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.49655144T>A | CA376747371 | CHAT | c.1684T>A (p.Phe562Ile) c.*521T>A (n.*521T>A) n.321T>A c.547T>A (p.Phe183Ile) c.1330T>A (p.Phe444Ile) c.1438T>A (p.Phe480Ile) c.*1415T>A (n.*1415T>A) | |
| 10 | g.49655144T>C | CA376747428 | CHAT | c.1684T>C (p.Phe562Leu) c.*521T>C (n.*521T>C) n.321T>C c.547T>C (p.Phe183Leu) c.1330T>C (p.Phe444Leu) c.1438T>C (p.Phe480Leu) c.*1415T>C (n.*1415T>C) | gnomAD v4 |
| 10 | g.49655144T>G | CA376747430 | CHAT | c.1684T>G (p.Phe562Val) c.*521T>G (n.*521T>G) n.321T>G c.547T>G (p.Phe183Val) c.1330T>G (p.Phe444Val) c.1438T>G (p.Phe480Val) c.*1415T>G (n.*1415T>G) | |
| 10 | g.49655145T>A | CA376747436 | CHAT | c.1685T>A (p.Phe562Tyr) c.*522T>A (n.*522T>A) n.322T>A c.548T>A (p.Phe183Tyr) c.1331T>A (p.Phe444Tyr) c.1439T>A (p.Phe480Tyr) c.*1416T>A (n.*1416T>A) | |
| 10 | g.49655145T>C | CA376747439 | CHAT | c.1685T>C (p.Phe562Ser) c.*522T>C (n.*522T>C) n.322T>C c.548T>C (p.Phe183Ser) c.1331T>C (p.Phe444Ser) c.1439T>C (p.Phe480Ser) c.*1416T>C (n.*1416T>C) | gnomAD v4 |
| 10 | g.49655145T>G | CA376747443 | CHAT | c.1685T>G (p.Phe562Cys) c.*522T>G (n.*522T>G) n.322T>G c.548T>G (p.Phe183Cys) c.1331T>G (p.Phe444Cys) c.1439T>G (p.Phe480Cys) c.*1416T>G (n.*1416T>G) | |
| 10 | g.49655146C>A | CA376747447 | CHAT | c.1686C>A (p.Phe562Leu) c.*523C>A (n.*523C>A) n.323C>A c.549C>A (p.Phe183Leu) c.1332C>A (p.Phe444Leu) c.1440C>A (p.Phe480Leu) c.*1417C>A (n.*1417C>A) | |
| 10 | g.49655146C>G | CA376747451 | CHAT | c.1686C>G (p.Phe562Leu) c.*523C>G (n.*523C>G) n.323C>G c.549C>G (p.Phe183Leu) c.1332C>G (p.Phe444Leu) c.1440C>G (p.Phe480Leu) c.*1417C>G (n.*1417C>G) | |
| 10 | g.49655146C>T | CA469605670 | CHAT | c.1686C>T (p.Phe562=) c.*523C>T (n.*523C>T) n.323C>T c.549C>T (p.Phe183=) c.1332C>T (p.Phe444=) c.1440C>T (p.Phe480=) c.*1417C>T (n.*1417C>T) | |
| 10 | g.49655147C>A | CA376747455 | CHAT | c.1687C>A (p.Gln563Lys) c.*524C>A (n.*524C>A) n.324C>A c.550C>A (p.Gln184Lys) c.1333C>A (p.Gln445Lys) c.1441C>A (p.Gln481Lys) c.*1418C>A (n.*1418C>A) | |
| 10 | g.49655147C>G | CA376747462 | CHAT | c.1687C>G (p.Gln563Glu) c.*524C>G (n.*524C>G) n.324C>G c.550C>G (p.Gln184Glu) c.1333C>G (p.Gln445Glu) c.1441C>G (p.Gln481Glu) c.*1418C>G (n.*1418C>G) | |
| 10 | g.49655147C>T | CA376747458 | CHAT | c.1687C>T (p.Gln563Ter) c.*524C>T (n.*524C>T) n.324C>T c.550C>T (p.Gln184Ter) c.1333C>T (p.Gln445Ter) c.1441C>T (p.Gln481Ter) c.*1418C>T (n.*1418C>T) | gnomAD v4 |
| 10 | g.49655148A>C | CA376747467 | CHAT | c.1688A>C (p.Gln563Pro) c.*525A>C (n.*525A>C) n.325A>C c.551A>C (p.Gln184Pro) c.1334A>C (p.Gln445Pro) c.1442A>C (p.Gln481Pro) c.*1419A>C (n.*1419A>C) | |
| 10 | g.49655148A>G | CA376747470 | CHAT | c.1688A>G (p.Gln563Arg) c.*525A>G (n.*525A>G) n.325A>G c.551A>G (p.Gln184Arg) c.1334A>G (p.Gln445Arg) c.1442A>G (p.Gln481Arg) c.*1419A>G (n.*1419A>G) | |
| 10 | g.49655148A>T | CA376747476 | CHAT | c.1688A>T (p.Gln563Leu) c.*525A>T (n.*525A>T) n.325A>T c.551A>T (p.Gln184Leu) c.1334A>T (p.Gln445Leu) c.1442A>T (p.Gln481Leu) c.*1419A>T (n.*1419A>T) | |
| 10 | g.49655149G>A | CA469605672 | CHAT | c.1689G>A (p.Gln563=) c.*526G>A (n.*526G>A) n.326G>A c.552G>A (p.Gln184=) c.1335G>A (p.Gln445=) c.1443G>A (p.Gln481=) c.*1420G>A (n.*1420G>A) | |
| 10 | g.49655149G>C | CA376747478 | CHAT | c.1689G>C (p.Gln563His) c.*526G>C (n.*526G>C) n.326G>C c.552G>C (p.Gln184His) c.1335G>C (p.Gln445His) c.1443G>C (p.Gln481His) c.*1420G>C (n.*1420G>C) | |
| 10 | g.49655149G>T | CA376747481 | CHAT | c.1689G>T (p.Gln563His) c.*526G>T (n.*526G>T) n.326G>T c.552G>T (p.Gln184His) c.1335G>T (p.Gln445His) c.1443G>T (p.Gln481His) c.*1420G>T (n.*1420G>T) | |
| 10 | g.49655150G>A | CA376747491 | CHAT | c.1690G>A (p.Glu564Lys) c.*527G>A (n.*527G>A) n.327G>A c.553G>A (p.Glu185Lys) c.1336G>A (p.Glu446Lys) c.1444G>A (p.Glu482Lys) c.*1421G>A (n.*1421G>A) | |
| 10 | g.49655150G>C | CA376747493 | CHAT | c.1690G>C (p.Glu564Gln) c.*527G>C (n.*527G>C) n.327G>C c.553G>C (p.Glu185Gln) c.1336G>C (p.Glu446Gln) c.1444G>C (p.Glu482Gln) c.*1421G>C (n.*1421G>C) | |
| 10 | g.49655150G>T | CA376747497 | CHAT | c.1690G>T (p.Glu564Ter) c.*527G>T (n.*527G>T) n.327G>T c.553G>T (p.Glu185Ter) c.1336G>T (p.Glu446Ter) c.1444G>T (p.Glu482Ter) c.*1421G>T (n.*1421G>T) | |
| 10 | g.49655151A>C | CA376747500 | CHAT | c.1691A>C (p.Glu564Ala) c.*528A>C (n.*528A>C) n.328A>C c.554A>C (p.Glu185Ala) c.1337A>C (p.Glu446Ala) c.1445A>C (p.Glu482Ala) c.*1422A>C (n.*1422A>C) | gnomAD v4 |
| 10 | g.49655151A>G | CA376747503 | CHAT | c.1691A>G (p.Glu564Gly) c.*528A>G (n.*528A>G) n.328A>G c.554A>G (p.Glu185Gly) c.1337A>G (p.Glu446Gly) c.1445A>G (p.Glu482Gly) c.*1422A>G (n.*1422A>G) | gnomAD v4 |
| 10 | g.49655151A>T | CA376747504 | CHAT | c.1691A>T (p.Glu564Val) c.*528A>T (n.*528A>T) n.328A>T c.554A>T (p.Glu185Val) c.1337A>T (p.Glu446Val) c.1445A>T (p.Glu482Val) c.*1422A>T (n.*1422A>T) | |
| 10 | g.49655152G>A | CA469605675 | CHAT | c.1692G>A (p.Glu564=) c.*529G>A (n.*529G>A) n.329G>A c.555G>A (p.Glu185=) c.1338G>A (p.Glu446=) c.1446G>A (p.Glu482=) c.*1423G>A (n.*1423G>A) | |
| 10 | g.49655152G>C | CA376747505 | CHAT | c.1692G>C (p.Glu564Asp) c.*529G>C (n.*529G>C) n.329G>C c.555G>C (p.Glu185Asp) c.1338G>C (p.Glu446Asp) c.1446G>C (p.Glu482Asp) c.*1423G>C (n.*1423G>C) | |
| 10 | g.49655152G>T | CA376747506 | CHAT | c.1692G>T (p.Glu564Asp) c.*529G>T (n.*529G>T) n.329G>T c.555G>T (p.Glu185Asp) c.1338G>T (p.Glu446Asp) c.1446G>T (p.Glu482Asp) c.*1423G>T (n.*1423G>T) | |
| 10 | g.49655153G>A | CA376747509 | CHAT | c.1693G>A (p.Gly565Arg) c.*530G>A (n.*530G>A) n.330G>A c.556G>A (p.Gly186Arg) c.1339G>A (p.Gly447Arg) c.1447G>A (p.Gly483Arg) c.*1424G>A (n.*1424G>A) | |
| 10 | g.49655153G>C | CA376747510 | CHAT | c.1693G>C (p.Gly565Arg) c.*530G>C (n.*530G>C) n.330G>C c.556G>C (p.Gly186Arg) c.1339G>C (p.Gly447Arg) c.1447G>C (p.Gly483Arg) c.*1424G>C (n.*1424G>C) | |
| 10 | g.49655153G>T | CA376747512 | CHAT | c.1693G>T (p.Gly565Ter) c.*530G>T (n.*530G>T) n.330G>T c.556G>T (p.Gly186Ter) c.1339G>T (p.Gly447Ter) c.1447G>T (p.Gly483Ter) c.*1424G>T (n.*1424G>T) | |
| 10 | g.49655154G>A | CA206641780 | CHAT | c.1694G>A (p.Gly565Glu) c.*531G>A (n.*531G>A) n.331G>A c.557G>A (p.Gly186Glu) c.1340G>A (p.Gly447Glu) c.1448G>A (p.Gly483Glu) c.*1425G>A (n.*1425G>A) | dbSNP COSMIC COSMIC |
| 10 | g.49655154G>C | CA376747522 | CHAT | c.1694G>C (p.Gly565Ala) c.*531G>C (n.*531G>C) n.331G>C c.557G>C (p.Gly186Ala) c.1340G>C (p.Gly447Ala) c.1448G>C (p.Gly483Ala) c.*1425G>C (n.*1425G>C) | |
| 10 | g.49655154G= | CA1908834656 | CHAT | c.1694G= (p.Gly565=) c.*531G= (n.*531G=) n.331G= c.557G= (p.Gly186=) c.1340G= (p.Gly447=) c.1448G= (p.Gly483=) c.*1425G= (n.*1425G=) | |
| 10 | g.49655154G>T | CA376747525 | CHAT | c.1694G>T (p.Gly565Val) c.*531G>T (n.*531G>T) n.331G>T c.557G>T (p.Gly186Val) c.1340G>T (p.Gly447Val) c.1448G>T (p.Gly483Val) c.*1425G>T (n.*1425G>T) | |
| 10 | g.49655155A= | CA1908834657 | CHAT | c.1695A= (p.Gly565=) c.*532A= (n.*532A=) n.332A= c.558A= (p.Gly186=) c.1341A= (p.Gly447=) c.1449A= (p.Gly483=) c.*1426A= (n.*1426A=) | |
| 10 | g.49655155A>C | CA469605678 | CHAT | c.1695A>C (p.Gly565=) c.*532A>C (n.*532A>C) n.332A>C c.558A>C (p.Gly186=) c.1341A>C (p.Gly447=) c.1449A>C (p.Gly483=) c.*1426A>C (n.*1426A>C) | ClinVar |
| 10 | g.49655155A>G | CA469605677 | CHAT | c.1695A>G (p.Gly565=) c.*532A>G (n.*532A>G) n.332A>G c.558A>G (p.Gly186=) c.1341A>G (p.Gly447=) c.1449A>G (p.Gly483=) c.*1426A>G (n.*1426A>G) | dbSNP gnomAD v4 |
| 10 | g.49655155A>T | CA469605679 | CHAT | c.1695A>T (p.Gly565=) c.*532A>T (n.*532A>T) n.332A>T c.558A>T (p.Gly186=) c.1341A>T (p.Gly447=) c.1449A>T (p.Gly483=) c.*1426A>T (n.*1426A>T) | |
| 10 | g.49655156C>A | CA376747530 | CHAT | c.1696C>A (p.Arg566Ser) c.*533C>A (n.*533C>A) n.333C>A c.559C>A (p.Arg187Ser) c.1342C>A (p.Arg448Ser) c.1450C>A (p.Arg484Ser) c.*1427C>A (n.*1427C>A) | gnomAD v4 COSMIC COSMIC |
| 10 | g.49655156C= | CA1908834658 | CHAT | c.1696C= (p.Arg566=) c.*533C= (n.*533C=) n.333C= c.559C= (p.Arg187=) c.1342C= (p.Arg448=) c.1450C= (p.Arg484=) c.*1427C= (n.*1427C=) | |
| 10 | g.49655156C>G | CA376747536 | CHAT | c.1696C>G (p.Arg566Gly) c.*533C>G (n.*533C>G) n.333C>G c.559C>G (p.Arg187Gly) c.1342C>G (p.Arg448Gly) c.1450C>G (p.Arg484Gly) c.*1427C>G (n.*1427C>G) | |
| 10 | g.49655156C>T | CA5497596 | CHAT | c.1696C>T (p.Arg566Cys) c.*533C>T (n.*533C>T) n.333C>T c.559C>T (p.Arg187Cys) c.1342C>T (p.Arg448Cys) c.1450C>T (p.Arg484Cys) c.*1427C>T (n.*1427C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49655157G>A | CA376747543 | CHAT | c.1697G>A (p.Arg566His) c.*534G>A (n.*534G>A) n.334G>A c.560G>A (p.Arg187His) c.1343G>A (p.Arg448His) c.1451G>A (p.Arg484His) c.*1428G>A (n.*1428G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655157G>C | CA376747546 | CHAT | c.1697G>C (p.Arg566Pro) c.*534G>C (n.*534G>C) n.334G>C c.560G>C (p.Arg187Pro) c.1343G>C (p.Arg448Pro) c.1451G>C (p.Arg484Pro) c.*1428G>C (n.*1428G>C) | ClinVar dbSNP |
| 10 | g.49655157G= | CA1908834659 | CHAT | c.1697G= (p.Arg566=) c.*534G= (n.*534G=) n.334G= c.560G= (p.Arg187=) c.1343G= (p.Arg448=) c.1451G= (p.Arg484=) c.*1428G= (n.*1428G=) | |
| 10 | g.49655157G>T | CA376747550 | CHAT | c.1697G>T (p.Arg566Leu) c.*534G>T (n.*534G>T) n.334G>T c.560G>T (p.Arg187Leu) c.1343G>T (p.Arg448Leu) c.1451G>T (p.Arg484Leu) c.*1428G>T (n.*1428G>T) | |
| 10 | g.49655158C>A | CA469605680 | CHAT | c.1698C>A (p.Arg566=) c.*535C>A (n.*535C>A) n.335C>A c.561C>A (p.Arg187=) c.1344C>A (p.Arg448=) c.1452C>A (p.Arg484=) c.*1429C>A (n.*1429C>A) | |
| 10 | g.49655158C= | CA1908834660 | CHAT | c.1698C= (p.Arg566=) c.*535C= (n.*535C=) n.335C= c.561C= (p.Arg187=) c.1344C= (p.Arg448=) c.1452C= (p.Arg484=) c.*1429C= (n.*1429C=) | |
| 10 | g.49655158C>G | CA469605681 | CHAT | c.1698C>G (p.Arg566=) c.*535C>G (n.*535C>G) n.335C>G c.561C>G (p.Arg187=) c.1344C>G (p.Arg448=) c.1452C>G (p.Arg484=) c.*1429C>G (n.*1429C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655158C>T | CA5497597 | CHAT | c.1698C>T (p.Arg566=) c.*535C>T (n.*535C>T) n.335C>T c.561C>T (p.Arg187=) c.1344C>T (p.Arg448=) c.1452C>T (p.Arg484=) c.*1429C>T (n.*1429C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49655159G>A | CA5497598 | CHAT | c.1699G>A (p.Val567Met) c.*536G>A (n.*536G>A) n.336G>A c.562G>A (p.Val188Met) c.1345G>A (p.Val449Met) c.1453G>A (p.Val485Met) c.*1430G>A (n.*1430G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49655159G>C | CA376747552 | CHAT | c.1699G>C (p.Val567Leu) c.*536G>C (n.*536G>C) n.336G>C c.562G>C (p.Val188Leu) c.1345G>C (p.Val449Leu) c.1453G>C (p.Val485Leu) c.*1430G>C (n.*1430G>C) | |
| 10 | g.49655159G= | CA1908834661 | CHAT | c.1699G= (p.Val567=) c.*536G= (n.*536G=) n.336G= c.562G= (p.Val188=) c.1345G= (p.Val449=) c.1453G= (p.Val485=) c.*1430G= (n.*1430G=) | |
| 10 | g.49655159G>T | CA376747554 | CHAT | c.1699G>T (p.Val567Leu) c.*536G>T (n.*536G>T) n.336G>T c.562G>T (p.Val188Leu) c.1345G>T (p.Val449Leu) c.1453G>T (p.Val485Leu) c.*1430G>T (n.*1430G>T) | |
| 10 | g.49655160T>A | CA376747558 | CHAT | c.1700T>A (p.Val567Glu) c.*537T>A (n.*537T>A) n.337T>A c.563T>A (p.Val188Glu) c.1346T>A (p.Val449Glu) c.1454T>A (p.Val485Glu) c.*1431T>A (n.*1431T>A) | |
| 10 | g.49655160T>C | CA376747580 | CHAT | c.1700T>C (p.Val567Ala) c.*537T>C (n.*537T>C) n.337T>C c.563T>C (p.Val188Ala) c.1346T>C (p.Val449Ala) c.1454T>C (p.Val485Ala) c.*1431T>C (n.*1431T>C) | ClinVar dbSNP |
| 10 | g.49655160T>G | CA376747582 | CHAT | c.1700T>G (p.Val567Gly) c.*537T>G (n.*537T>G) n.337T>G c.563T>G (p.Val188Gly) c.1346T>G (p.Val449Gly) c.1454T>G (p.Val485Gly) c.*1431T>G (n.*1431T>G) | |
| 10 | g.49655160T= | CA1908834662 | CHAT | c.1700T= (p.Val567=) c.*537T= (n.*537T=) n.337T= c.563T= (p.Val188=) c.1346T= (p.Val449=) c.1454T= (p.Val485=) c.*1431T= (n.*1431T=) | |
| 10 | g.49655161G>A | CA469605683 | CHAT | c.1701G>A (p.Val567=) c.*538G>A (n.*538G>A) n.338G>A c.564G>A (p.Val188=) c.1347G>A (p.Val449=) c.1455G>A (p.Val485=) c.*1432G>A (n.*1432G>A) | |
| 10 | g.49655161G>C | CA469605682 | CHAT | c.1701G>C (p.Val567=) c.*538G>C (n.*538G>C) n.338G>C c.564G>C (p.Val188=) c.1347G>C (p.Val449=) c.1455G>C (p.Val485=) c.*1432G>C (n.*1432G>C) | |
| 10 | g.49655161G>T | CA469605684 | CHAT | c.1701G>T (p.Val567=) c.*538G>T (n.*538G>T) n.338G>T c.564G>T (p.Val188=) c.1347G>T (p.Val449=) c.1455G>T (p.Val485=) c.*1432G>T (n.*1432G>T) | ClinVar gnomAD v4 |
| 10 | g.49655162G>A | CA376747585 | CHAT | c.1702G>A (p.Asp568Asn) c.*539G>A (n.*539G>A) n.339G>A c.565G>A (p.Asp189Asn) c.1348G>A (p.Asp450Asn) c.1456G>A (p.Asp486Asn) c.*1433G>A (n.*1433G>A) | dbSNP |
| 10 | g.49655162G>C | CA376747587 | CHAT | c.1702G>C (p.Asp568His) c.*539G>C (n.*539G>C) n.339G>C c.565G>C (p.Asp189His) c.1348G>C (p.Asp450His) c.1456G>C (p.Asp486His) c.*1433G>C (n.*1433G>C) | |
| 10 | g.49655162G= | CA1908834663 | CHAT | c.1702G= (p.Asp568=) c.*539G= (n.*539G=) n.339G= c.565G= (p.Asp189=) c.1348G= (p.Asp450=) c.1456G= (p.Asp486=) c.*1433G= (n.*1433G=) | |
| 10 | g.49655162G>T | CA376747591 | CHAT | c.1702G>T (p.Asp568Tyr) c.*539G>T (n.*539G>T) n.339G>T c.565G>T (p.Asp189Tyr) c.1348G>T (p.Asp450Tyr) c.1456G>T (p.Asp486Tyr) c.*1433G>T (n.*1433G>T) | |
| 10 | g.49655162_49655165delinsGACA | CA1908834664 | CHAT | c.1702_1705delinsGACA (p.Asp568=) c.*539_*542delinsGACA (n.*539_*542delinsGACA) n.339_342delinsGACA c.565_568delinsGACA (p.Asp189=) c.1348_1351delinsGACA (p.Asp450=) c.1456_1459delinsGACA (p.Asp486=) c.*1433_*1436delinsGACA (n.*1433_*1436delinsGACA) | |
| 10 | g.49655163A= | CA1908834666 | CHAT | c.1703A= (p.Asp568=) c.*540A= (n.*540A=) n.340A= c.566A= (p.Asp189=) c.1349A= (p.Asp450=) c.1457A= (p.Asp486=) c.*1434A= (n.*1434A=) | |
| 10 | g.49655163A>C | CA376747595 | CHAT | c.1703A>C (p.Asp568Ala) c.*540A>C (n.*540A>C) n.340A>C c.566A>C (p.Asp189Ala) c.1349A>C (p.Asp450Ala) c.1457A>C (p.Asp486Ala) c.*1434A>C (n.*1434A>C) | |
| 10 | g.49655163A>G | CA376747599 | CHAT | c.1703A>G (p.Asp568Gly) c.*540A>G (n.*540A>G) n.340A>G c.566A>G (p.Asp189Gly) c.1349A>G (p.Asp450Gly) c.1457A>G (p.Asp486Gly) c.*1434A>G (n.*1434A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655163A>T | CA376747603 | CHAT | c.1703A>T (p.Asp568Val) c.*540A>T (n.*540A>T) n.340A>T c.566A>T (p.Asp189Val) c.1349A>T (p.Asp450Val) c.1457A>T (p.Asp486Val) c.*1434A>T (n.*1434A>T) | |
| 10 | g.49655166_49655168dup | CA1908834665 | CHAT | c.1706_1708dup (p.Asn569_Ile570insAsn) c.*543_*545dup (n.*543_*545dup) n.343_345dup c.569_571dup (p.Asn190_Ile191insAsn) c.1352_1354dup (p.Asn451_Ile452insAsn) c.1460_1462dup (p.Asn487_Ile488insAsn) c.*1437_*1439dup (n.*1437_*1439dup) | dbSNP |
| 10 | g.49655166_49655168del | CA5497599 | CHAT | c.1706_1708del (p.Asn569del) c.*543_*545del (n.*543_*545del) n.343_345del c.569_571del (p.Asn190del) c.1352_1354del (p.Asn451del) c.1460_1462del (p.Asn487del) c.*1437_*1439del (n.*1437_*1439del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655164C>A | CA376747607 | CHAT | c.1704C>A (p.Asp568Glu) c.*541C>A (n.*541C>A) n.341C>A c.567C>A (p.Asp189Glu) c.1350C>A (p.Asp450Glu) c.1458C>A (p.Asp486Glu) c.*1435C>A (n.*1435C>A) | |
| 10 | g.49655164C>G | CA376747610 | CHAT | c.1704C>G (p.Asp568Glu) c.*541C>G (n.*541C>G) n.341C>G c.567C>G (p.Asp189Glu) c.1350C>G (p.Asp450Glu) c.1458C>G (p.Asp486Glu) c.*1435C>G (n.*1435C>G) | |
| 10 | g.49655164C>T | CA469605685 | CHAT | c.1704C>T (p.Asp568=) c.*541C>T (n.*541C>T) n.341C>T c.567C>T (p.Asp189=) c.1350C>T (p.Asp450=) c.1458C>T (p.Asp486=) c.*1435C>T (n.*1435C>T) | |
| 10 | g.49655165A>C | CA376747612 | CHAT | c.1705A>C (p.Asn569His) c.*542A>C (n.*542A>C) n.342A>C c.568A>C (p.Asn190His) c.1351A>C (p.Asn451His) c.1459A>C (p.Asn487His) c.*1436A>C (n.*1436A>C) | |
| 10 | g.49655165A>G | CA376747620 | CHAT | c.1705A>G (p.Asn569Asp) c.*542A>G (n.*542A>G) n.342A>G c.568A>G (p.Asn190Asp) c.1351A>G (p.Asn451Asp) c.1459A>G (p.Asn487Asp) c.*1436A>G (n.*1436A>G) | |
| 10 | g.49655165A>T | CA376747615 | CHAT | c.1705A>T (p.Asn569Tyr) c.*542A>T (n.*542A>T) n.342A>T c.568A>T (p.Asn190Tyr) c.1351A>T (p.Asn451Tyr) c.1459A>T (p.Asn487Tyr) c.*1436A>T (n.*1436A>T) | |
| 10 | g.49655166A>C | CA376747625 | CHAT | c.1706A>C (p.Asn569Thr) c.*543A>C (n.*543A>C) n.343A>C c.569A>C (p.Asn190Thr) c.1352A>C (p.Asn451Thr) c.1460A>C (p.Asn487Thr) c.*1437A>C (n.*1437A>C) | gnomAD v4 |
| 10 | g.49655166A>G | CA376747635 | CHAT | c.1706A>G (p.Asn569Ser) c.*543A>G (n.*543A>G) n.343A>G c.569A>G (p.Asn190Ser) c.1352A>G (p.Asn451Ser) c.1460A>G (p.Asn487Ser) c.*1437A>G (n.*1437A>G) | |
| 10 | g.49655166A>T | CA376747629 | CHAT | c.1706A>T (p.Asn569Ile) c.*543A>T (n.*543A>T) n.343A>T c.569A>T (p.Asn190Ile) c.1352A>T (p.Asn451Ile) c.1460A>T (p.Asn487Ile) c.*1437A>T (n.*1437A>T) | |
| 10 | g.49655167C>A | CA376747639 | CHAT | c.1707C>A (p.Asn569Lys) c.*544C>A (n.*544C>A) n.344C>A c.570C>A (p.Asn190Lys) c.1353C>A (p.Asn451Lys) c.1461C>A (p.Asn487Lys) c.*1438C>A (n.*1438C>A) | |
| 10 | g.49655167C>G | CA376747642 | CHAT | c.1707C>G (p.Asn569Lys) c.*544C>G (n.*544C>G) n.344C>G c.570C>G (p.Asn190Lys) c.1353C>G (p.Asn451Lys) c.1461C>G (p.Asn487Lys) c.*1438C>G (n.*1438C>G) | |
| 10 | g.49655167C>T | CA469605687 | CHAT | c.1707C>T (p.Asn569=) c.*544C>T (n.*544C>T) n.344C>T c.570C>T (p.Asn190=) c.1353C>T (p.Asn451=) c.1461C>T (p.Asn487=) c.*1438C>T (n.*1438C>T) | |
| 10 | g.49655168A>C | CA376747658 | CHAT | c.1708A>C (p.Ile570Leu) c.*545A>C (n.*545A>C) n.345A>C c.571A>C (p.Ile191Leu) c.1354A>C (p.Ile452Leu) c.1462A>C (p.Ile488Leu) c.*1439A>C (n.*1439A>C) | |
| 10 | g.49655168A>G | CA376747661 | CHAT | c.1708A>G (p.Ile570Val) c.*545A>G (n.*545A>G) n.345A>G c.571A>G (p.Ile191Val) c.1354A>G (p.Ile452Val) c.1462A>G (p.Ile488Val) c.*1439A>G (n.*1439A>G) | |
| 10 | g.49655168A>T | CA376747664 | CHAT | c.1708A>T (p.Ile570Phe) c.*545A>T (n.*545A>T) n.345A>T c.571A>T (p.Ile191Phe) c.1354A>T (p.Ile452Phe) c.1462A>T (p.Ile488Phe) c.*1439A>T (n.*1439A>T) | |
| 10 | g.49655169T>A | CA376747667 | CHAT | c.1709T>A (p.Ile570Asn) c.*546T>A (n.*546T>A) n.346T>A c.572T>A (p.Ile191Asn) c.1355T>A (p.Ile452Asn) c.1463T>A (p.Ile488Asn) c.*1440T>A (n.*1440T>A) | |
| 10 | g.49655169T>C | CA376747670 | CHAT | c.1709T>C (p.Ile570Thr) c.*546T>C (n.*546T>C) n.346T>C c.572T>C (p.Ile191Thr) c.1355T>C (p.Ile452Thr) c.1463T>C (p.Ile488Thr) c.*1440T>C (n.*1440T>C) | gnomAD v4 |
| 10 | g.49655169T>G | CA376747675 | CHAT | c.1709T>G (p.Ile570Ser) c.*546T>G (n.*546T>G) n.346T>G c.572T>G (p.Ile191Ser) c.1355T>G (p.Ile452Ser) c.1463T>G (p.Ile488Ser) c.*1440T>G (n.*1440T>G) | |
| 10 | g.49655170C>A | CA469605689 | CHAT | c.1710C>A (p.Ile570=) c.*547C>A (n.*547C>A) n.347C>A c.573C>A (p.Ile191=) c.1356C>A (p.Ile452=) c.1464C>A (p.Ile488=) c.*1441C>A (n.*1441C>A) | |
| 10 | g.49655170C>G | CA376747681 | CHAT | c.1710C>G (p.Ile570Met) c.*547C>G (n.*547C>G) n.347C>G c.573C>G (p.Ile191Met) c.1356C>G (p.Ile452Met) c.1464C>G (p.Ile488Met) c.*1441C>G (n.*1441C>G) | |
| 10 | g.49655170C>T | CA469605690 | CHAT | c.1710C>T (p.Ile570=) c.*547C>T (n.*547C>T) n.347C>T c.573C>T (p.Ile191=) c.1356C>T (p.Ile452=) c.1464C>T (p.Ile488=) c.*1441C>T (n.*1441C>T) | |
| 10 | g.49655171A>C | CA469605691 | CHAT | c.1711A>C (p.Arg571=) c.*548A>C (n.*548A>C) n.348A>C c.574A>C (p.Arg192=) c.1357A>C (p.Arg453=) c.1465A>C (p.Arg489=) c.*1442A>C (n.*1442A>C) | |
| 10 | g.49655171A>G | CA376747684 | CHAT | c.1711A>G (p.Arg571Gly) c.*548A>G (n.*548A>G) n.348A>G c.574A>G (p.Arg192Gly) c.1357A>G (p.Arg453Gly) c.1465A>G (p.Arg489Gly) c.*1442A>G (n.*1442A>G) | gnomAD v4 |
| 10 | g.49655171A>T | CA376747686 | CHAT | c.1711A>T (p.Arg571Ter) c.*548A>T (n.*548A>T) n.348A>T c.574A>T (p.Arg192Ter) c.1357A>T (p.Arg453Ter) c.1465A>T (p.Arg489Ter) c.*1442A>T (n.*1442A>T) | |
| 10 | g.49655172G>A | CA376747693 | CHAT | c.1712G>A (p.Arg571Lys) c.*549G>A (n.*549G>A) n.349G>A c.575G>A (p.Arg192Lys) c.1358G>A (p.Arg453Lys) c.1466G>A (p.Arg489Lys) c.*1443G>A (n.*1443G>A) | gnomAD v4 COSMIC COSMIC |
| 10 | g.49655172G>C | CA376747691 | CHAT | c.1712G>C (p.Arg571Thr) c.*549G>C (n.*549G>C) n.349G>C c.575G>C (p.Arg192Thr) c.1358G>C (p.Arg453Thr) c.1466G>C (p.Arg489Thr) c.*1443G>C (n.*1443G>C) | gnomAD v3 |
| 10 | g.49655172G>T | CA376747688 | CHAT | c.1712G>T (p.Arg571Ile) c.*549G>T (n.*549G>T) n.349G>T c.575G>T (p.Arg192Ile) c.1358G>T (p.Arg453Ile) c.1466G>T (p.Arg489Ile) c.*1443G>T (n.*1443G>T) | |
| 10 | g.49655173A>C | CA376747696 | CHAT | c.1713A>C (p.Arg571Ser) c.*550A>C (n.*550A>C) n.350A>C c.576A>C (p.Arg192Ser) c.1359A>C (p.Arg453Ser) c.1467A>C (p.Arg489Ser) c.*1444A>C (n.*1444A>C) | |
| 10 | g.49655173A>G | CA469605692 | CHAT | c.1713A>G (p.Arg571=) c.*550A>G (n.*550A>G) n.350A>G c.576A>G (p.Arg192=) c.1359A>G (p.Arg453=) c.1467A>G (p.Arg489=) c.*1444A>G (n.*1444A>G) | gnomAD v4 |
| 10 | g.49655173A>T | CA376747698 | CHAT | c.1713A>T (p.Arg571Ser) c.*550A>T (n.*550A>T) n.350A>T c.576A>T (p.Arg192Ser) c.1359A>T (p.Arg453Ser) c.1467A>T (p.Arg489Ser) c.*1444A>T (n.*1444A>T) | |
| 10 | g.49655174T>A | CA376747700 | CHAT | c.1714T>A (p.Ser572Thr) c.*551T>A (n.*551T>A) n.351T>A c.577T>A (p.Ser193Thr) c.1360T>A (p.Ser454Thr) c.1468T>A (p.Ser490Thr) c.*1445T>A (n.*1445T>A) | |
| 10 | g.49655174T>C | CA376747702 | CHAT | c.1714T>C (p.Ser572Pro) c.*551T>C (n.*551T>C) n.351T>C c.577T>C (p.Ser193Pro) c.1360T>C (p.Ser454Pro) c.1468T>C (p.Ser490Pro) c.*1445T>C (n.*1445T>C) | |
| 10 | g.49655174T>G | CA376747704 | CHAT | c.1714T>G (p.Ser572Ala) c.*551T>G (n.*551T>G) n.351T>G c.577T>G (p.Ser193Ala) c.1360T>G (p.Ser454Ala) c.1468T>G (p.Ser490Ala) c.*1445T>G (n.*1445T>G) | |
| 10 | g.49655175C>A | CA376747707 | CHAT | c.1715C>A (p.Ser572Ter) c.*552C>A (n.*552C>A) n.352C>A c.578C>A (p.Ser193Ter) c.1361C>A (p.Ser454Ter) c.1469C>A (p.Ser490Ter) c.*1446C>A (n.*1446C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655175C= | CA1908834667 | CHAT | c.1715C= (p.Ser572=) c.*552C= (n.*552C=) n.352C= c.578C= (p.Ser193=) c.1361C= (p.Ser454=) c.1469C= (p.Ser490=) c.*1446C= (n.*1446C=) | |
| 10 | g.49655175C>G | CA5497600 | CHAT | c.1715C>G (p.Ser572Trp) c.*552C>G (n.*552C>G) n.352C>G c.578C>G (p.Ser193Trp) c.1361C>G (p.Ser454Trp) c.1469C>G (p.Ser490Trp) c.*1446C>G (n.*1446C>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 10 | g.49655175C>T | CA376747712 | CHAT | c.1715C>T (p.Ser572Leu) c.*552C>T (n.*552C>T) n.352C>T c.578C>T (p.Ser193Leu) c.1361C>T (p.Ser454Leu) c.1469C>T (p.Ser490Leu) c.*1446C>T (n.*1446C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655176G>A | CA5497601 | CHAT | c.1716G>A (p.Ser572=) c.*553G>A (n.*553G>A) n.353G>A c.579G>A (p.Ser193=) c.1362G>A (p.Ser454=) c.1470G>A (p.Ser490=) c.*1447G>A (n.*1447G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655176G>C | CA469605695 | CHAT | c.1716G>C (p.Ser572=) c.*553G>C (n.*553G>C) n.353G>C c.579G>C (p.Ser193=) c.1362G>C (p.Ser454=) c.1470G>C (p.Ser490=) c.*1447G>C (n.*1447G>C) | |
| 10 | g.49655176G= | CA1908834668 | CHAT | c.1716G= (p.Ser572=) c.*553G= (n.*553G=) n.353G= c.579G= (p.Ser193=) c.1362G= (p.Ser454=) c.1470G= (p.Ser490=) c.*1447G= (n.*1447G=) | |
| 10 | g.49655176G>T | CA469605696 | CHAT | c.1716G>T (p.Ser572=) c.*553G>T (n.*553G>T) n.353G>T c.579G>T (p.Ser193=) c.1362G>T (p.Ser454=) c.1470G>T (p.Ser490=) c.*1447G>T (n.*1447G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655177G>A | CA376747718 | CHAT | c.1717G>A (p.Ala573Thr) c.*554G>A (n.*554G>A) n.354G>A c.580G>A (p.Ala194Thr) c.1363G>A (p.Ala455Thr) c.1471G>A (p.Ala491Thr) c.*1448G>A (n.*1448G>A) | dbSNP |
| 10 | g.49655177G>C | CA376747721 | CHAT | c.1717G>C (p.Ala573Pro) c.*554G>C (n.*554G>C) n.354G>C c.580G>C (p.Ala194Pro) c.1363G>C (p.Ala455Pro) c.1471G>C (p.Ala491Pro) c.*1448G>C (n.*1448G>C) | |
| 10 | g.49655177G= | CA1908834669 | CHAT | c.1717G= (p.Ala573=) c.*554G= (n.*554G=) n.354G= c.580G= (p.Ala194=) c.1363G= (p.Ala455=) c.1471G= (p.Ala491=) c.*1448G= (n.*1448G=) | |
| 10 | g.49655177G>T | CA376747724 | CHAT | c.1717G>T (p.Ala573Ser) c.*554G>T (n.*554G>T) n.354G>T c.580G>T (p.Ala194Ser) c.1363G>T (p.Ala455Ser) c.1471G>T (p.Ala491Ser) c.*1448G>T (n.*1448G>T) | |
| 10 | g.49655178C>A | CA376747732 | CHAT | c.1718C>A (p.Ala573Asp) c.*555C>A (n.*555C>A) n.355C>A c.581C>A (p.Ala194Asp) c.1364C>A (p.Ala455Asp) c.1472C>A (p.Ala491Asp) c.*1449C>A (n.*1449C>A) | |
| 10 | g.49655178C= | CA1908834670 | CHAT | c.1718C= (p.Ala573=) c.*555C= (n.*555C=) n.355C= c.581C= (p.Ala194=) c.1364C= (p.Ala455=) c.1472C= (p.Ala491=) c.*1449C= (n.*1449C=) | |
| 10 | g.49655178C>G | CA376747729 | CHAT | c.1718C>G (p.Ala573Gly) c.*555C>G (n.*555C>G) n.355C>G c.581C>G (p.Ala194Gly) c.1364C>G (p.Ala455Gly) c.1472C>G (p.Ala491Gly) c.*1449C>G (n.*1449C>G) | |
| 10 | g.49655178C>T | CA376747726 | CHAT | c.1718C>T (p.Ala573Val) c.*555C>T (n.*555C>T) n.355C>T c.581C>T (p.Ala194Val) c.1364C>T (p.Ala455Val) c.1472C>T (p.Ala491Val) c.*1449C>T (n.*1449C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49655179C>A | CA469605699 | CHAT | c.1719C>A (p.Ala573=) c.*556C>A (n.*556C>A) n.356C>A c.582C>A (p.Ala194=) c.1365C>A (p.Ala455=) c.1473C>A (p.Ala491=) c.*1450C>A (n.*1450C>A) | |
| 10 | g.49655179C>G | CA469605698 | CHAT | c.1719C>G (p.Ala573=) c.*556C>G (n.*556C>G) n.356C>G c.582C>G (p.Ala194=) c.1365C>G (p.Ala455=) c.1473C>G (p.Ala491=) c.*1450C>G (n.*1450C>G) | |
| 10 | g.49655179C>T | CA469605700 | CHAT | c.1719C>T (p.Ala573=) c.*556C>T (n.*556C>T) n.356C>T c.582C>T (p.Ala194=) c.1365C>T (p.Ala455=) c.1473C>T (p.Ala491=) c.*1450C>T (n.*1450C>T) | |
| 10 | g.49655180A>C | CA376747741 | CHAT | c.1720A>C (p.Thr574Pro) c.*557A>C (n.*557A>C) n.357A>C c.583A>C (p.Thr195Pro) c.1366A>C (p.Thr456Pro) c.1474A>C (p.Thr492Pro) c.*1451A>C (n.*1451A>C) | |
| 10 | g.49655180A>G | CA376747735 | CHAT | c.1720A>G (p.Thr574Ala) c.*557A>G (n.*557A>G) n.357A>G c.583A>G (p.Thr195Ala) c.1366A>G (p.Thr456Ala) c.1474A>G (p.Thr492Ala) c.*1451A>G (n.*1451A>G) | gnomAD v4 |
| 10 | g.49655180A>T | CA376747739 | CHAT | c.1720A>T (p.Thr574Ser) c.*557A>T (n.*557A>T) n.357A>T c.583A>T (p.Thr195Ser) c.1366A>T (p.Thr456Ser) c.1474A>T (p.Thr492Ser) c.*1451A>T (n.*1451A>T) | |
| 10 | g.49655181C>A | CA376747744 | CHAT | c.1721C>A (p.Thr574Asn) c.*558C>A (n.*558C>A) n.358C>A c.584C>A (p.Thr195Asn) c.1367C>A (p.Thr456Asn) c.1475C>A (p.Thr492Asn) c.*1452C>A (n.*1452C>A) | |
| 10 | g.49655181C= | CA1908834671 | CHAT | c.1721C= (p.Thr574=) c.*558C= (n.*558C=) n.358C= c.584C= (p.Thr195=) c.1367C= (p.Thr456=) c.1475C= (p.Thr492=) c.*1452C= (n.*1452C=) | |
| 10 | g.49655181C>G | CA376747745 | CHAT | c.1721C>G (p.Thr574Ser) c.*558C>G (n.*558C>G) n.358C>G c.584C>G (p.Thr195Ser) c.1367C>G (p.Thr456Ser) c.1475C>G (p.Thr492Ser) c.*1452C>G (n.*1452C>G) | |
| 10 | g.49655181C>T | CA376747746 | CHAT | c.1721C>T (p.Thr574Ile) c.*558C>T (n.*558C>T) n.358C>T c.584C>T (p.Thr195Ile) c.1367C>T (p.Thr456Ile) c.1475C>T (p.Thr492Ile) c.*1452C>T (n.*1452C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.49655182T>A | CA469605703 | CHAT | c.1722T>A (p.Thr574=) c.*559T>A (n.*559T>A) n.359T>A c.585T>A (p.Thr195=) c.1368T>A (p.Thr456=) c.1476T>A (p.Thr492=) c.*1453T>A (n.*1453T>A) | |
| 10 | g.49655182T>C | CA469605702 | CHAT | c.1722T>C (p.Thr574=) c.*559T>C (n.*559T>C) n.359T>C c.585T>C (p.Thr195=) c.1368T>C (p.Thr456=) c.1476T>C (p.Thr492=) c.*1453T>C (n.*1453T>C) | |
| 10 | g.49655182T>G | CA469605704 | CHAT | c.1722T>G (p.Thr574=) c.*559T>G (n.*559T>G) n.359T>G c.585T>G (p.Thr195=) c.1368T>G (p.Thr456=) c.1476T>G (p.Thr492=) c.*1453T>G (n.*1453T>G) | |
| 10 | g.49655183C>A | CA376747750 | CHAT | c.1723C>A (p.Pro575Thr) c.*560C>A (n.*560C>A) n.360C>A c.586C>A (p.Pro196Thr) c.1369C>A (p.Pro457Thr) c.1477C>A (p.Pro493Thr) c.*1454C>A (n.*1454C>A) | |
| 10 | g.49655183C>G | CA376747748 | CHAT | c.1723C>G (p.Pro575Ala) c.*560C>G (n.*560C>G) n.360C>G c.586C>G (p.Pro196Ala) c.1369C>G (p.Pro457Ala) c.1477C>G (p.Pro493Ala) c.*1454C>G (n.*1454C>G) | |
| 10 | g.49655183C>T | CA376747747 | CHAT | c.1723C>T (p.Pro575Ser) c.*560C>T (n.*560C>T) n.360C>T c.586C>T (p.Pro196Ser) c.1369C>T (p.Pro457Ser) c.1477C>T (p.Pro493Ser) c.*1454C>T (n.*1454C>T) | COSMIC COSMIC |
| 10 | g.49655184C>A | CA376747753 | CHAT | c.1724C>A (p.Pro575Gln) c.*561C>A (n.*561C>A) n.361C>A c.587C>A (p.Pro196Gln) c.1370C>A (p.Pro457Gln) c.1478C>A (p.Pro493Gln) c.*1455C>A (n.*1455C>A) | |
| 10 | g.49655184C= | CA1908834672 | CHAT | c.1724C= (p.Pro575=) c.*561C= (n.*561C=) n.361C= c.587C= (p.Pro196=) c.1370C= (p.Pro457=) c.1478C= (p.Pro493=) c.*1455C= (n.*1455C=) | |
| 10 | g.49655184C>G | CA376747756 | CHAT | c.1724C>G (p.Pro575Arg) c.*561C>G (n.*561C>G) n.361C>G c.587C>G (p.Pro196Arg) c.1370C>G (p.Pro457Arg) c.1478C>G (p.Pro493Arg) c.*1455C>G (n.*1455C>G) | |
| 10 | g.49655184C>T | CA376747766 | CHAT | c.1724C>T (p.Pro575Leu) c.*561C>T (n.*561C>T) n.361C>T c.587C>T (p.Pro196Leu) c.1370C>T (p.Pro457Leu) c.1478C>T (p.Pro493Leu) c.*1455C>T (n.*1455C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655185A>C | CA469605706 | CHAT | c.1725A>C (p.Pro575=) c.*562A>C (n.*562A>C) n.362A>C c.588A>C (p.Pro196=) c.1371A>C (p.Pro457=) c.1479A>C (p.Pro493=) c.*1456A>C (n.*1456A>C) | gnomAD v4 |
| 10 | g.49655185A>G | CA469605707 | CHAT | c.1725A>G (p.Pro575=) c.*562A>G (n.*562A>G) n.362A>G c.588A>G (p.Pro196=) c.1371A>G (p.Pro457=) c.1479A>G (p.Pro493=) c.*1456A>G (n.*1456A>G) | |
| 10 | g.49655185A>T | CA469605705 | CHAT | c.1725A>T (p.Pro575=) c.*562A>T (n.*562A>T) n.362A>T c.588A>T (p.Pro196=) c.1371A>T (p.Pro457=) c.1479A>T (p.Pro493=) c.*1456A>T (n.*1456A>T) | |
| 10 | g.49655186G>A | CA376747770 | CHAT | c.1726G>A (p.Glu576Lys) c.*563G>A (n.*563G>A) n.363G>A c.589G>A (p.Glu197Lys) c.1372G>A (p.Glu458Lys) c.1480G>A (p.Glu494Lys) c.*1457G>A (n.*1457G>A) | |
| 10 | g.49655186G>C | CA376747773 | CHAT | c.1726G>C (p.Glu576Gln) c.*563G>C (n.*563G>C) n.363G>C c.589G>C (p.Glu197Gln) c.1372G>C (p.Glu458Gln) c.1480G>C (p.Glu494Gln) c.*1457G>C (n.*1457G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655186G= | CA1908834673 | CHAT | c.1726G= (p.Glu576=) c.*563G= (n.*563G=) n.363G= c.589G= (p.Glu197=) c.1372G= (p.Glu458=) c.1480G= (p.Glu494=) c.*1457G= (n.*1457G=) | |
| 10 | g.49655186G>T | CA376747776 | CHAT | c.1726G>T (p.Glu576Ter) c.*563G>T (n.*563G>T) n.363G>T c.589G>T (p.Glu197Ter) c.1372G>T (p.Glu458Ter) c.1480G>T (p.Glu494Ter) c.*1457G>T (n.*1457G>T) | |
| 10 | g.49655187A>C | CA376747783 | CHAT | c.1727A>C (p.Glu576Ala) c.*564A>C (n.*564A>C) n.364A>C c.590A>C (p.Glu197Ala) c.1373A>C (p.Glu458Ala) c.1481A>C (p.Glu494Ala) c.*1458A>C (n.*1458A>C) | |
| 10 | g.49655187A>G | CA376747789 | CHAT | c.1727A>G (p.Glu576Gly) c.*564A>G (n.*564A>G) n.364A>G c.590A>G (p.Glu197Gly) c.1373A>G (p.Glu458Gly) c.1481A>G (p.Glu494Gly) c.*1458A>G (n.*1458A>G) | |
| 10 | g.49655187A>T | CA376747785 | CHAT | c.1727A>T (p.Glu576Val) c.*564A>T (n.*564A>T) n.364A>T c.590A>T (p.Glu197Val) c.1373A>T (p.Glu458Val) c.1481A>T (p.Glu494Val) c.*1458A>T (n.*1458A>T) | ClinVar |
| 10 | g.49655188G>A | CA469605708 | CHAT | c.1728G>A (p.Glu576=) c.*565G>A (n.*565G>A) n.365G>A c.591G>A (p.Glu197=) c.1374G>A (p.Glu458=) c.1482G>A (p.Glu494=) c.*1459G>A (n.*1459G>A) | ClinVar dbSNP |
| 10 | g.49655188G>C | CA376747791 | CHAT | c.1728G>C (p.Glu576Asp) c.*565G>C (n.*565G>C) n.365G>C c.591G>C (p.Glu197Asp) c.1374G>C (p.Glu458Asp) c.1482G>C (p.Glu494Asp) c.*1459G>C (n.*1459G>C) | |
| 10 | g.49655188G>T | CA376747792 | CHAT | c.1728G>T (p.Glu576Asp) c.*565G>T (n.*565G>T) n.365G>T c.591G>T (p.Glu197Asp) c.1374G>T (p.Glu458Asp) c.1482G>T (p.Glu494Asp) c.*1459G>T (n.*1459G>T) | |
| 10 | g.49655189G>A | CA376747794 | CHAT | c.1729G>A (p.Ala577Thr) c.*566G>A (n.*566G>A) n.366G>A c.592G>A (p.Ala198Thr) c.1375G>A (p.Ala459Thr) c.1483G>A (p.Ala495Thr) c.*1460G>A (n.*1460G>A) | |
| 10 | g.49655189G>C | CA376747795 | CHAT | c.1729G>C (p.Ala577Pro) c.*566G>C (n.*566G>C) n.366G>C c.592G>C (p.Ala198Pro) c.1375G>C (p.Ala459Pro) c.1483G>C (p.Ala495Pro) c.*1460G>C (n.*1460G>C) | |
| 10 | g.49655189G>T | CA376747799 | CHAT | c.1729G>T (p.Ala577Ser) c.*566G>T (n.*566G>T) n.366G>T c.592G>T (p.Ala198Ser) c.1375G>T (p.Ala459Ser) c.1483G>T (p.Ala495Ser) c.*1460G>T (n.*1460G>T) | dbSNP |
| 10 | g.49655190C>A | CA376747803 | CHAT | c.1730C>A (p.Ala577Glu) c.*567C>A (n.*567C>A) n.367C>A c.593C>A (p.Ala198Glu) c.1376C>A (p.Ala459Glu) c.1484C>A (p.Ala495Glu) c.*1461C>A (n.*1461C>A) | |
| 10 | g.49655190C>G | CA376747805 | CHAT | c.1730C>G (p.Ala577Gly) c.*567C>G (n.*567C>G) n.367C>G c.593C>G (p.Ala198Gly) c.1376C>G (p.Ala459Gly) c.1484C>G (p.Ala495Gly) c.*1461C>G (n.*1461C>G) | |
| 10 | g.49655190C>T | CA376747809 | CHAT | c.1730C>T (p.Ala577Val) c.*567C>T (n.*567C>T) n.367C>T c.593C>T (p.Ala198Val) c.1376C>T (p.Ala459Val) c.1484C>T (p.Ala495Val) c.*1461C>T (n.*1461C>T) | |
| 10 | g.49655191A>C | CA469605709 | CHAT | c.1731A>C (p.Ala577=) c.*568A>C (n.*568A>C) n.368A>C c.594A>C (p.Ala198=) c.1377A>C (p.Ala459=) c.1485A>C (p.Ala495=) c.*1462A>C (n.*1462A>C) | |
| 10 | g.49655191A>G | CA469605710 | CHAT | c.1731A>G (p.Ala577=) c.*568A>G (n.*568A>G) n.368A>G c.594A>G (p.Ala198=) c.1377A>G (p.Ala459=) c.1485A>G (p.Ala495=) c.*1462A>G (n.*1462A>G) | ClinVar |
| 10 | g.49655191A>T | CA469605711 | CHAT | c.1731A>T (p.Ala577=) c.*568A>T (n.*568A>T) n.368A>T c.594A>T (p.Ala198=) c.1377A>T (p.Ala459=) c.1485A>T (p.Ala495=) c.*1462A>T (n.*1462A>T) | |
| 10 | g.49655192C>A | CA376747812 | CHAT | c.1732C>A (p.Leu578Met) c.*569C>A (n.*569C>A) n.369C>A c.595C>A (p.Leu199Met) c.1378C>A (p.Leu460Met) c.1486C>A (p.Leu496Met) c.*1463C>A (n.*1463C>A) | |
| 10 | g.49655192C= | CA1908834674 | CHAT | c.1732C= (p.Leu578=) c.*569C= (n.*569C=) n.369C= c.595C= (p.Leu199=) c.1378C= (p.Leu460=) c.1486C= (p.Leu496=) c.*1463C= (n.*1463C=) | |
| 10 | g.49655192C>G | CA376747815 | CHAT | c.1732C>G (p.Leu578Val) c.*569C>G (n.*569C>G) n.369C>G c.595C>G (p.Leu199Val) c.1378C>G (p.Leu460Val) c.1486C>G (p.Leu496Val) c.*1463C>G (n.*1463C>G) | |
| 10 | g.49655192C>T | CA5497602 | CHAT | c.1732C>T (p.Leu578=) c.*569C>T (n.*569C>T) n.369C>T c.595C>T (p.Leu199=) c.1378C>T (p.Leu460=) c.1486C>T (p.Leu496=) c.*1463C>T (n.*1463C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655193T>A | CA376747821 | CHAT | c.1733T>A (p.Leu578Gln) c.*570T>A (n.*570T>A) n.370T>A c.596T>A (p.Leu199Gln) c.1379T>A (p.Leu460Gln) c.1487T>A (p.Leu496Gln) c.*1464T>A (n.*1464T>A) | |
| 10 | g.49655193T>C | CA376747823 | CHAT | c.1733T>C (p.Leu578Pro) c.*570T>C (n.*570T>C) n.370T>C c.596T>C (p.Leu199Pro) c.1379T>C (p.Leu460Pro) c.1487T>C (p.Leu496Pro) c.*1464T>C (n.*1464T>C) | |
| 10 | g.49655193T>G | CA376747820 | CHAT | c.1733T>G (p.Leu578Arg) c.*570T>G (n.*570T>G) n.370T>G c.596T>G (p.Leu199Arg) c.1379T>G (p.Leu460Arg) c.1487T>G (p.Leu496Arg) c.*1464T>G (n.*1464T>G) | |
| 10 | g.49655194G>A | CA469605713 | CHAT | c.1734G>A (p.Leu578=) c.*571G>A (n.*571G>A) n.371G>A c.597G>A (p.Leu199=) c.1380G>A (p.Leu460=) c.1488G>A (p.Leu496=) c.*1465G>A (n.*1465G>A) | |
| 10 | g.49655194G>C | CA469605712 | CHAT | c.1734G>C (p.Leu578=) c.*571G>C (n.*571G>C) n.371G>C c.597G>C (p.Leu199=) c.1380G>C (p.Leu460=) c.1488G>C (p.Leu496=) c.*1465G>C (n.*1465G>C) | |
| 10 | g.49655194G= | CA1908834675 | CHAT | c.1734G= (p.Leu578=) c.*571G= (n.*571G=) n.371G= c.597G= (p.Leu199=) c.1380G= (p.Leu460=) c.1488G= (p.Leu496=) c.*1465G= (n.*1465G=) | |
| 10 | g.49655194G>T | CA469605714 | CHAT | c.1734G>T (p.Leu578=) c.*571G>T (n.*571G>T) n.371G>T c.597G>T (p.Leu199=) c.1380G>T (p.Leu460=) c.1488G>T (p.Leu496=) c.*1465G>T (n.*1465G>T) | dbSNP |
| 10 | g.49655195G>A | CA5497603 | CHAT | c.1735G>A (p.Ala579Thr) c.*572G>A (n.*572G>A) n.372G>A c.598G>A (p.Ala200Thr) c.1381G>A (p.Ala461Thr) c.1489G>A (p.Ala497Thr) c.*1466G>A (n.*1466G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655195G>C | CA376747832 | CHAT | c.1735G>C (p.Ala579Pro) c.*572G>C (n.*572G>C) n.372G>C c.598G>C (p.Ala200Pro) c.1381G>C (p.Ala461Pro) c.1489G>C (p.Ala497Pro) c.*1466G>C (n.*1466G>C) | |
| 10 | g.49655195G= | CA1908834676 | CHAT | c.1735G= (p.Ala579=) c.*572G= (n.*572G=) n.372G= c.598G= (p.Ala200=) c.1381G= (p.Ala461=) c.1489G= (p.Ala497=) c.*1466G= (n.*1466G=) | |
| 10 | g.49655195G>T | CA376747828 | CHAT | c.1735G>T (p.Ala579Ser) c.*572G>T (n.*572G>T) n.372G>T c.598G>T (p.Ala200Ser) c.1381G>T (p.Ala461Ser) c.1489G>T (p.Ala497Ser) c.*1466G>T (n.*1466G>T) | |
| 10 | g.49655196C>A | CA376747838 | CHAT | c.1736C>A (p.Ala579Asp) c.*573C>A (n.*573C>A) n.373C>A c.599C>A (p.Ala200Asp) c.1382C>A (p.Ala461Asp) c.1490C>A (p.Ala497Asp) c.*1467C>A (n.*1467C>A) | |
| 10 | g.49655196C>G | CA376747844 | CHAT | c.1736C>G (p.Ala579Gly) c.*573C>G (n.*573C>G) n.373C>G c.599C>G (p.Ala200Gly) c.1382C>G (p.Ala461Gly) c.1490C>G (p.Ala497Gly) c.*1467C>G (n.*1467C>G) | |
| 10 | g.49655196C>T | CA376747847 | CHAT | c.1736C>T (p.Ala579Val) c.*573C>T (n.*573C>T) n.373C>T c.599C>T (p.Ala200Val) c.1382C>T (p.Ala461Val) c.1490C>T (p.Ala497Val) c.*1467C>T (n.*1467C>T) | gnomAD v4 |
| 10 | g.49655197T>A | CA469605717 | CHAT | c.1737T>A (p.Ala579=) c.*574T>A (n.*574T>A) n.374T>A c.600T>A (p.Ala200=) c.1383T>A (p.Ala461=) c.1491T>A (p.Ala497=) c.*1468T>A (n.*1468T>A) | |
| 10 | g.49655197T>C | CA469605719 | CHAT | c.1737T>C (p.Ala579=) c.*574T>C (n.*574T>C) n.374T>C c.600T>C (p.Ala200=) c.1383T>C (p.Ala461=) c.1491T>C (p.Ala497=) c.*1468T>C (n.*1468T>C) | |
| 10 | g.49655197T>G | CA469605718 | CHAT | c.1737T>G (p.Ala579=) c.*574T>G (n.*574T>G) n.374T>G c.600T>G (p.Ala200=) c.1383T>G (p.Ala461=) c.1491T>G (p.Ala497=) c.*1468T>G (n.*1468T>G) | |
| 10 | g.49655198T>A | CA376747851 | CHAT | c.1738T>A (p.Phe580Ile) c.*575T>A (n.*575T>A) n.375T>A c.601T>A (p.Phe201Ile) c.1384T>A (p.Phe462Ile) c.1492T>A (p.Phe498Ile) c.*1469T>A (n.*1469T>A) | |
| 10 | g.49655198T>C | CA376747856 | CHAT | c.1738T>C (p.Phe580Leu) c.*575T>C (n.*575T>C) n.375T>C c.601T>C (p.Phe201Leu) c.1384T>C (p.Phe462Leu) c.1492T>C (p.Phe498Leu) c.*1469T>C (n.*1469T>C) | |
| 10 | g.49655198T>G | CA376747867 | CHAT | c.1738T>G (p.Phe580Val) c.*575T>G (n.*575T>G) n.375T>G c.601T>G (p.Phe201Val) c.1384T>G (p.Phe462Val) c.1492T>G (p.Phe498Val) c.*1469T>G (n.*1469T>G) | |
| 10 | g.49655199T>A | CA376747872 | CHAT | c.1739T>A (p.Phe580Tyr) c.*576T>A (n.*576T>A) n.376T>A c.602T>A (p.Phe201Tyr) c.1385T>A (p.Phe462Tyr) c.1493T>A (p.Phe498Tyr) c.*1470T>A (n.*1470T>A) | |
| 10 | g.49655199T>C | CA376747874 | CHAT | c.1739T>C (p.Phe580Ser) c.*576T>C (n.*576T>C) n.376T>C c.602T>C (p.Phe201Ser) c.1385T>C (p.Phe462Ser) c.1493T>C (p.Phe498Ser) c.*1470T>C (n.*1470T>C) | |
| 10 | g.49655199T>G | CA376747879 | CHAT | c.1739T>G (p.Phe580Cys) c.*576T>G (n.*576T>G) n.376T>G c.602T>G (p.Phe201Cys) c.1385T>G (p.Phe462Cys) c.1493T>G (p.Phe498Cys) c.*1470T>G (n.*1470T>G) | |
| 10 | g.49655200T>A | CA376747883 | CHAT | c.1740T>A (p.Phe580Leu) c.*577T>A (n.*577T>A) n.377T>A c.603T>A (p.Phe201Leu) c.1386T>A (p.Phe462Leu) c.1494T>A (p.Phe498Leu) c.*1471T>A (n.*1471T>A) | |
| 10 | g.49655200T>C | CA469605720 | CHAT | c.1740T>C (p.Phe580=) c.*577T>C (n.*577T>C) n.377T>C c.603T>C (p.Phe201=) c.1386T>C (p.Phe462=) c.1494T>C (p.Phe498=) c.*1471T>C (n.*1471T>C) | dbSNP |
| 10 | g.49655200T>G | CA376747887 | CHAT | c.1740T>G (p.Phe580Leu) c.*577T>G (n.*577T>G) n.377T>G c.603T>G (p.Phe201Leu) c.1386T>G (p.Phe462Leu) c.1494T>G (p.Phe498Leu) c.*1471T>G (n.*1471T>G) | |
| 10 | g.49655201G>A | CA376747898 | CHAT | c.1741G>A (p.Val581Met) c.*578G>A (n.*578G>A) n.378G>A c.604G>A (p.Val202Met) c.1387G>A (p.Val463Met) c.1495G>A (p.Val499Met) c.*1472G>A (n.*1472G>A) | |
| 10 | g.49655201G>C | CA376747895 | CHAT | c.1741G>C (p.Val581Leu) c.*578G>C (n.*578G>C) n.378G>C c.604G>C (p.Val202Leu) c.1387G>C (p.Val463Leu) c.1495G>C (p.Val499Leu) c.*1472G>C (n.*1472G>C) | |
| 10 | g.49655201G>T | CA376747892 | CHAT | c.1741G>T (p.Val581Leu) c.*578G>T (n.*578G>T) n.378G>T c.604G>T (p.Val202Leu) c.1387G>T (p.Val463Leu) c.1495G>T (p.Val499Leu) c.*1472G>T (n.*1472G>T) | |
| 10 | g.49655202T>A | CA376747920 | CHAT | c.1742T>A (p.Val581Glu) c.*579T>A (n.*579T>A) n.379T>A c.605T>A (p.Val202Glu) c.1388T>A (p.Val463Glu) c.1496T>A (p.Val499Glu) c.*1473T>A (n.*1473T>A) | |
| 10 | g.49655202T>C | CA376747933 | CHAT | c.1742T>C (p.Val581Ala) c.*579T>C (n.*579T>C) n.379T>C c.605T>C (p.Val202Ala) c.1388T>C (p.Val463Ala) c.1496T>C (p.Val499Ala) c.*1473T>C (n.*1473T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655202T>G | CA376747938 | CHAT | c.1742T>G (p.Val581Gly) c.*579T>G (n.*579T>G) n.379T>G c.605T>G (p.Val202Gly) c.1388T>G (p.Val463Gly) c.1496T>G (p.Val499Gly) c.*1473T>G (n.*1473T>G) | |
| 10 | g.49655202T= | CA1908834677 | CHAT | c.1742T= (p.Val581=) c.*579T= (n.*579T=) n.379T= c.605T= (p.Val202=) c.1388T= (p.Val463=) c.1496T= (p.Val499=) c.*1473T= (n.*1473T=) | |
| 10 | g.49655203G>A | CA469605722 | CHAT | c.1743G>A (p.Val581=) c.*580G>A (n.*580G>A) n.380G>A c.606G>A (p.Val202=) c.1389G>A (p.Val463=) c.1497G>A (p.Val499=) c.*1474G>A (n.*1474G>A) | gnomAD v4 |
| 10 | g.49655203G>C | CA469605724 | CHAT | c.1743G>C (p.Val581=) c.*580G>C (n.*580G>C) n.380G>C c.606G>C (p.Val202=) c.1389G>C (p.Val463=) c.1497G>C (p.Val499=) c.*1474G>C (n.*1474G>C) | |
| 10 | g.49655203G>T | CA469605723 | CHAT | c.1743G>T (p.Val581=) c.*580G>T (n.*580G>T) n.380G>T c.606G>T (p.Val202=) c.1389G>T (p.Val463=) c.1497G>T (p.Val499=) c.*1474G>T (n.*1474G>T) | |
| 10 | g.49655204A>C | CA469605725 | CHAT | c.1744A>C (p.Arg582=) c.*581A>C (n.*581A>C) n.381A>C c.607A>C (p.Arg203=) c.1390A>C (p.Arg464=) c.1498A>C (p.Arg500=) c.*1475A>C (n.*1475A>C) | |
| 10 | g.49655204A>G | CA376747941 | CHAT | c.1744A>G (p.Arg582Gly) c.*581A>G (n.*581A>G) n.381A>G c.607A>G (p.Arg203Gly) c.1390A>G (p.Arg464Gly) c.1498A>G (p.Arg500Gly) c.*1475A>G (n.*1475A>G) | gnomAD v4 |
| 10 | g.49655204A>T | CA376747952 | CHAT | c.1744A>T (p.Arg582Ter) c.*581A>T (n.*581A>T) n.381A>T c.607A>T (p.Arg203Ter) c.1390A>T (p.Arg464Ter) c.1498A>T (p.Arg500Ter) c.*1475A>T (n.*1475A>T) | |
| 10 | g.49655205G>A | CA376747956 | CHAT | c.1745G>A (p.Arg582Lys) c.*582G>A (n.*582G>A) n.382G>A c.608G>A (p.Arg203Lys) c.1391G>A (p.Arg464Lys) c.1499G>A (p.Arg500Lys) c.*1476G>A (n.*1476G>A) | dbSNP gnomAD v4 |
| 10 | g.49655205G>C | CA5497604 | CHAT | c.1745G>C (p.Arg582Thr) c.*582G>C (n.*582G>C) n.382G>C c.608G>C (p.Arg203Thr) c.1391G>C (p.Arg464Thr) c.1499G>C (p.Arg500Thr) c.*1476G>C (n.*1476G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49655205G= | CA1908834678 | CHAT | c.1745G= (p.Arg582=) c.*582G= (n.*582G=) n.382G= c.608G= (p.Arg203=) c.1391G= (p.Arg464=) c.1499G= (p.Arg500=) c.*1476G= (n.*1476G=) | |
| 10 | g.49655205G>T | CA376747965 | CHAT | c.1745G>T (p.Arg582Ile) c.*582G>T (n.*582G>T) n.382G>T c.608G>T (p.Arg203Ile) c.1391G>T (p.Arg464Ile) c.1499G>T (p.Arg500Ile) c.*1476G>T (n.*1476G>T) | |
| 10 | g.49655206A= | CA1908834679 | CHAT | c.1746A= (p.Arg582=) c.*583A= (n.*583A=) n.383A= c.609A= (p.Arg203=) c.1392A= (p.Arg464=) c.1500A= (p.Arg500=) c.*1477A= (n.*1477A=) | |
| 10 | g.49655206A>C | CA376747971 | CHAT | c.1746A>C (p.Arg582Ser) c.*583A>C (n.*583A>C) n.383A>C c.609A>C (p.Arg203Ser) c.1392A>C (p.Arg464Ser) c.1500A>C (p.Arg500Ser) c.*1477A>C (n.*1477A>C) | |
| 10 | g.49655206A>G | CA5497605 | CHAT | c.1746A>G (p.Arg582=) c.*583A>G (n.*583A>G) n.383A>G c.609A>G (p.Arg203=) c.1392A>G (p.Arg464=) c.1500A>G (p.Arg500=) c.*1477A>G (n.*1477A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49655206A>T | CA376747972 | CHAT | c.1746A>T (p.Arg582Ser) c.*583A>T (n.*583A>T) n.383A>T c.609A>T (p.Arg203Ser) c.1392A>T (p.Arg464Ser) c.1500A>T (p.Arg500Ser) c.*1477A>T (n.*1477A>T) | gnomAD v4 |
| 10 | g.49655207G>A | CA376747981 | CHAT | c.1747G>A (p.Ala583Thr) c.*584G>A (n.*584G>A) n.384G>A c.610G>A (p.Ala204Thr) c.1393G>A (p.Ala465Thr) c.1501G>A (p.Ala501Thr) c.*1478G>A (n.*1478G>A) | |
| 10 | g.49655207G>C | CA376747979 | CHAT | c.1747G>C (p.Ala583Pro) c.*584G>C (n.*584G>C) n.384G>C c.610G>C (p.Ala204Pro) c.1393G>C (p.Ala465Pro) c.1501G>C (p.Ala501Pro) c.*1478G>C (n.*1478G>C) | |
| 10 | g.49655207G>T | CA376747976 | CHAT | c.1747G>T (p.Ala583Ser) c.*584G>T (n.*584G>T) n.384G>T c.610G>T (p.Ala204Ser) c.1393G>T (p.Ala465Ser) c.1501G>T (p.Ala501Ser) c.*1478G>T (n.*1478G>T) | |
| 10 | g.49655208C>A | CA376747984 | CHAT | c.1748C>A (p.Ala583Asp) c.*585C>A (n.*585C>A) n.385C>A c.611C>A (p.Ala204Asp) c.1394C>A (p.Ala465Asp) c.1502C>A (p.Ala501Asp) c.*1479C>A (n.*1479C>A) | |
| 10 | g.49655208C>G | CA376747992 | CHAT | c.1748C>G (p.Ala583Gly) c.*585C>G (n.*585C>G) n.385C>G c.611C>G (p.Ala204Gly) c.1394C>G (p.Ala465Gly) c.1502C>G (p.Ala501Gly) c.*1479C>G (n.*1479C>G) | |
| 10 | g.49655208C>T | CA376747995 | CHAT | c.1748C>T (p.Ala583Val) c.*585C>T (n.*585C>T) n.385C>T c.611C>T (p.Ala204Val) c.1394C>T (p.Ala465Val) c.1502C>T (p.Ala501Val) c.*1479C>T (n.*1479C>T) | |
| 10 | g.49655209C>A | CA469605731 | CHAT | c.1749C>A (p.Ala583=) c.*586C>A (n.*586C>A) n.386C>A c.612C>A (p.Ala204=) c.1395C>A (p.Ala465=) c.1503C>A (p.Ala501=) c.*1480C>A (n.*1480C>A) | |
| 10 | g.49655209C= | CA1908834680 | CHAT | c.1749C= (p.Ala583=) c.*586C= (n.*586C=) n.386C= c.612C= (p.Ala204=) c.1395C= (p.Ala465=) c.1503C= (p.Ala501=) c.*1480C= (n.*1480C=) | |
| 10 | g.49655209C>G | CA206641816 | CHAT | c.1749C>G (p.Ala583=) c.*586C>G (n.*586C>G) n.386C>G c.612C>G (p.Ala204=) c.1395C>G (p.Ala465=) c.1503C>G (p.Ala501=) c.*1480C>G (n.*1480C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655209C>T | CA5497606 | CHAT | c.1749C>T (p.Ala583=) c.*586C>T (n.*586C>T) n.386C>T c.612C>T (p.Ala204=) c.1395C>T (p.Ala465=) c.1503C>T (p.Ala501=) c.*1480C>T (n.*1480C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49655210G>A | CA5497607 | CHAT | c.1750G>A (p.Val584Met) c.*587G>A (n.*587G>A) n.387G>A c.613G>A (p.Val205Met) c.1396G>A (p.Val466Met) c.1504G>A (p.Val502Met) c.*1481G>A (n.*1481G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655210G>C | CA376748000 | CHAT | c.1750G>C (p.Val584Leu) c.*587G>C (n.*587G>C) n.387G>C c.613G>C (p.Val205Leu) c.1396G>C (p.Val466Leu) c.1504G>C (p.Val502Leu) c.*1481G>C (n.*1481G>C) | |
| 10 | g.49655210G= | CA1908834681 | CHAT | c.1750G= (p.Val584=) c.*587G= (n.*587G=) n.387G= c.613G= (p.Val205=) c.1396G= (p.Val466=) c.1504G= (p.Val502=) c.*1481G= (n.*1481G=) | |
| 10 | g.49655210G>T | CA376747998 | CHAT | c.1750G>T (p.Val584Leu) c.*587G>T (n.*587G>T) n.387G>T c.613G>T (p.Val205Leu) c.1396G>T (p.Val466Leu) c.1504G>T (p.Val502Leu) c.*1481G>T (n.*1481G>T) | |
| 10 | g.49655211T>A | CA376748021 | CHAT | c.1751T>A (p.Val584Glu) c.*588T>A (n.*588T>A) n.388T>A c.614T>A (p.Val205Glu) c.1397T>A (p.Val466Glu) c.1505T>A (p.Val502Glu) c.*1482T>A (n.*1482T>A) | |
| 10 | g.49655211T>C | CA376748027 | CHAT | c.1751T>C (p.Val584Ala) c.*588T>C (n.*588T>C) n.388T>C c.614T>C (p.Val205Ala) c.1397T>C (p.Val466Ala) c.1505T>C (p.Val502Ala) c.*1482T>C (n.*1482T>C) | |
| 10 | g.49655211T>G | CA376748031 | CHAT | c.1751T>G (p.Val584Gly) c.*588T>G (n.*588T>G) n.388T>G c.614T>G (p.Val205Gly) c.1397T>G (p.Val466Gly) c.1505T>G (p.Val502Gly) c.*1482T>G (n.*1482T>G) | |
| 10 | g.49655212G>A | CA469605733 | CHAT | c.1752G>A (p.Val584=) c.*589G>A (n.*589G>A) n.389G>A c.615G>A (p.Val205=) c.1398G>A (p.Val466=) c.1506G>A (p.Val502=) c.*1483G>A (n.*1483G>A) | |
| 10 | g.49655212G>C | CA469605732 | CHAT | c.1752G>C (p.Val584=) c.*589G>C (n.*589G>C) n.389G>C c.615G>C (p.Val205=) c.1398G>C (p.Val466=) c.1506G>C (p.Val502=) c.*1483G>C (n.*1483G>C) | |
| 10 | g.49655212G>T | CA469605734 | CHAT | c.1752G>T (p.Val584=) c.*589G>T (n.*589G>T) n.389G>T c.615G>T (p.Val205=) c.1398G>T (p.Val466=) c.1506G>T (p.Val502=) c.*1483G>T (n.*1483G>T) | gnomAD v4 |
| 10 | g.49655213A>C | CA376748038 | CHAT | c.1753A>C (p.Thr585Pro) c.*590A>C (n.*590A>C) n.390A>C c.616A>C (p.Thr206Pro) c.1399A>C (p.Thr467Pro) c.1507A>C (p.Thr503Pro) c.*1484A>C (n.*1484A>C) | |
| 10 | g.49655213A>G | CA376748041 | CHAT | c.1753A>G (p.Thr585Ala) c.*590A>G (n.*590A>G) n.390A>G c.616A>G (p.Thr206Ala) c.1399A>G (p.Thr467Ala) c.1507A>G (p.Thr503Ala) c.*1484A>G (n.*1484A>G) | |
| 10 | g.49655213A>T | CA376748043 | CHAT | c.1753A>T (p.Thr585Ser) c.*590A>T (n.*590A>T) n.390A>T c.616A>T (p.Thr206Ser) c.1399A>T (p.Thr467Ser) c.1507A>T (p.Thr503Ser) c.*1484A>T (n.*1484A>T) | |
| 10 | g.49655214C>A | CA376748052 | CHAT | c.1754C>A (p.Thr585Asn) c.*591C>A (n.*591C>A) n.391C>A c.617C>A (p.Thr206Asn) c.1400C>A (p.Thr467Asn) c.1508C>A (p.Thr503Asn) c.*1485C>A (n.*1485C>A) | |
| 10 | g.49655214C= | CA1908834682 | CHAT | c.1754C= (p.Thr585=) c.*591C= (n.*591C=) n.391C= c.617C= (p.Thr206=) c.1400C= (p.Thr467=) c.1508C= (p.Thr503=) c.*1485C= (n.*1485C=) | |
| 10 | g.49655214C>G | CA376748061 | CHAT | c.1754C>G (p.Thr585Ser) c.*591C>G (n.*591C>G) n.391C>G c.617C>G (p.Thr206Ser) c.1400C>G (p.Thr467Ser) c.1508C>G (p.Thr503Ser) c.*1485C>G (n.*1485C>G) | |
| 10 | g.49655214C>T | CA376748058 | CHAT | c.1754C>T (p.Thr585Ile) c.*591C>T (n.*591C>T) n.391C>T c.617C>T (p.Thr206Ile) c.1400C>T (p.Thr467Ile) c.1508C>T (p.Thr503Ile) c.*1485C>T (n.*1485C>T) | dbSNP gnomAD v4 |
| 10 | g.49655215T>A | CA469605738 | CHAT | c.1755T>A (p.Thr585=) c.*592T>A (n.*592T>A) n.392T>A c.618T>A (p.Thr206=) c.1401T>A (p.Thr467=) c.1509T>A (p.Thr503=) c.*1486T>A (n.*1486T>A) | |
| 10 | g.49655215T>C | CA469605736 | CHAT | c.1755T>C (p.Thr585=) c.*592T>C (n.*592T>C) n.392T>C c.618T>C (p.Thr206=) c.1401T>C (p.Thr467=) c.1509T>C (p.Thr503=) c.*1486T>C (n.*1486T>C) | |
| 10 | g.49655215T>G | CA469605737 | CHAT | c.1755T>G (p.Thr585=) c.*592T>G (n.*592T>G) n.392T>G c.618T>G (p.Thr206=) c.1401T>G (p.Thr467=) c.1509T>G (p.Thr503=) c.*1486T>G (n.*1486T>G) | |
| 10 | g.49655216G>A | CA376748065 | CHAT | c.1756G>A (p.Asp586Asn) c.*593G>A (n.*593G>A) n.393G>A c.619G>A (p.Asp207Asn) c.1402G>A (p.Asp468Asn) c.1510G>A (p.Asp504Asn) c.*1487G>A (n.*1487G>A) | |
| 10 | g.49655216G>C | CA376748069 | CHAT | c.1756G>C (p.Asp586His) c.*593G>C (n.*593G>C) n.393G>C c.619G>C (p.Asp207His) c.1402G>C (p.Asp468His) c.1510G>C (p.Asp504His) c.*1487G>C (n.*1487G>C) | |
| 10 | g.49655216G>T | CA376748071 | CHAT | c.1756G>T (p.Asp586Tyr) c.*593G>T (n.*593G>T) n.393G>T c.619G>T (p.Asp207Tyr) c.1402G>T (p.Asp468Tyr) c.1510G>T (p.Asp504Tyr) c.*1487G>T (n.*1487G>T) | |
| 10 | g.49655217A>C | CA376748075 | CHAT | c.1757A>C (p.Asp586Ala) c.*594A>C (n.*594A>C) n.394A>C c.620A>C (p.Asp207Ala) c.1403A>C (p.Asp468Ala) c.1511A>C (p.Asp504Ala) c.*1488A>C (n.*1488A>C) | |
| 10 | g.49655217A>G | CA376748077 | CHAT | c.1757A>G (p.Asp586Gly) c.*594A>G (n.*594A>G) n.394A>G c.620A>G (p.Asp207Gly) c.1403A>G (p.Asp468Gly) c.1511A>G (p.Asp504Gly) c.*1488A>G (n.*1488A>G) | |
| 10 | g.49655217A>T | CA376748081 | CHAT | c.1757A>T (p.Asp586Val) c.*594A>T (n.*594A>T) n.394A>T c.620A>T (p.Asp207Val) c.1403A>T (p.Asp468Val) c.1511A>T (p.Asp504Val) c.*1488A>T (n.*1488A>T) | |
| 10 | g.49655218C>A | CA376748082 | CHAT | c.1758C>A (p.Asp586Glu) c.*595C>A (n.*595C>A) n.395C>A c.621C>A (p.Asp207Glu) c.1404C>A (p.Asp468Glu) c.1512C>A (p.Asp504Glu) c.*1489C>A (n.*1489C>A) | |
| 10 | g.49655218C= | CA1908834683 | CHAT | c.1758C= (p.Asp586=) c.*595C= (n.*595C=) n.395C= c.621C= (p.Asp207=) c.1404C= (p.Asp468=) c.1512C= (p.Asp504=) c.*1489C= (n.*1489C=) | |
| 10 | g.49655218C>G | CA376748087 | CHAT | c.1758C>G (p.Asp586Glu) c.*595C>G (n.*595C>G) n.395C>G c.621C>G (p.Asp207Glu) c.1404C>G (p.Asp468Glu) c.1512C>G (p.Asp504Glu) c.*1489C>G (n.*1489C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655218C>T | CA469605739 | CHAT | c.1758C>T (p.Asp586=) c.*595C>T (n.*595C>T) n.395C>T c.621C>T (p.Asp207=) c.1404C>T (p.Asp468=) c.1512C>T (p.Asp504=) c.*1489C>T (n.*1489C>T) | |
| 10 | g.49655219C>A | CA376748091 | CHAT | c.1759C>A (p.His587Asn) c.*596C>A (n.*596C>A) n.396C>A c.622C>A (p.His208Asn) c.1405C>A (p.His469Asn) c.1513C>A (p.His505Asn) c.*1490C>A (n.*1490C>A) | |
| 10 | g.49655219C= | CA1908834684 | CHAT | c.1759C= (p.His587=) c.*596C= (n.*596C=) n.396C= c.622C= (p.His208=) c.1405C= (p.His469=) c.1513C= (p.His505=) c.*1490C= (n.*1490C=) | |
| 10 | g.49655219C>G | CA376748094 | CHAT | c.1759C>G (p.His587Asp) c.*596C>G (n.*596C>G) n.396C>G c.622C>G (p.His208Asp) c.1405C>G (p.His469Asp) c.1513C>G (p.His505Asp) c.*1490C>G (n.*1490C>G) | |
| 10 | g.49655219C>T | CA376748095 | CHAT | c.1759C>T (p.His587Tyr) c.*596C>T (n.*596C>T) n.396C>T c.622C>T (p.His208Tyr) c.1405C>T (p.His469Tyr) c.1513C>T (p.His505Tyr) c.*1490C>T (n.*1490C>T) | dbSNP |
| 10 | g.49655220A>C | CA376748103 | CHAT | c.1760A>C (p.His587Pro) c.*597A>C (n.*597A>C) n.397A>C c.623A>C (p.His208Pro) c.1406A>C (p.His469Pro) c.1514A>C (p.His505Pro) c.*1491A>C (n.*1491A>C) | |
| 10 | g.49655220A>G | CA376748107 | CHAT | c.1760A>G (p.His587Arg) c.*597A>G (n.*597A>G) n.397A>G c.623A>G (p.His208Arg) c.1406A>G (p.His469Arg) c.1514A>G (p.His505Arg) c.*1491A>G (n.*1491A>G) | |
| 10 | g.49655220A>T | CA376748098 | CHAT | c.1760A>T (p.His587Leu) c.*597A>T (n.*597A>T) n.397A>T c.623A>T (p.His208Leu) c.1406A>T (p.His469Leu) c.1514A>T (p.His505Leu) c.*1491A>T (n.*1491A>T) | |
| 10 | g.49655221C>A | CA376748123 | CHAT | c.1761C>A (p.His587Gln) c.*598C>A (n.*598C>A) n.398C>A c.624C>A (p.His208Gln) c.1407C>A (p.His469Gln) c.1515C>A (p.His505Gln) c.*1492C>A (n.*1492C>A) | |
| 10 | g.49655221C>G | CA376748111 | CHAT | c.1761C>G (p.His587Gln) c.*598C>G (n.*598C>G) n.398C>G c.624C>G (p.His208Gln) c.1407C>G (p.His469Gln) c.1515C>G (p.His505Gln) c.*1492C>G (n.*1492C>G) | |
| 10 | g.49655221C>T | CA469605740 | CHAT | c.1761C>T (p.His587=) c.*598C>T (n.*598C>T) n.398C>T c.624C>T (p.His208=) c.1407C>T (p.His469=) c.1515C>T (p.His505=) c.*1492C>T (n.*1492C>T) | gnomAD v4 |
| 10 | g.49655222A= | CA1908834685 | CHAT | c.1762A= (p.Lys588=) c.*599A= (n.*599A=) n.399A= c.625A= (p.Lys209=) c.1408A= (p.Lys470=) c.1516A= (p.Lys506=) c.*1493A= (n.*1493A=) | |
| 10 | g.49655222A>C | CA376748138 | CHAT | c.1762A>C (p.Lys588Gln) c.*599A>C (n.*599A>C) n.399A>C c.625A>C (p.Lys209Gln) c.1408A>C (p.Lys470Gln) c.1516A>C (p.Lys506Gln) c.*1493A>C (n.*1493A>C) | dbSNP |
| 10 | g.49655222A>G | CA376748137 | CHAT | c.1762A>G (p.Lys588Glu) c.*599A>G (n.*599A>G) n.399A>G c.625A>G (p.Lys209Glu) c.1408A>G (p.Lys470Glu) c.1516A>G (p.Lys506Glu) c.*1493A>G (n.*1493A>G) | |
| 10 | g.49655222A>T | CA376748139 | CHAT | c.1762A>T (p.Lys588Ter) c.*599A>T (n.*599A>T) n.399A>T c.625A>T (p.Lys209Ter) c.1408A>T (p.Lys470Ter) c.1516A>T (p.Lys506Ter) c.*1493A>T (n.*1493A>T) | |
| 10 | g.49655223del | CA2609118417 | CHAT | c.1763del (p.Lys588ArgfsTer13) c.*600del (n.*600del) n.400del c.626del (p.Lys209ArgfsTer13) c.1409del (p.Lys470ArgfsTer13) c.1517del (p.Lys506ArgfsTer13) c.*1494del (n.*1494del) | gnomAD v4 |
| 10 | g.49655223A= | CA1908834686 | CHAT | c.1763A= (p.Lys588=) c.*600A= (n.*600A=) n.400A= c.626A= (p.Lys209=) c.1409A= (p.Lys470=) c.1517A= (p.Lys506=) c.*1494A= (n.*1494A=) | |
| 10 | g.49655223A>C | CA376748141 | CHAT | c.1763A>C (p.Lys588Thr) c.*600A>C (n.*600A>C) n.400A>C c.626A>C (p.Lys209Thr) c.1409A>C (p.Lys470Thr) c.1517A>C (p.Lys506Thr) c.*1494A>C (n.*1494A>C) | |
| 10 | g.49655223A>G | CA376748150 | CHAT | c.1763A>G (p.Lys588Arg) c.*600A>G (n.*600A>G) n.400A>G c.626A>G (p.Lys209Arg) c.1409A>G (p.Lys470Arg) c.1517A>G (p.Lys506Arg) c.*1494A>G (n.*1494A>G) | dbSNP gnomAD v4 |
| 10 | g.49655223A>T | CA376748147 | CHAT | c.1763A>T (p.Lys588Met) c.*600A>T (n.*600A>T) n.400A>T c.626A>T (p.Lys209Met) c.1409A>T (p.Lys470Met) c.1517A>T (p.Lys506Met) c.*1494A>T (n.*1494A>T) | |
| 10 | g.49655234_49655286dup | CA2609118418 | CHAT | c.1774_1776+50dup c.*611_*613+50dup n.411_413+50dup c.637_639+50dup c.1420_1422+50dup c.1528_1530+50dup c.*1505_*1507+50dup | gnomAD v4 |
| 10 | g.49655224G>A | CA469605741 | CHAT | c.1764G>A (p.Lys588=) c.*601G>A (n.*601G>A) n.401G>A c.627G>A (p.Lys209=) c.1410G>A (p.Lys470=) c.1518G>A (p.Lys506=) c.*1495G>A (n.*1495G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655224G>C | CA376748153 | CHAT | c.1764G>C (p.Lys588Asn) c.*601G>C (n.*601G>C) n.401G>C c.627G>C (p.Lys209Asn) c.1410G>C (p.Lys470Asn) c.1518G>C (p.Lys506Asn) c.*1495G>C (n.*1495G>C) | |
| 10 | g.49655224G= | CA1908834687 | CHAT | c.1764G= (p.Lys588=) c.*601G= (n.*601G=) n.401G= c.627G= (p.Lys209=) c.1410G= (p.Lys470=) c.1518G= (p.Lys506=) c.*1495G= (n.*1495G=) | |
| 10 | g.49655224G>T | CA376748159 | CHAT | c.1764G>T (p.Lys588Asn) c.*601G>T (n.*601G>T) n.401G>T c.627G>T (p.Lys209Asn) c.1410G>T (p.Lys470Asn) c.1518G>T (p.Lys506Asn) c.*1495G>T (n.*1495G>T) | gnomAD v4 |
| 10 | g.49655225G>A | CA376748165 | CHAT | c.1765G>A (p.Ala589Thr) c.*602G>A (n.*602G>A) n.402G>A c.628G>A (p.Ala210Thr) c.1411G>A (p.Ala471Thr) c.1519G>A (p.Ala507Thr) c.*1496G>A (n.*1496G>A) | |
| 10 | g.49655225G>C | CA376748166 | CHAT | c.1765G>C (p.Ala589Pro) c.*602G>C (n.*602G>C) n.402G>C c.628G>C (p.Ala210Pro) c.1411G>C (p.Ala471Pro) c.1519G>C (p.Ala507Pro) c.*1496G>C (n.*1496G>C) | gnomAD v4 |
| 10 | g.49655225G>T | CA376748168 | CHAT | c.1765G>T (p.Ala589Ser) c.*602G>T (n.*602G>T) n.402G>T c.628G>T (p.Ala210Ser) c.1411G>T (p.Ala471Ser) c.1519G>T (p.Ala507Ser) c.*1496G>T (n.*1496G>T) | |
| 10 | g.49655226C>A | CA376748171 | CHAT | c.1766C>A (p.Ala589Asp) c.*603C>A (n.*603C>A) n.403C>A c.629C>A (p.Ala210Asp) c.1412C>A (p.Ala471Asp) c.1520C>A (p.Ala507Asp) c.*1497C>A (n.*1497C>A) | |
| 10 | g.49655226C>G | CA376748175 | CHAT | c.1766C>G (p.Ala589Gly) c.*603C>G (n.*603C>G) n.403C>G c.629C>G (p.Ala210Gly) c.1412C>G (p.Ala471Gly) c.1520C>G (p.Ala507Gly) c.*1497C>G (n.*1497C>G) | |
| 10 | g.49655226C>T | CA376748192 | CHAT | c.1766C>T (p.Ala589Val) c.*603C>T (n.*603C>T) n.403C>T c.629C>T (p.Ala210Val) c.1412C>T (p.Ala471Val) c.1520C>T (p.Ala507Val) c.*1497C>T (n.*1497C>T) | |
| 10 | g.49655227T>A | CA469605743 | CHAT | c.1767T>A (p.Ala589=) c.*604T>A (n.*604T>A) n.404T>A c.630T>A (p.Ala210=) c.1413T>A (p.Ala471=) c.1521T>A (p.Ala507=) c.*1498T>A (n.*1498T>A) | COSMIC COSMIC |
| 10 | g.49655227T>C | CA5497608 | CHAT | c.1767T>C (p.Ala589=) c.*604T>C (n.*604T>C) n.404T>C c.630T>C (p.Ala210=) c.1413T>C (p.Ala471=) c.1521T>C (p.Ala507=) c.*1498T>C (n.*1498T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49655227T>G | CA469605744 | CHAT | c.1767T>G (p.Ala589=) c.*604T>G (n.*604T>G) n.404T>G c.630T>G (p.Ala210=) c.1413T>G (p.Ala471=) c.1521T>G (p.Ala507=) c.*1498T>G (n.*1498T>G) | |
| 10 | g.49655227T= | CA1908834688 | CHAT | c.1767T= (p.Ala589=) c.*604T= (n.*604T=) n.404T= c.630T= (p.Ala210=) c.1413T= (p.Ala471=) c.1521T= (p.Ala507=) c.*1498T= (n.*1498T=) | |
| 10 | g.49655228G>A | CA376748195 | CHAT | c.1768G>A (p.Ala590Thr) c.*605G>A (n.*605G>A) n.405G>A c.631G>A (p.Ala211Thr) c.1414G>A (p.Ala472Thr) c.1522G>A (p.Ala508Thr) c.*1499G>A (n.*1499G>A) | gnomAD v4 |
| 10 | g.49655228G>C | CA376748197 | CHAT | c.1768G>C (p.Ala590Pro) c.*605G>C (n.*605G>C) n.405G>C c.631G>C (p.Ala211Pro) c.1414G>C (p.Ala472Pro) c.1522G>C (p.Ala508Pro) c.*1499G>C (n.*1499G>C) | |
| 10 | g.49655228G= | CA1908834689 | CHAT | c.1768G= (p.Ala590=) c.*605G= (n.*605G=) n.405G= c.631G= (p.Ala211=) c.1414G= (p.Ala472=) c.1522G= (p.Ala508=) c.*1499G= (n.*1499G=) | |
| 10 | g.49655228G>T | CA5497609 | CHAT | c.1768G>T (p.Ala590Ser) c.*605G>T (n.*605G>T) n.405G>T c.631G>T (p.Ala211Ser) c.1414G>T (p.Ala472Ser) c.1522G>T (p.Ala508Ser) c.*1499G>T (n.*1499G>T) | dbSNP ExAC gnomAD v4 |
| 10 | g.49655229C>A | CA376748207 | CHAT | c.1769C>A (p.Ala590Asp) c.*606C>A (n.*606C>A) n.406C>A c.632C>A (p.Ala211Asp) c.1415C>A (p.Ala472Asp) c.1523C>A (p.Ala508Asp) c.*1500C>A (n.*1500C>A) | |
| 10 | g.49655229C= | CA1908834690 | CHAT | c.1769C= (p.Ala590=) c.*606C= (n.*606C=) n.406C= c.632C= (p.Ala211=) c.1415C= (p.Ala472=) c.1523C= (p.Ala508=) c.*1500C= (n.*1500C=) | |
| 10 | g.49655229C>G | CA376748210 | CHAT | c.1769C>G (p.Ala590Gly) c.*606C>G (n.*606C>G) n.406C>G c.632C>G (p.Ala211Gly) c.1415C>G (p.Ala472Gly) c.1523C>G (p.Ala508Gly) c.*1500C>G (n.*1500C>G) | |
| 10 | g.49655229C>T | CA376748215 | CHAT | c.1769C>T (p.Ala590Val) c.*606C>T (n.*606C>T) n.406C>T c.632C>T (p.Ala211Val) c.1415C>T (p.Ala472Val) c.1523C>T (p.Ala508Val) c.*1500C>T (n.*1500C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655230T>A | CA469605746 | CHAT | c.1770T>A (p.Ala590=) c.*607T>A (n.*607T>A) n.407T>A c.633T>A (p.Ala211=) c.1416T>A (p.Ala472=) c.1524T>A (p.Ala508=) c.*1501T>A (n.*1501T>A) | |
| 10 | g.49655230T>C | CA469605745 | CHAT | c.1770T>C (p.Ala590=) c.*607T>C (n.*607T>C) n.407T>C c.633T>C (p.Ala211=) c.1416T>C (p.Ala472=) c.1524T>C (p.Ala508=) c.*1501T>C (n.*1501T>C) | |
| 10 | g.49655230T>G | CA469605747 | CHAT | c.1770T>G (p.Ala590=) c.*607T>G (n.*607T>G) n.407T>G c.633T>G (p.Ala211=) c.1416T>G (p.Ala472=) c.1524T>G (p.Ala508=) c.*1501T>G (n.*1501T>G) | |
| 10 | g.49655231G>A | CA239932 | CHAT | c.1771G>A (p.Val591Met) c.*608G>A (n.*608G>A) n.408G>A c.634G>A (p.Val212Met) c.1417G>A (p.Val473Met) c.1525G>A (p.Val509Met) c.*1502G>A (n.*1502G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655231G>C | CA376748234 | CHAT | c.1771G>C (p.Val591Leu) c.*608G>C (n.*608G>C) n.408G>C c.634G>C (p.Val212Leu) c.1417G>C (p.Val473Leu) c.1525G>C (p.Val509Leu) c.*1502G>C (n.*1502G>C) | |
| 10 | g.49655231G= | CA1908834691 | CHAT | c.1771G= (p.Val591=) c.*608G= (n.*608G=) n.408G= c.634G= (p.Val212=) c.1417G= (p.Val473=) c.1525G= (p.Val509=) c.*1502G= (n.*1502G=) | |
| 10 | g.49655231G>T | CA376748233 | CHAT | c.1771G>T (p.Val591Leu) c.*608G>T (n.*608G>T) n.408G>T c.634G>T (p.Val212Leu) c.1417G>T (p.Val473Leu) c.1525G>T (p.Val509Leu) c.*1502G>T (n.*1502G>T) | |
| 10 | g.49655232T>A | CA376748236 | CHAT | c.1772T>A (p.Val591Glu) c.*609T>A (n.*609T>A) n.409T>A c.635T>A (p.Val212Glu) c.1418T>A (p.Val473Glu) c.1526T>A (p.Val509Glu) c.*1503T>A (n.*1503T>A) | |
| 10 | g.49655232T>C | CA376748238 | CHAT | c.1772T>C (p.Val591Ala) c.*609T>C (n.*609T>C) n.409T>C c.635T>C (p.Val212Ala) c.1418T>C (p.Val473Ala) c.1526T>C (p.Val509Ala) c.*1503T>C (n.*1503T>C) | |
| 10 | g.49655232T>G | CA376748240 | CHAT | c.1772T>G (p.Val591Gly) c.*609T>G (n.*609T>G) n.409T>G c.635T>G (p.Val212Gly) c.1418T>G (p.Val473Gly) c.1526T>G (p.Val509Gly) c.*1503T>G (n.*1503T>G) | |
| 10 | g.49655233G>A | CA469605749 | CHAT | c.1773G>A (p.Val591=) c.*610G>A (n.*610G>A) n.410G>A c.636G>A (p.Val212=) c.1419G>A (p.Val473=) c.1527G>A (p.Val509=) c.*1504G>A (n.*1504G>A) | |
| 10 | g.49655233G>C | CA469605751 | CHAT | c.1773G>C (p.Val591=) c.*610G>C (n.*610G>C) n.410G>C c.636G>C (p.Val212=) c.1419G>C (p.Val473=) c.1527G>C (p.Val509=) c.*1504G>C (n.*1504G>C) | |
| 10 | g.49655233G>T | CA469605750 | CHAT | c.1773G>T (p.Val591=) c.*610G>T (n.*610G>T) n.410G>T c.636G>T (p.Val212=) c.1419G>T (p.Val473=) c.1527G>T (p.Val509=) c.*1504G>T (n.*1504G>T) | |
| 10 | g.49655234C>A | CA376748243 | CHAT | c.1774C>A (p.Pro592Thr) c.*611C>A (n.*611C>A) n.411C>A c.637C>A (p.Pro213Thr) c.1420C>A (p.Pro474Thr) c.1528C>A (p.Pro510Thr) c.*1505C>A (n.*1505C>A) | |
| 10 | g.49655234C= | CA1908834692 | CHAT | c.1774C= (p.Pro592=) c.*611C= (n.*611C=) n.411C= c.637C= (p.Pro213=) c.1420C= (p.Pro474=) c.1528C= (p.Pro510=) c.*1505C= (n.*1505C=) | |
| 10 | g.49655234C>G | CA376748249 | CHAT | c.1774C>G (p.Pro592Ala) c.*611C>G (n.*611C>G) n.411C>G c.637C>G (p.Pro213Ala) c.1420C>G (p.Pro474Ala) c.1528C>G (p.Pro510Ala) c.*1505C>G (n.*1505C>G) | |
| 10 | g.49655234C>T | CA376748256 | CHAT | c.1774C>T (p.Pro592Ser) c.*611C>T (n.*611C>T) n.411C>T c.637C>T (p.Pro213Ser) c.1420C>T (p.Pro474Ser) c.1528C>T (p.Pro510Ser) c.*1505C>T (n.*1505C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655235dup | CA2609118432 | CHAT | c.1775dup (p.Ala593SerfsTer3) c.*612dup (n.*612dup) n.412dup c.638dup (p.Ala214SerfsTer3) c.1421dup (p.Ala475SerfsTer3) c.1529dup (p.Ala511SerfsTer3) c.*1506dup (n.*1506dup) | gnomAD v4 |
| 10 | g.49655235C>A | CA376748257 | CHAT | c.1775C>A (p.Pro592Gln) c.*612C>A (n.*612C>A) n.412C>A c.638C>A (p.Pro213Gln) c.1421C>A (p.Pro474Gln) c.1529C>A (p.Pro510Gln) c.*1506C>A (n.*1506C>A) | |
| 10 | g.49655235C>G | CA376748277 | CHAT | c.1775C>G (p.Pro592Arg) c.*612C>G (n.*612C>G) n.412C>G c.638C>G (p.Pro213Arg) c.1421C>G (p.Pro474Arg) c.1529C>G (p.Pro510Arg) c.*1506C>G (n.*1506C>G) | gnomAD v4 |
| 10 | g.49655235C>T | CA376748279 | CHAT | c.1775C>T (p.Pro592Leu) c.*612C>T (n.*612C>T) n.412C>T c.638C>T (p.Pro213Leu) c.1421C>T (p.Pro474Leu) c.1529C>T (p.Pro510Leu) c.*1506C>T (n.*1506C>T) | |
| 10 | g.49655236A= | CA1908834693 | CHAT | c.1776A= (p.Pro592=) c.*613A= (n.*613A=) n.413A= c.639A= (p.Pro213=) c.1422A= (p.Pro474=) c.1530A= (p.Pro510=) c.*1507A= (n.*1507A=) | |
| 10 | g.49655236A>C | CA469605753 | CHAT | c.1776A>C (p.Pro592=) c.*613A>C (n.*613A>C) n.413A>C c.639A>C (p.Pro213=) c.1422A>C (p.Pro474=) c.1530A>C (p.Pro510=) c.*1507A>C (n.*1507A>C) | |
| 10 | g.49655236A>G | CA469605752 | CHAT | c.1776A>G (p.Pro592=) c.*613A>G (n.*613A>G) n.413A>G c.639A>G (p.Pro213=) c.1422A>G (p.Pro474=) c.1530A>G (p.Pro510=) c.*1507A>G (n.*1507A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655236A>T | CA469605754 | CHAT | c.1776A>T (p.Pro592=) c.*613A>T (n.*613A>T) n.413A>T c.639A>T (p.Pro213=) c.1422A>T (p.Pro474=) c.1530A>T (p.Pro510=) c.*1507A>T (n.*1507A>T) | gnomAD v4 |
| 10 | g.49655237G>A | CA376748282 | CHAT | c.1776+1G>A (n.1776+1G>A) c.*613+1G>A (n.*613+1G>A) n.413+1G>A c.639+1G>A (n.639+1G>A) c.1422+1G>A (n.1422+1G>A) c.1530+1G>A (n.1530+1G>A) c.*1507+1G>A (n.*1507+1G>A) | |
| 10 | g.49655237G>C | CA376748287 | CHAT | c.1776+1G>C (n.1776+1G>C) c.*613+1G>C (n.*613+1G>C) n.413+1G>C c.639+1G>C (n.639+1G>C) c.1422+1G>C (n.1422+1G>C) c.1530+1G>C (n.1530+1G>C) c.*1507+1G>C (n.*1507+1G>C) | |
| 10 | g.49655237G>T | CA376748290 | CHAT | c.1776+1G>T (n.1776+1G>T) c.*613+1G>T (n.*613+1G>T) n.413+1G>T c.639+1G>T (n.639+1G>T) c.1422+1G>T (n.1422+1G>T) c.1530+1G>T (n.1530+1G>T) c.*1507+1G>T (n.*1507+1G>T) | |
| 10 | g.49655238T>A | CA376748293 | CHAT | c.1776+2T>A (n.1776+2T>A) c.*613+2T>A (n.*613+2T>A) n.413+2T>A c.639+2T>A (n.639+2T>A) c.1422+2T>A (n.1422+2T>A) c.1530+2T>A (n.1530+2T>A) c.*1507+2T>A (n.*1507+2T>A) | |
| 10 | g.49655238T>C | CA376748298 | CHAT | c.1776+2T>C (n.1776+2T>C) c.*613+2T>C (n.*613+2T>C) n.413+2T>C c.639+2T>C (n.639+2T>C) c.1422+2T>C (n.1422+2T>C) c.1530+2T>C (n.1530+2T>C) c.*1507+2T>C (n.*1507+2T>C) | COSMIC COSMIC |
| 10 | g.49655238T>G | CA376748297 | CHAT | c.1776+2T>G (n.1776+2T>G) c.*613+2T>G (n.*613+2T>G) n.413+2T>G c.639+2T>G (n.639+2T>G) c.1422+2T>G (n.1422+2T>G) c.1530+2T>G (n.1530+2T>G) c.*1507+2T>G (n.*1507+2T>G) | |
| 10 | g.49655240A= | CA1908834695 | CHAT | c.1776+4A= (n.1776+4A=) c.*613+4A= (n.*613+4A=) n.413+4A= c.639+4A= (n.639+4A=) c.1422+4A= (n.1422+4A=) c.1530+4A= (n.1530+4A=) c.*1507+4A= (n.*1507+4A=) | |
| 10 | g.49655240A>T | CA1908834694 | CHAT | c.1776+4A>T (n.1776+4A>T) c.*613+4A>T (n.*613+4A>T) n.413+4A>T c.639+4A>T (n.639+4A>T) c.1422+4A>T (n.1422+4A>T) c.1530+4A>T (n.1530+4A>T) c.*1507+4A>T (n.*1507+4A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49655241G>T | CA2574545560 | CHAT | c.1776+5G>T (n.1776+5G>T) c.*613+5G>T (n.*613+5G>T) n.413+5G>T c.639+5G>T (n.639+5G>T) c.1422+5G>T (n.1422+5G>T) c.1530+5G>T (n.1530+5G>T) c.*1507+5G>T (n.*1507+5G>T) | |
| 10 | g.49655242T>G | CA1908834697 | CHAT | c.1776+6T>G (n.1776+6T>G) c.*613+6T>G (n.*613+6T>G) n.413+6T>G c.639+6T>G (n.639+6T>G) c.1422+6T>G (n.1422+6T>G) c.1530+6T>G (n.1530+6T>G) c.*1507+6T>G (n.*1507+6T>G) | dbSNP |
| 10 | g.49655242T= | CA1908834696 | CHAT | c.1776+6T= (n.1776+6T=) c.*613+6T= (n.*613+6T=) n.413+6T= c.639+6T= (n.639+6T=) c.1422+6T= (n.1422+6T=) c.1530+6T= (n.1530+6T=) c.*1507+6T= (n.*1507+6T=) | |
| 10 | g.49655243C>A | CA1908834699 | CHAT | c.1776+7C>A (n.1776+7C>A) c.*613+7C>A (n.*613+7C>A) n.413+7C>A c.639+7C>A (n.639+7C>A) c.1422+7C>A (n.1422+7C>A) c.1530+7C>A (n.1530+7C>A) c.*1507+7C>A (n.*1507+7C>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49655243C= | CA1908834698 | CHAT | c.1776+7C= (n.1776+7C=) c.*613+7C= (n.*613+7C=) n.413+7C= c.639+7C= (n.639+7C=) c.1422+7C= (n.1422+7C=) c.1530+7C= (n.1530+7C=) c.*1507+7C= (n.*1507+7C=) | |
| 10 | g.49655243C>G | CA206641844 | CHAT | c.1776+7C>G (n.1776+7C>G) c.*613+7C>G (n.*613+7C>G) n.413+7C>G c.639+7C>G (n.639+7C>G) c.1422+7C>G (n.1422+7C>G) c.1530+7C>G (n.1530+7C>G) c.*1507+7C>G (n.*1507+7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49655243C>T | CA5497610 | CHAT | c.1776+7C>T (n.1776+7C>T) c.*613+7C>T (n.*613+7C>T) n.413+7C>T c.639+7C>T (n.639+7C>T) c.1422+7C>T (n.1422+7C>T) c.1530+7C>T (n.1530+7C>T) c.*1507+7C>T (n.*1507+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49655244C>T | CA2609118439 | CHAT | c.1776+8C>T (n.1776+8C>T) c.*613+8C>T (n.*613+8C>T) n.413+8C>T c.639+8C>T (n.639+8C>T) c.1422+8C>T (n.1422+8C>T) c.1530+8C>T (n.1530+8C>T) c.*1507+8C>T (n.*1507+8C>T) | gnomAD v4 |