Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506785_122506786del | CA2695212892 | HTRA1 | c.872_873del (p.Thr291SerfsTer?) c.554_555del (p.Thr185SerfsTer?) c.95_96del (p.Thr32SerfsTer?) | |
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) |