| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.78304742C>A | CA373871990 | PSAT1 | c.199C>A (p.Pro67Thr) | |
| 9 | g.78304742C= | CA1857665691 | PSAT1 | c.199C= (p.Pro67=) | |
| 9 | g.78304742C>G | CA373871991 | PSAT1 | c.199C>G (p.Pro67Ala) | dbSNP |
| 9 | g.78304742C>T | CA373871992 | PSAT1 | c.199C>T (p.Pro67Ser) | |
| 9 | g.78304743C>A | CA373871993 | PSAT1 | c.200C>A (p.Pro67Gln) | |
| 9 | g.78304743C= | CA1857665692 | PSAT1 | c.200C= (p.Pro67=) | |
| 9 | g.78304743C>G | CA373871994 | PSAT1 | c.200C>G (p.Pro67Arg) | |
| 9 | g.78304743C>T | CA5095562 | PSAT1 | c.200C>T (p.Pro67Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304744A>C | CA465542877 | PSAT1 | c.201A>C (p.Pro67=) | |
| 9 | g.78304744A>G | CA465542878 | PSAT1 | c.201A>G (p.Pro67=) | |
| 9 | g.78304744A>T | CA465542879 | PSAT1 | c.201A>T (p.Pro67=) | |
| 9 | g.78304745G>A | CA373871997 | PSAT1 | c.202G>A (p.Asp68Asn) | |
| 9 | g.78304745G>C | CA373871995 | PSAT1 | c.202G>C (p.Asp68His) | |
| 9 | g.78304745G>T | CA373871996 | PSAT1 | c.202G>T (p.Asp68Tyr) | |
| 9 | g.78304746A= | CA1857665693 | PSAT1 | c.203A= (p.Asp68=) | |
| 9 | g.78304746A>C | CA373871998 | PSAT1 | c.203A>C (p.Asp68Ala) | |
| 9 | g.78304746A>G | CA5095563 | PSAT1 | c.203A>G (p.Asp68Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304746A>T | CA373871999 | PSAT1 | c.203A>T (p.Asp68Val) | |
| 9 | g.78304747C>A | CA373872000 | PSAT1 | c.204C>A (p.Asp68Glu) | gnomAD v4 |
| 9 | g.78304747C>G | CA373872001 | PSAT1 | c.204C>G (p.Asp68Glu) | |
| 9 | g.78304747C>T | CA465542883 | PSAT1 | c.204C>T (p.Asp68=) | |
| 9 | g.78304748A>C | CA373872002 | PSAT1 | c.205A>C (p.Asn69His) | |
| 9 | g.78304748A>G | CA373872003 | PSAT1 | c.205A>G (p.Asn69Asp) | |
| 9 | g.78304748A>T | CA373872004 | PSAT1 | c.205A>T (p.Asn69Tyr) | |
| 9 | g.78304749A>C | CA373872005 | PSAT1 | c.206A>C (p.Asn69Thr) | |
| 9 | g.78304749A>G | CA373872006 | PSAT1 | c.206A>G (p.Asn69Ser) | gnomAD v4 |
| 9 | g.78304749A>T | CA373872007 | PSAT1 | c.206A>T (p.Asn69Ile) | |
| 9 | g.78304750C>A | CA373872008 | PSAT1 | c.207C>A (p.Asn69Lys) | |
| 9 | g.78304750C>G | CA373872009 | PSAT1 | c.207C>G (p.Asn69Lys) | |
| 9 | g.78304750C>T | CA465542885 | PSAT1 | c.207C>T (p.Asn69=) | |
| 9 | g.78304751T>A | CA373872012 | PSAT1 | c.208T>A (p.Tyr70Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304751T>C | CA373872011 | PSAT1 | c.208T>C (p.Tyr70His) | |
| 9 | g.78304751T>G | CA373872010 | PSAT1 | c.208T>G (p.Tyr70Asp) | |
| 9 | g.78304751T= | CA1857665694 | PSAT1 | c.208T= (p.Tyr70=) | |
| 9 | g.78304753_78304754del | CA2690397187 | PSAT1 | c.210_211del (p.Tyr70Ter) | gnomAD v4 |
| 9 | g.78304752A= | CA1857665695 | PSAT1 | c.209A= (p.Tyr70=) | |
| 9 | g.78304752A>C | CA5095564 | PSAT1 | c.209A>C (p.Tyr70Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304752A>G | CA194440925 | PSAT1 | c.209A>G (p.Tyr70Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304752A>T | CA373872013 | PSAT1 | c.209A>T (p.Tyr70Phe) | |
| 9 | g.78304753T>A | CA373872014 | PSAT1 | c.210T>A (p.Tyr70Ter) | |
| 9 | g.78304753T>C | CA465542898 | PSAT1 | c.210T>C (p.Tyr70=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304753T>G | CA373872015 | PSAT1 | c.210T>G (p.Tyr70Ter) | |
| 9 | g.78304753T= | CA1857665696 | PSAT1 | c.210T= (p.Tyr70=) | |
| 9 | g.78304754A= | CA1857665697 | PSAT1 | c.211A= (p.Lys71=) | |
| 9 | g.78304754A>C | CA373872016 | PSAT1 | c.211A>C (p.Lys71Gln) | |
| 9 | g.78304754A>G | CA373872017 | PSAT1 | c.211A>G (p.Lys71Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304754A>T | CA373872018 | PSAT1 | c.211A>T (p.Lys71Ter) | gnomAD v4 |
| 9 | g.78304755A>C | CA373872019 | PSAT1 | c.212A>C (p.Lys71Thr) | |
| 9 | g.78304755A>G | CA373872020 | PSAT1 | c.212A>G (p.Lys71Arg) | |
| 9 | g.78304755A>T | CA373872021 | PSAT1 | c.212A>T (p.Lys71Met) |