| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.122506767C>A | CA378585528 | HTRA1 | c.854C>A (p.Pro285Gln) c.536C>A (p.Pro179Gln) c.77C>A (p.Pro26Gln) | |
| 10 | g.122506767C= | CA1941477225 | HTRA1 | c.854C= (p.Pro285=) c.536C= (p.Pro179=) c.77C= (p.Pro26=) | |
| 10 | g.122506767C>G | CA378585530 | HTRA1 | c.854C>G (p.Pro285Arg) c.536C>G (p.Pro179Arg) c.77C>G (p.Pro26Arg) | |
| 10 | g.122506767C>T | CA345925 | HTRA1 | c.854C>T (p.Pro285Leu) c.536C>T (p.Pro179Leu) c.77C>T (p.Pro26Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.122506768G>A | CA5725956 | HTRA1 | c.855G>A (p.Pro285=) c.537G>A (p.Pro179=) c.78G>A (p.Pro26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.122506768G>C | CA471666804 | HTRA1 | c.855G>C (p.Pro285=) c.537G>C (p.Pro179=) c.78G>C (p.Pro26=) | dbSNP |
| 10 | g.122506768G= | CA1941477226 | HTRA1 | c.855G= (p.Pro285=) c.537G= (p.Pro179=) c.78G= (p.Pro26=) | |
| 10 | g.122506768G>T | CA471666805 | HTRA1 | c.855G>T (p.Pro285=) c.537G>T (p.Pro179=) c.78G>T (p.Pro26=) | |
| 10 | g.122506769T>A | CA378585534 | HTRA1 | c.856T>A (p.Phe286Ile) c.538T>A (p.Phe180Ile) c.79T>A (p.Phe27Ile) | |
| 10 | g.122506769T>C | CA378585537 | HTRA1 | c.856T>C (p.Phe286Leu) c.538T>C (p.Phe180Leu) c.79T>C (p.Phe27Leu) | |
| 10 | g.122506769T>G | CA378585536 | HTRA1 | c.856T>G (p.Phe286Val) c.538T>G (p.Phe180Val) c.79T>G (p.Phe27Val) | |
| 10 | g.122506770T>A | CA378585539 | HTRA1 | c.857T>A (p.Phe286Tyr) c.539T>A (p.Phe180Tyr) c.80T>A (p.Phe27Tyr) | |
| 10 | g.122506770T>C | CA378585540 | HTRA1 | c.857T>C (p.Phe286Ser) c.539T>C (p.Phe180Ser) c.80T>C (p.Phe27Ser) | ClinVar |
| 10 | g.122506770T>G | CA378585541 | HTRA1 | c.857T>G (p.Phe286Cys) c.539T>G (p.Phe180Cys) c.80T>G (p.Phe27Cys) | |
| 10 | g.122506771T>A | CA378585543 | HTRA1 | c.858T>A (p.Phe286Leu) c.540T>A (p.Phe180Leu) c.81T>A (p.Phe27Leu) | |
| 10 | g.122506771T>C | CA471666813 | HTRA1 | c.858T>C (p.Phe286=) c.540T>C (p.Phe180=) c.81T>C (p.Phe27=) | |
| 10 | g.122506771T>G | CA378585544 | HTRA1 | c.858T>G (p.Phe286Leu) c.540T>G (p.Phe180Leu) c.81T>G (p.Phe27Leu) | |
| 10 | g.122506772T>A | CA378585546 | HTRA1 | c.859T>A (p.Ser287Thr) c.541T>A (p.Ser181Thr) c.82T>A (p.Ser28Thr) | |
| 10 | g.122506772T>C | CA378585547 | HTRA1 | c.859T>C (p.Ser287Pro) c.541T>C (p.Ser181Pro) c.82T>C (p.Ser28Pro) | ClinVar |
| 10 | g.122506772T>G | CA378585549 | HTRA1 | c.859T>G (p.Ser287Ala) c.541T>G (p.Ser181Ala) c.82T>G (p.Ser28Ala) | |
| 10 | g.122506773C>A | CA378585550 | HTRA1 | c.860C>A (p.Ser287Tyr) c.542C>A (p.Ser181Tyr) c.83C>A (p.Ser28Tyr) | |
| 10 | g.122506773C>G | CA378585551 | HTRA1 | c.860C>G (p.Ser287Cys) c.542C>G (p.Ser181Cys) c.83C>G (p.Ser28Cys) | |
| 10 | g.122506773C>T | CA378585554 | HTRA1 | c.860C>T (p.Ser287Phe) c.542C>T (p.Ser181Phe) c.83C>T (p.Ser28Phe) | |
| 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) |