| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.122506773_122506774delinsTT | CA645568693 | HTRA1 | c.860_861delinsTT (p.Ser287Phe) c.542_543delinsTT (p.Ser181Phe) c.83_84delinsTT (p.Ser28Phe) | COSMIC |
| 10 | g.122506774C>A | CA471666819 | HTRA1 | c.861C>A (p.Ser287=) c.543C>A (p.Ser181=) c.84C>A (p.Ser28=) | |
| 10 | g.122506774C>G | CA471666820 | HTRA1 | c.861C>G (p.Ser287=) c.543C>G (p.Ser181=) c.84C>G (p.Ser28=) | |
| 10 | g.122506774C>T | CA471666822 | HTRA1 | c.861C>T (p.Ser287=) c.543C>T (p.Ser181=) c.84C>T (p.Ser28=) | |
| 10 | g.122506775C>A | CA378585555 | HTRA1 | c.862C>A (p.Leu288Ile) c.544C>A (p.Leu182Ile) c.85C>A (p.Leu29Ile) | |
| 10 | g.122506775C>G | CA378585559 | HTRA1 | c.862C>G (p.Leu288Val) c.544C>G (p.Leu182Val) c.85C>G (p.Leu29Val) | |
| 10 | g.122506775C>T | CA378585557 | HTRA1 | c.862C>T (p.Leu288Phe) c.544C>T (p.Leu182Phe) c.85C>T (p.Leu29Phe) | |
| 10 | g.122506776T>A | CA378585561 | HTRA1 | c.863T>A (p.Leu288His) c.545T>A (p.Leu182His) c.86T>A (p.Leu29His) | |
| 10 | g.122506776T>C | CA378585563 | HTRA1 | c.863T>C (p.Leu288Pro) c.545T>C (p.Leu182Pro) c.86T>C (p.Leu29Pro) | |
| 10 | g.122506776T>G | CA378585565 | HTRA1 | c.863T>G (p.Leu288Arg) c.545T>G (p.Leu182Arg) c.86T>G (p.Leu29Arg) | |
| 10 | g.122506777T>A | CA471666832 | HTRA1 | c.864T>A (p.Leu288=) c.546T>A (p.Leu182=) c.87T>A (p.Leu29=) | |
| 10 | g.122506777T>C | CA471666828 | HTRA1 | c.864T>C (p.Leu288=) c.546T>C (p.Leu182=) c.87T>C (p.Leu29=) | |
| 10 | g.122506777T>G | CA471666829 | HTRA1 | c.864T>G (p.Leu288=) c.546T>G (p.Leu182=) c.87T>G (p.Leu29=) | |
| 10 | g.122506778C>A | CA378585567 | HTRA1 | c.865C>A (p.Gln289Lys) c.547C>A (p.Gln183Lys) c.88C>A (p.Gln30Lys) | |
| 10 | g.122506778C= | CA1941477227 | HTRA1 | c.865C= (p.Gln289=) c.547C= (p.Gln183=) c.88C= (p.Gln30=) | |
| 10 | g.122506778C>G | CA378585569 | HTRA1 | c.865C>G (p.Gln289Glu) c.547C>G (p.Gln183Glu) c.88C>G (p.Gln30Glu) | |
| 10 | g.122506778C>T | CA378585571 | HTRA1 | c.865C>T (p.Gln289Ter) c.547C>T (p.Gln183Ter) c.88C>T (p.Gln30Ter) | ClinVar dbSNP |
| 10 | g.122506779A>C | CA378585573 | HTRA1 | c.866A>C (p.Gln289Pro) c.548A>C (p.Gln183Pro) c.89A>C (p.Gln30Pro) | |
| 10 | g.122506779A>G | CA378585577 | HTRA1 | c.866A>G (p.Gln289Arg) c.548A>G (p.Gln183Arg) c.89A>G (p.Gln30Arg) | |
| 10 | g.122506779A>T | CA378585578 | HTRA1 | c.866A>T (p.Gln289Leu) c.548A>T (p.Gln183Leu) c.89A>T (p.Gln30Leu) | |
| 10 | g.122506780A>C | CA378585580 | HTRA1 | c.867A>C (p.Gln289His) c.549A>C (p.Gln183His) c.90A>C (p.Gln30His) | |
| 10 | g.122506780A>G | CA471666837 | HTRA1 | c.867A>G (p.Gln289=) c.549A>G (p.Gln183=) c.90A>G (p.Gln30=) | |
| 10 | g.122506780A>T | CA378585582 | HTRA1 | c.867A>T (p.Gln289His) c.549A>T (p.Gln183His) c.90A>T (p.Gln30His) | |
| 10 | g.122506781A>C | CA378585588 | HTRA1 | c.868A>C (p.Asn290His) c.550A>C (p.Asn184His) c.91A>C (p.Asn31His) | |
| 10 | g.122506781A>G | CA378585584 | HTRA1 | c.868A>G (p.Asn290Asp) c.550A>G (p.Asn184Asp) c.91A>G (p.Asn31Asp) | |
| 10 | g.122506781A>T | CA378585586 | HTRA1 | c.868A>T (p.Asn290Tyr) c.550A>T (p.Asn184Tyr) c.91A>T (p.Asn31Tyr) | |
| 10 | g.122506782A>C | CA378585590 | HTRA1 | c.869A>C (p.Asn290Thr) c.551A>C (p.Asn184Thr) c.92A>C (p.Asn31Thr) | |
| 10 | g.122506782A>G | CA378585591 | HTRA1 | c.869A>G (p.Asn290Ser) c.551A>G (p.Asn184Ser) c.92A>G (p.Asn31Ser) | |
| 10 | g.122506782A>T | CA378585594 | HTRA1 | c.869A>T (p.Asn290Ile) c.551A>T (p.Asn184Ile) c.92A>T (p.Asn31Ile) | |
| 10 | g.122506785_122506786del | CA2695212892 | HTRA1 | c.872_873del (p.Thr291SerfsTer?) c.554_555del (p.Thr185SerfsTer?) c.95_96del (p.Thr32SerfsTer?) | |
| 10 | g.122506783C>A | CA378585596 | HTRA1 | c.870C>A (p.Asn290Lys) c.552C>A (p.Asn184Lys) c.93C>A (p.Asn31Lys) | |
| 10 | g.122506783C>G | CA378585597 | HTRA1 | c.870C>G (p.Asn290Lys) c.552C>G (p.Asn184Lys) c.93C>G (p.Asn31Lys) | |
| 10 | g.122506783C>T | CA471666845 | HTRA1 | c.870C>T (p.Asn290=) c.552C>T (p.Asn184=) c.93C>T (p.Asn31=) | |
| 10 | g.122506784A>C | CA378585599 | HTRA1 | c.871A>C (p.Thr291Pro) c.553A>C (p.Thr185Pro) c.94A>C (p.Thr32Pro) | |
| 10 | g.122506784A>G | CA378585601 | HTRA1 | c.871A>G (p.Thr291Ala) c.553A>G (p.Thr185Ala) c.94A>G (p.Thr32Ala) | |
| 10 | g.122506784A>T | CA378585604 | HTRA1 | c.871A>T (p.Thr291Ser) c.553A>T (p.Thr185Ser) c.94A>T (p.Thr32Ser) | |
| 10 | g.122506785C>A | CA378585606 | HTRA1 | c.872C>A (p.Thr291Lys) c.554C>A (p.Thr185Lys) c.95C>A (p.Thr32Lys) | |
| 10 | g.122506785C>G | CA378585607 | HTRA1 | c.872C>G (p.Thr291Arg) c.554C>G (p.Thr185Arg) c.95C>G (p.Thr32Arg) | |
| 10 | g.122506785C>T | CA378585609 | HTRA1 | c.872C>T (p.Thr291Ile) c.554C>T (p.Thr185Ile) c.95C>T (p.Thr32Ile) | |
| 10 | g.122506786A= | CA1941477228 | HTRA1 | c.873A= (p.Thr291=) c.555A= (p.Thr185=) c.96A= (p.Thr32=) | |
| 10 | g.122506786A>C | CA471666851 | HTRA1 | c.873A>C (p.Thr291=) c.555A>C (p.Thr185=) c.96A>C (p.Thr32=) | dbSNP |
| 10 | g.122506786A>G | CA471666853 | HTRA1 | c.873A>G (p.Thr291=) c.555A>G (p.Thr185=) c.96A>G (p.Thr32=) | gnomAD v4 |
| 10 | g.122506786A>T | CA471666855 | HTRA1 | c.873A>T (p.Thr291=) c.555A>T (p.Thr185=) c.96A>T (p.Thr32=) | |
| 10 | g.122506787G>A | CA378585613 | HTRA1 | c.874G>A (p.Val292Ile) c.556G>A (p.Val186Ile) c.97G>A (p.Val33Ile) | |
| 10 | g.122506787G>C | CA378585614 | HTRA1 | c.874G>C (p.Val292Leu) c.556G>C (p.Val186Leu) c.97G>C (p.Val33Leu) | |
| 10 | g.122506787G>T | CA378585611 | HTRA1 | c.874G>T (p.Val292Phe) c.556G>T (p.Val186Phe) c.97G>T (p.Val33Phe) | |
| 10 | g.122506788T>A | CA378585620 | HTRA1 | c.875T>A (p.Val292Asp) c.557T>A (p.Val186Asp) c.98T>A (p.Val33Asp) | |
| 10 | g.122506788T>C | CA378585617 | HTRA1 | c.875T>C (p.Val292Ala) c.557T>C (p.Val186Ala) c.98T>C (p.Val33Ala) | |
| 10 | g.122506788T>G | CA378585619 | HTRA1 | c.875T>G (p.Val292Gly) c.557T>G (p.Val186Gly) c.98T>G (p.Val33Gly) | |
| 10 | g.122506789C>A | CA471666866 | HTRA1 | c.876C>A (p.Val292=) c.558C>A (p.Val186=) c.99C>A (p.Val33=) |