Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3083041C>A | CA408061597 | AVP | c.258G>T (p.Gln86His) | gnomAD v4 |
20 | g.3083041C>G | CA408061598 | AVP | c.258G>C (p.Gln86His) | |
20 | g.3083041C>T | CA509554649 | AVP | c.258G>A (p.Gln86=) | gnomAD v4 |
20 | g.3083042T>A | CA408061599 | AVP | c.257A>T (p.Gln86Leu) | |
20 | g.3083042T>C | CA408061600 | AVP | c.257A>G (p.Gln86Arg) | gnomAD v4 |
20 | g.3083042T>G | CA408061601 | AVP | c.257A>C (p.Gln86Pro) | |
20 | g.3083043G>A | CA408061604 | AVP | c.256C>T (p.Gln86Ter) | gnomAD v4 |
20 | g.3083043G>C | CA408061603 | AVP | c.256C>G (p.Gln86Glu) | |
20 | g.3083043G>T | CA408061602 | AVP | c.256C>A (p.Gln86Lys) | gnomAD v4 |
20 | g.3083044G>A | CA509554651 | AVP | c.255C>T (p.Cys85=) | gnomAD v4 |
20 | g.3083044G>C | CA408061605 | AVP | c.255C>G (p.Cys85Trp) | gnomAD v4 |
20 | g.3083044G>T | CA408061606 | AVP | c.255C>A (p.Cys85Ter) | gnomAD v4 |
20 | g.3083045C>A | CA408061607 | AVP | c.254G>T (p.Cys85Phe) | gnomAD v4 |
20 | g.3083045C>G | CA408061608 | AVP | c.254G>C (p.Cys85Ser) | |
20 | g.3083045C>T | CA408061609 | AVP | c.254G>A (p.Cys85Tyr) | gnomAD v4 |
20 | g.3083046A>C | CA408061610 | AVP | c.253T>G (p.Cys85Gly) | |
20 | g.3083046A>G | CA408061611 | AVP | c.253T>C (p.Cys85Arg) | gnomAD v4 |
20 | g.3083046A>T | CA408061612 | AVP | c.253T>A (p.Cys85Ser) | |
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 |