Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |