Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122489503T>A | CA378581081 | HTRA1 | c.654T>A (p.Asn218Lys) c.336T>A (p.Asn112Lys) | |
10 | g.122489503T>C | CA471664405 | HTRA1 | c.654T>C (p.Asn218=) c.336T>C (p.Asn112=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122489503T>G | CA378581083 | HTRA1 | c.654T>G (p.Asn218Lys) c.336T>G (p.Asn112Lys) | |
10 | g.122489503T= | CA1941464778 | HTRA1 | c.654T= (p.Asn218=) c.336T= (p.Asn112=) | |
10 | g.122489504G>A | CA378581087 | HTRA1 | c.655G>A (p.Ala219Thr) c.337G>A (p.Ala113Thr) | |
10 | g.122489504G>C | CA378581089 | HTRA1 | c.655G>C (p.Ala219Pro) c.337G>C (p.Ala113Pro) | |
10 | g.122489504G>T | CA378581085 | HTRA1 | c.655G>T (p.Ala219Ser) c.337G>T (p.Ala113Ser) | |
10 | g.122489505C>A | CA378581092 | HTRA1 | c.656C>A (p.Ala219Asp) c.338C>A (p.Ala113Asp) | |
10 | g.122489505C>G | CA378581094 | HTRA1 | c.656C>G (p.Ala219Gly) c.338C>G (p.Ala113Gly) | |
10 | g.122489505C>T | CA378581096 | HTRA1 | c.656C>T (p.Ala219Val) c.338C>T (p.Ala113Val) | COSMIC |
10 | g.122489506C>A | CA471664411 | HTRA1 | c.657C>A (p.Ala219=) c.339C>A (p.Ala113=) | |
10 | g.122489506C>G | CA471664413 | HTRA1 | c.657C>G (p.Ala219=) c.339C>G (p.Ala113=) | dbSNP |
10 | g.122489506C>T | CA471664415 | HTRA1 | c.657C>T (p.Ala219=) c.339C>T (p.Ala113=) | gnomAD v4 |
10 | g.122489507C>A | CA378581099 | HTRA1 | c.658C>A (p.His220Asn) c.340C>A (p.His114Asn) | |
10 | g.122489507C>G | CA378581101 | HTRA1 | c.658C>G (p.His220Asp) c.340C>G (p.His114Asp) | |
10 | g.122489507C>T | CA378581103 | HTRA1 | c.658C>T (p.His220Tyr) c.340C>T (p.His114Tyr) | |
10 | g.122489508A>C | CA378581110 | HTRA1 | c.659A>C (p.His220Pro) c.341A>C (p.His114Pro) | |
10 | g.122489508A>G | CA378581105 | HTRA1 | c.659A>G (p.His220Arg) c.341A>G (p.His114Arg) | |
10 | g.122489508A>T | CA378581108 | HTRA1 | c.659A>T (p.His220Leu) c.341A>T (p.His114Leu) | |
10 | g.122489509C>A | CA378581112 | HTRA1 | c.660C>A (p.His220Gln) c.342C>A (p.His114Gln) | dbSNP |
10 | g.122489509C= | CA1941464784 | HTRA1 | c.660C= (p.His220=) c.342C= (p.His114=) | |
10 | g.122489509C>G | CA378581114 | HTRA1 | c.660C>G (p.His220Gln) c.342C>G (p.His114Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.122489509C>T | CA471664422 | HTRA1 | c.660C>T (p.His220=) c.342C>T (p.His114=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.122489510G>A | CA378581116 | HTRA1 | c.661G>A (p.Val221Met) c.343G>A (p.Val115Met) | gnomAD v4 |
10 | g.122489510G>C | CA378581117 | HTRA1 | c.661G>C (p.Val221Leu) c.343G>C (p.Val115Leu) | |
10 | g.122489510G>T | CA378581119 | HTRA1 | c.661G>T (p.Val221Leu) c.343G>T (p.Val115Leu) | gnomAD v4 |
10 | g.122489511T>A | CA378581124 | HTRA1 | c.662T>A (p.Val221Glu) c.344T>A (p.Val115Glu) | |
10 | g.122489511T>C | CA378581121 | HTRA1 | c.662T>C (p.Val221Ala) c.344T>C (p.Val115Ala) | |
10 | g.122489511T>G | CA378581123 | HTRA1 | c.662T>G (p.Val221Gly) c.344T>G (p.Val115Gly) | |
10 | g.122489512G>A | CA5725890 | HTRA1 | c.663G>A (p.Val221=) c.345G>A (p.Val115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122489512G>C | CA471664428 | HTRA1 | c.663G>C (p.Val221=) c.345G>C (p.Val115=) | gnomAD v4 |
10 | g.122489512G= | CA1941464794 | HTRA1 | c.663G= (p.Val221=) c.345G= (p.Val115=) | |
10 | g.122489512G>T | CA471664430 | HTRA1 | c.663G>T (p.Val221=) c.345G>T (p.Val115=) | |
10 | g.122489513G>A | CA378581127 | HTRA1 | c.664G>A (p.Val222Met) c.346G>A (p.Val116Met) | |
10 | g.122489513G>C | CA378581128 | HTRA1 | c.664G>C (p.Val222Leu) c.346G>C (p.Val116Leu) | |
10 | g.122489513G>T | CA378581129 | HTRA1 | c.664G>T (p.Val222Leu) c.346G>T (p.Val116Leu) | |
10 | g.122489514T>A | CA378581131 | HTRA1 | c.665T>A (p.Val222Glu) c.347T>A (p.Val116Glu) | |
10 | g.122489514T>C | CA378581133 | HTRA1 | c.665T>C (p.Val222Ala) c.347T>C (p.Val116Ala) | |
10 | g.122489514T>G | CA378581135 | HTRA1 | c.665T>G (p.Val222Gly) c.347T>G (p.Val116Gly) | |
10 | g.122489515G>A | CA471664436 | HTRA1 | c.666G>A (p.Val222=) c.348G>A (p.Val116=) | dbSNP gnomAD v4 |
10 | g.122489515G>C | CA471664438 | HTRA1 | c.666G>C (p.Val222=) c.348G>C (p.Val116=) | |
10 | g.122489515G= | CA1941464797 | HTRA1 | c.666G= (p.Val222=) c.348G= (p.Val116=) | |
10 | g.122489515G>T | CA471664439 | HTRA1 | c.666G>T (p.Val222=) c.348G>T (p.Val116=) | |
10 | g.122489516A>C | CA378581137 | HTRA1 | c.667A>C (p.Thr223Pro) c.349A>C (p.Thr117Pro) | |
10 | g.122489516A>G | CA378581139 | HTRA1 | c.667A>G (p.Thr223Ala) c.349A>G (p.Thr117Ala) | gnomAD v4 |
10 | g.122489516A>T | CA378581141 | HTRA1 | c.667A>T (p.Thr223Ser) c.349A>T (p.Thr117Ser) | |
10 | g.122489517C>A | CA378581143 | HTRA1 | c.668C>A (p.Thr223Asn) c.350C>A (p.Thr117Asn) | |
10 | g.122489517C= | CA1941464800 | HTRA1 | c.668C= (p.Thr223=) c.350C= (p.Thr117=) | |
10 | g.122489517C>G | CA378581145 | HTRA1 | c.668C>G (p.Thr223Ser) c.350C>G (p.Thr117Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122489517C>T | CA378581147 | HTRA1 | c.668C>T (p.Thr223Ile) c.350C>T (p.Thr117Ile) | gnomAD v4 |