Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
10 | g.122508742C>A | CA471667153 | HTRA1 | c.1092C>A (p.Leu364=) c.774C>A (p.Leu258=) c.315C>A (p.Leu105=) | |
10 | g.122508742C= | CA1941478117 | HTRA1 | c.1092C= (p.Leu364=) c.774C= (p.Leu258=) c.315C= (p.Leu105=) | |
10 | g.122508742C>G | CA471667152 | HTRA1 | c.1092C>G (p.Leu364=) c.774C>G (p.Leu258=) c.315C>G (p.Leu105=) | |
10 | g.122508742C>T | CA214412619 | HTRA1 | c.1092C>T (p.Leu364=) c.774C>T (p.Leu258=) c.315C>T (p.Leu105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508743A= | CA1941478118 | HTRA1 | c.1093A= (p.Thr365=) c.775A= (p.Thr259=) c.316A= (p.Thr106=) | |
10 | g.122508743A>C | CA378586856 | HTRA1 | c.1093A>C (p.Thr365Pro) c.775A>C (p.Thr259Pro) c.316A>C (p.Thr106Pro) | |
10 | g.122508743A>G | CA5726039 | HTRA1 | c.1093A>G (p.Thr365Ala) c.775A>G (p.Thr259Ala) c.316A>G (p.Thr106Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508743A>T | CA378586860 | HTRA1 | c.1093A>T (p.Thr365Ser) c.775A>T (p.Thr259Ser) c.316A>T (p.Thr106Ser) | |
10 | g.122508744C>A | CA378586862 | HTRA1 | c.1094C>A (p.Thr365Lys) c.776C>A (p.Thr259Lys) c.317C>A (p.Thr106Lys) | gnomAD v4 |
10 | g.122508744C= | CA1941478119 | HTRA1 | c.1094C= (p.Thr365=) c.776C= (p.Thr259=) c.317C= (p.Thr106=) | |
10 | g.122508744C>G | CA378586865 | HTRA1 | c.1094C>G (p.Thr365Arg) c.776C>G (p.Thr259Arg) c.317C>G (p.Thr106Arg) | |
10 | g.122508744C>T | CA5726040 | HTRA1 | c.1094C>T (p.Thr365Met) c.776C>T (p.Thr259Met) c.317C>T (p.Thr106Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508745G>A | CA5726041 | HTRA1 | c.1095G>A (p.Thr365=) c.777G>A (p.Thr259=) c.318G>A (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.122508745G>C | CA471667154 | HTRA1 | c.1095G>C (p.Thr365=) c.777G>C (p.Thr259=) c.318G>C (p.Thr106=) | ClinVar dbSNP |
10 | g.122508745G= | CA1941478120 | HTRA1 | c.1095G= (p.Thr365=) c.777G= (p.Thr259=) c.318G= (p.Thr106=) | |
10 | g.122508745G>T | CA471667155 | HTRA1 | c.1095G>T (p.Thr365=) c.777G>T (p.Thr259=) c.318G>T (p.Thr106=) | gnomAD v4 |
10 | g.122508746G>A | CA378586872 | HTRA1 | c.1096G>A (p.Glu366Lys) c.778G>A (p.Glu260Lys) c.319G>A (p.Glu107Lys) | |
10 | g.122508746G>C | CA378586873 | HTRA1 | c.1096G>C (p.Glu366Gln) c.778G>C (p.Glu260Gln) c.319G>C (p.Glu107Gln) | dbSNP |
10 | g.122508746G= | CA1941478121 | HTRA1 | c.1096G= (p.Glu366=) c.778G= (p.Glu260=) c.319G= (p.Glu107=) | |
10 | g.122508746G>T | CA378586874 | HTRA1 | c.1096G>T (p.Glu366Ter) c.778G>T (p.Glu260Ter) c.319G>T (p.Glu107Ter) | |
10 | g.122508747A>C | CA378586875 | HTRA1 | c.1097A>C (p.Glu366Ala) c.779A>C (p.Glu260Ala) c.320A>C (p.Glu107Ala) | |
10 | g.122508747A>G | CA378586876 | HTRA1 | c.1097A>G (p.Glu366Gly) c.779A>G (p.Glu260Gly) c.320A>G (p.Glu107Gly) | gnomAD v4 |
10 | g.122508747A>T | CA378586877 | HTRA1 | c.1097A>T (p.Glu366Val) c.779A>T (p.Glu260Val) c.320A>T (p.Glu107Val) | |
10 | g.122508748G>A | CA471667156 | HTRA1 | c.1098G>A (p.Glu366=) c.780G>A (p.Glu260=) c.321G>A (p.Glu107=) | |
10 | g.122508748G>C | CA378586879 | HTRA1 | c.1098G>C (p.Glu366Asp) c.780G>C (p.Glu260Asp) c.321G>C (p.Glu107Asp) | |
10 | g.122508748G>T | CA378586881 | HTRA1 | c.1098G>T (p.Glu366Asp) c.780G>T (p.Glu260Asp) c.321G>T (p.Glu107Asp) | |
10 | g.122508749T>A | CA378586882 | HTRA1 | c.1099T>A (p.Ser367Thr) c.781T>A (p.Ser261Thr) c.322T>A (p.Ser108Thr) | |
10 | g.122508749T>C | CA5726042 | HTRA1 | c.1099T>C (p.Ser367Pro) c.781T>C (p.Ser261Pro) c.322T>C (p.Ser108Pro) | dbSNP ExAC gnomAD v2 |
10 | g.122508749T>G | CA378586886 | HTRA1 | c.1099T>G (p.Ser367Ala) c.781T>G (p.Ser261Ala) c.322T>G (p.Ser108Ala) | |
10 | g.122508749T= | CA1941478122 | HTRA1 | c.1099T= (p.Ser367=) c.781T= (p.Ser261=) c.322T= (p.Ser108=) | |
10 | g.122508750C>A | CA378586887 | HTRA1 | c.1100C>A (p.Ser367Tyr) c.782C>A (p.Ser261Tyr) c.323C>A (p.Ser108Tyr) | |
10 | g.122508750C>G | CA378586888 | HTRA1 | c.1100C>G (p.Ser367Cys) c.782C>G (p.Ser261Cys) c.323C>G (p.Ser108Cys) | |
10 | g.122508750C>T | CA378586889 | HTRA1 | c.1100C>T (p.Ser367Phe) c.782C>T (p.Ser261Phe) c.323C>T (p.Ser108Phe) | |
10 | g.122508752del | CA2574697867 | HTRA1 | c.1102del (p.His368MetfsTer20) c.784del (p.His262MetfsTer20) c.325del (p.His109MetfsTer20) | |
10 | g.122508751C>A | CA471667157 | HTRA1 | c.1101C>A (p.Ser367=) c.783C>A (p.Ser261=) c.324C>A (p.Ser108=) | |
10 | g.122508751C>G | CA471667158 | HTRA1 | c.1101C>G (p.Ser367=) c.783C>G (p.Ser261=) c.324C>G (p.Ser108=) | gnomAD v4 |
10 | g.122508751C>T | CA471667159 | HTRA1 | c.1101C>T (p.Ser367=) c.783C>T (p.Ser261=) c.324C>T (p.Ser108=) | |
10 | g.122508752C>A | CA378586890 | HTRA1 | c.1102C>A (p.His368Asn) c.784C>A (p.His262Asn) c.325C>A (p.His109Asn) | |
10 | g.122508752C>G | CA378586892 | HTRA1 | c.1102C>G (p.His368Asp) c.784C>G (p.His262Asp) c.325C>G (p.His109Asp) | gnomAD v4 |
10 | g.122508752C>T | CA378586891 | HTRA1 | c.1102C>T (p.His368Tyr) c.784C>T (p.His262Tyr) c.325C>T (p.His109Tyr) | |
10 | g.122508753A= | CA1941478123 | HTRA1 | c.1103A= (p.His368=) c.785A= (p.His262=) c.326A= (p.His109=) | |
10 | g.122508753A>C | CA378586893 | HTRA1 | c.1103A>C (p.His368Pro) c.785A>C (p.His262Pro) c.326A>C (p.His109Pro) | |
10 | g.122508753A>G | CA378586896 | HTRA1 | c.1103A>G (p.His368Arg) c.785A>G (p.His262Arg) c.326A>G (p.His109Arg) | dbSNP gnomAD v4 |
10 | g.122508753A>T | CA378586895 | HTRA1 | c.1103A>T (p.His368Leu) c.785A>T (p.His262Leu) c.326A>T (p.His109Leu) | |
10 | g.122508754T>A | CA378586898 | HTRA1 | c.1104T>A (p.His368Gln) c.786T>A (p.His262Gln) c.327T>A (p.His109Gln) | |
10 | g.122508754T>C | CA214412641 | HTRA1 | c.1104T>C (p.His368=) c.786T>C (p.His262=) c.327T>C (p.His109=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122508754T>G | CA378586900 | HTRA1 | c.1104T>G (p.His368Gln) c.786T>G (p.His262Gln) c.327T>G (p.His109Gln) | |
10 | g.122508754T= | CA1941478124 | HTRA1 | c.1104T= (p.His368=) c.786T= (p.His262=) c.327T= (p.His109=) | |
10 | g.122508755G>A | CA378586903 | HTRA1 | c.1105G>A (p.Asp369Asn) c.787G>A (p.Asp263Asn) c.328G>A (p.Asp110Asn) | gnomAD v4 |
10 | g.122508755G>C | CA378586906 | HTRA1 | c.1105G>C (p.Asp369His) c.787G>C (p.Asp263His) c.328G>C (p.Asp110His) | |
10 | g.122508755G>T | CA378586905 | HTRA1 | c.1105G>T (p.Asp369Tyr) c.787G>T (p.Asp263Tyr) c.328G>T (p.Asp110Tyr) | gnomAD v4 |
10 | g.122508756A>C | CA378586908 | HTRA1 | c.1106A>C (p.Asp369Ala) c.788A>C (p.Asp263Ala) c.329A>C (p.Asp110Ala) | |
10 | g.122508756A>G | CA378586911 | HTRA1 | c.1106A>G (p.Asp369Gly) c.788A>G (p.Asp263Gly) c.329A>G (p.Asp110Gly) | |
10 | g.122508756A>T | CA378586910 | HTRA1 | c.1106A>T (p.Asp369Val) c.788A>T (p.Asp263Val) c.329A>T (p.Asp110Val) | |
10 | g.122508757C>A | CA378586912 | HTRA1 | c.1107C>A (p.Asp369Glu) c.789C>A (p.Asp263Glu) c.330C>A (p.Asp110Glu) | gnomAD v4 |
10 | g.122508757C>G | CA378586913 | HTRA1 | c.1107C>G (p.Asp369Glu) c.789C>G (p.Asp263Glu) c.330C>G (p.Asp110Glu) | |
10 | g.122508757C>T | CA471667160 | HTRA1 | c.1107C>T (p.Asp369=) c.789C>T (p.Asp263=) c.330C>T (p.Asp110=) | |
10 | g.122508758C>A | CA471667161 | HTRA1 | c.1108C>A (p.Arg370=) c.790C>A (p.Arg264=) c.331C>A (p.Arg111=) | gnomAD v4 |
10 | g.122508758C= | CA1941478125 | HTRA1 | c.1108C= (p.Arg370=) c.790C= (p.Arg264=) c.331C= (p.Arg111=) | |
10 | g.122508758C>G | CA378586915 | HTRA1 | c.1108C>G (p.Arg370Gly) c.790C>G (p.Arg264Gly) c.331C>G (p.Arg111Gly) | |
10 | g.122508758C>T | CA340681 | HTRA1 | c.1108C>T (p.Arg370Ter) c.790C>T (p.Arg264Ter) c.331C>T (p.Arg111Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508759G>A | CA5726043 | HTRA1 | c.1109G>A (p.Arg370Gln) c.791G>A (p.Arg264Gln) c.332G>A (p.Arg111Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508759G>C | CA5726044 | HTRA1 | c.1109G>C (p.Arg370Pro) c.791G>C (p.Arg264Pro) c.332G>C (p.Arg111Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508759G= | CA1941478126 | HTRA1 | c.1109G= (p.Arg370=) c.791G= (p.Arg264=) c.332G= (p.Arg111=) | |
10 | g.122508759G>T | CA378586919 | HTRA1 | c.1109G>T (p.Arg370Leu) c.791G>T (p.Arg264Leu) c.332G>T (p.Arg111Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508760A>C | CA471667162 | HTRA1 | c.1110A>C (p.Arg370=) c.792A>C (p.Arg264=) c.333A>C (p.Arg111=) | |
10 | g.122508760A>G | CA471667163 | HTRA1 | c.1110A>G (p.Arg370=) c.792A>G (p.Arg264=) c.333A>G (p.Arg111=) | |
10 | g.122508760A>T | CA471667164 | HTRA1 | c.1110A>T (p.Arg370=) c.792A>T (p.Arg264=) c.333A>T (p.Arg111=) | |
10 | g.122508761C>A | CA378586920 | HTRA1 | c.1111C>A (p.Gln371Lys) c.793C>A (p.Gln265Lys) c.334C>A (p.Gln112Lys) | |
10 | g.122508761C>G | CA378586923 | HTRA1 | c.1111C>G (p.Gln371Glu) c.793C>G (p.Gln265Glu) c.334C>G (p.Gln112Glu) | |
10 | g.122508761C>T | CA378586925 | HTRA1 | c.1111C>T (p.Gln371Ter) c.793C>T (p.Gln265Ter) c.334C>T (p.Gln112Ter) | |
10 | g.122508762A>C | CA378586928 | HTRA1 | c.1112A>C (p.Gln371Pro) c.794A>C (p.Gln265Pro) c.335A>C (p.Gln112Pro) | |
10 | g.122508762A>G | CA378586929 | HTRA1 | c.1112A>G (p.Gln371Arg) c.794A>G (p.Gln265Arg) c.335A>G (p.Gln112Arg) | |
10 | g.122508762A>T | CA378586932 | HTRA1 | c.1112A>T (p.Gln371Leu) c.794A>T (p.Gln265Leu) c.335A>T (p.Gln112Leu) | |
10 | g.122508763G>A | CA5726045 | HTRA1 | c.1113G>A (p.Gln371=) c.795G>A (p.Gln265=) c.336G>A (p.Gln112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508763G>C | CA378586943 | HTRA1 | c.1113G>C (p.Gln371His) c.795G>C (p.Gln265His) c.336G>C (p.Gln112His) | |
10 | g.122508763G= | CA1941478127 | HTRA1 | c.1113G= (p.Gln371=) c.795G= (p.Gln265=) c.336G= (p.Gln112=) | |
10 | g.122508763G>T | CA378586939 | HTRA1 | c.1113G>T (p.Gln371His) c.795G>T (p.Gln265His) c.336G>T (p.Gln112His) | |
10 | g.122508764G>A | CA378586945 | HTRA1 | c.1114G>A (p.Ala372Thr) c.796G>A (p.Ala266Thr) c.337G>A (p.Ala113Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.122508764G>C | CA378586947 | HTRA1 | c.1114G>C (p.Ala372Pro) c.796G>C (p.Ala266Pro) c.337G>C (p.Ala113Pro) | |
10 | g.122508764G= | CA1941478128 | HTRA1 | c.1114G= (p.Ala372=) c.796G= (p.Ala266=) c.337G= (p.Ala113=) | |
10 | g.122508764G>T | CA378586949 | HTRA1 | c.1114G>T (p.Ala372Ser) c.796G>T (p.Ala266Ser) c.337G>T (p.Ala113Ser) | dbSNP |
10 | g.122508765C>A | CA378586951 | HTRA1 | c.1115C>A (p.Ala372Asp) c.797C>A (p.Ala266Asp) c.338C>A (p.Ala113Asp) | gnomAD v4 |
10 | g.122508765C= | CA1941478129 | HTRA1 | c.1115C= (p.Ala372=) c.797C= (p.Ala266=) c.338C= (p.Ala113=) | |
10 | g.122508765C>G | CA378586953 | HTRA1 | c.1115C>G (p.Ala372Gly) c.797C>G (p.Ala266Gly) c.338C>G (p.Ala113Gly) | |
10 | g.122508765C>T | CA378586954 | HTRA1 | c.1115C>T (p.Ala372Val) c.797C>T (p.Ala266Val) c.338C>T (p.Ala113Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508766C>A | CA471667165 | HTRA1 | c.1116C>A (p.Ala372=) c.798C>A (p.Ala266=) c.339C>A (p.Ala113=) | gnomAD v4 |
10 | g.122508766C>G | CA471667166 | HTRA1 | c.1116C>G (p.Ala372=) c.798C>G (p.Ala266=) c.339C>G (p.Ala113=) | |
10 | g.122508766C>T | CA471667167 | HTRA1 | c.1116C>T (p.Ala372=) c.798C>T (p.Ala266=) c.339C>T (p.Ala113=) | gnomAD v4 |
10 | g.122508767A>C | CA378586956 | HTRA1 | c.1117A>C (p.Lys373Gln) c.799A>C (p.Lys267Gln) c.340A>C (p.Lys114Gln) | gnomAD v4 |
10 | g.122508767A>G | CA378586963 | HTRA1 | c.1117A>G (p.Lys373Glu) c.799A>G (p.Lys267Glu) c.340A>G (p.Lys114Glu) | |
10 | g.122508767A>T | CA378586965 | HTRA1 | c.1117A>T (p.Lys373Ter) c.799A>T (p.Lys267Ter) c.340A>T (p.Lys114Ter) | |
10 | g.122508768_122508769dup | CA2574697869 | HTRA1 | c.1118_1119dup (p.Gly374LysfsTer15) c.800_801dup (p.Gly268LysfsTer15) c.341_342dup (p.Gly115LysfsTer15) | |
10 | g.122508769del | CA2574697868 | HTRA1 | c.1119del (p.Gly374GlufsTer14) c.801del (p.Gly268GlufsTer14) c.342del (p.Gly115GlufsTer14) | |
10 | g.122508768A>C | CA378586971 | HTRA1 | c.1118A>C (p.Lys373Thr) c.800A>C (p.Lys267Thr) c.341A>C (p.Lys114Thr) | |
10 | g.122508768A>G | CA378586970 | HTRA1 | c.1118A>G (p.Lys373Arg) c.800A>G (p.Lys267Arg) c.341A>G (p.Lys114Arg) | |
10 | g.122508768A>T | CA378586967 | HTRA1 | c.1118A>T (p.Lys373Ile) c.800A>T (p.Lys267Ile) c.341A>T (p.Lys114Ile) | |
10 | g.122508769A>C | CA378586972 | HTRA1 | c.1119A>C (p.Lys373Asn) c.801A>C (p.Lys267Asn) c.342A>C (p.Lys114Asn) | |
10 | g.122508769A>G | CA471667168 | HTRA1 | c.1119A>G (p.Lys373=) c.801A>G (p.Lys267=) c.342A>G (p.Lys114=) | |
10 | g.122508769A>T | CA378586973 | HTRA1 | c.1119A>T (p.Lys373Asn) c.801A>T (p.Lys267Asn) c.342A>T (p.Lys114Asn) | COSMIC |
10 | g.122508770G>A | CA378586976 | HTRA1 | c.1120G>A (p.Gly374Arg) c.802G>A (p.Gly268Arg) c.343G>A (p.Gly115Arg) | dbSNP |
10 | g.122508770G>C | CA378586977 | HTRA1 | c.1120G>C (p.Gly374Arg) c.802G>C (p.Gly268Arg) c.343G>C (p.Gly115Arg) | gnomAD v4 |
10 | g.122508770G= | CA1941478130 | HTRA1 | c.1120G= (p.Gly374=) c.802G= (p.Gly268=) c.343G= (p.Gly115=) | |
10 | g.122508770G>T | CA378586979 | HTRA1 | c.1120G>T (p.Gly374Ter) c.802G>T (p.Gly268Ter) c.343G>T (p.Gly115Ter) | |
10 | g.122508771G>A | CA378586981 | HTRA1 | c.1120+1G>A (n.1120+1G>A) c.802+1G>A (n.802+1G>A) c.343+1G>A (n.343+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122508771G>C | CA378586983 | HTRA1 | c.1120+1G>C (n.1120+1G>C) c.802+1G>C (n.802+1G>C) c.343+1G>C (n.343+1G>C) | |
10 | g.122508771G= | CA1941478132 | HTRA1 | c.1120+1G= (n.1120+1G=) c.802+1G= (n.802+1G=) c.343+1G= (n.343+1G=) | |
10 | g.122508771G>T | CA378586985 | HTRA1 | c.1120+1G>T (n.1120+1G>T) c.802+1G>T (n.802+1G>T) c.343+1G>T (n.343+1G>T) | |
10 | g.122508771_122508772insAAAAGCCATCACCAAGAAGAAG | CA1941478131 | HTRA1 | c.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG (n.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG) c.802+1_802+2insAAAAGCCATCACCAAGAAGAAG (n.802+1_802+2insAAAAGCCATCACCAAGAAGAAG) c.343+1_343+2insAAAAGCCATCACCAAGAAGAAG (n.343+1_343+2insAAAAGCCATCACCAAGAAGAAG) | dbSNP |
10 | g.122508772T>A | CA378586986 | HTRA1 | c.1120+2T>A (n.1120+2T>A) c.802+2T>A (n.802+2T>A) c.343+2T>A (n.343+2T>A) | |
10 | g.122508772T>C | CA378586987 | HTRA1 | c.1120+2T>C (n.1120+2T>C) c.802+2T>C (n.802+2T>C) c.343+2T>C (n.343+2T>C) | |
10 | g.122508772T>G | CA378586989 | HTRA1 | c.1120+2T>G (n.1120+2T>G) c.802+2T>G (n.802+2T>G) c.343+2T>G (n.343+2T>G) | |
10 | g.122508774G>A | CA2611247025 | HTRA1 | c.1120+4G>A (n.1120+4G>A) c.802+4G>A (n.802+4G>A) c.343+4G>A (n.343+4G>A) | gnomAD v4 |
10 | g.122508775G>A | CA214412668 | HTRA1 | c.1120+5G>A (n.1120+5G>A) c.802+5G>A (n.802+5G>A) c.343+5G>A (n.343+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508775G= | CA1941478133 | HTRA1 | c.1120+5G= (n.1120+5G=) c.802+5G= (n.802+5G=) c.343+5G= (n.343+5G=) | |
10 | g.122508775G>T | CA2842616636 | HTRA1 | c.1120+5G>T (n.1120+5G>T) c.802+5G>T (n.802+5G>T) c.343+5G>T (n.343+5G>T) | |
10 | g.122508776C>A | CA2611247026 | HTRA1 | c.1120+6C>A (n.1120+6C>A) c.802+6C>A (n.802+6C>A) c.343+6C>A (n.343+6C>A) | gnomAD v4 |
10 | g.122508776C= | CA1941478134 | HTRA1 | c.1120+6C= (n.1120+6C=) c.802+6C= (n.802+6C=) c.343+6C= (n.343+6C=) | |
10 | g.122508776C>T | CA596380679 | HTRA1 | c.1120+6C>T (n.1120+6C>T) c.802+6C>T (n.802+6C>T) c.343+6C>T (n.343+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508777A= | CA1941478135 | HTRA1 | c.1120+7A= (n.1120+7A=) c.802+7A= (n.802+7A=) c.343+7A= (n.343+7A=) | |
10 | g.122508777A>C | CA5726046 | HTRA1 | c.1120+7A>C (n.1120+7A>C) c.802+7A>C (n.802+7A>C) c.343+7A>C (n.343+7A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122508777A>G | CA596380680 | HTRA1 | c.1120+7A>G (n.1120+7A>G) c.802+7A>G (n.802+7A>G) c.343+7A>G (n.343+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508778A>G | CA2611247027 | HTRA1 | c.1120+8A>G (n.1120+8A>G) c.802+8A>G (n.802+8A>G) c.343+8A>G (n.343+8A>G) | gnomAD v4 |
10 | g.122508780G>A | CA2611247029 | HTRA1 | c.1120+10G>A (n.1120+10G>A) c.802+10G>A (n.802+10G>A) c.343+10G>A (n.343+10G>A) | gnomAD v4 |
10 | g.122508780G>T | CA2611247028 | HTRA1 | c.1120+10G>T (n.1120+10G>T) c.802+10G>T (n.802+10G>T) c.343+10G>T (n.343+10G>T) | gnomAD v4 |
10 | g.122508781C>A | CA933345380 | HTRA1 | c.1120+11C>A (n.1120+11C>A) c.802+11C>A (n.802+11C>A) c.343+11C>A (n.343+11C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122508781C= | CA1941478136 | HTRA1 | c.1120+11C= (n.1120+11C=) c.802+11C= (n.802+11C=) c.343+11C= (n.343+11C=) | |
10 | g.122508781C>T | CA2611247031 | HTRA1 | c.1120+11C>T (n.1120+11C>T) c.802+11C>T (n.802+11C>T) c.343+11C>T (n.343+11C>T) | gnomAD v4 |
10 | g.122508783del | CA2611247030 | HTRA1 | c.1120+13del (n.1120+13del) c.802+13del (n.802+13del) c.343+13del (n.343+13del) | gnomAD v4 |
10 | g.122508782C>A | CA2611247032 | HTRA1 | c.1120+12C>A (n.1120+12C>A) c.802+12C>A (n.802+12C>A) c.343+12C>A (n.343+12C>A) | gnomAD v4 |
10 | g.122508783C>A | CA596380681 | HTRA1 | c.1120+13C>A (n.1120+13C>A) c.802+13C>A (n.802+13C>A) c.343+13C>A (n.343+13C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122508783C= | CA1941478137 | HTRA1 | c.1120+13C= (n.1120+13C=) c.802+13C= (n.802+13C=) c.343+13C= (n.343+13C=) | |
10 | g.122508783C>T | CA5726047 | HTRA1 | c.1120+13C>T (n.1120+13C>T) c.802+13C>T (n.802+13C>T) c.343+13C>T (n.343+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122508784A= | CA1941478138 | HTRA1 | c.1120+14A= (n.1120+14A=) c.802+14A= (n.802+14A=) c.343+14A= (n.343+14A=) | |
10 | g.122508784A>G | CA660912047 | HTRA1 | c.1120+14A>G (n.1120+14A>G) c.802+14A>G (n.802+14A>G) c.343+14A>G (n.343+14A>G) | dbSNP |
10 | g.122508784dup | CA2789779952 | HTRA1 | c.1120+14dup (n.1120+14dup) c.802+14dup (n.802+14dup) c.343+14dup (n.343+14dup) |