| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.78300648del | CA114738 | PSAT1 | c.107del (p.Gly36AlafsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78300648G>A | CA373871572 | PSAT1 | c.107G>A (p.Gly36Asp) | ClinVar dbSNP gnomAD v2 |
| 9 | g.78300648G>C | CA373871571 | PSAT1 | c.107G>C (p.Gly36Ala) | |
| 9 | g.78300648G= | CA1857663825 | PSAT1 | c.107G= (p.Gly36=) | |
| 9 | g.78300648G>T | CA373871573 | PSAT1 | c.107G>T (p.Gly36Val) | |
| 9 | g.78300649C>A | CA465542748 | PSAT1 | c.108C>A (p.Gly36=) | |
| 9 | g.78300649C= | CA1857663826 | PSAT1 | c.108C= (p.Gly36=) | |
| 9 | g.78300649C>G | CA465542747 | PSAT1 | c.108C>G (p.Gly36=) | |
| 9 | g.78300649C>T | CA465542746 | PSAT1 | c.108C>T (p.Gly36=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78300650A= | CA1857663827 | PSAT1 | c.109A= (p.Ile37=) | |
| 9 | g.78300650A>C | CA373871576 | PSAT1 | c.109A>C (p.Ile37Leu) | |
| 9 | g.78300650A>G | CA5095505 | PSAT1 | c.109A>G (p.Ile37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78300650A>T | CA373871575 | PSAT1 | c.109A>T (p.Ile37Phe) | |
| 9 | g.78300651T>A | CA373871577 | PSAT1 | c.110T>A (p.Ile37Asn) | |
| 9 | g.78300651T>C | CA373871578 | PSAT1 | c.110T>C (p.Ile37Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78300651T>G | CA373871579 | PSAT1 | c.110T>G (p.Ile37Ser) | |
| 9 | g.78300651T= | CA1857663828 | PSAT1 | c.110T= (p.Ile37=) | |
| 9 | g.78300652T>A | CA465542749 | PSAT1 | c.111T>A (p.Ile37=) | |
| 9 | g.78300652T>C | CA465542750 | PSAT1 | c.111T>C (p.Ile37=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78300652T>G | CA373871580 | PSAT1 | c.111T>G (p.Ile37Met) | |
| 9 | g.78300652T= | CA1857663829 | PSAT1 | c.111T= (p.Ile37=) | |
| 9 | g.78300653A>C | CA373871582 | PSAT1 | c.112A>C (p.Ser38Arg) | |
| 9 | g.78300653A>G | CA373871584 | PSAT1 | c.112A>G (p.Ser38Gly) | |
| 9 | g.78300653A>T | CA373871585 | PSAT1 | c.112A>T (p.Ser38Cys) | |
| 9 | g.78300654G>A | CA373871587 | PSAT1 | c.113G>A (p.Ser38Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78300654G>C | CA373871588 | PSAT1 | c.113G>C (p.Ser38Thr) | |
| 9 | g.78300654G= | CA1857663830 | PSAT1 | c.113G= (p.Ser38=) | |
| 9 | g.78300654G>T | CA373871589 | PSAT1 | c.113G>T (p.Ser38Ile) | gnomAD v4 |
| 9 | g.78300654_78300655insCTG | CA2690396786 | PSAT1 | c.113_114insCTG (p.Ser38_Val39insCys) | gnomAD v4 |
| 9 | g.78300655T>A | CA373871596 | PSAT1 | c.114T>A (p.Ser38Arg) | dbSNP gnomAD v2 |
| 9 | g.78300655T>C | CA465542751 | PSAT1 | c.114T>C (p.Ser38=) | |
| 9 | g.78300655T>G | CA373871591 | PSAT1 | c.114T>G (p.Ser38Arg) | |
| 9 | g.78300655T= | CA1857663831 | PSAT1 | c.114T= (p.Ser38=) | |
| 9 | g.78300656G>A | CA373871598 | PSAT1 | c.115G>A (p.Val39Ile) | |
| 9 | g.78300656G>C | CA373871600 | PSAT1 | c.115G>C (p.Val39Leu) | |
| 9 | g.78300656G>T | CA373871609 | PSAT1 | c.115G>T (p.Val39Phe) | gnomAD v4 |
| 9 | g.78300657T>A | CA373871611 | PSAT1 | c.116T>A (p.Val39Asp) | |
| 9 | g.78300657T>C | CA373871612 | PSAT1 | c.116T>C (p.Val39Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78300657T>G | CA373871613 | PSAT1 | c.116T>G (p.Val39Gly) | |
| 9 | g.78300657T= | CA1857663832 | PSAT1 | c.116T= (p.Val39=) | |
| 9 | g.78300658T>A | CA465542752 | PSAT1 | c.117T>A (p.Val39=) | |
| 9 | g.78300658T>C | CA465542753 | PSAT1 | c.117T>C (p.Val39=) | |
| 9 | g.78300658T>G | CA465542754 | PSAT1 | c.117T>G (p.Val39=) | |
| 9 | g.78300659C>A | CA373871614 | PSAT1 | c.118C>A (p.Leu40Ile) | |
| 9 | g.78300659C>G | CA373871615 | PSAT1 | c.118C>G (p.Leu40Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78300659C>T | CA373871616 | PSAT1 | c.118C>T (p.Leu40Phe) | dbSNP gnomAD v4 |
| 9 | g.78300660T>A | CA373871617 | PSAT1 | c.119T>A (p.Leu40His) | |
| 9 | g.78300660T>C | CA373871618 | PSAT1 | c.119T>C (p.Leu40Pro) | gnomAD v4 |
| 9 | g.78300660T>G | CA373871619 | PSAT1 | c.119T>G (p.Leu40Arg) | |
| 9 | g.78300661T>A | CA465542755 | PSAT1 | c.120T>A (p.Leu40=) |