Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506755_122506760dup | CA2697558800 | HTRA1 | c.842_847dup (p.Ile282_Gly283insAlaIle) c.524_529dup (p.Ile176_Gly177insAlaIle) c.65_70dup (p.Ile23_Gly24insAlaIle) | ClinVar |
10 | g.122506758T>A | CA378585487 | HTRA1 | c.845T>A (p.Ile282Asn) c.527T>A (p.Ile176Asn) c.68T>A (p.Ile23Asn) | |
10 | g.122506758T>C | CA5725950 | HTRA1 | c.845T>C (p.Ile282Thr) c.527T>C (p.Ile176Thr) c.68T>C (p.Ile23Thr) | dbSNP ExAC gnomAD v2 |
10 | g.122506758T>G | CA378585489 | HTRA1 | c.845T>G (p.Ile282Ser) c.527T>G (p.Ile176Ser) c.68T>G (p.Ile23Ser) | |
10 | g.122506758T= | CA1941477218 | HTRA1 | c.845T= (p.Ile282=) c.527T= (p.Ile176=) c.68T= (p.Ile23=) | |
10 | g.122506759C>A | CA5725952 | HTRA1 | c.846C>A (p.Ile282=) c.528C>A (p.Ile176=) c.69C>A (p.Ile23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506759C= | CA1941477219 | HTRA1 | c.846C= (p.Ile282=) c.528C= (p.Ile176=) c.69C= (p.Ile23=) | |
10 | g.122506759C>G | CA378585493 | HTRA1 | c.846C>G (p.Ile282Met) c.528C>G (p.Ile176Met) c.69C>G (p.Ile23Met) | gnomAD v4 |
10 | g.122506759C>T | CA5725951 | HTRA1 | c.846C>T (p.Ile282=) c.528C>T (p.Ile176=) c.69C>T (p.Ile23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506760G>A | CA5725953 | HTRA1 | c.847G>A (p.Gly283Arg) c.529G>A (p.Gly177Arg) c.70G>A (p.Gly24Arg) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
10 | g.122506760G>C | CA378585498 | HTRA1 | c.847G>C (p.Gly283Arg) c.529G>C (p.Gly177Arg) c.70G>C (p.Gly24Arg) | gnomAD v4 |
10 | g.122506760G= | CA1941477220 | HTRA1 | c.847G= (p.Gly283=) c.529G= (p.Gly177=) c.70G= (p.Gly24=) | |
10 | g.122506760G>T | CA378585495 | HTRA1 | c.847G>T (p.Gly283Ter) c.529G>T (p.Gly177Ter) c.70G>T (p.Gly24Ter) | dbSNP |
10 | g.122506761G>A | CA378585501 | HTRA1 | c.848G>A (p.Gly283Glu) c.530G>A (p.Gly177Glu) c.71G>A (p.Gly24Glu) | |
10 | g.122506761G>C | CA5725954 | HTRA1 | c.848G>C (p.Gly283Ala) c.530G>C (p.Gly177Ala) c.71G>C (p.Gly24Ala) | dbSNP ExAC gnomAD v2 |
10 | g.122506761G= | CA1941477221 | HTRA1 | c.848G= (p.Gly283=) c.530G= (p.Gly177=) c.71G= (p.Gly24=) | |
10 | g.122506761G>T | CA378585503 | HTRA1 | c.848G>T (p.Gly283Val) c.530G>T (p.Gly177Val) c.71G>T (p.Gly24Val) | |
10 | g.122506762A= | CA1941477222 | HTRA1 | c.849A= (p.Gly283=) c.531A= (p.Gly177=) c.72A= (p.Gly24=) | |
10 | g.122506762A>C | CA471666779 | HTRA1 | c.849A>C (p.Gly283=) c.531A>C (p.Gly177=) c.72A>C (p.Gly24=) | |
10 | g.122506762A>G | CA5725955 | HTRA1 | c.849A>G (p.Gly283=) c.531A>G (p.Gly177=) c.72A>G (p.Gly24=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506762A>T | CA471666781 | HTRA1 | c.849A>T (p.Gly283=) c.531A>T (p.Gly177=) c.72A>T (p.Gly24=) | |
10 | g.122506763A= | CA1941477223 | HTRA1 | c.850A= (p.Ser284=) c.532A= (p.Ser178=) c.73A= (p.Ser25=) | |
10 | g.122506763A>C | CA378585511 | HTRA1 | c.850A>C (p.Ser284Arg) c.532A>C (p.Ser178Arg) c.73A>C (p.Ser25Arg) | |
10 | g.122506763A>G | CA378585507 | HTRA1 | c.850A>G (p.Ser284Gly) c.532A>G (p.Ser178Gly) c.73A>G (p.Ser25Gly) | |
10 | g.122506763A>T | CA378585509 | HTRA1 | c.850A>T (p.Ser284Cys) c.532A>T (p.Ser178Cys) c.73A>T (p.Ser25Cys) | |
10 | g.122506764G>A | CA378585513 | HTRA1 | c.851G>A (p.Ser284Asn) c.533G>A (p.Ser178Asn) c.74G>A (p.Ser25Asn) | |
10 | g.122506764G>C | CA378585515 | HTRA1 | c.851G>C (p.Ser284Thr) c.533G>C (p.Ser178Thr) c.74G>C (p.Ser25Thr) | |
10 | g.122506764G>T | CA378585517 | HTRA1 | c.851G>T (p.Ser284Ile) c.533G>T (p.Ser178Ile) c.74G>T (p.Ser25Ile) | |
10 | g.122506764dup | CA918779412 | HTRA1 | c.851dup (p.Ser284ArgfsTer?) c.533dup (p.Ser178ArgfsTer?) c.74dup (p.Ser25ArgfsTer?) | dbSNP |
10 | g.122506765C>A | CA350890 | HTRA1 | c.852C>A (p.Ser284Arg) c.534C>A (p.Ser178Arg) c.75C>A (p.Ser25Arg) | ClinVar dbSNP |
10 | g.122506765C= | CA1941477224 | HTRA1 | c.852C= (p.Ser284=) c.534C= (p.Ser178=) c.75C= (p.Ser25=) | |
10 | g.122506765C>G | CA378585519 | HTRA1 | c.852C>G (p.Ser284Arg) c.534C>G (p.Ser178Arg) c.75C>G (p.Ser25Arg) | |
10 | g.122506765C>T | CA471666795 | HTRA1 | c.852C>T (p.Ser284=) c.534C>T (p.Ser178=) c.75C>T (p.Ser25=) | |
10 | g.122506766C>A | CA378585522 | HTRA1 | c.853C>A (p.Pro285Thr) c.535C>A (p.Pro179Thr) c.76C>A (p.Pro26Thr) | |
10 | g.122506766C>G | CA378585526 | HTRA1 | c.853C>G (p.Pro285Ala) c.535C>G (p.Pro179Ala) c.76C>G (p.Pro26Ala) | |
10 | g.122506766C>T | CA378585524 | HTRA1 | c.853C>T (p.Pro285Ser) c.535C>T (p.Pro179Ser) c.76C>T (p.Pro26Ser) | |
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) | |
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=) | |
10 | g.122506789C>G | CA471666867 | HTRA1 | c.876C>G (p.Val292=) c.558C>G (p.Val186=) c.99C>G (p.Val33=) | |
10 | g.122506789C>T | CA471666869 | HTRA1 | c.876C>T (p.Val292=) c.558C>T (p.Val186=) c.99C>T (p.Val33=) | |
10 | g.122506790A>C | CA378585621 | HTRA1 | c.877A>C (p.Thr293Pro) c.559A>C (p.Thr187Pro) c.100A>C (p.Thr34Pro) | |
10 | g.122506790A>G | CA378585624 | HTRA1 | c.877A>G (p.Thr293Ala) c.559A>G (p.Thr187Ala) c.100A>G (p.Thr34Ala) | gnomAD v4 |
10 | g.122506790A>T | CA378585625 | HTRA1 | c.877A>T (p.Thr293Ser) c.559A>T (p.Thr187Ser) c.100A>T (p.Thr34Ser) | |
10 | g.122506791C>A | CA378585628 | HTRA1 | c.878C>A (p.Thr293Asn) c.560C>A (p.Thr187Asn) c.101C>A (p.Thr34Asn) | |
10 | g.122506791C>G | CA378585630 | HTRA1 | c.878C>G (p.Thr293Ser) c.560C>G (p.Thr187Ser) c.101C>G (p.Thr34Ser) | |
10 | g.122506791C>T | CA378585632 | HTRA1 | c.878C>T (p.Thr293Ile) c.560C>T (p.Thr187Ile) c.101C>T (p.Thr34Ile) | |
10 | g.122506792C>A | CA471666877 | HTRA1 | c.879C>A (p.Thr293=) c.561C>A (p.Thr187=) c.102C>A (p.Thr34=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506792C= | CA1941477229 | HTRA1 | c.879C= (p.Thr293=) c.561C= (p.Thr187=) c.102C= (p.Thr34=) | |
10 | g.122506792C>G | CA471666878 | HTRA1 | c.879C>G (p.Thr293=) c.561C>G (p.Thr187=) c.102C>G (p.Thr34=) | |
10 | g.122506792C>T | CA5725957 | HTRA1 | c.879C>T (p.Thr293=) c.561C>T (p.Thr187=) c.102C>T (p.Thr34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506793A= | CA1941477230 | HTRA1 | c.880A= (p.Thr294=) c.562A= (p.Thr188=) c.103A= (p.Thr35=) | |
10 | g.122506793A>C | CA378585635 | HTRA1 | c.880A>C (p.Thr294Pro) c.562A>C (p.Thr188Pro) c.103A>C (p.Thr35Pro) | |
10 | g.122506793A>G | CA378585637 | HTRA1 | c.880A>G (p.Thr294Ala) c.562A>G (p.Thr188Ala) c.103A>G (p.Thr35Ala) | dbSNP gnomAD v4 |
10 | g.122506793A>T | CA378585639 | HTRA1 | c.880A>T (p.Thr294Ser) c.562A>T (p.Thr188Ser) c.103A>T (p.Thr35Ser) | |
10 | g.122506794C>A | CA378585645 | HTRA1 | c.881C>A (p.Thr294Asn) c.563C>A (p.Thr188Asn) c.104C>A (p.Thr35Asn) | |
10 | g.122506794C= | CA1941477231 | HTRA1 | c.881C= (p.Thr294=) c.563C= (p.Thr188=) c.104C= (p.Thr35=) | |
10 | g.122506794C>G | CA378585641 | HTRA1 | c.881C>G (p.Thr294Ser) c.563C>G (p.Thr188Ser) c.104C>G (p.Thr35Ser) | |
10 | g.122506794C>T | CA378585643 | HTRA1 | c.881C>T (p.Thr294Ile) c.563C>T (p.Thr188Ile) c.104C>T (p.Thr35Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506795C>A | CA471666887 | HTRA1 | c.882C>A (p.Thr294=) c.564C>A (p.Thr188=) c.105C>A (p.Thr35=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506795C= | CA1941477232 | HTRA1 | c.882C= (p.Thr294=) c.564C= (p.Thr188=) c.105C= (p.Thr35=) | |
10 | g.122506795C>G | CA5725958 | HTRA1 | c.882C>G (p.Thr294=) c.564C>G (p.Thr188=) c.105C>G (p.Thr35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506795C>T | CA5725959 | HTRA1 | c.882C>T (p.Thr294=) c.564C>T (p.Thr188=) c.105C>T (p.Thr35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506796G>A | CA342726 | HTRA1 | c.883G>A (p.Gly295Arg) c.565G>A (p.Gly189Arg) c.106G>A (p.Gly36Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.122506796G>C | CA5725960 | HTRA1 | c.883G>C (p.Gly295Arg) c.565G>C (p.Gly189Arg) c.106G>C (p.Gly36Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506796G= | CA1941477233 | HTRA1 | c.883G= (p.Gly295=) c.565G= (p.Gly189=) c.106G= (p.Gly36=) | |
10 | g.122506796G>T | CA378585651 | HTRA1 | c.883G>T (p.Gly295Trp) c.565G>T (p.Gly189Trp) c.106G>T (p.Gly36Trp) | |
10 | g.122506797G>A | CA5725961 | HTRA1 | c.884G>A (p.Gly295Glu) c.566G>A (p.Gly189Glu) c.107G>A (p.Gly36Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506797G>C | CA378585653 | HTRA1 | c.884G>C (p.Gly295Ala) c.566G>C (p.Gly189Ala) c.107G>C (p.Gly36Ala) | |
10 | g.122506797G= | CA1941477234 | HTRA1 | c.884G= (p.Gly295=) c.566G= (p.Gly189=) c.107G= (p.Gly36=) | |
10 | g.122506797G>T | CA378585655 | HTRA1 | c.884G>T (p.Gly295Val) c.566G>T (p.Gly189Val) c.107G>T (p.Gly36Val) | |
10 | g.122506798G>A | CA471666900 | HTRA1 | c.885G>A (p.Gly295=) c.567G>A (p.Gly189=) c.108G>A (p.Gly36=) | |
10 | g.122506798G>C | CA471666901 | HTRA1 | c.885G>C (p.Gly295=) c.567G>C (p.Gly189=) c.108G>C (p.Gly36=) | |
10 | g.122506798G>T | CA471666904 | HTRA1 | c.885G>T (p.Gly295=) c.567G>T (p.Gly189=) c.108G>T (p.Gly36=) | |
10 | g.122506799A>C | CA378585657 | HTRA1 | c.886A>C (p.Ile296Leu) c.568A>C (p.Ile190Leu) c.109A>C (p.Ile37Leu) | |
10 | g.122506799A>G | CA378585659 | HTRA1 | c.886A>G (p.Ile296Val) c.568A>G (p.Ile190Val) c.109A>G (p.Ile37Val) | |
10 | g.122506799A>T | CA378585661 | HTRA1 | c.886A>T (p.Ile296Phe) c.568A>T (p.Ile190Phe) c.109A>T (p.Ile37Phe) | |
10 | g.122506800T>A | CA378585665 | HTRA1 | c.887T>A (p.Ile296Asn) c.569T>A (p.Ile190Asn) c.110T>A (p.Ile37Asn) | |
10 | g.122506800T>C | CA214411347 | HTRA1 | c.887T>C (p.Ile296Thr) c.569T>C (p.Ile190Thr) c.110T>C (p.Ile37Thr) | dbSNP |
10 | g.122506800T>G | CA378585663 | HTRA1 | c.887T>G (p.Ile296Ser) c.569T>G (p.Ile190Ser) c.110T>G (p.Ile37Ser) | |
10 | g.122506800T= | CA1941477235 | HTRA1 | c.887T= (p.Ile296=) c.569T= (p.Ile190=) c.110T= (p.Ile37=) | |
10 | g.122506801C>A | CA471666913 | HTRA1 | c.888C>A (p.Ile296=) c.570C>A (p.Ile190=) c.111C>A (p.Ile37=) | |
10 | g.122506801C= | CA1941477236 | HTRA1 | c.888C= (p.Ile296=) c.570C= (p.Ile190=) c.111C= (p.Ile37=) | |
10 | g.122506801C>G | CA378585667 | HTRA1 | c.888C>G (p.Ile296Met) c.570C>G (p.Ile190Met) c.111C>G (p.Ile37Met) | ClinVar dbSNP |
10 | g.122506801C>T | CA5725962 | HTRA1 | c.888C>T (p.Ile296=) c.570C>T (p.Ile190=) c.111C>T (p.Ile37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506802G>A | CA340685 | HTRA1 | c.889G>A (p.Val297Met) c.571G>A (p.Val191Met) c.112G>A (p.Val38Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506802G>C | CA378585670 | HTRA1 | c.889G>C (p.Val297Leu) c.571G>C (p.Val191Leu) c.112G>C (p.Val38Leu) | |
10 | g.122506802G= | CA1941477237 | HTRA1 | c.889G= (p.Val297=) c.571G= (p.Val191=) c.112G= (p.Val38=) | |
10 | g.122506802G>T | CA378585672 | HTRA1 | c.889G>T (p.Val297Leu) c.571G>T (p.Val191Leu) c.112G>T (p.Val38Leu) | |
10 | g.122506803T>A | CA378585674 | HTRA1 | c.890T>A (p.Val297Glu) c.572T>A (p.Val191Glu) c.113T>A (p.Val38Glu) | |
10 | g.122506803T>C | CA378585675 | HTRA1 | c.890T>C (p.Val297Ala) c.572T>C (p.Val191Ala) c.113T>C (p.Val38Ala) | |
10 | g.122506803T>G | CA378585677 | HTRA1 | c.890T>G (p.Val297Gly) c.572T>G (p.Val191Gly) c.113T>G (p.Val38Gly) | |
10 | g.122506804G>A | CA471666921 | HTRA1 | c.891G>A (p.Val297=) c.573G>A (p.Val191=) c.114G>A (p.Val38=) | gnomAD v4 |
10 | g.122506804G>C | CA471666923 | HTRA1 | c.891G>C (p.Val297=) c.573G>C (p.Val191=) c.114G>C (p.Val38=) | |
10 | g.122506804G>T | CA471666922 | HTRA1 | c.891G>T (p.Val297=) c.573G>T (p.Val191=) c.114G>T (p.Val38=) | |
10 | g.122506805A>C | CA378585679 | HTRA1 | c.892A>C (p.Ser298Arg) c.574A>C (p.Ser192Arg) c.115A>C (p.Ser39Arg) | |
10 | g.122506805A>G | CA378585681 | HTRA1 | c.892A>G (p.Ser298Gly) c.574A>G (p.Ser192Gly) c.115A>G (p.Ser39Gly) | |
10 | g.122506805A>T | CA378585682 | HTRA1 | c.892A>T (p.Ser298Cys) c.574A>T (p.Ser192Cys) c.115A>T (p.Ser39Cys) | |
10 | g.122506806G>A | CA378585683 | HTRA1 | c.893G>A (p.Ser298Asn) c.575G>A (p.Ser192Asn) c.116G>A (p.Ser39Asn) | ClinVar dbSNP |
10 | g.122506806G>C | CA378585685 | HTRA1 | c.893G>C (p.Ser298Thr) c.575G>C (p.Ser192Thr) c.116G>C (p.Ser39Thr) | |
10 | g.122506806G>T | CA378585687 | HTRA1 | c.893G>T (p.Ser298Ile) c.575G>T (p.Ser192Ile) c.116G>T (p.Ser39Ile) | |
10 | g.122506807C>A | CA378585689 | HTRA1 | c.894C>A (p.Ser298Arg) c.576C>A (p.Ser192Arg) c.117C>A (p.Ser39Arg) | |
10 | g.122506807C>G | CA378585691 | HTRA1 | c.894C>G (p.Ser298Arg) c.576C>G (p.Ser192Arg) c.117C>G (p.Ser39Arg) | |
10 | g.122506807C>T | CA471666929 | HTRA1 | c.894C>T (p.Ser298=) c.576C>T (p.Ser192=) c.117C>T (p.Ser39=) | |
10 | g.122506808A>C | CA378585693 | HTRA1 | c.895A>C (p.Thr299Pro) c.577A>C (p.Thr193Pro) c.118A>C (p.Thr40Pro) | |
10 | g.122506808A>G | CA378585694 | HTRA1 | c.895A>G (p.Thr299Ala) c.577A>G (p.Thr193Ala) c.118A>G (p.Thr40Ala) | |
10 | g.122506808A>T | CA378585697 | HTRA1 | c.895A>T (p.Thr299Ser) c.577A>T (p.Thr193Ser) c.118A>T (p.Thr40Ser) | |
10 | g.122506809C>A | CA378585699 | HTRA1 | c.896C>A (p.Thr299Asn) c.578C>A (p.Thr193Asn) c.119C>A (p.Thr40Asn) | |
10 | g.122506809C>G | CA378585701 | HTRA1 | c.896C>G (p.Thr299Ser) c.578C>G (p.Thr193Ser) c.119C>G (p.Thr40Ser) | |
10 | g.122506809C>T | CA378585703 | HTRA1 | c.896C>T (p.Thr299Ile) c.578C>T (p.Thr193Ile) c.119C>T (p.Thr40Ile) | |
10 | g.122506810C>A | CA471666930 | HTRA1 | c.897C>A (p.Thr299=) c.579C>A (p.Thr193=) c.120C>A (p.Thr40=) | |
10 | g.122506810C>G | CA471666931 | HTRA1 | c.897C>G (p.Thr299=) c.579C>G (p.Thr193=) c.120C>G (p.Thr40=) | |
10 | g.122506810C>T | CA471666932 | HTRA1 | c.897C>T (p.Thr299=) c.579C>T (p.Thr193=) c.120C>T (p.Thr40=) | |
10 | g.122506811A>C | CA378585705 | HTRA1 | c.898A>C (p.Thr300Pro) c.580A>C (p.Thr194Pro) c.121A>C (p.Thr41Pro) | |
10 | g.122506811A>G | CA378585707 | HTRA1 | c.898A>G (p.Thr300Ala) c.580A>G (p.Thr194Ala) c.121A>G (p.Thr41Ala) | |
10 | g.122506811A>T | CA378585708 | HTRA1 | c.898A>T (p.Thr300Ser) c.580A>T (p.Thr194Ser) c.121A>T (p.Thr41Ser) | |
10 | g.122506812C>A | CA378585711 | HTRA1 | c.899C>A (p.Thr300Asn) c.581C>A (p.Thr194Asn) c.122C>A (p.Thr41Asn) | |
10 | g.122506812C>G | CA378585712 | HTRA1 | c.899C>G (p.Thr300Ser) c.581C>G (p.Thr194Ser) c.122C>G (p.Thr41Ser) | |
10 | g.122506812C>T | CA378585714 | HTRA1 | c.899C>T (p.Thr300Ile) c.581C>T (p.Thr194Ile) c.122C>T (p.Thr41Ile) | |
10 | g.122506813C>A | CA471666936 | HTRA1 | c.900C>A (p.Thr300=) c.582C>A (p.Thr194=) c.123C>A (p.Thr41=) | gnomAD v4 |
10 | g.122506813C= | CA1941477238 | HTRA1 | c.900C= (p.Thr300=) c.582C= (p.Thr194=) c.123C= (p.Thr41=) | |
10 | g.122506813C>G | CA471666937 | HTRA1 | c.900C>G (p.Thr300=) c.582C>G (p.Thr194=) c.123C>G (p.Thr41=) | gnomAD v4 |
10 | g.122506813C>T | CA214411368 | HTRA1 | c.900C>T (p.Thr300=) c.582C>T (p.Thr194=) c.123C>T (p.Thr41=) | dbSNP |
10 | g.122506814C>A | CA378585718 | HTRA1 | c.901C>A (p.Gln301Lys) c.583C>A (p.Gln195Lys) c.124C>A (p.Gln42Lys) | |
10 | g.122506814C>G | CA378585721 | HTRA1 | c.901C>G (p.Gln301Glu) c.583C>G (p.Gln195Glu) c.124C>G (p.Gln42Glu) | |
10 | g.122506814C>T | CA378585717 | HTRA1 | c.901C>T (p.Gln301Ter) c.583C>T (p.Gln195Ter) c.124C>T (p.Gln42Ter) | |
10 | g.122506815A>C | CA378585723 | HTRA1 | c.902A>C (p.Gln301Pro) c.584A>C (p.Gln195Pro) c.125A>C (p.Gln42Pro) | |
10 | g.122506815A>G | CA378585724 | HTRA1 | c.902A>G (p.Gln301Arg) c.584A>G (p.Gln195Arg) c.125A>G (p.Gln42Arg) | |
10 | g.122506815A>T | CA378585726 | HTRA1 | c.902A>T (p.Gln301Leu) c.584A>T (p.Gln195Leu) c.125A>T (p.Gln42Leu) | |
10 | g.122506816G>A | CA471666941 | HTRA1 | c.903G>A (p.Gln301=) c.585G>A (p.Gln195=) c.126G>A (p.Gln42=) | dbSNP |
10 | g.122506816G>C | CA378585727 | HTRA1 | c.903G>C (p.Gln301His) c.585G>C (p.Gln195His) c.126G>C (p.Gln42His) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506816G= | CA1941477239 | HTRA1 | c.903G= (p.Gln301=) c.585G= (p.Gln195=) c.126G= (p.Gln42=) | |
10 | g.122506816G>T | CA378585729 | HTRA1 | c.903G>T (p.Gln301His) c.585G>T (p.Gln195His) c.126G>T (p.Gln42His) | |
10 | g.122506817C>A | CA471666942 | HTRA1 | c.904C>A (p.Arg302=) c.586C>A (p.Arg196=) c.127C>A (p.Arg43=) | gnomAD v4 |
10 | g.122506817C= | CA1941477240 | HTRA1 | c.904C= (p.Arg302=) c.586C= (p.Arg196=) c.127C= (p.Arg43=) | |
10 | g.122506817C>G | CA378585731 | HTRA1 | c.904C>G (p.Arg302Gly) c.586C>G (p.Arg196Gly) c.127C>G (p.Arg43Gly) | |
10 | g.122506817C>T | CA340683 | HTRA1 | c.904C>T (p.Arg302Ter) c.586C>T (p.Arg196Ter) c.127C>T (p.Arg43Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506818G>A | CA378585732 | HTRA1 | c.905G>A (p.Arg302Gln) c.587G>A (p.Arg196Gln) c.128G>A (p.Arg43Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.122506818G>C | CA378585734 | HTRA1 | c.905G>C (p.Arg302Pro) c.587G>C (p.Arg196Pro) c.128G>C (p.Arg43Pro) | |
10 | g.122506818G>T | CA378585735 | HTRA1 | c.905G>T (p.Arg302Leu) c.587G>T (p.Arg196Leu) c.128G>T (p.Arg43Leu) | |
10 | g.122506819A>C | CA471666944 | HTRA1 | c.906A>C (p.Arg302=) c.588A>C (p.Arg196=) c.129A>C (p.Arg43=) | |
10 | g.122506819A>G | CA471666945 | HTRA1 | c.906A>G (p.Arg302=) c.588A>G (p.Arg196=) c.129A>G (p.Arg43=) | |
10 | g.122506819A>T | CA471666946 | HTRA1 | c.906A>T (p.Arg302=) c.588A>T (p.Arg196=) c.129A>T (p.Arg43=) | |
10 | g.122506820G>A | CA5725963 | HTRA1 | c.907G>A (p.Gly303Ser) c.589G>A (p.Gly197Ser) c.130G>A (p.Gly44Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506820G>C | CA378585738 | HTRA1 | c.907G>C (p.Gly303Arg) c.589G>C (p.Gly197Arg) c.130G>C (p.Gly44Arg) | gnomAD v4 |
10 | g.122506820G= | CA1941477241 | HTRA1 | c.907G= (p.Gly303=) c.589G= (p.Gly197=) c.130G= (p.Gly44=) | |
10 | g.122506820G>T | CA378585740 | HTRA1 | c.907G>T (p.Gly303Cys) c.589G>T (p.Gly197Cys) c.130G>T (p.Gly44Cys) | |
10 | g.122506821G>A | CA378585743 | HTRA1 | c.908G>A (p.Gly303Asp) c.590G>A (p.Gly197Asp) c.131G>A (p.Gly44Asp) | |
10 | g.122506821G>C | CA378585742 | HTRA1 | c.908G>C (p.Gly303Ala) c.590G>C (p.Gly197Ala) c.131G>C (p.Gly44Ala) | |
10 | g.122506821G>T | CA378585741 | HTRA1 | c.908G>T (p.Gly303Val) c.590G>T (p.Gly197Val) c.131G>T (p.Gly44Val) | |
10 | g.122506822C>A | CA471666948 | HTRA1 | c.909C>A (p.Gly303=) c.591C>A (p.Gly197=) c.132C>A (p.Gly44=) | |
10 | g.122506822C= | CA1941477242 | HTRA1 | c.909C= (p.Gly303=) c.591C= (p.Gly197=) c.132C= (p.Gly44=) | |
10 | g.122506822C>G | CA471666949 | HTRA1 | c.909C>G (p.Gly303=) c.591C>G (p.Gly197=) c.132C>G (p.Gly44=) | |
10 | g.122506822C>T | CA5725964 | HTRA1 | c.909C>T (p.Gly303=) c.591C>T (p.Gly197=) c.132C>T (p.Gly44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506823G>A | CA378585744 | HTRA1 | c.910G>A (p.Gly304Ser) c.592G>A (p.Gly198Ser) c.133G>A (p.Gly45Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506823G>C | CA378585745 | HTRA1 | c.910G>C (p.Gly304Arg) c.592G>C (p.Gly198Arg) c.133G>C (p.Gly45Arg) | ClinVar |
10 | g.122506823G= | CA1941477243 | HTRA1 | c.910G= (p.Gly304=) c.592G= (p.Gly198=) c.133G= (p.Gly45=) | |
10 | g.122506823G>T | CA378585746 | HTRA1 | c.910G>T (p.Gly304Cys) c.592G>T (p.Gly198Cys) c.133G>T (p.Gly45Cys) | |
10 | g.122506824G>A | CA378585747 | HTRA1 | c.911G>A (p.Gly304Asp) c.593G>A (p.Gly198Asp) c.134G>A (p.Gly45Asp) | COSMIC |
10 | g.122506824G>C | CA378585748 | HTRA1 | c.911G>C (p.Gly304Ala) c.593G>C (p.Gly198Ala) c.134G>C (p.Gly45Ala) | |
10 | g.122506824G>T | CA378585749 | HTRA1 | c.911G>T (p.Gly304Val) c.593G>T (p.Gly198Val) c.134G>T (p.Gly45Val) | |
10 | g.122506825C>A | CA471666955 | HTRA1 | c.912C>A (p.Gly304=) c.594C>A (p.Gly198=) c.135C>A (p.Gly45=) | |
10 | g.122506825C>G | CA471666954 | HTRA1 | c.912C>G (p.Gly304=) c.594C>G (p.Gly198=) c.135C>G (p.Gly45=) | |
10 | g.122506825C>T | CA471666953 | HTRA1 | c.912C>T (p.Gly304=) c.594C>T (p.Gly198=) c.135C>T (p.Gly45=) | |
10 | g.122506826A>C | CA378585750 | HTRA1 | c.913A>C (p.Lys305Gln) c.595A>C (p.Lys199Gln) c.136A>C (p.Lys46Gln) | |
10 | g.122506826A>G | CA378585751 | HTRA1 | c.913A>G (p.Lys305Glu) c.595A>G (p.Lys199Glu) c.136A>G (p.Lys46Glu) | gnomAD v4 |
10 | g.122506826A>T | CA378585752 | HTRA1 | c.913A>T (p.Lys305Ter) c.595A>T (p.Lys199Ter) c.136A>T (p.Lys46Ter) | |
10 | g.122506827A>C | CA378585753 | HTRA1 | c.914A>C (p.Lys305Thr) c.596A>C (p.Lys199Thr) c.137A>C (p.Lys46Thr) | gnomAD v4 |
10 | g.122506827A>G | CA378585754 | HTRA1 | c.914A>G (p.Lys305Arg) c.596A>G (p.Lys199Arg) c.137A>G (p.Lys46Arg) | |
10 | g.122506827A>T | CA378585755 | HTRA1 | c.914A>T (p.Lys305Ile) c.596A>T (p.Lys199Ile) c.137A>T (p.Lys46Ile) | |
10 | g.122506828A>C | CA378585756 | HTRA1 | c.915A>C (p.Lys305Asn) c.597A>C (p.Lys199Asn) c.138A>C (p.Lys46Asn) | |
10 | g.122506828A>G | CA471666956 | HTRA1 | c.915A>G (p.Lys305=) c.597A>G (p.Lys199=) c.138A>G (p.Lys46=) | gnomAD v4 |
10 | g.122506828A>T | CA378585757 | HTRA1 | c.915A>T (p.Lys305Asn) c.597A>T (p.Lys199Asn) c.138A>T (p.Lys46Asn) | |
10 | g.122506829G>A | CA378585759 | HTRA1 | c.916G>A (p.Glu306Lys) c.598G>A (p.Glu200Lys) c.139G>A (p.Glu47Lys) | gnomAD v4 |
10 | g.122506829G>C | CA378585760 | HTRA1 | c.916G>C (p.Glu306Gln) c.598G>C (p.Glu200Gln) c.139G>C (p.Glu47Gln) | |
10 | g.122506829G>T | CA378585758 | HTRA1 | c.916G>T (p.Glu306Ter) c.598G>T (p.Glu200Ter) c.139G>T (p.Glu47Ter) | |
10 | g.122506830A>C | CA378585761 | HTRA1 | c.917A>C (p.Glu306Ala) c.599A>C (p.Glu200Ala) c.140A>C (p.Glu47Ala) | |
10 | g.122506830A>G | CA378585762 | HTRA1 | c.917A>G (p.Glu306Gly) c.599A>G (p.Glu200Gly) c.140A>G (p.Glu47Gly) | |
10 | g.122506830A>T | CA378585763 | HTRA1 | c.917A>T (p.Glu306Val) c.599A>T (p.Glu200Val) c.140A>T (p.Glu47Val) | |
10 | g.122506831G>A | CA471666957 | HTRA1 | c.918G>A (p.Glu306=) c.600G>A (p.Glu200=) c.141G>A (p.Glu47=) | gnomAD v4 |
10 | g.122506831G>C | CA378585764 | HTRA1 | c.918G>C (p.Glu306Asp) c.600G>C (p.Glu200Asp) c.141G>C (p.Glu47Asp) | |
10 | g.122506831G>T | CA378585765 | HTRA1 | c.918G>T (p.Glu306Asp) c.600G>T (p.Glu200Asp) c.141G>T (p.Glu47Asp) | COSMIC |
10 | g.122506832C>A | CA378585766 | HTRA1 | c.919C>A (p.Leu307Met) c.601C>A (p.Leu201Met) c.142C>A (p.Leu48Met) | |
10 | g.122506832C>G | CA378585767 | HTRA1 | c.919C>G (p.Leu307Val) c.601C>G (p.Leu201Val) c.142C>G (p.Leu48Val) | |
10 | g.122506832C>T | CA471666958 | HTRA1 | c.919C>T (p.Leu307=) c.601C>T (p.Leu201=) c.142C>T (p.Leu48=) | gnomAD v4 |
10 | g.122506833T>A | CA378585768 | HTRA1 | c.920T>A (p.Leu307Gln) c.602T>A (p.Leu201Gln) c.143T>A (p.Leu48Gln) | |
10 | g.122506833T>C | CA378585769 | HTRA1 | c.920T>C (p.Leu307Pro) c.602T>C (p.Leu201Pro) c.143T>C (p.Leu48Pro) | |
10 | g.122506833T>G | CA378585770 | HTRA1 | c.920T>G (p.Leu307Arg) c.602T>G (p.Leu201Arg) c.143T>G (p.Leu48Arg) | |
10 | g.122506834G>A | CA471666959 | HTRA1 | c.921G>A (p.Leu307=) c.603G>A (p.Leu201=) c.144G>A (p.Leu48=) | |
10 | g.122506834G>C | CA471666960 | HTRA1 | c.921G>C (p.Leu307=) c.603G>C (p.Leu201=) c.144G>C (p.Leu48=) | |
10 | g.122506834G>T | CA471666961 | HTRA1 | c.921G>T (p.Leu307=) c.603G>T (p.Leu201=) c.144G>T (p.Leu48=) | |
10 | g.122506835G>A | CA378585771 | HTRA1 | c.922G>A (p.Gly308Arg) c.604G>A (p.Gly202Arg) c.145G>A (p.Gly49Arg) | dbSNP gnomAD v4 |
10 | g.122506835G>C | CA378585772 | HTRA1 | c.922G>C (p.Gly308Arg) c.604G>C (p.Gly202Arg) c.145G>C (p.Gly49Arg) | |
10 | g.122506835G= | CA1941477244 | HTRA1 | c.922G= (p.Gly308=) c.604G= (p.Gly202=) c.145G= (p.Gly49=) | |
10 | g.122506835G>T | CA378585773 | HTRA1 | c.922G>T (p.Gly308Trp) c.604G>T (p.Gly202Trp) c.145G>T (p.Gly49Trp) | gnomAD v4 |
10 | g.122506836G>A | CA378585776 | HTRA1 | c.923G>A (p.Gly308Glu) c.605G>A (p.Gly202Glu) c.146G>A (p.Gly49Glu) | dbSNP |
10 | g.122506836G>C | CA378585774 | HTRA1 | c.923G>C (p.Gly308Ala) c.605G>C (p.Gly202Ala) c.146G>C (p.Gly49Ala) | |
10 | g.122506836G= | CA1941477245 | HTRA1 | c.923G= (p.Gly308=) c.605G= (p.Gly202=) c.146G= (p.Gly49=) | |
10 | g.122506836G>T | CA378585775 | HTRA1 | c.923G>T (p.Gly308Val) c.605G>T (p.Gly202Val) c.146G>T (p.Gly49Val) | |
10 | g.122506837G>A | CA471666963 | HTRA1 | c.924G>A (p.Gly308=) c.606G>A (p.Gly202=) c.147G>A (p.Gly49=) | |
10 | g.122506837G>C | CA471666964 | HTRA1 | c.924G>C (p.Gly308=) c.606G>C (p.Gly202=) c.147G>C (p.Gly49=) | |
10 | g.122506837G>T | CA471666965 | HTRA1 | c.924G>T (p.Gly308=) c.606G>T (p.Gly202=) c.147G>T (p.Gly49=) | gnomAD v4 |
10 | g.122506838C>A | CA378585777 | HTRA1 | c.925C>A (p.Leu309Ile) c.607C>A (p.Leu203Ile) c.148C>A (p.Leu50Ile) | |
10 | g.122506838C= | CA1941477246 | HTRA1 | c.925C= (p.Leu309=) c.607C= (p.Leu203=) c.148C= (p.Leu50=) | |
10 | g.122506838C>G | CA378585778 | HTRA1 | c.925C>G (p.Leu309Val) c.607C>G (p.Leu203Val) c.148C>G (p.Leu50Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506838C>T | CA214411405 | HTRA1 | c.925C>T (p.Leu309Phe) c.607C>T (p.Leu203Phe) c.148C>T (p.Leu50Phe) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506839T>A | CA378585779 | HTRA1 | c.926T>A (p.Leu309His) c.608T>A (p.Leu203His) c.149T>A (p.Leu50His) | |
10 | g.122506839T>C | CA378585780 | HTRA1 | c.926T>C (p.Leu309Pro) c.608T>C (p.Leu203Pro) c.149T>C (p.Leu50Pro) | dbSNP |
10 | g.122506839T>G | CA378585781 | HTRA1 | c.926T>G (p.Leu309Arg) c.608T>G (p.Leu203Arg) c.149T>G (p.Leu50Arg) | |
10 | g.122506839T= | CA1941477247 | HTRA1 | c.926T= (p.Leu309=) c.608T= (p.Leu203=) c.149T= (p.Leu50=) | |
10 | g.122506840C>A | CA471666966 | HTRA1 | c.927C>A (p.Leu309=) c.609C>A (p.Leu203=) c.150C>A (p.Leu50=) | |
10 | g.122506840C>G | CA471666967 | HTRA1 | c.927C>G (p.Leu309=) c.609C>G (p.Leu203=) c.150C>G (p.Leu50=) | |
10 | g.122506840C>T | CA471666968 | HTRA1 | c.927C>T (p.Leu309=) c.609C>T (p.Leu203=) c.150C>T (p.Leu50=) | COSMIC |
10 | g.122506841C>A | CA378585782 | HTRA1 | c.928C>A (p.Arg310Ser) c.610C>A (p.Arg204Ser) c.151C>A (p.Arg51Ser) | |
10 | g.122506841C= | CA1941477248 | HTRA1 | c.928C= (p.Arg310=) c.610C= (p.Arg204=) c.151C= (p.Arg51=) | |
10 | g.122506841C>G | CA5725966 | HTRA1 | c.928C>G (p.Arg310Gly) c.610C>G (p.Arg204Gly) c.151C>G (p.Arg51Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506841C>T | CA5725965 | HTRA1 | c.928C>T (p.Arg310Cys) c.610C>T (p.Arg204Cys) c.151C>T (p.Arg51Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506842G>A | CA5725967 | HTRA1 | c.929G>A (p.Arg310His) c.611G>A (p.Arg204His) c.152G>A (p.Arg51His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506842G>C | CA378585783 | HTRA1 | c.929G>C (p.Arg310Pro) c.611G>C (p.Arg204Pro) c.152G>C (p.Arg51Pro) | |
10 | g.122506842G= | CA1941477249 | HTRA1 | c.929G= (p.Arg310=) c.611G= (p.Arg204=) c.152G= (p.Arg51=) | |
10 | g.122506842G>T | CA378585784 | HTRA1 | c.929G>T (p.Arg310Leu) c.611G>T (p.Arg204Leu) c.152G>T (p.Arg51Leu) | |
10 | g.122506843C>A | CA471666970 | HTRA1 | c.930C>A (p.Arg310=) c.612C>A (p.Arg204=) c.153C>A (p.Arg51=) | |
10 | g.122506843C>G | CA471666971 | HTRA1 | c.930C>G (p.Arg310=) c.612C>G (p.Arg204=) c.153C>G (p.Arg51=) | gnomAD v4 |
10 | g.122506843C>T | CA471666972 | HTRA1 | c.930C>T (p.Arg310=) c.612C>T (p.Arg204=) c.153C>T (p.Arg51=) | |
10 | g.122506844A>C | CA378585785 | HTRA1 | c.931A>C (p.Asn311His) c.613A>C (p.Asn205His) c.154A>C (p.Asn52His) | |
10 | g.122506844A>G | CA378585787 | HTRA1 | c.931A>G (p.Asn311Asp) c.613A>G (p.Asn205Asp) c.154A>G (p.Asn52Asp) | |
10 | g.122506844A>T | CA378585786 | HTRA1 | c.931A>T (p.Asn311Tyr) c.613A>T (p.Asn205Tyr) c.154A>T (p.Asn52Tyr) | |
10 | g.122506845A>C | CA378585788 | HTRA1 | c.932A>C (p.Asn311Thr) c.614A>C (p.Asn205Thr) c.155A>C (p.Asn52Thr) | |
10 | g.122506845A>G | CA378585789 | HTRA1 | c.932A>G (p.Asn311Ser) c.614A>G (p.Asn205Ser) c.155A>G (p.Asn52Ser) | |
10 | g.122506845A>T | CA378585790 | HTRA1 | c.932A>T (p.Asn311Ile) c.614A>T (p.Asn205Ile) c.155A>T (p.Asn52Ile) | |
10 | g.122506846C>A | CA378585791 | HTRA1 | c.933C>A (p.Asn311Lys) c.615C>A (p.Asn205Lys) c.156C>A (p.Asn52Lys) | |
10 | g.122506846C>G | CA378585792 | HTRA1 | c.933C>G (p.Asn311Lys) c.615C>G (p.Asn205Lys) c.156C>G (p.Asn52Lys) | |
10 | g.122506846C>T | CA471666973 | HTRA1 | c.933C>T (p.Asn311=) c.615C>T (p.Asn205=) c.156C>T (p.Asn52=) | |
10 | g.122506847T>A | CA378585793 | HTRA1 | c.934T>A (p.Ser312Thr) c.616T>A (p.Ser206Thr) c.157T>A (p.Ser53Thr) | |
10 | g.122506847T>C | CA378585794 | HTRA1 | c.934T>C (p.Ser312Pro) c.616T>C (p.Ser206Pro) c.157T>C (p.Ser53Pro) | |
10 | g.122506847T>G | CA378585795 | HTRA1 | c.934T>G (p.Ser312Ala) c.616T>G (p.Ser206Ala) c.157T>G (p.Ser53Ala) | |
10 | g.122506848C>A | CA378585796 | HTRA1 | c.935C>A (p.Ser312Ter) c.617C>A (p.Ser206Ter) c.158C>A (p.Ser53Ter) | |
10 | g.122506848C= | CA1941477250 | HTRA1 | c.935C= (p.Ser312=) c.617C= (p.Ser206=) c.158C= (p.Ser53=) | |
10 | g.122506848C>G | CA5725968 | HTRA1 | c.935C>G (p.Ser312Ter) c.617C>G (p.Ser206Ter) c.158C>G (p.Ser53Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506848C>T | CA378585797 | HTRA1 | c.935C>T (p.Ser312Leu) c.617C>T (p.Ser206Leu) c.158C>T (p.Ser53Leu) | |
10 | g.122506849A= | CA1941477251 | HTRA1 | c.936A= (p.Ser312=) c.618A= (p.Ser206=) c.159A= (p.Ser53=) | |
10 | g.122506849A>C | CA5725970 | HTRA1 | c.936A>C (p.Ser312=) c.618A>C (p.Ser206=) c.159A>C (p.Ser53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506849A>G | CA5725969 | HTRA1 | c.936A>G (p.Ser312=) c.618A>G (p.Ser206=) c.159A>G (p.Ser53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506849A>T | CA471666974 | HTRA1 | c.936A>T (p.Ser312=) c.618A>T (p.Ser206=) c.159A>T (p.Ser53=) | |
10 | g.122506850G>A | CA378585800 | HTRA1 | c.937G>A (p.Asp313Asn) c.619G>A (p.Asp207Asn) c.160G>A (p.Asp54Asn) | |
10 | g.122506850G>C | CA378585799 | HTRA1 | c.937G>C (p.Asp313His) c.619G>C (p.Asp207His) c.160G>C (p.Asp54His) | |
10 | g.122506850G>T | CA378585798 | HTRA1 | c.937G>T (p.Asp313Tyr) c.619G>T (p.Asp207Tyr) c.160G>T (p.Asp54Tyr) | |
10 | g.122506851A>C | CA378585801 | HTRA1 | c.938A>C (p.Asp313Ala) c.620A>C (p.Asp207Ala) c.161A>C (p.Asp54Ala) | |
10 | g.122506851A>G | CA378585802 | HTRA1 | c.938A>G (p.Asp313Gly) c.620A>G (p.Asp207Gly) c.161A>G (p.Asp54Gly) | |
10 | g.122506851A>T | CA378585803 | HTRA1 | c.938A>T (p.Asp313Val) c.620A>T (p.Asp207Val) c.161A>T (p.Asp54Val) | |
10 | g.122506852C>A | CA378585804 | HTRA1 | c.939C>A (p.Asp313Glu) c.621C>A (p.Asp207Glu) c.162C>A (p.Asp54Glu) | |
10 | g.122506852C>G | CA378585805 | HTRA1 | c.939C>G (p.Asp313Glu) c.621C>G (p.Asp207Glu) c.162C>G (p.Asp54Glu) | |
10 | g.122506852C>T | CA471666975 | HTRA1 | c.939C>T (p.Asp313=) c.621C>T (p.Asp207=) c.162C>T (p.Asp54=) | |
10 | g.122506853A= | CA1941477252 | HTRA1 | c.940A= (p.Met314=) c.622A= (p.Met208=) c.163A= (p.Met55=) | |
10 | g.122506853A>C | CA378585806 | HTRA1 | c.940A>C (p.Met314Leu) c.622A>C (p.Met208Leu) c.163A>C (p.Met55Leu) | |
10 | g.122506853A>G | CA5725971 | HTRA1 | c.940A>G (p.Met314Val) c.622A>G (p.Met208Val) c.163A>G (p.Met55Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506853A>T | CA378585807 | HTRA1 | c.940A>T (p.Met314Leu) c.622A>T (p.Met208Leu) c.163A>T (p.Met55Leu) | |
10 | g.122506854T>A | CA378585808 | HTRA1 | c.941T>A (p.Met314Lys) c.623T>A (p.Met208Lys) c.164T>A (p.Met55Lys) | |
10 | g.122506854T>C | CA5725972 | HTRA1 | c.941T>C (p.Met314Thr) c.623T>C (p.Met208Thr) c.164T>C (p.Met55Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506854T>G | CA378585809 | HTRA1 | c.941T>G (p.Met314Arg) c.623T>G (p.Met208Arg) c.164T>G (p.Met55Arg) | |
10 | g.122506854T= | CA1941477253 | HTRA1 | c.941T= (p.Met314=) c.623T= (p.Met208=) c.164T= (p.Met55=) | |
10 | g.122506855G>A | CA378585810 | HTRA1 | c.942G>A (p.Met314Ile) c.624G>A (p.Met208Ile) c.165G>A (p.Met55Ile) | |
10 | g.122506855G>C | CA378585811 | HTRA1 | c.942G>C (p.Met314Ile) c.624G>C (p.Met208Ile) c.165G>C (p.Met55Ile) | |
10 | g.122506855G>T | CA378585812 | HTRA1 | c.942G>T (p.Met314Ile) c.624G>T (p.Met208Ile) c.165G>T (p.Met55Ile) | |
10 | g.122506856G>A | CA378585814 | HTRA1 | c.943G>A (p.Asp315Asn) c.625G>A (p.Asp209Asn) c.166G>A (p.Asp56Asn) | |
10 | g.122506856G>C | CA378585815 | HTRA1 | c.943G>C (p.Asp315His) c.625G>C (p.Asp209His) c.166G>C (p.Asp56His) | |
10 | g.122506856G>T | CA378585813 | HTRA1 | c.943G>T (p.Asp315Tyr) c.625G>T (p.Asp209Tyr) c.166G>T (p.Asp56Tyr) | |
10 | g.122506857A>C | CA378585816 | HTRA1 | c.944A>C (p.Asp315Ala) c.626A>C (p.Asp209Ala) c.167A>C (p.Asp56Ala) | |
10 | g.122506857A>G | CA378585817 | HTRA1 | c.944A>G (p.Asp315Gly) c.626A>G (p.Asp209Gly) c.167A>G (p.Asp56Gly) | |
10 | g.122506857A>T | CA378585818 | HTRA1 | c.944A>T (p.Asp315Val) c.626A>T (p.Asp209Val) c.167A>T (p.Asp56Val) | |
10 | g.122506858C>A | CA378585820 | HTRA1 | c.945C>A (p.Asp315Glu) c.627C>A (p.Asp209Glu) c.168C>A (p.Asp56Glu) | |
10 | g.122506858C>G | CA378585821 | HTRA1 | c.945C>G (p.Asp315Glu) c.627C>G (p.Asp209Glu) c.168C>G (p.Asp56Glu) | |
10 | g.122506858C>T | CA471666976 | HTRA1 | c.945C>T (p.Asp315=) c.627C>T (p.Asp209=) c.168C>T (p.Asp56=) |