UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.78304740T>A | CA373871987 | PSAT1 | c.197T>A (p.Val66Asp) | |
| 9 | g.78304740T>C | CA373871988 | PSAT1 | c.197T>C (p.Val66Ala) | |
| 9 | g.78304740T>G | CA373871989 | PSAT1 | c.197T>G (p.Val66Gly) | |
| 9 | g.78304741T>A | CA465542873 | PSAT1 | c.198T>A (p.Val66=) | ClinVar dbSNP |
| 9 | g.78304741T>C | CA465542874 | PSAT1 | c.198T>C (p.Val66=) | |
| 9 | g.78304741T>G | CA465542875 | PSAT1 | c.198T>G (p.Val66=) | |
| 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) | |
| 9 | g.78304756G>A | CA465542899 | PSAT1 | c.213G>A (p.Lys71=) | gnomAD v4 |
| 9 | g.78304756G>C | CA373872022 | PSAT1 | c.213G>C (p.Lys71Asn) | ClinVar dbSNP |
| 9 | g.78304756G= | CA1857665698 | PSAT1 | c.213G= (p.Lys71=) | |
| 9 | g.78304756G>T | CA5095565 | PSAT1 | c.213G>T (p.Lys71Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304757G>A | CA373872025 | PSAT1 | c.214G>A (p.Val72Met) | gnomAD v4 |
| 9 | g.78304757G>C | CA373872024 | PSAT1 | c.214G>C (p.Val72Leu) | |
| 9 | g.78304757G>T | CA373872023 | PSAT1 | c.214G>T (p.Val72Leu) | |
| 9 | g.78304758T>A | CA373872026 | PSAT1 | c.215T>A (p.Val72Glu) | |
| 9 | g.78304758T>C | CA373872028 | PSAT1 | c.215T>C (p.Val72Ala) | |
| 9 | g.78304758T>G | CA373872027 | PSAT1 | c.215T>G (p.Val72Gly) | |
| 9 | g.78304759G>A | CA465542902 | PSAT1 | c.216G>A (p.Val72=) | |
| 9 | g.78304759G>C | CA465542900 | PSAT1 | c.216G>C (p.Val72=) | |
| 9 | g.78304759G>T | CA465542901 | PSAT1 | c.216G>T (p.Val72=) | |
| 9 | g.78304760A>C | CA373872029 | PSAT1 | c.217A>C (p.Ile73Leu) | |
| 9 | g.78304760A>G | CA373872030 | PSAT1 | c.217A>G (p.Ile73Val) | |
| 9 | g.78304760A>T | CA373872031 | PSAT1 | c.217A>T (p.Ile73Phe) | |
| 9 | g.78304761T>A | CA373872032 | PSAT1 | c.218T>A (p.Ile73Asn) | |
| 9 | g.78304761T>C | CA373872033 | PSAT1 | c.218T>C (p.Ile73Thr) | |
| 9 | g.78304761T>G | CA373872034 | PSAT1 | c.218T>G (p.Ile73Ser) | |
| 9 | g.78304765dup | CA465542903 | PSAT1 | c.222dup (p.Leu75SerfsTer26) | COSMIC |
| 9 | g.78304762T>A | CA465542905 | PSAT1 | c.219T>A (p.Ile73=) | |
| 9 | g.78304762T>C | CA465542904 | PSAT1 | c.219T>C (p.Ile73=) | |
| 9 | g.78304762T>G | CA373872035 | PSAT1 | c.219T>G (p.Ile73Met) | |
| 9 | g.78304763T>A | CA373872036 | PSAT1 | c.220T>A (p.Phe74Ile) | |
| 9 | g.78304763T>C | CA373872037 | PSAT1 | c.220T>C (p.Phe74Leu) | |
| 9 | g.78304763T>G | CA373872038 | PSAT1 | c.220T>G (p.Phe74Val) | |
| 9 | g.78304764T>A | CA373872039 | PSAT1 | c.221T>A (p.Phe74Tyr) | |
| 9 | g.78304764T>C | CA373872040 | PSAT1 | c.221T>C (p.Phe74Ser) | |
| 9 | g.78304764T>G | CA373872041 | PSAT1 | c.221T>G (p.Phe74Cys) | |
| 9 | g.78304765T>A | CA373872042 | PSAT1 | c.222T>A (p.Phe74Leu) | |
| 9 | g.78304765T>C | CA465542906 | PSAT1 | c.222T>C (p.Phe74=) | |
| 9 | g.78304765T>G | CA373872043 | PSAT1 | c.222T>G (p.Phe74Leu) | gnomAD v4 |
| 9 | g.78304766C>A | CA373872044 | PSAT1 | c.223C>A (p.Leu75Met) | |
| 9 | g.78304766C>G | CA373872045 | PSAT1 | c.223C>G (p.Leu75Val) | |
| 9 | g.78304766C>T | CA465542907 | PSAT1 | c.223C>T (p.Leu75=) | gnomAD v4 |
| 9 | g.78304767T>A | CA373872047 | PSAT1 | c.224T>A (p.Leu75Gln) | |
| 9 | g.78304767T>C | CA373872048 | PSAT1 | c.224T>C (p.Leu75Pro) | |
| 9 | g.78304767T>G | CA373872050 | PSAT1 | c.224T>G (p.Leu75Arg) | |
| 9 | g.78304768G>A | CA465542908 | PSAT1 | c.225G>A (p.Leu75=) | |
| 9 | g.78304768G>C | CA465542909 | PSAT1 | c.225G>C (p.Leu75=) | |
| 9 | g.78304768G= | CA1857665699 | PSAT1 | c.225G= (p.Leu75=) | |
| 9 | g.78304768G>T | CA194440941 | PSAT1 | c.225G>T (p.Leu75=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304769C>A | CA373872052 | PSAT1 | c.226C>A (p.Gln76Lys) | |
| 9 | g.78304769C= | CA1857665700 | PSAT1 | c.226C= (p.Gln76=) | |
| 9 | g.78304769C>G | CA373872054 | PSAT1 | c.226C>G (p.Gln76Glu) | |
| 9 | g.78304769C>T | CA373872055 | PSAT1 | c.226C>T (p.Gln76Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304770A>C | CA373872057 | PSAT1 | c.227A>C (p.Gln76Pro) | |
| 9 | g.78304770A>G | CA373872059 | PSAT1 | c.227A>G (p.Gln76Arg) | |
| 9 | g.78304770A>T | CA373872060 | PSAT1 | c.227A>T (p.Gln76Leu) | |
| 9 | g.78304771del | CA2580080607 | PSAT1 | c.228del (p.Gly77GlufsTer12) | ClinVar |
| 9 | g.78304771A>C | CA373872064 | PSAT1 | c.228A>C (p.Gln76His) | |
| 9 | g.78304771A>G | CA465542912 | PSAT1 | c.228A>G (p.Gln76=) | |
| 9 | g.78304771A>T | CA373872062 | PSAT1 | c.228A>T (p.Gln76His) | |
| 9 | g.78304772G>A | CA373872065 | PSAT1 | c.229G>A (p.Gly77Arg) | |
| 9 | g.78304772G>C | CA373872067 | PSAT1 | c.229G>C (p.Gly77Arg) | |
| 9 | g.78304772G>T | CA373872068 | PSAT1 | c.229G>T (p.Gly77Ter) | |
| 9 | g.78304773G>A | CA373872070 | PSAT1 | c.230G>A (p.Gly77Glu) | gnomAD v4 |
| 9 | g.78304773G>C | CA373872071 | PSAT1 | c.230G>C (p.Gly77Ala) | |
| 9 | g.78304773G>T | CA373872073 | PSAT1 | c.230G>T (p.Gly77Val) | |
| 9 | g.78304774A= | CA1857665701 | PSAT1 | c.231A= (p.Gly77=) | |
| 9 | g.78304774A>C | CA465542913 | PSAT1 | c.231A>C (p.Gly77=) | |
| 9 | g.78304774A>G | CA465542914 | PSAT1 | c.231A>G (p.Gly77=) | gnomAD v4 |
| 9 | g.78304774A>T | CA5095566 | PSAT1 | c.231A>T (p.Gly77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304775G>A | CA373872075 | PSAT1 | c.232G>A (p.Gly78Ser) | |
| 9 | g.78304775G>C | CA373872076 | PSAT1 | c.232G>C (p.Gly78Arg) | |
| 9 | g.78304775G>T | CA373872078 | PSAT1 | c.232G>T (p.Gly78Cys) | |
| 9 | g.78304776G>A | CA373872080 | PSAT1 | c.233G>A (p.Gly78Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304776G>C | CA373872081 | PSAT1 | c.233G>C (p.Gly78Ala) | ClinVar dbSNP |
| 9 | g.78304776G= | CA1857665702 | PSAT1 | c.233G= (p.Gly78=) | |
| 9 | g.78304776G>T | CA373872083 | PSAT1 | c.233G>T (p.Gly78Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78304777T>A | CA465542915 | PSAT1 | c.234T>A (p.Gly78=) | |
| 9 | g.78304777T>C | CA465542916 | PSAT1 | c.234T>C (p.Gly78=) | |
| 9 | g.78304777T>G | CA465542917 | PSAT1 | c.234T>G (p.Gly78=) | |
| 9 | g.78304778G>A | CA373872088 | PSAT1 | c.235G>A (p.Gly79Arg) | ClinVar dbSNP |
| 9 | g.78304778G>C | CA373872087 | PSAT1 | c.235G>C (p.Gly79Arg) | |
| 9 | g.78304778G= | CA1857665703 | PSAT1 | c.235G= (p.Gly79=) | |
| 9 | g.78304778G>T | CA373872086 | PSAT1 | c.235G>T (p.Gly79Trp) | |
| 9 | g.78304779G>A | CA373872090 | PSAT1 | c.236G>A (p.Gly79Glu) | |
| 9 | g.78304779G>C | CA373872092 | PSAT1 | c.236G>C (p.Gly79Ala) | |
| 9 | g.78304779G>T | CA373872095 | PSAT1 | c.236G>T (p.Gly79Val) | gnomAD v4 |
| 9 | g.78304780G>A | CA5095567 | PSAT1 | c.237G>A (p.Gly79=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304780G>C | CA465542918 | PSAT1 | c.237G>C (p.Gly79=) | |
| 9 | g.78304780G= | CA1857665704 | PSAT1 | c.237G= (p.Gly79=) | |
| 9 | g.78304780G>T | CA465542919 | PSAT1 | c.237G>T (p.Gly79=) | |
| 9 | g.78304781T>A | CA373872098 | PSAT1 | c.238T>A (p.Cys80Ser) | |
| 9 | g.78304781T>C | CA373872100 | PSAT1 | c.238T>C (p.Cys80Arg) | |
| 9 | g.78304781T>G | CA373872101 | PSAT1 | c.238T>G (p.Cys80Gly) | |
| 9 | g.78304782G>A | CA373872103 | PSAT1 | c.239G>A (p.Cys80Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.78304782G>C | CA373872107 | PSAT1 | c.239G>C (p.Cys80Ser) | |
| 9 | g.78304782G= | CA1857665705 | PSAT1 | c.239G= (p.Cys80=) | |
| 9 | g.78304782G>T | CA373872108 | PSAT1 | c.239G>T (p.Cys80Phe) | |
| 9 | g.78304783C>A | CA373872109 | PSAT1 | c.240C>A (p.Cys80Ter) | |
| 9 | g.78304783C= | CA1857665706 | PSAT1 | c.240C= (p.Cys80=) | |
| 9 | g.78304783C>G | CA373872110 | PSAT1 | c.240C>G (p.Cys80Trp) | |
| 9 | g.78304783C>T | CA5095568 | PSAT1 | c.240C>T (p.Cys80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304784G>A | CA5095569 | PSAT1 | c.241G>A (p.Gly81Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304784G>C | CA373872114 | PSAT1 | c.241G>C (p.Gly81Arg) | dbSNP gnomAD v4 |
| 9 | g.78304784G= | CA1857665707 | PSAT1 | c.241G= (p.Gly81=) | |
| 9 | g.78304784G>T | CA373872113 | PSAT1 | c.241G>T (p.Gly81Cys) | |
| 9 | g.78304785G>A | CA373872116 | PSAT1 | c.242G>A (p.Gly81Asp) | |
| 9 | g.78304785G>C | CA373872119 | PSAT1 | c.242G>C (p.Gly81Ala) | |
| 9 | g.78304785G>T | CA373872118 | PSAT1 | c.242G>T (p.Gly81Val) | |
| 9 | g.78304786C>A | CA465542920 | PSAT1 | c.243C>A (p.Gly81=) | |
| 9 | g.78304786C>G | CA465542921 | PSAT1 | c.243C>G (p.Gly81=) | |
| 9 | g.78304786C>T | CA465542922 | PSAT1 | c.243C>T (p.Gly81=) | |
| 9 | g.78304787C>A | CA373872121 | PSAT1 | c.244C>A (p.Gln82Lys) | |
| 9 | g.78304787C>G | CA373872124 | PSAT1 | c.244C>G (p.Gln82Glu) | |
| 9 | g.78304787C>T | CA373872123 | PSAT1 | c.244C>T (p.Gln82Ter) | |
| 9 | g.78304791_78304795dup | CA2690397188 | PSAT1 | c.248_252dup (p.Ala85SerfsTer6) | gnomAD v4 |
| 9 | g.78304788A>C | CA373872125 | PSAT1 | c.245A>C (p.Gln82Pro) | |
| 9 | g.78304788A>G | CA373872126 | PSAT1 | c.245A>G (p.Gln82Arg) | |
| 9 | g.78304788A>T | CA373872127 | PSAT1 | c.245A>T (p.Gln82Leu) | gnomAD v4 |
| 9 | g.78304789G>A | CA465542923 | PSAT1 | c.246G>A (p.Gln82=) | |
| 9 | g.78304789G>C | CA373872128 | PSAT1 | c.246G>C (p.Gln82His) | |
| 9 | g.78304789G>T | CA373872129 | PSAT1 | c.246G>T (p.Gln82His) | |
| 9 | g.78304790T>A | CA373872131 | PSAT1 | c.247T>A (p.Phe83Ile) | |
| 9 | g.78304790T>C | CA373872133 | PSAT1 | c.247T>C (p.Phe83Leu) | |
| 9 | g.78304790T>G | CA373872134 | PSAT1 | c.247T>G (p.Phe83Val) | |
| 9 | g.78304791T>A | CA373872136 | PSAT1 | c.248T>A (p.Phe83Tyr) | gnomAD v4 |
| 9 | g.78304791T>C | CA373872138 | PSAT1 | c.248T>C (p.Phe83Ser) | |
| 9 | g.78304791T>G | CA373872139 | PSAT1 | c.248T>G (p.Phe83Cys) | |
| 9 | g.78304792C>A | CA373872142 | PSAT1 | c.249C>A (p.Phe83Leu) | |
| 9 | g.78304792C>G | CA373872141 | PSAT1 | c.249C>G (p.Phe83Leu) | |
| 9 | g.78304792C>T | CA465542924 | PSAT1 | c.249C>T (p.Phe83=) | |
| 9 | g.78304793A>C | CA373872144 | PSAT1 | c.250A>C (p.Ser84Arg) | |
| 9 | g.78304793A>G | CA373872146 | PSAT1 | c.250A>G (p.Ser84Gly) | |
| 9 | g.78304793A>T | CA373872147 | PSAT1 | c.250A>T (p.Ser84Cys) | |
| 9 | g.78304794G>A | CA373872149 | PSAT1 | c.251G>A (p.Ser84Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304794G>C | CA373872150 | PSAT1 | c.251G>C (p.Ser84Thr) | |
| 9 | g.78304794G= | CA1857665708 | PSAT1 | c.251G= (p.Ser84=) | |
| 9 | g.78304794G>T | CA373872152 | PSAT1 | c.251G>T (p.Ser84Ile) | ClinVar dbSNP |
| 9 | g.78304795T>A | CA373872154 | PSAT1 | c.252T>A (p.Ser84Arg) | |
| 9 | g.78304795T>C | CA465542925 | PSAT1 | c.252T>C (p.Ser84=) | gnomAD v4 |
| 9 | g.78304795T>G | CA373872155 | PSAT1 | c.252T>G (p.Ser84Arg) | |
| 9 | g.78304796G>A | CA373872156 | PSAT1 | c.253G>A (p.Ala85Thr) | dbSNP |
| 9 | g.78304796G>C | CA373872158 | PSAT1 | c.253G>C (p.Ala85Pro) | COSMIC |
| 9 | g.78304796G= | CA1857665709 | PSAT1 | c.253G= (p.Ala85=) | |
| 9 | g.78304796G>T | CA373872160 | PSAT1 | c.253G>T (p.Ala85Ser) | |
| 9 | g.78304797C>A | CA373872164 | PSAT1 | c.254C>A (p.Ala85Asp) | |
| 9 | g.78304797C>G | CA373872163 | PSAT1 | c.254C>G (p.Ala85Gly) | |
| 9 | g.78304797C>T | CA373872162 | PSAT1 | c.254C>T (p.Ala85Val) | COSMIC |
| 9 | g.78304798T>A | CA465542929 | PSAT1 | c.255T>A (p.Ala85=) | |
| 9 | g.78304798T>C | CA465542927 | PSAT1 | c.255T>C (p.Ala85=) | |
| 9 | g.78304798T>G | CA465542928 | PSAT1 | c.255T>G (p.Ala85=) | |
| 9 | g.78304799G>A | CA373872166 | PSAT1 | c.256G>A (p.Val86Ile) | dbSNP gnomAD v4 |
| 9 | g.78304799G>C | CA373872168 | PSAT1 | c.256G>C (p.Val86Leu) | |
| 9 | g.78304799G= | CA1857665710 | PSAT1 | c.256G= (p.Val86=) | |
| 9 | g.78304799G>T | CA373872170 | PSAT1 | c.256G>T (p.Val86Phe) | |
| 9 | g.78304800T>A | CA373872171 | PSAT1 | c.257T>A (p.Val86Asp) | COSMIC |
| 9 | g.78304800T>C | CA373872172 | PSAT1 | c.257T>C (p.Val86Ala) | |
| 9 | g.78304800T>G | CA373872174 | PSAT1 | c.257T>G (p.Val86Gly) | |
| 9 | g.78304801C>A | CA465542930 | PSAT1 | c.258C>A (p.Val86=) | dbSNP |
| 9 | g.78304801C= | CA1857665711 | PSAT1 | c.258C= (p.Val86=) | |
| 9 | g.78304801C>G | CA465542931 | PSAT1 | c.258C>G (p.Val86=) | |
| 9 | g.78304801C>T | CA465542932 | PSAT1 | c.258C>T (p.Val86=) | |
| 9 | g.78304802C>A | CA373872176 | PSAT1 | c.259C>A (p.Pro87Thr) | |
| 9 | g.78304802C= | CA1857665712 | PSAT1 | c.259C= (p.Pro87=) | |
| 9 | g.78304802C>G | CA194440995 | PSAT1 | c.259C>G (p.Pro87Ala) | dbSNP |
| 9 | g.78304802C>T | CA373872178 | PSAT1 | c.259C>T (p.Pro87Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304803C>A | CA373872179 | PSAT1 | c.260C>A (p.Pro87His) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78304803C= | CA1857665713 | PSAT1 | c.260C= (p.Pro87=) | |
| 9 | g.78304803C>G | CA373872180 | PSAT1 | c.260C>G (p.Pro87Arg) | |
| 9 | g.78304803C>T | CA5095570 | PSAT1 | c.260C>T (p.Pro87Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304804C>A | CA465542934 | PSAT1 | c.261C>A (p.Pro87=) | |
| 9 | g.78304804C= | CA1857665714 | PSAT1 | c.261C= (p.Pro87=) | |
| 9 | g.78304804C>G | CA465542933 | PSAT1 | c.261C>G (p.Pro87=) | |
| 9 | g.78304804C>T | CA194440997 | PSAT1 | c.261C>T (p.Pro87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304805T>A | CA373872185 | PSAT1 | c.262T>A (p.Leu88Ile) | |
| 9 | g.78304805T>C | CA465542935 | PSAT1 | c.262T>C (p.Leu88=) | |
| 9 | g.78304805T>G | CA373872183 | PSAT1 | c.262T>G (p.Leu88Val) | dbSNP |
| 9 | g.78304805T= | CA1857665715 | PSAT1 | c.262T= (p.Leu88=) | |
| 9 | g.78304806T>A | CA373872186 | PSAT1 | c.263T>A (p.Leu88Ter) | |
| 9 | g.78304806T>C | CA373872188 | PSAT1 | c.263T>C (p.Leu88Ser) | |
| 9 | g.78304806T>G | CA373872190 | PSAT1 | c.263T>G (p.Leu88Ter) | |
| 9 | g.78304807A>C | CA373872192 | PSAT1 | c.264A>C (p.Leu88Phe) | gnomAD v4 |
| 9 | g.78304807A>G | CA465542936 | PSAT1 | c.264A>G (p.Leu88=) | |
| 9 | g.78304807A>T | CA373872193 | PSAT1 | c.264A>T (p.Leu88Phe) | |
| 9 | g.78304808A>C | CA373872196 | PSAT1 | c.265A>C (p.Asn89His) | |
| 9 | g.78304808A>G | CA373872198 | PSAT1 | c.265A>G (p.Asn89Asp) | |
| 9 | g.78304808A>T | CA373872199 | PSAT1 | c.265A>T (p.Asn89Tyr) | |
| 9 | g.78304809A>C | CA373872201 | PSAT1 | c.266A>C (p.Asn89Thr) | |
| 9 | g.78304809A>G | CA373872203 | PSAT1 | c.266A>G (p.Asn89Ser) | |
| 9 | g.78304809A>T | CA373872204 | PSAT1 | c.266A>T (p.Asn89Ile) | |
| 9 | g.78304810C>A | CA373872205 | PSAT1 | c.267C>A (p.Asn89Lys) | |
| 9 | g.78304810C= | CA1857665716 | PSAT1 | c.267C= (p.Asn89=) | |
| 9 | g.78304810C>G | CA373872207 | PSAT1 | c.267C>G (p.Asn89Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.78304810C>T | CA465542938 | PSAT1 | c.267C>T (p.Asn89=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304811C>A | CA373872211 | PSAT1 | c.268C>A (p.Leu90Ile) | |
| 9 | g.78304811C>G | CA373872212 | PSAT1 | c.268C>G (p.Leu90Val) | |
| 9 | g.78304811C>T | CA373872209 | PSAT1 | c.268C>T (p.Leu90Phe) | |
| 9 | g.78304812T>A | CA373872216 | PSAT1 | c.269T>A (p.Leu90His) | |
| 9 | g.78304812T>C | CA373872214 | PSAT1 | c.269T>C (p.Leu90Pro) | |
| 9 | g.78304812T>G | CA373872215 | PSAT1 | c.269T>G (p.Leu90Arg) | |
| 9 | g.78304813C>A | CA465542939 | PSAT1 | c.270C>A (p.Leu90=) | |
| 9 | g.78304813C= | CA1857665717 | PSAT1 | c.270C= (p.Leu90=) | |
| 9 | g.78304813C>G | CA465542940 | PSAT1 | c.270C>G (p.Leu90=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78304813C>T | CA5095571 | PSAT1 | c.270C>T (p.Leu90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304814A>C | CA373872218 | PSAT1 | c.271A>C (p.Ile91Leu) | |
| 9 | g.78304814A>G | CA373872221 | PSAT1 | c.271A>G (p.Ile91Val) | |
| 9 | g.78304814A>T | CA373872223 | PSAT1 | c.271A>T (p.Ile91Phe) | |
| 9 | g.78304815T>A | CA373872224 | PSAT1 | c.272T>A (p.Ile91Asn) | |
| 9 | g.78304815T>C | CA194441003 | PSAT1 | c.272T>C (p.Ile91Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304815T>G | CA373872227 | PSAT1 | c.272T>G (p.Ile91Ser) | |
| 9 | g.78304815T= | CA1857665718 | PSAT1 | c.272T= (p.Ile91=) | |
| 9 | g.78304816T>A | CA465542941 | PSAT1 | c.273T>A (p.Ile91=) | |
| 9 | g.78304816T>C | CA465542942 | PSAT1 | c.273T>C (p.Ile91=) | |
| 9 | g.78304816T>G | CA373872228 | PSAT1 | c.273T>G (p.Ile91Met) | |
| 9 | g.78304817G>A | CA373872229 | PSAT1 | c.274G>A (p.Gly92Ser) | |
| 9 | g.78304817G>C | CA373872231 | PSAT1 | c.274G>C (p.Gly92Arg) | |
| 9 | g.78304817G>T | CA373872232 | PSAT1 | c.274G>T (p.Gly92Cys) | |
| 9 | g.78304818G>A | CA373872233 | PSAT1 | c.275G>A (p.Gly92Asp) | gnomAD v4 |
| 9 | g.78304818G>C | CA373872236 | PSAT1 | c.275G>C (p.Gly92Ala) | |
| 9 | g.78304818G>T | CA373872234 | PSAT1 | c.275G>T (p.Gly92Val) | |
| 9 | g.78304819C>A | CA465542943 | PSAT1 | c.276C>A (p.Gly92=) | |
| 9 | g.78304819C= | CA1857665719 | PSAT1 | c.276C= (p.Gly92=) | |
| 9 | g.78304819C>G | CA5095572 | PSAT1 | c.276C>G (p.Gly92=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304819C>T | CA465542944 | PSAT1 | c.276C>T (p.Gly92=) | |
| 9 | g.78304820T>A | CA373872238 | PSAT1 | c.277T>A (p.Leu93Met) | COSMIC |
| 9 | g.78304820T>C | CA465542945 | PSAT1 | c.277T>C (p.Leu93=) | |
| 9 | g.78304820T>G | CA373872239 | PSAT1 | c.277T>G (p.Leu93Val) | |
| 9 | g.78304821T>A | CA373872241 | PSAT1 | c.278T>A (p.Leu93Ter) | |
| 9 | g.78304821T>C | CA373872243 | PSAT1 | c.278T>C (p.Leu93Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.78304821T>G | CA373872245 | PSAT1 | c.278T>G (p.Leu93Trp) | gnomAD v4 |
| 9 | g.78304821T= | CA1857665720 | PSAT1 | c.278T= (p.Leu93=) | |
| 9 | g.78304822G>A | CA465542946 | PSAT1 | c.279G>A (p.Leu93=) | |
| 9 | g.78304822G>C | CA373872246 | PSAT1 | c.279G>C (p.Leu93Phe) | |
| 9 | g.78304822G>T | CA373872247 | PSAT1 | c.279G>T (p.Leu93Phe) | |
| 9 | g.78304823A>C | CA373872249 | PSAT1 | c.280A>C (p.Lys94Gln) | |
| 9 | g.78304823A>G | CA194441026 | PSAT1 | c.280A>G (p.Lys94Glu) | COSMIC |
| 9 | g.78304823A>T | CA373872252 | PSAT1 | c.280A>T (p.Lys94Ter) | |
| 9 | g.78304824A>C | CA373872255 | PSAT1 | c.281A>C (p.Lys94Thr) | |
| 9 | g.78304824A>G | CA373872256 | PSAT1 | c.281A>G (p.Lys94Arg) | |
| 9 | g.78304824A>T | CA373872253 | PSAT1 | c.281A>T (p.Lys94Ile) | |
| 9 | g.78304825A>C | CA373872258 | PSAT1 | c.282A>C (p.Lys94Asn) | |
| 9 | g.78304825A>G | CA465542947 | PSAT1 | c.282A>G (p.Lys94=) | gnomAD v4 |
| 9 | g.78304825A>T | CA373872259 | PSAT1 | c.282A>T (p.Lys94Asn) | |
| 9 | g.78304826G>A | CA373872260 | PSAT1 | c.283G>A (p.Ala95Thr) | dbSNP gnomAD v4 |
| 9 | g.78304826G>C | CA373872262 | PSAT1 | c.283G>C (p.Ala95Pro) | |
| 9 | g.78304826G>T | CA373872264 | PSAT1 | c.283G>T (p.Ala95Ser) | |
| 9 | g.78304827C>A | CA5095573 | PSAT1 | c.284C>A (p.Ala95Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304827C= | CA1857665721 | PSAT1 | c.284C= (p.Ala95=) | |
| 9 | g.78304827C>G | CA373872266 | PSAT1 | c.284C>G (p.Ala95Gly) | |
| 9 | g.78304827C>T | CA373872268 | PSAT1 | c.284C>T (p.Ala95Val) | gnomAD v4 |
| 9 | g.78304828A= | CA1857665722 | PSAT1 | c.285A= (p.Ala95=) | |
| 9 | g.78304828A>C | CA465542948 | PSAT1 | c.285A>C (p.Ala95=) | |
| 9 | g.78304828A>G | CA465542949 | PSAT1 | c.285A>G (p.Ala95=) | dbSNP gnomAD v4 |
| 9 | g.78304828A>T | CA194441033 | PSAT1 | c.285A>T (p.Ala95=) | dbSNP gnomAD v4 |
| 9 | g.78304829G>A | CA373872270 | PSAT1 | c.286G>A (p.Gly96Arg) | COSMIC |
| 9 | g.78304829G>C | CA373872272 | PSAT1 | c.286G>C (p.Gly96Arg) | |
| 9 | g.78304829G>T | CA373872273 | PSAT1 | c.286G>T (p.Gly96Ter) | |
| 9 | g.78304830G>A | CA373872274 | PSAT1 | c.287G>A (p.Gly96Glu) | |
| 9 | g.78304830G>C | CA373872275 | PSAT1 | c.287G>C (p.Gly96Ala) | |
| 9 | g.78304830G>T | CA373872276 | PSAT1 | c.287G>T (p.Gly96Val) | |
| 9 | g.78304831A>C | CA465542950 | PSAT1 | c.288A>C (p.Gly96=) | |
| 9 | g.78304831A>G | CA465542951 | PSAT1 | c.288A>G (p.Gly96=) | |
| 9 | g.78304831A>T | CA465542952 | PSAT1 | c.288A>T (p.Gly96=) | |
| 9 | g.78304832A>C | CA465542953 | PSAT1 | c.289A>C (p.Arg97=) | |
| 9 | g.78304832A>G | CA373872278 | PSAT1 | c.289A>G (p.Arg97Gly) | |
| 9 | g.78304832A>T | CA373872277 | PSAT1 | c.289A>T (p.Arg97Trp) | |
| 9 | g.78304833G>A | CA373872279 | PSAT1 | c.290G>A (p.Arg97Lys) | ClinVar dbSNP gnomAD v2 |
| 9 | g.78304833G>C | CA373872280 | PSAT1 | c.290G>C (p.Arg97Thr) | |
| 9 | g.78304833G= | CA1857665723 | PSAT1 | c.290G= (p.Arg97=) | |
| 9 | g.78304833G>T | CA373872281 | PSAT1 | c.290G>T (p.Arg97Met) | |
| 9 | g.78304834G>A | CA194441042 | PSAT1 | c.291G>A (p.Arg97=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304834G>C | CA373872282 | PSAT1 | c.291G>C (p.Arg97Ser) | gnomAD v4 |
| 9 | g.78304834G= | CA1857665724 | PSAT1 | c.291G= (p.Arg97=) | |
| 9 | g.78304834G>T | CA373872283 | PSAT1 | c.291G>T (p.Arg97Ser) | |
| 9 | g.78304835T>A | CA373872286 | PSAT1 | c.292T>A (p.Cys98Ser) | |
| 9 | g.78304835T>C | CA373872284 | PSAT1 | c.292T>C (p.Cys98Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.78304835T>G | CA373872285 | PSAT1 | c.292T>G (p.Cys98Gly) | |
| 9 | g.78304836G>A | CA5095574 | PSAT1 | c.293G>A (p.Cys98Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.78304836G>C | CA373872287 | PSAT1 | c.293G>C (p.Cys98Ser) | |
| 9 | g.78304836G= | CA1857665725 | PSAT1 | c.293G= (p.Cys98=) | |
| 9 | g.78304836G>T | CA373872289 | PSAT1 | c.293G>T (p.Cys98Phe) | |
| 9 | g.78304837T>A | CA373872291 | PSAT1 | c.294T>A (p.Cys98Ter) | |
| 9 | g.78304837T>C | CA465542954 | PSAT1 | c.294T>C (p.Cys98=) | ClinVar |
| 9 | g.78304837T>G | CA373872292 | PSAT1 | c.294T>G (p.Cys98Trp) | gnomAD v4 |
| 9 | g.78304838G>A | CA373872294 | PSAT1 | c.295G>A (p.Ala99Thr) | |
| 9 | g.78304838G>C | CA373872297 | PSAT1 | c.295G>C (p.Ala99Pro) | |
| 9 | g.78304838G>T | CA373872296 | PSAT1 | c.295G>T (p.Ala99Ser) | |
| 9 | g.78304839C>A | CA373872298 | PSAT1 | c.296C>A (p.Ala99Asp) | |
| 9 | g.78304839C= | CA1857665727 | PSAT1 | c.296C= (p.Ala99=) | |
| 9 | g.78304839C>G | CA373872304 | PSAT1 | c.296C>G (p.Ala99Gly) | |
| 9 | g.78304839C>T | CA170850 | PSAT1 | c.296C>T (p.Ala99Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304839_78304840delinsCT | CA1857665726 | PSAT1 | c.296_297delinsCT (p.Ala99=) | |
| 9 | g.78304839_78304840delinsTG | CA16042652 | PSAT1 | c.296_297delinsTG (p.Ala99Val) | ClinVar dbSNP |
| 9 | g.78304841_78304844del | CA2690397189 | PSAT1 | c.298_301del (p.Asp100MetfsTer3) | gnomAD v4 |
| 9 | g.78304840T>A | CA465542955 | PSAT1 | c.297T>A (p.Ala99=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.78304840T>C | CA465542956 | PSAT1 | c.297T>C (p.Ala99=) | gnomAD v4 |
| 9 | g.78304840T>G | CA5095575 | PSAT1 | c.297T>G (p.Ala99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.78304840T= | CA1857665728 | PSAT1 | c.297T= (p.Ala99=) |