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 |
|---|---|---|---|---|---|
| 10 | g.49611305_49611309del | CA2574545085 | CHAT,SLC18A3 | c.565_569del (p.Ser189LeufsTer13) c.-69+2106_-69+2110del (n.-69+2106_-69+2110del) | |
| 10 | g.49611305T>A | CA376719403 | CHAT,SLC18A3 | c.565T>A (p.Ser189Thr) c.-69+2106T>A (n.-69+2106T>A) | |
| 10 | g.49611305T>C | CA376719404 | CHAT,SLC18A3 | c.565T>C (p.Ser189Pro) c.-69+2106T>C (n.-69+2106T>C) | |
| 10 | g.49611305T>G | CA376719407 | CHAT,SLC18A3 | c.565T>G (p.Ser189Ala) c.-69+2106T>G (n.-69+2106T>G) | |
| 10 | g.49611306C>A | CA376719409 | CHAT,SLC18A3 | c.566C>A (p.Ser189Ter) c.-69+2107C>A (n.-69+2107C>A) | |
| 10 | g.49611306C= | CA1908793311 | CHAT,SLC18A3 | c.566C= (p.Ser189=) c.-69+2107C= (n.-69+2107C=) | |
| 10 | g.49611306C>G | CA376719412 | CHAT,SLC18A3 | c.566C>G (p.Ser189Ter) c.-69+2107C>G (n.-69+2107C>G) | |
| 10 | g.49611306C>T | CA376719414 | CHAT,SLC18A3 | c.566C>T (p.Ser189Leu) c.-69+2107C>T (n.-69+2107C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611307A>C | CA469791306 | CHAT,SLC18A3 | c.567A>C (p.Ser189=) c.-69+2108A>C (n.-69+2108A>C) | |
| 10 | g.49611307A>G | CA469791304 | CHAT,SLC18A3 | c.567A>G (p.Ser189=) c.-69+2108A>G (n.-69+2108A>G) | |
| 10 | g.49611307A>T | CA469791305 | CHAT,SLC18A3 | c.567A>T (p.Ser189=) c.-69+2108A>T (n.-69+2108A>T) | |
| 10 | g.49611308G>A | CA376719418 | CHAT,SLC18A3 | c.568G>A (p.Ala190Thr) c.-69+2109G>A (n.-69+2109G>A) | |
| 10 | g.49611308G>C | CA376719421 | CHAT,SLC18A3 | c.568G>C (p.Ala190Pro) c.-69+2109G>C (n.-69+2109G>C) | |
| 10 | g.49611308G>T | CA376719423 | CHAT,SLC18A3 | c.568G>T (p.Ala190Ser) c.-69+2109G>T (n.-69+2109G>T) | gnomAD v4 |
| 10 | g.49611309C>A | CA376719430 | CHAT,SLC18A3 | c.569C>A (p.Ala190Asp) c.-69+2110C>A (n.-69+2110C>A) | |
| 10 | g.49611309C>G | CA376719433 | CHAT,SLC18A3 | c.569C>G (p.Ala190Gly) c.-69+2110C>G (n.-69+2110C>G) | dbSNP |
| 10 | g.49611309C>T | CA376719427 | CHAT,SLC18A3 | c.569C>T (p.Ala190Val) c.-69+2110C>T (n.-69+2110C>T) | gnomAD v4 |
| 10 | g.49611310C>A | CA469791311 | CHAT,SLC18A3 | c.570C>A (p.Ala190=) c.-69+2111C>A (n.-69+2111C>A) | |
| 10 | g.49611310C= | CA1908793316 | CHAT,SLC18A3 | c.570C= (p.Ala190=) c.-69+2111C= (n.-69+2111C=) | |
| 10 | g.49611310C>G | CA469791314 | CHAT,SLC18A3 | c.570C>G (p.Ala190=) c.-69+2111C>G (n.-69+2111C>G) | |
| 10 | g.49611310C>T | CA469791312 | CHAT,SLC18A3 | c.570C>T (p.Ala190=) c.-69+2111C>T (n.-69+2111C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611311T>A | CA376719435 | CHAT,SLC18A3 | c.571T>A (p.Phe191Ile) c.-69+2112T>A (n.-69+2112T>A) | |
| 10 | g.49611311T>C | CA376719437 | CHAT,SLC18A3 | c.571T>C (p.Phe191Leu) c.-69+2112T>C (n.-69+2112T>C) | |
| 10 | g.49611311T>G | CA376719440 | CHAT,SLC18A3 | c.571T>G (p.Phe191Val) c.-69+2112T>G (n.-69+2112T>G) | |
| 10 | g.49611312T>A | CA376719443 | CHAT,SLC18A3 | c.572T>A (p.Phe191Tyr) c.-69+2113T>A (n.-69+2113T>A) | |
| 10 | g.49611312T>C | CA376719445 | CHAT,SLC18A3 | c.572T>C (p.Phe191Ser) c.-69+2113T>C (n.-69+2113T>C) | |
| 10 | g.49611312T>G | CA376719447 | CHAT,SLC18A3 | c.572T>G (p.Phe191Cys) c.-69+2113T>G (n.-69+2113T>G) | |
| 10 | g.49611313C>A | CA376719451 | CHAT,SLC18A3 | c.573C>A (p.Phe191Leu) c.-69+2114C>A (n.-69+2114C>A) | |
| 10 | g.49611313C>G | CA376719453 | CHAT,SLC18A3 | c.573C>G (p.Phe191Leu) c.-69+2114C>G (n.-69+2114C>G) | |
| 10 | g.49611313C>T | CA469791319 | CHAT,SLC18A3 | c.573C>T (p.Phe191=) c.-69+2114C>T (n.-69+2114C>T) | gnomAD v4 COSMIC |
| 10 | g.49611314G>A | CA376719457 | CHAT,SLC18A3 | c.574G>A (p.Ala192Thr) c.-69+2115G>A (n.-69+2115G>A) | gnomAD v4 COSMIC |
| 10 | g.49611314G>C | CA376719460 | CHAT,SLC18A3 | c.574G>C (p.Ala192Pro) c.-69+2115G>C (n.-69+2115G>C) | |
| 10 | g.49611314G= | CA1908793321 | CHAT,SLC18A3 | c.574G= (p.Ala192=) c.-69+2115G= (n.-69+2115G=) | |
| 10 | g.49611314G>T | CA376719464 | CHAT,SLC18A3 | c.574G>T (p.Ala192Ser) c.-69+2115G>T (n.-69+2115G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611315C>A | CA376719472 | CHAT,SLC18A3 | c.575C>A (p.Ala192Asp) c.-69+2116C>A (n.-69+2116C>A) | |
| 10 | g.49611315C= | CA1908793323 | CHAT,SLC18A3 | c.575C= (p.Ala192=) c.-69+2116C= (n.-69+2116C=) | |
| 10 | g.49611315C>G | CA376719474 | CHAT,SLC18A3 | c.575C>G (p.Ala192Gly) c.-69+2116C>G (n.-69+2116C>G) | |
| 10 | g.49611315C>T | CA5496789 | CHAT,SLC18A3 | c.575C>T (p.Ala192Val) c.-69+2116C>T (n.-69+2116C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611316C>A | CA469791326 | CHAT,SLC18A3 | c.576C>A (p.Ala192=) c.-69+2117C>A (n.-69+2117C>A) | |
| 10 | g.49611316C>G | CA469791324 | CHAT,SLC18A3 | c.576C>G (p.Ala192=) c.-69+2117C>G (n.-69+2117C>G) | gnomAD v4 |
| 10 | g.49611316C>T | CA469791325 | CHAT,SLC18A3 | c.576C>T (p.Ala192=) c.-69+2117C>T (n.-69+2117C>T) | gnomAD v4 |
| 10 | g.49611317G>A | CA376719477 | CHAT,SLC18A3 | c.577G>A (p.Asp193Asn) c.-69+2118G>A (n.-69+2118G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611317G>C | CA376719479 | CHAT,SLC18A3 | c.577G>C (p.Asp193His) c.-69+2118G>C (n.-69+2118G>C) | |
| 10 | g.49611317G= | CA1908793329 | CHAT,SLC18A3 | c.577G= (p.Asp193=) c.-69+2118G= (n.-69+2118G=) | |
| 10 | g.49611317G>T | CA376719482 | CHAT,SLC18A3 | c.577G>T (p.Asp193Tyr) c.-69+2118G>T (n.-69+2118G>T) | gnomAD v4 |
| 10 | g.49611318A>C | CA376719487 | CHAT,SLC18A3 | c.578A>C (p.Asp193Ala) c.-69+2119A>C (n.-69+2119A>C) | |
| 10 | g.49611318A>G | CA376719489 | CHAT,SLC18A3 | c.578A>G (p.Asp193Gly) c.-69+2119A>G (n.-69+2119A>G) | |
| 10 | g.49611318A>T | CA376719492 | CHAT,SLC18A3 | c.578A>T (p.Asp193Val) c.-69+2119A>T (n.-69+2119A>T) | |
| 10 | g.49611319C>A | CA376719496 | CHAT,SLC18A3 | c.579C>A (p.Asp193Glu) c.-69+2120C>A (n.-69+2120C>A) | |
| 10 | g.49611319C>G | CA376719501 | CHAT,SLC18A3 | c.579C>G (p.Asp193Glu) c.-69+2120C>G (n.-69+2120C>G) | gnomAD v4 |
| 10 | g.49611319C>T | CA469791330 | CHAT,SLC18A3 | c.579C>T (p.Asp193=) c.-69+2120C>T (n.-69+2120C>T) | |
| 10 | g.49611320A>C | CA376719503 | CHAT,SLC18A3 | c.580A>C (p.Thr194Pro) c.-69+2121A>C (n.-69+2121A>C) | |
| 10 | g.49611320A>G | CA376719506 | CHAT,SLC18A3 | c.580A>G (p.Thr194Ala) c.-69+2121A>G (n.-69+2121A>G) | gnomAD v4 |
| 10 | g.49611320A>T | CA376719508 | CHAT,SLC18A3 | c.580A>T (p.Thr194Ser) c.-69+2121A>T (n.-69+2121A>T) | gnomAD v4 |
| 10 | g.49611321C>A | CA376719512 | CHAT,SLC18A3 | c.581C>A (p.Thr194Lys) c.-69+2122C>A (n.-69+2122C>A) | |
| 10 | g.49611321C= | CA1908793334 | CHAT,SLC18A3 | c.581C= (p.Thr194=) c.-69+2122C= (n.-69+2122C=) | |
| 10 | g.49611321C>G | CA376719515 | CHAT,SLC18A3 | c.581C>G (p.Thr194Arg) c.-69+2122C>G (n.-69+2122C>G) | dbSNP |
| 10 | g.49611321C>T | CA376719518 | CHAT,SLC18A3 | c.581C>T (p.Thr194Met) c.-69+2122C>T (n.-69+2122C>T) | dbSNP gnomAD v4 |
| 10 | g.49611322G>A | CA469791342 | CHAT,SLC18A3 | c.582G>A (p.Thr194=) c.-69+2123G>A (n.-69+2123G>A) | gnomAD v4 |
| 10 | g.49611322G>C | CA469791341 | CHAT,SLC18A3 | c.582G>C (p.Thr194=) c.-69+2123G>C (n.-69+2123G>C) | |
| 10 | g.49611322G>T | CA469791339 | CHAT,SLC18A3 | c.582G>T (p.Thr194=) c.-69+2123G>T (n.-69+2123G>T) | |
| 10 | g.49611323T>A | CA376719524 | CHAT,SLC18A3 | c.583T>A (p.Ser195Thr) c.-69+2124T>A (n.-69+2124T>A) | |
| 10 | g.49611323T>C | CA376719526 | CHAT,SLC18A3 | c.583T>C (p.Ser195Pro) c.-69+2124T>C (n.-69+2124T>C) | dbSNP |
| 10 | g.49611323T>G | CA376719521 | CHAT,SLC18A3 | c.583T>G (p.Ser195Ala) c.-69+2124T>G (n.-69+2124T>G) | |
| 10 | g.49611323T= | CA1908793338 | CHAT,SLC18A3 | c.583T= (p.Ser195=) c.-69+2124T= (n.-69+2124T=) | |
| 10 | g.49611324C>A | CA376719535 | CHAT,SLC18A3 | c.584C>A (p.Ser195Tyr) c.-69+2125C>A (n.-69+2125C>A) | |
| 10 | g.49611324C>G | CA376719530 | CHAT,SLC18A3 | c.584C>G (p.Ser195Cys) c.-69+2125C>G (n.-69+2125C>G) | |
| 10 | g.49611324C>T | CA376719533 | CHAT,SLC18A3 | c.584C>T (p.Ser195Phe) c.-69+2125C>T (n.-69+2125C>T) | |
| 10 | g.49611325T>A | CA469791346 | CHAT,SLC18A3 | c.585T>A (p.Ser195=) c.-69+2126T>A (n.-69+2126T>A) | |
| 10 | g.49611325T>C | CA469791344 | CHAT,SLC18A3 | c.585T>C (p.Ser195=) c.-69+2126T>C (n.-69+2126T>C) | |
| 10 | g.49611325T>G | CA469791345 | CHAT,SLC18A3 | c.585T>G (p.Ser195=) c.-69+2126T>G (n.-69+2126T>G) | |
| 10 | g.49611326G>A | CA5496790 | CHAT,SLC18A3 | c.586G>A (p.Gly196Ser) c.-69+2127G>A (n.-69+2127G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611326G>C | CA376719539 | CHAT,SLC18A3 | c.586G>C (p.Gly196Arg) c.-69+2127G>C (n.-69+2127G>C) | |
| 10 | g.49611326G= | CA1908793346 | CHAT,SLC18A3 | c.586G= (p.Gly196=) c.-69+2127G= (n.-69+2127G=) | |
| 10 | g.49611326G>T | CA376719543 | CHAT,SLC18A3 | c.586G>T (p.Gly196Cys) c.-69+2127G>T (n.-69+2127G>T) | |
| 10 | g.49611327G>A | CA376719547 | CHAT,SLC18A3 | c.587G>A (p.Gly196Asp) c.-69+2128G>A (n.-69+2128G>A) | gnomAD v4 |
| 10 | g.49611327G>C | CA376719550 | CHAT,SLC18A3 | c.587G>C (p.Gly196Ala) c.-69+2128G>C (n.-69+2128G>C) | |
| 10 | g.49611327G>T | CA376719554 | CHAT,SLC18A3 | c.587G>T (p.Gly196Val) c.-69+2128G>T (n.-69+2128G>T) | gnomAD v4 |
| 10 | g.49611328C>A | CA469791349 | CHAT,SLC18A3 | c.588C>A (p.Gly196=) c.-69+2129C>A (n.-69+2129C>A) | |
| 10 | g.49611328C= | CA1908793352 | CHAT,SLC18A3 | c.588C= (p.Gly196=) c.-69+2129C= (n.-69+2129C=) | |
| 10 | g.49611328C>G | CA469791348 | CHAT,SLC18A3 | c.588C>G (p.Gly196=) c.-69+2129C>G (n.-69+2129C>G) | |
| 10 | g.49611328C>T | CA469791350 | CHAT,SLC18A3 | c.588C>T (p.Gly196=) c.-69+2129C>T (n.-69+2129C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611329A= | CA1908793359 | CHAT,SLC18A3 | c.589A= (p.Ile197=) c.-69+2130A= (n.-69+2130A=) | |
| 10 | g.49611329A>C | CA376719557 | CHAT,SLC18A3 | c.589A>C (p.Ile197Leu) c.-69+2130A>C (n.-69+2130A>C) | |
| 10 | g.49611329A>G | CA5496792 | CHAT,SLC18A3 | c.589A>G (p.Ile197Val) c.-69+2130A>G (n.-69+2130A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611329A>T | CA5496791 | CHAT,SLC18A3 | c.589A>T (p.Ile197Leu) c.-69+2130A>T (n.-69+2130A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611330T>A | CA376719564 | CHAT,SLC18A3 | c.590T>A (p.Ile197Lys) c.-69+2131T>A (n.-69+2131T>A) | |
| 10 | g.49611330T>C | CA376719567 | CHAT,SLC18A3 | c.590T>C (p.Ile197Thr) c.-69+2131T>C (n.-69+2131T>C) | gnomAD v4 |
| 10 | g.49611330T>G | CA376719570 | CHAT,SLC18A3 | c.590T>G (p.Ile197Arg) c.-69+2131T>G (n.-69+2131T>G) | |
| 10 | g.49611331A= | CA1908793365 | CHAT,SLC18A3 | c.591A= (p.Ile197=) c.-69+2132A= (n.-69+2132A=) | |
| 10 | g.49611331A>C | CA469791356 | CHAT,SLC18A3 | c.591A>C (p.Ile197=) c.-69+2132A>C (n.-69+2132A>C) | |
| 10 | g.49611331A>G | CA376719574 | CHAT,SLC18A3 | c.591A>G (p.Ile197Met) c.-69+2132A>G (n.-69+2132A>G) | ClinVar dbSNP |
| 10 | g.49611331A>T | CA5496793 | CHAT,SLC18A3 | c.591A>T (p.Ile197=) c.-69+2132A>T (n.-69+2132A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611332G>A | CA376719578 | CHAT,SLC18A3 | c.592G>A (p.Ala198Thr) c.-69+2133G>A (n.-69+2133G>A) | gnomAD v4 |
| 10 | g.49611332G>C | CA376719580 | CHAT,SLC18A3 | c.592G>C (p.Ala198Pro) c.-69+2133G>C (n.-69+2133G>C) | |
| 10 | g.49611332G= | CA1908793370 | CHAT,SLC18A3 | c.592G= (p.Ala198=) c.-69+2133G= (n.-69+2133G=) | |
| 10 | g.49611332G>T | CA376719583 | CHAT,SLC18A3 | c.592G>T (p.Ala198Ser) c.-69+2133G>T (n.-69+2133G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611333C>A | CA376719586 | CHAT,SLC18A3 | c.593C>A (p.Ala198Asp) c.-69+2134C>A (n.-69+2134C>A) | |
| 10 | g.49611333C>G | CA376719588 | CHAT,SLC18A3 | c.593C>G (p.Ala198Gly) c.-69+2134C>G (n.-69+2134C>G) | gnomAD v4 |
| 10 | g.49611333C>T | CA376719593 | CHAT,SLC18A3 | c.593C>T (p.Ala198Val) c.-69+2134C>T (n.-69+2134C>T) | |
| 10 | g.49611334C>A | CA469791364 | CHAT,SLC18A3 | c.594C>A (p.Ala198=) c.-69+2135C>A (n.-69+2135C>A) | |
| 10 | g.49611334C>G | CA469791363 | CHAT,SLC18A3 | c.594C>G (p.Ala198=) c.-69+2135C>G (n.-69+2135C>G) | |
| 10 | g.49611334C>T | CA469791362 | CHAT,SLC18A3 | c.594C>T (p.Ala198=) c.-69+2135C>T (n.-69+2135C>T) | |
| 10 | g.49611335A= | CA1908793373 | CHAT,SLC18A3 | c.595A= (p.Met199=) c.-69+2136A= (n.-69+2136A=) | |
| 10 | g.49611335A>C | CA376719596 | CHAT,SLC18A3 | c.595A>C (p.Met199Leu) c.-69+2136A>C (n.-69+2136A>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611335A>G | CA376719597 | CHAT,SLC18A3 | c.595A>G (p.Met199Val) c.-69+2136A>G (n.-69+2136A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611335A>T | CA376719601 | CHAT,SLC18A3 | c.595A>T (p.Met199Leu) c.-69+2136A>T (n.-69+2136A>T) | dbSNP |
| 10 | g.49611336T>A | CA376719605 | CHAT,SLC18A3 | c.596T>A (p.Met199Lys) c.-69+2137T>A (n.-69+2137T>A) | dbSNP |
| 10 | g.49611336T>C | CA376719608 | CHAT,SLC18A3 | c.596T>C (p.Met199Thr) c.-69+2137T>C (n.-69+2137T>C) | gnomAD v4 |
| 10 | g.49611336T>G | CA376719611 | CHAT,SLC18A3 | c.596T>G (p.Met199Arg) c.-69+2137T>G (n.-69+2137T>G) | |
| 10 | g.49611336T= | CA1908793385 | CHAT,SLC18A3 | c.596T= (p.Met199=) c.-69+2137T= (n.-69+2137T=) | |
| 10 | g.49611337G>A | CA376719622 | CHAT,SLC18A3 | c.597G>A (p.Met199Ile) c.-69+2138G>A (n.-69+2138G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611337G>C | CA376719619 | CHAT,SLC18A3 | c.597G>C (p.Met199Ile) c.-69+2138G>C (n.-69+2138G>C) | COSMIC |
| 10 | g.49611337G= | CA1908793389 | CHAT,SLC18A3 | c.597G= (p.Met199=) c.-69+2138G= (n.-69+2138G=) | |
| 10 | g.49611337G>T | CA376719615 | CHAT,SLC18A3 | c.597G>T (p.Met199Ile) c.-69+2138G>T (n.-69+2138G>T) | |
| 10 | g.49611338A>C | CA376719628 | CHAT,SLC18A3 | c.598A>C (p.Ile200Leu) c.-69+2139A>C (n.-69+2139A>C) | |
| 10 | g.49611338A>G | CA376719633 | CHAT,SLC18A3 | c.598A>G (p.Ile200Val) c.-69+2139A>G (n.-69+2139A>G) | |
| 10 | g.49611338A>T | CA376719630 | CHAT,SLC18A3 | c.598A>T (p.Ile200Phe) c.-69+2139A>T (n.-69+2139A>T) | |
| 10 | g.49611339T>A | CA376719637 | CHAT,SLC18A3 | c.599T>A (p.Ile200Asn) c.-69+2140T>A (n.-69+2140T>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611339T>C | CA376719639 | CHAT,SLC18A3 | c.599T>C (p.Ile200Thr) c.-69+2140T>C (n.-69+2140T>C) | |
| 10 | g.49611339T>G | CA376719647 | CHAT,SLC18A3 | c.599T>G (p.Ile200Ser) c.-69+2140T>G (n.-69+2140T>G) | |
| 10 | g.49611339T= | CA1908793393 | CHAT,SLC18A3 | c.599T= (p.Ile200=) c.-69+2140T= (n.-69+2140T=) | |
| 10 | g.49611340C>A | CA469791378 | CHAT,SLC18A3 | c.600C>A (p.Ile200=) c.-69+2141C>A (n.-69+2141C>A) | gnomAD v4 |
| 10 | g.49611340C= | CA1908793395 | CHAT,SLC18A3 | c.600C= (p.Ile200=) c.-69+2141C= (n.-69+2141C=) | |
| 10 | g.49611340C>G | CA376719649 | CHAT,SLC18A3 | c.600C>G (p.Ile200Met) c.-69+2141C>G (n.-69+2141C>G) | |
| 10 | g.49611340C>T | CA469791379 | CHAT,SLC18A3 | c.600C>T (p.Ile200=) c.-69+2141C>T (n.-69+2141C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611341G>A | CA376719650 | CHAT,SLC18A3 | c.601G>A (p.Ala201Thr) c.-69+2142G>A (n.-69+2142G>A) | gnomAD v4 |
| 10 | g.49611341G>C | CA376719651 | CHAT,SLC18A3 | c.601G>C (p.Ala201Pro) c.-69+2142G>C (n.-69+2142G>C) | |
| 10 | g.49611341G>T | CA376719653 | CHAT,SLC18A3 | c.601G>T (p.Ala201Ser) c.-69+2142G>T (n.-69+2142G>T) | |
| 10 | g.49611342C>A | CA376719656 | CHAT,SLC18A3 | c.602C>A (p.Ala201Asp) c.-69+2143C>A (n.-69+2143C>A) | |
| 10 | g.49611342C= | CA1908793399 | CHAT,SLC18A3 | c.602C= (p.Ala201=) c.-69+2143C= (n.-69+2143C=) | |
| 10 | g.49611342C>G | CA376719658 | CHAT,SLC18A3 | c.602C>G (p.Ala201Gly) c.-69+2143C>G (n.-69+2143C>G) | |
| 10 | g.49611342C>T | CA376719659 | CHAT,SLC18A3 | c.602C>T (p.Ala201Val) c.-69+2143C>T (n.-69+2143C>T) | dbSNP gnomAD v4 |
| 10 | g.49611343C>A | CA469791388 | CHAT,SLC18A3 | c.603C>A (p.Ala201=) c.-69+2144C>A (n.-69+2144C>A) | |
| 10 | g.49611343C= | CA1908793404 | CHAT,SLC18A3 | c.603C= (p.Ala201=) c.-69+2144C= (n.-69+2144C=) | |
| 10 | g.49611343C>G | CA206621073 | CHAT,SLC18A3 | c.603C>G (p.Ala201=) c.-69+2144C>G (n.-69+2144C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611343C>T | CA5496794 | CHAT,SLC18A3 | c.603C>T (p.Ala201=) c.-69+2144C>T (n.-69+2144C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611344G>A | CA376719666 | CHAT,SLC18A3 | c.604G>A (p.Asp202Asn) c.-69+2145G>A (n.-69+2145G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611344G>C | CA376719664 | CHAT,SLC18A3 | c.604G>C (p.Asp202His) c.-69+2145G>C (n.-69+2145G>C) | |
| 10 | g.49611344G= | CA1908793414 | CHAT,SLC18A3 | c.604G= (p.Asp202=) c.-69+2145G= (n.-69+2145G=) | |
| 10 | g.49611344G>T | CA376719663 | CHAT,SLC18A3 | c.604G>T (p.Asp202Tyr) c.-69+2145G>T (n.-69+2145G>T) | ClinVar |
| 10 | g.49611345A= | CA1908793425 | CHAT,SLC18A3 | c.605A= (p.Asp202=) c.-69+2146A= (n.-69+2146A=) | |
| 10 | g.49611345A>C | CA376719669 | CHAT,SLC18A3 | c.605A>C (p.Asp202Ala) c.-69+2146A>C (n.-69+2146A>C) | |
| 10 | g.49611345A>G | CA5496795 | CHAT,SLC18A3 | c.605A>G (p.Asp202Gly) c.-69+2146A>G (n.-69+2146A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611345A>T | CA376719672 | CHAT,SLC18A3 | c.605A>T (p.Asp202Val) c.-69+2146A>T (n.-69+2146A>T) | |
| 10 | g.49611346T>A | CA376719673 | CHAT,SLC18A3 | c.606T>A (p.Asp202Glu) c.-69+2147T>A (n.-69+2147T>A) | |
| 10 | g.49611346T>C | CA469791393 | CHAT,SLC18A3 | c.606T>C (p.Asp202=) c.-69+2147T>C (n.-69+2147T>C) | |
| 10 | g.49611346T>G | CA376719675 | CHAT,SLC18A3 | c.606T>G (p.Asp202Glu) c.-69+2147T>G (n.-69+2147T>G) | |
| 10 | g.49611346_49611354dup | CA2609115630 | CHAT,SLC18A3 | c.606_614dup (p.Pro205_Glu206insLysTyrPro) c.-69+2147_-69+2155dup (n.-69+2147_-69+2155dup) | gnomAD v4 |
| 10 | g.49611347A>C | CA376719678 | CHAT,SLC18A3 | c.607A>C (p.Lys203Gln) c.-69+2148A>C (n.-69+2148A>C) | |
| 10 | g.49611347A>G | CA376719680 | CHAT,SLC18A3 | c.607A>G (p.Lys203Glu) c.-69+2148A>G (n.-69+2148A>G) | |
| 10 | g.49611347A>T | CA376719681 | CHAT,SLC18A3 | c.607A>T (p.Lys203Ter) c.-69+2148A>T (n.-69+2148A>T) | |
| 10 | g.49611348A= | CA1908793429 | CHAT,SLC18A3 | c.608A= (p.Lys203=) c.-69+2149A= (n.-69+2149A=) | |
| 10 | g.49611348A>C | CA376719682 | CHAT,SLC18A3 | c.608A>C (p.Lys203Thr) c.-69+2149A>C (n.-69+2149A>C) | |
| 10 | g.49611348A>G | CA376719683 | CHAT,SLC18A3 | c.608A>G (p.Lys203Arg) c.-69+2149A>G (n.-69+2149A>G) | dbSNP gnomAD v2 |
| 10 | g.49611348A>T | CA376719686 | CHAT,SLC18A3 | c.608A>T (p.Lys203Met) c.-69+2149A>T (n.-69+2149A>T) | |
| 10 | g.49611349G>A | CA469791394 | CHAT,SLC18A3 | c.609G>A (p.Lys203=) c.-69+2150G>A (n.-69+2150G>A) | gnomAD v4 |
| 10 | g.49611349G>C | CA376719689 | CHAT,SLC18A3 | c.609G>C (p.Lys203Asn) c.-69+2150G>C (n.-69+2150G>C) | |
| 10 | g.49611349G= | CA1908793432 | CHAT,SLC18A3 | c.609G= (p.Lys203=) c.-69+2150G= (n.-69+2150G=) | |
| 10 | g.49611349G>T | CA376719691 | CHAT,SLC18A3 | c.609G>T (p.Lys203Asn) c.-69+2150G>T (n.-69+2150G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611350T>A | CA376719696 | CHAT,SLC18A3 | c.610T>A (p.Tyr204Asn) c.-69+2151T>A (n.-69+2151T>A) | |
| 10 | g.49611350T>C | CA376719699 | CHAT,SLC18A3 | c.610T>C (p.Tyr204His) c.-69+2151T>C (n.-69+2151T>C) | |
| 10 | g.49611350T>G | CA376719694 | CHAT,SLC18A3 | c.610T>G (p.Tyr204Asp) c.-69+2151T>G (n.-69+2151T>G) | |
| 10 | g.49611351A>C | CA376719704 | CHAT,SLC18A3 | c.611A>C (p.Tyr204Ser) c.-69+2152A>C (n.-69+2152A>C) | |
| 10 | g.49611351A>G | CA376719702 | CHAT,SLC18A3 | c.611A>G (p.Tyr204Cys) c.-69+2152A>G (n.-69+2152A>G) | |
| 10 | g.49611351A>T | CA376719706 | CHAT,SLC18A3 | c.611A>T (p.Tyr204Phe) c.-69+2152A>T (n.-69+2152A>T) | |
| 10 | g.49611352C>A | CA5496796 | CHAT,SLC18A3 | c.612C>A (p.Tyr204Ter) c.-69+2153C>A (n.-69+2153C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611352C= | CA1908793438 | CHAT,SLC18A3 | c.612C= (p.Tyr204=) c.-69+2153C= (n.-69+2153C=) | |
| 10 | g.49611352C>G | CA376719709 | CHAT,SLC18A3 | c.612C>G (p.Tyr204Ter) c.-69+2153C>G (n.-69+2153C>G) | |
| 10 | g.49611352C>T | CA469791401 | CHAT,SLC18A3 | c.612C>T (p.Tyr204=) c.-69+2153C>T (n.-69+2153C>T) | gnomAD v4 |
| 10 | g.49611353C>A | CA376719712 | CHAT,SLC18A3 | c.613C>A (p.Pro205Thr) c.-69+2154C>A (n.-69+2154C>A) | gnomAD v4 |
| 10 | g.49611353C= | CA1908793449 | CHAT,SLC18A3 | c.613C= (p.Pro205=) c.-69+2154C= (n.-69+2154C=) | |
| 10 | g.49611353C>G | CA376719714 | CHAT,SLC18A3 | c.613C>G (p.Pro205Ala) c.-69+2154C>G (n.-69+2154C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611353C>T | CA376719716 | CHAT,SLC18A3 | c.613C>T (p.Pro205Ser) c.-69+2154C>T (n.-69+2154C>T) | dbSNP gnomAD v4 |
| 10 | g.49611354C>A | CA376719717 | CHAT,SLC18A3 | c.614C>A (p.Pro205Gln) c.-69+2155C>A (n.-69+2155C>A) | gnomAD v4 |
| 10 | g.49611354C= | CA1908793453 | CHAT,SLC18A3 | c.614C= (p.Pro205=) c.-69+2155C= (n.-69+2155C=) | |
| 10 | g.49611354C>G | CA376719720 | CHAT,SLC18A3 | c.614C>G (p.Pro205Arg) c.-69+2155C>G (n.-69+2155C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611354C>T | CA206621083 | CHAT,SLC18A3 | c.614C>T (p.Pro205Leu) c.-69+2155C>T (n.-69+2155C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611355G>A | CA5496798 | CHAT,SLC18A3 | c.615G>A (p.Pro205=) c.-69+2156G>A (n.-69+2156G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611355G>C | CA5496797 | CHAT,SLC18A3 | c.615G>C (p.Pro205=) c.-69+2156G>C (n.-69+2156G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611355G= | CA1908793458 | CHAT,SLC18A3 | c.615G= (p.Pro205=) c.-69+2156G= (n.-69+2156G=) | |
| 10 | g.49611355G>T | CA469791407 | CHAT,SLC18A3 | c.615G>T (p.Pro205=) c.-69+2156G>T (n.-69+2156G>T) | |
| 10 | g.49611356G>A | CA206621089 | CHAT,SLC18A3 | c.616G>A (p.Glu206Lys) c.-69+2157G>A (n.-69+2157G>A) | dbSNP |
| 10 | g.49611356G>C | CA376719731 | CHAT,SLC18A3 | c.616G>C (p.Glu206Gln) c.-69+2157G>C (n.-69+2157G>C) | |
| 10 | g.49611356G= | CA1908793471 | CHAT,SLC18A3 | c.616G= (p.Glu206=) c.-69+2157G= (n.-69+2157G=) | |
| 10 | g.49611356G>T | CA376719735 | CHAT,SLC18A3 | c.616G>T (p.Glu206Ter) c.-69+2157G>T (n.-69+2157G>T) | |
| 10 | g.49611357A= | CA1908793476 | CHAT,SLC18A3 | c.617A= (p.Glu206=) c.-69+2158A= (n.-69+2158A=) | |
| 10 | g.49611357A>C | CA376719742 | CHAT,SLC18A3 | c.617A>C (p.Glu206Ala) c.-69+2158A>C (n.-69+2158A>C) | |
| 10 | g.49611357A>G | CA5496799 | CHAT,SLC18A3 | c.617A>G (p.Glu206Gly) c.-69+2158A>G (n.-69+2158A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611357A>T | CA376719740 | CHAT,SLC18A3 | c.617A>T (p.Glu206Val) c.-69+2158A>T (n.-69+2158A>T) | |
| 10 | g.49611358G>A | CA469791408 | CHAT,SLC18A3 | c.618G>A (p.Glu206=) c.-69+2159G>A (n.-69+2159G>A) | |
| 10 | g.49611358G>C | CA376719744 | CHAT,SLC18A3 | c.618G>C (p.Glu206Asp) c.-69+2159G>C (n.-69+2159G>C) | gnomAD v4 |
| 10 | g.49611358G>T | CA376719745 | CHAT,SLC18A3 | c.618G>T (p.Glu206Asp) c.-69+2159G>T (n.-69+2159G>T) | COSMIC |
| 10 | g.49611359G>A | CA376719746 | CHAT,SLC18A3 | c.619G>A (p.Glu207Lys) c.-69+2160G>A (n.-69+2160G>A) | gnomAD v4 |
| 10 | g.49611359G>C | CA376719747 | CHAT,SLC18A3 | c.619G>C (p.Glu207Gln) c.-69+2160G>C (n.-69+2160G>C) | |
| 10 | g.49611359G>T | CA376719748 | CHAT,SLC18A3 | c.619G>T (p.Glu207Ter) c.-69+2160G>T (n.-69+2160G>T) | |
| 10 | g.49611360A= | CA1908793479 | CHAT,SLC18A3 | c.620A= (p.Glu207=) c.-69+2161A= (n.-69+2161A=) | |
| 10 | g.49611360A>C | CA376719752 | CHAT,SLC18A3 | c.620A>C (p.Glu207Ala) c.-69+2161A>C (n.-69+2161A>C) | |
| 10 | g.49611360A>G | CA376719754 | CHAT,SLC18A3 | c.620A>G (p.Glu207Gly) c.-69+2161A>G (n.-69+2161A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611360A>T | CA376719755 | CHAT,SLC18A3 | c.620A>T (p.Glu207Val) c.-69+2161A>T (n.-69+2161A>T) | |
| 10 | g.49611360_49611368delinsAGCCGGAGC | CA1908793480 | CHAT,SLC18A3 | c.620_628delinsAGCCGGAGC (p.Glu207=) c.-69+2161_-69+2169delinsAGCCGGAGC (n.-69+2161_-69+2169delinsAGCCGGAGC) | |
| 10 | g.49611361G>A | CA5496800 | CHAT,SLC18A3 | c.621G>A (p.Glu207=) c.-69+2162G>A (n.-69+2162G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611361G>C | CA376719764 | CHAT,SLC18A3 | c.621G>C (p.Glu207Asp) c.-69+2162G>C (n.-69+2162G>C) | |
| 10 | g.49611361G= | CA1908793488 | CHAT,SLC18A3 | c.621G= (p.Glu207=) c.-69+2162G= (n.-69+2162G=) | |
| 10 | g.49611361G>T | CA376719766 | CHAT,SLC18A3 | c.621G>T (p.Glu207Asp) c.-69+2162G>T (n.-69+2162G>T) | |
| 10 | g.49611363_49611370del | CA918671466 | CHAT,SLC18A3 | c.623_630del (p.Pro208GlnfsTer12) c.-69+2164_-69+2171del (n.-69+2164_-69+2171del) | dbSNP |
| 10 | g.49611362C>A | CA376719773 | CHAT,SLC18A3 | c.622C>A (p.Pro208Thr) c.-69+2163C>A (n.-69+2163C>A) | gnomAD v4 |
| 10 | g.49611362C= | CA1908793491 | CHAT,SLC18A3 | c.622C= (p.Pro208=) c.-69+2163C= (n.-69+2163C=) | |
| 10 | g.49611362C>G | CA376719776 | CHAT,SLC18A3 | c.622C>G (p.Pro208Ala) c.-69+2163C>G (n.-69+2163C>G) | gnomAD v4 |
| 10 | g.49611362C>T | CA5496801 | CHAT,SLC18A3 | c.622C>T (p.Pro208Ser) c.-69+2163C>T (n.-69+2163C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611363C>A | CA376719779 | CHAT,SLC18A3 | c.623C>A (p.Pro208Gln) c.-69+2164C>A (n.-69+2164C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611363C= | CA1908793496 | CHAT,SLC18A3 | c.623C= (p.Pro208=) c.-69+2164C= (n.-69+2164C=) | |
| 10 | g.49611363C>G | CA5496802 | CHAT,SLC18A3 | c.623C>G (p.Pro208Arg) c.-69+2164C>G (n.-69+2164C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611363C>T | CA5496803 | CHAT,SLC18A3 | c.623C>T (p.Pro208Leu) c.-69+2164C>T (n.-69+2164C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611364G>A | CA469791423 | CHAT,SLC18A3 | c.624G>A (p.Pro208=) c.-69+2165G>A (n.-69+2165G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611364G>C | CA469791425 | CHAT,SLC18A3 | c.624G>C (p.Pro208=) c.-69+2165G>C (n.-69+2165G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611364G= | CA1908793505 | CHAT,SLC18A3 | c.624G= (p.Pro208=) c.-69+2165G= (n.-69+2165G=) | |
| 10 | g.49611364G>T | CA469791424 | CHAT,SLC18A3 | c.624G>T (p.Pro208=) c.-69+2165G>T (n.-69+2165G>T) | gnomAD v4 |
| 10 | g.49611365G>A | CA376719788 | CHAT,SLC18A3 | c.625G>A (p.Glu209Lys) c.-69+2166G>A (n.-69+2166G>A) | |
| 10 | g.49611365G>C | CA5496804 | CHAT,SLC18A3 | c.625G>C (p.Glu209Gln) c.-69+2166G>C (n.-69+2166G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611365G= | CA1908793507 | CHAT,SLC18A3 | c.625G= (p.Glu209=) c.-69+2166G= (n.-69+2166G=) | |
| 10 | g.49611365G>T | CA376719792 | CHAT,SLC18A3 | c.625G>T (p.Glu209Ter) c.-69+2166G>T (n.-69+2166G>T) | gnomAD v4 |
| 10 | g.49611366A>C | CA376719801 | CHAT,SLC18A3 | c.626A>C (p.Glu209Ala) c.-69+2167A>C (n.-69+2167A>C) | |
| 10 | g.49611366A>G | CA376719795 | CHAT,SLC18A3 | c.626A>G (p.Glu209Gly) c.-69+2167A>G (n.-69+2167A>G) | gnomAD v4 |
| 10 | g.49611366A>T | CA376719798 | CHAT,SLC18A3 | c.626A>T (p.Glu209Val) c.-69+2167A>T (n.-69+2167A>T) | |
| 10 | g.49611367G>A | CA469791435 | CHAT,SLC18A3 | c.627G>A (p.Glu209=) c.-69+2168G>A (n.-69+2168G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611367G>C | CA376719804 | CHAT,SLC18A3 | c.627G>C (p.Glu209Asp) c.-69+2168G>C (n.-69+2168G>C) | |
| 10 | g.49611367G= | CA1908793511 | CHAT,SLC18A3 | c.627G= (p.Glu209=) c.-69+2168G= (n.-69+2168G=) | |
| 10 | g.49611367G>T | CA376719806 | CHAT,SLC18A3 | c.627G>T (p.Glu209Asp) c.-69+2168G>T (n.-69+2168G>T) | dbSNP |
| 10 | g.49611368C>A | CA376719810 | CHAT,SLC18A3 | c.628C>A (p.Arg210Ser) c.-69+2169C>A (n.-69+2169C>A) | gnomAD v4 |
| 10 | g.49611368C= | CA1908793516 | CHAT,SLC18A3 | c.628C= (p.Arg210=) c.-69+2169C= (n.-69+2169C=) | |
| 10 | g.49611368C>G | CA376719813 | CHAT,SLC18A3 | c.628C>G (p.Arg210Gly) c.-69+2169C>G (n.-69+2169C>G) | |
| 10 | g.49611368C>T | CA5496805 | CHAT,SLC18A3 | c.628C>T (p.Arg210Cys) c.-69+2169C>T (n.-69+2169C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611369G>A | CA376719819 | CHAT,SLC18A3 | c.629G>A (p.Arg210His) c.-69+2170G>A (n.-69+2170G>A) | gnomAD v4 |
| 10 | g.49611369G>C | CA5496806 | CHAT,SLC18A3 | c.629G>C (p.Arg210Pro) c.-69+2170G>C (n.-69+2170G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611369G= | CA1908793523 | CHAT,SLC18A3 | c.629G= (p.Arg210=) c.-69+2170G= (n.-69+2170G=) | |
| 10 | g.49611369G>T | CA376719821 | CHAT,SLC18A3 | c.629G>T (p.Arg210Leu) c.-69+2170G>T (n.-69+2170G>T) | |
| 10 | g.49611370C>A | CA469791450 | CHAT,SLC18A3 | c.630C>A (p.Arg210=) c.-69+2171C>A (n.-69+2171C>A) | |
| 10 | g.49611370C>G | CA469791457 | CHAT,SLC18A3 | c.630C>G (p.Arg210=) c.-69+2171C>G (n.-69+2171C>G) | |
| 10 | g.49611370C>T | CA469791455 | CHAT,SLC18A3 | c.630C>T (p.Arg210=) c.-69+2171C>T (n.-69+2171C>T) | |
| 10 | g.49611371A= | CA1908793530 | CHAT,SLC18A3 | c.631A= (p.Ser211=) c.-69+2172A= (n.-69+2172A=) | |
| 10 | g.49611371A>C | CA376719822 | CHAT,SLC18A3 | c.631A>C (p.Ser211Arg) c.-69+2172A>C (n.-69+2172A>C) | |
| 10 | g.49611371A>G | CA376719823 | CHAT,SLC18A3 | c.631A>G (p.Ser211Gly) c.-69+2172A>G (n.-69+2172A>G) | |
| 10 | g.49611371A>T | CA376719825 | CHAT,SLC18A3 | c.631A>T (p.Ser211Cys) c.-69+2172A>T (n.-69+2172A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611372G>A | CA376719827 | CHAT,SLC18A3 | c.632G>A (p.Ser211Asn) c.-69+2173G>A (n.-69+2173G>A) | |
| 10 | g.49611372G>C | CA376719829 | CHAT,SLC18A3 | c.632G>C (p.Ser211Thr) c.-69+2173G>C (n.-69+2173G>C) | |
| 10 | g.49611372G>T | CA376719831 | CHAT,SLC18A3 | c.632G>T (p.Ser211Ile) c.-69+2173G>T (n.-69+2173G>T) | gnomAD v4 |
| 10 | g.49611373T>A | CA376719834 | CHAT,SLC18A3 | c.633T>A (p.Ser211Arg) c.-69+2174T>A (n.-69+2174T>A) | |
| 10 | g.49611373T>C | CA206621114 | CHAT,SLC18A3 | c.633T>C (p.Ser211=) c.-69+2174T>C (n.-69+2174T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611373T>G | CA376719836 | CHAT,SLC18A3 | c.633T>G (p.Ser211Arg) c.-69+2174T>G (n.-69+2174T>G) | |
| 10 | g.49611373T= | CA1908793533 | CHAT,SLC18A3 | c.633T= (p.Ser211=) c.-69+2174T= (n.-69+2174T=) | |
| 10 | g.49611374C>A | CA376719839 | CHAT,SLC18A3 | c.634C>A (p.Arg212Ser) c.-69+2175C>A (n.-69+2175C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611374C= | CA1908793541 | CHAT,SLC18A3 | c.634C= (p.Arg212=) c.-69+2175C= (n.-69+2175C=) | |
| 10 | g.49611374C>G | CA376719842 | CHAT,SLC18A3 | c.634C>G (p.Arg212Gly) c.-69+2175C>G (n.-69+2175C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611374C>T | CA5496807 | CHAT,SLC18A3 | c.634C>T (p.Arg212Cys) c.-69+2175C>T (n.-69+2175C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611375G>A | CA376719859 | CHAT,SLC18A3 | c.635G>A (p.Arg212His) c.-69+2176G>A (n.-69+2176G>A) | dbSNP gnomAD v4 |
| 10 | g.49611375G>C | CA376719852 | CHAT,SLC18A3 | c.635G>C (p.Arg212Pro) c.-69+2176G>C (n.-69+2176G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611375G= | CA1908793550 | CHAT,SLC18A3 | c.635G= (p.Arg212=) c.-69+2176G= (n.-69+2176G=) | |
| 10 | g.49611375G>T | CA376719849 | CHAT,SLC18A3 | c.635G>T (p.Arg212Leu) c.-69+2176G>T (n.-69+2176G>T) | gnomAD v4 |
| 10 | g.49611376T>A | CA469791474 | CHAT,SLC18A3 | c.636T>A (p.Arg212=) c.-69+2177T>A (n.-69+2177T>A) | |
| 10 | g.49611376T>C | CA5496808 | CHAT,SLC18A3 | c.636T>C (p.Arg212=) c.-69+2177T>C (n.-69+2177T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611376T>G | CA469791475 | CHAT,SLC18A3 | c.636T>G (p.Arg212=) c.-69+2177T>G (n.-69+2177T>G) | |
| 10 | g.49611376T= | CA1908793560 | CHAT,SLC18A3 | c.636T= (p.Arg212=) c.-69+2177T= (n.-69+2177T=) | |
| 10 | g.49611377G>A | CA5496809 | CHAT,SLC18A3 | c.637G>A (p.Ala213Thr) c.-69+2178G>A (n.-69+2178G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611377G>C | CA376719865 | CHAT,SLC18A3 | c.637G>C (p.Ala213Pro) c.-69+2178G>C (n.-69+2178G>C) | |
| 10 | g.49611377G= | CA1908793569 | CHAT,SLC18A3 | c.637G= (p.Ala213=) c.-69+2178G= (n.-69+2178G=) | |
| 10 | g.49611377G>T | CA376719868 | CHAT,SLC18A3 | c.637G>T (p.Ala213Ser) c.-69+2178G>T (n.-69+2178G>T) | gnomAD v4 |
| 10 | g.49611378C>A | CA376719873 | CHAT,SLC18A3 | c.638C>A (p.Ala213Glu) c.-69+2179C>A (n.-69+2179C>A) | |
| 10 | g.49611378C= | CA1908793573 | CHAT,SLC18A3 | c.638C= (p.Ala213=) c.-69+2179C= (n.-69+2179C=) | |
| 10 | g.49611378C>G | CA376719876 | CHAT,SLC18A3 | c.638C>G (p.Ala213Gly) c.-69+2179C>G (n.-69+2179C>G) | |
| 10 | g.49611378C>T | CA376719883 | CHAT,SLC18A3 | c.638C>T (p.Ala213Val) c.-69+2179C>T (n.-69+2179C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611379A= | CA1908793577 | CHAT,SLC18A3 | c.639A= (p.Ala213=) c.-69+2180A= (n.-69+2180A=) | |
| 10 | g.49611379A>C | CA5496810 | CHAT,SLC18A3 | c.639A>C (p.Ala213=) c.-69+2180A>C (n.-69+2180A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611379A>G | CA469791489 | CHAT,SLC18A3 | c.639A>G (p.Ala213=) c.-69+2180A>G (n.-69+2180A>G) | |
| 10 | g.49611379A>T | CA469791492 | CHAT,SLC18A3 | c.639A>T (p.Ala213=) c.-69+2180A>T (n.-69+2180A>T) | |
| 10 | g.49611380C>A | CA376719887 | CHAT,SLC18A3 | c.640C>A (p.Leu214Met) c.-69+2181C>A (n.-69+2181C>A) | gnomAD v4 |
| 10 | g.49611380C>G | CA376719888 | CHAT,SLC18A3 | c.640C>G (p.Leu214Val) c.-69+2181C>G (n.-69+2181C>G) | |
| 10 | g.49611380C>T | CA469791493 | CHAT,SLC18A3 | c.640C>T (p.Leu214=) c.-69+2181C>T (n.-69+2181C>T) | gnomAD v4 |
| 10 | g.49611381T>A | CA376719892 | CHAT,SLC18A3 | c.641T>A (p.Leu214Gln) c.-69+2182T>A (n.-69+2182T>A) | |
| 10 | g.49611381T>C | CA376719895 | CHAT,SLC18A3 | c.641T>C (p.Leu214Pro) c.-69+2182T>C (n.-69+2182T>C) | gnomAD v4 |
| 10 | g.49611381T>G | CA376719898 | CHAT,SLC18A3 | c.641T>G (p.Leu214Arg) c.-69+2182T>G (n.-69+2182T>G) | |
| 10 | g.49611382G>A | CA5496811 | CHAT,SLC18A3 | c.642G>A (p.Leu214=) c.-69+2183G>A (n.-69+2183G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611382G>C | CA469791498 | CHAT,SLC18A3 | c.642G>C (p.Leu214=) c.-69+2183G>C (n.-69+2183G>C) | |
| 10 | g.49611382G= | CA1908793583 | CHAT,SLC18A3 | c.642G= (p.Leu214=) c.-69+2183G= (n.-69+2183G=) | |
| 10 | g.49611382G>T | CA469791502 | CHAT,SLC18A3 | c.642G>T (p.Leu214=) c.-69+2183G>T (n.-69+2183G>T) | gnomAD v4 |
| 10 | g.49611383G>A | CA376719918 | CHAT,SLC18A3 | c.643G>A (p.Gly215Ser) c.-69+2184G>A (n.-69+2184G>A) | |
| 10 | g.49611383G>C | CA376719905 | CHAT,SLC18A3 | c.643G>C (p.Gly215Arg) c.-69+2184G>C (n.-69+2184G>C) | |
| 10 | g.49611383G>T | CA376719917 | CHAT,SLC18A3 | c.643G>T (p.Gly215Cys) c.-69+2184G>T (n.-69+2184G>T) | |
| 10 | g.49611384G>A | CA376719921 | CHAT,SLC18A3 | c.644G>A (p.Gly215Asp) c.-69+2185G>A (n.-69+2185G>A) | gnomAD v4 |
| 10 | g.49611384G>C | CA376719923 | CHAT,SLC18A3 | c.644G>C (p.Gly215Ala) c.-69+2185G>C (n.-69+2185G>C) | |
| 10 | g.49611384G>T | CA376719925 | CHAT,SLC18A3 | c.644G>T (p.Gly215Val) c.-69+2185G>T (n.-69+2185G>T) | |
| 10 | g.49611385C>A | CA469791509 | CHAT,SLC18A3 | c.645C>A (p.Gly215=) c.-69+2186C>A (n.-69+2186C>A) | |
| 10 | g.49611385C= | CA1908793589 | CHAT,SLC18A3 | c.645C= (p.Gly215=) c.-69+2186C= (n.-69+2186C=) | |
| 10 | g.49611385C>G | CA5496812 | CHAT,SLC18A3 | c.645C>G (p.Gly215=) c.-69+2186C>G (n.-69+2186C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611385C>T | CA469791510 | CHAT,SLC18A3 | c.645C>T (p.Gly215=) c.-69+2186C>T (n.-69+2186C>T) | gnomAD v4 |
| 10 | g.49611386G>A | CA376719929 | CHAT,SLC18A3 | c.646G>A (p.Val216Met) c.-69+2187G>A (n.-69+2187G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.49611386G>C | CA376719933 | CHAT,SLC18A3 | c.646G>C (p.Val216Leu) c.-69+2187G>C (n.-69+2187G>C) | |
| 10 | g.49611386G= | CA1908793596 | CHAT,SLC18A3 | c.646G= (p.Val216=) c.-69+2187G= (n.-69+2187G=) | |
| 10 | g.49611386G>T | CA5496813 | CHAT,SLC18A3 | c.646G>T (p.Val216Leu) c.-69+2187G>T (n.-69+2187G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611387T>A | CA376719945 | CHAT,SLC18A3 | c.647T>A (p.Val216Glu) c.-69+2188T>A (n.-69+2188T>A) | |
| 10 | g.49611387T>C | CA376719947 | CHAT,SLC18A3 | c.647T>C (p.Val216Ala) c.-69+2188T>C (n.-69+2188T>C) | |
| 10 | g.49611387T>G | CA376719949 | CHAT,SLC18A3 | c.647T>G (p.Val216Gly) c.-69+2188T>G (n.-69+2188T>G) | |
| 10 | g.49611388G>A | CA469791519 | CHAT,SLC18A3 | c.648G>A (p.Val216=) c.-69+2189G>A (n.-69+2189G>A) | |
| 10 | g.49611388G>C | CA469791520 | CHAT,SLC18A3 | c.648G>C (p.Val216=) c.-69+2189G>C (n.-69+2189G>C) | |
| 10 | g.49611388G>T | CA469791521 | CHAT,SLC18A3 | c.648G>T (p.Val216=) c.-69+2189G>T (n.-69+2189G>T) | |
| 10 | g.49611389G>A | CA376719952 | CHAT,SLC18A3 | c.649G>A (p.Ala217Thr) c.-69+2190G>A (n.-69+2190G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611389G>C | CA376719955 | CHAT,SLC18A3 | c.649G>C (p.Ala217Pro) c.-69+2190G>C (n.-69+2190G>C) | |
| 10 | g.49611389G= | CA1908793600 | CHAT,SLC18A3 | c.649G= (p.Ala217=) c.-69+2190G= (n.-69+2190G=) | |
| 10 | g.49611389G>T | CA376719958 | CHAT,SLC18A3 | c.649G>T (p.Ala217Ser) c.-69+2190G>T (n.-69+2190G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611390C>A | CA376719963 | CHAT,SLC18A3 | c.650C>A (p.Ala217Glu) c.-69+2191C>A (n.-69+2191C>A) | |
| 10 | g.49611390C= | CA1908793603 | CHAT,SLC18A3 | c.650C= (p.Ala217=) c.-69+2191C= (n.-69+2191C=) | |
| 10 | g.49611390C>G | CA376719966 | CHAT,SLC18A3 | c.650C>G (p.Ala217Gly) c.-69+2191C>G (n.-69+2191C>G) | gnomAD v4 |
| 10 | g.49611390C>T | CA376719964 | CHAT,SLC18A3 | c.650C>T (p.Ala217Val) c.-69+2191C>T (n.-69+2191C>T) | dbSNP gnomAD v2 COSMIC |
| 10 | g.49611391G>A | CA5496814 | CHAT,SLC18A3 | c.651G>A (p.Ala217=) c.-69+2192G>A (n.-69+2192G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611391G>C | CA469791532 | CHAT,SLC18A3 | c.651G>C (p.Ala217=) c.-69+2192G>C (n.-69+2192G>C) | |
| 10 | g.49611391G= | CA1908793613 | CHAT,SLC18A3 | c.651G= (p.Ala217=) c.-69+2192G= (n.-69+2192G=) | |
| 10 | g.49611391G>T | CA469791534 | CHAT,SLC18A3 | c.651G>T (p.Ala217=) c.-69+2192G>T (n.-69+2192G>T) | dbSNP gnomAD v4 |
| 10 | g.49611392C>A | CA376719973 | CHAT,SLC18A3 | c.652C>A (p.Leu218Met) c.-69+2193C>A (n.-69+2193C>A) | |
| 10 | g.49611392C= | CA1908793625 | CHAT,SLC18A3 | c.652C= (p.Leu218=) c.-69+2193C= (n.-69+2193C=) | |
| 10 | g.49611392C>G | CA376719976 | CHAT,SLC18A3 | c.652C>G (p.Leu218Val) c.-69+2193C>G (n.-69+2193C>G) | dbSNP gnomAD v4 |
| 10 | g.49611392C>T | CA469791542 | CHAT,SLC18A3 | c.652C>T (p.Leu218=) c.-69+2193C>T (n.-69+2193C>T) | dbSNP gnomAD v4 |
| 10 | g.49611393T>A | CA376719981 | CHAT,SLC18A3 | c.653T>A (p.Leu218Gln) c.-69+2194T>A (n.-69+2194T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611393T>C | CA376719984 | CHAT,SLC18A3 | c.653T>C (p.Leu218Pro) c.-69+2194T>C (n.-69+2194T>C) | |
| 10 | g.49611393T>G | CA376719987 | CHAT,SLC18A3 | c.653T>G (p.Leu218Arg) c.-69+2194T>G (n.-69+2194T>G) | |
| 10 | g.49611393T= | CA1908793629 | CHAT,SLC18A3 | c.653T= (p.Leu218=) c.-69+2194T= (n.-69+2194T=) | |
| 10 | g.49611394G>A | CA469791553 | CHAT,SLC18A3 | c.654G>A (p.Leu218=) c.-69+2195G>A (n.-69+2195G>A) | |
| 10 | g.49611394G>C | CA469791555 | CHAT,SLC18A3 | c.654G>C (p.Leu218=) c.-69+2195G>C (n.-69+2195G>C) | |
| 10 | g.49611394G>T | CA469791556 | CHAT,SLC18A3 | c.654G>T (p.Leu218=) c.-69+2195G>T (n.-69+2195G>T) | |
| 10 | g.49611395G>A | CA376719991 | CHAT,SLC18A3 | c.655G>A (p.Ala219Thr) c.-69+2196G>A (n.-69+2196G>A) | gnomAD v4 |
| 10 | g.49611395G>C | CA376719992 | CHAT,SLC18A3 | c.655G>C (p.Ala219Pro) c.-69+2196G>C (n.-69+2196G>C) | |
| 10 | g.49611395G= | CA1908793635 | CHAT,SLC18A3 | c.655G= (p.Ala219=) c.-69+2196G= (n.-69+2196G=) | |
| 10 | g.49611395G>T | CA376719994 | CHAT,SLC18A3 | c.655G>T (p.Ala219Ser) c.-69+2196G>T (n.-69+2196G>T) | dbSNP COSMIC |
| 10 | g.49611396C>A | CA376719998 | CHAT,SLC18A3 | c.656C>A (p.Ala219Asp) c.-69+2197C>A (n.-69+2197C>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611396C>G | CA376720001 | CHAT,SLC18A3 | c.656C>G (p.Ala219Gly) c.-69+2197C>G (n.-69+2197C>G) | |
| 10 | g.49611396C>T | CA376720004 | CHAT,SLC18A3 | c.656C>T (p.Ala219Val) c.-69+2197C>T (n.-69+2197C>T) | gnomAD v4 |
| 10 | g.49611397C>A | CA469791560 | CHAT,SLC18A3 | c.657C>A (p.Ala219=) c.-69+2198C>A (n.-69+2198C>A) | |
| 10 | g.49611397C>G | CA469791559 | CHAT,SLC18A3 | c.657C>G (p.Ala219=) c.-69+2198C>G (n.-69+2198C>G) | |
| 10 | g.49611397C>T | CA469791561 | CHAT,SLC18A3 | c.657C>T (p.Ala219=) c.-69+2198C>T (n.-69+2198C>T) | gnomAD v4 |
| 10 | g.49611398T>A | CA376720012 | CHAT,SLC18A3 | c.658T>A (p.Phe220Ile) c.-69+2199T>A (n.-69+2199T>A) | |
| 10 | g.49611398T>C | CA376720007 | CHAT,SLC18A3 | c.658T>C (p.Phe220Leu) c.-69+2199T>C (n.-69+2199T>C) | |
| 10 | g.49611398T>G | CA376720009 | CHAT,SLC18A3 | c.658T>G (p.Phe220Val) c.-69+2199T>G (n.-69+2199T>G) | |
| 10 | g.49611399T>A | CA376720014 | CHAT,SLC18A3 | c.659T>A (p.Phe220Tyr) c.-69+2200T>A (n.-69+2200T>A) | |
| 10 | g.49611399T>C | CA376720015 | CHAT,SLC18A3 | c.659T>C (p.Phe220Ser) c.-69+2200T>C (n.-69+2200T>C) | |
| 10 | g.49611399T>G | CA376720017 | CHAT,SLC18A3 | c.659T>G (p.Phe220Cys) c.-69+2200T>G (n.-69+2200T>G) | |
| 10 | g.49611400C>A | CA376720021 | CHAT,SLC18A3 | c.660C>A (p.Phe220Leu) c.-69+2201C>A (n.-69+2201C>A) | |
| 10 | g.49611400C>G | CA376720025 | CHAT,SLC18A3 | c.660C>G (p.Phe220Leu) c.-69+2201C>G (n.-69+2201C>G) | |
| 10 | g.49611400C>T | CA469791568 | CHAT,SLC18A3 | c.660C>T (p.Phe220=) c.-69+2201C>T (n.-69+2201C>T) | |
| 10 | g.49611401A>C | CA376720027 | CHAT,SLC18A3 | c.661A>C (p.Ile221Leu) c.-69+2202A>C (n.-69+2202A>C) | gnomAD v4 |
| 10 | g.49611401A>G | CA376720029 | CHAT,SLC18A3 | c.661A>G (p.Ile221Val) c.-69+2202A>G (n.-69+2202A>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611401A>T | CA376720032 | CHAT,SLC18A3 | c.661A>T (p.Ile221Phe) c.-69+2202A>T (n.-69+2202A>T) | |
| 10 | g.49611402T>A | CA376720036 | CHAT,SLC18A3 | c.662T>A (p.Ile221Asn) c.-69+2203T>A (n.-69+2203T>A) | |
| 10 | g.49611402T>C | CA376720038 | CHAT,SLC18A3 | c.662T>C (p.Ile221Thr) c.-69+2203T>C (n.-69+2203T>C) | |
| 10 | g.49611402T>G | CA376720041 | CHAT,SLC18A3 | c.662T>G (p.Ile221Ser) c.-69+2203T>G (n.-69+2203T>G) | |
| 10 | g.49611403T>A | CA469791598 | CHAT,SLC18A3 | c.663T>A (p.Ile221=) c.-69+2204T>A (n.-69+2204T>A) | |
| 10 | g.49611403T>C | CA469791580 | CHAT,SLC18A3 | c.663T>C (p.Ile221=) c.-69+2204T>C (n.-69+2204T>C) | |
| 10 | g.49611403T>G | CA376720045 | CHAT,SLC18A3 | c.663T>G (p.Ile221Met) c.-69+2204T>G (n.-69+2204T>G) | |
| 10 | g.49611403_49611404delinsTA | CA1908793640 | CHAT,SLC18A3 | c.663_664delinsTA (p.Ile221=) c.-69+2204_-69+2205delinsTA (n.-69+2204_-69+2205delinsTA) | |
| 10 | g.49611404del | CA593780768 | CHAT,SLC18A3 | c.664del (p.Ser222AlafsTer5) c.-69+2205del (n.-69+2205del) | dbSNP gnomAD v2 |
| 10 | g.49611404A>C | CA376720063 | CHAT,SLC18A3 | c.664A>C (p.Ser222Arg) c.-69+2205A>C (n.-69+2205A>C) | |
| 10 | g.49611404A>G | CA376720058 | CHAT,SLC18A3 | c.664A>G (p.Ser222Gly) c.-69+2205A>G (n.-69+2205A>G) | |
| 10 | g.49611404A>T | CA376720056 | CHAT,SLC18A3 | c.664A>T (p.Ser222Cys) c.-69+2205A>T (n.-69+2205A>T) | |
| 10 | g.49611405G>A | CA376720068 | CHAT,SLC18A3 | c.665G>A (p.Ser222Asn) c.-69+2206G>A (n.-69+2206G>A) | |
| 10 | g.49611405G>C | CA376720066 | CHAT,SLC18A3 | c.665G>C (p.Ser222Thr) c.-69+2206G>C (n.-69+2206G>C) | dbSNP gnomAD v2 |
| 10 | g.49611405G= | CA1908793648 | CHAT,SLC18A3 | c.665G= (p.Ser222=) c.-69+2206G= (n.-69+2206G=) | |
| 10 | g.49611405G>T | CA376720070 | CHAT,SLC18A3 | c.665G>T (p.Ser222Ile) c.-69+2206G>T (n.-69+2206G>T) |