| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99146458A= | CA1867263710 | TGFBR1 | c.924-27A= (n.924-27A=) c.936-27A= (n.936-27A=) c.*53-27A= (n.*53-27A=) c.693-27A= (n.693-27A=) c.*927-27A= (n.*927-27A=) c.1131-27A= (n.1131-27A=) c.900-27A= (n.900-27A=) c.1143-1196A= (n.1143-1196A=) c.1143-27A= (n.1143-27A=) | |
| 9 | g.99146458A>C | CA869141456 | TGFBR1 | c.924-27A>C (n.924-27A>C) c.936-27A>C (n.936-27A>C) c.*53-27A>C (n.*53-27A>C) c.693-27A>C (n.693-27A>C) c.*927-27A>C (n.*927-27A>C) c.1131-27A>C (n.1131-27A>C) c.900-27A>C (n.900-27A>C) c.1143-1196A>C (n.1143-1196A>C) c.1143-27A>C (n.1143-27A>C) | dbSNP gnomAD v4 |
| 9 | g.99146459A= | CA1867263713 | TGFBR1 | c.924-26A= (n.924-26A=) c.936-26A= (n.936-26A=) c.*53-26A= (n.*53-26A=) c.693-26A= (n.693-26A=) c.*927-26A= (n.*927-26A=) c.1131-26A= (n.1131-26A=) c.900-26A= (n.900-26A=) c.1143-1195A= (n.1143-1195A=) c.1143-26A= (n.1143-26A=) | |
| 9 | g.99146459A>G | CA044088 | TGFBR1 | c.924-26A>G (n.924-26A>G) c.936-26A>G (n.936-26A>G) c.*53-26A>G (n.*53-26A>G) c.693-26A>G (n.693-26A>G) c.*927-26A>G (n.*927-26A>G) c.1131-26A>G (n.1131-26A>G) c.900-26A>G (n.900-26A>G) c.1143-1195A>G (n.1143-1195A>G) c.1143-26A>G (n.1143-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.99146460A= | CA1867263717 | TGFBR1 | c.924-25A= (n.924-25A=) c.936-25A= (n.936-25A=) c.*53-25A= (n.*53-25A=) c.693-25A= (n.693-25A=) c.*927-25A= (n.*927-25A=) c.1131-25A= (n.1131-25A=) c.900-25A= (n.900-25A=) c.1143-1194A= (n.1143-1194A=) c.1143-25A= (n.1143-25A=) | |
| 9 | g.99146460A>C | CA2690966506 | TGFBR1 | c.924-25A>C (n.924-25A>C) c.936-25A>C (n.936-25A>C) c.*53-25A>C (n.*53-25A>C) c.693-25A>C (n.693-25A>C) c.*927-25A>C (n.*927-25A>C) c.1131-25A>C (n.1131-25A>C) c.900-25A>C (n.900-25A>C) c.1143-1194A>C (n.1143-1194A>C) c.1143-25A>C (n.1143-25A>C) | gnomAD v4 |
| 9 | g.99146460A>G | CA044080 | TGFBR1 | c.924-25A>G (n.924-25A>G) c.936-25A>G (n.936-25A>G) c.*53-25A>G (n.*53-25A>G) c.693-25A>G (n.693-25A>G) c.*927-25A>G (n.*927-25A>G) c.1131-25A>G (n.1131-25A>G) c.900-25A>G (n.900-25A>G) c.1143-1194A>G (n.1143-1194A>G) c.1143-25A>G (n.1143-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146461G>A | CA2785270378 | TGFBR1 | c.924-24G>A (n.924-24G>A) c.936-24G>A (n.936-24G>A) c.*53-24G>A (n.*53-24G>A) c.693-24G>A (n.693-24G>A) c.*927-24G>A (n.*927-24G>A) c.1131-24G>A (n.1131-24G>A) c.900-24G>A (n.900-24G>A) c.1143-1193G>A (n.1143-1193G>A) c.1143-24G>A (n.1143-24G>A) | |
| 9 | g.99146462T>C | CA589362131 | TGFBR1 | c.924-23T>C (n.924-23T>C) c.936-23T>C (n.936-23T>C) c.*53-23T>C (n.*53-23T>C) c.693-23T>C (n.693-23T>C) c.*927-23T>C (n.*927-23T>C) c.1131-23T>C (n.1131-23T>C) c.900-23T>C (n.900-23T>C) c.1143-1192T>C (n.1143-1192T>C) c.1143-23T>C (n.1143-23T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146462T>G | CA2690966507 | TGFBR1 | c.924-23T>G (n.924-23T>G) c.936-23T>G (n.936-23T>G) c.*53-23T>G (n.*53-23T>G) c.693-23T>G (n.693-23T>G) c.*927-23T>G (n.*927-23T>G) c.1131-23T>G (n.1131-23T>G) c.900-23T>G (n.900-23T>G) c.1143-1192T>G (n.1143-1192T>G) c.1143-23T>G (n.1143-23T>G) | gnomAD v4 |
| 9 | g.99146462T= | CA1867263720 | TGFBR1 | c.924-23T= (n.924-23T=) c.936-23T= (n.936-23T=) c.*53-23T= (n.*53-23T=) c.693-23T= (n.693-23T=) c.*927-23T= (n.*927-23T=) c.1131-23T= (n.1131-23T=) c.900-23T= (n.900-23T=) c.1143-1192T= (n.1143-1192T=) c.1143-23T= (n.1143-23T=) | |
| 9 | g.99146463T>G | CA044070 | TGFBR1 | c.924-22T>G (n.924-22T>G) c.936-22T>G (n.936-22T>G) c.*53-22T>G (n.*53-22T>G) c.693-22T>G (n.693-22T>G) c.*927-22T>G (n.*927-22T>G) c.1131-22T>G (n.1131-22T>G) c.900-22T>G (n.900-22T>G) c.1143-1191T>G (n.1143-1191T>G) c.1143-22T>G (n.1143-22T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146463T= | CA1867263725 | TGFBR1 | c.924-22T= (n.924-22T=) c.936-22T= (n.936-22T=) c.*53-22T= (n.*53-22T=) c.693-22T= (n.693-22T=) c.*927-22T= (n.*927-22T=) c.1131-22T= (n.1131-22T=) c.900-22T= (n.900-22T=) c.1143-1191T= (n.1143-1191T=) c.1143-22T= (n.1143-22T=) | |
| 9 | g.99146465T>C | CA2690966508 | TGFBR1 | c.924-20T>C (n.924-20T>C) c.936-20T>C (n.936-20T>C) c.*53-20T>C (n.*53-20T>C) c.693-20T>C (n.693-20T>C) c.*927-20T>C (n.*927-20T>C) c.1131-20T>C (n.1131-20T>C) c.900-20T>C (n.900-20T>C) c.1143-1189T>C (n.1143-1189T>C) c.1143-20T>C (n.1143-20T>C) | gnomAD v4 |
| 9 | g.99146466T>C | CA589362132 | TGFBR1 | c.924-19T>C (n.924-19T>C) c.936-19T>C (n.936-19T>C) c.*53-19T>C (n.*53-19T>C) c.693-19T>C (n.693-19T>C) c.*927-19T>C (n.*927-19T>C) c.1131-19T>C (n.1131-19T>C) c.900-19T>C (n.900-19T>C) c.1143-1188T>C (n.1143-1188T>C) c.1143-19T>C (n.1143-19T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146466T>G | CA044062 | TGFBR1 | c.924-19T>G (n.924-19T>G) c.936-19T>G (n.936-19T>G) c.*53-19T>G (n.*53-19T>G) c.693-19T>G (n.693-19T>G) c.*927-19T>G (n.*927-19T>G) c.1131-19T>G (n.1131-19T>G) c.900-19T>G (n.900-19T>G) c.1143-1188T>G (n.1143-1188T>G) c.1143-19T>G (n.1143-19T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146466T= | CA1867263729 | TGFBR1 | c.924-19T= (n.924-19T=) c.936-19T= (n.936-19T=) c.*53-19T= (n.*53-19T=) c.693-19T= (n.693-19T=) c.*927-19T= (n.*927-19T=) c.1131-19T= (n.1131-19T=) c.900-19T= (n.900-19T=) c.1143-1188T= (n.1143-1188T=) c.1143-19T= (n.1143-19T=) | |
| 9 | g.99146469T>C | CA1127253518 | TGFBR1 | c.924-16T>C (n.924-16T>C) c.936-16T>C (n.936-16T>C) c.*53-16T>C (n.*53-16T>C) c.693-16T>C (n.693-16T>C) c.*927-16T>C (n.*927-16T>C) c.1131-16T>C (n.1131-16T>C) c.900-16T>C (n.900-16T>C) c.1143-1185T>C (n.1143-1185T>C) c.1143-16T>C (n.1143-16T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99146469T= | CA1867263732 | TGFBR1 | c.924-16T= (n.924-16T=) c.936-16T= (n.936-16T=) c.*53-16T= (n.*53-16T=) c.693-16T= (n.693-16T=) c.*927-16T= (n.*927-16T=) c.1131-16T= (n.1131-16T=) c.900-16T= (n.900-16T=) c.1143-1185T= (n.1143-1185T=) c.1143-16T= (n.1143-16T=) | |
| 9 | g.99146470G>A | CA653196597 | TGFBR1 | c.924-15G>A (n.924-15G>A) c.936-15G>A (n.936-15G>A) c.*53-15G>A (n.*53-15G>A) c.693-15G>A (n.693-15G>A) c.*927-15G>A (n.*927-15G>A) c.1131-15G>A (n.1131-15G>A) c.900-15G>A (n.900-15G>A) c.1143-1184G>A (n.1143-1184G>A) c.1143-15G>A (n.1143-15G>A) | COSMIC |
| 9 | g.99146473A>C | CA2542983564 | TGFBR1 | c.924-12A>C (n.924-12A>C) c.936-12A>C (n.936-12A>C) c.*53-12A>C (n.*53-12A>C) c.693-12A>C (n.693-12A>C) c.*927-12A>C (n.*927-12A>C) c.1131-12A>C (n.1131-12A>C) c.900-12A>C (n.900-12A>C) c.1143-1181A>C (n.1143-1181A>C) c.1143-12A>C (n.1143-12A>C) | ClinVar gnomAD v4 |
| 9 | g.99146474A>G | CA2720313754 | TGFBR1 | c.924-11A>G (n.924-11A>G) c.936-11A>G (n.936-11A>G) c.*53-11A>G (n.*53-11A>G) c.693-11A>G (n.693-11A>G) c.*927-11A>G (n.*927-11A>G) c.1131-11A>G (n.1131-11A>G) c.900-11A>G (n.900-11A>G) c.1143-1180A>G (n.1143-1180A>G) c.1143-11A>G (n.1143-11A>G) | dbSNP |
| 9 | g.99146474A>T | CA2580080864 | TGFBR1 | c.924-11A>T (n.924-11A>T) c.936-11A>T (n.936-11A>T) c.*53-11A>T (n.*53-11A>T) c.693-11A>T (n.693-11A>T) c.*927-11A>T (n.*927-11A>T) c.1131-11A>T (n.1131-11A>T) c.900-11A>T (n.900-11A>T) c.1143-1180A>T (n.1143-1180A>T) c.1143-11A>T (n.1143-11A>T) | ClinVar gnomAD v4 |
| 9 | g.99146474_99146475delinsAT | CA1867263734 | TGFBR1 | c.924-11_924-10delinsAT (n.924-11_924-10delinsAT) c.936-11_936-10delinsAT (n.936-11_936-10delinsAT) c.*53-11_*53-10delinsAT (n.*53-11_*53-10delinsAT) c.693-11_693-10delinsAT (n.693-11_693-10delinsAT) c.*927-11_*927-10delinsAT (n.*927-11_*927-10delinsAT) c.1131-11_1131-10delinsAT (n.1131-11_1131-10delinsAT) c.900-11_900-10delinsAT (n.900-11_900-10delinsAT) c.1143-1180_1143-1179delinsAT (n.1143-1180_1143-1179delinsAT) c.1143-11_1143-10delinsAT (n.1143-11_1143-10delinsAT) | |
| 9 | g.99146475T>A | CA869141479 | TGFBR1 | c.924-10T>A (n.924-10T>A) c.936-10T>A (n.936-10T>A) c.*53-10T>A (n.*53-10T>A) c.693-10T>A (n.693-10T>A) c.*927-10T>A (n.*927-10T>A) c.1131-10T>A (n.1131-10T>A) c.900-10T>A (n.900-10T>A) c.1143-1179T>A (n.1143-1179T>A) c.1143-10T>A (n.1143-10T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99146475T= | CA1867263740 | TGFBR1 | c.924-10T= (n.924-10T=) c.936-10T= (n.936-10T=) c.*53-10T= (n.*53-10T=) c.693-10T= (n.693-10T=) c.*927-10T= (n.*927-10T=) c.1131-10T= (n.1131-10T=) c.900-10T= (n.900-10T=) c.1143-1179T= (n.1143-1179T=) c.1143-10T= (n.1143-10T=) | |
| 9 | g.99146482dup | CA044047 | TGFBR1 | c.924-3dup (n.924-3dup) c.936-3dup (n.936-3dup) c.*53-3dup (n.*53-3dup) c.693-3dup (n.693-3dup) c.*927-3dup (n.*927-3dup) c.1131-3dup (n.1131-3dup) c.900-3dup (n.900-3dup) c.1143-1172dup (n.1143-1172dup) c.1143-3dup (n.1143-3dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146482del | CA196894096 | TGFBR1 | c.924-3del (n.924-3del) c.936-3del (n.936-3del) c.*53-3del (n.*53-3del) c.693-3del (n.693-3del) c.*927-3del (n.*927-3del) c.1131-3del (n.1131-3del) c.900-3del (n.900-3del) c.1143-1172del (n.1143-1172del) c.1143-3del (n.1143-3del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146476T>C | CA044150 | TGFBR1 | c.924-9T>C (n.924-9T>C) c.936-9T>C (n.936-9T>C) c.*53-9T>C (n.*53-9T>C) c.693-9T>C (n.693-9T>C) c.*927-9T>C (n.*927-9T>C) c.1131-9T>C (n.1131-9T>C) c.900-9T>C (n.900-9T>C) c.1143-1178T>C (n.1143-1178T>C) c.1143-9T>C (n.1143-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99146476T= | CA1867263742 | TGFBR1 | c.924-9T= (n.924-9T=) c.936-9T= (n.936-9T=) c.*53-9T= (n.*53-9T=) c.693-9T= (n.693-9T=) c.*927-9T= (n.*927-9T=) c.1131-9T= (n.1131-9T=) c.900-9T= (n.900-9T=) c.1143-1178T= (n.1143-1178T=) c.1143-9T= (n.1143-9T=) | |
| 9 | g.99146477T>A | CA1127253527 | TGFBR1 | c.924-8T>A (n.924-8T>A) c.936-8T>A (n.936-8T>A) c.*53-8T>A (n.*53-8T>A) c.693-8T>A (n.693-8T>A) c.*927-8T>A (n.*927-8T>A) c.1131-8T>A (n.1131-8T>A) c.900-8T>A (n.900-8T>A) c.1143-1177T>A (n.1143-1177T>A) c.1143-8T>A (n.1143-8T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99146477T>C | CA1867263745 | TGFBR1 | c.924-8T>C (n.924-8T>C) c.936-8T>C (n.936-8T>C) c.*53-8T>C (n.*53-8T>C) c.693-8T>C (n.693-8T>C) c.*927-8T>C (n.*927-8T>C) c.1131-8T>C (n.1131-8T>C) c.900-8T>C (n.900-8T>C) c.1143-1177T>C (n.1143-1177T>C) c.1143-8T>C (n.1143-8T>C) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146477T>G | CA1139661073 | TGFBR1 | c.924-8T>G (n.924-8T>G) c.936-8T>G (n.936-8T>G) c.*53-8T>G (n.*53-8T>G) c.693-8T>G (n.693-8T>G) c.*927-8T>G (n.*927-8T>G) c.1131-8T>G (n.1131-8T>G) c.900-8T>G (n.900-8T>G) c.1143-1177T>G (n.1143-1177T>G) c.1143-8T>G (n.1143-8T>G) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146477T= | CA1867263744 | TGFBR1 | c.924-8T= (n.924-8T=) c.936-8T= (n.936-8T=) c.*53-8T= (n.*53-8T=) c.693-8T= (n.693-8T=) c.*927-8T= (n.*927-8T=) c.1131-8T= (n.1131-8T=) c.900-8T= (n.900-8T=) c.1143-1177T= (n.1143-1177T=) c.1143-8T= (n.1143-8T=) | |
| 9 | g.99146478T>C | CA589362135 | TGFBR1 | c.924-7T>C (n.924-7T>C) c.936-7T>C (n.936-7T>C) c.*53-7T>C (n.*53-7T>C) c.693-7T>C (n.693-7T>C) c.*927-7T>C (n.*927-7T>C) c.1131-7T>C (n.1131-7T>C) c.900-7T>C (n.900-7T>C) c.1143-1176T>C (n.1143-1176T>C) c.1143-7T>C (n.1143-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146478T= | CA1867263747 | TGFBR1 | c.924-7T= (n.924-7T=) c.936-7T= (n.936-7T=) c.*53-7T= (n.*53-7T=) c.693-7T= (n.693-7T=) c.*927-7T= (n.*927-7T=) c.1131-7T= (n.1131-7T=) c.900-7T= (n.900-7T=) c.1143-1176T= (n.1143-1176T=) c.1143-7T= (n.1143-7T=) | |
| 9 | g.99146482T>C | CA2573144945 | TGFBR1 | c.924-3T>C (n.924-3T>C) c.936-3T>C (n.936-3T>C) c.*53-3T>C (n.*53-3T>C) c.693-3T>C (n.693-3T>C) c.*927-3T>C (n.*927-3T>C) c.1131-3T>C (n.1131-3T>C) c.900-3T>C (n.900-3T>C) c.1143-1172T>C (n.1143-1172T>C) c.1143-3T>C (n.1143-3T>C) | ClinVar dbSNP |
| 9 | g.99146483A>C | CA374232534 | TGFBR1 | c.924-2A>C (n.924-2A>C) c.936-2A>C (n.936-2A>C) c.*53-2A>C (n.*53-2A>C) c.693-2A>C (n.693-2A>C) c.*927-2A>C (n.*927-2A>C) c.1131-2A>C (n.1131-2A>C) c.900-2A>C (n.900-2A>C) c.1143-1171A>C (n.1143-1171A>C) c.1143-2A>C (n.1143-2A>C) | |
| 9 | g.99146483A>G | CA374232538 | TGFBR1 | c.924-2A>G (n.924-2A>G) c.936-2A>G (n.936-2A>G) c.*53-2A>G (n.*53-2A>G) c.693-2A>G (n.693-2A>G) c.*927-2A>G (n.*927-2A>G) c.1131-2A>G (n.1131-2A>G) c.900-2A>G (n.900-2A>G) c.1143-1171A>G (n.1143-1171A>G) c.1143-2A>G (n.1143-2A>G) | dbSNP |
| 9 | g.99146483A>T | CA374232540 | TGFBR1 | c.924-2A>T (n.924-2A>T) c.936-2A>T (n.936-2A>T) c.*53-2A>T (n.*53-2A>T) c.693-2A>T (n.693-2A>T) c.*927-2A>T (n.*927-2A>T) c.1131-2A>T (n.1131-2A>T) c.900-2A>T (n.900-2A>T) c.1143-1171A>T (n.1143-1171A>T) c.1143-2A>T (n.1143-2A>T) | |
| 9 | g.99146484G>A | CA374232542 | TGFBR1 | c.924-1G>A (n.924-1G>A) c.936-1G>A (n.936-1G>A) c.*53-1G>A (n.*53-1G>A) c.693-1G>A (n.693-1G>A) c.*927-1G>A (n.*927-1G>A) c.1131-1G>A (n.1131-1G>A) c.900-1G>A (n.900-1G>A) c.1143-1170G>A (n.1143-1170G>A) c.1143-1G>A (n.1143-1G>A) | ClinVar |
| 9 | g.99146484G>C | CA374232547 | TGFBR1 | c.924-1G>C (n.924-1G>C) c.936-1G>C (n.936-1G>C) c.*53-1G>C (n.*53-1G>C) c.693-1G>C (n.693-1G>C) c.*927-1G>C (n.*927-1G>C) c.1131-1G>C (n.1131-1G>C) c.900-1G>C (n.900-1G>C) c.1143-1170G>C (n.1143-1170G>C) c.1143-1G>C (n.1143-1G>C) | |
| 9 | g.99146484G>T | CA374232550 | TGFBR1 | c.924-1G>T (n.924-1G>T) c.936-1G>T (n.936-1G>T) c.*53-1G>T (n.*53-1G>T) c.693-1G>T (n.693-1G>T) c.*927-1G>T (n.*927-1G>T) c.1131-1G>T (n.1131-1G>T) c.900-1G>T (n.900-1G>T) c.1143-1170G>T (n.1143-1170G>T) c.1143-1G>T (n.1143-1G>T) | dbSNP |
| 9 | g.99146485G>A | CA466435238 | TGFBR1 | c.924G>A (p.Arg308=) c.936G>A (p.Arg312=) c.*53G>A (n.*53G>A) c.693G>A (p.Arg231=) c.*927G>A (n.*927G>A) c.1131G>A (p.Arg377=) c.900G>A (p.Arg300=) c.1143-1169G>A (n.1143-1169G>A) c.1143G>A (p.Arg381=) | dbSNP |
| 9 | g.99146485G>C | CA374232556 | TGFBR1 | c.924G>C (p.Arg308Ser) c.936G>C (p.Arg312Ser) c.*53G>C (n.*53G>C) c.693G>C (p.Arg231Ser) c.*927G>C (n.*927G>C) c.1131G>C (p.Arg377Ser) c.900G>C (p.Arg300Ser) c.1143-1169G>C (n.1143-1169G>C) c.1143G>C (p.Arg381Ser) | |
| 9 | g.99146485G>T | CA374232559 | TGFBR1 | c.924G>T (p.Arg308Ser) c.936G>T (p.Arg312Ser) c.*53G>T (n.*53G>T) c.693G>T (p.Arg231Ser) c.*927G>T (n.*927G>T) c.1131G>T (p.Arg377Ser) c.900G>T (p.Arg300Ser) c.1143-1169G>T (n.1143-1169G>T) c.1143G>T (p.Arg381Ser) | |
| 9 | g.99146486T>A | CA374232562 | TGFBR1 | c.925T>A (p.Tyr309Asn) c.937T>A (p.Tyr313Asn) c.*54T>A (n.*54T>A) c.694T>A (p.Tyr232Asn) c.*928T>A (n.*928T>A) c.1132T>A (p.Tyr378Asn) c.901T>A (p.Tyr301Asn) c.1143-1168T>A (n.1143-1168T>A) c.1144T>A (p.Tyr382Asn) | |
| 9 | g.99146486T>C | CA374232566 | TGFBR1 | c.925T>C (p.Tyr309His) c.937T>C (p.Tyr313His) c.*54T>C (n.*54T>C) c.694T>C (p.Tyr232His) c.*928T>C (n.*928T>C) c.1132T>C (p.Tyr378His) c.901T>C (p.Tyr301His) c.1143-1168T>C (n.1143-1168T>C) c.1144T>C (p.Tyr382His) | |
| 9 | g.99146486T>G | CA374232569 | TGFBR1 | c.925T>G (p.Tyr309Asp) c.937T>G (p.Tyr313Asp) c.*54T>G (n.*54T>G) c.694T>G (p.Tyr232Asp) c.*928T>G (n.*928T>G) c.1132T>G (p.Tyr378Asp) c.901T>G (p.Tyr301Asp) c.1143-1168T>G (n.1143-1168T>G) c.1144T>G (p.Tyr382Asp) | |
| 9 | g.99146487A>C | CA374232575 | TGFBR1 | c.926A>C (p.Tyr309Ser) c.938A>C (p.Tyr313Ser) c.*55A>C (n.*55A>C) c.695A>C (p.Tyr232Ser) c.*929A>C (n.*929A>C) c.1133A>C (p.Tyr378Ser) c.902A>C (p.Tyr301Ser) c.1143-1167A>C (n.1143-1167A>C) c.1145A>C (p.Tyr382Ser) | |
| 9 | g.99146487A>G | CA374232571 | TGFBR1 | c.926A>G (p.Tyr309Cys) c.938A>G (p.Tyr313Cys) c.*55A>G (n.*55A>G) c.695A>G (p.Tyr232Cys) c.*929A>G (n.*929A>G) c.1133A>G (p.Tyr378Cys) c.902A>G (p.Tyr301Cys) c.1143-1167A>G (n.1143-1167A>G) c.1145A>G (p.Tyr382Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146487A>T | CA374232573 | TGFBR1 | c.926A>T (p.Tyr309Phe) c.938A>T (p.Tyr313Phe) c.*55A>T (n.*55A>T) c.695A>T (p.Tyr232Phe) c.*929A>T (n.*929A>T) c.1133A>T (p.Tyr378Phe) c.902A>T (p.Tyr301Phe) c.1143-1167A>T (n.1143-1167A>T) c.1145A>T (p.Tyr382Phe) | |
| 9 | g.99146488_99146489del | CA2785270379 | TGFBR1 | c.927_928del (p.Met310GlyfsTer3) c.939_940del (p.Met314GlyfsTer3) c.*56_*57del (n.*56_*57del) c.696_697del (p.Met233GlyfsTer3) c.*930_*931del (n.*930_*931del) c.1134_1135del (p.Met379GlyfsTer3) c.903_904del (p.Met302GlyfsTer3) c.1143-1166_1143-1165del (n.1143-1166_1143-1165del) c.1146_1147del (p.Met383GlyfsTer3) | |
| 9 | g.99146488C>A | CA374232580 | TGFBR1 | c.927C>A (p.Tyr309Ter) c.939C>A (p.Tyr313Ter) c.*56C>A (n.*56C>A) c.696C>A (p.Tyr232Ter) c.*930C>A (n.*930C>A) c.1134C>A (p.Tyr378Ter) c.903C>A (p.Tyr301Ter) c.1143-1166C>A (n.1143-1166C>A) c.1146C>A (p.Tyr382Ter) | |
| 9 | g.99146488C= | CA1867263751 | TGFBR1 | c.927C= (p.Tyr309=) c.939C= (p.Tyr313=) c.*56C= (n.*56C=) c.696C= (p.Tyr232=) c.*930C= (n.*930C=) c.1134C= (p.Tyr378=) c.903C= (p.Tyr301=) c.1143-1166C= (n.1143-1166C=) c.1146C= (p.Tyr382=) | |
| 9 | g.99146488C>G | CA374232581 | TGFBR1 | c.927C>G (p.Tyr309Ter) c.939C>G (p.Tyr313Ter) c.*56C>G (n.*56C>G) c.696C>G (p.Tyr232Ter) c.*930C>G (n.*930C>G) c.1134C>G (p.Tyr378Ter) c.903C>G (p.Tyr301Ter) c.1143-1166C>G (n.1143-1166C>G) c.1146C>G (p.Tyr382Ter) | |
| 9 | g.99146488C>T | CA466435240 | TGFBR1 | c.927C>T (p.Tyr309=) c.939C>T (p.Tyr313=) c.*56C>T (n.*56C>T) c.696C>T (p.Tyr232=) c.*930C>T (n.*930C>T) c.1134C>T (p.Tyr378=) c.903C>T (p.Tyr301=) c.1143-1166C>T (n.1143-1166C>T) c.1146C>T (p.Tyr382=) | ClinVar dbSNP |
| 9 | g.99146489A= | CA1867263755 | TGFBR1 | c.928A= (p.Met310=) c.940A= (p.Met314=) c.*57A= (n.*57A=) c.697A= (p.Met233=) c.*931A= (n.*931A=) c.1135A= (p.Met379=) c.904A= (p.Met302=) c.1143-1165A= (n.1143-1165A=) c.1147A= (p.Met383=) | |
| 9 | g.99146489A>C | CA374232584 | TGFBR1 | c.928A>C (p.Met310Leu) c.940A>C (p.Met314Leu) c.*57A>C (n.*57A>C) c.697A>C (p.Met233Leu) c.*931A>C (n.*931A>C) c.1135A>C (p.Met379Leu) c.904A>C (p.Met302Leu) c.1143-1165A>C (n.1143-1165A>C) c.1147A>C (p.Met383Leu) | |
| 9 | g.99146489A>G | CA374232585 | TGFBR1 | c.928A>G (p.Met310Val) c.940A>G (p.Met314Val) c.*57A>G (n.*57A>G) c.697A>G (p.Met233Val) c.*931A>G (n.*931A>G) c.1135A>G (p.Met379Val) c.904A>G (p.Met302Val) c.1143-1165A>G (n.1143-1165A>G) c.1147A>G (p.Met383Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146489A>T | CA374232587 | TGFBR1 | c.928A>T (p.Met310Leu) c.940A>T (p.Met314Leu) c.*57A>T (n.*57A>T) c.697A>T (p.Met233Leu) c.*931A>T (n.*931A>T) c.1135A>T (p.Met379Leu) c.904A>T (p.Met302Leu) c.1143-1165A>T (n.1143-1165A>T) c.1147A>T (p.Met383Leu) | |
| 9 | g.99146490T>A | CA374232589 | TGFBR1 | c.929T>A (p.Met310Lys) c.941T>A (p.Met314Lys) c.*58T>A (n.*58T>A) c.698T>A (p.Met233Lys) c.*932T>A (n.*932T>A) c.1136T>A (p.Met379Lys) c.905T>A (p.Met302Lys) c.1143-1164T>A (n.1143-1164T>A) c.1148T>A (p.Met383Lys) | |
| 9 | g.99146490T>C | CA10587685 | TGFBR1 | c.929T>C (p.Met310Thr) c.941T>C (p.Met314Thr) c.*58T>C (n.*58T>C) c.698T>C (p.Met233Thr) c.*932T>C (n.*932T>C) c.1136T>C (p.Met379Thr) c.905T>C (p.Met302Thr) c.1143-1164T>C (n.1143-1164T>C) c.1148T>C (p.Met383Thr) | ClinVar dbSNP |
| 9 | g.99146490T>G | CA374232592 | TGFBR1 | c.929T>G (p.Met310Arg) c.941T>G (p.Met314Arg) c.*58T>G (n.*58T>G) c.698T>G (p.Met233Arg) c.*932T>G (n.*932T>G) c.1136T>G (p.Met379Arg) c.905T>G (p.Met302Arg) c.1143-1164T>G (n.1143-1164T>G) c.1148T>G (p.Met383Arg) | |
| 9 | g.99146490T= | CA1867263763 | TGFBR1 | c.929T= (p.Met310=) c.941T= (p.Met314=) c.*58T= (n.*58T=) c.698T= (p.Met233=) c.*932T= (n.*932T=) c.1136T= (p.Met379=) c.905T= (p.Met302=) c.1143-1164T= (n.1143-1164T=) c.1148T= (p.Met383=) | |
| 9 | g.99146491G>A | CA374232595 | TGFBR1 | c.930G>A (p.Met310Ile) c.942G>A (p.Met314Ile) c.*59G>A (n.*59G>A) c.699G>A (p.Met233Ile) c.*933G>A (n.*933G>A) c.1137G>A (p.Met379Ile) c.906G>A (p.Met302Ile) c.1143-1163G>A (n.1143-1163G>A) c.1149G>A (p.Met383Ile) | |
| 9 | g.99146491G>C | CA374232598 | TGFBR1 | c.930G>C (p.Met310Ile) c.942G>C (p.Met314Ile) c.*59G>C (n.*59G>C) c.699G>C (p.Met233Ile) c.*933G>C (n.*933G>C) c.1137G>C (p.Met379Ile) c.906G>C (p.Met302Ile) c.1143-1163G>C (n.1143-1163G>C) c.1149G>C (p.Met383Ile) | |
| 9 | g.99146491G>T | CA374232601 | TGFBR1 | c.930G>T (p.Met310Ile) c.942G>T (p.Met314Ile) c.*59G>T (n.*59G>T) c.699G>T (p.Met233Ile) c.*933G>T (n.*933G>T) c.1137G>T (p.Met379Ile) c.906G>T (p.Met302Ile) c.1143-1163G>T (n.1143-1163G>T) c.1149G>T (p.Met383Ile) | |
| 9 | g.99146492G>A | CA374232609 | TGFBR1 | c.931G>A (p.Ala311Thr) c.943G>A (p.Ala315Thr) c.*60G>A (n.*60G>A) c.700G>A (p.Ala234Thr) c.*934G>A (n.*934G>A) c.1138G>A (p.Ala380Thr) c.907G>A (p.Ala303Thr) c.1143-1162G>A (n.1143-1162G>A) c.1150G>A (p.Ala384Thr) | COSMIC |
| 9 | g.99146492G>C | CA374232606 | TGFBR1 | c.931G>C (p.Ala311Pro) c.943G>C (p.Ala315Pro) c.*60G>C (n.*60G>C) c.700G>C (p.Ala234Pro) c.*934G>C (n.*934G>C) c.1138G>C (p.Ala380Pro) c.907G>C (p.Ala303Pro) c.1143-1162G>C (n.1143-1162G>C) c.1150G>C (p.Ala384Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146492G= | CA1867263769 | TGFBR1 | c.931G= (p.Ala311=) c.943G= (p.Ala315=) c.*60G= (n.*60G=) c.700G= (p.Ala234=) c.*934G= (n.*934G=) c.1138G= (p.Ala380=) c.907G= (p.Ala303=) c.1143-1162G= (n.1143-1162G=) c.1150G= (p.Ala384=) | |
| 9 | g.99146492G>T | CA196894127 | TGFBR1 | c.931G>T (p.Ala311Ser) c.943G>T (p.Ala315Ser) c.*60G>T (n.*60G>T) c.700G>T (p.Ala234Ser) c.*934G>T (n.*934G>T) c.1138G>T (p.Ala380Ser) c.907G>T (p.Ala303Ser) c.1143-1162G>T (n.1143-1162G>T) c.1150G>T (p.Ala384Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146492_99146493delinsTT | CA2580080866 | TGFBR1 | c.931_932delinsTT (p.Ala311Phe) c.943_944delinsTT (p.Ala315Phe) c.*60_*61delinsTT (n.*60_*61delinsTT) c.700_701delinsTT (p.Ala234Phe) c.*934_*935delinsTT (n.*934_*935delinsTT) c.1138_1139delinsTT (p.Ala380Phe) c.907_908delinsTT (p.Ala303Phe) c.1143-1162_1143-1161delinsTT (n.1143-1162_1143-1161delinsTT) c.1150_1151delinsTT (p.Ala384Phe) | ClinVar |
| 9 | g.99146493C>A | CA374232612 | TGFBR1 | c.932C>A (p.Ala311Asp) c.944C>A (p.Ala315Asp) c.*61C>A (n.*61C>A) c.701C>A (p.Ala234Asp) c.*935C>A (n.*935C>A) c.1139C>A (p.Ala380Asp) c.908C>A (p.Ala303Asp) c.1143-1161C>A (n.1143-1161C>A) c.1151C>A (p.Ala384Asp) | gnomAD v4 |
| 9 | g.99146493C= | CA1867263775 | TGFBR1 | c.932C= (p.Ala311=) c.944C= (p.Ala315=) c.*61C= (n.*61C=) c.701C= (p.Ala234=) c.*935C= (n.*935C=) c.1139C= (p.Ala380=) c.908C= (p.Ala303=) c.1143-1161C= (n.1143-1161C=) c.1151C= (p.Ala384=) | |
| 9 | g.99146493C>G | CA044169 | TGFBR1 | c.932C>G (p.Ala311Gly) c.944C>G (p.Ala315Gly) c.*61C>G (n.*61C>G) c.701C>G (p.Ala234Gly) c.*935C>G (n.*935C>G) c.1139C>G (p.Ala380Gly) c.908C>G (p.Ala303Gly) c.1143-1161C>G (n.1143-1161C>G) c.1151C>G (p.Ala384Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146493C>T | CA374232614 | TGFBR1 | c.932C>T (p.Ala311Val) c.944C>T (p.Ala315Val) c.*61C>T (n.*61C>T) c.701C>T (p.Ala234Val) c.*935C>T (n.*935C>T) c.1139C>T (p.Ala380Val) c.908C>T (p.Ala303Val) c.1143-1161C>T (n.1143-1161C>T) c.1151C>T (p.Ala384Val) | |
| 9 | g.99146496dup | CA2580616265 | TGFBR1 | c.935dup (p.Glu313Ter) c.947dup (p.Glu317Ter) c.*64dup (n.*64dup) c.704dup (p.Glu236Ter) c.*938dup (n.*938dup) c.1142dup (p.Glu382Ter) c.911dup (p.Glu305Ter) c.1143-1158dup (n.1143-1158dup) c.1154dup (p.Glu386Ter) | ClinVar |
| 9 | g.99146494C>A | CA466435246 | TGFBR1 | c.933C>A (p.Ala311=) c.945C>A (p.Ala315=) c.*62C>A (n.*62C>A) c.702C>A (p.Ala234=) c.*936C>A (n.*936C>A) c.1140C>A (p.Ala380=) c.909C>A (p.Ala303=) c.1143-1160C>A (n.1143-1160C>A) c.1152C>A (p.Ala384=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146494C= | CA1867263780 | TGFBR1 | c.933C= (p.Ala311=) c.945C= (p.Ala315=) c.*62C= (n.*62C=) c.702C= (p.Ala234=) c.*936C= (n.*936C=) c.1140C= (p.Ala380=) c.909C= (p.Ala303=) c.1143-1160C= (n.1143-1160C=) c.1152C= (p.Ala384=) | |
| 9 | g.99146494C>G | CA466435248 | TGFBR1 | c.933C>G (p.Ala311=) c.945C>G (p.Ala315=) c.*62C>G (n.*62C>G) c.702C>G (p.Ala234=) c.*936C>G (n.*936C>G) c.1140C>G (p.Ala380=) c.909C>G (p.Ala303=) c.1143-1160C>G (n.1143-1160C>G) c.1152C>G (p.Ala384=) | dbSNP |
| 9 | g.99146494C>T | CA466435247 | TGFBR1 | c.933C>T (p.Ala311=) c.945C>T (p.Ala315=) c.*62C>T (n.*62C>T) c.702C>T (p.Ala234=) c.*936C>T (n.*936C>T) c.1140C>T (p.Ala380=) c.909C>T (p.Ala303=) c.1143-1160C>T (n.1143-1160C>T) c.1152C>T (p.Ala384=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146495C>A | CA374232620 | TGFBR1 | c.934C>A (p.Pro312Thr) c.946C>A (p.Pro316Thr) c.*63C>A (n.*63C>A) c.703C>A (p.Pro235Thr) c.*937C>A (n.*937C>A) c.1141C>A (p.Pro381Thr) c.910C>A (p.Pro304Thr) c.1143-1159C>A (n.1143-1159C>A) c.1153C>A (p.Pro385Thr) | |
| 9 | g.99146495C= | CA1867263786 | TGFBR1 | c.934C= (p.Pro312=) c.946C= (p.Pro316=) c.*63C= (n.*63C=) c.703C= (p.Pro235=) c.*937C= (n.*937C=) c.1141C= (p.Pro381=) c.910C= (p.Pro304=) c.1143-1159C= (n.1143-1159C=) c.1153C= (p.Pro385=) | |
| 9 | g.99146495C>G | CA374232631 | TGFBR1 | c.934C>G (p.Pro312Ala) c.946C>G (p.Pro316Ala) c.*63C>G (n.*63C>G) c.703C>G (p.Pro235Ala) c.*937C>G (n.*937C>G) c.1141C>G (p.Pro381Ala) c.910C>G (p.Pro304Ala) c.1143-1159C>G (n.1143-1159C>G) c.1153C>G (p.Pro385Ala) | |
| 9 | g.99146495C>T | CA044182 | TGFBR1 | c.934C>T (p.Pro312Ser) c.946C>T (p.Pro316Ser) c.*63C>T (n.*63C>T) c.703C>T (p.Pro235Ser) c.*937C>T (n.*937C>T) c.1141C>T (p.Pro381Ser) c.910C>T (p.Pro304Ser) c.1143-1159C>T (n.1143-1159C>T) c.1153C>T (p.Pro385Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146496C>A | CA374232635 | TGFBR1 | c.935C>A (p.Pro312His) c.947C>A (p.Pro316His) c.*64C>A (n.*64C>A) c.704C>A (p.Pro235His) c.*938C>A (n.*938C>A) c.1142C>A (p.Pro381His) c.911C>A (p.Pro304His) c.1143-1158C>A (n.1143-1158C>A) c.1154C>A (p.Pro385His) | |
| 9 | g.99146496C>G | CA374232637 | TGFBR1 | c.935C>G (p.Pro312Arg) c.947C>G (p.Pro316Arg) c.*64C>G (n.*64C>G) c.704C>G (p.Pro235Arg) c.*938C>G (n.*938C>G) c.1142C>G (p.Pro381Arg) c.911C>G (p.Pro304Arg) c.1143-1158C>G (n.1143-1158C>G) c.1154C>G (p.Pro385Arg) | dbSNP |
| 9 | g.99146496C>T | CA374232640 | TGFBR1 | c.935C>T (p.Pro312Leu) c.947C>T (p.Pro316Leu) c.*64C>T (n.*64C>T) c.704C>T (p.Pro235Leu) c.*938C>T (n.*938C>T) c.1142C>T (p.Pro381Leu) c.911C>T (p.Pro304Leu) c.1143-1158C>T (n.1143-1158C>T) c.1154C>T (p.Pro385Leu) | dbSNP |
| 9 | g.99146497del | CA2690966509 | TGFBR1 | c.936del (p.Glu313LysfsTer7) c.948del (p.Glu317LysfsTer7) c.*65del (n.*65del) c.705del (p.Glu236LysfsTer7) c.*939del (n.*939del) c.1143del (p.Glu382LysfsTer7) c.912del (p.Glu305LysfsTer7) c.1143-1157del (n.1143-1157del) c.1155del (p.Glu386LysfsTer7) | gnomAD v4 |
| 9 | g.99146497T>A | CA466435250 | TGFBR1 | c.936T>A (p.Pro312=) c.948T>A (p.Pro316=) c.*65T>A (n.*65T>A) c.705T>A (p.Pro235=) c.*939T>A (n.*939T>A) c.1143T>A (p.Pro381=) c.912T>A (p.Pro304=) c.1143-1157T>A (n.1143-1157T>A) c.1155T>A (p.Pro385=) | |
| 9 | g.99146497T>C | CA466435251 | TGFBR1 | c.936T>C (p.Pro312=) c.948T>C (p.Pro316=) c.*65T>C (n.*65T>C) c.705T>C (p.Pro235=) c.*939T>C (n.*939T>C) c.1143T>C (p.Pro381=) c.912T>C (p.Pro304=) c.1143-1157T>C (n.1143-1157T>C) c.1155T>C (p.Pro385=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146497T>G | CA466435252 | TGFBR1 | c.936T>G (p.Pro312=) c.948T>G (p.Pro316=) c.*65T>G (n.*65T>G) c.705T>G (p.Pro235=) c.*939T>G (n.*939T>G) c.1143T>G (p.Pro381=) c.912T>G (p.Pro304=) c.1143-1157T>G (n.1143-1157T>G) c.1155T>G (p.Pro385=) | |
| 9 | g.99146498G>A | CA320850 | TGFBR1 | c.937G>A (p.Glu313Lys) c.949G>A (p.Glu317Lys) c.*66G>A (n.*66G>A) c.706G>A (p.Glu236Lys) c.*940G>A (n.*940G>A) c.1144G>A (p.Glu382Lys) c.913G>A (p.Glu305Lys) c.1143-1156G>A (n.1143-1156G>A) c.1156G>A (p.Glu386Lys) | ClinVar dbSNP |
| 9 | g.99146498G>C | CA374232646 | TGFBR1 | c.937G>C (p.Glu313Gln) c.949G>C (p.Glu317Gln) c.*66G>C (n.*66G>C) c.706G>C (p.Glu236Gln) c.*940G>C (n.*940G>C) c.1144G>C (p.Glu382Gln) c.913G>C (p.Glu305Gln) c.1143-1156G>C (n.1143-1156G>C) c.1156G>C (p.Glu386Gln) | |
| 9 | g.99146498G= | CA1867263793 | TGFBR1 | c.937G= (p.Glu313=) c.949G= (p.Glu317=) c.*66G= (n.*66G=) c.706G= (p.Glu236=) c.*940G= (n.*940G=) c.1144G= (p.Glu382=) c.913G= (p.Glu305=) c.1143-1156G= (n.1143-1156G=) c.1156G= (p.Glu386=) | |
| 9 | g.99146498G>T | CA374232648 | TGFBR1 | c.937G>T (p.Glu313Ter) c.949G>T (p.Glu317Ter) c.*66G>T (n.*66G>T) c.706G>T (p.Glu236Ter) c.*940G>T (n.*940G>T) c.1144G>T (p.Glu382Ter) c.913G>T (p.Glu305Ter) c.1143-1156G>T (n.1143-1156G>T) c.1156G>T (p.Glu386Ter) | |
| 9 | g.99146499A>C | CA374232649 | TGFBR1 | c.938A>C (p.Glu313Ala) c.950A>C (p.Glu317Ala) c.*67A>C (n.*67A>C) c.707A>C (p.Glu236Ala) c.*941A>C (n.*941A>C) c.1145A>C (p.Glu382Ala) c.914A>C (p.Glu305Ala) c.1143-1155A>C (n.1143-1155A>C) c.1157A>C (p.Glu386Ala) | |
| 9 | g.99146499A>G | CA374232652 | TGFBR1 | c.938A>G (p.Glu313Gly) c.950A>G (p.Glu317Gly) c.*67A>G (n.*67A>G) c.707A>G (p.Glu236Gly) c.*941A>G (n.*941A>G) c.1145A>G (p.Glu382Gly) c.914A>G (p.Glu305Gly) c.1143-1155A>G (n.1143-1155A>G) c.1157A>G (p.Glu386Gly) | |
| 9 | g.99146499A>T | CA374232658 | TGFBR1 | c.938A>T (p.Glu313Val) c.950A>T (p.Glu317Val) c.*67A>T (n.*67A>T) c.707A>T (p.Glu236Val) c.*941A>T (n.*941A>T) c.1145A>T (p.Glu382Val) c.914A>T (p.Glu305Val) c.1143-1155A>T (n.1143-1155A>T) c.1157A>T (p.Glu386Val) | |
| 9 | g.99146500A>C | CA374232660 | TGFBR1 | c.939A>C (p.Glu313Asp) c.951A>C (p.Glu317Asp) c.*68A>C (n.*68A>C) c.708A>C (p.Glu236Asp) c.*942A>C (n.*942A>C) c.1146A>C (p.Glu382Asp) c.915A>C (p.Glu305Asp) c.1143-1154A>C (n.1143-1154A>C) c.1158A>C (p.Glu386Asp) | |
| 9 | g.99146500A>G | CA466435256 | TGFBR1 | c.939A>G (p.Glu313=) c.951A>G (p.Glu317=) c.*68A>G (n.*68A>G) c.708A>G (p.Glu236=) c.*942A>G (n.*942A>G) c.1146A>G (p.Glu382=) c.915A>G (p.Glu305=) c.1143-1154A>G (n.1143-1154A>G) c.1158A>G (p.Glu386=) | |
| 9 | g.99146500A>T | CA374232663 | TGFBR1 | c.939A>T (p.Glu313Asp) c.951A>T (p.Glu317Asp) c.*68A>T (n.*68A>T) c.708A>T (p.Glu236Asp) c.*942A>T (n.*942A>T) c.1146A>T (p.Glu382Asp) c.915A>T (p.Glu305Asp) c.1143-1154A>T (n.1143-1154A>T) c.1158A>T (p.Glu386Asp) | |
| 9 | g.99146501G>A | CA374232666 | TGFBR1 | c.940G>A (p.Val314Ile) c.952G>A (p.Val318Ile) c.*69G>A (n.*69G>A) c.709G>A (p.Val237Ile) c.*943G>A (n.*943G>A) c.1147G>A (p.Val383Ile) c.916G>A (p.Val306Ile) c.1143-1153G>A (n.1143-1153G>A) c.1159G>A (p.Val387Ile) | |
| 9 | g.99146501G>C | CA374232667 | TGFBR1 | c.940G>C (p.Val314Leu) c.952G>C (p.Val318Leu) c.*69G>C (n.*69G>C) c.709G>C (p.Val237Leu) c.*943G>C (n.*943G>C) c.1147G>C (p.Val383Leu) c.916G>C (p.Val306Leu) c.1143-1153G>C (n.1143-1153G>C) c.1159G>C (p.Val387Leu) | |
| 9 | g.99146501G>T | CA374232671 | TGFBR1 | c.940G>T (p.Val314Phe) c.952G>T (p.Val318Phe) c.*69G>T (n.*69G>T) c.709G>T (p.Val237Phe) c.*943G>T (n.*943G>T) c.1147G>T (p.Val383Phe) c.916G>T (p.Val306Phe) c.1143-1153G>T (n.1143-1153G>T) c.1159G>T (p.Val387Phe) | |
| 9 | g.99146502T>A | CA374232674 | TGFBR1 | c.941T>A (p.Val314Asp) c.953T>A (p.Val318Asp) c.*70T>A (n.*70T>A) c.710T>A (p.Val237Asp) c.*944T>A (n.*944T>A) c.1148T>A (p.Val383Asp) c.917T>A (p.Val306Asp) c.1143-1152T>A (n.1143-1152T>A) c.1160T>A (p.Val387Asp) | |
| 9 | g.99146502T>C | CA374232677 | TGFBR1 | c.941T>C (p.Val314Ala) c.953T>C (p.Val318Ala) c.*70T>C (n.*70T>C) c.710T>C (p.Val237Ala) c.*944T>C (n.*944T>C) c.1148T>C (p.Val383Ala) c.917T>C (p.Val306Ala) c.1143-1152T>C (n.1143-1152T>C) c.1160T>C (p.Val387Ala) | dbSNP gnomAD v4 |
| 9 | g.99146502T>G | CA374232681 | TGFBR1 | c.941T>G (p.Val314Gly) c.953T>G (p.Val318Gly) c.*70T>G (n.*70T>G) c.710T>G (p.Val237Gly) c.*944T>G (n.*944T>G) c.1148T>G (p.Val383Gly) c.917T>G (p.Val306Gly) c.1143-1152T>G (n.1143-1152T>G) c.1160T>G (p.Val387Gly) | |
| 9 | g.99146502T= | CA1867263797 | TGFBR1 | c.941T= (p.Val314=) c.953T= (p.Val318=) c.*70T= (n.*70T=) c.710T= (p.Val237=) c.*944T= (n.*944T=) c.1148T= (p.Val383=) c.917T= (p.Val306=) c.1143-1152T= (n.1143-1152T=) c.1160T= (p.Val387=) | |
| 9 | g.99146503T>A | CA466435261 | TGFBR1 | c.942T>A (p.Val314=) c.954T>A (p.Val318=) c.*71T>A (n.*71T>A) c.711T>A (p.Val237=) c.*945T>A (n.*945T>A) c.1149T>A (p.Val383=) c.918T>A (p.Val306=) c.1143-1151T>A (n.1143-1151T>A) c.1161T>A (p.Val387=) | |
| 9 | g.99146503T>C | CA466435259 | TGFBR1 | c.942T>C (p.Val314=) c.954T>C (p.Val318=) c.*71T>C (n.*71T>C) c.711T>C (p.Val237=) c.*945T>C (n.*945T>C) c.1149T>C (p.Val383=) c.918T>C (p.Val306=) c.1143-1151T>C (n.1143-1151T>C) c.1161T>C (p.Val387=) | |
| 9 | g.99146503T>G | CA466435260 | TGFBR1 | c.942T>G (p.Val314=) c.954T>G (p.Val318=) c.*71T>G (n.*71T>G) c.711T>G (p.Val237=) c.*945T>G (n.*945T>G) c.1149T>G (p.Val383=) c.918T>G (p.Val306=) c.1143-1151T>G (n.1143-1151T>G) c.1161T>G (p.Val387=) | |
| 9 | g.99146504C>A | CA374232685 | TGFBR1 | c.943C>A (p.Leu315Ile) c.955C>A (p.Leu319Ile) c.*72C>A (n.*72C>A) c.712C>A (p.Leu238Ile) c.*946C>A (n.*946C>A) c.1150C>A (p.Leu384Ile) c.919C>A (p.Leu307Ile) c.1143-1150C>A (n.1143-1150C>A) c.1162C>A (p.Leu388Ile) | |
| 9 | g.99146504C>G | CA374232687 | TGFBR1 | c.943C>G (p.Leu315Val) c.955C>G (p.Leu319Val) c.*72C>G (n.*72C>G) c.712C>G (p.Leu238Val) c.*946C>G (n.*946C>G) c.1150C>G (p.Leu384Val) c.919C>G (p.Leu307Val) c.1143-1150C>G (n.1143-1150C>G) c.1162C>G (p.Leu388Val) | |
| 9 | g.99146504C>T | CA374232690 | TGFBR1 | c.943C>T (p.Leu315Phe) c.955C>T (p.Leu319Phe) c.*72C>T (n.*72C>T) c.712C>T (p.Leu238Phe) c.*946C>T (n.*946C>T) c.1150C>T (p.Leu384Phe) c.919C>T (p.Leu307Phe) c.1143-1150C>T (n.1143-1150C>T) c.1162C>T (p.Leu388Phe) | |
| 9 | g.99146505T>A | CA374232693 | TGFBR1 | c.944T>A (p.Leu315His) c.956T>A (p.Leu319His) c.*73T>A (n.*73T>A) c.713T>A (p.Leu238His) c.*947T>A (n.*947T>A) c.1151T>A (p.Leu384His) c.920T>A (p.Leu307His) c.1143-1149T>A (n.1143-1149T>A) c.1163T>A (p.Leu388His) | |
| 9 | g.99146505T>C | CA374232696 | TGFBR1 | c.944T>C (p.Leu315Pro) c.956T>C (p.Leu319Pro) c.*73T>C (n.*73T>C) c.713T>C (p.Leu238Pro) c.*947T>C (n.*947T>C) c.1151T>C (p.Leu384Pro) c.920T>C (p.Leu307Pro) c.1143-1149T>C (n.1143-1149T>C) c.1163T>C (p.Leu388Pro) | |
| 9 | g.99146505T>G | CA374232700 | TGFBR1 | c.944T>G (p.Leu315Arg) c.956T>G (p.Leu319Arg) c.*73T>G (n.*73T>G) c.713T>G (p.Leu238Arg) c.*947T>G (n.*947T>G) c.1151T>G (p.Leu384Arg) c.920T>G (p.Leu307Arg) c.1143-1149T>G (n.1143-1149T>G) c.1163T>G (p.Leu388Arg) | |
| 9 | g.99146506C>A | CA466435266 | TGFBR1 | c.945C>A (p.Leu315=) c.957C>A (p.Leu319=) c.*74C>A (n.*74C>A) c.714C>A (p.Leu238=) c.*948C>A (n.*948C>A) c.1152C>A (p.Leu384=) c.921C>A (p.Leu307=) c.1143-1148C>A (n.1143-1148C>A) c.1164C>A (p.Leu388=) | |
| 9 | g.99146506C= | CA1867263803 | TGFBR1 | c.945C= (p.Leu315=) c.957C= (p.Leu319=) c.*74C= (n.*74C=) c.714C= (p.Leu238=) c.*948C= (n.*948C=) c.1152C= (p.Leu384=) c.921C= (p.Leu307=) c.1143-1148C= (n.1143-1148C=) c.1164C= (p.Leu388=) | |
| 9 | g.99146506C>G | CA466435267 | TGFBR1 | c.945C>G (p.Leu315=) c.957C>G (p.Leu319=) c.*74C>G (n.*74C>G) c.714C>G (p.Leu238=) c.*948C>G (n.*948C>G) c.1152C>G (p.Leu384=) c.921C>G (p.Leu307=) c.1143-1148C>G (n.1143-1148C>G) c.1164C>G (p.Leu388=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99146506C>T | CA008710 | TGFBR1 | c.945C>T (p.Leu315=) c.957C>T (p.Leu319=) c.*74C>T (n.*74C>T) c.714C>T (p.Leu238=) c.*948C>T (n.*948C>T) c.1152C>T (p.Leu384=) c.921C>T (p.Leu307=) c.1143-1148C>T (n.1143-1148C>T) c.1164C>T (p.Leu388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146507G>A | CA374232705 | TGFBR1 | c.946G>A (p.Asp316Asn) c.958G>A (p.Asp320Asn) c.*75G>A (n.*75G>A) c.715G>A (p.Asp239Asn) c.*949G>A (n.*949G>A) c.1153G>A (p.Asp385Asn) c.922G>A (p.Asp308Asn) c.1143-1147G>A (n.1143-1147G>A) c.1165G>A (p.Asp389Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146507G>C | CA374232709 | TGFBR1 | c.946G>C (p.Asp316His) c.958G>C (p.Asp320His) c.*75G>C (n.*75G>C) c.715G>C (p.Asp239His) c.*949G>C (n.*949G>C) c.1153G>C (p.Asp385His) c.922G>C (p.Asp308His) c.1143-1147G>C (n.1143-1147G>C) c.1165G>C (p.Asp389His) | |
| 9 | g.99146507G= | CA1867263808 | TGFBR1 | c.946G= (p.Asp316=) c.958G= (p.Asp320=) c.*75G= (n.*75G=) c.715G= (p.Asp239=) c.*949G= (n.*949G=) c.1153G= (p.Asp385=) c.922G= (p.Asp308=) c.1143-1147G= (n.1143-1147G=) c.1165G= (p.Asp389=) | |
| 9 | g.99146507G>T | CA374232708 | TGFBR1 | c.946G>T (p.Asp316Tyr) c.958G>T (p.Asp320Tyr) c.*75G>T (n.*75G>T) c.715G>T (p.Asp239Tyr) c.*949G>T (n.*949G>T) c.1153G>T (p.Asp385Tyr) c.922G>T (p.Asp308Tyr) c.1143-1147G>T (n.1143-1147G>T) c.1165G>T (p.Asp389Tyr) | |
| 9 | g.99146508A>C | CA374232712 | TGFBR1 | c.947A>C (p.Asp316Ala) c.959A>C (p.Asp320Ala) c.*76A>C (n.*76A>C) c.716A>C (p.Asp239Ala) c.*950A>C (n.*950A>C) c.1154A>C (p.Asp385Ala) c.923A>C (p.Asp308Ala) c.1143-1146A>C (n.1143-1146A>C) c.1166A>C (p.Asp389Ala) | |
| 9 | g.99146508A>G | CA374232715 | TGFBR1 | c.947A>G (p.Asp316Gly) c.959A>G (p.Asp320Gly) c.*76A>G (n.*76A>G) c.716A>G (p.Asp239Gly) c.*950A>G (n.*950A>G) c.1154A>G (p.Asp385Gly) c.923A>G (p.Asp308Gly) c.1143-1146A>G (n.1143-1146A>G) c.1166A>G (p.Asp389Gly) | gnomAD v4 |
| 9 | g.99146508A>T | CA374232717 | TGFBR1 | c.947A>T (p.Asp316Val) c.959A>T (p.Asp320Val) c.*76A>T (n.*76A>T) c.716A>T (p.Asp239Val) c.*950A>T (n.*950A>T) c.1154A>T (p.Asp385Val) c.923A>T (p.Asp308Val) c.1143-1146A>T (n.1143-1146A>T) c.1166A>T (p.Asp389Val) | |
| 9 | g.99146509T>A | CA374232719 | TGFBR1 | c.948T>A (p.Asp316Glu) c.960T>A (p.Asp320Glu) c.*77T>A (n.*77T>A) c.717T>A (p.Asp239Glu) c.*951T>A (n.*951T>A) c.1155T>A (p.Asp385Glu) c.924T>A (p.Asp308Glu) c.1143-1145T>A (n.1143-1145T>A) c.1167T>A (p.Asp389Glu) | |
| 9 | g.99146509T>C | CA466435270 | TGFBR1 | c.948T>C (p.Asp316=) c.960T>C (p.Asp320=) c.*77T>C (n.*77T>C) c.717T>C (p.Asp239=) c.*951T>C (n.*951T>C) c.1155T>C (p.Asp385=) c.924T>C (p.Asp308=) c.1143-1145T>C (n.1143-1145T>C) c.1167T>C (p.Asp389=) | |
| 9 | g.99146509T>G | CA374232721 | TGFBR1 | c.948T>G (p.Asp316Glu) c.960T>G (p.Asp320Glu) c.*77T>G (n.*77T>G) c.717T>G (p.Asp239Glu) c.*951T>G (n.*951T>G) c.1155T>G (p.Asp385Glu) c.924T>G (p.Asp308Glu) c.1143-1145T>G (n.1143-1145T>G) c.1167T>G (p.Asp389Glu) | |
| 9 | g.99146510G>A | CA374232722 | TGFBR1 | c.949G>A (p.Asp317Asn) c.961G>A (p.Asp321Asn) c.*78G>A (n.*78G>A) c.718G>A (p.Asp240Asn) c.*952G>A (n.*952G>A) c.1156G>A (p.Asp386Asn) c.925G>A (p.Asp309Asn) c.1143-1144G>A (n.1143-1144G>A) c.1168G>A (p.Asp390Asn) | |
| 9 | g.99146510G>C | CA374232723 | TGFBR1 | c.949G>C (p.Asp317His) c.961G>C (p.Asp321His) c.*78G>C (n.*78G>C) c.718G>C (p.Asp240His) c.*952G>C (n.*952G>C) c.1156G>C (p.Asp386His) c.925G>C (p.Asp309His) c.1143-1144G>C (n.1143-1144G>C) c.1168G>C (p.Asp390His) | |
| 9 | g.99146510G>T | CA374232725 | TGFBR1 | c.949G>T (p.Asp317Tyr) c.961G>T (p.Asp321Tyr) c.*78G>T (n.*78G>T) c.718G>T (p.Asp240Tyr) c.*952G>T (n.*952G>T) c.1156G>T (p.Asp386Tyr) c.925G>T (p.Asp309Tyr) c.1143-1144G>T (n.1143-1144G>T) c.1168G>T (p.Asp390Tyr) | |
| 9 | g.99146511A= | CA1867263811 | TGFBR1 | c.950A= (p.Asp317=) c.962A= (p.Asp321=) c.*79A= (n.*79A=) c.719A= (p.Asp240=) c.*953A= (n.*953A=) c.1157A= (p.Asp386=) c.926A= (p.Asp309=) c.1143-1143A= (n.1143-1143A=) c.1169A= (p.Asp390=) | |
| 9 | g.99146511A>C | CA374232731 | TGFBR1 | c.950A>C (p.Asp317Ala) c.962A>C (p.Asp321Ala) c.*79A>C (n.*79A>C) c.719A>C (p.Asp240Ala) c.*953A>C (n.*953A>C) c.1157A>C (p.Asp386Ala) c.926A>C (p.Asp309Ala) c.1143-1143A>C (n.1143-1143A>C) c.1169A>C (p.Asp390Ala) | |
| 9 | g.99146511A>G | CA374232732 | TGFBR1 | c.950A>G (p.Asp317Gly) c.962A>G (p.Asp321Gly) c.*79A>G (n.*79A>G) c.719A>G (p.Asp240Gly) c.*953A>G (n.*953A>G) c.1157A>G (p.Asp386Gly) c.926A>G (p.Asp309Gly) c.1143-1143A>G (n.1143-1143A>G) c.1169A>G (p.Asp390Gly) | ClinVar dbSNP |
| 9 | g.99146511A>T | CA374232733 | TGFBR1 | c.950A>T (p.Asp317Val) c.962A>T (p.Asp321Val) c.*79A>T (n.*79A>T) c.719A>T (p.Asp240Val) c.*953A>T (n.*953A>T) c.1157A>T (p.Asp386Val) c.926A>T (p.Asp309Val) c.1143-1143A>T (n.1143-1143A>T) c.1169A>T (p.Asp390Val) | |
| 9 | g.99146512T>A | CA374232735 | TGFBR1 | c.951T>A (p.Asp317Glu) c.963T>A (p.Asp321Glu) c.*80T>A (n.*80T>A) c.720T>A (p.Asp240Glu) c.*954T>A (n.*954T>A) c.1158T>A (p.Asp386Glu) c.927T>A (p.Asp309Glu) c.1143-1142T>A (n.1143-1142T>A) c.1170T>A (p.Asp390Glu) | |
| 9 | g.99146512T>C | CA466435275 | TGFBR1 | c.951T>C (p.Asp317=) c.963T>C (p.Asp321=) c.*80T>C (n.*80T>C) c.720T>C (p.Asp240=) c.*954T>C (n.*954T>C) c.1158T>C (p.Asp386=) c.927T>C (p.Asp309=) c.1143-1142T>C (n.1143-1142T>C) c.1170T>C (p.Asp390=) | |
| 9 | g.99146512T>G | CA374232737 | TGFBR1 | c.951T>G (p.Asp317Glu) c.963T>G (p.Asp321Glu) c.*80T>G (n.*80T>G) c.720T>G (p.Asp240Glu) c.*954T>G (n.*954T>G) c.1158T>G (p.Asp386Glu) c.927T>G (p.Asp309Glu) c.1143-1142T>G (n.1143-1142T>G) c.1170T>G (p.Asp390Glu) | |
| 9 | g.99146513T>A | CA374232739 | TGFBR1 | c.952T>A (p.Ser318Thr) c.964T>A (p.Ser322Thr) c.*81T>A (n.*81T>A) c.721T>A (p.Ser241Thr) c.*955T>A (n.*955T>A) c.1159T>A (p.Ser387Thr) c.928T>A (p.Ser310Thr) c.1143-1141T>A (n.1143-1141T>A) c.1171T>A (p.Ser391Thr) | |
| 9 | g.99146513T>C | CA374232743 | TGFBR1 | c.952T>C (p.Ser318Pro) c.964T>C (p.Ser322Pro) c.*81T>C (n.*81T>C) c.721T>C (p.Ser241Pro) c.*955T>C (n.*955T>C) c.1159T>C (p.Ser387Pro) c.928T>C (p.Ser310Pro) c.1143-1141T>C (n.1143-1141T>C) c.1171T>C (p.Ser391Pro) | |
| 9 | g.99146513T>G | CA374232741 | TGFBR1 | c.952T>G (p.Ser318Ala) c.964T>G (p.Ser322Ala) c.*81T>G (n.*81T>G) c.721T>G (p.Ser241Ala) c.*955T>G (n.*955T>G) c.1159T>G (p.Ser387Ala) c.928T>G (p.Ser310Ala) c.1143-1141T>G (n.1143-1141T>G) c.1171T>G (p.Ser391Ala) | |
| 9 | g.99146514C>A | CA374232744 | TGFBR1 | c.953C>A (p.Ser318Tyr) c.965C>A (p.Ser322Tyr) c.*82C>A (n.*82C>A) c.722C>A (p.Ser241Tyr) c.*956C>A (n.*956C>A) c.1160C>A (p.Ser387Tyr) c.929C>A (p.Ser310Tyr) c.1143-1140C>A (n.1143-1140C>A) c.1172C>A (p.Ser391Tyr) | dbSNP |
| 9 | g.99146514C>G | CA374232746 | TGFBR1 | c.953C>G (p.Ser318Cys) c.965C>G (p.Ser322Cys) c.*82C>G (n.*82C>G) c.722C>G (p.Ser241Cys) c.*956C>G (n.*956C>G) c.1160C>G (p.Ser387Cys) c.929C>G (p.Ser310Cys) c.1143-1140C>G (n.1143-1140C>G) c.1172C>G (p.Ser391Cys) | dbSNP |
| 9 | g.99146514C>T | CA374232757 | TGFBR1 | c.953C>T (p.Ser318Phe) c.965C>T (p.Ser322Phe) c.*82C>T (n.*82C>T) c.722C>T (p.Ser241Phe) c.*956C>T (n.*956C>T) c.1160C>T (p.Ser387Phe) c.929C>T (p.Ser310Phe) c.1143-1140C>T (n.1143-1140C>T) c.1172C>T (p.Ser391Phe) | |
| 9 | g.99146515C>A | CA466435280 | TGFBR1 | c.954C>A (p.Ser318=) c.966C>A (p.Ser322=) c.*83C>A (n.*83C>A) c.723C>A (p.Ser241=) c.*957C>A (n.*957C>A) c.1161C>A (p.Ser387=) c.930C>A (p.Ser310=) c.1143-1139C>A (n.1143-1139C>A) c.1173C>A (p.Ser391=) | |
| 9 | g.99146515C= | CA1867263816 | TGFBR1 | c.954C= (p.Ser318=) c.966C= (p.Ser322=) c.*83C= (n.*83C=) c.723C= (p.Ser241=) c.*957C= (n.*957C=) c.1161C= (p.Ser387=) c.930C= (p.Ser310=) c.1143-1139C= (n.1143-1139C=) c.1173C= (p.Ser391=) | |
| 9 | g.99146515C>G | CA466435281 | TGFBR1 | c.954C>G (p.Ser318=) c.966C>G (p.Ser322=) c.*83C>G (n.*83C>G) c.723C>G (p.Ser241=) c.*957C>G (n.*957C>G) c.1161C>G (p.Ser387=) c.930C>G (p.Ser310=) c.1143-1139C>G (n.1143-1139C>G) c.1173C>G (p.Ser391=) | |
| 9 | g.99146515C>T | CA044208 | TGFBR1 | c.954C>T (p.Ser318=) c.966C>T (p.Ser322=) c.*83C>T (n.*83C>T) c.723C>T (p.Ser241=) c.*957C>T (n.*957C>T) c.1161C>T (p.Ser387=) c.930C>T (p.Ser310=) c.1143-1139C>T (n.1143-1139C>T) c.1173C>T (p.Ser391=) | dbSNP ExAC gnomAD v4 |
| 9 | g.99146516A>C | CA374232758 | TGFBR1 | c.955A>C (p.Ile319Leu) c.967A>C (p.Ile323Leu) c.*84A>C (n.*84A>C) c.724A>C (p.Ile242Leu) c.*958A>C (n.*958A>C) c.1162A>C (p.Ile388Leu) c.931A>C (p.Ile311Leu) c.1143-1138A>C (n.1143-1138A>C) c.1174A>C (p.Ile392Leu) | |
| 9 | g.99146516A>G | CA374232759 | TGFBR1 | c.955A>G (p.Ile319Val) c.967A>G (p.Ile323Val) c.*84A>G (n.*84A>G) c.724A>G (p.Ile242Val) c.*958A>G (n.*958A>G) c.1162A>G (p.Ile388Val) c.931A>G (p.Ile311Val) c.1143-1138A>G (n.1143-1138A>G) c.1174A>G (p.Ile392Val) | |
| 9 | g.99146516A>T | CA374232760 | TGFBR1 | c.955A>T (p.Ile319Leu) c.967A>T (p.Ile323Leu) c.*84A>T (n.*84A>T) c.724A>T (p.Ile242Leu) c.*958A>T (n.*958A>T) c.1162A>T (p.Ile388Leu) c.931A>T (p.Ile311Leu) c.1143-1138A>T (n.1143-1138A>T) c.1174A>T (p.Ile392Leu) | |
| 9 | g.99146517T>A | CA374232761 | TGFBR1 | c.956T>A (p.Ile319Lys) c.968T>A (p.Ile323Lys) c.*85T>A (n.*85T>A) c.725T>A (p.Ile242Lys) c.*959T>A (n.*959T>A) c.1163T>A (p.Ile388Lys) c.932T>A (p.Ile311Lys) c.1143-1137T>A (n.1143-1137T>A) c.1175T>A (p.Ile392Lys) | |
| 9 | g.99146517T>C | CA374232762 | TGFBR1 | c.956T>C (p.Ile319Thr) c.968T>C (p.Ile323Thr) c.*85T>C (n.*85T>C) c.725T>C (p.Ile242Thr) c.*959T>C (n.*959T>C) c.1163T>C (p.Ile388Thr) c.932T>C (p.Ile311Thr) c.1143-1137T>C (n.1143-1137T>C) c.1175T>C (p.Ile392Thr) | gnomAD v4 |
| 9 | g.99146517T>G | CA374232763 | TGFBR1 | c.956T>G (p.Ile319Arg) c.968T>G (p.Ile323Arg) c.*85T>G (n.*85T>G) c.725T>G (p.Ile242Arg) c.*959T>G (n.*959T>G) c.1163T>G (p.Ile388Arg) c.932T>G (p.Ile311Arg) c.1143-1137T>G (n.1143-1137T>G) c.1175T>G (p.Ile392Arg) | |
| 9 | g.99146518A>C | CA466435283 | TGFBR1 | c.957A>C (p.Ile319=) c.969A>C (p.Ile323=) c.*86A>C (n.*86A>C) c.726A>C (p.Ile242=) c.*960A>C (n.*960A>C) c.1164A>C (p.Ile388=) c.933A>C (p.Ile311=) c.1143-1136A>C (n.1143-1136A>C) c.1176A>C (p.Ile392=) | |
| 9 | g.99146518A>G | CA374232765 | TGFBR1 | c.957A>G (p.Ile319Met) c.969A>G (p.Ile323Met) c.*86A>G (n.*86A>G) c.726A>G (p.Ile242Met) c.*960A>G (n.*960A>G) c.1164A>G (p.Ile388Met) c.933A>G (p.Ile311Met) c.1143-1136A>G (n.1143-1136A>G) c.1176A>G (p.Ile392Met) | |
| 9 | g.99146518A>T | CA466435287 | TGFBR1 | c.957A>T (p.Ile319=) c.969A>T (p.Ile323=) c.*86A>T (n.*86A>T) c.726A>T (p.Ile242=) c.*960A>T (n.*960A>T) c.1164A>T (p.Ile388=) c.933A>T (p.Ile311=) c.1143-1136A>T (n.1143-1136A>T) c.1176A>T (p.Ile392=) | |
| 9 | g.99146519A>C | CA374232769 | TGFBR1 | c.958A>C (p.Asn320His) c.970A>C (p.Asn324His) c.*87A>C (n.*87A>C) c.727A>C (p.Asn243His) c.*961A>C (n.*961A>C) c.1165A>C (p.Asn389His) c.934A>C (p.Asn312His) c.1143-1135A>C (n.1143-1135A>C) c.1177A>C (p.Asn393His) | |
| 9 | g.99146519A>G | CA374232771 | TGFBR1 | c.958A>G (p.Asn320Asp) c.970A>G (p.Asn324Asp) c.*87A>G (n.*87A>G) c.727A>G (p.Asn243Asp) c.*961A>G (n.*961A>G) c.1165A>G (p.Asn389Asp) c.934A>G (p.Asn312Asp) c.1143-1135A>G (n.1143-1135A>G) c.1177A>G (p.Asn393Asp) | ClinVar |
| 9 | g.99146519A>T | CA374232767 | TGFBR1 | c.958A>T (p.Asn320Tyr) c.970A>T (p.Asn324Tyr) c.*87A>T (n.*87A>T) c.727A>T (p.Asn243Tyr) c.*961A>T (n.*961A>T) c.1165A>T (p.Asn389Tyr) c.934A>T (p.Asn312Tyr) c.1143-1135A>T (n.1143-1135A>T) c.1177A>T (p.Asn393Tyr) | |
| 9 | g.99146520A= | CA1867263820 | TGFBR1 | c.959A= (p.Asn320=) c.971A= (p.Asn324=) c.*88A= (n.*88A=) c.728A= (p.Asn243=) c.*962A= (n.*962A=) c.1166A= (p.Asn389=) c.935A= (p.Asn312=) c.1143-1134A= (n.1143-1134A=) c.1178A= (p.Asn393=) | |
| 9 | g.99146520A>C | CA374232775 | TGFBR1 | c.959A>C (p.Asn320Thr) c.971A>C (p.Asn324Thr) c.*88A>C (n.*88A>C) c.728A>C (p.Asn243Thr) c.*962A>C (n.*962A>C) c.1166A>C (p.Asn389Thr) c.935A>C (p.Asn312Thr) c.1143-1134A>C (n.1143-1134A>C) c.1178A>C (p.Asn393Thr) | |
| 9 | g.99146520A>G | CA323179 | TGFBR1 | c.959A>G (p.Asn320Ser) c.971A>G (p.Asn324Ser) c.*88A>G (n.*88A>G) c.728A>G (p.Asn243Ser) c.*962A>G (n.*962A>G) c.1166A>G (p.Asn389Ser) c.935A>G (p.Asn312Ser) c.1143-1134A>G (n.1143-1134A>G) c.1178A>G (p.Asn393Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146520A>T | CA374232777 | TGFBR1 | c.959A>T (p.Asn320Ile) c.971A>T (p.Asn324Ile) c.*88A>T (n.*88A>T) c.728A>T (p.Asn243Ile) c.*962A>T (n.*962A>T) c.1166A>T (p.Asn389Ile) c.935A>T (p.Asn312Ile) c.1143-1134A>T (n.1143-1134A>T) c.1178A>T (p.Asn393Ile) | |
| 9 | g.99146521T>A | CA374232779 | TGFBR1 | c.960T>A (p.Asn320Lys) c.972T>A (p.Asn324Lys) c.*89T>A (n.*89T>A) c.729T>A (p.Asn243Lys) c.*963T>A (n.*963T>A) c.1167T>A (p.Asn389Lys) c.936T>A (p.Asn312Lys) c.1143-1133T>A (n.1143-1133T>A) c.1179T>A (p.Asn393Lys) | |
| 9 | g.99146521T>C | CA044223 | TGFBR1 | c.960T>C (p.Asn320=) c.972T>C (p.Asn324=) c.*89T>C (n.*89T>C) c.729T>C (p.Asn243=) c.*963T>C (n.*963T>C) c.1167T>C (p.Asn389=) c.936T>C (p.Asn312=) c.1143-1133T>C (n.1143-1133T>C) c.1179T>C (p.Asn393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99146521T>G | CA374232783 | TGFBR1 | c.960T>G (p.Asn320Lys) c.972T>G (p.Asn324Lys) c.*89T>G (n.*89T>G) c.729T>G (p.Asn243Lys) c.*963T>G (n.*963T>G) c.1167T>G (p.Asn389Lys) c.936T>G (p.Asn312Lys) c.1143-1133T>G (n.1143-1133T>G) c.1179T>G (p.Asn393Lys) | |
| 9 | g.99146521T= | CA1867263823 | TGFBR1 | c.960T= (p.Asn320=) c.972T= (p.Asn324=) c.*89T= (n.*89T=) c.729T= (p.Asn243=) c.*963T= (n.*963T=) c.1167T= (p.Asn389=) c.936T= (p.Asn312=) c.1143-1133T= (n.1143-1133T=) c.1179T= (p.Asn393=) | |
| 9 | g.99146522A>C | CA374232785 | TGFBR1 | c.961A>C (p.Met321Leu) c.973A>C (p.Met325Leu) c.*90A>C (n.*90A>C) c.730A>C (p.Met244Leu) c.*964A>C (n.*964A>C) c.1168A>C (p.Met390Leu) c.937A>C (p.Met313Leu) c.1143-1132A>C (n.1143-1132A>C) c.1180A>C (p.Met394Leu) | |
| 9 | g.99146522A>G | CA374232787 | TGFBR1 | c.961A>G (p.Met321Val) c.973A>G (p.Met325Val) c.*90A>G (n.*90A>G) c.730A>G (p.Met244Val) c.*964A>G (n.*964A>G) c.1168A>G (p.Met390Val) c.937A>G (p.Met313Val) c.1143-1132A>G (n.1143-1132A>G) c.1180A>G (p.Met394Val) | |
| 9 | g.99146522A>T | CA374232790 | TGFBR1 | c.961A>T (p.Met321Leu) c.973A>T (p.Met325Leu) c.*90A>T (n.*90A>T) c.730A>T (p.Met244Leu) c.*964A>T (n.*964A>T) c.1168A>T (p.Met390Leu) c.937A>T (p.Met313Leu) c.1143-1132A>T (n.1143-1132A>T) c.1180A>T (p.Met394Leu) | |
| 9 | g.99146523T>A | CA374232791 | TGFBR1 | c.962T>A (p.Met321Lys) c.974T>A (p.Met325Lys) c.*91T>A (n.*91T>A) c.731T>A (p.Met244Lys) c.*965T>A (n.*965T>A) c.1169T>A (p.Met390Lys) c.938T>A (p.Met313Lys) c.1143-1131T>A (n.1143-1131T>A) c.1181T>A (p.Met394Lys) | |
| 9 | g.99146523T>C | CA044231 | TGFBR1 | c.962T>C (p.Met321Thr) c.974T>C (p.Met325Thr) c.*91T>C (n.*91T>C) c.731T>C (p.Met244Thr) c.*965T>C (n.*965T>C) c.1169T>C (p.Met390Thr) c.938T>C (p.Met313Thr) c.1143-1131T>C (n.1143-1131T>C) c.1181T>C (p.Met394Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99146523T>G | CA374232796 | TGFBR1 | c.962T>G (p.Met321Arg) c.974T>G (p.Met325Arg) c.*91T>G (n.*91T>G) c.731T>G (p.Met244Arg) c.*965T>G (n.*965T>G) c.1169T>G (p.Met390Arg) c.938T>G (p.Met313Arg) c.1143-1131T>G (n.1143-1131T>G) c.1181T>G (p.Met394Arg) | |
| 9 | g.99146523T= | CA1867263825 | TGFBR1 | c.962T= (p.Met321=) c.974T= (p.Met325=) c.*91T= (n.*91T=) c.731T= (p.Met244=) c.*965T= (n.*965T=) c.1169T= (p.Met390=) c.938T= (p.Met313=) c.1143-1131T= (n.1143-1131T=) c.1181T= (p.Met394=) | |
| 9 | g.99146524G>A | CA374232797 | TGFBR1 | c.963G>A (p.Met321Ile) c.975G>A (p.Met325Ile) c.*92G>A (n.*92G>A) c.732G>A (p.Met244Ile) c.*966G>A (n.*966G>A) c.1170G>A (p.Met390Ile) c.939G>A (p.Met313Ile) c.1143-1130G>A (n.1143-1130G>A) c.1182G>A (p.Met394Ile) | |
| 9 | g.99146524G>C | CA374232799 | TGFBR1 | c.963G>C (p.Met321Ile) c.975G>C (p.Met325Ile) c.*92G>C (n.*92G>C) c.732G>C (p.Met244Ile) c.*966G>C (n.*966G>C) c.1170G>C (p.Met390Ile) c.939G>C (p.Met313Ile) c.1143-1130G>C (n.1143-1130G>C) c.1182G>C (p.Met394Ile) | |
| 9 | g.99146524G>T | CA374232801 | TGFBR1 | c.963G>T (p.Met321Ile) c.975G>T (p.Met325Ile) c.*92G>T (n.*92G>T) c.732G>T (p.Met244Ile) c.*966G>T (n.*966G>T) c.1170G>T (p.Met390Ile) c.939G>T (p.Met313Ile) c.1143-1130G>T (n.1143-1130G>T) c.1182G>T (p.Met394Ile) | |
| 9 | g.99146525A>C | CA374232807 | TGFBR1 | c.964A>C (p.Lys322Gln) c.976A>C (p.Lys326Gln) c.*93A>C (n.*93A>C) c.733A>C (p.Lys245Gln) c.*967A>C (n.*967A>C) c.1171A>C (p.Lys391Gln) c.940A>C (p.Lys314Gln) c.1143-1129A>C (n.1143-1129A>C) c.1183A>C (p.Lys395Gln) | |
| 9 | g.99146525A>G | CA374232804 | TGFBR1 | c.964A>G (p.Lys322Glu) c.976A>G (p.Lys326Glu) c.*93A>G (n.*93A>G) c.733A>G (p.Lys245Glu) c.*967A>G (n.*967A>G) c.1171A>G (p.Lys391Glu) c.940A>G (p.Lys314Glu) c.1143-1129A>G (n.1143-1129A>G) c.1183A>G (p.Lys395Glu) | |
| 9 | g.99146525A>T | CA374232803 | TGFBR1 | c.964A>T (p.Lys322Ter) c.976A>T (p.Lys326Ter) c.*93A>T (n.*93A>T) c.733A>T (p.Lys245Ter) c.*967A>T (n.*967A>T) c.1171A>T (p.Lys391Ter) c.940A>T (p.Lys314Ter) c.1143-1129A>T (n.1143-1129A>T) c.1183A>T (p.Lys395Ter) | |
| 9 | g.99146526A= | CA1867263827 | TGFBR1 | c.965A= (p.Lys322=) c.977A= (p.Lys326=) c.*94A= (n.*94A=) c.734A= (p.Lys245=) c.*968A= (n.*968A=) c.1172A= (p.Lys391=) c.941A= (p.Lys314=) c.1143-1128A= (n.1143-1128A=) c.1184A= (p.Lys395=) | |
| 9 | g.99146526A>C | CA374232810 | TGFBR1 | c.965A>C (p.Lys322Thr) c.977A>C (p.Lys326Thr) c.*94A>C (n.*94A>C) c.734A>C (p.Lys245Thr) c.*968A>C (n.*968A>C) c.1172A>C (p.Lys391Thr) c.941A>C (p.Lys314Thr) c.1143-1128A>C (n.1143-1128A>C) c.1184A>C (p.Lys395Thr) | |
| 9 | g.99146526A>G | CA374232812 | TGFBR1 | c.965A>G (p.Lys322Arg) c.977A>G (p.Lys326Arg) c.*94A>G (n.*94A>G) c.734A>G (p.Lys245Arg) c.*968A>G (n.*968A>G) c.1172A>G (p.Lys391Arg) c.941A>G (p.Lys314Arg) c.1143-1128A>G (n.1143-1128A>G) c.1184A>G (p.Lys395Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146526A>T | CA374232813 | TGFBR1 | c.965A>T (p.Lys322Ile) c.977A>T (p.Lys326Ile) c.*94A>T (n.*94A>T) c.734A>T (p.Lys245Ile) c.*968A>T (n.*968A>T) c.1172A>T (p.Lys391Ile) c.941A>T (p.Lys314Ile) c.1143-1128A>T (n.1143-1128A>T) c.1184A>T (p.Lys395Ile) | |
| 9 | g.99146527A>C | CA374232816 | TGFBR1 | c.966A>C (p.Lys322Asn) c.978A>C (p.Lys326Asn) c.*95A>C (n.*95A>C) c.735A>C (p.Lys245Asn) c.*969A>C (n.*969A>C) c.1173A>C (p.Lys391Asn) c.942A>C (p.Lys314Asn) c.1143-1127A>C (n.1143-1127A>C) c.1185A>C (p.Lys395Asn) | |
| 9 | g.99146527A>G | CA466435296 | TGFBR1 | c.966A>G (p.Lys322=) c.978A>G (p.Lys326=) c.*95A>G (n.*95A>G) c.735A>G (p.Lys245=) c.*969A>G (n.*969A>G) c.1173A>G (p.Lys391=) c.942A>G (p.Lys314=) c.1143-1127A>G (n.1143-1127A>G) c.1185A>G (p.Lys395=) | ClinVar |
| 9 | g.99146527A>T | CA374232817 | TGFBR1 | c.966A>T (p.Lys322Asn) c.978A>T (p.Lys326Asn) c.*95A>T (n.*95A>T) c.735A>T (p.Lys245Asn) c.*969A>T (n.*969A>T) c.1173A>T (p.Lys391Asn) c.942A>T (p.Lys314Asn) c.1143-1127A>T (n.1143-1127A>T) c.1185A>T (p.Lys395Asn) | gnomAD v4 |
| 9 | g.99146528C>A | CA374232819 | TGFBR1 | c.967C>A (p.His323Asn) c.979C>A (p.His327Asn) c.*96C>A (n.*96C>A) c.736C>A (p.His246Asn) c.*970C>A (n.*970C>A) c.1174C>A (p.His392Asn) c.943C>A (p.His315Asn) c.1143-1126C>A (n.1143-1126C>A) c.1186C>A (p.His396Asn) | gnomAD v4 |
| 9 | g.99146528C>G | CA374232821 | TGFBR1 | c.967C>G (p.His323Asp) c.979C>G (p.His327Asp) c.*96C>G (n.*96C>G) c.736C>G (p.His246Asp) c.*970C>G (n.*970C>G) c.1174C>G (p.His392Asp) c.943C>G (p.His315Asp) c.1143-1126C>G (n.1143-1126C>G) c.1186C>G (p.His396Asp) | |
| 9 | g.99146528C>T | CA374232824 | TGFBR1 | c.967C>T (p.His323Tyr) c.979C>T (p.His327Tyr) c.*96C>T (n.*96C>T) c.736C>T (p.His246Tyr) c.*970C>T (n.*970C>T) c.1174C>T (p.His392Tyr) c.943C>T (p.His315Tyr) c.1143-1126C>T (n.1143-1126C>T) c.1186C>T (p.His396Tyr) | |
| 9 | g.99146529A>C | CA374232829 | TGFBR1 | c.968A>C (p.His323Pro) c.980A>C (p.His327Pro) c.*97A>C (n.*97A>C) c.737A>C (p.His246Pro) c.*971A>C (n.*971A>C) c.1175A>C (p.His392Pro) c.944A>C (p.His315Pro) c.1143-1125A>C (n.1143-1125A>C) c.1187A>C (p.His396Pro) | |
| 9 | g.99146529A>G | CA374232830 | TGFBR1 | c.968A>G (p.His323Arg) c.980A>G (p.His327Arg) c.*97A>G (n.*97A>G) c.737A>G (p.His246Arg) c.*971A>G (n.*971A>G) c.1175A>G (p.His392Arg) c.944A>G (p.His315Arg) c.1143-1125A>G (n.1143-1125A>G) c.1187A>G (p.His396Arg) | |
| 9 | g.99146529A>T | CA374232832 | TGFBR1 | c.968A>T (p.His323Leu) c.980A>T (p.His327Leu) c.*97A>T (n.*97A>T) c.737A>T (p.His246Leu) c.*971A>T (n.*971A>T) c.1175A>T (p.His392Leu) c.944A>T (p.His315Leu) c.1143-1125A>T (n.1143-1125A>T) c.1187A>T (p.His396Leu) | |
| 9 | g.99146530T>A | CA374232835 | TGFBR1 | c.969T>A (p.His323Gln) c.981T>A (p.His327Gln) c.*98T>A (n.*98T>A) c.738T>A (p.His246Gln) c.*972T>A (n.*972T>A) c.1176T>A (p.His392Gln) c.945T>A (p.His315Gln) c.1143-1124T>A (n.1143-1124T>A) c.1188T>A (p.His396Gln) | |
| 9 | g.99146530T>C | CA466435305 | TGFBR1 | c.969T>C (p.His323=) c.981T>C (p.His327=) c.*98T>C (n.*98T>C) c.738T>C (p.His246=) c.*972T>C (n.*972T>C) c.1176T>C (p.His392=) c.945T>C (p.His315=) c.1143-1124T>C (n.1143-1124T>C) c.1188T>C (p.His396=) | |
| 9 | g.99146530T>G | CA374232837 | TGFBR1 | c.969T>G (p.His323Gln) c.981T>G (p.His327Gln) c.*98T>G (n.*98T>G) c.738T>G (p.His246Gln) c.*972T>G (n.*972T>G) c.1176T>G (p.His392Gln) c.945T>G (p.His315Gln) c.1143-1124T>G (n.1143-1124T>G) c.1188T>G (p.His396Gln) | |
| 9 | g.99146531T>A | CA374232841 | TGFBR1 | c.970T>A (p.Phe324Ile) c.982T>A (p.Phe328Ile) c.*99T>A (n.*99T>A) c.739T>A (p.Phe247Ile) c.*973T>A (n.*973T>A) c.1177T>A (p.Phe393Ile) c.946T>A (p.Phe316Ile) c.1143-1123T>A (n.1143-1123T>A) c.1189T>A (p.Phe397Ile) | |
| 9 | g.99146531T>C | CA374232839 | TGFBR1 | c.970T>C (p.Phe324Leu) c.982T>C (p.Phe328Leu) c.*99T>C (n.*99T>C) c.739T>C (p.Phe247Leu) c.*973T>C (n.*973T>C) c.1177T>C (p.Phe393Leu) c.946T>C (p.Phe316Leu) c.1143-1123T>C (n.1143-1123T>C) c.1189T>C (p.Phe397Leu) | |
| 9 | g.99146531T>G | CA374232838 | TGFBR1 | c.970T>G (p.Phe324Val) c.982T>G (p.Phe328Val) c.*99T>G (n.*99T>G) c.739T>G (p.Phe247Val) c.*973T>G (n.*973T>G) c.1177T>G (p.Phe393Val) c.946T>G (p.Phe316Val) c.1143-1123T>G (n.1143-1123T>G) c.1189T>G (p.Phe397Val) | |
| 9 | g.99146532T>A | CA374232850 | TGFBR1 | c.971T>A (p.Phe324Tyr) c.983T>A (p.Phe328Tyr) c.*100T>A (n.*100T>A) c.740T>A (p.Phe247Tyr) c.*974T>A (n.*974T>A) c.1178T>A (p.Phe393Tyr) c.947T>A (p.Phe316Tyr) c.1143-1122T>A (n.1143-1122T>A) c.1190T>A (p.Phe397Tyr) | |
| 9 | g.99146532T>C | CA374232844 | TGFBR1 | c.971T>C (p.Phe324Ser) c.983T>C (p.Phe328Ser) c.*100T>C (n.*100T>C) c.740T>C (p.Phe247Ser) c.*974T>C (n.*974T>C) c.1178T>C (p.Phe393Ser) c.947T>C (p.Phe316Ser) c.1143-1122T>C (n.1143-1122T>C) c.1190T>C (p.Phe397Ser) | |
| 9 | g.99146532T>G | CA374232846 | TGFBR1 | c.971T>G (p.Phe324Cys) c.983T>G (p.Phe328Cys) c.*100T>G (n.*100T>G) c.740T>G (p.Phe247Cys) c.*974T>G (n.*974T>G) c.1178T>G (p.Phe393Cys) c.947T>G (p.Phe316Cys) c.1143-1122T>G (n.1143-1122T>G) c.1190T>G (p.Phe397Cys) | |
| 9 | g.99146533T>A | CA374232854 | TGFBR1 | c.972T>A (p.Phe324Leu) c.984T>A (p.Phe328Leu) c.*101T>A (n.*101T>A) c.741T>A (p.Phe247Leu) c.*975T>A (n.*975T>A) c.1179T>A (p.Phe393Leu) c.948T>A (p.Phe316Leu) c.1143-1121T>A (n.1143-1121T>A) c.1191T>A (p.Phe397Leu) | |
| 9 | g.99146533T>C | CA466435309 | TGFBR1 | c.972T>C (p.Phe324=) c.984T>C (p.Phe328=) c.*101T>C (n.*101T>C) c.741T>C (p.Phe247=) c.*975T>C (n.*975T>C) c.1179T>C (p.Phe393=) c.948T>C (p.Phe316=) c.1143-1121T>C (n.1143-1121T>C) c.1191T>C (p.Phe397=) | |
| 9 | g.99146533T>G | CA374232857 | TGFBR1 | c.972T>G (p.Phe324Leu) c.984T>G (p.Phe328Leu) c.*101T>G (n.*101T>G) c.741T>G (p.Phe247Leu) c.*975T>G (n.*975T>G) c.1179T>G (p.Phe393Leu) c.948T>G (p.Phe316Leu) c.1143-1121T>G (n.1143-1121T>G) c.1191T>G (p.Phe397Leu) | COSMIC |
| 9 | g.99146534G>A | CA374232859 | TGFBR1 | c.973G>A (p.Glu325Lys) c.985G>A (p.Glu329Lys) c.*102G>A (n.*102G>A) c.742G>A (p.Glu248Lys) c.*976G>A (n.*976G>A) c.1180G>A (p.Glu394Lys) c.949G>A (p.Glu317Lys) c.1143-1120G>A (n.1143-1120G>A) c.1192G>A (p.Glu398Lys) | ClinVar dbSNP |
| 9 | g.99146534G>C | CA374232861 | TGFBR1 | c.973G>C (p.Glu325Gln) c.985G>C (p.Glu329Gln) c.*102G>C (n.*102G>C) c.742G>C (p.Glu248Gln) c.*976G>C (n.*976G>C) c.1180G>C (p.Glu394Gln) c.949G>C (p.Glu317Gln) c.1143-1120G>C (n.1143-1120G>C) c.1192G>C (p.Glu398Gln) | |
| 9 | g.99146534G= | CA1867263833 | TGFBR1 | c.973G= (p.Glu325=) c.985G= (p.Glu329=) c.*102G= (n.*102G=) c.742G= (p.Glu248=) c.*976G= (n.*976G=) c.1180G= (p.Glu394=) c.949G= (p.Glu317=) c.1143-1120G= (n.1143-1120G=) c.1192G= (p.Glu398=) | |
| 9 | g.99146534G>T | CA374232863 | TGFBR1 | c.973G>T (p.Glu325Ter) c.985G>T (p.Glu329Ter) c.*102G>T (n.*102G>T) c.742G>T (p.Glu248Ter) c.*976G>T (n.*976G>T) c.1180G>T (p.Glu394Ter) c.949G>T (p.Glu317Ter) c.1143-1120G>T (n.1143-1120G>T) c.1192G>T (p.Glu398Ter) | |
| 9 | g.99146535A>C | CA374232865 | TGFBR1 | c.974A>C (p.Glu325Ala) c.986A>C (p.Glu329Ala) c.*103A>C (n.*103A>C) c.743A>C (p.Glu248Ala) c.*977A>C (n.*977A>C) c.1181A>C (p.Glu394Ala) c.950A>C (p.Glu317Ala) c.1143-1119A>C (n.1143-1119A>C) c.1193A>C (p.Glu398Ala) | |
| 9 | g.99146535A>G | CA374232867 | TGFBR1 | c.974A>G (p.Glu325Gly) c.986A>G (p.Glu329Gly) c.*103A>G (n.*103A>G) c.743A>G (p.Glu248Gly) c.*977A>G (n.*977A>G) c.1181A>G (p.Glu394Gly) c.950A>G (p.Glu317Gly) c.1143-1119A>G (n.1143-1119A>G) c.1193A>G (p.Glu398Gly) | |
| 9 | g.99146535A>T | CA374232870 | TGFBR1 | c.974A>T (p.Glu325Val) c.986A>T (p.Glu329Val) c.*103A>T (n.*103A>T) c.743A>T (p.Glu248Val) c.*977A>T (n.*977A>T) c.1181A>T (p.Glu394Val) c.950A>T (p.Glu317Val) c.1143-1119A>T (n.1143-1119A>T) c.1193A>T (p.Glu398Val) | |
| 9 | g.99146536A= | CA1867263839 | TGFBR1 | c.975A= (p.Glu325=) c.987A= (p.Glu329=) c.*104A= (n.*104A=) c.744A= (p.Glu248=) c.*978A= (n.*978A=) c.1182A= (p.Glu394=) c.951A= (p.Glu317=) c.1143-1118A= (n.1143-1118A=) c.1194A= (p.Glu398=) | |
| 9 | g.99146536A>C | CA374232874 | TGFBR1 | c.975A>C (p.Glu325Asp) c.987A>C (p.Glu329Asp) c.*104A>C (n.*104A>C) c.744A>C (p.Glu248Asp) c.*978A>C (n.*978A>C) c.1182A>C (p.Glu394Asp) c.951A>C (p.Glu317Asp) c.1143-1118A>C (n.1143-1118A>C) c.1194A>C (p.Glu398Asp) | |
| 9 | g.99146536A>G | CA466435316 | TGFBR1 | c.975A>G (p.Glu325=) c.987A>G (p.Glu329=) c.*104A>G (n.*104A>G) c.744A>G (p.Glu248=) c.*978A>G (n.*978A>G) c.1182A>G (p.Glu394=) c.951A>G (p.Glu317=) c.1143-1118A>G (n.1143-1118A>G) c.1194A>G (p.Glu398=) | dbSNP gnomAD v4 |
| 9 | g.99146536A>T | CA374232875 | TGFBR1 | c.975A>T (p.Glu325Asp) c.987A>T (p.Glu329Asp) c.*104A>T (n.*104A>T) c.744A>T (p.Glu248Asp) c.*978A>T (n.*978A>T) c.1182A>T (p.Glu394Asp) c.951A>T (p.Glu317Asp) c.1143-1118A>T (n.1143-1118A>T) c.1194A>T (p.Glu398Asp) | |
| 9 | g.99146537T>A | CA374232884 | TGFBR1 | c.976T>A (p.Ser326Thr) c.988T>A (p.Ser330Thr) c.*105T>A (n.*105T>A) c.745T>A (p.Ser249Thr) c.*979T>A (n.*979T>A) c.1183T>A (p.Ser395Thr) c.952T>A (p.Ser318Thr) c.1143-1117T>A (n.1143-1117T>A) c.1195T>A (p.Ser399Thr) | dbSNP |
| 9 | g.99146537T>C | CA374232886 | TGFBR1 | c.976T>C (p.Ser326Pro) c.988T>C (p.Ser330Pro) c.*105T>C (n.*105T>C) c.745T>C (p.Ser249Pro) c.*979T>C (n.*979T>C) c.1183T>C (p.Ser395Pro) c.952T>C (p.Ser318Pro) c.1143-1117T>C (n.1143-1117T>C) c.1195T>C (p.Ser399Pro) | ClinVar |
| 9 | g.99146537T>G | CA374232881 | TGFBR1 | c.976T>G (p.Ser326Ala) c.988T>G (p.Ser330Ala) c.*105T>G (n.*105T>G) c.745T>G (p.Ser249Ala) c.*979T>G (n.*979T>G) c.1183T>G (p.Ser395Ala) c.952T>G (p.Ser318Ala) c.1143-1117T>G (n.1143-1117T>G) c.1195T>G (p.Ser399Ala) | |
| 9 | g.99146537T= | CA1867263844 | TGFBR1 | c.976T= (p.Ser326=) c.988T= (p.Ser330=) c.*105T= (n.*105T=) c.745T= (p.Ser249=) c.*979T= (n.*979T=) c.1183T= (p.Ser395=) c.952T= (p.Ser318=) c.1143-1117T= (n.1143-1117T=) c.1195T= (p.Ser399=) | |
| 9 | g.99146538C>A | CA374232890 | TGFBR1 | c.977C>A (p.Ser326Tyr) c.989C>A (p.Ser330Tyr) c.*106C>A (n.*106C>A) c.746C>A (p.Ser249Tyr) c.*980C>A (n.*980C>A) c.1184C>A (p.Ser395Tyr) c.953C>A (p.Ser318Tyr) c.1143-1116C>A (n.1143-1116C>A) c.1196C>A (p.Ser399Tyr) | |
| 9 | g.99146538C>G | CA374232893 | TGFBR1 | c.977C>G (p.Ser326Cys) c.989C>G (p.Ser330Cys) c.*106C>G (n.*106C>G) c.746C>G (p.Ser249Cys) c.*980C>G (n.*980C>G) c.1184C>G (p.Ser395Cys) c.953C>G (p.Ser318Cys) c.1143-1116C>G (n.1143-1116C>G) c.1196C>G (p.Ser399Cys) | |
| 9 | g.99146538C>T | CA374232897 | TGFBR1 | c.977C>T (p.Ser326Phe) c.989C>T (p.Ser330Phe) c.*106C>T (n.*106C>T) c.746C>T (p.Ser249Phe) c.*980C>T (n.*980C>T) c.1184C>T (p.Ser395Phe) c.953C>T (p.Ser318Phe) c.1143-1116C>T (n.1143-1116C>T) c.1196C>T (p.Ser399Phe) | |
| 9 | g.99146539C>A | CA466435324 | TGFBR1 | c.978C>A (p.Ser326=) c.990C>A (p.Ser330=) c.*107C>A (n.*107C>A) c.747C>A (p.Ser249=) c.*981C>A (n.*981C>A) c.1185C>A (p.Ser395=) c.954C>A (p.Ser318=) c.1143-1115C>A (n.1143-1115C>A) c.1197C>A (p.Ser399=) | dbSNP |
| 9 | g.99146539C>G | CA466435327 | TGFBR1 | c.978C>G (p.Ser326=) c.990C>G (p.Ser330=) c.*107C>G (n.*107C>G) c.747C>G (p.Ser249=) c.*981C>G (n.*981C>G) c.1185C>G (p.Ser395=) c.954C>G (p.Ser318=) c.1143-1115C>G (n.1143-1115C>G) c.1197C>G (p.Ser399=) | |
| 9 | g.99146539C>T | CA466435328 | TGFBR1 | c.978C>T (p.Ser326=) c.990C>T (p.Ser330=) c.*107C>T (n.*107C>T) c.747C>T (p.Ser249=) c.*981C>T (n.*981C>T) c.1185C>T (p.Ser395=) c.954C>T (p.Ser318=) c.1143-1115C>T (n.1143-1115C>T) c.1197C>T (p.Ser399=) | |
| 9 | g.99146540T>A | CA374232902 | TGFBR1 | c.979T>A (p.Phe327Ile) c.991T>A (p.Phe331Ile) c.*108T>A (n.*108T>A) c.748T>A (p.Phe250Ile) c.*982T>A (n.*982T>A) c.1186T>A (p.Phe396Ile) c.955T>A (p.Phe319Ile) c.1143-1114T>A (n.1143-1114T>A) c.1198T>A (p.Phe400Ile) | |
| 9 | g.99146540T>C | CA374232903 | TGFBR1 | c.979T>C (p.Phe327Leu) c.991T>C (p.Phe331Leu) c.*108T>C (n.*108T>C) c.748T>C (p.Phe250Leu) c.*982T>C (n.*982T>C) c.1186T>C (p.Phe396Leu) c.955T>C (p.Phe319Leu) c.1143-1114T>C (n.1143-1114T>C) c.1198T>C (p.Phe400Leu) | |
| 9 | g.99146540T>G | CA044241 | TGFBR1 | c.979T>G (p.Phe327Val) c.991T>G (p.Phe331Val) c.*108T>G (n.*108T>G) c.748T>G (p.Phe250Val) c.*982T>G (n.*982T>G) c.1186T>G (p.Phe396Val) c.955T>G (p.Phe319Val) c.1143-1114T>G (n.1143-1114T>G) c.1198T>G (p.Phe400Val) | dbSNP ExAC gnomAD v2 |
| 9 | g.99146540T= | CA1867263846 | TGFBR1 | c.979T= (p.Phe327=) c.991T= (p.Phe331=) c.*108T= (n.*108T=) c.748T= (p.Phe250=) c.*982T= (n.*982T=) c.1186T= (p.Phe396=) c.955T= (p.Phe319=) c.1143-1114T= (n.1143-1114T=) c.1198T= (p.Phe400=) | |
| 9 | g.99146541T>A | CA374232907 | TGFBR1 | c.980T>A (p.Phe327Tyr) c.992T>A (p.Phe331Tyr) c.*109T>A (n.*109T>A) c.749T>A (p.Phe250Tyr) c.*983T>A (n.*983T>A) c.1187T>A (p.Phe396Tyr) c.956T>A (p.Phe319Tyr) c.1143-1113T>A (n.1143-1113T>A) c.1199T>A (p.Phe400Tyr) | |
| 9 | g.99146541T>C | CA374232911 | TGFBR1 | c.980T>C (p.Phe327Ser) c.992T>C (p.Phe331Ser) c.*109T>C (n.*109T>C) c.749T>C (p.Phe250Ser) c.*983T>C (n.*983T>C) c.1187T>C (p.Phe396Ser) c.956T>C (p.Phe319Ser) c.1143-1113T>C (n.1143-1113T>C) c.1199T>C (p.Phe400Ser) | |
| 9 | g.99146541T>G | CA374232909 | TGFBR1 | c.980T>G (p.Phe327Cys) c.992T>G (p.Phe331Cys) c.*109T>G (n.*109T>G) c.749T>G (p.Phe250Cys) c.*983T>G (n.*983T>G) c.1187T>G (p.Phe396Cys) c.956T>G (p.Phe319Cys) c.1143-1113T>G (n.1143-1113T>G) c.1199T>G (p.Phe400Cys) | |
| 9 | g.99146542C>A | CA374232914 | TGFBR1 | c.981C>A (p.Phe327Leu) c.993C>A (p.Phe331Leu) c.*110C>A (n.*110C>A) c.750C>A (p.Phe250Leu) c.*984C>A (n.*984C>A) c.1188C>A (p.Phe396Leu) c.957C>A (p.Phe319Leu) c.1143-1112C>A (n.1143-1112C>A) c.1200C>A (p.Phe400Leu) | gnomAD v4 |
| 9 | g.99146542C>G | CA374232917 | TGFBR1 | c.981C>G (p.Phe327Leu) c.993C>G (p.Phe331Leu) c.*110C>G (n.*110C>G) c.750C>G (p.Phe250Leu) c.*984C>G (n.*984C>G) c.1188C>G (p.Phe396Leu) c.957C>G (p.Phe319Leu) c.1143-1112C>G (n.1143-1112C>G) c.1200C>G (p.Phe400Leu) | COSMIC |
| 9 | g.99146542C>T | CA466435332 | TGFBR1 | c.981C>T (p.Phe327=) c.993C>T (p.Phe331=) c.*110C>T (n.*110C>T) c.750C>T (p.Phe250=) c.*984C>T (n.*984C>T) c.1188C>T (p.Phe396=) c.957C>T (p.Phe319=) c.1143-1112C>T (n.1143-1112C>T) c.1200C>T (p.Phe400=) | |
| 9 | g.99146543A>C | CA374232920 | TGFBR1 | c.982A>C (p.Lys328Gln) c.994A>C (p.Lys332Gln) c.*111A>C (n.*111A>C) c.751A>C (p.Lys251Gln) c.*985A>C (n.*985A>C) c.1189A>C (p.Lys397Gln) c.958A>C (p.Lys320Gln) c.1143-1111A>C (n.1143-1111A>C) c.1201A>C (p.Lys401Gln) | |
| 9 | g.99146543A>G | CA374232921 | TGFBR1 | c.982A>G (p.Lys328Glu) c.994A>G (p.Lys332Glu) c.*111A>G (n.*111A>G) c.751A>G (p.Lys251Glu) c.*985A>G (n.*985A>G) c.1189A>G (p.Lys397Glu) c.958A>G (p.Lys320Glu) c.1143-1111A>G (n.1143-1111A>G) c.1201A>G (p.Lys401Glu) | |
| 9 | g.99146543A>T | CA374232922 | TGFBR1 | c.982A>T (p.Lys328Ter) c.994A>T (p.Lys332Ter) c.*111A>T (n.*111A>T) c.751A>T (p.Lys251Ter) c.*985A>T (n.*985A>T) c.1189A>T (p.Lys397Ter) c.958A>T (p.Lys320Ter) c.1143-1111A>T (n.1143-1111A>T) c.1201A>T (p.Lys401Ter) | ClinVar |
| 9 | g.99146544A= | CA1867263853 | TGFBR1 | c.983A= (p.Lys328=) c.995A= (p.Lys332=) c.*112A= (n.*112A=) c.752A= (p.Lys251=) c.*986A= (n.*986A=) c.1190A= (p.Lys397=) c.959A= (p.Lys320=) c.1143-1110A= (n.1143-1110A=) c.1202A= (p.Lys401=) | |
| 9 | g.99146544A>C | CA374232924 | TGFBR1 | c.983A>C (p.Lys328Thr) c.995A>C (p.Lys332Thr) c.*112A>C (n.*112A>C) c.752A>C (p.Lys251Thr) c.*986A>C (n.*986A>C) c.1190A>C (p.Lys397Thr) c.959A>C (p.Lys320Thr) c.1143-1110A>C (n.1143-1110A>C) c.1202A>C (p.Lys401Thr) | |
| 9 | g.99146544A>G | CA196894159 | TGFBR1 | c.983A>G (p.Lys328Arg) c.995A>G (p.Lys332Arg) c.*112A>G (n.*112A>G) c.752A>G (p.Lys251Arg) c.*986A>G (n.*986A>G) c.1190A>G (p.Lys397Arg) c.959A>G (p.Lys320Arg) c.1143-1110A>G (n.1143-1110A>G) c.1202A>G (p.Lys401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146544A>T | CA374232923 | TGFBR1 | c.983A>T (p.Lys328Ile) c.995A>T (p.Lys332Ile) c.*112A>T (n.*112A>T) c.752A>T (p.Lys251Ile) c.*986A>T (n.*986A>T) c.1190A>T (p.Lys397Ile) c.959A>T (p.Lys320Ile) c.1143-1110A>T (n.1143-1110A>T) c.1202A>T (p.Lys401Ile) | |
| 9 | g.99146545A>C | CA374232925 | TGFBR1 | c.984A>C (p.Lys328Asn) c.996A>C (p.Lys332Asn) c.*113A>C (n.*113A>C) c.753A>C (p.Lys251Asn) c.*987A>C (n.*987A>C) c.1191A>C (p.Lys397Asn) c.960A>C (p.Lys320Asn) c.1143-1109A>C (n.1143-1109A>C) c.1203A>C (p.Lys401Asn) | |
| 9 | g.99146545A>G | CA466435338 | TGFBR1 | c.984A>G (p.Lys328=) c.996A>G (p.Lys332=) c.*113A>G (n.*113A>G) c.753A>G (p.Lys251=) c.*987A>G (n.*987A>G) c.1191A>G (p.Lys397=) c.960A>G (p.Lys320=) c.1143-1109A>G (n.1143-1109A>G) c.1203A>G (p.Lys401=) | |
| 9 | g.99146545A>T | CA374232926 | TGFBR1 | c.984A>T (p.Lys328Asn) c.996A>T (p.Lys332Asn) c.*113A>T (n.*113A>T) c.753A>T (p.Lys251Asn) c.*987A>T (n.*987A>T) c.1191A>T (p.Lys397Asn) c.960A>T (p.Lys320Asn) c.1143-1109A>T (n.1143-1109A>T) c.1203A>T (p.Lys401Asn) | |
| 9 | g.99146546C>A | CA374232928 | TGFBR1 | c.985C>A (p.Arg329Ser) c.997C>A (p.Arg333Ser) c.*114C>A (n.*114C>A) c.754C>A (p.Arg252Ser) c.*988C>A (n.*988C>A) c.1192C>A (p.Arg398Ser) c.961C>A (p.Arg321Ser) c.1143-1108C>A (n.1143-1108C>A) c.1204C>A (p.Arg402Ser) | |
| 9 | g.99146546C= | CA1867263854 | TGFBR1 | c.985C= (p.Arg329=) c.997C= (p.Arg333=) c.*114C= (n.*114C=) c.754C= (p.Arg252=) c.*988C= (n.*988C=) c.1192C= (p.Arg398=) c.961C= (p.Arg321=) c.1143-1108C= (n.1143-1108C=) c.1204C= (p.Arg402=) | |
| 9 | g.99146546C>G | CA374232931 | TGFBR1 | c.985C>G (p.Arg329Gly) c.997C>G (p.Arg333Gly) c.*114C>G (n.*114C>G) c.754C>G (p.Arg252Gly) c.*988C>G (n.*988C>G) c.1192C>G (p.Arg398Gly) c.961C>G (p.Arg321Gly) c.1143-1108C>G (n.1143-1108C>G) c.1204C>G (p.Arg402Gly) | |
| 9 | g.99146546C>T | CA374232932 | TGFBR1 | c.985C>T (p.Arg329Cys) c.997C>T (p.Arg333Cys) c.*114C>T (n.*114C>T) c.754C>T (p.Arg252Cys) c.*988C>T (n.*988C>T) c.1192C>T (p.Arg398Cys) c.961C>T (p.Arg321Cys) c.1143-1108C>T (n.1143-1108C>T) c.1204C>T (p.Arg402Cys) | dbSNP gnomAD v4 |
| 9 | g.99146547G>A | CA044253 | TGFBR1 | c.986G>A (p.Arg329His) c.998G>A (p.Arg333His) c.*115G>A (n.*115G>A) c.755G>A (p.Arg252His) c.*989G>A (n.*989G>A) c.1193G>A (p.Arg398His) c.962G>A (p.Arg321His) c.1143-1107G>A (n.1143-1107G>A) c.1205G>A (p.Arg402His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99146547G>C | CA374232935 | TGFBR1 | c.986G>C (p.Arg329Pro) c.998G>C (p.Arg333Pro) c.*115G>C (n.*115G>C) c.755G>C (p.Arg252Pro) c.*989G>C (n.*989G>C) c.1193G>C (p.Arg398Pro) c.962G>C (p.Arg321Pro) c.1143-1107G>C (n.1143-1107G>C) c.1205G>C (p.Arg402Pro) | |
| 9 | g.99146547G= | CA1867263857 | TGFBR1 | c.986G= (p.Arg329=) c.998G= (p.Arg333=) c.*115G= (n.*115G=) c.755G= (p.Arg252=) c.*989G= (n.*989G=) c.1193G= (p.Arg398=) c.962G= (p.Arg321=) c.1143-1107G= (n.1143-1107G=) c.1205G= (p.Arg402=) | |
| 9 | g.99146547G>T | CA374232933 | TGFBR1 | c.986G>T (p.Arg329Leu) c.998G>T (p.Arg333Leu) c.*115G>T (n.*115G>T) c.755G>T (p.Arg252Leu) c.*989G>T (n.*989G>T) c.1193G>T (p.Arg398Leu) c.962G>T (p.Arg321Leu) c.1143-1107G>T (n.1143-1107G>T) c.1205G>T (p.Arg402Leu) | gnomAD v4 |
| 9 | g.99146548T>A | CA466435342 | TGFBR1 | c.987T>A (p.Arg329=) c.999T>A (p.Arg333=) c.*116T>A (n.*116T>A) c.756T>A (p.Arg252=) c.*990T>A (n.*990T>A) c.1194T>A (p.Arg398=) c.963T>A (p.Arg321=) c.1143-1106T>A (n.1143-1106T>A) c.1206T>A (p.Arg402=) | |
| 9 | g.99146548T>C | CA466435343 | TGFBR1 | c.987T>C (p.Arg329=) c.999T>C (p.Arg333=) c.*116T>C (n.*116T>C) c.756T>C (p.Arg252=) c.*990T>C (n.*990T>C) c.1194T>C (p.Arg398=) c.963T>C (p.Arg321=) c.1143-1106T>C (n.1143-1106T>C) c.1206T>C (p.Arg402=) | ClinVar |
| 9 | g.99146548T>G | CA466435344 | TGFBR1 | c.987T>G (p.Arg329=) c.999T>G (p.Arg333=) c.*116T>G (n.*116T>G) c.756T>G (p.Arg252=) c.*990T>G (n.*990T>G) c.1194T>G (p.Arg398=) c.963T>G (p.Arg321=) c.1143-1106T>G (n.1143-1106T>G) c.1206T>G (p.Arg402=) | |
| 9 | g.99146549G>A | CA374232937 | TGFBR1 | c.988G>A (p.Ala330Thr) c.1000G>A (p.Ala334Thr) c.*117G>A (n.*117G>A) c.757G>A (p.Ala253Thr) c.*991G>A (n.*991G>A) c.1195G>A (p.Ala399Thr) c.964G>A (p.Ala322Thr) c.1143-1105G>A (n.1143-1105G>A) c.1207G>A (p.Ala403Thr) | dbSNP |
| 9 | g.99146549G>C | CA374232939 | TGFBR1 | c.988G>C (p.Ala330Pro) c.1000G>C (p.Ala334Pro) c.*117G>C (n.*117G>C) c.757G>C (p.Ala253Pro) c.*991G>C (n.*991G>C) c.1195G>C (p.Ala399Pro) c.964G>C (p.Ala322Pro) c.1143-1105G>C (n.1143-1105G>C) c.1207G>C (p.Ala403Pro) | |
| 9 | g.99146549G= | CA1867263859 | TGFBR1 | c.988G= (p.Ala330=) c.1000G= (p.Ala334=) c.*117G= (n.*117G=) c.757G= (p.Ala253=) c.*991G= (n.*991G=) c.1195G= (p.Ala399=) c.964G= (p.Ala322=) c.1143-1105G= (n.1143-1105G=) c.1207G= (p.Ala403=) | |
| 9 | g.99146549G>T | CA374232942 | TGFBR1 | c.988G>T (p.Ala330Ser) c.1000G>T (p.Ala334Ser) c.*117G>T (n.*117G>T) c.757G>T (p.Ala253Ser) c.*991G>T (n.*991G>T) c.1195G>T (p.Ala399Ser) c.964G>T (p.Ala322Ser) c.1143-1105G>T (n.1143-1105G>T) c.1207G>T (p.Ala403Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99146550C>A | CA374232945 | TGFBR1 | c.989C>A (p.Ala330Asp) c.1001C>A (p.Ala334Asp) c.*118C>A (n.*118C>A) c.758C>A (p.Ala253Asp) c.*992C>A (n.*992C>A) c.1196C>A (p.Ala399Asp) c.965C>A (p.Ala322Asp) c.1143-1104C>A (n.1143-1104C>A) c.1208C>A (p.Ala403Asp) | |
| 9 | g.99146550C= | CA1867263863 | TGFBR1 | c.989C= (p.Ala330=) c.1001C= (p.Ala334=) c.*118C= (n.*118C=) c.758C= (p.Ala253=) c.*992C= (n.*992C=) c.1196C= (p.Ala399=) c.965C= (p.Ala322=) c.1143-1104C= (n.1143-1104C=) c.1208C= (p.Ala403=) | |
| 9 | g.99146550C>G | CA374232946 | TGFBR1 | c.989C>G (p.Ala330Gly) c.1001C>G (p.Ala334Gly) c.*118C>G (n.*118C>G) c.758C>G (p.Ala253Gly) c.*992C>G (n.*992C>G) c.1196C>G (p.Ala399Gly) c.965C>G (p.Ala322Gly) c.1143-1104C>G (n.1143-1104C>G) c.1208C>G (p.Ala403Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146550C>T | CA374232947 | TGFBR1 | c.989C>T (p.Ala330Val) c.1001C>T (p.Ala334Val) c.*118C>T (n.*118C>T) c.758C>T (p.Ala253Val) c.*992C>T (n.*992C>T) c.1196C>T (p.Ala399Val) c.965C>T (p.Ala322Val) c.1143-1104C>T (n.1143-1104C>T) c.1208C>T (p.Ala403Val) | |
| 9 | g.99146551T>A | CA466435347 | TGFBR1 | c.990T>A (p.Ala330=) c.1002T>A (p.Ala334=) c.*119T>A (n.*119T>A) c.759T>A (p.Ala253=) c.*993T>A (n.*993T>A) c.1197T>A (p.Ala399=) c.966T>A (p.Ala322=) c.1143-1103T>A (n.1143-1103T>A) c.1209T>A (p.Ala403=) | |
| 9 | g.99146551T>C | CA466435350 | TGFBR1 | c.990T>C (p.Ala330=) c.1002T>C (p.Ala334=) c.*119T>C (n.*119T>C) c.759T>C (p.Ala253=) c.*993T>C (n.*993T>C) c.1197T>C (p.Ala399=) c.966T>C (p.Ala322=) c.1143-1103T>C (n.1143-1103T>C) c.1209T>C (p.Ala403=) | gnomAD v4 |
| 9 | g.99146551T>G | CA466435345 | TGFBR1 | c.990T>G (p.Ala330=) c.1002T>G (p.Ala334=) c.*119T>G (n.*119T>G) c.759T>G (p.Ala253=) c.*993T>G (n.*993T>G) c.1197T>G (p.Ala399=) c.966T>G (p.Ala322=) c.1143-1103T>G (n.1143-1103T>G) c.1209T>G (p.Ala403=) | gnomAD v4 |
| 9 | g.99146552G>A | CA374232951 | TGFBR1 | c.991G>A (p.Asp331Asn) c.1003G>A (p.Asp335Asn) c.*120G>A (n.*120G>A) c.760G>A (p.Asp254Asn) c.*994G>A (n.*994G>A) c.1198G>A (p.Asp400Asn) c.967G>A (p.Asp323Asn) c.1143-1102G>A (n.1143-1102G>A) c.1210G>A (p.Asp404Asn) | ClinVar dbSNP |
| 9 | g.99146552G>C | CA374232948 | TGFBR1 | c.991G>C (p.Asp331His) c.1003G>C (p.Asp335His) c.*120G>C (n.*120G>C) c.760G>C (p.Asp254His) c.*994G>C (n.*994G>C) c.1198G>C (p.Asp400His) c.967G>C (p.Asp323His) c.1143-1102G>C (n.1143-1102G>C) c.1210G>C (p.Asp404His) | COSMIC |
| 9 | g.99146552G>T | CA374232950 | TGFBR1 | c.991G>T (p.Asp331Tyr) c.1003G>T (p.Asp335Tyr) c.*120G>T (n.*120G>T) c.760G>T (p.Asp254Tyr) c.*994G>T (n.*994G>T) c.1198G>T (p.Asp400Tyr) c.967G>T (p.Asp323Tyr) c.1143-1102G>T (n.1143-1102G>T) c.1210G>T (p.Asp404Tyr) | dbSNP COSMIC |
| 9 | g.99146553A= | CA1867263867 | TGFBR1 | c.992A= (p.Asp331=) c.1004A= (p.Asp335=) c.*121A= (n.*121A=) c.761A= (p.Asp254=) c.*995A= (n.*995A=) c.1199A= (p.Asp400=) c.968A= (p.Asp323=) c.1143-1101A= (n.1143-1101A=) c.1211A= (p.Asp404=) | |
| 9 | g.99146553A>C | CA374232953 | TGFBR1 | c.992A>C (p.Asp331Ala) c.1004A>C (p.Asp335Ala) c.*121A>C (n.*121A>C) c.761A>C (p.Asp254Ala) c.*995A>C (n.*995A>C) c.1199A>C (p.Asp400Ala) c.968A>C (p.Asp323Ala) c.1143-1101A>C (n.1143-1101A>C) c.1211A>C (p.Asp404Ala) | |
| 9 | g.99146553A>G | CA008717 | TGFBR1 | c.992A>G (p.Asp331Gly) c.1004A>G (p.Asp335Gly) c.*121A>G (n.*121A>G) c.761A>G (p.Asp254Gly) c.*995A>G (n.*995A>G) c.1199A>G (p.Asp400Gly) c.968A>G (p.Asp323Gly) c.1143-1101A>G (n.1143-1101A>G) c.1211A>G (p.Asp404Gly) | ClinVar dbSNP |
| 9 | g.99146553A>T | CA374232956 | TGFBR1 | c.992A>T (p.Asp331Val) c.1004A>T (p.Asp335Val) c.*121A>T (n.*121A>T) c.761A>T (p.Asp254Val) c.*995A>T (n.*995A>T) c.1199A>T (p.Asp400Val) c.968A>T (p.Asp323Val) c.1143-1101A>T (n.1143-1101A>T) c.1211A>T (p.Asp404Val) | |
| 9 | g.99146554C>A | CA374232957 | TGFBR1 | c.993C>A (p.Asp331Glu) c.1005C>A (p.Asp335Glu) c.*122C>A (n.*122C>A) c.762C>A (p.Asp254Glu) c.*996C>A (n.*996C>A) c.1200C>A (p.Asp400Glu) c.969C>A (p.Asp323Glu) c.1143-1100C>A (n.1143-1100C>A) c.1212C>A (p.Asp404Glu) | |
| 9 | g.99146554C= | CA1867263871 | TGFBR1 | c.993C= (p.Asp331=) c.1005C= (p.Asp335=) c.*122C= (n.*122C=) c.762C= (p.Asp254=) c.*996C= (n.*996C=) c.1200C= (p.Asp400=) c.969C= (p.Asp323=) c.1143-1100C= (n.1143-1100C=) c.1212C= (p.Asp404=) | |
| 9 | g.99146554C>G | CA374232958 | TGFBR1 | c.993C>G (p.Asp331Glu) c.1005C>G (p.Asp335Glu) c.*122C>G (n.*122C>G) c.762C>G (p.Asp254Glu) c.*996C>G (n.*996C>G) c.1200C>G (p.Asp400Glu) c.969C>G (p.Asp323Glu) c.1143-1100C>G (n.1143-1100C>G) c.1212C>G (p.Asp404Glu) | |
| 9 | g.99146554C>T | CA466435356 | TGFBR1 | c.993C>T (p.Asp331=) c.1005C>T (p.Asp335=) c.*122C>T (n.*122C>T) c.762C>T (p.Asp254=) c.*996C>T (n.*996C>T) c.1200C>T (p.Asp400=) c.969C>T (p.Asp323=) c.1143-1100C>T (n.1143-1100C>T) c.1212C>T (p.Asp404=) | dbSNP gnomAD v4 |
| 9 | g.99146555A>C | CA374232959 | TGFBR1 | c.994A>C (p.Ile332Leu) c.1006A>C (p.Ile336Leu) c.*123A>C (n.*123A>C) c.763A>C (p.Ile255Leu) c.*997A>C (n.*997A>C) c.1201A>C (p.Ile401Leu) c.970A>C (p.Ile324Leu) c.1143-1099A>C (n.1143-1099A>C) c.1213A>C (p.Ile405Leu) | |
| 9 | g.99146555A>G | CA374232961 | TGFBR1 | c.994A>G (p.Ile332Val) c.1006A>G (p.Ile336Val) c.*123A>G (n.*123A>G) c.763A>G (p.Ile255Val) c.*997A>G (n.*997A>G) c.1201A>G (p.Ile401Val) c.970A>G (p.Ile324Val) c.1143-1099A>G (n.1143-1099A>G) c.1213A>G (p.Ile405Val) | ClinVar |
| 9 | g.99146555A>T | CA374232963 | TGFBR1 | c.994A>T (p.Ile332Phe) c.1006A>T (p.Ile336Phe) c.*123A>T (n.*123A>T) c.763A>T (p.Ile255Phe) c.*997A>T (n.*997A>T) c.1201A>T (p.Ile401Phe) c.970A>T (p.Ile324Phe) c.1143-1099A>T (n.1143-1099A>T) c.1213A>T (p.Ile405Phe) | |
| 9 | g.99146556T>A | CA374232966 | TGFBR1 | c.995T>A (p.Ile332Asn) c.1007T>A (p.Ile336Asn) c.*124T>A (n.*124T>A) c.764T>A (p.Ile255Asn) c.*998T>A (n.*998T>A) c.1202T>A (p.Ile401Asn) c.971T>A (p.Ile324Asn) c.1143-1098T>A (n.1143-1098T>A) c.1214T>A (p.Ile405Asn) | dbSNP gnomAD v2 |
| 9 | g.99146556T>C | CA374232967 | TGFBR1 | c.995T>C (p.Ile332Thr) c.1007T>C (p.Ile336Thr) c.*124T>C (n.*124T>C) c.764T>C (p.Ile255Thr) c.*998T>C (n.*998T>C) c.1202T>C (p.Ile401Thr) c.971T>C (p.Ile324Thr) c.1143-1098T>C (n.1143-1098T>C) c.1214T>C (p.Ile405Thr) | |
| 9 | g.99146556T>G | CA374232969 | TGFBR1 | c.995T>G (p.Ile332Ser) c.1007T>G (p.Ile336Ser) c.*124T>G (n.*124T>G) c.764T>G (p.Ile255Ser) c.*998T>G (n.*998T>G) c.1202T>G (p.Ile401Ser) c.971T>G (p.Ile324Ser) c.1143-1098T>G (n.1143-1098T>G) c.1214T>G (p.Ile405Ser) | |
| 9 | g.99146556T= | CA1867263874 | TGFBR1 | c.995T= (p.Ile332=) c.1007T= (p.Ile336=) c.*124T= (n.*124T=) c.764T= (p.Ile255=) c.*998T= (n.*998T=) c.1202T= (p.Ile401=) c.971T= (p.Ile324=) c.1143-1098T= (n.1143-1098T=) c.1214T= (p.Ile405=) | |
| 9 | g.99146557C>A | CA466435364 | TGFBR1 | c.996C>A (p.Ile332=) c.1008C>A (p.Ile336=) c.*125C>A (n.*125C>A) c.765C>A (p.Ile255=) c.*999C>A (n.*999C>A) c.1203C>A (p.Ile401=) c.972C>A (p.Ile324=) c.1143-1097C>A (n.1143-1097C>A) c.1215C>A (p.Ile405=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99146557C= | CA1867263880 | TGFBR1 | c.996C= (p.Ile332=) c.1008C= (p.Ile336=) c.*125C= (n.*125C=) c.765C= (p.Ile255=) c.*999C= (n.*999C=) c.1203C= (p.Ile401=) c.972C= (p.Ile324=) c.1143-1097C= (n.1143-1097C=) c.1215C= (p.Ile405=) | |
| 9 | g.99146557C>G | CA374232971 | TGFBR1 | c.996C>G (p.Ile332Met) c.1008C>G (p.Ile336Met) c.*125C>G (n.*125C>G) c.765C>G (p.Ile255Met) c.*999C>G (n.*999C>G) c.1203C>G (p.Ile401Met) c.972C>G (p.Ile324Met) c.1143-1097C>G (n.1143-1097C>G) c.1215C>G (p.Ile405Met) | ClinVar gnomAD v4 |
| 9 | g.99146557C>T | CA044274 | TGFBR1 | c.996C>T (p.Ile332=) c.1008C>T (p.Ile336=) c.*125C>T (n.*125C>T) c.765C>T (p.Ile255=) c.*999C>T (n.*999C>T) c.1203C>T (p.Ile401=) c.972C>T (p.Ile324=) c.1143-1097C>T (n.1143-1097C>T) c.1215C>T (p.Ile405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |