Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506630G>A | CA2611246611 | HTRA1 | c.778-61G>A (n.778-61G>A) c.460-61G>A (n.460-61G>A) | gnomAD v4 |
10 | g.122506630G>T | CA2611246612 | HTRA1 | c.778-61G>T (n.778-61G>T) c.460-61G>T (n.460-61G>T) | gnomAD v4 |
10 | g.122506632G>A | CA214411174 | HTRA1 | c.778-59G>A (n.778-59G>A) c.460-59G>A (n.460-59G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506632G= | CA1941477156 | HTRA1 | c.778-59G= (n.778-59G=) c.460-59G= (n.460-59G=) | |
10 | g.122506632G>T | CA2574697787 | HTRA1 | c.778-59G>T (n.778-59G>T) c.460-59G>T (n.460-59G>T) | gnomAD v4 |
10 | g.122506633C>A | CA2574697788 | HTRA1 | c.778-58C>A (n.778-58C>A) c.460-58C>A (n.460-58C>A) | gnomAD v4 |
10 | g.122506633C= | CA1941477157 | HTRA1 | c.778-58C= (n.778-58C=) c.460-58C= (n.460-58C=) | |
10 | g.122506633C>T | CA1941477158 | HTRA1 | c.778-58C>T (n.778-58C>T) c.460-58C>T (n.460-58C>T) | dbSNP gnomAD v4 |
10 | g.122506634C>A | CA2574697789 | HTRA1 | c.778-57C>A (n.778-57C>A) c.460-57C>A (n.460-57C>A) | gnomAD v4 |
10 | g.122506635T>A | CA2574697790 | HTRA1 | c.778-56T>A (n.778-56T>A) c.460-56T>A (n.460-56T>A) | |
10 | g.122506636T>C | CA2611246613 | HTRA1 | c.778-55T>C (n.778-55T>C) c.460-55T>C (n.460-55T>C) | gnomAD v4 |
10 | g.122506638A>T | CA2611246614 | HTRA1 | c.778-53A>T (n.778-53A>T) c.460-53A>T (n.460-53A>T) | gnomAD v4 |
10 | g.122506639C= | CA1941477159 | HTRA1 | c.778-52C= (n.778-52C=) c.460-52C= (n.460-52C=) | |
10 | g.122506639C>T | CA214411175 | HTRA1 | c.778-52C>T (n.778-52C>T) c.460-52C>T (n.460-52C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506640C>A | CA2611246615 | HTRA1 | c.778-51C>A (n.778-51C>A) c.460-51C>A (n.460-51C>A) | gnomAD v4 |
10 | g.122506642A= | CA1941477160 | HTRA1 | c.778-49A= (n.778-49A=) c.460-49A= (n.460-49A=) | |
10 | g.122506642A>G | CA5725922 | HTRA1 | c.778-49A>G (n.778-49A>G) c.460-49A>G (n.460-49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506642A>T | CA2574697791 | HTRA1 | c.778-49A>T (n.778-49A>T) c.460-49A>T (n.460-49A>T) | |
10 | g.122506643T>G | CA2574697792 | HTRA1 | c.778-48T>G (n.778-48T>G) c.460-48T>G (n.460-48T>G) | |
10 | g.122506645T>C | CA1941477162 | HTRA1 | c.778-46T>C (n.778-46T>C) c.460-46T>C (n.460-46T>C) | dbSNP |
10 | g.122506645T= | CA1941477161 | HTRA1 | c.778-46T= (n.778-46T=) c.460-46T= (n.460-46T=) | |
10 | g.122506646G>A | CA5725923 | HTRA1 | c.778-45G>A (n.778-45G>A) c.460-45G>A (n.460-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506646G= | CA1941477163 | HTRA1 | c.778-45G= (n.778-45G=) c.460-45G= (n.460-45G=) | |
10 | g.122506646G>T | CA2574697794 | HTRA1 | c.778-45G>T (n.778-45G>T) c.460-45G>T (n.460-45G>T) | gnomAD v4 |
10 | g.122506647del | CA2574697793 | HTRA1 | c.778-44del (n.778-44del) c.460-44del (n.460-44del) | |
10 | g.122506647G>A | CA2611246616 | HTRA1 | c.778-44G>A (n.778-44G>A) c.460-44G>A (n.460-44G>A) | gnomAD v4 |
10 | g.122506647G>T | CA2611246617 | HTRA1 | c.778-44G>T (n.778-44G>T) c.460-44G>T (n.460-44G>T) | gnomAD v4 |
10 | g.122506650A>T | CA2574697795 | HTRA1 | c.778-41A>T (n.778-41A>T) c.460-41A>T (n.460-41A>T) | gnomAD v4 |
10 | g.122506654T>C | CA1941477165 | HTRA1 | c.778-37T>C (n.778-37T>C) c.460-37T>C (n.460-37T>C) | dbSNP gnomAD v4 |
10 | g.122506654T= | CA1941477164 | HTRA1 | c.778-37T= (n.778-37T=) c.460-37T= (n.460-37T=) | |
10 | g.122506655A>T | CA2574697796 | HTRA1 | c.778-36A>T (n.778-36A>T) c.460-36A>T (n.460-36A>T) | gnomAD v4 |
10 | g.122506657A>G | CA2611246618 | HTRA1 | c.778-34A>G (n.778-34A>G) c.460-34A>G (n.460-34A>G) | gnomAD v4 |
10 | g.122506657A>T | CA2611246619 | HTRA1 | c.778-34A>T (n.778-34A>T) c.460-34A>T (n.460-34A>T) | gnomAD v4 |
10 | g.122506658C>A | CA2611246620 | HTRA1 | c.778-33C>A (n.778-33C>A) c.460-33C>A (n.460-33C>A) | gnomAD v4 |
10 | g.122506658C>T | CA2611246621 | HTRA1 | c.778-33C>T (n.778-33C>T) c.460-33C>T (n.460-33C>T) | gnomAD v4 |
10 | g.122506659C>A | CA1941477167 | HTRA1 | c.778-32C>A (n.778-32C>A) c.460-32C>A (n.460-32C>A) | dbSNP gnomAD v4 |
10 | g.122506659C= | CA1941477166 | HTRA1 | c.778-32C= (n.778-32C=) c.460-32C= (n.460-32C=) | |
10 | g.122506659C>T | CA2611246622 | HTRA1 | c.778-32C>T (n.778-32C>T) c.460-32C>T (n.460-32C>T) | gnomAD v4 |
10 | g.122506661del | CA2611246623 | HTRA1 | c.778-30del (n.778-30del) c.460-30del (n.460-30del) | gnomAD v4 |
10 | g.122506661A= | CA1941477168 | HTRA1 | c.778-30A= (n.778-30A=) c.460-30A= (n.460-30A=) | |
10 | g.122506661A>G | CA1941477169 | HTRA1 | c.778-30A>G (n.778-30A>G) c.460-30A>G (n.460-30A>G) | dbSNP |
10 | g.122506661A>T | CA2611246624 | HTRA1 | c.778-30A>T (n.778-30A>T) c.460-30A>T (n.460-30A>T) | gnomAD v4 |
10 | g.122506662C>A | CA2611246625 | HTRA1 | c.778-29C>A (n.778-29C>A) c.460-29C>A (n.460-29C>A) | gnomAD v4 |
10 | g.122506664C>A | CA2611246626 | HTRA1 | c.778-27C>A (n.778-27C>A) c.460-27C>A (n.460-27C>A) | gnomAD v4 |
10 | g.122506664C= | CA1941477170 | HTRA1 | c.778-27C= (n.778-27C=) c.460-27C= (n.460-27C=) | |
10 | g.122506664C>T | CA660910292 | HTRA1 | c.778-27C>T (n.778-27C>T) c.460-27C>T (n.460-27C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506666G>A | CA2611246627 | HTRA1 | c.778-25G>A (n.778-25G>A) c.460-25G>A (n.460-25G>A) | gnomAD v4 |
10 | g.122506667C>A | CA2611246628 | HTRA1 | c.778-24C>A (n.778-24C>A) c.460-24C>A (n.460-24C>A) | gnomAD v4 |
10 | g.122506667C= | CA1941477171 | HTRA1 | c.778-24C= (n.778-24C=) c.460-24C= (n.460-24C=) | |
10 | g.122506667C>G | CA5725924 | HTRA1 | c.778-24C>G (n.778-24C>G) c.460-24C>G (n.460-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506669A= | CA1941477172 | HTRA1 | c.778-22A= (n.778-22A=) c.460-22A= (n.460-22A=) | |
10 | g.122506669A>G | CA660910293 | HTRA1 | c.778-22A>G (n.778-22A>G) c.460-22A>G (n.460-22A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506670C>A | CA2611246629 | HTRA1 | c.778-21C>A (n.778-21C>A) c.460-21C>A (n.460-21C>A) | gnomAD v4 |
10 | g.122506670C= | CA1941477173 | HTRA1 | c.778-21C= (n.778-21C=) c.460-21C= (n.460-21C=) | |
10 | g.122506670C>G | CA596579029 | HTRA1 | c.778-21C>G (n.778-21C>G) c.460-21C>G (n.460-21C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506670C>T | CA5725925 | HTRA1 | c.778-21C>T (n.778-21C>T) c.460-21C>T (n.460-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506671G>A | CA5725926 | HTRA1 | c.778-20G>A (n.778-20G>A) c.460-20G>A (n.460-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506671G>C | CA2580908916 | HTRA1 | c.778-20G>C (n.778-20G>C) c.460-20G>C (n.460-20G>C) | gnomAD v4 |
10 | g.122506671G= | CA1941477174 | HTRA1 | c.778-20G= (n.778-20G=) c.460-20G= (n.460-20G=) | |
10 | g.122506671G>T | CA2580908917 | HTRA1 | c.778-20G>T (n.778-20G>T) c.460-20G>T (n.460-20G>T) | gnomAD v4 |
10 | g.122506672C>A | CA2574697797 | HTRA1 | c.778-19C>A (n.778-19C>A) c.460-19C>A (n.460-19C>A) | gnomAD v4 |
10 | g.122506673C>A | CA2611246630 | HTRA1 | c.778-18C>A (n.778-18C>A) c.460-18C>A (n.460-18C>A) | gnomAD v4 |
10 | g.122506675G>A | CA5725927 | HTRA1 | c.778-16G>A (n.778-16G>A) c.460-16G>A (n.460-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506675G>C | CA214411188 | HTRA1 | c.778-16G>C (n.778-16G>C) c.460-16G>C (n.460-16G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506675G= | CA1941477175 | HTRA1 | c.778-16G= (n.778-16G=) c.460-16G= (n.460-16G=) | |
10 | g.122506676C>A | CA1941477177 | HTRA1 | c.778-15C>A (n.778-15C>A) c.460-15C>A (n.460-15C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506676C= | CA1941477176 | HTRA1 | c.778-15C= (n.778-15C=) c.460-15C= (n.460-15C=) | |
10 | g.122506676C>T | CA2574697798 | HTRA1 | c.778-15C>T (n.778-15C>T) c.460-15C>T (n.460-15C>T) | ClinVar |
10 | g.122506677C>A | CA2574697799 | HTRA1 | c.778-14C>A (n.778-14C>A) c.460-14C>A (n.460-14C>A) | |
10 | g.122506678A>G | CA2611246631 | HTRA1 | c.778-13A>G (n.778-13A>G) c.460-13A>G (n.460-13A>G) | gnomAD v4 |
10 | g.122506679T>C | CA596579030 | HTRA1 | c.778-12T>C (n.778-12T>C) c.460-12T>C (n.460-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506679T= | CA1941477178 | HTRA1 | c.778-12T= (n.778-12T=) c.460-12T= (n.460-12T=) | |
10 | g.122506681G>A | CA596579031 | HTRA1 | c.778-10G>A (n.778-10G>A) c.460-10G>A (n.460-10G>A) | dbSNP gnomAD v2 |
10 | g.122506681G>C | CA2789768154 | HTRA1 | c.778-10G>C (n.778-10G>C) c.460-10G>C (n.460-10G>C) | |
10 | g.122506681G= | CA1941477179 | HTRA1 | c.778-10G= (n.778-10G=) c.460-10G= (n.460-10G=) | |
10 | g.122506682T>C | CA5725928 | HTRA1 | c.778-9T>C (n.778-9T>C) c.460-9T>C (n.460-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506682T= | CA1941477180 | HTRA1 | c.778-9T= (n.778-9T=) c.460-9T= (n.460-9T=) | |
10 | g.122506683G>A | CA1941477182 | HTRA1 | c.778-8G>A (n.778-8G>A) c.460-8G>A (n.460-8G>A) | dbSNP gnomAD v4 |
10 | g.122506683G= | CA1941477181 | HTRA1 | c.778-8G= (n.778-8G=) c.460-8G= (n.460-8G=) | |
10 | g.122506683G>T | CA5725929 | HTRA1 | c.778-8G>T (n.778-8G>T) c.460-8G>T (n.460-8G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506684G>A | CA2580082432 | HTRA1 | c.778-7G>A (n.778-7G>A) c.460-7G>A (n.460-7G>A) | ClinVar |
10 | g.122506688C= | CA1941477183 | HTRA1 | c.778-3C= (n.778-3C=) c.460-3C= (n.460-3C=) | |
10 | g.122506688C>G | CA2574697800 | HTRA1 | c.778-3C>G (n.778-3C>G) c.460-3C>G (n.460-3C>G) | gnomAD v4 |
10 | g.122506688C>T | CA660910306 | HTRA1 | c.778-3C>T (n.778-3C>T) c.460-3C>T (n.460-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506689A>C | CA378584809 | HTRA1 | c.778-2A>C (n.778-2A>C) c.460-2A>C (n.460-2A>C) | |
10 | g.122506689A>G | CA378584805 | HTRA1 | c.778-2A>G (n.778-2A>G) c.460-2A>G (n.460-2A>G) | |
10 | g.122506689A>T | CA378584806 | HTRA1 | c.778-2A>T (n.778-2A>T) c.460-2A>T (n.460-2A>T) | |
10 | g.122506690G>A | CA378584812 | HTRA1 | c.778-1G>A (n.778-1G>A) c.460-1G>A (n.460-1G>A) | dbSNP gnomAD v2 |
10 | g.122506690G>C | CA378584813 | HTRA1 | c.778-1G>C (n.778-1G>C) c.460-1G>C (n.460-1G>C) | |
10 | g.122506690G= | CA1941477184 | HTRA1 | c.778-1G= (n.778-1G=) c.460-1G= (n.460-1G=) | |
10 | g.122506690G>T | CA378584815 | HTRA1 | c.778-1G>T (n.778-1G>T) c.460-1G>T (n.460-1G>T) | |
10 | g.122506691G>A | CA378584824 | HTRA1 | c.778G>A (p.Gly260Ser) c.460G>A (p.Gly154Ser) c.1G>A (p.Gly1Ser) | COSMIC |
10 | g.122506691G>C | CA378584822 | HTRA1 | c.778G>C (p.Gly260Arg) c.460G>C (p.Gly154Arg) c.1G>C (p.Gly1Arg) | |
10 | g.122506691G>T | CA378584819 | HTRA1 | c.778G>T (p.Gly260Cys) c.460G>T (p.Gly154Cys) c.1G>T (p.Gly1Cys) | gnomAD v4 |
10 | g.122506692G>A | CA378584830 | HTRA1 | c.779G>A (p.Gly260Asp) c.461G>A (p.Gly154Asp) c.2G>A (p.Gly1Asp) | gnomAD v4 |
10 | g.122506692G>C | CA378584832 | HTRA1 | c.779G>C (p.Gly260Ala) c.461G>C (p.Gly154Ala) c.2G>C (p.Gly1Ala) | |
10 | g.122506692G>T | CA378584835 | HTRA1 | c.779G>T (p.Gly260Val) c.461G>T (p.Gly154Val) c.2G>T (p.Gly1Val) | |
10 | g.122506693C>A | CA471666546 | HTRA1 | c.780C>A (p.Gly260=) c.462C>A (p.Gly154=) c.3C>A (p.Gly1=) | gnomAD v4 |
10 | g.122506693C>G | CA471666545 | HTRA1 | c.780C>G (p.Gly260=) c.462C>G (p.Gly154=) c.3C>G (p.Gly1=) | |
10 | g.122506693C>T | CA471666544 | HTRA1 | c.780C>T (p.Gly260=) c.462C>T (p.Gly154=) c.3C>T (p.Gly1=) | |
10 | g.122506694A>C | CA378585190 | HTRA1 | c.781A>C (p.Lys261Gln) c.463A>C (p.Lys155Gln) c.4A>C (p.Lys2Gln) | |
10 | g.122506694A>G | CA378585191 | HTRA1 | c.781A>G (p.Lys261Glu) c.463A>G (p.Lys155Glu) c.4A>G (p.Lys2Glu) | |
10 | g.122506694A>T | CA378585192 | HTRA1 | c.781A>T (p.Lys261Ter) c.463A>T (p.Lys155Ter) c.4A>T (p.Lys2Ter) | |
10 | g.122506695A= | CA1941477185 | HTRA1 | c.782A= (p.Lys261=) c.464A= (p.Lys155=) c.5A= (p.Lys2=) | |
10 | g.122506695A>C | CA378585194 | HTRA1 | c.782A>C (p.Lys261Thr) c.464A>C (p.Lys155Thr) c.5A>C (p.Lys2Thr) | |
10 | g.122506695A>G | CA5725930 | HTRA1 | c.782A>G (p.Lys261Arg) c.464A>G (p.Lys155Arg) c.5A>G (p.Lys2Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506695A>T | CA378585195 | HTRA1 | c.782A>T (p.Lys261Met) c.464A>T (p.Lys155Met) c.5A>T (p.Lys2Met) | |
10 | g.122506696G>A | CA471666553 | HTRA1 | c.783G>A (p.Lys261=) c.465G>A (p.Lys155=) c.6G>A (p.Lys2=) | |
10 | g.122506696G>C | CA378585201 | HTRA1 | c.783G>C (p.Lys261Asn) c.465G>C (p.Lys155Asn) c.6G>C (p.Lys2Asn) | |
10 | g.122506696G>T | CA378585203 | HTRA1 | c.783G>T (p.Lys261Asn) c.465G>T (p.Lys155Asn) c.6G>T (p.Lys2Asn) | |
10 | g.122506697C>A | CA378585204 | HTRA1 | c.784C>A (p.Leu262Met) c.466C>A (p.Leu156Met) c.7C>A (p.Leu3Met) | gnomAD v4 |
10 | g.122506697C= | CA1941477186 | HTRA1 | c.784C= (p.Leu262=) c.466C= (p.Leu156=) c.7C= (p.Leu3=) | |
10 | g.122506697C>G | CA378585206 | HTRA1 | c.784C>G (p.Leu262Val) c.466C>G (p.Leu156Val) c.7C>G (p.Leu3Val) | |
10 | g.122506697C>T | CA471666557 | HTRA1 | c.784C>T (p.Leu262=) c.466C>T (p.Leu156=) c.7C>T (p.Leu3=) | dbSNP gnomAD v4 |
10 | g.122506698T>A | CA378585208 | HTRA1 | c.785T>A (p.Leu262Gln) c.467T>A (p.Leu156Gln) c.8T>A (p.Leu3Gln) | |
10 | g.122506698T>C | CA378585209 | HTRA1 | c.785T>C (p.Leu262Pro) c.467T>C (p.Leu156Pro) c.8T>C (p.Leu3Pro) | |
10 | g.122506698T>G | CA378585210 | HTRA1 | c.785T>G (p.Leu262Arg) c.467T>G (p.Leu156Arg) c.8T>G (p.Leu3Arg) | |
10 | g.122506699G>A | CA471666562 | HTRA1 | c.786G>A (p.Leu262=) c.468G>A (p.Leu156=) c.9G>A (p.Leu3=) | |
10 | g.122506699G>C | CA5725931 | HTRA1 | c.786G>C (p.Leu262=) c.468G>C (p.Leu156=) c.9G>C (p.Leu3=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506699G= | CA1941477187 | HTRA1 | c.786G= (p.Leu262=) c.468G= (p.Leu156=) c.9G= (p.Leu3=) | |
10 | g.122506699G>T | CA471666565 | HTRA1 | c.786G>T (p.Leu262=) c.468G>T (p.Leu156=) c.9G>T (p.Leu3=) | |
10 | g.122506700C>A | CA378585212 | HTRA1 | c.787C>A (p.Pro263Thr) c.469C>A (p.Pro157Thr) c.10C>A (p.Pro4Thr) | |
10 | g.122506700C= | CA1941477188 | HTRA1 | c.787C= (p.Pro263=) c.469C= (p.Pro157=) c.10C= (p.Pro4=) | |
10 | g.122506700C>G | CA378585213 | HTRA1 | c.787C>G (p.Pro263Ala) c.469C>G (p.Pro157Ala) c.10C>G (p.Pro4Ala) | dbSNP |
10 | g.122506700C>T | CA378585216 | HTRA1 | c.787C>T (p.Pro263Ser) c.469C>T (p.Pro157Ser) c.10C>T (p.Pro4Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506701C>A | CA378585226 | HTRA1 | c.788C>A (p.Pro263His) c.470C>A (p.Pro157His) c.11C>A (p.Pro4His) | |
10 | g.122506701C= | CA1941477189 | HTRA1 | c.788C= (p.Pro263=) c.470C= (p.Pro157=) c.11C= (p.Pro4=) | |
10 | g.122506701C>G | CA378585220 | HTRA1 | c.788C>G (p.Pro263Arg) c.470C>G (p.Pro157Arg) c.11C>G (p.Pro4Arg) | |
10 | g.122506701C>T | CA5725932 | HTRA1 | c.788C>T (p.Pro263Leu) c.470C>T (p.Pro157Leu) c.11C>T (p.Pro4Leu) | dbSNP ExAC gnomAD v2 |
10 | g.122506702T>A | CA471666572 | HTRA1 | c.789T>A (p.Pro263=) c.471T>A (p.Pro157=) c.12T>A (p.Pro4=) | gnomAD v4 |
10 | g.122506702T>C | CA471666573 | HTRA1 | c.789T>C (p.Pro263=) c.471T>C (p.Pro157=) c.12T>C (p.Pro4=) | gnomAD v4 |
10 | g.122506702T>G | CA471666574 | HTRA1 | c.789T>G (p.Pro263=) c.471T>G (p.Pro157=) c.12T>G (p.Pro4=) | |
10 | g.122506703G>A | CA378585231 | HTRA1 | c.790G>A (p.Val264Ile) c.472G>A (p.Val158Ile) c.13G>A (p.Val5Ile) | gnomAD v4 |
10 | g.122506703G>C | CA378585229 | HTRA1 | c.790G>C (p.Val264Leu) c.472G>C (p.Val158Leu) c.13G>C (p.Val5Leu) | gnomAD v4 |
10 | g.122506703G>T | CA378585233 | HTRA1 | c.790G>T (p.Val264Phe) c.472G>T (p.Val158Phe) c.13G>T (p.Val5Phe) | |
10 | g.122506704T>A | CA378585238 | HTRA1 | c.791T>A (p.Val264Asp) c.473T>A (p.Val158Asp) c.14T>A (p.Val5Asp) | |
10 | g.122506704T>C | CA378585244 | HTRA1 | c.791T>C (p.Val264Ala) c.473T>C (p.Val158Ala) c.14T>C (p.Val5Ala) | |
10 | g.122506704T>G | CA378585241 | HTRA1 | c.791T>G (p.Val264Gly) c.473T>G (p.Val158Gly) c.14T>G (p.Val5Gly) | |
10 | g.122506705C>A | CA471666583 | HTRA1 | c.792C>A (p.Val264=) c.474C>A (p.Val158=) c.15C>A (p.Val5=) | |
10 | g.122506705C>G | CA471666585 | HTRA1 | c.792C>G (p.Val264=) c.474C>G (p.Val158=) c.15C>G (p.Val5=) | |
10 | g.122506705C>T | CA471666586 | HTRA1 | c.792C>T (p.Val264=) c.474C>T (p.Val158=) c.15C>T (p.Val5=) | |
10 | g.122506706C>A | CA378585249 | HTRA1 | c.793C>A (p.Leu265Met) c.475C>A (p.Leu159Met) c.16C>A (p.Leu6Met) | |
10 | g.122506706C>G | CA378585251 | HTRA1 | c.793C>G (p.Leu265Val) c.475C>G (p.Leu159Val) c.16C>G (p.Leu6Val) | |
10 | g.122506706C>T | CA471666590 | HTRA1 | c.793C>T (p.Leu265=) c.475C>T (p.Leu159=) c.16C>T (p.Leu6=) | |
10 | g.122506707T>A | CA378585254 | HTRA1 | c.794T>A (p.Leu265Gln) c.476T>A (p.Leu159Gln) c.17T>A (p.Leu6Gln) | dbSNP |
10 | g.122506707T>C | CA378585255 | HTRA1 | c.794T>C (p.Leu265Pro) c.476T>C (p.Leu159Pro) c.17T>C (p.Leu6Pro) | |
10 | g.122506707T>G | CA378585259 | HTRA1 | c.794T>G (p.Leu265Arg) c.476T>G (p.Leu159Arg) c.17T>G (p.Leu6Arg) | |
10 | g.122506707T= | CA1941477190 | HTRA1 | c.794T= (p.Leu265=) c.476T= (p.Leu159=) c.17T= (p.Leu6=) | |
10 | g.122506708G>A | CA471666594 | HTRA1 | c.795G>A (p.Leu265=) c.477G>A (p.Leu159=) c.18G>A (p.Leu6=) | gnomAD v4 |
10 | g.122506708G>C | CA471666597 | HTRA1 | c.795G>C (p.Leu265=) c.477G>C (p.Leu159=) c.18G>C (p.Leu6=) | |
10 | g.122506708G>T | CA471666593 | HTRA1 | c.795G>T (p.Leu265=) c.477G>T (p.Leu159=) c.18G>T (p.Leu6=) | |
10 | g.122506709C>A | CA378585261 | HTRA1 | c.796C>A (p.Leu266Met) c.478C>A (p.Leu160Met) c.19C>A (p.Leu7Met) | |
10 | g.122506709C>G | CA378585265 | HTRA1 | c.796C>G (p.Leu266Val) c.478C>G (p.Leu160Val) c.19C>G (p.Leu7Val) | gnomAD v4 |
10 | g.122506709C>T | CA471666601 | HTRA1 | c.796C>T (p.Leu266=) c.478C>T (p.Leu160=) c.19C>T (p.Leu7=) | |
10 | g.122506710T>A | CA378585267 | HTRA1 | c.797T>A (p.Leu266Gln) c.479T>A (p.Leu160Gln) c.20T>A (p.Leu7Gln) | |
10 | g.122506710T>C | CA378585270 | HTRA1 | c.797T>C (p.Leu266Pro) c.479T>C (p.Leu160Pro) c.20T>C (p.Leu7Pro) | |
10 | g.122506710T>G | CA378585272 | HTRA1 | c.797T>G (p.Leu266Arg) c.479T>G (p.Leu160Arg) c.20T>G (p.Leu7Arg) | |
10 | g.122506711G>A | CA471666608 | HTRA1 | c.798G>A (p.Leu266=) c.480G>A (p.Leu160=) c.21G>A (p.Leu7=) | |
10 | g.122506711G>C | CA471666605 | HTRA1 | c.798G>C (p.Leu266=) c.480G>C (p.Leu160=) c.21G>C (p.Leu7=) | |
10 | g.122506711G>T | CA471666607 | HTRA1 | c.798G>T (p.Leu266=) c.480G>T (p.Leu160=) c.21G>T (p.Leu7=) | |
10 | g.122506712C>A | CA378585279 | HTRA1 | c.799C>A (p.Leu267Ile) c.481C>A (p.Leu161Ile) c.22C>A (p.Leu8Ile) | COSMIC |
10 | g.122506712C= | CA1941477191 | HTRA1 | c.799C= (p.Leu267=) c.481C= (p.Leu161=) c.22C= (p.Leu8=) | |
10 | g.122506712C>G | CA378585276 | HTRA1 | c.799C>G (p.Leu267Val) c.481C>G (p.Leu161Val) c.22C>G (p.Leu8Val) | |
10 | g.122506712C>T | CA378585274 | HTRA1 | c.799C>T (p.Leu267Phe) c.481C>T (p.Leu161Phe) c.22C>T (p.Leu8Phe) | dbSNP |
10 | g.122506713T>A | CA378585283 | HTRA1 | c.800T>A (p.Leu267His) c.482T>A (p.Leu161His) c.23T>A (p.Leu8His) | |
10 | g.122506713T>C | CA378585284 | HTRA1 | c.800T>C (p.Leu267Pro) c.482T>C (p.Leu161Pro) c.23T>C (p.Leu8Pro) | |
10 | g.122506713T>G | CA378585286 | HTRA1 | c.800T>G (p.Leu267Arg) c.482T>G (p.Leu161Arg) c.23T>G (p.Leu8Arg) | |
10 | g.122506714T>A | CA471666611 | HTRA1 | c.801T>A (p.Leu267=) c.483T>A (p.Leu161=) c.24T>A (p.Leu8=) | |
10 | g.122506714T>C | CA471666614 | HTRA1 | c.801T>C (p.Leu267=) c.483T>C (p.Leu161=) c.24T>C (p.Leu8=) | |
10 | g.122506714T>G | CA471666613 | HTRA1 | c.801T>G (p.Leu267=) c.483T>G (p.Leu161=) c.24T>G (p.Leu8=) | |
10 | g.122506715G>A | CA378585290 | HTRA1 | c.802G>A (p.Gly268Ser) c.484G>A (p.Gly162Ser) c.25G>A (p.Gly9Ser) | |
10 | g.122506715G>C | CA378585292 | HTRA1 | c.802G>C (p.Gly268Arg) c.484G>C (p.Gly162Arg) c.25G>C (p.Gly9Arg) | |
10 | g.122506715G= | CA1941477192 | HTRA1 | c.802G= (p.Gly268=) c.484G= (p.Gly162=) c.25G= (p.Gly9=) | |
10 | g.122506715G>T | CA378585295 | HTRA1 | c.802G>T (p.Gly268Cys) c.484G>T (p.Gly162Cys) c.25G>T (p.Gly9Cys) | dbSNP |
10 | g.122506716G>A | CA378585297 | HTRA1 | c.803G>A (p.Gly268Asp) c.485G>A (p.Gly162Asp) c.26G>A (p.Gly9Asp) | |
10 | g.122506716G>C | CA378585300 | HTRA1 | c.803G>C (p.Gly268Ala) c.485G>C (p.Gly162Ala) c.26G>C (p.Gly9Ala) | |
10 | g.122506716G>T | CA378585303 | HTRA1 | c.803G>T (p.Gly268Val) c.485G>T (p.Gly162Val) c.26G>T (p.Gly9Val) | |
10 | g.122506717C>A | CA471666620 | HTRA1 | c.804C>A (p.Gly268=) c.486C>A (p.Gly162=) c.27C>A (p.Gly9=) | |
10 | g.122506717C>G | CA471666622 | HTRA1 | c.804C>G (p.Gly268=) c.486C>G (p.Gly162=) c.27C>G (p.Gly9=) | |
10 | g.122506717C>T | CA471666624 | HTRA1 | c.804C>T (p.Gly268=) c.486C>T (p.Gly162=) c.27C>T (p.Gly9=) | |
10 | g.122506718C>A | CA5725934 | HTRA1 | c.805C>A (p.Arg269Ser) c.487C>A (p.Arg163Ser) c.28C>A (p.Arg10Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506718C= | CA1941477193 | HTRA1 | c.805C= (p.Arg269=) c.487C= (p.Arg163=) c.28C= (p.Arg10=) | |
10 | g.122506718C>G | CA378585306 | HTRA1 | c.805C>G (p.Arg269Gly) c.487C>G (p.Arg163Gly) c.28C>G (p.Arg10Gly) | dbSNP gnomAD v4 |
10 | g.122506718C>T | CA5725933 | HTRA1 | c.805C>T (p.Arg269Cys) c.487C>T (p.Arg163Cys) c.28C>T (p.Arg10Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506719G>A | CA5725935 | HTRA1 | c.806G>A (p.Arg269His) c.488G>A (p.Arg163His) c.29G>A (p.Arg10His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506719G>C | CA378585314 | HTRA1 | c.806G>C (p.Arg269Pro) c.488G>C (p.Arg163Pro) c.29G>C (p.Arg10Pro) | |
10 | g.122506719G= | CA1941477194 | HTRA1 | c.806G= (p.Arg269=) c.488G= (p.Arg163=) c.29G= (p.Arg10=) | |
10 | g.122506719G>T | CA378585310 | HTRA1 | c.806G>T (p.Arg269Leu) c.488G>T (p.Arg163Leu) c.29G>T (p.Arg10Leu) | |
10 | g.122506719dup | CA2695212889 | HTRA1 | c.806dup (p.Ser270LeufsTer?) c.488dup (p.Ser164LeufsTer?) c.29dup (p.Ser11LeufsTer?) | |
10 | g.122506720C>A | CA471666633 | HTRA1 | c.807C>A (p.Arg269=) c.489C>A (p.Arg163=) c.30C>A (p.Arg10=) | |
10 | g.122506720C= | CA1941477195 | HTRA1 | c.807C= (p.Arg269=) c.489C= (p.Arg163=) c.30C= (p.Arg10=) | |
10 | g.122506720C>G | CA471666635 | HTRA1 | c.807C>G (p.Arg269=) c.489C>G (p.Arg163=) c.30C>G (p.Arg10=) | |
10 | g.122506720C>T | CA471666637 | HTRA1 | c.807C>T (p.Arg269=) c.489C>T (p.Arg163=) c.30C>T (p.Arg10=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506721T>A | CA378585316 | HTRA1 | c.808T>A (p.Ser270Thr) c.490T>A (p.Ser164Thr) c.31T>A (p.Ser11Thr) | |
10 | g.122506721T>C | CA378585319 | HTRA1 | c.808T>C (p.Ser270Pro) c.490T>C (p.Ser164Pro) c.31T>C (p.Ser11Pro) | |
10 | g.122506721T>G | CA378585320 | HTRA1 | c.808T>G (p.Ser270Ala) c.490T>G (p.Ser164Ala) c.31T>G (p.Ser11Ala) | |
10 | g.122506722C>A | CA378585322 | HTRA1 | c.809C>A (p.Ser270Tyr) c.491C>A (p.Ser164Tyr) c.32C>A (p.Ser11Tyr) | ClinVar |
10 | g.122506722C= | CA1941477196 | HTRA1 | c.809C= (p.Ser270=) c.491C= (p.Ser164=) c.32C= (p.Ser11=) | |
10 | g.122506722C>G | CA378585325 | HTRA1 | c.809C>G (p.Ser270Cys) c.491C>G (p.Ser164Cys) c.32C>G (p.Ser11Cys) | |
10 | g.122506722C>T | CA378585327 | HTRA1 | c.809C>T (p.Ser270Phe) c.491C>T (p.Ser164Phe) c.32C>T (p.Ser11Phe) | ClinVar dbSNP gnomAD v4 |
10 | g.122506723C>A | CA471666645 | HTRA1 | c.810C>A (p.Ser270=) c.492C>A (p.Ser164=) c.33C>A (p.Ser11=) | |
10 | g.122506723C>G | CA471666647 | HTRA1 | c.810C>G (p.Ser270=) c.492C>G (p.Ser164=) c.33C>G (p.Ser11=) | |
10 | g.122506723C>T | CA471666649 | HTRA1 | c.810C>T (p.Ser270=) c.492C>T (p.Ser164=) c.33C>T (p.Ser11=) | |
10 | g.122506724T>A | CA378585331 | HTRA1 | c.811T>A (p.Ser271Thr) c.493T>A (p.Ser165Thr) c.34T>A (p.Ser12Thr) | dbSNP |
10 | g.122506724T>C | CA378585333 | HTRA1 | c.811T>C (p.Ser271Pro) c.493T>C (p.Ser165Pro) c.34T>C (p.Ser12Pro) | gnomAD v4 |
10 | g.122506724T>G | CA378585335 | HTRA1 | c.811T>G (p.Ser271Ala) c.493T>G (p.Ser165Ala) c.34T>G (p.Ser12Ala) | |
10 | g.122506724T= | CA1941477197 | HTRA1 | c.811T= (p.Ser271=) c.493T= (p.Ser165=) c.34T= (p.Ser12=) | |
10 | g.122506725C>A | CA378585338 | HTRA1 | c.812C>A (p.Ser271Ter) c.494C>A (p.Ser165Ter) c.35C>A (p.Ser12Ter) | |
10 | g.122506725C= | CA1941477198 | HTRA1 | c.812C= (p.Ser271=) c.494C= (p.Ser165=) c.35C= (p.Ser12=) | |
10 | g.122506725C>G | CA378585341 | HTRA1 | c.812C>G (p.Ser271Ter) c.494C>G (p.Ser165Ter) c.35C>G (p.Ser12Ter) | |
10 | g.122506725C>T | CA214411222 | HTRA1 | c.812C>T (p.Ser271Leu) c.494C>T (p.Ser165Leu) c.35C>T (p.Ser12Leu) | dbSNP COSMIC |
10 | g.122506726A>C | CA471666658 | HTRA1 | c.813A>C (p.Ser271=) c.495A>C (p.Ser165=) c.36A>C (p.Ser12=) | |
10 | g.122506726A>G | CA471666660 | HTRA1 | c.813A>G (p.Ser271=) c.495A>G (p.Ser165=) c.36A>G (p.Ser12=) | |
10 | g.122506726A>T | CA471666662 | HTRA1 | c.813A>T (p.Ser271=) c.495A>T (p.Ser165=) c.36A>T (p.Ser12=) | |
10 | g.122506727G>A | CA378585346 | HTRA1 | c.814G>A (p.Glu272Lys) c.496G>A (p.Glu166Lys) c.37G>A (p.Glu13Lys) | |
10 | g.122506727G>C | CA378585350 | HTRA1 | c.814G>C (p.Glu272Gln) c.496G>C (p.Glu166Gln) c.37G>C (p.Glu13Gln) | |
10 | g.122506727G>T | CA378585344 | HTRA1 | c.814G>T (p.Glu272Ter) c.496G>T (p.Glu166Ter) c.37G>T (p.Glu13Ter) | |
10 | g.122506728A= | CA1941477199 | HTRA1 | c.815A= (p.Glu272=) c.497A= (p.Glu166=) c.38A= (p.Glu13=) | |
10 | g.122506728A>C | CA378585351 | HTRA1 | c.815A>C (p.Glu272Ala) c.497A>C (p.Glu166Ala) c.38A>C (p.Glu13Ala) | |
10 | g.122506728A>G | CA378585352 | HTRA1 | c.815A>G (p.Glu272Gly) c.497A>G (p.Glu166Gly) c.38A>G (p.Glu13Gly) | dbSNP gnomAD v4 |
10 | g.122506728A>T | CA5725936 | HTRA1 | c.815A>T (p.Glu272Val) c.497A>T (p.Glu166Val) c.38A>T (p.Glu13Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506729G>A | CA471666671 | HTRA1 | c.816G>A (p.Glu272=) c.498G>A (p.Glu166=) c.39G>A (p.Glu13=) | |
10 | g.122506729G>C | CA378585360 | HTRA1 | c.816G>C (p.Glu272Asp) c.498G>C (p.Glu166Asp) c.39G>C (p.Glu13Asp) | |
10 | g.122506729G>T | CA378585361 | HTRA1 | c.816G>T (p.Glu272Asp) c.498G>T (p.Glu166Asp) c.39G>T (p.Glu13Asp) | |
10 | g.122506730C>A | CA378585366 | HTRA1 | c.817C>A (p.Leu273Met) c.499C>A (p.Leu167Met) c.40C>A (p.Leu14Met) | |
10 | g.122506730C>G | CA378585364 | HTRA1 | c.817C>G (p.Leu273Val) c.499C>G (p.Leu167Val) c.40C>G (p.Leu14Val) | |
10 | g.122506730C>T | CA471666675 | HTRA1 | c.817C>T (p.Leu273=) c.499C>T (p.Leu167=) c.40C>T (p.Leu14=) |