Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49655087C>T | CA2609118117 | CHAT | c.1635-8C>T (n.1635-8C>T) c.*472-8C>T (n.*472-8C>T) n.272-8C>T c.498-8C>T (n.498-8C>T) c.1281-8C>T (n.1281-8C>T) c.1389-8C>T (n.1389-8C>T) c.*1366-8C>T (n.*1366-8C>T) | gnomAD v4 |
10 | g.49655090C>A | CA593780874 | CHAT | c.1635-5C>A (n.1635-5C>A) c.*472-5C>A (n.*472-5C>A) n.272-5C>A c.498-5C>A (n.498-5C>A) c.1281-5C>A (n.1281-5C>A) c.1389-5C>A (n.1389-5C>A) c.*1366-5C>A (n.*1366-5C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49655090C= | CA1908834625 | CHAT | c.1635-5C= (n.1635-5C=) c.*472-5C= (n.*472-5C=) n.272-5C= c.498-5C= (n.498-5C=) c.1281-5C= (n.1281-5C=) c.1389-5C= (n.1389-5C=) c.*1366-5C= (n.*1366-5C=) | |
10 | g.49655090C>G | CA1908834626 | CHAT | c.1635-5C>G (n.1635-5C>G) c.*472-5C>G (n.*472-5C>G) n.272-5C>G c.498-5C>G (n.498-5C>G) c.1281-5C>G (n.1281-5C>G) c.1389-5C>G (n.1389-5C>G) c.*1366-5C>G (n.*1366-5C>G) | dbSNP |
10 | g.49655090C>T | CA5497577 | CHAT | c.1635-5C>T (n.1635-5C>T) c.*472-5C>T (n.*472-5C>T) n.272-5C>T c.498-5C>T (n.498-5C>T) c.1281-5C>T (n.1281-5C>T) c.1389-5C>T (n.1389-5C>T) c.*1366-5C>T (n.*1366-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.49655091G>A | CA593780875 | CHAT | c.1635-4G>A (n.1635-4G>A) c.*472-4G>A (n.*472-4G>A) n.272-4G>A c.498-4G>A (n.498-4G>A) c.1281-4G>A (n.1281-4G>A) c.1389-4G>A (n.1389-4G>A) c.*1366-4G>A (n.*1366-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655091G= | CA1908834627 | CHAT | c.1635-4G= (n.1635-4G=) c.*472-4G= (n.*472-4G=) n.272-4G= c.498-4G= (n.498-4G=) c.1281-4G= (n.1281-4G=) c.1389-4G= (n.1389-4G=) c.*1366-4G= (n.*1366-4G=) | |
10 | g.49655091G>T | CA2609118128 | CHAT | c.1635-4G>T (n.1635-4G>T) c.*472-4G>T (n.*472-4G>T) n.272-4G>T c.498-4G>T (n.498-4G>T) c.1281-4G>T (n.1281-4G>T) c.1389-4G>T (n.1389-4G>T) c.*1366-4G>T (n.*1366-4G>T) | gnomAD v4 |
10 | g.49655092C= | CA1908834628 | CHAT | c.1635-3C= (n.1635-3C=) c.*472-3C= (n.*472-3C=) n.272-3C= c.498-3C= (n.498-3C=) c.1281-3C= (n.1281-3C=) c.1389-3C= (n.1389-3C=) c.*1366-3C= (n.*1366-3C=) | |
10 | g.49655092C>G | CA5497578 | CHAT | c.1635-3C>G (n.1635-3C>G) c.*472-3C>G (n.*472-3C>G) n.272-3C>G c.498-3C>G (n.498-3C>G) c.1281-3C>G (n.1281-3C>G) c.1389-3C>G (n.1389-3C>G) c.*1366-3C>G (n.*1366-3C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655093A>C | CA376746995 | CHAT | c.1635-2A>C (n.1635-2A>C) c.*472-2A>C (n.*472-2A>C) n.272-2A>C c.498-2A>C (n.498-2A>C) c.1281-2A>C (n.1281-2A>C) c.1389-2A>C (n.1389-2A>C) c.*1366-2A>C (n.*1366-2A>C) | dbSNP |
10 | g.49655093A>G | CA376746997 | CHAT | c.1635-2A>G (n.1635-2A>G) c.*472-2A>G (n.*472-2A>G) n.272-2A>G c.498-2A>G (n.498-2A>G) c.1281-2A>G (n.1281-2A>G) c.1389-2A>G (n.1389-2A>G) c.*1366-2A>G (n.*1366-2A>G) | gnomAD v4 |
10 | g.49655093A>T | CA376747000 | CHAT | c.1635-2A>T (n.1635-2A>T) c.*472-2A>T (n.*472-2A>T) n.272-2A>T c.498-2A>T (n.498-2A>T) c.1281-2A>T (n.1281-2A>T) c.1389-2A>T (n.1389-2A>T) c.*1366-2A>T (n.*1366-2A>T) | |
10 | g.49655094G>A | CA376747004 | CHAT | c.1635-1G>A (n.1635-1G>A) c.*472-1G>A (n.*472-1G>A) n.272-1G>A c.498-1G>A (n.498-1G>A) c.1281-1G>A (n.1281-1G>A) c.1389-1G>A (n.1389-1G>A) c.*1366-1G>A (n.*1366-1G>A) | |
10 | g.49655094G>C | CA376747007 | CHAT | c.1635-1G>C (n.1635-1G>C) c.*472-1G>C (n.*472-1G>C) n.272-1G>C c.498-1G>C (n.498-1G>C) c.1281-1G>C (n.1281-1G>C) c.1389-1G>C (n.1389-1G>C) c.*1366-1G>C (n.*1366-1G>C) | |
10 | g.49655094G>T | CA376747011 | CHAT | c.1635-1G>T (n.1635-1G>T) c.*472-1G>T (n.*472-1G>T) n.272-1G>T c.498-1G>T (n.498-1G>T) c.1281-1G>T (n.1281-1G>T) c.1389-1G>T (n.1389-1G>T) c.*1366-1G>T (n.*1366-1G>T) | |
10 | g.49655095G>A | CA469605626 | CHAT | c.1635G>A (p.Arg545=) c.*472G>A (n.*472G>A) n.272G>A c.498G>A (p.Arg166=) c.1281G>A (p.Arg427=) c.1389G>A (p.Arg463=) c.*1366G>A (n.*1366G>A) | gnomAD v4 |
10 | g.49655095G>C | CA376747016 | CHAT | c.1635G>C (p.Arg545Ser) c.*472G>C (n.*472G>C) n.272G>C c.498G>C (p.Arg166Ser) c.1281G>C (p.Arg427Ser) c.1389G>C (p.Arg463Ser) c.*1366G>C (n.*1366G>C) | gnomAD v4 |
10 | g.49655095G= | CA1908834629 | CHAT | c.1635G= (p.Arg545=) c.*472G= (n.*472G=) n.272G= c.498G= (p.Arg166=) c.1281G= (p.Arg427=) c.1389G= (p.Arg463=) c.*1366G= (n.*1366G=) | |
10 | g.49655095G>T | CA5497579 | CHAT | c.1635G>T (p.Arg545Ser) c.*472G>T (n.*472G>T) n.272G>T c.498G>T (p.Arg166Ser) c.1281G>T (p.Arg427Ser) c.1389G>T (p.Arg463Ser) c.*1366G>T (n.*1366G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655096C>A | CA376747023 | CHAT | c.1636C>A (p.Leu546Ile) c.*473C>A (n.*473C>A) n.273C>A c.499C>A (p.Leu167Ile) c.1282C>A (p.Leu428Ile) c.1390C>A (p.Leu464Ile) c.*1367C>A (n.*1367C>A) | |
10 | g.49655096C>G | CA376747030 | CHAT | c.1636C>G (p.Leu546Val) c.*473C>G (n.*473C>G) n.273C>G c.499C>G (p.Leu167Val) c.1282C>G (p.Leu428Val) c.1390C>G (p.Leu464Val) c.*1367C>G (n.*1367C>G) | |
10 | g.49655096C>T | CA376747033 | CHAT | c.1636C>T (p.Leu546Phe) c.*473C>T (n.*473C>T) n.273C>T c.499C>T (p.Leu167Phe) c.1282C>T (p.Leu428Phe) c.1390C>T (p.Leu464Phe) c.*1367C>T (n.*1367C>T) | |
10 | g.49655097T>A | CA376747035 | CHAT | c.1637T>A (p.Leu546His) c.*474T>A (n.*474T>A) n.274T>A c.500T>A (p.Leu167His) c.1283T>A (p.Leu428His) c.1391T>A (p.Leu464His) c.*1368T>A (n.*1368T>A) | |
10 | g.49655097T>C | CA376747041 | CHAT | c.1637T>C (p.Leu546Pro) c.*474T>C (n.*474T>C) n.274T>C c.500T>C (p.Leu167Pro) c.1283T>C (p.Leu428Pro) c.1391T>C (p.Leu464Pro) c.*1368T>C (n.*1368T>C) | |
10 | g.49655097T>G | CA376747038 | CHAT | c.1637T>G (p.Leu546Arg) c.*474T>G (n.*474T>G) n.274T>G c.500T>G (p.Leu167Arg) c.1283T>G (p.Leu428Arg) c.1391T>G (p.Leu464Arg) c.*1368T>G (n.*1368T>G) | |
10 | g.49655098C>A | CA469605628 | CHAT | c.1638C>A (p.Leu546=) c.*475C>A (n.*475C>A) n.275C>A c.501C>A (p.Leu167=) c.1284C>A (p.Leu428=) c.1392C>A (p.Leu464=) c.*1369C>A (n.*1369C>A) | |
10 | g.49655098C>G | CA469605627 | CHAT | c.1638C>G (p.Leu546=) c.*475C>G (n.*475C>G) n.275C>G c.501C>G (p.Leu167=) c.1284C>G (p.Leu428=) c.1392C>G (p.Leu464=) c.*1369C>G (n.*1369C>G) | |
10 | g.49655098C>T | CA469605629 | CHAT | c.1638C>T (p.Leu546=) c.*475C>T (n.*475C>T) n.275C>T c.501C>T (p.Leu167=) c.1284C>T (p.Leu428=) c.1392C>T (p.Leu464=) c.*1369C>T (n.*1369C>T) | gnomAD v4 |
10 | g.49655099C>A | CA376747044 | CHAT | c.1639C>A (p.His547Asn) c.*476C>A (n.*476C>A) n.276C>A c.502C>A (p.His168Asn) c.1285C>A (p.His429Asn) c.1393C>A (p.His465Asn) c.*1370C>A (n.*1370C>A) | |
10 | g.49655099C= | CA1908834630 | CHAT | c.1639C= (p.His547=) c.*476C= (n.*476C=) n.276C= c.502C= (p.His168=) c.1285C= (p.His429=) c.1393C= (p.His465=) c.*1370C= (n.*1370C=) | |
10 | g.49655099C>G | CA376747048 | CHAT | c.1639C>G (p.His547Asp) c.*476C>G (n.*476C>G) n.276C>G c.502C>G (p.His168Asp) c.1285C>G (p.His429Asp) c.1393C>G (p.His465Asp) c.*1370C>G (n.*1370C>G) | |
10 | g.49655099C>T | CA376747051 | CHAT | c.1639C>T (p.His547Tyr) c.*476C>T (n.*476C>T) n.276C>T c.502C>T (p.His168Tyr) c.1285C>T (p.His429Tyr) c.1393C>T (p.His465Tyr) c.*1370C>T (n.*1370C>T) | dbSNP |
10 | g.49655100A>C | CA376747056 | CHAT | c.1640A>C (p.His547Pro) c.*477A>C (n.*477A>C) n.277A>C c.503A>C (p.His168Pro) c.1286A>C (p.His429Pro) c.1394A>C (p.His465Pro) c.*1371A>C (n.*1371A>C) | |
10 | g.49655100A>G | CA376747061 | CHAT | c.1640A>G (p.His547Arg) c.*477A>G (n.*477A>G) n.277A>G c.503A>G (p.His168Arg) c.1286A>G (p.His429Arg) c.1394A>G (p.His465Arg) c.*1371A>G (n.*1371A>G) | |
10 | g.49655100A>T | CA376747065 | CHAT | c.1640A>T (p.His547Leu) c.*477A>T (n.*477A>T) n.277A>T c.503A>T (p.His168Leu) c.1286A>T (p.His429Leu) c.1394A>T (p.His465Leu) c.*1371A>T (n.*1371A>T) | |
10 | g.49655101T>A | CA5497580 | CHAT | c.1641T>A (p.His547Gln) c.*478T>A (n.*478T>A) n.278T>A c.504T>A (p.His168Gln) c.1287T>A (p.His429Gln) c.1395T>A (p.His465Gln) c.*1372T>A (n.*1372T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49655101T>C | CA152340 | CHAT | c.1641T>C (p.His547=) c.*478T>C (n.*478T>C) n.278T>C c.504T>C (p.His168=) c.1287T>C (p.His429=) c.1395T>C (p.His465=) c.*1372T>C (n.*1372T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655101T>G | CA376747073 | CHAT | c.1641T>G (p.His547Gln) c.*478T>G (n.*478T>G) n.278T>G c.504T>G (p.His168Gln) c.1287T>G (p.His429Gln) c.1395T>G (p.His465Gln) c.*1372T>G (n.*1372T>G) | |
10 | g.49655101T= | CA1908834631 | CHAT | c.1641T= (p.His547=) c.*478T= (n.*478T=) n.278T= c.504T= (p.His168=) c.1287T= (p.His429=) c.1395T= (p.His465=) c.*1372T= (n.*1372T=) | |
10 | g.49655101_49655102delinsCT | CA2739265361 | CHAT | c.1641_1642delinsCT (p.His548Ter) c.*478_*479delinsCT (n.*478_*479delinsCT) n.278_279delinsCT c.504_505delinsCT (p.His169Ter) c.1287_1288delinsCT (p.His430Ter) c.1395_1396delinsCT (p.His466Ter) c.*1372_*1373delinsCT (n.*1372_*1373delinsCT) | ClinVar |
10 | g.49655102C>A | CA469605630 | CHAT | c.1642C>A (p.Arg548=) c.*479C>A (n.*479C>A) n.279C>A c.505C>A (p.Arg169=) c.1288C>A (p.Arg430=) c.1396C>A (p.Arg466=) c.*1373C>A (n.*1373C>A) | |
10 | g.49655102C= | CA1908834632 | CHAT | c.1642C= (p.Arg548=) c.*479C= (n.*479C=) n.279C= c.505C= (p.Arg169=) c.1288C= (p.Arg430=) c.1396C= (p.Arg466=) c.*1373C= (n.*1373C=) | |
10 | g.49655102C>G | CA376747078 | CHAT | c.1642C>G (p.Arg548Gly) c.*479C>G (n.*479C>G) n.279C>G c.505C>G (p.Arg169Gly) c.1288C>G (p.Arg430Gly) c.1396C>G (p.Arg466Gly) c.*1373C>G (n.*1373C>G) | |
10 | g.49655102C>T | CA5497581 | CHAT | c.1642C>T (p.Arg548Ter) c.*479C>T (n.*479C>T) n.279C>T c.505C>T (p.Arg169Ter) c.1288C>T (p.Arg430Ter) c.1396C>T (p.Arg466Ter) c.*1373C>T (n.*1373C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.49655103G>A | CA5497582 | CHAT | c.1643G>A (p.Arg548Gln) c.*480G>A (n.*480G>A) n.280G>A c.506G>A (p.Arg169Gln) c.1289G>A (p.Arg430Gln) c.1397G>A (p.Arg466Gln) c.*1374G>A (n.*1374G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.49655103G>C | CA376747089 | CHAT | c.1643G>C (p.Arg548Pro) c.*480G>C (n.*480G>C) n.280G>C c.506G>C (p.Arg169Pro) c.1289G>C (p.Arg430Pro) c.1397G>C (p.Arg466Pro) c.*1374G>C (n.*1374G>C) | |
10 | g.49655103G= | CA1908834633 | CHAT | c.1643G= (p.Arg548=) c.*480G= (n.*480G=) n.280G= c.506G= (p.Arg169=) c.1289G= (p.Arg430=) c.1397G= (p.Arg466=) c.*1374G= (n.*1374G=) | |
10 | g.49655103G>T | CA376747094 | CHAT | c.1643G>T (p.Arg548Leu) c.*480G>T (n.*480G>T) n.280G>T c.506G>T (p.Arg169Leu) c.1289G>T (p.Arg430Leu) c.1397G>T (p.Arg466Leu) c.*1374G>T (n.*1374G>T) | COSMIC COSMIC |
10 | g.49655104A>C | CA469605632 | CHAT | c.1644A>C (p.Arg548=) c.*481A>C (n.*481A>C) n.281A>C c.507A>C (p.Arg169=) c.1290A>C (p.Arg430=) c.1398A>C (p.Arg466=) c.*1375A>C (n.*1375A>C) | |
10 | g.49655104A>G | CA469605634 | CHAT | c.1644A>G (p.Arg548=) c.*481A>G (n.*481A>G) n.281A>G c.507A>G (p.Arg169=) c.1290A>G (p.Arg430=) c.1398A>G (p.Arg466=) c.*1375A>G (n.*1375A>G) | |
10 | g.49655104A>T | CA469605633 | CHAT | c.1644A>T (p.Arg548=) c.*481A>T (n.*481A>T) n.281A>T c.507A>T (p.Arg169=) c.1290A>T (p.Arg430=) c.1398A>T (p.Arg466=) c.*1375A>T (n.*1375A>T) | |
10 | g.49655105A>C | CA469605635 | CHAT | c.1645A>C (p.Arg549=) c.*482A>C (n.*482A>C) n.282A>C c.508A>C (p.Arg170=) c.1291A>C (p.Arg431=) c.1399A>C (p.Arg467=) c.*1376A>C (n.*1376A>C) | |
10 | g.49655105A>G | CA376747097 | CHAT | c.1645A>G (p.Arg549Gly) c.*482A>G (n.*482A>G) n.282A>G c.508A>G (p.Arg170Gly) c.1291A>G (p.Arg431Gly) c.1399A>G (p.Arg467Gly) c.*1376A>G (n.*1376A>G) | |
10 | g.49655105A>T | CA376747101 | CHAT | c.1645A>T (p.Arg549Ter) c.*482A>T (n.*482A>T) n.282A>T c.508A>T (p.Arg170Ter) c.1291A>T (p.Arg431Ter) c.1399A>T (p.Arg467Ter) c.*1376A>T (n.*1376A>T) | |
10 | g.49655106G>A | CA376747105 | CHAT | c.1646G>A (p.Arg549Lys) c.*483G>A (n.*483G>A) n.283G>A c.509G>A (p.Arg170Lys) c.1292G>A (p.Arg431Lys) c.1400G>A (p.Arg467Lys) c.*1377G>A (n.*1377G>A) | |
10 | g.49655106G>C | CA376747109 | CHAT | c.1646G>C (p.Arg549Thr) c.*483G>C (n.*483G>C) n.283G>C c.509G>C (p.Arg170Thr) c.1292G>C (p.Arg431Thr) c.1400G>C (p.Arg467Thr) c.*1377G>C (n.*1377G>C) | |
10 | g.49655106G= | CA1908834634 | CHAT | c.1646G= (p.Arg549=) c.*483G= (n.*483G=) n.283G= c.509G= (p.Arg170=) c.1292G= (p.Arg431=) c.1400G= (p.Arg467=) c.*1377G= (n.*1377G=) | |
10 | g.49655106G>T | CA5497583 | CHAT | c.1646G>T (p.Arg549Ile) c.*483G>T (n.*483G>T) n.283G>T c.509G>T (p.Arg170Ile) c.1292G>T (p.Arg431Ile) c.1400G>T (p.Arg467Ile) c.*1377G>T (n.*1377G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655107A= | CA1908834635 | CHAT | c.1647A= (p.Arg549=) c.*484A= (n.*484A=) n.284A= c.510A= (p.Arg170=) c.1293A= (p.Arg431=) c.1401A= (p.Arg467=) c.*1378A= (n.*1378A=) | |
10 | g.49655107A>C | CA376747116 | CHAT | c.1647A>C (p.Arg549Ser) c.*484A>C (n.*484A>C) n.284A>C c.510A>C (p.Arg170Ser) c.1293A>C (p.Arg431Ser) c.1401A>C (p.Arg467Ser) c.*1378A>C (n.*1378A>C) | |
10 | g.49655107A>G | CA5497584 | CHAT | c.1647A>G (p.Arg549=) c.*484A>G (n.*484A>G) n.284A>G c.510A>G (p.Arg170=) c.1293A>G (p.Arg431=) c.1401A>G (p.Arg467=) c.*1378A>G (n.*1378A>G) | dbSNP ExAC gnomAD v4 |
10 | g.49655107A>T | CA376747120 | CHAT | c.1647A>T (p.Arg549Ser) c.*484A>T (n.*484A>T) n.284A>T c.510A>T (p.Arg170Ser) c.1293A>T (p.Arg431Ser) c.1401A>T (p.Arg467Ser) c.*1378A>T (n.*1378A>T) | |
10 | g.49655108C>A | CA376747126 | CHAT | c.1648C>A (p.Leu550Met) c.*485C>A (n.*485C>A) n.285C>A c.511C>A (p.Leu171Met) c.1294C>A (p.Leu432Met) c.1402C>A (p.Leu468Met) c.*1379C>A (n.*1379C>A) | |
10 | g.49655108C>G | CA376747128 | CHAT | c.1648C>G (p.Leu550Val) c.*485C>G (n.*485C>G) n.285C>G c.511C>G (p.Leu171Val) c.1294C>G (p.Leu432Val) c.1402C>G (p.Leu468Val) c.*1379C>G (n.*1379C>G) | |
10 | g.49655108C>T | CA469605636 | CHAT | c.1648C>T (p.Leu550=) c.*485C>T (n.*485C>T) n.285C>T c.511C>T (p.Leu171=) c.1294C>T (p.Leu432=) c.1402C>T (p.Leu468=) c.*1379C>T (n.*1379C>T) | |
10 | g.49655109T>A | CA376747133 | CHAT | c.1649T>A (p.Leu550Gln) c.*486T>A (n.*486T>A) n.286T>A c.512T>A (p.Leu171Gln) c.1295T>A (p.Leu432Gln) c.1403T>A (p.Leu468Gln) c.*1380T>A (n.*1380T>A) | |
10 | g.49655109T>C | CA376747134 | CHAT | c.1649T>C (p.Leu550Pro) c.*486T>C (n.*486T>C) n.286T>C c.512T>C (p.Leu171Pro) c.1295T>C (p.Leu432Pro) c.1403T>C (p.Leu468Pro) c.*1380T>C (n.*1380T>C) | gnomAD v4 |
10 | g.49655109T>G | CA376747138 | CHAT | c.1649T>G (p.Leu550Arg) c.*486T>G (n.*486T>G) n.286T>G c.512T>G (p.Leu171Arg) c.1295T>G (p.Leu432Arg) c.1403T>G (p.Leu468Arg) c.*1380T>G (n.*1380T>G) | |
10 | g.49655110G>A | CA469605638 | CHAT | c.1650G>A (p.Leu550=) c.*487G>A (n.*487G>A) n.287G>A c.513G>A (p.Leu171=) c.1296G>A (p.Leu432=) c.1404G>A (p.Leu468=) c.*1381G>A (n.*1381G>A) | ClinVar |
10 | g.49655110G>C | CA469605637 | CHAT | c.1650G>C (p.Leu550=) c.*487G>C (n.*487G>C) n.287G>C c.513G>C (p.Leu171=) c.1296G>C (p.Leu432=) c.1404G>C (p.Leu468=) c.*1381G>C (n.*1381G>C) | |
10 | g.49655110G>T | CA469605639 | CHAT | c.1650G>T (p.Leu550=) c.*487G>T (n.*487G>T) n.287G>T c.513G>T (p.Leu171=) c.1296G>T (p.Leu432=) c.1404G>T (p.Leu468=) c.*1381G>T (n.*1381G>T) | |
10 | g.49655111G>A | CA376747144 | CHAT | c.1651G>A (p.Val551Met) c.*488G>A (n.*488G>A) n.288G>A c.514G>A (p.Val172Met) c.1297G>A (p.Val433Met) c.1405G>A (p.Val469Met) c.*1382G>A (n.*1382G>A) | |
10 | g.49655111G>C | CA376747152 | CHAT | c.1651G>C (p.Val551Leu) c.*488G>C (n.*488G>C) n.288G>C c.514G>C (p.Val172Leu) c.1297G>C (p.Val433Leu) c.1405G>C (p.Val469Leu) c.*1382G>C (n.*1382G>C) | ClinVar dbSNP gnomAD v4 |
10 | g.49655111G= | CA1908834636 | CHAT | c.1651G= (p.Val551=) c.*488G= (n.*488G=) n.288G= c.514G= (p.Val172=) c.1297G= (p.Val433=) c.1405G= (p.Val469=) c.*1382G= (n.*1382G=) | |
10 | g.49655111G>T | CA376747149 | CHAT | c.1651G>T (p.Val551Leu) c.*488G>T (n.*488G>T) n.288G>T c.514G>T (p.Val172Leu) c.1297G>T (p.Val433Leu) c.1405G>T (p.Val469Leu) c.*1382G>T (n.*1382G>T) | |
10 | g.49655112T>A | CA376747156 | CHAT | c.1652T>A (p.Val551Glu) c.*489T>A (n.*489T>A) n.289T>A c.515T>A (p.Val172Glu) c.1298T>A (p.Val433Glu) c.1406T>A (p.Val469Glu) c.*1383T>A (n.*1383T>A) | |
10 | g.49655112T>C | CA376747162 | CHAT | c.1652T>C (p.Val551Ala) c.*489T>C (n.*489T>C) n.289T>C c.515T>C (p.Val172Ala) c.1298T>C (p.Val433Ala) c.1406T>C (p.Val469Ala) c.*1383T>C (n.*1383T>C) | COSMIC COSMIC |
10 | g.49655112T>G | CA376747159 | CHAT | c.1652T>G (p.Val551Gly) c.*489T>G (n.*489T>G) n.289T>G c.515T>G (p.Val172Gly) c.1298T>G (p.Val433Gly) c.1406T>G (p.Val469Gly) c.*1383T>G (n.*1383T>G) | ClinVar dbSNP |
10 | g.49655112T= | CA1908834637 | CHAT | c.1652T= (p.Val551=) c.*489T= (n.*489T=) n.289T= c.515T= (p.Val172=) c.1298T= (p.Val433=) c.1406T= (p.Val469=) c.*1383T= (n.*1383T=) | |
10 | g.49655113G>A | CA469605641 | CHAT | c.1653G>A (p.Val551=) c.*490G>A (n.*490G>A) n.290G>A c.516G>A (p.Val172=) c.1299G>A (p.Val433=) c.1407G>A (p.Val469=) c.*1384G>A (n.*1384G>A) | gnomAD v4 |
10 | g.49655113G>C | CA469605640 | CHAT | c.1653G>C (p.Val551=) c.*490G>C (n.*490G>C) n.290G>C c.516G>C (p.Val172=) c.1299G>C (p.Val433=) c.1407G>C (p.Val469=) c.*1384G>C (n.*1384G>C) | |
10 | g.49655113G>T | CA469605642 | CHAT | c.1653G>T (p.Val551=) c.*490G>T (n.*490G>T) n.290G>T c.516G>T (p.Val172=) c.1299G>T (p.Val433=) c.1407G>T (p.Val469=) c.*1384G>T (n.*1384G>T) | |
10 | g.49655114C>A | CA376747165 | CHAT | c.1654C>A (p.Pro552Thr) c.*491C>A (n.*491C>A) n.291C>A c.517C>A (p.Pro173Thr) c.1300C>A (p.Pro434Thr) c.1408C>A (p.Pro470Thr) c.*1385C>A (n.*1385C>A) | |
10 | g.49655114C= | CA1908834638 | CHAT | c.1654C= (p.Pro552=) c.*491C= (n.*491C=) n.291C= c.517C= (p.Pro173=) c.1300C= (p.Pro434=) c.1408C= (p.Pro470=) c.*1385C= (n.*1385C=) | |
10 | g.49655114C>G | CA376747168 | CHAT | c.1654C>G (p.Pro552Ala) c.*491C>G (n.*491C>G) n.291C>G c.517C>G (p.Pro173Ala) c.1300C>G (p.Pro434Ala) c.1408C>G (p.Pro470Ala) c.*1385C>G (n.*1385C>G) | |
10 | g.49655114C>T | CA5497585 | CHAT | c.1654C>T (p.Pro552Ser) c.*491C>T (n.*491C>T) n.291C>T c.517C>T (p.Pro173Ser) c.1300C>T (p.Pro434Ser) c.1408C>T (p.Pro470Ser) c.*1385C>T (n.*1385C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655115C>A | CA376747173 | CHAT | c.1655C>A (p.Pro552His) c.*492C>A (n.*492C>A) n.292C>A c.518C>A (p.Pro173His) c.1301C>A (p.Pro434His) c.1409C>A (p.Pro470His) c.*1386C>A (n.*1386C>A) | |
10 | g.49655115C>G | CA376747176 | CHAT | c.1655C>G (p.Pro552Arg) c.*492C>G (n.*492C>G) n.292C>G c.518C>G (p.Pro173Arg) c.1301C>G (p.Pro434Arg) c.1409C>G (p.Pro470Arg) c.*1386C>G (n.*1386C>G) | |
10 | g.49655115C>T | CA376747179 | CHAT | c.1655C>T (p.Pro552Leu) c.*492C>T (n.*492C>T) n.292C>T c.518C>T (p.Pro173Leu) c.1301C>T (p.Pro434Leu) c.1409C>T (p.Pro470Leu) c.*1386C>T (n.*1386C>T) | |
10 | g.49655117_49655119dup | CA2609118187 | CHAT | c.1657_1659dup (p.Thr553_Tyr554insThr) c.*494_*496dup (n.*494_*496dup) n.294_296dup c.520_522dup (p.Thr174_Tyr175insThr) c.1303_1305dup (p.Thr435_Tyr436insThr) c.1411_1413dup (p.Thr471_Tyr472insThr) c.*1388_*1390dup (n.*1388_*1390dup) | gnomAD v4 |
10 | g.49655116C>A | CA469605643 | CHAT | c.1656C>A (p.Pro552=) c.*493C>A (n.*493C>A) n.293C>A c.519C>A (p.Pro173=) c.1302C>A (p.Pro434=) c.1410C>A (p.Pro470=) c.*1387C>A (n.*1387C>A) | |
10 | g.49655116C= | CA1908834639 | CHAT | c.1656C= (p.Pro552=) c.*493C= (n.*493C=) n.293C= c.519C= (p.Pro173=) c.1302C= (p.Pro434=) c.1410C= (p.Pro470=) c.*1387C= (n.*1387C=) | |
10 | g.49655116C>G | CA469605645 | CHAT | c.1656C>G (p.Pro552=) c.*493C>G (n.*493C>G) n.293C>G c.519C>G (p.Pro173=) c.1302C>G (p.Pro434=) c.1410C>G (p.Pro470=) c.*1387C>G (n.*1387C>G) | |
10 | g.49655116C>T | CA469605644 | CHAT | c.1656C>T (p.Pro552=) c.*493C>T (n.*493C>T) n.293C>T c.519C>T (p.Pro173=) c.1302C>T (p.Pro434=) c.1410C>T (p.Pro470=) c.*1387C>T (n.*1387C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655117A= | CA1908834640 | CHAT | c.1657A= (p.Thr553=) c.*494A= (n.*494A=) n.294A= c.520A= (p.Thr174=) c.1303A= (p.Thr435=) c.1411A= (p.Thr471=) c.*1388A= (n.*1388A=) | |
10 | g.49655117A>C | CA5497586 | CHAT | c.1657A>C (p.Thr553Pro) c.*494A>C (n.*494A>C) n.294A>C c.520A>C (p.Thr174Pro) c.1303A>C (p.Thr435Pro) c.1411A>C (p.Thr471Pro) c.*1388A>C (n.*1388A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49655117A>G | CA376747184 | CHAT | c.1657A>G (p.Thr553Ala) c.*494A>G (n.*494A>G) n.294A>G c.520A>G (p.Thr174Ala) c.1303A>G (p.Thr435Ala) c.1411A>G (p.Thr471Ala) c.*1388A>G (n.*1388A>G) | |
10 | g.49655117A>T | CA376747186 | CHAT | c.1657A>T (p.Thr553Ser) c.*494A>T (n.*494A>T) n.294A>T c.520A>T (p.Thr174Ser) c.1303A>T (p.Thr435Ser) c.1411A>T (p.Thr471Ser) c.*1388A>T (n.*1388A>T) | |
10 | g.49655118C>A | CA376747189 | CHAT | c.1658C>A (p.Thr553Asn) c.*495C>A (n.*495C>A) n.295C>A c.521C>A (p.Thr174Asn) c.1304C>A (p.Thr435Asn) c.1412C>A (p.Thr471Asn) c.*1389C>A (n.*1389C>A) | |
10 | g.49655118C>G | CA376747191 | CHAT | c.1658C>G (p.Thr553Ser) c.*495C>G (n.*495C>G) n.295C>G c.521C>G (p.Thr174Ser) c.1304C>G (p.Thr435Ser) c.1412C>G (p.Thr471Ser) c.*1389C>G (n.*1389C>G) | |
10 | g.49655118C>T | CA376747194 | CHAT | c.1658C>T (p.Thr553Ile) c.*495C>T (n.*495C>T) n.295C>T c.521C>T (p.Thr174Ile) c.1304C>T (p.Thr435Ile) c.1412C>T (p.Thr471Ile) c.*1389C>T (n.*1389C>T) | |
10 | g.49655119C>A | CA469605647 | CHAT | c.1659C>A (p.Thr553=) c.*496C>A (n.*496C>A) n.296C>A c.522C>A (p.Thr174=) c.1305C>A (p.Thr435=) c.1413C>A (p.Thr471=) c.*1390C>A (n.*1390C>A) | |
10 | g.49655119C>G | CA469605646 | CHAT | c.1659C>G (p.Thr553=) c.*496C>G (n.*496C>G) n.296C>G c.522C>G (p.Thr174=) c.1305C>G (p.Thr435=) c.1413C>G (p.Thr471=) c.*1390C>G (n.*1390C>G) | |
10 | g.49655119C>T | CA469605648 | CHAT | c.1659C>T (p.Thr553=) c.*496C>T (n.*496C>T) n.296C>T c.522C>T (p.Thr174=) c.1305C>T (p.Thr435=) c.1413C>T (p.Thr471=) c.*1390C>T (n.*1390C>T) | |
10 | g.49655120T>A | CA376747201 | CHAT | c.1660T>A (p.Tyr554Asn) c.*497T>A (n.*497T>A) n.297T>A c.523T>A (p.Tyr175Asn) c.1306T>A (p.Tyr436Asn) c.1414T>A (p.Tyr472Asn) c.*1391T>A (n.*1391T>A) | |
10 | g.49655120T>C | CA376747198 | CHAT | c.1660T>C (p.Tyr554His) c.*497T>C (n.*497T>C) n.297T>C c.523T>C (p.Tyr175His) c.1306T>C (p.Tyr436His) c.1414T>C (p.Tyr472His) c.*1391T>C (n.*1391T>C) | |
10 | g.49655120T>G | CA376747200 | CHAT | c.1660T>G (p.Tyr554Asp) c.*497T>G (n.*497T>G) n.297T>G c.523T>G (p.Tyr175Asp) c.1306T>G (p.Tyr436Asp) c.1414T>G (p.Tyr472Asp) c.*1391T>G (n.*1391T>G) | |
10 | g.49655121A= | CA1908834641 | CHAT | c.1661A= (p.Tyr554=) c.*498A= (n.*498A=) n.298A= c.524A= (p.Tyr175=) c.1307A= (p.Tyr436=) c.1415A= (p.Tyr472=) c.*1392A= (n.*1392A=) | |
10 | g.49655121A>C | CA376747207 | CHAT | c.1661A>C (p.Tyr554Ser) c.*498A>C (n.*498A>C) n.298A>C c.524A>C (p.Tyr175Ser) c.1307A>C (p.Tyr436Ser) c.1415A>C (p.Tyr472Ser) c.*1392A>C (n.*1392A>C) | |
10 | g.49655121A>G | CA5497587 | CHAT | c.1661A>G (p.Tyr554Cys) c.*498A>G (n.*498A>G) n.298A>G c.524A>G (p.Tyr175Cys) c.1307A>G (p.Tyr436Cys) c.1415A>G (p.Tyr472Cys) c.*1392A>G (n.*1392A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49655121A>T | CA376747211 | CHAT | c.1661A>T (p.Tyr554Phe) c.*498A>T (n.*498A>T) n.298A>T c.524A>T (p.Tyr175Phe) c.1307A>T (p.Tyr436Phe) c.1415A>T (p.Tyr472Phe) c.*1392A>T (n.*1392A>T) | |
10 | g.49655122C>A | CA376747216 | CHAT | c.1662C>A (p.Tyr554Ter) c.*499C>A (n.*499C>A) n.299C>A c.525C>A (p.Tyr175Ter) c.1308C>A (p.Tyr436Ter) c.1416C>A (p.Tyr472Ter) c.*1393C>A (n.*1393C>A) | |
10 | g.49655122C= | CA1908834642 | CHAT | c.1662C= (p.Tyr554=) c.*499C= (n.*499C=) n.299C= c.525C= (p.Tyr175=) c.1308C= (p.Tyr436=) c.1416C= (p.Tyr472=) c.*1393C= (n.*1393C=) | |
10 | g.49655122C>G | CA376747219 | CHAT | c.1662C>G (p.Tyr554Ter) c.*499C>G (n.*499C>G) n.299C>G c.525C>G (p.Tyr175Ter) c.1308C>G (p.Tyr436Ter) c.1416C>G (p.Tyr472Ter) c.*1393C>G (n.*1393C>G) | gnomAD v4 |
10 | g.49655122C>T | CA5497588 | CHAT | c.1662C>T (p.Tyr554=) c.*499C>T (n.*499C>T) n.299C>T c.525C>T (p.Tyr175=) c.1308C>T (p.Tyr436=) c.1416C>T (p.Tyr472=) c.*1393C>T (n.*1393C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49655123G>A | CA5497589 | CHAT | c.1663G>A (p.Glu555Lys) c.*500G>A (n.*500G>A) n.300G>A c.526G>A (p.Glu176Lys) c.1309G>A (p.Glu437Lys) c.1417G>A (p.Glu473Lys) c.*1394G>A (n.*1394G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655123G>C | CA376747225 | CHAT | c.1663G>C (p.Glu555Gln) c.*500G>C (n.*500G>C) n.300G>C c.526G>C (p.Glu176Gln) c.1309G>C (p.Glu437Gln) c.1417G>C (p.Glu473Gln) c.*1394G>C (n.*1394G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49655123G= | CA1908834643 | CHAT | c.1663G= (p.Glu555=) c.*500G= (n.*500G=) n.300G= c.526G= (p.Glu176=) c.1309G= (p.Glu437=) c.1417G= (p.Glu473=) c.*1394G= (n.*1394G=) | |
10 | g.49655123G>T | CA206641734 | CHAT | c.1663G>T (p.Glu555Ter) c.*500G>T (n.*500G>T) n.300G>T c.526G>T (p.Glu176Ter) c.1309G>T (p.Glu437Ter) c.1417G>T (p.Glu473Ter) c.*1394G>T (n.*1394G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655124A>C | CA376747230 | CHAT | c.1664A>C (p.Glu555Ala) c.*501A>C (n.*501A>C) n.301A>C c.527A>C (p.Glu176Ala) c.1310A>C (p.Glu437Ala) c.1418A>C (p.Glu473Ala) c.*1395A>C (n.*1395A>C) | |
10 | g.49655124A>G | CA376747232 | CHAT | c.1664A>G (p.Glu555Gly) c.*501A>G (n.*501A>G) n.301A>G c.527A>G (p.Glu176Gly) c.1310A>G (p.Glu437Gly) c.1418A>G (p.Glu473Gly) c.*1395A>G (n.*1395A>G) | |
10 | g.49655124A>T | CA376747234 | CHAT | c.1664A>T (p.Glu555Val) c.*501A>T (n.*501A>T) n.301A>T c.527A>T (p.Glu176Val) c.1310A>T (p.Glu437Val) c.1418A>T (p.Glu473Val) c.*1395A>T (n.*1395A>T) | |
10 | g.49655125G>A | CA469605649 | CHAT | c.1665G>A (p.Glu555=) c.*502G>A (n.*502G>A) n.302G>A c.528G>A (p.Glu176=) c.1311G>A (p.Glu437=) c.1419G>A (p.Glu473=) c.*1396G>A (n.*1396G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49655125G>C | CA376747242 | CHAT | c.1665G>C (p.Glu555Asp) c.*502G>C (n.*502G>C) n.302G>C c.528G>C (p.Glu176Asp) c.1311G>C (p.Glu437Asp) c.1419G>C (p.Glu473Asp) c.*1396G>C (n.*1396G>C) | |
10 | g.49655125G= | CA1908834644 | CHAT | c.1665G= (p.Glu555=) c.*502G= (n.*502G=) n.302G= c.528G= (p.Glu176=) c.1311G= (p.Glu437=) c.1419G= (p.Glu473=) c.*1396G= (n.*1396G=) | |
10 | g.49655125G>T | CA376747238 | CHAT | c.1665G>T (p.Glu555Asp) c.*502G>T (n.*502G>T) n.302G>T c.528G>T (p.Glu176Asp) c.1311G>T (p.Glu437Asp) c.1419G>T (p.Glu473Asp) c.*1396G>T (n.*1396G>T) | |
10 | g.49655126A>C | CA376747245 | CHAT | c.1666A>C (p.Ser556Arg) c.*503A>C (n.*503A>C) n.303A>C c.529A>C (p.Ser177Arg) c.1312A>C (p.Ser438Arg) c.1420A>C (p.Ser474Arg) c.*1397A>C (n.*1397A>C) | |
10 | g.49655126A>G | CA376747252 | CHAT | c.1666A>G (p.Ser556Gly) c.*503A>G (n.*503A>G) n.303A>G c.529A>G (p.Ser177Gly) c.1312A>G (p.Ser438Gly) c.1420A>G (p.Ser474Gly) c.*1397A>G (n.*1397A>G) | |
10 | g.49655126A>T | CA376747248 | CHAT | c.1666A>T (p.Ser556Cys) c.*503A>T (n.*503A>T) n.303A>T c.529A>T (p.Ser177Cys) c.1312A>T (p.Ser438Cys) c.1420A>T (p.Ser474Cys) c.*1397A>T (n.*1397A>T) | |
10 | g.49655127G>A | CA376747255 | CHAT | c.1667G>A (p.Ser556Asn) c.*504G>A (n.*504G>A) n.304G>A c.530G>A (p.Ser177Asn) c.1313G>A (p.Ser438Asn) c.1421G>A (p.Ser474Asn) c.*1398G>A (n.*1398G>A) | |
10 | g.49655127G>C | CA376747257 | CHAT | c.1667G>C (p.Ser556Thr) c.*504G>C (n.*504G>C) n.304G>C c.530G>C (p.Ser177Thr) c.1313G>C (p.Ser438Thr) c.1421G>C (p.Ser474Thr) c.*1398G>C (n.*1398G>C) | |
10 | g.49655127G>T | CA376747261 | CHAT | c.1667G>T (p.Ser556Ile) c.*504G>T (n.*504G>T) n.304G>T c.530G>T (p.Ser177Ile) c.1313G>T (p.Ser438Ile) c.1421G>T (p.Ser474Ile) c.*1398G>T (n.*1398G>T) | |
10 | g.49655128C>A | CA376747262 | CHAT | c.1668C>A (p.Ser556Arg) c.*505C>A (n.*505C>A) n.305C>A c.531C>A (p.Ser177Arg) c.1314C>A (p.Ser438Arg) c.1422C>A (p.Ser474Arg) c.*1399C>A (n.*1399C>A) | dbSNP gnomAD v4 |
10 | g.49655128C= | CA1908834645 | CHAT | c.1668C= (p.Ser556=) c.*505C= (n.*505C=) n.305C= c.531C= (p.Ser177=) c.1314C= (p.Ser438=) c.1422C= (p.Ser474=) c.*1399C= (n.*1399C=) | |
10 | g.49655128C>G | CA206641743 | CHAT | c.1668C>G (p.Ser556Arg) c.*505C>G (n.*505C>G) n.305C>G c.531C>G (p.Ser177Arg) c.1314C>G (p.Ser438Arg) c.1422C>G (p.Ser474Arg) c.*1399C>G (n.*1399C>G) | dbSNP gnomAD v4 |
10 | g.49655128C>T | CA5497590 | CHAT | c.1668C>T (p.Ser556=) c.*505C>T (n.*505C>T) n.305C>T c.531C>T (p.Ser177=) c.1314C>T (p.Ser438=) c.1422C>T (p.Ser474=) c.*1399C>T (n.*1399C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.49655129G>A | CA5497591 | CHAT | c.1669G>A (p.Ala557Thr) c.*506G>A (n.*506G>A) n.306G>A c.532G>A (p.Ala178Thr) c.1315G>A (p.Ala439Thr) c.1423G>A (p.Ala475Thr) c.*1400G>A (n.*1400G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.49655129G>C | CA376747265 | CHAT | c.1669G>C (p.Ala557Pro) c.*506G>C (n.*506G>C) n.306G>C c.532G>C (p.Ala178Pro) c.1315G>C (p.Ala439Pro) c.1423G>C (p.Ala475Pro) c.*1400G>C (n.*1400G>C) | |
10 | g.49655129G= | CA1908834646 | CHAT | c.1669G= (p.Ala557=) c.*506G= (n.*506G=) n.306G= c.532G= (p.Ala178=) c.1315G= (p.Ala439=) c.1423G= (p.Ala475=) c.*1400G= (n.*1400G=) | |
10 | g.49655129G>T | CA376747268 | CHAT | c.1669G>T (p.Ala557Ser) c.*506G>T (n.*506G>T) n.306G>T c.532G>T (p.Ala178Ser) c.1315G>T (p.Ala439Ser) c.1423G>T (p.Ala475Ser) c.*1400G>T (n.*1400G>T) | |
10 | g.49655130C>A | CA376747277 | CHAT | c.1670C>A (p.Ala557Glu) c.*507C>A (n.*507C>A) n.307C>A c.533C>A (p.Ala178Glu) c.1316C>A (p.Ala439Glu) c.1424C>A (p.Ala475Glu) c.*1401C>A (n.*1401C>A) | |
10 | g.49655130C= | CA1908834647 | CHAT | c.1670C= (p.Ala557=) c.*507C= (n.*507C=) n.307C= c.533C= (p.Ala178=) c.1316C= (p.Ala439=) c.1424C= (p.Ala475=) c.*1401C= (n.*1401C=) | |
10 | g.49655130C>G | CA376747282 | CHAT | c.1670C>G (p.Ala557Gly) c.*507C>G (n.*507C>G) n.307C>G c.533C>G (p.Ala178Gly) c.1316C>G (p.Ala439Gly) c.1424C>G (p.Ala475Gly) c.*1401C>G (n.*1401C>G) | |
10 | g.49655130C>T | CA5497592 | CHAT | c.1670C>T (p.Ala557Val) c.*507C>T (n.*507C>T) n.307C>T c.533C>T (p.Ala178Val) c.1316C>T (p.Ala439Val) c.1424C>T (p.Ala475Val) c.*1401C>T (n.*1401C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.49655131G>A | CA5497593 | CHAT | c.1671G>A (p.Ala557=) c.*508G>A (n.*508G>A) n.308G>A c.534G>A (p.Ala178=) c.1317G>A (p.Ala439=) c.1425G>A (p.Ala475=) c.*1402G>A (n.*1402G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49655131G>C | CA469605651 | CHAT | c.1671G>C (p.Ala557=) c.*508G>C (n.*508G>C) n.308G>C c.534G>C (p.Ala178=) c.1317G>C (p.Ala439=) c.1425G>C (p.Ala475=) c.*1402G>C (n.*1402G>C) | |
10 | g.49655131G= | CA1908834648 | CHAT | c.1671G= (p.Ala557=) c.*508G= (n.*508G=) n.308G= c.534G= (p.Ala178=) c.1317G= (p.Ala439=) c.1425G= (p.Ala475=) c.*1402G= (n.*1402G=) | |
10 | g.49655131G>T | CA469605650 | CHAT | c.1671G>T (p.Ala557=) c.*508G>T (n.*508G>T) n.308G>T c.534G>T (p.Ala178=) c.1317G>T (p.Ala439=) c.1425G>T (p.Ala475=) c.*1402G>T (n.*1402G>T) | |
10 | g.49655132T>A | CA376747286 | CHAT | c.1672T>A (p.Ser558Thr) c.*509T>A (n.*509T>A) n.309T>A c.535T>A (p.Ser179Thr) c.1318T>A (p.Ser440Thr) c.1426T>A (p.Ser476Thr) c.*1403T>A (n.*1403T>A) | |
10 | g.49655132T>C | CA376747297 | CHAT | c.1672T>C (p.Ser558Pro) c.*509T>C (n.*509T>C) n.309T>C c.535T>C (p.Ser179Pro) c.1318T>C (p.Ser440Pro) c.1426T>C (p.Ser476Pro) c.*1403T>C (n.*1403T>C) | gnomAD v4 |
10 | g.49655132T>G | CA376747299 | CHAT | c.1672T>G (p.Ser558Ala) c.*509T>G (n.*509T>G) n.309T>G c.535T>G (p.Ser179Ala) c.1318T>G (p.Ser440Ala) c.1426T>G (p.Ser476Ala) c.*1403T>G (n.*1403T>G) | |
10 | g.49655133C>A | CA376747303 | CHAT | c.1673C>A (p.Ser558Tyr) c.*510C>A (n.*510C>A) n.310C>A c.536C>A (p.Ser179Tyr) c.1319C>A (p.Ser440Tyr) c.1427C>A (p.Ser476Tyr) c.*1404C>A (n.*1404C>A) | |
10 | g.49655133C= | CA1908834649 | CHAT | c.1673C= (p.Ser558=) c.*510C= (n.*510C=) n.310C= c.536C= (p.Ser179=) c.1319C= (p.Ser440=) c.1427C= (p.Ser476=) c.*1404C= (n.*1404C=) | |
10 | g.49655133C>G | CA376747304 | CHAT | c.1673C>G (p.Ser558Cys) c.*510C>G (n.*510C>G) n.310C>G c.536C>G (p.Ser179Cys) c.1319C>G (p.Ser440Cys) c.1427C>G (p.Ser476Cys) c.*1404C>G (n.*1404C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49655133C>T | CA376747308 | CHAT | c.1673C>T (p.Ser558Phe) c.*510C>T (n.*510C>T) n.310C>T c.536C>T (p.Ser179Phe) c.1319C>T (p.Ser440Phe) c.1427C>T (p.Ser476Phe) c.*1404C>T (n.*1404C>T) | |
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) | |
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) |