Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3082970_3083024del | CA2651674822 | AVP | c.280_322+12del | gnomAD v4 |
20 | g.3082972_3082996del | CA2651674828 | AVP | c.308_322+10del | gnomAD v4 |
20 | g.3082980C>A | CA408061472 | AVP | c.319G>T (p.Asp107Tyr) | dbSNP gnomAD v4 |
20 | g.3082980C= | CA2346405522 | AVP | c.319G= (p.Asp107=) | |
20 | g.3082980C>G | CA408061473 | AVP | c.319G>C (p.Asp107His) | gnomAD v4 |
20 | g.3082980C>T | CA9739440 | AVP | c.319G>A (p.Asp107Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082981G>A | CA509554613 | AVP | c.318C>T (p.Asn106=) | gnomAD v4 |
20 | g.3082981G>C | CA408061474 | AVP | c.318C>G (p.Asn106Lys) | dbSNP gnomAD v4 |
20 | g.3082981G= | CA2346405523 | AVP | c.318C= (p.Asn106=) | |
20 | g.3082981G>T | CA408061475 | AVP | c.318C>A (p.Asn106Lys) | gnomAD v4 |
20 | g.3082982T>A | CA408061476 | AVP | c.317A>T (p.Asn106Ile) | |
20 | g.3082982T>C | CA408061477 | AVP | c.317A>G (p.Asn106Ser) | gnomAD v4 |
20 | g.3082982T>G | CA408061478 | AVP | c.317A>C (p.Asn106Thr) | gnomAD v4 |
20 | g.3082983T>A | CA408061481 | AVP | c.316A>T (p.Asn106Tyr) | |
20 | g.3082983T>C | CA408061480 | AVP | c.316A>G (p.Asn106Asp) | gnomAD v4 |
20 | g.3082983T>G | CA408061479 | AVP | c.316A>C (p.Asn106His) | |
20 | g.3082984G>A | CA509554617 | AVP | c.315C>T (p.Cys105=) | gnomAD v4 |
20 | g.3082984G>C | CA408061482 | AVP | c.315C>G (p.Cys105Trp) | |
20 | g.3082984G= | CA2346405524 | AVP | c.315C= (p.Cys105=) | |
20 | g.3082984G>T | CA408061483 | AVP | c.315C>A (p.Cys105Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082985C>A | CA408061484 | AVP | c.314G>T (p.Cys105Phe) | gnomAD v4 |
20 | g.3082985C>G | CA408061485 | AVP | c.314G>C (p.Cys105Ser) | gnomAD v4 |
20 | g.3082985C>T | CA408061486 | AVP | c.314G>A (p.Cys105Tyr) | gnomAD v4 |
20 | g.3082986A>C | CA408061487 | AVP | c.313T>G (p.Cys105Gly) | |
20 | g.3082986A>G | CA408061488 | AVP | c.313T>C (p.Cys105Arg) | gnomAD v4 |
20 | g.3082986A>T | CA408061489 | AVP | c.313T>A (p.Cys105Ser) | |
20 | g.3082987G>A | CA509554621 | AVP | c.312C>T (p.Cys104=) | gnomAD v4 |
20 | g.3082987G>C | CA408061490 | AVP | c.312C>G (p.Cys104Trp) | |
20 | g.3082987G>T | CA408061491 | AVP | c.312C>A (p.Cys104Ter) | gnomAD v4 |
20 | g.3082988C>A | CA408061492 | AVP | c.311G>T (p.Cys104Phe) | gnomAD v4 |
20 | g.3082988C>G | CA408061493 | AVP | c.311G>C (p.Cys104Ser) | |
20 | g.3082988C>T | CA408061494 | AVP | c.311G>A (p.Cys104Tyr) | |
20 | g.3082989A>C | CA408061497 | AVP | c.310T>G (p.Cys104Gly) | |
20 | g.3082989A>G | CA408061495 | AVP | c.310T>C (p.Cys104Arg) | gnomAD v4 |
20 | g.3082989A>T | CA408061496 | AVP | c.310T>A (p.Cys104Ser) | |
20 | g.3082990A>C | CA509554622 | AVP | c.309T>G (p.Val103=) | |
20 | g.3082990A>G | CA509554623 | AVP | c.309T>C (p.Val103=) | gnomAD v4 |
20 | g.3082990A>T | CA509554624 | AVP | c.309T>A (p.Val103=) | |
20 | g.3082991A>C | CA408061498 | AVP | c.308T>G (p.Val103Gly) | |
20 | g.3082991A>G | CA408061499 | AVP | c.308T>C (p.Val103Ala) | gnomAD v4 |
20 | g.3082991A>T | CA408061500 | AVP | c.308T>A (p.Val103Asp) | |
20 | g.3082992C>A | CA408061501 | AVP | c.307G>T (p.Val103Phe) | dbSNP gnomAD v4 |
20 | g.3082992C= | CA2346405525 | AVP | c.307G= (p.Val103=) | |
20 | g.3082992C>G | CA408061502 | AVP | c.307G>C (p.Val103Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082992C>T | CA408061503 | AVP | c.307G>A (p.Val103Ile) | gnomAD v4 |
20 | g.3082993G>A | CA509554628 | AVP | c.306C>T (p.Gly102=) | gnomAD v4 |
20 | g.3082993G>C | CA509554629 | AVP | c.306C>G (p.Gly102=) | |
20 | g.3082993G>T | CA509554630 | AVP | c.306C>A (p.Gly102=) | gnomAD v4 |
20 | g.3082994C>A | CA408061504 | AVP | c.305G>T (p.Gly102Val) | gnomAD v4 |
20 | g.3082994C>G | CA408061505 | AVP | c.305G>C (p.Gly102Ala) | dbSNP |