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.4933584A>C | CA397319450 | CHRNE,GP1BA | c.980A>C (p.Tyr327Ser) c.-888+758T>G (n.-888+758T>G) | |
| 17 | g.4933584A>G | CA397319452 | CHRNE,GP1BA | c.980A>G (p.Tyr327Cys) c.-888+758T>C (n.-888+758T>C) | gnomAD v3 gnomAD v4 |
| 17 | g.4933584A>T | CA397319453 | CHRNE,GP1BA | c.980A>T (p.Tyr327Phe) c.-888+758T>A (n.-888+758T>A) | |
| 17 | g.4933585C>A | CA397319455 | CHRNE,GP1BA | c.981C>A (p.Tyr327Ter) c.-888+757G>T (n.-888+757G>T) | |
| 17 | g.4933585C>G | CA397319458 | CHRNE,GP1BA | c.981C>G (p.Tyr327Ter) c.-888+757G>C (n.-888+757G>C) | |
| 17 | g.4933585C>T | CA497678325 | CHRNE,GP1BA | c.981C>T (p.Tyr327=) c.-888+757G>A (n.-888+757G>A) | |
| 17 | g.4933586T>A | CA397319461 | CHRNE,GP1BA | c.982T>A (p.Ser328Thr) c.-888+756A>T (n.-888+756A>T) | |
| 17 | g.4933586T>C | CA397319464 | CHRNE,GP1BA | c.982T>C (p.Ser328Pro) c.-888+756A>G (n.-888+756A>G) | gnomAD v4 |
| 17 | g.4933586T>G | CA397319462 | CHRNE,GP1BA | c.982T>G (p.Ser328Ala) c.-888+756A>C (n.-888+756A>C) | |
| 17 | g.4933587C>A | CA397319466 | CHRNE,GP1BA | c.983C>A (p.Ser328Ter) c.-888+755G>T (n.-888+755G>T) | gnomAD v4 |
| 17 | g.4933587C= | CA2244625623 | CHRNE,GP1BA | c.983C= (p.Ser328=) c.-888+755G= (n.-888+755G=) | |
| 17 | g.4933587C>G | CA397319469 | CHRNE,GP1BA | c.983C>G (p.Ser328Ter) c.-888+755G>C (n.-888+755G>C) | |
| 17 | g.4933587C>T | CA397319468 | CHRNE,GP1BA | c.983C>T (p.Ser328Leu) c.-888+755G>A (n.-888+755G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933588A= | CA2244625624 | CHRNE,GP1BA | c.984A= (p.Ser328=) c.-888+754T= (n.-888+754T=) | |
| 17 | g.4933588A>C | CA497678329 | CHRNE,GP1BA | c.984A>C (p.Ser328=) c.-888+754T>G (n.-888+754T>G) | |
| 17 | g.4933588A>G | CA497678330 | CHRNE,GP1BA | c.984A>G (p.Ser328=) c.-888+754T>C (n.-888+754T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933588A>T | CA497678331 | CHRNE,GP1BA | c.984A>T (p.Ser328=) c.-888+754T>A (n.-888+754T>A) | |
| 17 | g.4933589T>A | CA397319471 | CHRNE,GP1BA | c.985T>A (p.Trp329Arg) c.-888+753A>T (n.-888+753A>T) | |
| 17 | g.4933589T>C | CA287216808 | CHRNE,GP1BA | c.985T>C (p.Trp329Arg) c.-888+753A>G (n.-888+753A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933589T>G | CA397319472 | CHRNE,GP1BA | c.985T>G (p.Trp329Gly) c.-888+753A>C (n.-888+753A>C) | |
| 17 | g.4933589T= | CA2244625625 | CHRNE,GP1BA | c.985T= (p.Trp329=) c.-888+753A= (n.-888+753A=) | |
| 17 | g.4933590G>A | CA397319473 | CHRNE,GP1BA | c.986G>A (p.Trp329Ter) c.-888+752C>T (n.-888+752C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933590G>C | CA397319476 | CHRNE,GP1BA | c.986G>C (p.Trp329Ser) c.-888+752C>G (n.-888+752C>G) | gnomAD v4 |
| 17 | g.4933590G= | CA2244625626 | CHRNE,GP1BA | c.986G= (p.Trp329=) c.-888+752C= (n.-888+752C=) | |
| 17 | g.4933590G>T | CA397319475 | CHRNE,GP1BA | c.986G>T (p.Trp329Leu) c.-888+752C>A (n.-888+752C>A) | |
| 17 | g.4933591G>A | CA397319477 | CHRNE,GP1BA | c.987G>A (p.Trp329Ter) c.-888+751C>T (n.-888+751C>T) | |
| 17 | g.4933591G>C | CA397319480 | CHRNE,GP1BA | c.987G>C (p.Trp329Cys) c.-888+751C>G (n.-888+751C>G) | |
| 17 | g.4933591G>T | CA397319479 | CHRNE,GP1BA | c.987G>T (p.Trp329Cys) c.-888+751C>A (n.-888+751C>A) | |
| 17 | g.4933592del | CA2566748583 | CHRNE,GP1BA | c.988del (p.Ser330ProfsTer5) c.-888+750del (n.-888+750del) | |
| 17 | g.4933592T>A | CA397319482 | CHRNE,GP1BA | c.988T>A (p.Ser330Thr) c.-888+750A>T (n.-888+750A>T) | |
| 17 | g.4933592T>C | CA397319486 | CHRNE,GP1BA | c.988T>C (p.Ser330Pro) c.-888+750A>G (n.-888+750A>G) | gnomAD v4 |
| 17 | g.4933592T>G | CA397319484 | CHRNE,GP1BA | c.988T>G (p.Ser330Ala) c.-888+750A>C (n.-888+750A>C) | |
| 17 | g.4933593C>A | CA397319488 | CHRNE,GP1BA | c.989C>A (p.Ser330Tyr) c.-888+749G>T (n.-888+749G>T) | |
| 17 | g.4933593C= | CA2244625627 | CHRNE,GP1BA | c.989C= (p.Ser330=) c.-888+749G= (n.-888+749G=) | |
| 17 | g.4933593C>G | CA397319489 | CHRNE,GP1BA | c.989C>G (p.Ser330Cys) c.-888+749G>C (n.-888+749G>C) | gnomAD v4 |
| 17 | g.4933593C>T | CA397319491 | CHRNE,GP1BA | c.989C>T (p.Ser330Phe) c.-888+749G>A (n.-888+749G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933594C>A | CA497678339 | CHRNE,GP1BA | c.990C>A (p.Ser330=) c.-888+748G>T (n.-888+748G>T) | |
| 17 | g.4933594C>G | CA497678340 | CHRNE,GP1BA | c.990C>G (p.Ser330=) c.-888+748G>C (n.-888+748G>C) | |
| 17 | g.4933594C>T | CA497678343 | CHRNE,GP1BA | c.990C>T (p.Ser330=) c.-888+748G>A (n.-888+748G>A) | gnomAD v4 |
| 17 | g.4933595A= | CA2244625628 | CHRNE,GP1BA | c.991A= (p.Thr331=) c.-888+747T= (n.-888+747T=) | |
| 17 | g.4933595A>C | CA397319492 | CHRNE,GP1BA | c.991A>C (p.Thr331Pro) c.-888+747T>G (n.-888+747T>G) | dbSNP gnomAD v4 |
| 17 | g.4933595A>G | CA397319493 | CHRNE,GP1BA | c.991A>G (p.Thr331Ala) c.-888+747T>C (n.-888+747T>C) | |
| 17 | g.4933595A>T | CA397319494 | CHRNE,GP1BA | c.991A>T (p.Thr331Ser) c.-888+747T>A (n.-888+747T>A) | |
| 17 | g.4933596C>A | CA397319496 | CHRNE,GP1BA | c.992C>A (p.Thr331Asn) c.-888+746G>T (n.-888+746G>T) | |
| 17 | g.4933596C>G | CA397319497 | CHRNE,GP1BA | c.992C>G (p.Thr331Ser) c.-888+746G>C (n.-888+746G>C) | |
| 17 | g.4933596C>T | CA397319499 | CHRNE,GP1BA | c.992C>T (p.Thr331Ile) c.-888+746G>A (n.-888+746G>A) | |
| 17 | g.4933597T>A | CA497678347 | CHRNE,GP1BA | c.993T>A (p.Thr331=) c.-888+745A>T (n.-888+745A>T) | |
| 17 | g.4933597T>C | CA497678348 | CHRNE,GP1BA | c.993T>C (p.Thr331=) c.-888+745A>G (n.-888+745A>G) | |
| 17 | g.4933597T>G | CA497678350 | CHRNE,GP1BA | c.993T>G (p.Thr331=) c.-888+745A>C (n.-888+745A>C) | |
| 17 | g.4933598G>A | CA397319501 | CHRNE,GP1BA | c.994G>A (p.Ala332Thr) c.-888+744C>T (n.-888+744C>T) | |
| 17 | g.4933598G>C | CA397319503 | CHRNE,GP1BA | c.994G>C (p.Ala332Pro) c.-888+744C>G (n.-888+744C>G) | |
| 17 | g.4933598G>T | CA397319505 | CHRNE,GP1BA | c.994G>T (p.Ala332Ser) c.-888+744C>A (n.-888+744C>A) | |
| 17 | g.4933599C>A | CA397319510 | CHRNE,GP1BA | c.995C>A (p.Ala332Asp) c.-888+743G>T (n.-888+743G>T) | |
| 17 | g.4933599C>G | CA397319507 | CHRNE,GP1BA | c.995C>G (p.Ala332Gly) c.-888+743G>C (n.-888+743G>C) | |
| 17 | g.4933599C>T | CA397319508 | CHRNE,GP1BA | c.995C>T (p.Ala332Val) c.-888+743G>A (n.-888+743G>A) | |
| 17 | g.4933600T>A | CA497678353 | CHRNE,GP1BA | c.996T>A (p.Ala332=) c.-888+742A>T (n.-888+742A>T) | |
| 17 | g.4933600T>C | CA497678356 | CHRNE,GP1BA | c.996T>C (p.Ala332=) c.-888+742A>G (n.-888+742A>G) | gnomAD v4 |
| 17 | g.4933600T>G | CA497678358 | CHRNE,GP1BA | c.996T>G (p.Ala332=) c.-888+742A>C (n.-888+742A>C) | |
| 17 | g.4933601T>A | CA397319512 | CHRNE,GP1BA | c.997T>A (p.Ser333Thr) c.-888+741A>T (n.-888+741A>T) | |
| 17 | g.4933601T>C | CA397319514 | CHRNE,GP1BA | c.997T>C (p.Ser333Pro) c.-888+741A>G (n.-888+741A>G) | |
| 17 | g.4933601T>G | CA397319515 | CHRNE,GP1BA | c.997T>G (p.Ser333Ala) c.-888+741A>C (n.-888+741A>C) | |
| 17 | g.4933602C>A | CA397319518 | CHRNE,GP1BA | c.998C>A (p.Ser333Tyr) c.-888+740G>T (n.-888+740G>T) | |
| 17 | g.4933602C= | CA2244625629 | CHRNE,GP1BA | c.998C= (p.Ser333=) c.-888+740G= (n.-888+740G=) | |
| 17 | g.4933602C>G | CA397319519 | CHRNE,GP1BA | c.998C>G (p.Ser333Cys) c.-888+740G>C (n.-888+740G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933602C>T | CA397319521 | CHRNE,GP1BA | c.998C>T (p.Ser333Phe) c.-888+740G>A (n.-888+740G>A) | |
| 17 | g.4933603T>A | CA497678360 | CHRNE,GP1BA | c.999T>A (p.Ser333=) c.-888+739A>T (n.-888+739A>T) | |
| 17 | g.4933603T>C | CA497678361 | CHRNE,GP1BA | c.999T>C (p.Ser333=) c.-888+739A>G (n.-888+739A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933603T>G | CA497678362 | CHRNE,GP1BA | c.999T>G (p.Ser333=) c.-888+739A>C (n.-888+739A>C) | |
| 17 | g.4933603T= | CA2244625630 | CHRNE,GP1BA | c.999T= (p.Ser333=) c.-888+739A= (n.-888+739A=) | |
| 17 | g.4933604C>A | CA397319522 | CHRNE,GP1BA | c.1000C>A (p.Leu334Ile) c.-888+738G>T (n.-888+738G>T) | |
| 17 | g.4933604C= | CA2244625631 | CHRNE,GP1BA | c.1000C= (p.Leu334=) c.-888+738G= (n.-888+738G=) | |
| 17 | g.4933604C>G | CA287216817 | CHRNE,GP1BA | c.1000C>G (p.Leu334Val) c.-888+738G>C (n.-888+738G>C) | dbSNP gnomAD v4 |
| 17 | g.4933604C>T | CA497678363 | CHRNE,GP1BA | c.1000C>T (p.Leu334=) c.-888+738G>A (n.-888+738G>A) | COSMIC |
| 17 | g.4933605T>A | CA397319524 | CHRNE,GP1BA | c.1001T>A (p.Leu334Gln) c.-888+737A>T (n.-888+737A>T) | |
| 17 | g.4933605T>C | CA397319525 | CHRNE,GP1BA | c.1001T>C (p.Leu334Pro) c.-888+737A>G (n.-888+737A>G) | gnomAD v4 |
| 17 | g.4933605T>G | CA397319526 | CHRNE,GP1BA | c.1001T>G (p.Leu334Arg) c.-888+737A>C (n.-888+737A>C) | |
| 17 | g.4933606A>C | CA497678369 | CHRNE,GP1BA | c.1002A>C (p.Leu334=) c.-888+736T>G (n.-888+736T>G) | |
| 17 | g.4933606A>G | CA497678371 | CHRNE,GP1BA | c.1002A>G (p.Leu334=) c.-888+736T>C (n.-888+736T>C) | |
| 17 | g.4933606A>T | CA497678370 | CHRNE,GP1BA | c.1002A>T (p.Leu334=) c.-888+736T>A (n.-888+736T>A) | |
| 17 | g.4933607G>A | CA397319532 | CHRNE,GP1BA | c.1003G>A (p.Asp335Asn) c.-888+735C>T (n.-888+735C>T) | |
| 17 | g.4933607G>C | CA397319530 | CHRNE,GP1BA | c.1003G>C (p.Asp335His) c.-888+735C>G (n.-888+735C>G) | |
| 17 | g.4933607G>T | CA397319528 | CHRNE,GP1BA | c.1003G>T (p.Asp335Tyr) c.-888+735C>A (n.-888+735C>A) | |
| 17 | g.4933608A>C | CA397319536 | CHRNE,GP1BA | c.1004A>C (p.Asp335Ala) c.-888+734T>G (n.-888+734T>G) | |
| 17 | g.4933608A>G | CA397319533 | CHRNE,GP1BA | c.1004A>G (p.Asp335Gly) c.-888+734T>C (n.-888+734T>C) | gnomAD v4 |
| 17 | g.4933608A>T | CA397319534 | CHRNE,GP1BA | c.1004A>T (p.Asp335Val) c.-888+734T>A (n.-888+734T>A) | |
| 17 | g.4933609C>A | CA397319538 | CHRNE,GP1BA | c.1005C>A (p.Asp335Glu) c.-888+733G>T (n.-888+733G>T) | |
| 17 | g.4933609C= | CA2244625632 | CHRNE,GP1BA | c.1005C= (p.Asp335=) c.-888+733G= (n.-888+733G=) | |
| 17 | g.4933609C>G | CA397319540 | CHRNE,GP1BA | c.1005C>G (p.Asp335Glu) c.-888+733G>C (n.-888+733G>C) | dbSNP |
| 17 | g.4933609C>T | CA497678376 | CHRNE,GP1BA | c.1005C>T (p.Asp335=) c.-888+733G>A (n.-888+733G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933610A= | CA2244625633 | CHRNE,GP1BA | c.1006A= (p.Ser336=) c.-888+732T= (n.-888+732T=) | |
| 17 | g.4933610A>C | CA397319542 | CHRNE,GP1BA | c.1006A>C (p.Ser336Arg) c.-888+732T>G (n.-888+732T>G) | |
| 17 | g.4933610A>G | CA397319544 | CHRNE,GP1BA | c.1006A>G (p.Ser336Gly) c.-888+732T>C (n.-888+732T>C) | dbSNP |
| 17 | g.4933610A>T | CA397319545 | CHRNE,GP1BA | c.1006A>T (p.Ser336Cys) c.-888+732T>A (n.-888+732T>A) | |
| 17 | g.4933611G>A | CA397319546 | CHRNE,GP1BA | c.1007G>A (p.Ser336Asn) c.-888+731C>T (n.-888+731C>T) | dbSNP |
| 17 | g.4933611G>C | CA397319548 | CHRNE,GP1BA | c.1007G>C (p.Ser336Thr) c.-888+731C>G (n.-888+731C>G) | |
| 17 | g.4933611G= | CA2244625634 | CHRNE,GP1BA | c.1007G= (p.Ser336=) c.-888+731C= (n.-888+731C=) | |
| 17 | g.4933611G>T | CA397319550 | CHRNE,GP1BA | c.1007G>T (p.Ser336Ile) c.-888+731C>A (n.-888+731C>A) | |
| 17 | g.4933612C>A | CA397319552 | CHRNE,GP1BA | c.1008C>A (p.Ser336Arg) c.-888+730G>T (n.-888+730G>T) | |
| 17 | g.4933612C= | CA2244625635 | CHRNE,GP1BA | c.1008C= (p.Ser336=) c.-888+730G= (n.-888+730G=) | |
| 17 | g.4933612C>G | CA8314878 | CHRNE,GP1BA | c.1008C>G (p.Ser336Arg) c.-888+730G>C (n.-888+730G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933612C>T | CA8314877 | CHRNE,GP1BA | c.1008C>T (p.Ser336=) c.-888+730G>A (n.-888+730G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933613C>A | CA397319557 | CHRNE,GP1BA | c.1009C>A (p.Gln337Lys) c.-888+729G>T (n.-888+729G>T) | |
| 17 | g.4933613C= | CA2244625637 | CHRNE,GP1BA | c.1009C= (p.Gln337=) c.-888+729G= (n.-888+729G=) | |
| 17 | g.4933613C>G | CA397319554 | CHRNE,GP1BA | c.1009C>G (p.Gln337Glu) c.-888+729G>C (n.-888+729G>C) | |
| 17 | g.4933613C>T | CA397319555 | CHRNE,GP1BA | c.1009C>T (p.Gln337Ter) c.-888+729G>A (n.-888+729G>A) | dbSNP gnomAD v2 |
| 17 | g.4933613_4933614delinsCA | CA2244625636 | CHRNE,GP1BA | c.1009_1010delinsCA (p.Gln337=) c.-888+728_-888+729delinsTG (n.-888+728_-888+729delinsTG) | |
| 17 | g.4933614A>C | CA397319559 | CHRNE,GP1BA | c.1010A>C (p.Gln337Pro) c.-888+728T>G (n.-888+728T>G) | |
| 17 | g.4933614A>G | CA397319561 | CHRNE,GP1BA | c.1010A>G (p.Gln337Arg) c.-888+728T>C (n.-888+728T>C) | |
| 17 | g.4933614A>T | CA397319562 | CHRNE,GP1BA | c.1010A>T (p.Gln337Leu) c.-888+728T>A (n.-888+728T>A) | |
| 17 | g.4933616dup | CA2695224150 | CHRNE,GP1BA | c.1012dup (p.Met338AsnfsTer13) c.-888+728dup (n.-888+728dup) | |
| 17 | g.4933616del | CA8314879 | CHRNE,GP1BA | c.1012del (p.Met338CysfsTer?) c.-888+728del (n.-888+728del) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933615A= | CA2244625638 | CHRNE,GP1BA | c.1011A= (p.Gln337=) c.-888+727T= (n.-888+727T=) | |
| 17 | g.4933615A>C | CA397319563 | CHRNE,GP1BA | c.1011A>C (p.Gln337His) c.-888+727T>G (n.-888+727T>G) | |
| 17 | g.4933615A>G | CA497678387 | CHRNE,GP1BA | c.1011A>G (p.Gln337=) c.-888+727T>C (n.-888+727T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933615A>T | CA397319564 | CHRNE,GP1BA | c.1011A>T (p.Gln337His) c.-888+727T>A (n.-888+727T>A) | |
| 17 | g.4933616A= | CA2244625639 | CHRNE,GP1BA | c.1012A= (p.Met338=) c.-888+726T= (n.-888+726T=) | |
| 17 | g.4933616A>C | CA397319565 | CHRNE,GP1BA | c.1012A>C (p.Met338Leu) c.-888+726T>G (n.-888+726T>G) | |
| 17 | g.4933616A>G | CA287216837 | CHRNE,GP1BA | c.1012A>G (p.Met338Val) c.-888+726T>C (n.-888+726T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933616A>T | CA8314880 | CHRNE,GP1BA | c.1012A>T (p.Met338Leu) c.-888+726T>A (n.-888+726T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933617T>A | CA397319568 | CHRNE,GP1BA | c.1013T>A (p.Met338Lys) c.-888+725A>T (n.-888+725A>T) | gnomAD v4 |
| 17 | g.4933617T>C | CA397319571 | CHRNE,GP1BA | c.1013T>C (p.Met338Thr) c.-888+725A>G (n.-888+725A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933617T>G | CA397319572 | CHRNE,GP1BA | c.1013T>G (p.Met338Arg) c.-888+725A>C (n.-888+725A>C) | |
| 17 | g.4933617T= | CA2244625640 | CHRNE,GP1BA | c.1013T= (p.Met338=) c.-888+725A= (n.-888+725A=) | |
| 17 | g.4933618G>A | CA397319578 | CHRNE,GP1BA | c.1014G>A (p.Met338Ile) c.-888+724C>T (n.-888+724C>T) | |
| 17 | g.4933618G>C | CA397319576 | CHRNE,GP1BA | c.1014G>C (p.Met338Ile) c.-888+724C>G (n.-888+724C>G) | |
| 17 | g.4933618G= | CA2244625641 | CHRNE,GP1BA | c.1014G= (p.Met338=) c.-888+724C= (n.-888+724C=) | |
| 17 | g.4933618G>T | CA397319574 | CHRNE,GP1BA | c.1014G>T (p.Met338Ile) c.-888+724C>A (n.-888+724C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933619C>A | CA397319580 | CHRNE,GP1BA | c.1015C>A (p.Pro339Thr) c.-888+723G>T (n.-888+723G>T) | dbSNP gnomAD v4 |
| 17 | g.4933619C= | CA2244625642 | CHRNE,GP1BA | c.1015C= (p.Pro339=) c.-888+723G= (n.-888+723G=) | |
| 17 | g.4933619C>G | CA397319583 | CHRNE,GP1BA | c.1015C>G (p.Pro339Ala) c.-888+723G>C (n.-888+723G>C) | |
| 17 | g.4933619C>T | CA397319588 | CHRNE,GP1BA | c.1015C>T (p.Pro339Ser) c.-888+723G>A (n.-888+723G>A) | dbSNP |
| 17 | g.4933620C>A | CA397319592 | CHRNE,GP1BA | c.1016C>A (p.Pro339His) c.-888+722G>T (n.-888+722G>T) | |
| 17 | g.4933620C>G | CA397319595 | CHRNE,GP1BA | c.1016C>G (p.Pro339Arg) c.-888+722G>C (n.-888+722G>C) | |
| 17 | g.4933620C>T | CA397319597 | CHRNE,GP1BA | c.1016C>T (p.Pro339Leu) c.-888+722G>A (n.-888+722G>A) | gnomAD v4 |
| 17 | g.4933626_4933628del | CA2576136024 | CHRNE,GP1BA | c.1022_1024del (p.Ser341del) c.-888+720_-888+722del (n.-888+720_-888+722del) | |
| 17 | g.4933621C>A | CA497678396 | CHRNE,GP1BA | c.1017C>A (p.Pro339=) c.-888+721G>T (n.-888+721G>T) | |
| 17 | g.4933621C>G | CA497678398 | CHRNE,GP1BA | c.1017C>G (p.Pro339=) c.-888+721G>C (n.-888+721G>C) | |
| 17 | g.4933621C>T | CA497678400 | CHRNE,GP1BA | c.1017C>T (p.Pro339=) c.-888+721G>A (n.-888+721G>A) | |
| 17 | g.4933622T>A | CA397319604 | CHRNE,GP1BA | c.1018T>A (p.Ser340Thr) c.-888+720A>T (n.-888+720A>T) | |
| 17 | g.4933622T>C | CA397319603 | CHRNE,GP1BA | c.1018T>C (p.Ser340Pro) c.-888+720A>G (n.-888+720A>G) | |
| 17 | g.4933622T>G | CA397319600 | CHRNE,GP1BA | c.1018T>G (p.Ser340Ala) c.-888+720A>C (n.-888+720A>C) | |
| 17 | g.4933623C>A | CA397319606 | CHRNE,GP1BA | c.1019C>A (p.Ser340Tyr) c.-888+719G>T (n.-888+719G>T) | |
| 17 | g.4933623C>G | CA397319609 | CHRNE,GP1BA | c.1019C>G (p.Ser340Cys) c.-888+719G>C (n.-888+719G>C) | |
| 17 | g.4933623C>T | CA397319611 | CHRNE,GP1BA | c.1019C>T (p.Ser340Phe) c.-888+719G>A (n.-888+719G>A) | |
| 17 | g.4933624C>A | CA497678404 | CHRNE,GP1BA | c.1020C>A (p.Ser340=) c.-888+718G>T (n.-888+718G>T) | gnomAD v4 |
| 17 | g.4933624C>G | CA497678405 | CHRNE,GP1BA | c.1020C>G (p.Ser340=) c.-888+718G>C (n.-888+718G>C) | |
| 17 | g.4933624C>T | CA497678407 | CHRNE,GP1BA | c.1020C>T (p.Ser340=) c.-888+718G>A (n.-888+718G>A) | gnomAD v4 |
| 17 | g.4933625T>A | CA397319613 | CHRNE,GP1BA | c.1021T>A (p.Ser341Thr) c.-888+717A>T (n.-888+717A>T) | |
| 17 | g.4933625T>C | CA8314881 | CHRNE,GP1BA | c.1021T>C (p.Ser341Pro) c.-888+717A>G (n.-888+717A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933625T>G | CA397319617 | CHRNE,GP1BA | c.1021T>G (p.Ser341Ala) c.-888+717A>C (n.-888+717A>C) | |
| 17 | g.4933625T= | CA2244625643 | CHRNE,GP1BA | c.1021T= (p.Ser341=) c.-888+717A= (n.-888+717A=) | |
| 17 | g.4933626C>A | CA397319620 | CHRNE,GP1BA | c.1022C>A (p.Ser341Tyr) c.-888+716G>T (n.-888+716G>T) | |
| 17 | g.4933626C>G | CA397319623 | CHRNE,GP1BA | c.1022C>G (p.Ser341Cys) c.-888+716G>C (n.-888+716G>C) | |
| 17 | g.4933626C>T | CA397319621 | CHRNE,GP1BA | c.1022C>T (p.Ser341Phe) c.-888+716G>A (n.-888+716G>A) | |
| 17 | g.4933627C>A | CA497678416 | CHRNE,GP1BA | c.1023C>A (p.Ser341=) c.-888+715G>T (n.-888+715G>T) | |
| 17 | g.4933627C>G | CA497678413 | CHRNE,GP1BA | c.1023C>G (p.Ser341=) c.-888+715G>C (n.-888+715G>C) | |
| 17 | g.4933627C>T | CA497678415 | CHRNE,GP1BA | c.1023C>T (p.Ser341=) c.-888+715G>A (n.-888+715G>A) | gnomAD v4 |
| 17 | g.4933628T>A | CA397319625 | CHRNE,GP1BA | c.1024T>A (p.Leu342Met) c.-888+714A>T (n.-888+714A>T) | |
| 17 | g.4933628T>C | CA497678417 | CHRNE,GP1BA | c.1024T>C (p.Leu342=) c.-888+714A>G (n.-888+714A>G) | dbSNP |
| 17 | g.4933628T>G | CA397319628 | CHRNE,GP1BA | c.1024T>G (p.Leu342Val) c.-888+714A>C (n.-888+714A>C) | |
| 17 | g.4933629T>A | CA397319629 | CHRNE,GP1BA | c.1025T>A (p.Leu342Ter) c.-888+713A>T (n.-888+713A>T) | |
| 17 | g.4933629T>C | CA397319630 | CHRNE,GP1BA | c.1025T>C (p.Leu342Ser) c.-888+713A>G (n.-888+713A>G) | |
| 17 | g.4933629T>G | CA397319631 | CHRNE,GP1BA | c.1025T>G (p.Leu342Trp) c.-888+713A>C (n.-888+713A>C) | |
| 17 | g.4933630G>A | CA8314882 | CHRNE,GP1BA | c.1026G>A (p.Leu342=) c.-888+712C>T (n.-888+712C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933630G>C | CA397319632 | CHRNE,GP1BA | c.1026G>C (p.Leu342Phe) c.-888+712C>G (n.-888+712C>G) | |
| 17 | g.4933630G= | CA2244625644 | CHRNE,GP1BA | c.1026G= (p.Leu342=) c.-888+712C= (n.-888+712C=) | |
| 17 | g.4933630G>T | CA397319633 | CHRNE,GP1BA | c.1026G>T (p.Leu342Phe) c.-888+712C>A (n.-888+712C>A) | |
| 17 | g.4933630_4933631delinsGC | CA2244625645 | CHRNE,GP1BA | c.1026_1027delinsGC (p.Leu342=) c.-888+711_-888+712delinsGC (n.-888+711_-888+712delinsGC) | |
| 17 | g.4933631del | CA2244625646 | CHRNE,GP1BA | c.1027del (p.His343IlefsTer?) c.-888+711del (n.-888+711del) | dbSNP |
| 17 | g.4933631C>A | CA397319634 | CHRNE,GP1BA | c.1027C>A (p.His343Asn) c.-888+711G>T (n.-888+711G>T) | |
| 17 | g.4933631C= | CA2244625647 | CHRNE,GP1BA | c.1027C= (p.His343=) c.-888+711G= (n.-888+711G=) | |
| 17 | g.4933631C>G | CA397319635 | CHRNE,GP1BA | c.1027C>G (p.His343Asp) c.-888+711G>C (n.-888+711G>C) | |
| 17 | g.4933631C>T | CA397319636 | CHRNE,GP1BA | c.1027C>T (p.His343Tyr) c.-888+711G>A (n.-888+711G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933632A>C | CA397319640 | CHRNE,GP1BA | c.1028A>C (p.His343Pro) c.-888+710T>G (n.-888+710T>G) | |
| 17 | g.4933632A>G | CA397319638 | CHRNE,GP1BA | c.1028A>G (p.His343Arg) c.-888+710T>C (n.-888+710T>C) | |
| 17 | g.4933632A>T | CA397319639 | CHRNE,GP1BA | c.1028A>T (p.His343Leu) c.-888+710T>A (n.-888+710T>A) | |
| 17 | g.4933633T>A | CA397319642 | CHRNE,GP1BA | c.1029T>A (p.His343Gln) c.-888+709A>T (n.-888+709A>T) | gnomAD v4 |
| 17 | g.4933633T>C | CA8314883 | CHRNE,GP1BA | c.1029T>C (p.His343=) c.-888+709A>G (n.-888+709A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933633T>G | CA397319645 | CHRNE,GP1BA | c.1029T>G (p.His343Gln) c.-888+709A>C (n.-888+709A>C) | |
| 17 | g.4933633T= | CA2244625648 | CHRNE,GP1BA | c.1029T= (p.His343=) c.-888+709A= (n.-888+709A=) | |
| 17 | g.4933634C>A | CA397319647 | CHRNE,GP1BA | c.1030C>A (p.Pro344Thr) c.-888+708G>T (n.-888+708G>T) | dbSNP |
| 17 | g.4933634C= | CA2244625649 | CHRNE,GP1BA | c.1030C= (p.Pro344=) c.-888+708G= (n.-888+708G=) | |
| 17 | g.4933634C>G | CA397319650 | CHRNE,GP1BA | c.1030C>G (p.Pro344Ala) c.-888+708G>C (n.-888+708G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933634C>T | CA8314884 | CHRNE,GP1BA | c.1030C>T (p.Pro344Ser) c.-888+708G>A (n.-888+708G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933635C>A | CA397319655 | CHRNE,GP1BA | c.1031C>A (p.Pro344Gln) c.-888+707G>T (n.-888+707G>T) | |
| 17 | g.4933635C>G | CA397319657 | CHRNE,GP1BA | c.1031C>G (p.Pro344Arg) c.-888+707G>C (n.-888+707G>C) | |
| 17 | g.4933635C>T | CA397319659 | CHRNE,GP1BA | c.1031C>T (p.Pro344Leu) c.-888+707G>A (n.-888+707G>A) | |
| 17 | g.4933636A>C | CA497678422 | CHRNE,GP1BA | c.1032A>C (p.Pro344=) c.-888+706T>G (n.-888+706T>G) | |
| 17 | g.4933636A>G | CA497678423 | CHRNE,GP1BA | c.1032A>G (p.Pro344=) c.-888+706T>C (n.-888+706T>C) | |
| 17 | g.4933636A>T | CA497678424 | CHRNE,GP1BA | c.1032A>T (p.Pro344=) c.-888+706T>A (n.-888+706T>A) | |
| 17 | g.4933637A>C | CA397319663 | CHRNE,GP1BA | c.1033A>C (p.Thr345Pro) c.-888+705T>G (n.-888+705T>G) | |
| 17 | g.4933637A>G | CA397319665 | CHRNE,GP1BA | c.1033A>G (p.Thr345Ala) c.-888+705T>C (n.-888+705T>C) | |
| 17 | g.4933637A>T | CA397319667 | CHRNE,GP1BA | c.1033A>T (p.Thr345Ser) c.-888+705T>A (n.-888+705T>A) | |
| 17 | g.4933638C>A | CA397319674 | CHRNE,GP1BA | c.1034C>A (p.Thr345Lys) c.-888+704G>T (n.-888+704G>T) | |
| 17 | g.4933638C>G | CA397319672 | CHRNE,GP1BA | c.1034C>G (p.Thr345Arg) c.-888+704G>C (n.-888+704G>C) | |
| 17 | g.4933638C>T | CA397319669 | CHRNE,GP1BA | c.1034C>T (p.Thr345Ile) c.-888+704G>A (n.-888+704G>A) | |
| 17 | g.4933639A= | CA2244625650 | CHRNE,GP1BA | c.1035A= (p.Thr345=) c.-888+703T= (n.-888+703T=) | |
| 17 | g.4933639A>C | CA497678426 | CHRNE,GP1BA | c.1035A>C (p.Thr345=) c.-888+703T>G (n.-888+703T>G) | |
| 17 | g.4933639A>G | CA8314885 | CHRNE,GP1BA | c.1035A>G (p.Thr345=) c.-888+703T>C (n.-888+703T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933639A>T | CA497678427 | CHRNE,GP1BA | c.1035A>T (p.Thr345=) c.-888+703T>A (n.-888+703T>A) | |
| 17 | g.4933640C>A | CA397319678 | CHRNE,GP1BA | c.1036C>A (p.Gln346Lys) c.-888+702G>T (n.-888+702G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933640C= | CA2244625651 | CHRNE,GP1BA | c.1036C= (p.Gln346=) c.-888+702G= (n.-888+702G=) | |
| 17 | g.4933640C>G | CA397319679 | CHRNE,GP1BA | c.1036C>G (p.Gln346Glu) c.-888+702G>C (n.-888+702G>C) | gnomAD v4 |
| 17 | g.4933640C>T | CA397319681 | CHRNE,GP1BA | c.1036C>T (p.Gln346Ter) c.-888+702G>A (n.-888+702G>A) | |
| 17 | g.4933641A= | CA2244625652 | CHRNE,GP1BA | c.1037A= (p.Gln346=) c.-888+701T= (n.-888+701T=) | |
| 17 | g.4933641A>C | CA397319685 | CHRNE,GP1BA | c.1037A>C (p.Gln346Pro) c.-888+701T>G (n.-888+701T>G) | |
| 17 | g.4933641A>G | CA397319687 | CHRNE,GP1BA | c.1037A>G (p.Gln346Arg) c.-888+701T>C (n.-888+701T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933641A>T | CA397319689 | CHRNE,GP1BA | c.1037A>T (p.Gln346Leu) c.-888+701T>A (n.-888+701T>A) | dbSNP |
| 17 | g.4933642A>C | CA397319691 | CHRNE,GP1BA | c.1038A>C (p.Gln346His) c.-888+700T>G (n.-888+700T>G) | |
| 17 | g.4933642A>G | CA497678432 | CHRNE,GP1BA | c.1038A>G (p.Gln346=) c.-888+700T>C (n.-888+700T>C) | |
| 17 | g.4933642A>T | CA397319694 | CHRNE,GP1BA | c.1038A>T (p.Gln346His) c.-888+700T>A (n.-888+700T>A) | |
| 17 | g.4933643G>A | CA397319697 | CHRNE,GP1BA | c.1039G>A (p.Glu347Lys) c.-888+699C>T (n.-888+699C>T) | |
| 17 | g.4933643G>C | CA8314886 | CHRNE,GP1BA | c.1039G>C (p.Glu347Gln) c.-888+699C>G (n.-888+699C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933643G= | CA2244625653 | CHRNE,GP1BA | c.1039G= (p.Glu347=) c.-888+699C= (n.-888+699C=) | |
| 17 | g.4933643G>T | CA397319701 | CHRNE,GP1BA | c.1039G>T (p.Glu347Ter) c.-888+699C>A (n.-888+699C>A) | |
| 17 | g.4933644A>C | CA397319704 | CHRNE,GP1BA | c.1040A>C (p.Glu347Ala) c.-888+698T>G (n.-888+698T>G) | |
| 17 | g.4933644A>G | CA397319708 | CHRNE,GP1BA | c.1040A>G (p.Glu347Gly) c.-888+698T>C (n.-888+698T>C) | |
| 17 | g.4933644A>T | CA397319706 | CHRNE,GP1BA | c.1040A>T (p.Glu347Val) c.-888+698T>A (n.-888+698T>A) | |
| 17 | g.4933645A= | CA2244625654 | CHRNE,GP1BA | c.1041A= (p.Glu347=) c.-888+697T= (n.-888+697T=) | |
| 17 | g.4933645A>C | CA397319710 | CHRNE,GP1BA | c.1041A>C (p.Glu347Asp) c.-888+697T>G (n.-888+697T>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933645A>G | CA497678434 | CHRNE,GP1BA | c.1041A>G (p.Glu347=) c.-888+697T>C (n.-888+697T>C) | |
| 17 | g.4933645A>T | CA397319712 | CHRNE,GP1BA | c.1041A>T (p.Glu347Asp) c.-888+697T>A (n.-888+697T>A) | |
| 17 | g.4933646T>A | CA397319715 | CHRNE,GP1BA | c.1042T>A (p.Ser348Thr) c.-888+696A>T (n.-888+696A>T) | |
| 17 | g.4933646T>C | CA397319718 | CHRNE,GP1BA | c.1042T>C (p.Ser348Pro) c.-888+696A>G (n.-888+696A>G) | |
| 17 | g.4933646T>G | CA397319719 | CHRNE,GP1BA | c.1042T>G (p.Ser348Ala) c.-888+696A>C (n.-888+696A>C) | |
| 17 | g.4933646_4933647delinsTC | CA2244625655 | CHRNE,GP1BA | c.1042_1043delinsTC (p.Ser348=) c.-888+695_-888+696delinsGA (n.-888+695_-888+696delinsGA) | |
| 17 | g.4933647C>A | CA397319721 | CHRNE,GP1BA | c.1043C>A (p.Ser348Tyr) c.-888+695G>T (n.-888+695G>T) | |
| 17 | g.4933647C>G | CA397319722 | CHRNE,GP1BA | c.1043C>G (p.Ser348Cys) c.-888+695G>C (n.-888+695G>C) | |
| 17 | g.4933647C>T | CA397319724 | CHRNE,GP1BA | c.1043C>T (p.Ser348Phe) c.-888+695G>A (n.-888+695G>A) | |
| 17 | g.4933648del | CA624856139 | CHRNE,GP1BA | c.1044del (p.Thr349LeufsTer?) c.-888+695del (n.-888+695del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933648C>A | CA497678436 | CHRNE,GP1BA | c.1044C>A (p.Ser348=) c.-888+694G>T (n.-888+694G>T) | |
| 17 | g.4933648C>G | CA497678437 | CHRNE,GP1BA | c.1044C>G (p.Ser348=) c.-888+694G>C (n.-888+694G>C) | |
| 17 | g.4933648C>T | CA497678438 | CHRNE,GP1BA | c.1044C>T (p.Ser348=) c.-888+694G>A (n.-888+694G>A) | |
| 17 | g.4933649A= | CA2244625656 | CHRNE,GP1BA | c.1045A= (p.Thr349=) c.-888+693T= (n.-888+693T=) | |
| 17 | g.4933649A>C | CA397319727 | CHRNE,GP1BA | c.1045A>C (p.Thr349Pro) c.-888+693T>G (n.-888+693T>G) | |
| 17 | g.4933649A>G | CA397319728 | CHRNE,GP1BA | c.1045A>G (p.Thr349Ala) c.-888+693T>C (n.-888+693T>C) | dbSNP gnomAD v2 |
| 17 | g.4933649A>T | CA397319729 | CHRNE,GP1BA | c.1045A>T (p.Thr349Ser) c.-888+693T>A (n.-888+693T>A) | |
| 17 | g.4933650C>A | CA397319731 | CHRNE,GP1BA | c.1046C>A (p.Thr349Asn) c.-888+692G>T (n.-888+692G>T) | |
| 17 | g.4933650C= | CA2244625657 | CHRNE,GP1BA | c.1046C= (p.Thr349=) c.-888+692G= (n.-888+692G=) | |
| 17 | g.4933650C>G | CA8314887 | CHRNE,GP1BA | c.1046C>G (p.Thr349Ser) c.-888+692G>C (n.-888+692G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933650C>T | CA397319733 | CHRNE,GP1BA | c.1046C>T (p.Thr349Ile) c.-888+692G>A (n.-888+692G>A) | |
| 17 | g.4933651T>A | CA497678440 | CHRNE,GP1BA | c.1047T>A (p.Thr349=) c.-888+691A>T (n.-888+691A>T) | |
| 17 | g.4933651T>C | CA497678441 | CHRNE,GP1BA | c.1047T>C (p.Thr349=) c.-888+691A>G (n.-888+691A>G) | gnomAD v4 |
| 17 | g.4933651T>G | CA497678442 | CHRNE,GP1BA | c.1047T>G (p.Thr349=) c.-888+691A>C (n.-888+691A>C) | gnomAD v4 |
| 17 | g.4933652A>C | CA397319738 | CHRNE,GP1BA | c.1048A>C (p.Lys350Gln) c.-888+690T>G (n.-888+690T>G) | |
| 17 | g.4933652A>G | CA397319736 | CHRNE,GP1BA | c.1048A>G (p.Lys350Glu) c.-888+690T>C (n.-888+690T>C) | |
| 17 | g.4933652A>T | CA397319735 | CHRNE,GP1BA | c.1048A>T (p.Lys350Ter) c.-888+690T>A (n.-888+690T>A) | |
| 17 | g.4933653A= | CA2244625658 | CHRNE,GP1BA | c.1049A= (p.Lys350=) c.-888+689T= (n.-888+689T=) | |
| 17 | g.4933653A>C | CA397319740 | CHRNE,GP1BA | c.1049A>C (p.Lys350Thr) c.-888+689T>G (n.-888+689T>G) | |
| 17 | g.4933653A>G | CA8314888 | CHRNE,GP1BA | c.1049A>G (p.Lys350Arg) c.-888+689T>C (n.-888+689T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933653A>T | CA397319744 | CHRNE,GP1BA | c.1049A>T (p.Lys350Met) c.-888+689T>A (n.-888+689T>A) | |
| 17 | g.4933654G>A | CA497678445 | CHRNE,GP1BA | c.1050G>A (p.Lys350=) c.-888+688C>T (n.-888+688C>T) | |
| 17 | g.4933654G>C | CA397319747 | CHRNE,GP1BA | c.1050G>C (p.Lys350Asn) c.-888+688C>G (n.-888+688C>G) | |
| 17 | g.4933654G>T | CA397319749 | CHRNE,GP1BA | c.1050G>T (p.Lys350Asn) c.-888+688C>A (n.-888+688C>A) | |
| 17 | g.4933655G>A | CA397319753 | CHRNE,GP1BA | c.1051G>A (p.Glu351Lys) c.-888+687C>T (n.-888+687C>T) | gnomAD v4 COSMIC |
| 17 | g.4933655G>C | CA397319756 | CHRNE,GP1BA | c.1051G>C (p.Glu351Gln) c.-888+687C>G (n.-888+687C>G) | gnomAD v4 |
| 17 | g.4933655G>T | CA397319757 | CHRNE,GP1BA | c.1051G>T (p.Glu351Ter) c.-888+687C>A (n.-888+687C>A) | |
| 17 | g.4933656A>C | CA397319760 | CHRNE,GP1BA | c.1052A>C (p.Glu351Ala) c.-888+686T>G (n.-888+686T>G) | |
| 17 | g.4933656A>G | CA397319762 | CHRNE,GP1BA | c.1052A>G (p.Glu351Gly) c.-888+686T>C (n.-888+686T>C) | |
| 17 | g.4933656A>T | CA397319763 | CHRNE,GP1BA | c.1052A>T (p.Glu351Val) c.-888+686T>A (n.-888+686T>A) | ClinVar |
| 17 | g.4933657G>A | CA497678447 | CHRNE,GP1BA | c.1053G>A (p.Glu351=) c.-888+685C>T (n.-888+685C>T) | dbSNP gnomAD v4 |
| 17 | g.4933657G>C | CA397319765 | CHRNE,GP1BA | c.1053G>C (p.Glu351Asp) c.-888+685C>G (n.-888+685C>G) | |
| 17 | g.4933657G= | CA2244625659 | CHRNE,GP1BA | c.1053G= (p.Glu351=) c.-888+685C= (n.-888+685C=) | |
| 17 | g.4933657G>T | CA397319766 | CHRNE,GP1BA | c.1053G>T (p.Glu351Asp) c.-888+685C>A (n.-888+685C>A) | |
| 17 | g.4933658C>A | CA397319771 | CHRNE,GP1BA | c.1054C>A (p.Gln352Lys) c.-888+684G>T (n.-888+684G>T) | dbSNP gnomAD v4 |
| 17 | g.4933658C= | CA2244625660 | CHRNE,GP1BA | c.1054C= (p.Gln352=) c.-888+684G= (n.-888+684G=) | |
| 17 | g.4933658C>G | CA397319773 | CHRNE,GP1BA | c.1054C>G (p.Gln352Glu) c.-888+684G>C (n.-888+684G>C) | gnomAD v4 |
| 17 | g.4933658C>T | CA397319769 | CHRNE,GP1BA | c.1054C>T (p.Gln352Ter) c.-888+684G>A (n.-888+684G>A) | |
| 17 | g.4933658_4933659delinsCA | CA2244625661 | CHRNE,GP1BA | c.1054_1055delinsCA (p.Gln352=) c.-888+683_-888+684delinsTG (n.-888+683_-888+684delinsTG) | |
| 17 | g.4933659del | CA2244625662 | CHRNE,GP1BA | c.1055del (p.Gln352ArgfsTer?) c.-888+683del (n.-888+683del) | dbSNP |
| 17 | g.4933659A= | CA2244625663 | CHRNE,GP1BA | c.1055A= (p.Gln352=) c.-888+683T= (n.-888+683T=) | |
| 17 | g.4933659A>C | CA397319775 | CHRNE,GP1BA | c.1055A>C (p.Gln352Pro) c.-888+683T>G (n.-888+683T>G) | dbSNP |
| 17 | g.4933659A>G | CA397319777 | CHRNE,GP1BA | c.1055A>G (p.Gln352Arg) c.-888+683T>C (n.-888+683T>C) | |
| 17 | g.4933659A>T | CA397319778 | CHRNE,GP1BA | c.1055A>T (p.Gln352Leu) c.-888+683T>A (n.-888+683T>A) | |
| 17 | g.4933660G>A | CA497678451 | CHRNE,GP1BA | c.1056G>A (p.Gln352=) c.-888+682C>T (n.-888+682C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933660G>C | CA397319779 | CHRNE,GP1BA | c.1056G>C (p.Gln352His) c.-888+682C>G (n.-888+682C>G) | |
| 17 | g.4933660G= | CA2244625664 | CHRNE,GP1BA | c.1056G= (p.Gln352=) c.-888+682C= (n.-888+682C=) | |
| 17 | g.4933660G>T | CA397319780 | CHRNE,GP1BA | c.1056G>T (p.Gln352His) c.-888+682C>A (n.-888+682C>A) | |
| 17 | g.4933661A>C | CA397319782 | CHRNE,GP1BA | c.1057A>C (p.Thr353Pro) c.-888+681T>G (n.-888+681T>G) | |
| 17 | g.4933661A>G | CA397319783 | CHRNE,GP1BA | c.1057A>G (p.Thr353Ala) c.-888+681T>C (n.-888+681T>C) | |
| 17 | g.4933661A>T | CA397319786 | CHRNE,GP1BA | c.1057A>T (p.Thr353Ser) c.-888+681T>A (n.-888+681T>A) | |
| 17 | g.4933661_4933666del | CA2635578971 | CHRNE,GP1BA | c.1057_1062del (p.Thr353_Thr354del) c.-888+676_-888+681del (n.-888+676_-888+681del) | gnomAD v4 |
| 17 | g.4933662C>A | CA397319787 | CHRNE,GP1BA | c.1058C>A (p.Thr353Asn) c.-888+680G>T (n.-888+680G>T) | gnomAD v4 |
| 17 | g.4933662C>G | CA397319789 | CHRNE,GP1BA | c.1058C>G (p.Thr353Ser) c.-888+680G>C (n.-888+680G>C) | gnomAD v4 |
| 17 | g.4933662C>T | CA397319791 | CHRNE,GP1BA | c.1058C>T (p.Thr353Ile) c.-888+680G>A (n.-888+680G>A) | gnomAD v4 |
| 17 | g.4933663C>A | CA497678453 | CHRNE,GP1BA | c.1059C>A (p.Thr353=) c.-888+679G>T (n.-888+679G>T) | |
| 17 | g.4933663C>G | CA497678454 | CHRNE,GP1BA | c.1059C>G (p.Thr353=) c.-888+679G>C (n.-888+679G>C) | gnomAD v4 |
| 17 | g.4933663C>T | CA497678455 | CHRNE,GP1BA | c.1059C>T (p.Thr353=) c.-888+679G>A (n.-888+679G>A) | |
| 17 | g.4933664A>C | CA397319799 | CHRNE,GP1BA | c.1060A>C (p.Thr354Pro) c.-888+678T>G (n.-888+678T>G) | |
| 17 | g.4933664A>G | CA397319793 | CHRNE,GP1BA | c.1060A>G (p.Thr354Ala) c.-888+678T>C (n.-888+678T>C) | |
| 17 | g.4933664A>T | CA397319796 | CHRNE,GP1BA | c.1060A>T (p.Thr354Ser) c.-888+678T>A (n.-888+678T>A) | |
| 17 | g.4933665C>A | CA397319800 | CHRNE,GP1BA | c.1061C>A (p.Thr354Lys) c.-888+677G>T (n.-888+677G>T) | |
| 17 | g.4933665C= | CA2244625665 | CHRNE,GP1BA | c.1061C= (p.Thr354=) c.-888+677G= (n.-888+677G=) | |
| 17 | g.4933665C>G | CA8314889 | CHRNE,GP1BA | c.1061C>G (p.Thr354Arg) c.-888+677G>C (n.-888+677G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933665C>T | CA397319801 | CHRNE,GP1BA | c.1061C>T (p.Thr354Ile) c.-888+677G>A (n.-888+677G>A) | |
| 17 | g.4933666A= | CA2244625666 | CHRNE,GP1BA | c.1062A= (p.Thr354=) c.-888+676T= (n.-888+676T=) | |
| 17 | g.4933666A>C | CA497678458 | CHRNE,GP1BA | c.1062A>C (p.Thr354=) c.-888+676T>G (n.-888+676T>G) | |
| 17 | g.4933666A>G | CA497678460 | CHRNE,GP1BA | c.1062A>G (p.Thr354=) c.-888+676T>C (n.-888+676T>C) | gnomAD v4 |
| 17 | g.4933666A>T | CA497678459 | CHRNE,GP1BA | c.1062A>T (p.Thr354=) c.-888+676T>A (n.-888+676T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933667T>A | CA397319802 | CHRNE,GP1BA | c.1063T>A (p.Phe355Ile) c.-888+675A>T (n.-888+675A>T) | |
| 17 | g.4933667T>C | CA397319803 | CHRNE,GP1BA | c.1063T>C (p.Phe355Leu) c.-888+675A>G (n.-888+675A>G) | gnomAD v4 |
| 17 | g.4933667T>G | CA397319804 | CHRNE,GP1BA | c.1063T>G (p.Phe355Val) c.-888+675A>C (n.-888+675A>C) | gnomAD v4 |
| 17 | g.4933668dup | CA2695224151 | CHRNE,GP1BA | c.1064dup (p.Pro357ThrfsTer2) c.-888+675dup (n.-888+675dup) | |
| 17 | g.4933668T>A | CA397319806 | CHRNE,GP1BA | c.1064T>A (p.Phe355Tyr) c.-888+674A>T (n.-888+674A>T) | |
| 17 | g.4933668T>C | CA397319807 | CHRNE,GP1BA | c.1064T>C (p.Phe355Ser) c.-888+674A>G (n.-888+674A>G) | |
| 17 | g.4933668T>G | CA397319808 | CHRNE,GP1BA | c.1064T>G (p.Phe355Cys) c.-888+674A>C (n.-888+674A>C) | |
| 17 | g.4933669C>A | CA397319809 | CHRNE,GP1BA | c.1065C>A (p.Phe355Leu) c.-888+673G>T (n.-888+673G>T) | |
| 17 | g.4933669C>G | CA397319811 | CHRNE,GP1BA | c.1065C>G (p.Phe355Leu) c.-888+673G>C (n.-888+673G>C) | |
| 17 | g.4933669C>T | CA497678462 | CHRNE,GP1BA | c.1065C>T (p.Phe355=) c.-888+673G>A (n.-888+673G>A) | |
| 17 | g.4933670C>A | CA397319813 | CHRNE,GP1BA | c.1066C>A (p.Pro356Thr) c.-888+672G>T (n.-888+672G>T) | |
| 17 | g.4933670C>G | CA397319814 | CHRNE,GP1BA | c.1066C>G (p.Pro356Ala) c.-888+672G>C (n.-888+672G>C) | |
| 17 | g.4933670C>T | CA397319812 | CHRNE,GP1BA | c.1066C>T (p.Pro356Ser) c.-888+672G>A (n.-888+672G>A) | |
| 17 | g.4933671C>A | CA8314890 | CHRNE,GP1BA | c.1067C>A (p.Pro356Gln) c.-888+671G>T (n.-888+671G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933671C= | CA2244625667 | CHRNE,GP1BA | c.1067C= (p.Pro356=) c.-888+671G= (n.-888+671G=) | |
| 17 | g.4933671C>G | CA397319815 | CHRNE,GP1BA | c.1067C>G (p.Pro356Arg) c.-888+671G>C (n.-888+671G>C) | |
| 17 | g.4933671C>T | CA287216877 | CHRNE,GP1BA | c.1067C>T (p.Pro356Leu) c.-888+671G>A (n.-888+671G>A) | dbSNP gnomAD v4 |
| 17 | g.4933672A= | CA2244625668 | CHRNE,GP1BA | c.1068A= (p.Pro356=) c.-888+670T= (n.-888+670T=) | |
| 17 | g.4933672A>C | CA10587271 | CHRNE,GP1BA | c.1068A>C (p.Pro356=) c.-888+670T>G (n.-888+670T>G) | ClinVar dbSNP |
| 17 | g.4933672A>G | CA497678464 | CHRNE,GP1BA | c.1068A>G (p.Pro356=) c.-888+670T>C (n.-888+670T>C) | |
| 17 | g.4933672A>T | CA497678465 | CHRNE,GP1BA | c.1068A>T (p.Pro356=) c.-888+670T>A (n.-888+670T>A) | |
| 17 | g.4933673C>A | CA397319820 | CHRNE,GP1BA | c.1069C>A (p.Pro357Thr) c.-888+669G>T (n.-888+669G>T) | |
| 17 | g.4933673C>G | CA397319822 | CHRNE,GP1BA | c.1069C>G (p.Pro357Ala) c.-888+669G>C (n.-888+669G>C) | |
| 17 | g.4933673C>T | CA397319823 | CHRNE,GP1BA | c.1069C>T (p.Pro357Ser) c.-888+669G>A (n.-888+669G>A) | gnomAD v4 |
| 17 | g.4933674C>A | CA397319826 | CHRNE,GP1BA | c.1070C>A (p.Pro357His) c.-888+668G>T (n.-888+668G>T) | |
| 17 | g.4933674C>G | CA397319828 | CHRNE,GP1BA | c.1070C>G (p.Pro357Arg) c.-888+668G>C (n.-888+668G>C) | |
| 17 | g.4933674C>T | CA397319831 | CHRNE,GP1BA | c.1070C>T (p.Pro357Leu) c.-888+668G>A (n.-888+668G>A) | gnomAD v4 |
| 17 | g.4933675T>A | CA497678469 | CHRNE,GP1BA | c.1071T>A (p.Pro357=) c.-888+667A>T (n.-888+667A>T) | |
| 17 | g.4933675T>C | CA497678467 | CHRNE,GP1BA | c.1071T>C (p.Pro357=) c.-888+667A>G (n.-888+667A>G) | |
| 17 | g.4933675T>G | CA497678468 | CHRNE,GP1BA | c.1071T>G (p.Pro357=) c.-888+667A>C (n.-888+667A>C) | |
| 17 | g.4933676A= | CA2244625669 | CHRNE,GP1BA | c.1072A= (p.Arg358=) c.-888+666T= (n.-888+666T=) | |
| 17 | g.4933676A>C | CA497678470 | CHRNE,GP1BA | c.1072A>C (p.Arg358=) c.-888+666T>G (n.-888+666T>G) | |
| 17 | g.4933676A>G | CA8314891 | CHRNE,GP1BA | c.1072A>G (p.Arg358Gly) c.-888+666T>C (n.-888+666T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933676A>T | CA397319832 | CHRNE,GP1BA | c.1072A>T (p.Arg358Ter) c.-888+666T>A (n.-888+666T>A) | |
| 17 | g.4933677G>A | CA397319837 | CHRNE,GP1BA | c.1073G>A (p.Arg358Lys) c.-888+665C>T (n.-888+665C>T) | |
| 17 | g.4933677G>C | CA8314892 | CHRNE,GP1BA | c.1073G>C (p.Arg358Thr) c.-888+665C>G (n.-888+665C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933677G= | CA2244625670 | CHRNE,GP1BA | c.1073G= (p.Arg358=) c.-888+665C= (n.-888+665C=) | |
| 17 | g.4933677G>T | CA397319835 | CHRNE,GP1BA | c.1073G>T (p.Arg358Ile) c.-888+665C>A (n.-888+665C>A) | |
| 17 | g.4933678A= | CA2244625671 | CHRNE,GP1BA | c.1074A= (p.Arg358=) c.-888+664T= (n.-888+664T=) | |
| 17 | g.4933678A>C | CA397319841 | CHRNE,GP1BA | c.1074A>C (p.Arg358Ser) c.-888+664T>G (n.-888+664T>G) | |
| 17 | g.4933678A>G | CA8314893 | CHRNE,GP1BA | c.1074A>G (p.Arg358=) c.-888+664T>C (n.-888+664T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933678A>T | CA397319844 | CHRNE,GP1BA | c.1074A>T (p.Arg358Ser) c.-888+664T>A (n.-888+664T>A) | dbSNP |
| 17 | g.4933679T>A | CA397319847 | CHRNE,GP1BA | c.1075T>A (p.Trp359Arg) c.-888+663A>T (n.-888+663A>T) | |
| 17 | g.4933679T>C | CA287216900 | CHRNE,GP1BA | c.1075T>C (p.Trp359Arg) c.-888+663A>G (n.-888+663A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933679T>G | CA397319850 | CHRNE,GP1BA | c.1075T>G (p.Trp359Gly) c.-888+663A>C (n.-888+663A>C) | |
| 17 | g.4933679T= | CA2244625672 | CHRNE,GP1BA | c.1075T= (p.Trp359=) c.-888+663A= (n.-888+663A=) | |
| 17 | g.4933680G>A | CA397319853 | CHRNE,GP1BA | c.1076G>A (p.Trp359Ter) c.-888+662C>T (n.-888+662C>T) | |
| 17 | g.4933680G>C | CA397319855 | CHRNE,GP1BA | c.1076G>C (p.Trp359Ser) c.-888+662C>G (n.-888+662C>G) | |
| 17 | g.4933680G>T | CA397319857 | CHRNE,GP1BA | c.1076G>T (p.Trp359Leu) c.-888+662C>A (n.-888+662C>A) | |
| 17 | g.4933681del | CA658820739 | CHRNE,GP1BA | c.1077del (p.Trp359Ter) c.-888+662del (n.-888+662del) | gnomAD v4 |
| 17 | g.4933681G>A | CA116657 | CHRNE,GP1BA | c.1077G>A (p.Trp359Ter) c.-888+661C>T (n.-888+661C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933681G>C | CA397319862 | CHRNE,GP1BA | c.1077G>C (p.Trp359Cys) c.-888+661C>G (n.-888+661C>G) | |
| 17 | g.4933681G= | CA2244625673 | CHRNE,GP1BA | c.1077G= (p.Trp359=) c.-888+661C= (n.-888+661C=) | |
| 17 | g.4933681G>T | CA397319863 | CHRNE,GP1BA | c.1077G>T (p.Trp359Cys) c.-888+661C>A (n.-888+661C>A) | |
| 17 | g.4933682A= | CA2244625674 | CHRNE,GP1BA | c.1078A= (p.Thr360=) c.-888+660T= (n.-888+660T=) | |
| 17 | g.4933682A>C | CA397319868 | CHRNE,GP1BA | c.1078A>C (p.Thr360Pro) c.-888+660T>G (n.-888+660T>G) | |
| 17 | g.4933682A>G | CA397319870 | CHRNE,GP1BA | c.1078A>G (p.Thr360Ala) c.-888+660T>C (n.-888+660T>C) | |
| 17 | g.4933682A>T | CA8314894 | CHRNE,GP1BA | c.1078A>T (p.Thr360Ser) c.-888+660T>A (n.-888+660T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933683C>A | CA397319873 | CHRNE,GP1BA | c.1079C>A (p.Thr360Asn) c.-888+659G>T (n.-888+659G>T) | |
| 17 | g.4933683C>G | CA397319874 | CHRNE,GP1BA | c.1079C>G (p.Thr360Ser) c.-888+659G>C (n.-888+659G>C) | |
| 17 | g.4933683C>T | CA397319877 | CHRNE,GP1BA | c.1079C>T (p.Thr360Ile) c.-888+659G>A (n.-888+659G>A) | |
| 17 | g.4933684C>A | CA8314895 | CHRNE,GP1BA | c.1080C>A (p.Thr360=) c.-888+658G>T (n.-888+658G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933684C= | CA2244625675 | CHRNE,GP1BA | c.1080C= (p.Thr360=) c.-888+658G= (n.-888+658G=) | |
| 17 | g.4933684C>G | CA497678479 | CHRNE,GP1BA | c.1080C>G (p.Thr360=) c.-888+658G>C (n.-888+658G>C) | |
| 17 | g.4933684C>T | CA497678481 | CHRNE,GP1BA | c.1080C>T (p.Thr360=) c.-888+658G>A (n.-888+658G>A) |