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.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) |