| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18786096T>A | CA404884954 | COMP | c.1358A>T (p.Asn453Ile) c.1199A>T (p.Asn400Ile) c.1259A>T (p.Asn420Ile) | |
| 19 | g.18786096T>C | CA120168 | COMP | c.1358A>G (p.Asn453Ser) c.1199A>G (p.Asn400Ser) c.1259A>G (p.Asn420Ser) | ClinVar dbSNP |
| 19 | g.18786096T>G | CA404884957 | COMP | c.1358A>C (p.Asn453Thr) c.1199A>C (p.Asn400Thr) c.1259A>C (p.Asn420Thr) | ClinVar |
| 19 | g.18786096T= | CA2326525560 | COMP | c.1358A= (p.Asn453=) c.1199A= (p.Asn400=) c.1259A= (p.Asn420=) | |
| 19 | g.18786097T>A | CA404884979 | COMP | c.1357A>T (p.Asn453Tyr) c.1198A>T (p.Asn400Tyr) c.1258A>T (p.Asn420Tyr) | |
| 19 | g.18786097T>C | CA404884981 | COMP | c.1357A>G (p.Asn453Asp) c.1198A>G (p.Asn400Asp) c.1258A>G (p.Asn420Asp) | |
| 19 | g.18786097T>G | CA404884973 | COMP | c.1357A>C (p.Asn453His) c.1198A>C (p.Asn400His) c.1258A>C (p.Asn420His) | |
| 19 | g.18786098A>C | CA506052692 | COMP | c.1356T>G (p.Pro452=) c.1197T>G (p.Pro399=) c.1257T>G (p.Pro419=) | |
| 19 | g.18786098A>G | CA506052693 | COMP | c.1356T>C (p.Pro452=) c.1197T>C (p.Pro399=) c.1257T>C (p.Pro419=) | |
| 19 | g.18786098A>T | CA506052694 | COMP | c.1356T>A (p.Pro452=) c.1197T>A (p.Pro399=) c.1257T>A (p.Pro419=) | |
| 19 | g.18786099G>A | CA9316432 | COMP | c.1355C>T (p.Pro452Leu) c.1196C>T (p.Pro399Leu) c.1256C>T (p.Pro419Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786099G>C | CA404884986 | COMP | c.1355C>G (p.Pro452Arg) c.1196C>G (p.Pro399Arg) c.1256C>G (p.Pro419Arg) | |
| 19 | g.18786099G= | CA2326525561 | COMP | c.1355C= (p.Pro452=) c.1196C= (p.Pro399=) c.1256C= (p.Pro419=) | |
| 19 | g.18786099G>T | CA404884996 | COMP | c.1355C>A (p.Pro452His) c.1196C>A (p.Pro399His) c.1256C>A (p.Pro419His) | |
| 19 | g.18786100G>A | CA404885010 | COMP | c.1354C>T (p.Pro452Ser) c.1195C>T (p.Pro399Ser) c.1255C>T (p.Pro419Ser) | dbSNP gnomAD v4 |
| 19 | g.18786100G>C | CA404885015 | COMP | c.1354C>G (p.Pro452Ala) c.1195C>G (p.Pro399Ala) c.1255C>G (p.Pro419Ala) | |
| 19 | g.18786100G= | CA2326525562 | COMP | c.1354C= (p.Pro452=) c.1195C= (p.Pro399=) c.1255C= (p.Pro419=) | |
| 19 | g.18786100G>T | CA404885013 | COMP | c.1354C>A (p.Pro452Thr) c.1195C>A (p.Pro399Thr) c.1255C>A (p.Pro419Thr) | dbSNP |
| 19 | g.18786101C>A | CA506052699 | COMP | c.1353G>T (p.Val451=) c.1194G>T (p.Val398=) c.1254G>T (p.Val418=) | |
| 19 | g.18786101C= | CA2326525563 | COMP | c.1353G= (p.Val451=) c.1194G= (p.Val398=) c.1254G= (p.Val418=) | |
| 19 | g.18786101C>G | CA506052698 | COMP | c.1353G>C (p.Val451=) c.1194G>C (p.Val398=) c.1254G>C (p.Val418=) | |
| 19 | g.18786101C>T | CA306255357 | COMP | c.1353G>A (p.Val451=) c.1194G>A (p.Val398=) c.1254G>A (p.Val418=) | dbSNP gnomAD v4 |
| 19 | g.18786101_18786102insCCAGGGACA | CA2695228433 | COMP | c.1352_1353insTGTCCCTGG (p.Val451_Pro452insValProGly) c.1193_1194insTGTCCCTGG (p.Val398_Pro399insValProGly) c.1253_1254insTGTCCCTGG (p.Val418_Pro419insValProGly) | |
| 19 | g.18786102A= | CA2326525564 | COMP | c.1352T= (p.Val451=) c.1193T= (p.Val398=) c.1253T= (p.Val418=) | |
| 19 | g.18786102A>C | CA9316433 | COMP | c.1352T>G (p.Val451Gly) c.1193T>G (p.Val398Gly) c.1253T>G (p.Val418Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786102A>G | CA404885023 | COMP | c.1352T>C (p.Val451Ala) c.1193T>C (p.Val398Ala) c.1253T>C (p.Val418Ala) | |
| 19 | g.18786102A>T | CA404885020 | COMP | c.1352T>A (p.Val451Glu) c.1193T>A (p.Val398Glu) c.1253T>A (p.Val418Glu) | |
| 19 | g.18786103C>A | CA404885029 | COMP | c.1351G>T (p.Val451Leu) c.1192G>T (p.Val398Leu) c.1252G>T (p.Val418Leu) | COSMIC |
| 19 | g.18786103C>G | CA404885032 | COMP | c.1351G>C (p.Val451Leu) c.1192G>C (p.Val398Leu) c.1252G>C (p.Val418Leu) | |
| 19 | g.18786103C>T | CA404885034 | COMP | c.1351G>A (p.Val451Met) c.1192G>A (p.Val398Met) c.1252G>A (p.Val418Met) | |
| 19 | g.18786104C>A | CA506052701 | COMP | c.1350G>T (p.Thr450=) c.1191G>T (p.Thr397=) c.1251G>T (p.Thr417=) | gnomAD v4 |
| 19 | g.18786104C= | CA2326525565 | COMP | c.1350G= (p.Thr450=) c.1191G= (p.Thr397=) c.1251G= (p.Thr417=) | |
| 19 | g.18786104C>G | CA506052702 | COMP | c.1350G>C (p.Thr450=) c.1191G>C (p.Thr397=) c.1251G>C (p.Thr417=) | dbSNP gnomAD v4 |
| 19 | g.18786104C>T | CA506052703 | COMP | c.1350G>A (p.Thr450=) c.1191G>A (p.Thr397=) c.1251G>A (p.Thr417=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786105G>A | CA404885038 | COMP | c.1349C>T (p.Thr450Met) c.1190C>T (p.Thr397Met) c.1250C>T (p.Thr417Met) | dbSNP gnomAD v4 |
| 19 | g.18786105G>C | CA404885040 | COMP | c.1349C>G (p.Thr450Arg) c.1190C>G (p.Thr397Arg) c.1250C>G (p.Thr417Arg) | |
| 19 | g.18786105G= | CA2326525566 | COMP | c.1349C= (p.Thr450=) c.1190C= (p.Thr397=) c.1250C= (p.Thr417=) | |
| 19 | g.18786105G>T | CA404885043 | COMP | c.1349C>A (p.Thr450Lys) c.1190C>A (p.Thr397Lys) c.1250C>A (p.Thr417Lys) | |
| 19 | g.18786106T>A | CA404885045 | COMP | c.1348A>T (p.Thr450Ser) c.1189A>T (p.Thr397Ser) c.1249A>T (p.Thr417Ser) | |
| 19 | g.18786106T>C | CA404885046 | COMP | c.1348A>G (p.Thr450Ala) c.1189A>G (p.Thr397Ala) c.1249A>G (p.Thr417Ala) | |
| 19 | g.18786106T>G | CA404885047 | COMP | c.1348A>C (p.Thr450Pro) c.1189A>C (p.Thr397Pro) c.1249A>C (p.Thr417Pro) | |
| 19 | g.18786107G>A | CA9316434 | COMP | c.1347C>T (p.Pro449=) c.1188C>T (p.Pro396=) c.1248C>T (p.Pro416=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786107G>C | CA506052706 | COMP | c.1347C>G (p.Pro449=) c.1188C>G (p.Pro396=) c.1248C>G (p.Pro416=) | |
| 19 | g.18786107G= | CA2326525567 | COMP | c.1347C= (p.Pro449=) c.1188C= (p.Pro396=) c.1248C= (p.Pro416=) | |
| 19 | g.18786107G>T | CA506052707 | COMP | c.1347C>A (p.Pro449=) c.1188C>A (p.Pro396=) c.1248C>A (p.Pro416=) | |
| 19 | g.18786107_18786109del | CA2695228434 | COMP | c.1345_1347del (p.Pro449del) c.1186_1188del (p.Pro396del) c.1246_1248del (p.Pro416del) | |
| 19 | g.18786108G>A | CA404885053 | COMP | c.1346C>T (p.Pro449Leu) c.1187C>T (p.Pro396Leu) c.1247C>T (p.Pro416Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786108G>C | CA404885052 | COMP | c.1346C>G (p.Pro449Arg) c.1187C>G (p.Pro396Arg) c.1247C>G (p.Pro416Arg) | |
| 19 | g.18786108G= | CA2326525568 | COMP | c.1346C= (p.Pro449=) c.1187C= (p.Pro396=) c.1247C= (p.Pro416=) | |
| 19 | g.18786108G>T | CA404885051 | COMP | c.1346C>A (p.Pro449His) c.1187C>A (p.Pro396His) c.1247C>A (p.Pro416His) |