser107Arg) c.-888+1419T>G (n.-888+1419T>G) | |
| 17 | g.4932923A>G | CA397315840 | CHRNE,GP1BA | c.319A>G (p.Ser107Gly) c.-888+1419T>C (n.-888+1419T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932923A>T | CA397315841 | CHRNE,GP1BA | c.319A>T (p.Ser107Cys) c.-888+1419T>A (n.-888+1419T>A) | |
| 17 | g.4932924G>A | CA397315842 | CHRNE,GP1BA | c.320G>A (p.Ser107Asn) c.-888+1418C>T (n.-888+1418C>T) | |
| 17 | g.4932924G>C | CA397315844 | CHRNE,GP1BA | c.320G>C (p.Ser107Thr) c.-888+1418C>G (n.-888+1418C>G) | |
| 17 | g.4932924G>T | CA397315846 | CHRNE,GP1BA | c.320G>T (p.Ser107Ile) c.-888+1418C>A (n.-888+1418C>A) | |
| 17 | g.4932925C>A | CA397315848 | CHRNE,GP1BA | c.321C>A (p.Ser107Arg) c.-888+1417G>T (n.-888+1417G>T) | |
| 17 | g.4932925C= | CA2244625361 | CHRNE,GP1BA | c.321C= (p.Ser107=) c.-888+1417G= (n.-888+1417G=) | |
| 17 | g.4932925C>G | CA8314740 | CHRNE,GP1BA | c.321C>G (p.Ser107Arg) c.-888+1417G>C (n.-888+1417G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932925C>T | CA497677617 | CHRNE,GP1BA | c.321C>T (p.Ser107=) c.-888+1417G>A (n.-888+1417G>A) | ClinVar |