| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49655134C>A | CA469605654 | CHAT | c.1674C>A (p.Ser558=) c.*511C>A (n.*511C>A) n.311C>A c.537C>A (p.Ser179=) c.1320C>A (p.Ser440=) c.1428C>A (p.Ser476=) c.*1405C>A (n.*1405C>A) | |
| 10 | g.49655134C= | CA1908834650 | CHAT | c.1674C= (p.Ser558=) c.*511C= (n.*511C=) n.311C= c.537C= (p.Ser179=) c.1320C= (p.Ser440=) c.1428C= (p.Ser476=) c.*1405C= (n.*1405C=) | |
| 10 | g.49655134C>G | CA469605655 | CHAT | c.1674C>G (p.Ser558=) c.*511C>G (n.*511C>G) n.311C>G c.537C>G (p.Ser179=) c.1320C>G (p.Ser440=) c.1428C>G (p.Ser476=) c.*1405C>G (n.*1405C>G) | |
| 10 | g.49655134C>T | CA152343 | CHAT | c.1674C>T (p.Ser558=) c.*511C>T (n.*511C>T) n.311C>T c.537C>T (p.Ser179=) c.1320C>T (p.Ser440=) c.1428C>T (p.Ser476=) c.*1405C>T (n.*1405C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655135A= | CA1908834651 | CHAT | c.1675A= (p.Ile559=) c.*512A= (n.*512A=) n.312A= c.538A= (p.Ile180=) c.1321A= (p.Ile441=) c.1429A= (p.Ile477=) c.*1406A= (n.*1406A=) | |
| 10 | g.49655135A>C | CA376747315 | CHAT | c.1675A>C (p.Ile559Leu) c.*512A>C (n.*512A>C) n.312A>C c.538A>C (p.Ile180Leu) c.1321A>C (p.Ile441Leu) c.1429A>C (p.Ile477Leu) c.*1406A>C (n.*1406A>C) | |
| 10 | g.49655135A>G | CA5497594 | CHAT | c.1675A>G (p.Ile559Val) c.*512A>G (n.*512A>G) n.312A>G c.538A>G (p.Ile180Val) c.1321A>G (p.Ile441Val) c.1429A>G (p.Ile477Val) c.*1406A>G (n.*1406A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655135A>T | CA376747330 | CHAT | c.1675A>T (p.Ile559Phe) c.*512A>T (n.*512A>T) n.312A>T c.538A>T (p.Ile180Phe) c.1321A>T (p.Ile441Phe) c.1429A>T (p.Ile477Phe) c.*1406A>T (n.*1406A>T) | |
| 10 | g.49655136T>A | CA376747334 | CHAT | c.1676T>A (p.Ile559Asn) c.*513T>A (n.*513T>A) n.313T>A c.539T>A (p.Ile180Asn) c.1322T>A (p.Ile441Asn) c.1430T>A (p.Ile477Asn) c.*1407T>A (n.*1407T>A) | |
| 10 | g.49655136T>C | CA376747335 | CHAT | c.1676T>C (p.Ile559Thr) c.*513T>C (n.*513T>C) n.313T>C c.539T>C (p.Ile180Thr) c.1322T>C (p.Ile441Thr) c.1430T>C (p.Ile477Thr) c.*1407T>C (n.*1407T>C) | gnomAD v4 |
| 10 | g.49655136T>G | CA376747336 | CHAT | c.1676T>G (p.Ile559Ser) c.*513T>G (n.*513T>G) n.313T>G c.539T>G (p.Ile180Ser) c.1322T>G (p.Ile441Ser) c.1430T>G (p.Ile477Ser) c.*1407T>G (n.*1407T>G) | |
| 10 | g.49655137C>A | CA469605659 | CHAT | c.1677C>A (p.Ile559=) c.*514C>A (n.*514C>A) n.314C>A c.540C>A (p.Ile180=) c.1323C>A (p.Ile441=) c.1431C>A (p.Ile477=) c.*1408C>A (n.*1408C>A) | |
| 10 | g.49655137C>G | CA376747337 | CHAT | c.1677C>G (p.Ile559Met) c.*514C>G (n.*514C>G) n.314C>G c.540C>G (p.Ile180Met) c.1323C>G (p.Ile441Met) c.1431C>G (p.Ile477Met) c.*1408C>G (n.*1408C>G) | |
| 10 | g.49655137C>T | CA469605660 | CHAT | c.1677C>T (p.Ile559=) c.*514C>T (n.*514C>T) n.314C>T c.540C>T (p.Ile180=) c.1323C>T (p.Ile441=) c.1431C>T (p.Ile477=) c.*1408C>T (n.*1408C>T) | |
| 10 | g.49655138C>A | CA376747346 | CHAT | c.1678C>A (p.Arg560Ser) c.*515C>A (n.*515C>A) n.315C>A c.541C>A (p.Arg181Ser) c.1324C>A (p.Arg442Ser) c.1432C>A (p.Arg478Ser) c.*1409C>A (n.*1409C>A) | |
| 10 | g.49655138C= | CA1908834652 | CHAT | c.1678C= (p.Arg560=) c.*515C= (n.*515C=) n.315C= c.541C= (p.Arg181=) c.1324C= (p.Arg442=) c.1432C= (p.Arg478=) c.*1409C= (n.*1409C=) | |
| 10 | g.49655138C>G | CA376747340 | CHAT | c.1678C>G (p.Arg560Gly) c.*515C>G (n.*515C>G) n.315C>G c.541C>G (p.Arg181Gly) c.1324C>G (p.Arg442Gly) c.1432C>G (p.Arg478Gly) c.*1409C>G (n.*1409C>G) | |
| 10 | g.49655138C>T | CA5497595 | CHAT | c.1678C>T (p.Arg560Cys) c.*515C>T (n.*515C>T) n.315C>T c.541C>T (p.Arg181Cys) c.1324C>T (p.Arg442Cys) c.1432C>T (p.Arg478Cys) c.*1409C>T (n.*1409C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49655139G>A | CA257987 | CHAT | c.1679G>A (p.Arg560His) c.*516G>A (n.*516G>A) n.316G>A c.542G>A (p.Arg181His) c.1325G>A (p.Arg442His) c.1433G>A (p.Arg478His) c.*1410G>A (n.*1410G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655139G>C | CA376747352 | CHAT | c.1679G>C (p.Arg560Pro) c.*516G>C (n.*516G>C) n.316G>C c.542G>C (p.Arg181Pro) c.1325G>C (p.Arg442Pro) c.1433G>C (p.Arg478Pro) c.*1410G>C (n.*1410G>C) | |
| 10 | g.49655139G= | CA1908834653 | CHAT | c.1679G= (p.Arg560=) c.*516G= (n.*516G=) n.316G= c.542G= (p.Arg181=) c.1325G= (p.Arg442=) c.1433G= (p.Arg478=) c.*1410G= (n.*1410G=) | |
| 10 | g.49655139G>T | CA376747349 | CHAT | c.1679G>T (p.Arg560Leu) c.*516G>T (n.*516G>T) n.316G>T c.542G>T (p.Arg181Leu) c.1325G>T (p.Arg442Leu) c.1433G>T (p.Arg478Leu) c.*1410G>T (n.*1410G>T) | |
| 10 | g.49655140C>A | CA469605661 | CHAT | c.1680C>A (p.Arg560=) c.*517C>A (n.*517C>A) n.317C>A c.543C>A (p.Arg181=) c.1326C>A (p.Arg442=) c.1434C>A (p.Arg478=) c.*1411C>A (n.*1411C>A) | |
| 10 | g.49655140C>G | CA469605662 | CHAT | c.1680C>G (p.Arg560=) c.*517C>G (n.*517C>G) n.317C>G c.543C>G (p.Arg181=) c.1326C>G (p.Arg442=) c.1434C>G (p.Arg478=) c.*1411C>G (n.*1411C>G) | |
| 10 | g.49655140C>T | CA469605663 | CHAT | c.1680C>T (p.Arg560=) c.*517C>T (n.*517C>T) n.317C>T c.543C>T (p.Arg181=) c.1326C>T (p.Arg442=) c.1434C>T (p.Arg478=) c.*1411C>T (n.*1411C>T) | |
| 10 | g.49655141C>A | CA469605665 | CHAT | c.1681C>A (p.Arg561=) c.*518C>A (n.*518C>A) n.318C>A c.544C>A (p.Arg182=) c.1327C>A (p.Arg443=) c.1435C>A (p.Arg479=) c.*1412C>A (n.*1412C>A) | |
| 10 | g.49655141C= | CA1908834654 | CHAT | c.1681C= (p.Arg561=) c.*518C= (n.*518C=) n.318C= c.544C= (p.Arg182=) c.1327C= (p.Arg443=) c.1435C= (p.Arg479=) c.*1412C= (n.*1412C=) | |
| 10 | g.49655141C>G | CA376747355 | CHAT | c.1681C>G (p.Arg561Gly) c.*518C>G (n.*518C>G) n.318C>G c.544C>G (p.Arg182Gly) c.1327C>G (p.Arg443Gly) c.1435C>G (p.Arg479Gly) c.*1412C>G (n.*1412C>G) | dbSNP gnomAD v4 |
| 10 | g.49655141C>T | CA376747358 | CHAT | c.1681C>T (p.Arg561Ter) c.*518C>T (n.*518C>T) n.318C>T c.544C>T (p.Arg182Ter) c.1327C>T (p.Arg443Ter) c.1435C>T (p.Arg479Ter) c.*1412C>T (n.*1412C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655142G>A | CA152346 | CHAT | c.1682G>A (p.Arg561Gln) c.*519G>A (n.*519G>A) n.319G>A c.545G>A (p.Arg182Gln) c.1328G>A (p.Arg443Gln) c.1436G>A (p.Arg479Gln) c.*1413G>A (n.*1413G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655142G>C | CA376747363 | CHAT | c.1682G>C (p.Arg561Pro) c.*519G>C (n.*519G>C) n.319G>C c.545G>C (p.Arg182Pro) c.1328G>C (p.Arg443Pro) c.1436G>C (p.Arg479Pro) c.*1413G>C (n.*1413G>C) | |
| 10 | g.49655142G= | CA1908834655 | CHAT | c.1682G= (p.Arg561=) c.*519G= (n.*519G=) n.319G= c.545G= (p.Arg182=) c.1328G= (p.Arg443=) c.1436G= (p.Arg479=) c.*1413G= (n.*1413G=) | |
| 10 | g.49655142G>T | CA376747367 | CHAT | c.1682G>T (p.Arg561Leu) c.*519G>T (n.*519G>T) n.319G>T c.545G>T (p.Arg182Leu) c.1328G>T (p.Arg443Leu) c.1436G>T (p.Arg479Leu) c.*1413G>T (n.*1413G>T) | gnomAD v4 |
| 10 | g.49655143A>C | CA469605667 | CHAT | c.1683A>C (p.Arg561=) c.*520A>C (n.*520A>C) n.320A>C c.546A>C (p.Arg182=) c.1329A>C (p.Arg443=) c.1437A>C (p.Arg479=) c.*1414A>C (n.*1414A>C) | |
| 10 | g.49655143A>G | CA469605666 | CHAT | c.1683A>G (p.Arg561=) c.*520A>G (n.*520A>G) n.320A>G c.546A>G (p.Arg182=) c.1329A>G (p.Arg443=) c.1437A>G (p.Arg479=) c.*1414A>G (n.*1414A>G) | |
| 10 | g.49655143A>T | CA469605668 | CHAT | c.1683A>T (p.Arg561=) c.*520A>T (n.*520A>T) n.320A>T c.546A>T (p.Arg182=) c.1329A>T (p.Arg443=) c.1437A>T (p.Arg479=) c.*1414A>T (n.*1414A>T) | |
| 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) |