| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81935000_81935014del | CA2576428654 | PYCR1 | c.452_466del (p.Gln151_Val156delinsLeu) c.533_547del (p.Gln178_Val183delinsLeu) c.269_283del (p.Gln90_Val95delinsLeu) c.362_376del (p.Gln121_Val126delinsLeu) c.413_427del (p.Gln138_Val143delinsLeu) | |
| 17 | g.81935011A= | CA2278749808 | PYCR1 | c.455T= (p.Leu152=) c.536T= (p.Leu179=) c.272T= (p.Leu91=) c.365T= (p.Leu122=) c.416T= (p.Leu139=) | |
| 17 | g.81935011A>C | CA401538550 | PYCR1 | c.455T>G (p.Leu152Arg) c.536T>G (p.Leu179Arg) c.272T>G (p.Leu91Arg) c.365T>G (p.Leu122Arg) c.416T>G (p.Leu139Arg) | |
| 17 | g.81935011A>G | CA8845440 | PYCR1 | c.455T>C (p.Leu152Pro) c.536T>C (p.Leu179Pro) c.272T>C (p.Leu91Pro) c.365T>C (p.Leu122Pro) c.416T>C (p.Leu139Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.81935011A>T | CA401538555 | PYCR1 | c.455T>A (p.Leu152Gln) c.536T>A (p.Leu179Gln) c.272T>A (p.Leu91Gln) c.365T>A (p.Leu122Gln) c.416T>A (p.Leu139Gln) | |
| 17 | g.81935012G>A | CA502426467 | PYCR1 | c.454C>T (p.Leu152=) c.535C>T (p.Leu179=) c.271C>T (p.Leu91=) c.364C>T (p.Leu122=) c.415C>T (p.Leu139=) | |
| 17 | g.81935012G>C | CA401538559 | PYCR1 | c.454C>G (p.Leu152Val) c.535C>G (p.Leu179Val) c.271C>G (p.Leu91Val) c.364C>G (p.Leu122Val) c.415C>G (p.Leu139Val) | |
| 17 | g.81935012G>T | CA401538562 | PYCR1 | c.454C>A (p.Leu152Met) c.535C>A (p.Leu179Met) c.271C>A (p.Leu91Met) c.364C>A (p.Leu122Met) c.415C>A (p.Leu139Met) | |
| 17 | g.81935013C>A | CA401538564 | PYCR1 | c.453G>T (p.Gln151His) c.534G>T (p.Gln178His) c.270G>T (p.Gln90His) c.363G>T (p.Gln121His) c.414G>T (p.Gln138His) | gnomAD v4 |
| 17 | g.81935013C>G | CA401538568 | PYCR1 | c.453G>C (p.Gln151His) c.534G>C (p.Gln178His) c.270G>C (p.Gln90His) c.363G>C (p.Gln121His) c.414G>C (p.Gln138His) | gnomAD v4 |
| 17 | g.81935013C>T | CA502426471 | PYCR1 | c.453G>A (p.Gln151=) c.534G>A (p.Gln178=) c.270G>A (p.Gln90=) c.363G>A (p.Gln121=) c.414G>A (p.Gln138=) | |
| 17 | g.81935014T>A | CA401538569 | PYCR1 | c.452A>T (p.Gln151Leu) c.533A>T (p.Gln178Leu) c.269A>T (p.Gln90Leu) c.362A>T (p.Gln121Leu) c.413A>T (p.Gln138Leu) | |
| 17 | g.81935014T>C | CA401538572 | PYCR1 | c.452A>G (p.Gln151Arg) c.533A>G (p.Gln178Arg) c.269A>G (p.Gln90Arg) c.362A>G (p.Gln121Arg) c.413A>G (p.Gln138Arg) | |
| 17 | g.81935014T>G | CA401538576 | PYCR1 | c.452A>C (p.Gln151Pro) c.533A>C (p.Gln178Pro) c.269A>C (p.Gln90Pro) c.362A>C (p.Gln121Pro) c.413A>C (p.Gln138Pro) | |
| 17 | g.81935015G>A | CA401538580 | PYCR1 | c.451C>T (p.Gln151Ter) c.532C>T (p.Gln178Ter) c.268C>T (p.Gln90Ter) c.361C>T (p.Gln121Ter) c.412C>T (p.Gln138Ter) | gnomAD v4 |
| 17 | g.81935015G>C | CA401538582 | PYCR1 | c.451C>G (p.Gln151Glu) c.532C>G (p.Gln178Glu) c.268C>G (p.Gln90Glu) c.361C>G (p.Gln121Glu) c.412C>G (p.Gln138Glu) | |
| 17 | g.81935015G>T | CA401538578 | PYCR1 | c.451C>A (p.Gln151Lys) c.532C>A (p.Gln178Lys) c.268C>A (p.Gln90Lys) c.361C>A (p.Gln121Lys) c.412C>A (p.Gln138Lys) | gnomAD v4 |
| 17 | g.81935016C>A | CA401538587 | PYCR1 | c.450G>T (p.Glu150Asp) c.531G>T (p.Glu177Asp) c.267G>T (p.Glu89Asp) c.360G>T (p.Glu120Asp) c.411G>T (p.Glu137Asp) | |
| 17 | g.81935016C= | CA2278749809 | PYCR1 | c.450G= (p.Glu150=) c.531G= (p.Glu177=) c.267G= (p.Glu89=) c.360G= (p.Glu120=) c.411G= (p.Glu137=) | |
| 17 | g.81935016C>G | CA401538584 | PYCR1 | c.450G>C (p.Glu150Asp) c.531G>C (p.Glu177Asp) c.267G>C (p.Glu89Asp) c.360G>C (p.Glu120Asp) c.411G>C (p.Glu137Asp) | |
| 17 | g.81935016C>T | CA502426473 | PYCR1 | c.450G>A (p.Glu150=) c.531G>A (p.Glu177=) c.267G>A (p.Glu89=) c.360G>A (p.Glu120=) c.411G>A (p.Glu137=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81935017T>A | CA401538590 | PYCR1 | c.449A>T (p.Glu150Val) c.530A>T (p.Glu177Val) c.266A>T (p.Glu89Val) c.359A>T (p.Glu120Val) c.410A>T (p.Glu137Val) | |
| 17 | g.81935017T>C | CA401538592 | PYCR1 | c.449A>G (p.Glu150Gly) c.530A>G (p.Glu177Gly) c.266A>G (p.Glu89Gly) c.359A>G (p.Glu120Gly) c.410A>G (p.Glu137Gly) | |
| 17 | g.81935017T>G | CA401538596 | PYCR1 | c.449A>C (p.Glu150Ala) c.530A>C (p.Glu177Ala) c.266A>C (p.Glu89Ala) c.359A>C (p.Glu120Ala) c.410A>C (p.Glu137Ala) | |
| 17 | g.81935018C>A | CA401538603 | PYCR1 | c.448G>T (p.Glu150Ter) c.529G>T (p.Glu177Ter) c.265G>T (p.Glu89Ter) c.358G>T (p.Glu120Ter) c.409G>T (p.Glu137Ter) | |
| 17 | g.81935018C>G | CA401538605 | PYCR1 | c.448G>C (p.Glu150Gln) c.529G>C (p.Glu177Gln) c.265G>C (p.Glu89Gln) c.358G>C (p.Glu120Gln) c.409G>C (p.Glu137Gln) | |
| 17 | g.81935018C>T | CA401538608 | PYCR1 | c.448G>A (p.Glu150Lys) c.529G>A (p.Glu177Lys) c.265G>A (p.Glu89Lys) c.358G>A (p.Glu120Lys) c.409G>A (p.Glu137Lys) | |
| 17 | g.81935019C>A | CA401538611 | PYCR1 | c.447G>T (p.Met149Ile) c.528G>T (p.Met176Ile) c.264G>T (p.Met88Ile) c.357G>T (p.Met119Ile) c.408G>T (p.Met136Ile) | |
| 17 | g.81935019C>G | CA401538612 | PYCR1 | c.447G>C (p.Met149Ile) c.528G>C (p.Met176Ile) c.264G>C (p.Met88Ile) c.357G>C (p.Met119Ile) c.408G>C (p.Met136Ile) | |
| 17 | g.81935019C>T | CA401538613 | PYCR1 | c.447G>A (p.Met149Ile) c.528G>A (p.Met176Ile) c.264G>A (p.Met88Ile) c.357G>A (p.Met119Ile) c.408G>A (p.Met136Ile) | gnomAD v4 |
| 17 | g.81935020A= | CA2278749810 | PYCR1 | c.446T= (p.Met149=) c.527T= (p.Met176=) c.263T= (p.Met88=) c.356T= (p.Met119=) c.407T= (p.Met136=) | |
| 17 | g.81935020A>C | CA401538614 | PYCR1 | c.446T>G (p.Met149Arg) c.527T>G (p.Met176Arg) c.263T>G (p.Met88Arg) c.356T>G (p.Met119Arg) c.407T>G (p.Met136Arg) | |
| 17 | g.81935020A>G | CA401538615 | PYCR1 | c.446T>C (p.Met149Thr) c.527T>C (p.Met176Thr) c.263T>C (p.Met88Thr) c.356T>C (p.Met119Thr) c.407T>C (p.Met136Thr) | dbSNP gnomAD v4 |
| 17 | g.81935020A>T | CA401538616 | PYCR1 | c.446T>A (p.Met149Lys) c.527T>A (p.Met176Lys) c.263T>A (p.Met88Lys) c.356T>A (p.Met119Lys) c.407T>A (p.Met136Lys) | |
| 17 | g.81935021T>A | CA401538621 | PYCR1 | c.445A>T (p.Met149Leu) c.526A>T (p.Met176Leu) c.262A>T (p.Met88Leu) c.355A>T (p.Met119Leu) c.406A>T (p.Met136Leu) | |
| 17 | g.81935021T>C | CA401538619 | PYCR1 | c.445A>G (p.Met149Val) c.526A>G (p.Met176Val) c.262A>G (p.Met88Val) c.355A>G (p.Met119Val) c.406A>G (p.Met136Val) | dbSNP gnomAD v4 |
| 17 | g.81935021T>G | CA401538620 | PYCR1 | c.445A>C (p.Met149Leu) c.526A>C (p.Met176Leu) c.262A>C (p.Met88Leu) c.355A>C (p.Met119Leu) c.406A>C (p.Met136Leu) | |
| 17 | g.81935021T= | CA2278749811 | PYCR1 | c.445A= (p.Met149=) c.526A= (p.Met176=) c.262A= (p.Met88=) c.355A= (p.Met119=) c.406A= (p.Met136=) | |
| 17 | g.81935022G>A | CA502426482 | PYCR1 | c.444C>T (p.Leu148=) c.525C>T (p.Leu175=) c.261C>T (p.Leu87=) c.354C>T (p.Leu118=) c.405C>T (p.Leu135=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81935022G>C | CA502426483 | PYCR1 | c.444C>G (p.Leu148=) c.525C>G (p.Leu175=) c.261C>G (p.Leu87=) c.354C>G (p.Leu118=) c.405C>G (p.Leu135=) | |
| 17 | g.81935022G= | CA2278749812 | PYCR1 | c.444C= (p.Leu148=) c.525C= (p.Leu175=) c.261C= (p.Leu87=) c.354C= (p.Leu118=) c.405C= (p.Leu135=) | |
| 17 | g.81935022G>T | CA502426484 | PYCR1 | c.444C>A (p.Leu148=) c.525C>A (p.Leu175=) c.261C>A (p.Leu87=) c.354C>A (p.Leu118=) c.405C>A (p.Leu135=) | gnomAD v4 |
| 17 | g.81935023A= | CA2278749813 | PYCR1 | c.443T= (p.Leu148=) c.524T= (p.Leu175=) c.260T= (p.Leu87=) c.353T= (p.Leu118=) c.404T= (p.Leu135=) | |
| 17 | g.81935023A>C | CA401538623 | PYCR1 | c.443T>G (p.Leu148Arg) c.524T>G (p.Leu175Arg) c.260T>G (p.Leu87Arg) c.353T>G (p.Leu118Arg) c.404T>G (p.Leu135Arg) | gnomAD v4 |
| 17 | g.81935023A>G | CA401538626 | PYCR1 | c.443T>C (p.Leu148Pro) c.524T>C (p.Leu175Pro) c.260T>C (p.Leu87Pro) c.353T>C (p.Leu118Pro) c.404T>C (p.Leu135Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.81935023A>T | CA401538629 | PYCR1 | c.443T>A (p.Leu148His) c.524T>A (p.Leu175His) c.260T>A (p.Leu87His) c.353T>A (p.Leu118His) c.404T>A (p.Leu135His) | |
| 17 | g.81935024G>A | CA8845441 | PYCR1 | c.442C>T (p.Leu148Phe) c.523C>T (p.Leu175Phe) c.259C>T (p.Leu87Phe) c.352C>T (p.Leu118Phe) c.403C>T (p.Leu135Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81935024G>C | CA401538640 | PYCR1 | c.442C>G (p.Leu148Val) c.523C>G (p.Leu175Val) c.259C>G (p.Leu87Val) c.352C>G (p.Leu118Val) c.403C>G (p.Leu135Val) | |
| 17 | g.81935024G= | CA2278749814 | PYCR1 | c.442C= (p.Leu148=) c.523C= (p.Leu175=) c.259C= (p.Leu87=) c.352C= (p.Leu118=) c.403C= (p.Leu135=) | |
| 17 | g.81935024G>T | CA401538641 | PYCR1 | c.442C>A (p.Leu148Ile) c.523C>A (p.Leu175Ile) c.259C>A (p.Leu87Ile) c.352C>A (p.Leu118Ile) c.403C>A (p.Leu135Ile) | gnomAD v4 |