Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3083047G>A | CA509554655 | AVP | c.252C>T (p.Pro84=) | gnomAD v4 |
20 | g.3083047G>C | CA9739451 | AVP | c.252C>G (p.Pro84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083047G= | CA2346405556 | AVP | c.252C= (p.Pro84=) | |
20 | g.3083047G>T | CA509554658 | AVP | c.252C>A (p.Pro84=) | gnomAD v4 |
20 | g.3083048G>A | CA408061613 | AVP | c.251C>T (p.Pro84Leu) | gnomAD v4 |
20 | g.3083048G>C | CA408061614 | AVP | c.251C>G (p.Pro84Arg) | |
20 | g.3083048G>T | CA408061615 | AVP | c.251C>A (p.Pro84His) | gnomAD v4 |
20 | g.3083049G>A | CA408061618 | AVP | c.250C>T (p.Pro84Ser) | gnomAD v4 |
20 | g.3083049G>C | CA408061617 | AVP | c.250C>G (p.Pro84Ala) | |
20 | g.3083049G>T | CA408061616 | AVP | c.250C>A (p.Pro84Thr) | gnomAD v4 |
20 | g.3083050C>A | CA9739452 | AVP | c.249G>T (p.Ser83=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083050C= | CA2346405557 | AVP | c.249G= (p.Ser83=) | |
20 | g.3083050C>G | CA509554663 | AVP | c.249G>C (p.Ser83=) | |
20 | g.3083050C>T | CA509554662 | AVP | c.249G>A (p.Ser83=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083051G>A | CA408061621 | AVP | c.248C>T (p.Ser83Leu) | gnomAD v4 |
20 | g.3083051G>C | CA408061619 | AVP | c.248C>G (p.Ser83Trp) | gnomAD v4 |
20 | g.3083051G>T | CA408061620 | AVP | c.248C>A (p.Ser83Ter) | gnomAD v4 |
20 | g.3083052A>C | CA408061622 | AVP | c.247T>G (p.Ser83Ala) | |
20 | g.3083052A>G | CA408061623 | AVP | c.247T>C (p.Ser83Pro) | gnomAD v4 |
20 | g.3083052A>T | CA408061624 | AVP | c.247T>A (p.Ser83Thr) | |
20 | g.3083053C>A | CA509554669 | AVP | c.246G>T (p.Pro82=) | gnomAD v4 |
20 | g.3083053C>G | CA509554667 | AVP | c.246G>C (p.Pro82=) | gnomAD v4 |
20 | g.3083053C>T | CA509554665 | AVP | c.246G>A (p.Pro82=) | gnomAD v4 |
20 | g.3083054G>A | CA9739453 | AVP | c.245C>T (p.Pro82Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083054G>C | CA408061625 | AVP | c.245C>G (p.Pro82Arg) | gnomAD v4 |
20 | g.3083054G= | CA2346405558 | AVP | c.245C= (p.Pro82=) | |
20 | g.3083054G>T | CA408061626 | AVP | c.245C>A (p.Pro82Gln) | gnomAD v4 |
20 | g.3083055G>A | CA408061627 | AVP | c.244C>T (p.Pro82Ser) | dbSNP gnomAD v4 |
20 | g.3083055G>C | CA408061628 | AVP | c.244C>G (p.Pro82Ala) | |
20 | g.3083055G= | CA2346405559 | AVP | c.244C= (p.Pro82=) | |
20 | g.3083055G>T | CA408061629 | AVP | c.244C>A (p.Pro82Thr) | gnomAD v4 |
20 | g.3083056C>A | CA509554671 | AVP | c.243G>T (p.Leu81=) | gnomAD v4 |
20 | g.3083056C>G | CA509554673 | AVP | c.243G>C (p.Leu81=) | |
20 | g.3083056C>T | CA509554672 | AVP | c.243G>A (p.Leu81=) | |
20 | g.3083057del | CA2651674845 | AVP | c.242del (p.Leu81ArgfsTer?) | gnomAD v4 |
20 | g.3083057A>C | CA408061632 | AVP | c.242T>G (p.Leu81Arg) | |
20 | g.3083057A>G | CA408061631 | AVP | c.242T>C (p.Leu81Pro) | gnomAD v4 |
20 | g.3083057A>T | CA408061630 | AVP | c.242T>A (p.Leu81Gln) | |
20 | g.3083058G>A | CA509554675 | AVP | c.241C>T (p.Leu81=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083058G>C | CA408061633 | AVP | c.241C>G (p.Leu81Val) | dbSNP |
20 | g.3083058G= | CA2346405560 | AVP | c.241C= (p.Leu81=) | |
20 | g.3083058G>T | CA408061634 | AVP | c.241C>A (p.Leu81Met) | gnomAD v4 |
20 | g.3083059G>A | CA509554676 | AVP | c.240C>T (p.Tyr80=) | ClinVar dbSNP |
20 | g.3083059G>C | CA408061635 | AVP | c.240C>G (p.Tyr80Ter) | |
20 | g.3083059G= | CA2346405561 | AVP | c.240C= (p.Tyr80=) | |
20 | g.3083059G>T | CA408061636 | AVP | c.240C>A (p.Tyr80Ter) | gnomAD v4 |
20 | g.3083060T>A | CA408061637 | AVP | c.239A>T (p.Tyr80Phe) | |
20 | g.3083060T>C | CA408061638 | AVP | c.239A>G (p.Tyr80Cys) | gnomAD v4 |
20 | g.3083060T>G | CA408061639 | AVP | c.239A>C (p.Tyr80Ser) | dbSNP gnomAD v4 |
20 | g.3083061A>C | CA408061640 | AVP | c.238T>G (p.Tyr80Asp) |