| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.206116602_206116603insTCCAGCGGTAGGT | CA730518597 | AVPR1B | c.298_299insGGAACCTACCGCT (p.Phe100TrpfsTer?) n.36+1071_36+1072insGGAACCTACCGCT | dbSNP |
| 1 | g.206116596G>A | CA1359265 | AVPR1B | c.295C>T (p.Arg99Cys) n.36+1068C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116596G>C | CA36510938 | AVPR1B | c.295C>G (p.Arg99Gly) n.36+1068C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116596G= | CA2482862263 | AVPR1B | c.295C= (p.Arg99=) n.36+1068C= | |
| 1 | g.206116596G>T | CA36510941 | AVPR1B | c.295C>A (p.Arg99Ser) n.36+1068C>A | |
| 1 | g.206116597del | CA913072384 | AVPR1B | c.295del (p.Arg99AlafsTer30) n.36+1068del | |
| 1 | g.206116597G>A | CA423132528 | AVPR1B | c.294C>T (p.Tyr98=) n.36+1067C>T | |
| 1 | g.206116597G>C | CA344455620 | AVPR1B | c.294C>G (p.Tyr98Ter) n.36+1067C>G | |
| 1 | g.206116597G>T | CA344455621 | AVPR1B | c.294C>A (p.Tyr98Ter) n.36+1067C>A | gnomAD v4 |
| 1 | g.206116598T>A | CA344455624 | AVPR1B | c.293A>T (p.Tyr98Phe) n.36+1066A>T | gnomAD v4 |
| 1 | g.206116598T>C | CA344455625 | AVPR1B | c.293A>G (p.Tyr98Cys) n.36+1066A>G | |
| 1 | g.206116598T>G | CA344455626 | AVPR1B | c.293A>C (p.Tyr98Ser) n.36+1066A>C | |
| 1 | g.206116599A>C | CA344455627 | AVPR1B | c.292T>G (p.Tyr98Asp) n.36+1065T>G | |
| 1 | g.206116599A>G | CA344455628 | AVPR1B | c.292T>C (p.Tyr98His) n.36+1065T>C | |
| 1 | g.206116599A>T | CA344455629 | AVPR1B | c.292T>A (p.Tyr98Asn) n.36+1065T>A | |
| 1 | g.206116600G>A | CA1359264 | AVPR1B | c.291C>T (p.Thr97=) n.36+1064C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116600G>C | CA36510943 | AVPR1B | c.291C>G (p.Thr97=) n.36+1064C>G | |
| 1 | g.206116600G= | CA2482862264 | AVPR1B | c.291C= (p.Thr97=) n.36+1064C= | |
| 1 | g.206116600G>T | CA36510946 | AVPR1B | c.291C>A (p.Thr97=) n.36+1064C>A | |
| 1 | g.206116601G>A | CA344455634 | AVPR1B | c.290C>T (p.Thr97Ile) n.36+1063C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116601G>C | CA344455637 | AVPR1B | c.290C>G (p.Thr97Ser) n.36+1063C>G | |
| 1 | g.206116601G= | CA2482862265 | AVPR1B | c.290C= (p.Thr97=) n.36+1063C= | |
| 1 | g.206116601G>T | CA344455635 | AVPR1B | c.290C>A (p.Thr97Asn) n.36+1063C>A | |
| 1 | g.206116602T>A | CA344455639 | AVPR1B | c.289A>T (p.Thr97Ser) n.36+1062A>T | |
| 1 | g.206116602T>C | CA344455641 | AVPR1B | c.289A>G (p.Thr97Ala) n.36+1062A>G | gnomAD v4 |
| 1 | g.206116602T>G | CA344455643 | AVPR1B | c.289A>C (p.Thr97Pro) n.36+1062A>C | |
| 1 | g.206116603G>A | CA1359263 | AVPR1B | c.288C>T (p.Ile96=) n.36+1061C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116603G>C | CA36510951 | AVPR1B | c.288C>G (p.Ile96Met) n.36+1061C>G | gnomAD v4 |
| 1 | g.206116603G= | CA2482862266 | AVPR1B | c.288C= (p.Ile96=) n.36+1061C= | |
| 1 | g.206116603G>T | CA36510950 | AVPR1B | c.288C>A (p.Ile96=) n.36+1061C>A | |
| 1 | g.206116604A>C | CA344455651 | AVPR1B | c.287T>G (p.Ile96Ser) n.36+1060T>G | |
| 1 | g.206116604A>G | CA344455653 | AVPR1B | c.287T>C (p.Ile96Thr) n.36+1060T>C | |
| 1 | g.206116604A>T | CA344455654 | AVPR1B | c.287T>A (p.Ile96Asn) n.36+1060T>A | gnomAD v4 |
| 1 | g.206116605T>A | CA36510953 | AVPR1B | c.286A>T (p.Ile96Phe) n.36+1059A>T | |
| 1 | g.206116605T>C | CA1359262 | AVPR1B | c.286A>G (p.Ile96Val) n.36+1059A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116605T>G | CA36510957 | AVPR1B | c.286A>C (p.Ile96Leu) n.36+1059A>C | |
| 1 | g.206116605T= | CA2482862267 | AVPR1B | c.286A= (p.Ile96=) n.36+1059A= | |
| 1 | g.206116606G>A | CA423132536 | AVPR1B | c.285C>T (p.Asp95=) n.36+1058C>T | |
| 1 | g.206116606G>C | CA344455658 | AVPR1B | c.285C>G (p.Asp95Glu) n.36+1058C>G | |
| 1 | g.206116606G>T | CA344455656 | AVPR1B | c.285C>A (p.Asp95Glu) n.36+1058C>A | |
| 1 | g.206116607T>A | CA344455660 | AVPR1B | c.284A>T (p.Asp95Val) n.36+1057A>T | |
| 1 | g.206116607T>C | CA344455661 | AVPR1B | c.284A>G (p.Asp95Gly) n.36+1057A>G | |
| 1 | g.206116607T>G | CA344455665 | AVPR1B | c.284A>C (p.Asp95Ala) n.36+1057A>C | |
| 1 | g.206116608C>A | CA344455667 | AVPR1B | c.283G>T (p.Asp95Tyr) n.36+1056G>T | |
| 1 | g.206116608C>G | CA344455670 | AVPR1B | c.283G>C (p.Asp95His) n.36+1056G>C | gnomAD v4 |
| 1 | g.206116608C>T | CA344455672 | AVPR1B | c.283G>A (p.Asp95Asn) n.36+1056G>A | |
| 1 | g.206116609C>A | CA344455675 | AVPR1B | c.282G>T (p.Trp94Cys) n.36+1055G>T | |
| 1 | g.206116609C>G | CA344455677 | AVPR1B | c.282G>C (p.Trp94Cys) n.36+1055G>C | |
| 1 | g.206116609C>T | CA344455679 | AVPR1B | c.282G>A (p.Trp94Ter) n.36+1055G>A | |
| 1 | g.206116610C>A | CA344455682 | AVPR1B | c.281G>T (p.Trp94Leu) n.36+1054G>T |