Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122508640_122508643delinsCCTT | CA1941478095 | HTRA1 | c.1006-16_1006-13delinsCCTT (n.1006-16_1006-13delinsCCTT) c.688-16_688-13delinsCCTT (n.688-16_688-13delinsCCTT) c.229-16_229-13delinsCCTT (n.229-16_229-13delinsCCTT) | |
10 | g.122508641C= | CA1941478097 | HTRA1 | c.1006-15C= (n.1006-15C=) c.688-15C= (n.688-15C=) c.229-15C= (n.229-15C=) | |
10 | g.122508641C>T | CA1941478098 | HTRA1 | c.1006-15C>T (n.1006-15C>T) c.688-15C>T (n.688-15C>T) c.229-15C>T (n.229-15C>T) | dbSNP gnomAD v4 |
10 | g.122508644_122508646del | CA5726030 | HTRA1 | c.1006-12_1006-10del (n.1006-12_1006-10del) c.688-12_688-10del (n.688-12_688-10del) c.229-12_229-10del (n.229-12_229-10del) | dbSNP ExAC gnomAD v2 |
10 | g.122508644C>A | CA2611247015 | HTRA1 | c.1006-12C>A (n.1006-12C>A) c.688-12C>A (n.688-12C>A) c.229-12C>A (n.229-12C>A) | gnomAD v4 |
10 | g.122508645T>C | CA660911799 | HTRA1 | c.1006-11T>C (n.1006-11T>C) c.688-11T>C (n.688-11T>C) c.229-11T>C (n.229-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122508645T= | CA1941478099 | HTRA1 | c.1006-11T= (n.1006-11T=) c.688-11T= (n.688-11T=) c.229-11T= (n.229-11T=) | |
10 | g.122508647G>A | CA2611247016 | HTRA1 | c.1006-9G>A (n.1006-9G>A) c.688-9G>A (n.688-9G>A) c.229-9G>A (n.229-9G>A) | gnomAD v4 |
10 | g.122508647G>T | CA2789768277 | HTRA1 | c.1006-9G>T (n.1006-9G>T) c.688-9G>T (n.688-9G>T) c.229-9G>T (n.229-9G>T) | |
10 | g.122508648C>A | CA2611247018 | HTRA1 | c.1006-8C>A (n.1006-8C>A) c.688-8C>A (n.688-8C>A) c.229-8C>A (n.229-8C>A) | gnomAD v4 |
10 | g.122508648C>T | CA2611247017 | HTRA1 | c.1006-8C>T (n.1006-8C>T) c.688-8C>T (n.688-8C>T) c.229-8C>T (n.229-8C>T) | gnomAD v4 |
10 | g.122508650T>C | CA2611247019 | HTRA1 | c.1006-6T>C (n.1006-6T>C) c.688-6T>C (n.688-6T>C) c.229-6T>C (n.229-6T>C) | gnomAD v4 |
10 | g.122508653C>A | CA2611247020 | HTRA1 | c.1006-3C>A (n.1006-3C>A) c.688-3C>A (n.688-3C>A) c.229-3C>A (n.229-3C>A) | gnomAD v4 |
10 | g.122508653C>T | CA2611247021 | HTRA1 | c.1006-3C>T (n.1006-3C>T) c.688-3C>T (n.688-3C>T) c.229-3C>T (n.229-3C>T) | gnomAD v4 |
10 | g.122508654A>C | CA378586276 | HTRA1 | c.1006-2A>C (n.1006-2A>C) c.688-2A>C (n.688-2A>C) c.229-2A>C (n.229-2A>C) | |
10 | g.122508654A>G | CA378586277 | HTRA1 | c.1006-2A>G (n.1006-2A>G) c.688-2A>G (n.688-2A>G) c.229-2A>G (n.229-2A>G) | gnomAD v4 |
10 | g.122508654A>T | CA378586278 | HTRA1 | c.1006-2A>T (n.1006-2A>T) c.688-2A>T (n.688-2A>T) c.229-2A>T (n.229-2A>T) | |
10 | g.122508655G>A | CA378586279 | HTRA1 | c.1006-1G>A (n.1006-1G>A) c.688-1G>A (n.688-1G>A) c.229-1G>A (n.229-1G>A) | dbSNP gnomAD v4 |
10 | g.122508655G>C | CA378586281 | HTRA1 | c.1006-1G>C (n.1006-1G>C) c.688-1G>C (n.688-1G>C) c.229-1G>C (n.229-1G>C) | |
10 | g.122508655G= | CA1941478100 | HTRA1 | c.1006-1G= (n.1006-1G=) c.688-1G= (n.688-1G=) c.229-1G= (n.229-1G=) | |
10 | g.122508655G>T | CA378586285 | HTRA1 | c.1006-1G>T (n.1006-1G>T) c.688-1G>T (n.688-1G>T) c.229-1G>T (n.229-1G>T) | |
10 | g.122508656G>A | CA378586287 | HTRA1 | c.1006G>A (p.Asp336Asn) c.688G>A (p.Asp230Asn) c.229G>A (p.Asp77Asn) | |
10 | g.122508656G>C | CA378586288 | HTRA1 | c.1006G>C (p.Asp336His) c.688G>C (p.Asp230His) c.229G>C (p.Asp77His) | |
10 | g.122508656G>T | CA378586292 | HTRA1 | c.1006G>T (p.Asp336Tyr) c.688G>T (p.Asp230Tyr) c.229G>T (p.Asp77Tyr) | |
10 | g.122508657A>C | CA378586296 | HTRA1 | c.1007A>C (p.Asp336Ala) c.689A>C (p.Asp230Ala) c.230A>C (p.Asp77Ala) | |
10 | g.122508657A>G | CA378586299 | HTRA1 | c.1007A>G (p.Asp336Gly) c.689A>G (p.Asp230Gly) c.230A>G (p.Asp77Gly) | |
10 | g.122508657A>T | CA378586298 | HTRA1 | c.1007A>T (p.Asp336Val) c.689A>T (p.Asp230Val) c.230A>T (p.Asp77Val) | |
10 | g.122508658C>A | CA378586302 | HTRA1 | c.1008C>A (p.Asp336Glu) c.690C>A (p.Asp230Glu) c.231C>A (p.Asp77Glu) | gnomAD v4 |
10 | g.122508658C= | CA1941478101 | HTRA1 | c.1008C= (p.Asp336=) c.690C= (p.Asp230=) c.231C= (p.Asp77=) | |
10 | g.122508658C>G | CA378586306 | HTRA1 | c.1008C>G (p.Asp336Glu) c.690C>G (p.Asp230Glu) c.231C>G (p.Asp77Glu) | |
10 | g.122508658C>T | CA5726031 | HTRA1 | c.1008C>T (p.Asp336=) c.690C>T (p.Asp230=) c.231C>T (p.Asp77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122508659G>A | CA5726032 | HTRA1 | c.1009G>A (p.Gly337Ser) c.691G>A (p.Gly231Ser) c.232G>A (p.Gly78Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122508659G>C | CA378586311 | HTRA1 | c.1009G>C (p.Gly337Arg) c.691G>C (p.Gly231Arg) c.232G>C (p.Gly78Arg) | gnomAD v4 |
10 | g.122508659G= | CA1941478102 | HTRA1 | c.1009G= (p.Gly337=) c.691G= (p.Gly231=) c.232G= (p.Gly78=) | |
10 | g.122508659G>T | CA5726033 | HTRA1 | c.1009G>T (p.Gly337Cys) c.691G>T (p.Gly231Cys) c.232G>T (p.Gly78Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122508660G>A | CA378586313 | HTRA1 | c.1010G>A (p.Gly337Asp) c.692G>A (p.Gly231Asp) c.233G>A (p.Gly78Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508660G>C | CA378586314 | HTRA1 | c.1010G>C (p.Gly337Ala) c.692G>C (p.Gly231Ala) c.233G>C (p.Gly78Ala) | |
10 | g.122508660G= | CA1941478103 | HTRA1 | c.1010G= (p.Gly337=) c.692G= (p.Gly231=) c.233G= (p.Gly78=) | |
10 | g.122508660G>T | CA378586315 | HTRA1 | c.1010G>T (p.Gly337Val) c.692G>T (p.Gly231Val) c.233G>T (p.Gly78Val) | |
10 | g.122508661T>A | CA471667096 | HTRA1 | c.1011T>A (p.Gly337=) c.693T>A (p.Gly231=) c.234T>A (p.Gly78=) | |
10 | g.122508661T>C | CA471667097 | HTRA1 | c.1011T>C (p.Gly337=) c.693T>C (p.Gly231=) c.234T>C (p.Gly78=) | ClinVar gnomAD v4 |
10 | g.122508661T>G | CA471667098 | HTRA1 | c.1011T>G (p.Gly337=) c.693T>G (p.Gly231=) c.234T>G (p.Gly78=) | |
10 | g.122508662G>A | CA378586316 | HTRA1 | c.1012G>A (p.Glu338Lys) c.694G>A (p.Glu232Lys) c.235G>A (p.Glu79Lys) | |
10 | g.122508662G>C | CA378586318 | HTRA1 | c.1012G>C (p.Glu338Gln) c.694G>C (p.Glu232Gln) c.235G>C (p.Glu79Gln) | |
10 | g.122508662G>T | CA378586321 | HTRA1 | c.1012G>T (p.Glu338Ter) c.694G>T (p.Glu232Ter) c.235G>T (p.Glu79Ter) | |
10 | g.122508663A>C | CA378586327 | HTRA1 | c.1013A>C (p.Glu338Ala) c.695A>C (p.Glu232Ala) c.236A>C (p.Glu79Ala) | |
10 | g.122508663A>G | CA378586322 | HTRA1 | c.1013A>G (p.Glu338Gly) c.695A>G (p.Glu232Gly) c.236A>G (p.Glu79Gly) | |
10 | g.122508663A>T | CA378586323 | HTRA1 | c.1013A>T (p.Glu338Val) c.695A>T (p.Glu232Val) c.236A>T (p.Glu79Val) | |
10 | g.122508664A>C | CA378586331 | HTRA1 | c.1014A>C (p.Glu338Asp) c.696A>C (p.Glu232Asp) c.237A>C (p.Glu79Asp) | |
10 | g.122508664A>G | CA471667099 | HTRA1 | c.1014A>G (p.Glu338=) c.696A>G (p.Glu232=) c.237A>G (p.Glu79=) | gnomAD v4 |
10 | g.122508664A>T | CA378586334 | HTRA1 | c.1014A>T (p.Glu338Asp) c.696A>T (p.Glu232Asp) c.237A>T (p.Glu79Asp) | |
10 | g.122508665G>A | CA378586345 | HTRA1 | c.1015G>A (p.Val339Met) c.697G>A (p.Val233Met) c.238G>A (p.Val80Met) | |
10 | g.122508665G>C | CA378586347 | HTRA1 | c.1015G>C (p.Val339Leu) c.697G>C (p.Val233Leu) c.238G>C (p.Val80Leu) | |
10 | g.122508665G>T | CA378586354 | HTRA1 | c.1015G>T (p.Val339Leu) c.697G>T (p.Val233Leu) c.238G>T (p.Val80Leu) | |
10 | g.122508666T>A | CA378586357 | HTRA1 | c.1016T>A (p.Val339Glu) c.698T>A (p.Val233Glu) c.239T>A (p.Val80Glu) | |
10 | g.122508666T>C | CA378586370 | HTRA1 | c.1016T>C (p.Val339Ala) c.698T>C (p.Val233Ala) c.239T>C (p.Val80Ala) | gnomAD v4 |
10 | g.122508666T>G | CA378586372 | HTRA1 | c.1016T>G (p.Val339Gly) c.698T>G (p.Val233Gly) c.239T>G (p.Val80Gly) | |
10 | g.122508667G>A | CA471667102 | HTRA1 | c.1017G>A (p.Val339=) c.699G>A (p.Val233=) c.240G>A (p.Val80=) | |
10 | g.122508667G>C | CA471667101 | HTRA1 | c.1017G>C (p.Val339=) c.699G>C (p.Val233=) c.240G>C (p.Val80=) | |
10 | g.122508667G>T | CA471667100 | HTRA1 | c.1017G>T (p.Val339=) c.699G>T (p.Val233=) c.240G>T (p.Val80=) | gnomAD v4 |
10 | g.122508668A>C | CA378586374 | HTRA1 | c.1018A>C (p.Ile340Leu) c.700A>C (p.Ile234Leu) c.241A>C (p.Ile81Leu) | |
10 | g.122508668A>G | CA378586377 | HTRA1 | c.1018A>G (p.Ile340Val) c.700A>G (p.Ile234Val) c.241A>G (p.Ile81Val) | gnomAD v4 COSMIC |
10 | g.122508668A>T | CA378586381 | HTRA1 | c.1018A>T (p.Ile340Phe) c.700A>T (p.Ile234Phe) c.241A>T (p.Ile81Phe) | |
10 | g.122508669T>A | CA378586390 | HTRA1 | c.1019T>A (p.Ile340Asn) c.701T>A (p.Ile234Asn) c.242T>A (p.Ile81Asn) | |
10 | g.122508669T>C | CA378586393 | HTRA1 | c.1019T>C (p.Ile340Thr) c.701T>C (p.Ile234Thr) c.242T>C (p.Ile81Thr) | |
10 | g.122508669T>G | CA378586385 | HTRA1 | c.1019T>G (p.Ile340Ser) c.701T>G (p.Ile234Ser) c.242T>G (p.Ile81Ser) | |
10 | g.122508670T>A | CA471667103 | HTRA1 | c.1020T>A (p.Ile340=) c.702T>A (p.Ile234=) c.243T>A (p.Ile81=) | |
10 | g.122508670T>C | CA471667104 | HTRA1 | c.1020T>C (p.Ile340=) c.702T>C (p.Ile234=) c.243T>C (p.Ile81=) | |
10 | g.122508670T>G | CA378586395 | HTRA1 | c.1020T>G (p.Ile340Met) c.702T>G (p.Ile234Met) c.243T>G (p.Ile81Met) | |
10 | g.122508671G>A | CA378586399 | HTRA1 | c.1021G>A (p.Gly341Arg) c.703G>A (p.Gly235Arg) c.244G>A (p.Gly82Arg) | |
10 | g.122508671G>C | CA378586403 | HTRA1 | c.1021G>C (p.Gly341Arg) c.703G>C (p.Gly235Arg) c.244G>C (p.Gly82Arg) | |
10 | g.122508671G>T | CA378586406 | HTRA1 | c.1021G>T (p.Gly341Ter) c.703G>T (p.Gly235Ter) c.244G>T (p.Gly82Ter) | |
10 | g.122508672G>A | CA378586413 | HTRA1 | c.1022G>A (p.Gly341Glu) c.704G>A (p.Gly235Glu) c.245G>A (p.Gly82Glu) | |
10 | g.122508672G>C | CA378586420 | HTRA1 | c.1022G>C (p.Gly341Ala) c.704G>C (p.Gly235Ala) c.245G>C (p.Gly82Ala) | |
10 | g.122508672G>T | CA378586424 | HTRA1 | c.1022G>T (p.Gly341Val) c.704G>T (p.Gly235Val) c.245G>T (p.Gly82Val) | |
10 | g.122508673A>C | CA471667105 | HTRA1 | c.1023A>C (p.Gly341=) c.705A>C (p.Gly235=) c.246A>C (p.Gly82=) | |
10 | g.122508673A>G | CA471667106 | HTRA1 | c.1023A>G (p.Gly341=) c.705A>G (p.Gly235=) c.246A>G (p.Gly82=) | |
10 | g.122508673A>T | CA471667107 | HTRA1 | c.1023A>T (p.Gly341=) c.705A>T (p.Gly235=) c.246A>T (p.Gly82=) | |
10 | g.122508675_122508678dup | CA2611247022 | HTRA1 | c.1025_1028dup (p.Thr344Ter) c.707_710dup (p.Thr238Ter) c.248_251dup (p.Thr85Ter) | gnomAD v4 |
10 | g.122508674A>C | CA378586425 | HTRA1 | c.1024A>C (p.Ile342Leu) c.706A>C (p.Ile236Leu) c.247A>C (p.Ile83Leu) | |
10 | g.122508674A>G | CA378586427 | HTRA1 | c.1024A>G (p.Ile342Val) c.706A>G (p.Ile236Val) c.247A>G (p.Ile83Val) | |
10 | g.122508674A>T | CA378586426 | HTRA1 | c.1024A>T (p.Ile342Phe) c.706A>T (p.Ile236Phe) c.247A>T (p.Ile83Phe) | |
10 | g.122508675T>A | CA378586428 | HTRA1 | c.1025T>A (p.Ile342Asn) c.707T>A (p.Ile236Asn) c.248T>A (p.Ile83Asn) | |
10 | g.122508675T>C | CA378586429 | HTRA1 | c.1025T>C (p.Ile342Thr) c.707T>C (p.Ile236Thr) c.248T>C (p.Ile83Thr) | gnomAD v4 |
10 | g.122508675T>G | CA378586432 | HTRA1 | c.1025T>G (p.Ile342Ser) c.707T>G (p.Ile236Ser) c.248T>G (p.Ile83Ser) | |
10 | g.122508676T>A | CA471667108 | HTRA1 | c.1026T>A (p.Ile342=) c.708T>A (p.Ile236=) c.249T>A (p.Ile83=) | |
10 | g.122508676T>C | CA471667109 | HTRA1 | c.1026T>C (p.Ile342=) c.708T>C (p.Ile236=) c.249T>C (p.Ile83=) | |
10 | g.122508676T>G | CA378586435 | HTRA1 | c.1026T>G (p.Ile342Met) c.708T>G (p.Ile236Met) c.249T>G (p.Ile83Met) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122508676T= | CA1941478104 | HTRA1 | c.1026T= (p.Ile342=) c.708T= (p.Ile236=) c.249T= (p.Ile83=) | |
10 | g.122508677A>C | CA378586441 | HTRA1 | c.1027A>C (p.Asn343His) c.709A>C (p.Asn237His) c.250A>C (p.Asn84His) | |
10 | g.122508677A>G | CA378586439 | HTRA1 | c.1027A>G (p.Asn343Asp) c.709A>G (p.Asn237Asp) c.250A>G (p.Asn84Asp) | |
10 | g.122508677A>T | CA378586440 | HTRA1 | c.1027A>T (p.Asn343Tyr) c.709A>T (p.Asn237Tyr) c.250A>T (p.Asn84Tyr) | |
10 | g.122508678A>C | CA378586442 | HTRA1 | c.1028A>C (p.Asn343Thr) c.710A>C (p.Asn237Thr) c.251A>C (p.Asn84Thr) | |
10 | g.122508678A>G | CA378586443 | HTRA1 | c.1028A>G (p.Asn343Ser) c.710A>G (p.Asn237Ser) c.251A>G (p.Asn84Ser) | |
10 | g.122508678A>T | CA378586444 | HTRA1 | c.1028A>T (p.Asn343Ile) c.710A>T (p.Asn237Ile) c.251A>T (p.Asn84Ile) | |
10 | g.122508679C>A | CA378586446 | HTRA1 | c.1029C>A (p.Asn343Lys) c.711C>A (p.Asn237Lys) c.252C>A (p.Asn84Lys) | |
10 | g.122508679C>G | CA378586448 | HTRA1 | c.1029C>G (p.Asn343Lys) c.711C>G (p.Asn237Lys) c.252C>G (p.Asn84Lys) | |
10 | g.122508679C>T | CA471667110 | HTRA1 | c.1029C>T (p.Asn343=) c.711C>T (p.Asn237=) c.252C>T (p.Asn84=) | |
10 | g.122508680A>C | CA378586449 | HTRA1 | c.1030A>C (p.Thr344Pro) c.712A>C (p.Thr238Pro) c.253A>C (p.Thr85Pro) | |
10 | g.122508680A>G | CA378586451 | HTRA1 | c.1030A>G (p.Thr344Ala) c.712A>G (p.Thr238Ala) c.253A>G (p.Thr85Ala) | |
10 | g.122508680A>T | CA378586454 | HTRA1 | c.1030A>T (p.Thr344Ser) c.712A>T (p.Thr238Ser) c.253A>T (p.Thr85Ser) | |
10 | g.122508681C>A | CA378586455 | HTRA1 | c.1031C>A (p.Thr344Asn) c.713C>A (p.Thr238Asn) c.254C>A (p.Thr85Asn) | |
10 | g.122508681C>G | CA378586456 | HTRA1 | c.1031C>G (p.Thr344Ser) c.713C>G (p.Thr238Ser) c.254C>G (p.Thr85Ser) | |
10 | g.122508681C>T | CA378586457 | HTRA1 | c.1031C>T (p.Thr344Ile) c.713C>T (p.Thr238Ile) c.254C>T (p.Thr85Ile) | |
10 | g.122508682T>A | CA471667111 | HTRA1 | c.1032T>A (p.Thr344=) c.714T>A (p.Thr238=) c.255T>A (p.Thr85=) | |
10 | g.122508682T>C | CA471667112 | HTRA1 | c.1032T>C (p.Thr344=) c.714T>C (p.Thr238=) c.255T>C (p.Thr85=) | |
10 | g.122508682T>G | CA471667113 | HTRA1 | c.1032T>G (p.Thr344=) c.714T>G (p.Thr238=) c.255T>G (p.Thr85=) | |
10 | g.122508683T>A | CA378586458 | HTRA1 | c.1033T>A (p.Leu345Met) c.715T>A (p.Leu239Met) c.256T>A (p.Leu86Met) | |
10 | g.122508683T>C | CA471667114 | HTRA1 | c.1033T>C (p.Leu345=) c.715T>C (p.Leu239=) c.256T>C (p.Leu86=) | |
10 | g.122508683T>G | CA378586460 | HTRA1 | c.1033T>G (p.Leu345Val) c.715T>G (p.Leu239Val) c.256T>G (p.Leu86Val) | |
10 | g.122508684T>A | CA378586463 | HTRA1 | c.1034T>A (p.Leu345Ter) c.716T>A (p.Leu239Ter) c.257T>A (p.Leu86Ter) | |
10 | g.122508684T>C | CA378586468 | HTRA1 | c.1034T>C (p.Leu345Ser) c.716T>C (p.Leu239Ser) c.257T>C (p.Leu86Ser) | |
10 | g.122508684T>G | CA378586465 | HTRA1 | c.1034T>G (p.Leu345Trp) c.716T>G (p.Leu239Trp) c.257T>G (p.Leu86Trp) | |
10 | g.122508685G>A | CA471667115 | HTRA1 | c.1035G>A (p.Leu345=) c.717G>A (p.Leu239=) c.258G>A (p.Leu86=) | gnomAD v4 COSMIC |
10 | g.122508685G>C | CA378586470 | HTRA1 | c.1035G>C (p.Leu345Phe) c.717G>C (p.Leu239Phe) c.258G>C (p.Leu86Phe) | |
10 | g.122508685G>T | CA378586472 | HTRA1 | c.1035G>T (p.Leu345Phe) c.717G>T (p.Leu239Phe) c.258G>T (p.Leu86Phe) | |
10 | g.122508686A>C | CA378586474 | HTRA1 | c.1036A>C (p.Lys346Gln) c.718A>C (p.Lys240Gln) c.259A>C (p.Lys87Gln) | gnomAD v4 |
10 | g.122508686A>G | CA378586476 | HTRA1 | c.1036A>G (p.Lys346Glu) c.718A>G (p.Lys240Glu) c.259A>G (p.Lys87Glu) | |
10 | g.122508686A>T | CA378586478 | HTRA1 | c.1036A>T (p.Lys346Ter) c.718A>T (p.Lys240Ter) c.259A>T (p.Lys87Ter) | |
10 | g.122508687A>C | CA378586480 | HTRA1 | c.1037A>C (p.Lys346Thr) c.719A>C (p.Lys240Thr) c.260A>C (p.Lys87Thr) | |
10 | g.122508687A>G | CA378586483 | HTRA1 | c.1037A>G (p.Lys346Arg) c.719A>G (p.Lys240Arg) c.260A>G (p.Lys87Arg) | |
10 | g.122508687A>T | CA378586484 | HTRA1 | c.1037A>T (p.Lys346Ile) c.719A>T (p.Lys240Ile) c.260A>T (p.Lys87Ile) | |
10 | g.122508688A>C | CA378586487 | HTRA1 | c.1038A>C (p.Lys346Asn) c.720A>C (p.Lys240Asn) c.261A>C (p.Lys87Asn) | |
10 | g.122508688A>G | CA471667116 | HTRA1 | c.1038A>G (p.Lys346=) c.720A>G (p.Lys240=) c.261A>G (p.Lys87=) | |
10 | g.122508688A>T | CA378586489 | HTRA1 | c.1038A>T (p.Lys346Asn) c.720A>T (p.Lys240Asn) c.261A>T (p.Lys87Asn) | |
10 | g.122508689G>A | CA378586493 | HTRA1 | c.1039G>A (p.Val347Met) c.721G>A (p.Val241Met) c.262G>A (p.Val88Met) | |
10 | g.122508689G>C | CA378586496 | HTRA1 | c.1039G>C (p.Val347Leu) c.721G>C (p.Val241Leu) c.262G>C (p.Val88Leu) | |
10 | g.122508689G>T | CA378586500 | HTRA1 | c.1039G>T (p.Val347Leu) c.721G>T (p.Val241Leu) c.262G>T (p.Val88Leu) | |
10 | g.122508690T>A | CA378586509 | HTRA1 | c.1040T>A (p.Val347Glu) c.722T>A (p.Val241Glu) c.263T>A (p.Val88Glu) | |
10 | g.122508690T>C | CA378586503 | HTRA1 | c.1040T>C (p.Val347Ala) c.722T>C (p.Val241Ala) c.263T>C (p.Val88Ala) | |
10 | g.122508690T>G | CA378586506 | HTRA1 | c.1040T>G (p.Val347Gly) c.722T>G (p.Val241Gly) c.263T>G (p.Val88Gly) | |
10 | g.122508691G>A | CA471667119 | HTRA1 | c.1041G>A (p.Val347=) c.723G>A (p.Val241=) c.264G>A (p.Val88=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508691G>C | CA471667117 | HTRA1 | c.1041G>C (p.Val347=) c.723G>C (p.Val241=) c.264G>C (p.Val88=) | |
10 | g.122508691G= | CA1941478105 | HTRA1 | c.1041G= (p.Val347=) c.723G= (p.Val241=) c.264G= (p.Val88=) | |
10 | g.122508691G>T | CA471667118 | HTRA1 | c.1041G>T (p.Val347=) c.723G>T (p.Val241=) c.264G>T (p.Val88=) | |
10 | g.122508692A>C | CA378586513 | HTRA1 | c.1042A>C (p.Thr348Pro) c.724A>C (p.Thr242Pro) c.265A>C (p.Thr89Pro) | |
10 | g.122508692A>G | CA378586514 | HTRA1 | c.1042A>G (p.Thr348Ala) c.724A>G (p.Thr242Ala) c.265A>G (p.Thr89Ala) | |
10 | g.122508692A>T | CA378586517 | HTRA1 | c.1042A>T (p.Thr348Ser) c.724A>T (p.Thr242Ser) c.265A>T (p.Thr89Ser) | |
10 | g.122508693C>A | CA378586522 | HTRA1 | c.1043C>A (p.Thr348Lys) c.725C>A (p.Thr242Lys) c.266C>A (p.Thr89Lys) | |
10 | g.122508693C>G | CA378586528 | HTRA1 | c.1043C>G (p.Thr348Arg) c.725C>G (p.Thr242Arg) c.266C>G (p.Thr89Arg) | |
10 | g.122508693C>T | CA378586531 | HTRA1 | c.1043C>T (p.Thr348Ile) c.725C>T (p.Thr242Ile) c.266C>T (p.Thr89Ile) | |
10 | g.122508694A>C | CA471667120 | HTRA1 | c.1044A>C (p.Thr348=) c.726A>C (p.Thr242=) c.267A>C (p.Thr89=) | |
10 | g.122508694A>G | CA471667122 | HTRA1 | c.1044A>G (p.Thr348=) c.726A>G (p.Thr242=) c.267A>G (p.Thr89=) | |
10 | g.122508694A>T | CA471667121 | HTRA1 | c.1044A>T (p.Thr348=) c.726A>T (p.Thr242=) c.267A>T (p.Thr89=) | |
10 | g.122508695G>A | CA378586534 | HTRA1 | c.1045G>A (p.Ala349Thr) c.727G>A (p.Ala243Thr) c.268G>A (p.Ala90Thr) | |
10 | g.122508695G>C | CA378586535 | HTRA1 | c.1045G>C (p.Ala349Pro) c.727G>C (p.Ala243Pro) c.268G>C (p.Ala90Pro) | |
10 | g.122508695G>T | CA378586538 | HTRA1 | c.1045G>T (p.Ala349Ser) c.727G>T (p.Ala243Ser) c.268G>T (p.Ala90Ser) | |
10 | g.122508696C>A | CA378586540 | HTRA1 | c.1046C>A (p.Ala349Asp) c.728C>A (p.Ala243Asp) c.269C>A (p.Ala90Asp) | |
10 | g.122508696C= | CA1941478106 | HTRA1 | c.1046C= (p.Ala349=) c.728C= (p.Ala243=) c.269C= (p.Ala90=) | |
10 | g.122508696C>G | CA378586543 | HTRA1 | c.1046C>G (p.Ala349Gly) c.728C>G (p.Ala243Gly) c.269C>G (p.Ala90Gly) | |
10 | g.122508696C>T | CA378586545 | HTRA1 | c.1046C>T (p.Ala349Val) c.728C>T (p.Ala243Val) c.269C>T (p.Ala90Val) | dbSNP gnomAD v4 |
10 | g.122508697T>A | CA471667123 | HTRA1 | c.1047T>A (p.Ala349=) c.729T>A (p.Ala243=) c.270T>A (p.Ala90=) | |
10 | g.122508697T>C | CA471667125 | HTRA1 | c.1047T>C (p.Ala349=) c.729T>C (p.Ala243=) c.270T>C (p.Ala90=) | |
10 | g.122508697T>G | CA471667126 | HTRA1 | c.1047T>G (p.Ala349=) c.729T>G (p.Ala243=) c.270T>G (p.Ala90=) | |
10 | g.122508698G>A | CA378586549 | HTRA1 | c.1048G>A (p.Gly350Arg) c.730G>A (p.Gly244Arg) c.271G>A (p.Gly91Arg) | ClinVar dbSNP |
10 | g.122508698G>C | CA378586551 | HTRA1 | c.1048G>C (p.Gly350Arg) c.730G>C (p.Gly244Arg) c.271G>C (p.Gly91Arg) | |
10 | g.122508698G>T | CA378586547 | HTRA1 | c.1048G>T (p.Gly350Ter) c.730G>T (p.Gly244Ter) c.271G>T (p.Gly91Ter) | |
10 | g.122508699G>A | CA378586557 | HTRA1 | c.1049G>A (p.Gly350Glu) c.731G>A (p.Gly244Glu) c.272G>A (p.Gly91Glu) | |
10 | g.122508699G>C | CA378586554 | HTRA1 | c.1049G>C (p.Gly350Ala) c.731G>C (p.Gly244Ala) c.272G>C (p.Gly91Ala) | |
10 | g.122508699G>T | CA378586560 | HTRA1 | c.1049G>T (p.Gly350Val) c.731G>T (p.Gly244Val) c.272G>T (p.Gly91Val) | COSMIC |
10 | g.122508700A>C | CA471667127 | HTRA1 | c.1050A>C (p.Gly350=) c.732A>C (p.Gly244=) c.273A>C (p.Gly91=) | |
10 | g.122508700A>G | CA471667128 | HTRA1 | c.1050A>G (p.Gly350=) c.732A>G (p.Gly244=) c.273A>G (p.Gly91=) | |
10 | g.122508700A>T | CA471667129 | HTRA1 | c.1050A>T (p.Gly350=) c.732A>T (p.Gly244=) c.273A>T (p.Gly91=) | |
10 | g.122508701A>C | CA378586562 | HTRA1 | c.1051A>C (p.Ile351Leu) c.733A>C (p.Ile245Leu) c.274A>C (p.Ile92Leu) | |
10 | g.122508701A>G | CA378586565 | HTRA1 | c.1051A>G (p.Ile351Val) c.733A>G (p.Ile245Val) c.274A>G (p.Ile92Val) | |
10 | g.122508701A>T | CA378586566 | HTRA1 | c.1051A>T (p.Ile351Phe) c.733A>T (p.Ile245Phe) c.274A>T (p.Ile92Phe) | |
10 | g.122508702T>A | CA378586569 | HTRA1 | c.1052T>A (p.Ile351Asn) c.734T>A (p.Ile245Asn) c.275T>A (p.Ile92Asn) | |
10 | g.122508702T>C | CA378586572 | HTRA1 | c.1052T>C (p.Ile351Thr) c.734T>C (p.Ile245Thr) c.275T>C (p.Ile92Thr) | |
10 | g.122508702T>G | CA378586574 | HTRA1 | c.1052T>G (p.Ile351Ser) c.734T>G (p.Ile245Ser) c.275T>G (p.Ile92Ser) | |
10 | g.122508703C>A | CA471667130 | HTRA1 | c.1053C>A (p.Ile351=) c.735C>A (p.Ile245=) c.276C>A (p.Ile92=) | |
10 | g.122508703C>G | CA378586577 | HTRA1 | c.1053C>G (p.Ile351Met) c.735C>G (p.Ile245Met) c.276C>G (p.Ile92Met) | |
10 | g.122508703C>T | CA471667131 | HTRA1 | c.1053C>T (p.Ile351=) c.735C>T (p.Ile245=) c.276C>T (p.Ile92=) | |
10 | g.122508704T>A | CA378586578 | HTRA1 | c.1054T>A (p.Ser352Thr) c.736T>A (p.Ser246Thr) c.277T>A (p.Ser93Thr) | |
10 | g.122508704T>C | CA378586580 | HTRA1 | c.1054T>C (p.Ser352Pro) c.736T>C (p.Ser246Pro) c.277T>C (p.Ser93Pro) | |
10 | g.122508704T>G | CA378586582 | HTRA1 | c.1054T>G (p.Ser352Ala) c.736T>G (p.Ser246Ala) c.277T>G (p.Ser93Ala) | |
10 | g.122508705C>A | CA378586585 | HTRA1 | c.1055C>A (p.Ser352Tyr) c.737C>A (p.Ser246Tyr) c.278C>A (p.Ser93Tyr) | |
10 | g.122508705C>G | CA378586587 | HTRA1 | c.1055C>G (p.Ser352Cys) c.737C>G (p.Ser246Cys) c.278C>G (p.Ser93Cys) | |
10 | g.122508705C>T | CA378586590 | HTRA1 | c.1055C>T (p.Ser352Phe) c.737C>T (p.Ser246Phe) c.278C>T (p.Ser93Phe) | |
10 | g.122508706C>A | CA471667132 | HTRA1 | c.1056C>A (p.Ser352=) c.738C>A (p.Ser246=) c.279C>A (p.Ser93=) | |
10 | g.122508706C>G | CA471667133 | HTRA1 | c.1056C>G (p.Ser352=) c.738C>G (p.Ser246=) c.279C>G (p.Ser93=) | |
10 | g.122508706C>T | CA471667134 | HTRA1 | c.1056C>T (p.Ser352=) c.738C>T (p.Ser246=) c.279C>T (p.Ser93=) | gnomAD v4 COSMIC |
10 | g.122508707T>A | CA378586608 | HTRA1 | c.1057T>A (p.Phe353Ile) c.739T>A (p.Phe247Ile) c.280T>A (p.Phe94Ile) | |
10 | g.122508707T>C | CA378586593 | HTRA1 | c.1057T>C (p.Phe353Leu) c.739T>C (p.Phe247Leu) c.280T>C (p.Phe94Leu) | |
10 | g.122508707T>G | CA378586596 | HTRA1 | c.1057T>G (p.Phe353Val) c.739T>G (p.Phe247Val) c.280T>G (p.Phe94Val) | |
10 | g.122508708T>A | CA378586611 | HTRA1 | c.1058T>A (p.Phe353Tyr) c.740T>A (p.Phe247Tyr) c.281T>A (p.Phe94Tyr) | |
10 | g.122508708T>C | CA378586622 | HTRA1 | c.1058T>C (p.Phe353Ser) c.740T>C (p.Phe247Ser) c.281T>C (p.Phe94Ser) | |
10 | g.122508708T>G | CA378586625 | HTRA1 | c.1058T>G (p.Phe353Cys) c.740T>G (p.Phe247Cys) c.281T>G (p.Phe94Cys) | gnomAD v4 |
10 | g.122508709T>A | CA378586628 | HTRA1 | c.1059T>A (p.Phe353Leu) c.741T>A (p.Phe247Leu) c.282T>A (p.Phe94Leu) | |
10 | g.122508709T>C | CA471667135 | HTRA1 | c.1059T>C (p.Phe353=) c.741T>C (p.Phe247=) c.282T>C (p.Phe94=) | gnomAD v4 |
10 | g.122508709T>G | CA378586631 | HTRA1 | c.1059T>G (p.Phe353Leu) c.741T>G (p.Phe247Leu) c.282T>G (p.Phe94Leu) | |
10 | g.122508710G>A | CA378586637 | HTRA1 | c.1060G>A (p.Ala354Thr) c.742G>A (p.Ala248Thr) c.283G>A (p.Ala95Thr) | |
10 | g.122508710G>C | CA378586639 | HTRA1 | c.1060G>C (p.Ala354Pro) c.742G>C (p.Ala248Pro) c.283G>C (p.Ala95Pro) | |
10 | g.122508710G>T | CA378586640 | HTRA1 | c.1060G>T (p.Ala354Ser) c.742G>T (p.Ala248Ser) c.283G>T (p.Ala95Ser) | |
10 | g.122508711C>A | CA378586641 | HTRA1 | c.1061C>A (p.Ala354Glu) c.743C>A (p.Ala248Glu) c.284C>A (p.Ala95Glu) | |
10 | g.122508711C>G | CA378586642 | HTRA1 | c.1061C>G (p.Ala354Gly) c.743C>G (p.Ala248Gly) c.284C>G (p.Ala95Gly) | |
10 | g.122508711C>T | CA378586643 | HTRA1 | c.1061C>T (p.Ala354Val) c.743C>T (p.Ala248Val) c.284C>T (p.Ala95Val) | gnomAD v4 |
10 | g.122508712A>C | CA471667136 | HTRA1 | c.1062A>C (p.Ala354=) c.744A>C (p.Ala248=) c.285A>C (p.Ala95=) | |
10 | g.122508712A>G | CA471667137 | HTRA1 | c.1062A>G (p.Ala354=) c.744A>G (p.Ala248=) c.285A>G (p.Ala95=) | |
10 | g.122508712A>T | CA471667138 | HTRA1 | c.1062A>T (p.Ala354=) c.744A>T (p.Ala248=) c.285A>T (p.Ala95=) | |
10 | g.122508713A>C | CA378586649 | HTRA1 | c.1063A>C (p.Ile355Leu) c.745A>C (p.Ile249Leu) c.286A>C (p.Ile96Leu) | |
10 | g.122508713A>G | CA378586647 | HTRA1 | c.1063A>G (p.Ile355Val) c.745A>G (p.Ile249Val) c.286A>G (p.Ile96Val) | gnomAD v4 |
10 | g.122508713A>T | CA378586644 | HTRA1 | c.1063A>T (p.Ile355Phe) c.745A>T (p.Ile249Phe) c.286A>T (p.Ile96Phe) | |
10 | g.122508714T>A | CA378586652 | HTRA1 | c.1064T>A (p.Ile355Asn) c.746T>A (p.Ile249Asn) c.287T>A (p.Ile96Asn) | |
10 | g.122508714T>C | CA378586654 | HTRA1 | c.1064T>C (p.Ile355Thr) c.746T>C (p.Ile249Thr) c.287T>C (p.Ile96Thr) | gnomAD v4 |
10 | g.122508714T>G | CA378586657 | HTRA1 | c.1064T>G (p.Ile355Ser) c.746T>G (p.Ile249Ser) c.287T>G (p.Ile96Ser) | |
10 | g.122508715C>A | CA471667139 | HTRA1 | c.1065C>A (p.Ile355=) c.747C>A (p.Ile249=) c.288C>A (p.Ile96=) | gnomAD v4 |
10 | g.122508715C= | CA1941478107 | HTRA1 | c.1065C= (p.Ile355=) c.747C= (p.Ile249=) c.288C= (p.Ile96=) | |
10 | g.122508715C>G | CA378586659 | HTRA1 | c.1065C>G (p.Ile355Met) c.747C>G (p.Ile249Met) c.288C>G (p.Ile96Met) | |
10 | g.122508715C>T | CA5726034 | HTRA1 | c.1065C>T (p.Ile355=) c.747C>T (p.Ile249=) c.288C>T (p.Ile96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508716C>A | CA378586667 | HTRA1 | c.1066C>A (p.Pro356Thr) c.748C>A (p.Pro250Thr) c.289C>A (p.Pro97Thr) | |
10 | g.122508716C>G | CA378586664 | HTRA1 | c.1066C>G (p.Pro356Ala) c.748C>G (p.Pro250Ala) c.289C>G (p.Pro97Ala) | |
10 | g.122508716C>T | CA378586662 | HTRA1 | c.1066C>T (p.Pro356Ser) c.748C>T (p.Pro250Ser) c.289C>T (p.Pro97Ser) | |
10 | g.122508717C>A | CA378586670 | HTRA1 | c.1067C>A (p.Pro356Gln) c.749C>A (p.Pro250Gln) c.290C>A (p.Pro97Gln) | |
10 | g.122508717C>G | CA378586673 | HTRA1 | c.1067C>G (p.Pro356Arg) c.749C>G (p.Pro250Arg) c.290C>G (p.Pro97Arg) | |
10 | g.122508717C>T | CA378586674 | HTRA1 | c.1067C>T (p.Pro356Leu) c.749C>T (p.Pro250Leu) c.290C>T (p.Pro97Leu) | gnomAD v4 |
10 | g.122508718A>C | CA471667140 | HTRA1 | c.1068A>C (p.Pro356=) c.750A>C (p.Pro250=) c.291A>C (p.Pro97=) | |
10 | g.122508718A>G | CA471667141 | HTRA1 | c.1068A>G (p.Pro356=) c.750A>G (p.Pro250=) c.291A>G (p.Pro97=) | |
10 | g.122508718A>T | CA471667142 | HTRA1 | c.1068A>T (p.Pro356=) c.750A>T (p.Pro250=) c.291A>T (p.Pro97=) | |
10 | g.122508719T>A | CA378586676 | HTRA1 | c.1069T>A (p.Ser357Thr) c.751T>A (p.Ser251Thr) c.292T>A (p.Ser98Thr) | |
10 | g.122508719T>C | CA378586678 | HTRA1 | c.1069T>C (p.Ser357Pro) c.751T>C (p.Ser251Pro) c.292T>C (p.Ser98Pro) | |
10 | g.122508719T>G | CA378586680 | HTRA1 | c.1069T>G (p.Ser357Ala) c.751T>G (p.Ser251Ala) c.292T>G (p.Ser98Ala) | |
10 | g.122508720C>A | CA378586683 | HTRA1 | c.1070C>A (p.Ser357Tyr) c.752C>A (p.Ser251Tyr) c.293C>A (p.Ser98Tyr) | |
10 | g.122508720C= | CA1941478108 | HTRA1 | c.1070C= (p.Ser357=) c.752C= (p.Ser251=) c.293C= (p.Ser98=) | |
10 | g.122508720C>G | CA378586687 | HTRA1 | c.1070C>G (p.Ser357Cys) c.752C>G (p.Ser251Cys) c.293C>G (p.Ser98Cys) | |
10 | g.122508720C>T | CA378586685 | HTRA1 | c.1070C>T (p.Ser357Phe) c.752C>T (p.Ser251Phe) c.293C>T (p.Ser98Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508721T>A | CA471667143 | HTRA1 | c.1071T>A (p.Ser357=) c.753T>A (p.Ser251=) c.294T>A (p.Ser98=) | |
10 | g.122508721T>C | CA471667144 | HTRA1 | c.1071T>C (p.Ser357=) c.753T>C (p.Ser251=) c.294T>C (p.Ser98=) | |
10 | g.122508721T>G | CA471667145 | HTRA1 | c.1071T>G (p.Ser357=) c.753T>G (p.Ser251=) c.294T>G (p.Ser98=) | |
10 | g.122508722G>A | CA378586691 | HTRA1 | c.1072G>A (p.Asp358Asn) c.754G>A (p.Asp252Asn) c.295G>A (p.Asp99Asn) | |
10 | g.122508722G>C | CA378586692 | HTRA1 | c.1072G>C (p.Asp358His) c.754G>C (p.Asp252His) c.295G>C (p.Asp99His) | COSMIC |
10 | g.122508722G= | CA1941478109 | HTRA1 | c.1072G= (p.Asp358=) c.754G= (p.Asp252=) c.295G= (p.Asp99=) | |
10 | g.122508722G>T | CA378586695 | HTRA1 | c.1072G>T (p.Asp358Tyr) c.754G>T (p.Asp252Tyr) c.295G>T (p.Asp99Tyr) | |
10 | g.122508723A>C | CA378586700 | HTRA1 | c.1073A>C (p.Asp358Ala) c.755A>C (p.Asp252Ala) c.296A>C (p.Asp99Ala) | |
10 | g.122508723A>G | CA378586703 | HTRA1 | c.1073A>G (p.Asp358Gly) c.755A>G (p.Asp252Gly) c.296A>G (p.Asp99Gly) | gnomAD v4 |
10 | g.122508723A>T | CA378586707 | HTRA1 | c.1073A>T (p.Asp358Val) c.755A>T (p.Asp252Val) c.296A>T (p.Asp99Val) | |
10 | g.122508724_122508732dup | CA933345350 | HTRA1 | c.1074_1082dup (p.Ile360_Lys361insAsnLysIle) c.756_764dup (p.Ile254_Lys255insAsnLysIle) c.297_305dup (p.Ile101_Lys102insAsnLysIle) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122508724T>A | CA378586711 | HTRA1 | c.1074T>A (p.Asp358Glu) c.756T>A (p.Asp252Glu) c.297T>A (p.Asp99Glu) | dbSNP |
10 | g.122508724T>C | CA471667146 | HTRA1 | c.1074T>C (p.Asp358=) c.756T>C (p.Asp252=) c.297T>C (p.Asp99=) | dbSNP |
10 | g.122508724T>G | CA378586716 | HTRA1 | c.1074T>G (p.Asp358Glu) c.756T>G (p.Asp252Glu) c.297T>G (p.Asp99Glu) | |
10 | g.122508724T= | CA1941478110 | HTRA1 | c.1074T= (p.Asp358=) c.756T= (p.Asp252=) c.297T= (p.Asp99=) | |
10 | g.122508725A>C | CA378586718 | HTRA1 | c.1075A>C (p.Lys359Gln) c.757A>C (p.Lys253Gln) c.298A>C (p.Lys100Gln) | |
10 | g.122508725A>G | CA378586720 | HTRA1 | c.1075A>G (p.Lys359Glu) c.757A>G (p.Lys253Glu) c.298A>G (p.Lys100Glu) | gnomAD v4 |
10 | g.122508725A>T | CA378586723 | HTRA1 | c.1075A>T (p.Lys359Ter) c.757A>T (p.Lys253Ter) c.298A>T (p.Lys100Ter) | |
10 | g.122508726A= | CA1941478111 | HTRA1 | c.1076A= (p.Lys359=) c.758A= (p.Lys253=) c.299A= (p.Lys100=) | |
10 | g.122508726A>C | CA378586731 | HTRA1 | c.1076A>C (p.Lys359Thr) c.758A>C (p.Lys253Thr) c.299A>C (p.Lys100Thr) | dbSNP gnomAD v4 |
10 | g.122508726A>G | CA5726035 | HTRA1 | c.1076A>G (p.Lys359Arg) c.758A>G (p.Lys253Arg) c.299A>G (p.Lys100Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508726A>T | CA378586727 | HTRA1 | c.1076A>T (p.Lys359Met) c.758A>T (p.Lys253Met) c.299A>T (p.Lys100Met) | |
10 | g.122508727del | CA2611247023 | HTRA1 | c.1077del (p.Ile360LeufsTer28) c.759del (p.Ile254LeufsTer28) c.300del (p.Ile101LeufsTer28) | gnomAD v4 |
10 | g.122508727G>A | CA471667147 | HTRA1 | c.1077G>A (p.Lys359=) c.759G>A (p.Lys253=) c.300G>A (p.Lys100=) | |
10 | g.122508727G>C | CA378586733 | HTRA1 | c.1077G>C (p.Lys359Asn) c.759G>C (p.Lys253Asn) c.300G>C (p.Lys100Asn) | |
10 | g.122508727G>T | CA378586735 | HTRA1 | c.1077G>T (p.Lys359Asn) c.759G>T (p.Lys253Asn) c.300G>T (p.Lys100Asn) | |
10 | g.122508728A= | CA1941478112 | HTRA1 | c.1078A= (p.Ile360=) c.760A= (p.Ile254=) c.301A= (p.Ile101=) | |
10 | g.122508728A>C | CA378586739 | HTRA1 | c.1078A>C (p.Ile360Leu) c.760A>C (p.Ile254Leu) c.301A>C (p.Ile101Leu) | |
10 | g.122508728A>G | CA378586742 | HTRA1 | c.1078A>G (p.Ile360Val) c.760A>G (p.Ile254Val) c.301A>G (p.Ile101Val) | dbSNP |
10 | g.122508728A>T | CA378586744 | HTRA1 | c.1078A>T (p.Ile360Phe) c.760A>T (p.Ile254Phe) c.301A>T (p.Ile101Phe) | |
10 | g.122508729T>A | CA378586745 | HTRA1 | c.1079T>A (p.Ile360Asn) c.761T>A (p.Ile254Asn) c.302T>A (p.Ile101Asn) | |
10 | g.122508729T>C | CA378586748 | HTRA1 | c.1079T>C (p.Ile360Thr) c.761T>C (p.Ile254Thr) c.302T>C (p.Ile101Thr) | gnomAD v4 |
10 | g.122508729T>G | CA378586749 | HTRA1 | c.1079T>G (p.Ile360Ser) c.761T>G (p.Ile254Ser) c.302T>G (p.Ile101Ser) | |
10 | g.122508730del | CA2574697866 | HTRA1 | c.1080del (p.Lys362SerfsTer26) c.762del (p.Lys256SerfsTer26) c.303del (p.Lys103SerfsTer26) | |
10 | g.122508730T>A | CA471667148 | HTRA1 | c.1080T>A (p.Ile360=) c.762T>A (p.Ile254=) c.303T>A (p.Ile101=) | |
10 | g.122508730T>C | CA471667149 | HTRA1 | c.1080T>C (p.Ile360=) c.762T>C (p.Ile254=) c.303T>C (p.Ile101=) | |
10 | g.122508730T>G | CA378586751 | HTRA1 | c.1080T>G (p.Ile360Met) c.762T>G (p.Ile254Met) c.303T>G (p.Ile101Met) | |
10 | g.122508731A>C | CA378586753 | HTRA1 | c.1081A>C (p.Lys361Gln) c.763A>C (p.Lys255Gln) c.304A>C (p.Lys102Gln) | |
10 | g.122508731A>G | CA378586756 | HTRA1 | c.1081A>G (p.Lys361Glu) c.763A>G (p.Lys255Glu) c.304A>G (p.Lys102Glu) | |
10 | g.122508731A>T | CA378586758 | HTRA1 | c.1081A>T (p.Lys361Ter) c.763A>T (p.Lys255Ter) c.304A>T (p.Lys102Ter) | |
10 | g.122508732A>C | CA378586759 | HTRA1 | c.1082A>C (p.Lys361Thr) c.764A>C (p.Lys255Thr) c.305A>C (p.Lys102Thr) | |
10 | g.122508732A>G | CA378586761 | HTRA1 | c.1082A>G (p.Lys361Arg) c.764A>G (p.Lys255Arg) c.305A>G (p.Lys102Arg) | gnomAD v4 |
10 | g.122508732A>T | CA378586763 | HTRA1 | c.1082A>T (p.Lys361Ile) c.764A>T (p.Lys255Ile) c.305A>T (p.Lys102Ile) | |
10 | g.122508733A>C | CA378586775 | HTRA1 | c.1083A>C (p.Lys361Asn) c.765A>C (p.Lys255Asn) c.306A>C (p.Lys102Asn) | |
10 | g.122508733A>G | CA471667150 | HTRA1 | c.1083A>G (p.Lys361=) c.765A>G (p.Lys255=) c.306A>G (p.Lys102=) | |
10 | g.122508733A>T | CA378586777 | HTRA1 | c.1083A>T (p.Lys361Asn) c.765A>T (p.Lys255Asn) c.306A>T (p.Lys102Asn) | |
10 | g.122508734A>C | CA378586781 | HTRA1 | c.1084A>C (p.Lys362Gln) c.766A>C (p.Lys256Gln) c.307A>C (p.Lys103Gln) | gnomAD v4 |
10 | g.122508734A>G | CA378586783 | HTRA1 | c.1084A>G (p.Lys362Glu) c.766A>G (p.Lys256Glu) c.307A>G (p.Lys103Glu) | |
10 | g.122508734A>T | CA378586786 | HTRA1 | c.1084A>T (p.Lys362Ter) c.766A>T (p.Lys256Ter) c.307A>T (p.Lys103Ter) | |
10 | g.122508735A>C | CA378586788 | HTRA1 | c.1085A>C (p.Lys362Thr) c.767A>C (p.Lys256Thr) c.308A>C (p.Lys103Thr) | |
10 | g.122508735A>G | CA378586790 | HTRA1 | c.1085A>G (p.Lys362Arg) c.767A>G (p.Lys256Arg) c.308A>G (p.Lys103Arg) | |
10 | g.122508735A>T | CA378586795 | HTRA1 | c.1085A>T (p.Lys362Met) c.767A>T (p.Lys256Met) c.308A>T (p.Lys103Met) | |
10 | g.122508736del | CA2611247024 | HTRA1 | c.1086del (p.Lys362AsnfsTer26) c.768del (p.Lys256AsnfsTer26) c.309del (p.Lys103AsnfsTer26) | gnomAD v4 |
10 | g.122508736G>A | CA5726037 | HTRA1 | c.1086G>A (p.Lys362=) c.768G>A (p.Lys256=) c.309G>A (p.Lys103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508736G>C | CA5726038 | HTRA1 | c.1086G>C (p.Lys362Asn) c.768G>C (p.Lys256Asn) c.309G>C (p.Lys103Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508736G= | CA1941478113 | HTRA1 | c.1086G= (p.Lys362=) c.768G= (p.Lys256=) c.309G= (p.Lys103=) | |
10 | g.122508736G>T | CA5726036 | HTRA1 | c.1086G>T (p.Lys362Asn) c.768G>T (p.Lys256Asn) c.309G>T (p.Lys103Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122508737T>A | CA378586813 | HTRA1 | c.1087T>A (p.Phe363Ile) c.769T>A (p.Phe257Ile) c.310T>A (p.Phe104Ile) | |
10 | g.122508737T>C | CA378586816 | HTRA1 | c.1087T>C (p.Phe363Leu) c.769T>C (p.Phe257Leu) c.310T>C (p.Phe104Leu) | |
10 | g.122508737T>G | CA378586819 | HTRA1 | c.1087T>G (p.Phe363Val) c.769T>G (p.Phe257Val) c.310T>G (p.Phe104Val) | |
10 | g.122508738T>A | CA378586823 | HTRA1 | c.1088T>A (p.Phe363Tyr) c.770T>A (p.Phe257Tyr) c.311T>A (p.Phe104Tyr) | |
10 | g.122508738T>C | CA378586838 | HTRA1 | c.1088T>C (p.Phe363Ser) c.770T>C (p.Phe257Ser) c.311T>C (p.Phe104Ser) | dbSNP |
10 | g.122508738T>G | CA378586821 | HTRA1 | c.1088T>G (p.Phe363Cys) c.770T>G (p.Phe257Cys) c.311T>G (p.Phe104Cys) | |
10 | g.122508738T= | CA1941478114 | HTRA1 | c.1088T= (p.Phe363=) c.770T= (p.Phe257=) c.311T= (p.Phe104=) | |
10 | g.122508739C>A | CA378586841 | HTRA1 | c.1089C>A (p.Phe363Leu) c.771C>A (p.Phe257Leu) c.312C>A (p.Phe104Leu) | |
10 | g.122508739C= | CA1941478115 | HTRA1 | c.1089C= (p.Phe363=) c.771C= (p.Phe257=) c.312C= (p.Phe104=) | |
10 | g.122508739C>G | CA378586843 | HTRA1 | c.1089C>G (p.Phe363Leu) c.771C>G (p.Phe257Leu) c.312C>G (p.Phe104Leu) | |
10 | g.122508739C>T | CA471667151 | HTRA1 | c.1089C>T (p.Phe363=) c.771C>T (p.Phe257=) c.312C>T (p.Phe104=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.122508740C>A | CA378586847 | HTRA1 | c.1090C>A (p.Leu364Ile) c.772C>A (p.Leu258Ile) c.313C>A (p.Leu105Ile) | |
10 | g.122508740C>G | CA378586849 | HTRA1 | c.1090C>G (p.Leu364Val) c.772C>G (p.Leu258Val) c.313C>G (p.Leu105Val) | |
10 | g.122508740C>T | CA378586850 | HTRA1 | c.1090C>T (p.Leu364Phe) c.772C>T (p.Leu258Phe) c.313C>T (p.Leu105Phe) | gnomAD v4 |
10 | g.122508741T>A | CA378586852 | HTRA1 | c.1091T>A (p.Leu364His) c.773T>A (p.Leu258His) c.314T>A (p.Leu105His) | |
10 | g.122508741T>C | CA345927 | HTRA1 | c.1091T>C (p.Leu364Pro) c.773T>C (p.Leu258Pro) c.314T>C (p.Leu105Pro) | ClinVar dbSNP |
10 | g.122508741T>G | CA378586855 | HTRA1 | c.1091T>G (p.Leu364Arg) c.773T>G (p.Leu258Arg) c.314T>G (p.Leu105Arg) | |
10 | g.122508741T= | CA1941478116 | HTRA1 | c.1091T= (p.Leu364=) c.773T= (p.Leu258=) c.314T= (p.Leu105=) |