Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.122506687T>G | CA2840053573 | HTRA1 | c.778-4T>G (n.778-4T>G) c.460-4T>G (n.460-4T>G) | |
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.122506704dup | CA2842616626 | HTRA1 | c.791dup (p.Leu265ProfsTer?) c.473dup (p.Leu159ProfsTer?) c.14dup (p.Leu6ProfsTer?) | |
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=) | |
10 | g.122506731T>A | CA378585368 | HTRA1 | c.818T>A (p.Leu273Gln) c.500T>A (p.Leu167Gln) c.41T>A (p.Leu14Gln) | |
10 | g.122506731T>C | CA378585369 | HTRA1 | c.818T>C (p.Leu273Pro) c.500T>C (p.Leu167Pro) c.41T>C (p.Leu14Pro) | |
10 | g.122506731T>G | CA378585371 | HTRA1 | c.818T>G (p.Leu273Arg) c.500T>G (p.Leu167Arg) c.41T>G (p.Leu14Arg) | |
10 | g.122506732G>A | CA5725937 | HTRA1 | c.819G>A (p.Leu273=) c.501G>A (p.Leu167=) c.42G>A (p.Leu14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506732G>C | CA471666682 | HTRA1 | c.819G>C (p.Leu273=) c.501G>C (p.Leu167=) c.42G>C (p.Leu14=) | |
10 | g.122506732G= | CA1941477200 | HTRA1 | c.819G= (p.Leu273=) c.501G= (p.Leu167=) c.42G= (p.Leu14=) | |
10 | g.122506732G>T | CA471666684 | HTRA1 | c.819G>T (p.Leu273=) c.501G>T (p.Leu167=) c.42G>T (p.Leu14=) | |
10 | g.122506733C>A | CA471666685 | HTRA1 | c.820C>A (p.Arg274=) c.502C>A (p.Arg168=) c.43C>A (p.Arg15=) | |
10 | g.122506733C= | CA1941477201 | HTRA1 | c.820C= (p.Arg274=) c.502C= (p.Arg168=) c.43C= (p.Arg15=) | |
10 | g.122506733C>G | CA378585374 | HTRA1 | c.820C>G (p.Arg274Gly) c.502C>G (p.Arg168Gly) c.43C>G (p.Arg15Gly) | ClinVar dbSNP |
10 | g.122506733C>T | CA5725938 | HTRA1 | c.820C>T (p.Arg274Trp) c.502C>T (p.Arg168Trp) c.43C>T (p.Arg15Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506734G>A | CA345923 | HTRA1 | c.821G>A (p.Arg274Gln) c.503G>A (p.Arg168Gln) c.44G>A (p.Arg15Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506734G>C | CA378585381 | HTRA1 | c.821G>C (p.Arg274Pro) c.503G>C (p.Arg168Pro) c.44G>C (p.Arg15Pro) | |
10 | g.122506734G= | CA1941477202 | HTRA1 | c.821G= (p.Arg274=) c.503G= (p.Arg168=) c.44G= (p.Arg15=) | |
10 | g.122506734G>T | CA378585379 | HTRA1 | c.821G>T (p.Arg274Leu) c.503G>T (p.Arg168Leu) c.44G>T (p.Arg15Leu) | |
10 | g.122506735G>A | CA471666691 | HTRA1 | c.822G>A (p.Arg274=) c.504G>A (p.Arg168=) c.45G>A (p.Arg15=) | |
10 | g.122506735G>C | CA471666692 | HTRA1 | c.822G>C (p.Arg274=) c.504G>C (p.Arg168=) c.45G>C (p.Arg15=) | |
10 | g.122506735G>T | CA471666697 | HTRA1 | c.822G>T (p.Arg274=) c.504G>T (p.Arg168=) c.45G>T (p.Arg15=) | gnomAD v4 |
10 | g.122506736C>A | CA378585382 | HTRA1 | c.823C>A (p.Pro275Thr) c.505C>A (p.Pro169Thr) c.46C>A (p.Pro16Thr) | |
10 | g.122506736C= | CA1941477203 | HTRA1 | c.823C= (p.Pro275=) c.505C= (p.Pro169=) c.46C= (p.Pro16=) | |
10 | g.122506736C>G | CA378585383 | HTRA1 | c.823C>G (p.Pro275Ala) c.505C>G (p.Pro169Ala) c.46C>G (p.Pro16Ala) | |
10 | g.122506736C>T | CA378585384 | HTRA1 | c.823C>T (p.Pro275Ser) c.505C>T (p.Pro169Ser) c.46C>T (p.Pro16Ser) | dbSNP |
10 | g.122506737C>A | CA378585386 | HTRA1 | c.824C>A (p.Pro275Gln) c.506C>A (p.Pro169Gln) c.47C>A (p.Pro16Gln) | |
10 | g.122506737C= | CA1941477204 | HTRA1 | c.824C= (p.Pro275=) c.506C= (p.Pro169=) c.47C= (p.Pro16=) | |
10 | g.122506737C>G | CA378585391 | HTRA1 | c.824C>G (p.Pro275Arg) c.506C>G (p.Pro169Arg) c.47C>G (p.Pro16Arg) | |
10 | g.122506737C>T | CA5725939 | HTRA1 | c.824C>T (p.Pro275Leu) c.506C>T (p.Pro169Leu) c.47C>T (p.Pro16Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506738G>A | CA5725940 | HTRA1 | c.825G>A (p.Pro275=) c.507G>A (p.Pro169=) c.48G>A (p.Pro16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506738G>C | CA471666706 | HTRA1 | c.825G>C (p.Pro275=) c.507G>C (p.Pro169=) c.48G>C (p.Pro16=) | |
10 | g.122506738G= | CA1941477205 | HTRA1 | c.825G= (p.Pro275=) c.507G= (p.Pro169=) c.48G= (p.Pro16=) | |
10 | g.122506738G>T | CA471666709 | HTRA1 | c.825G>T (p.Pro275=) c.507G>T (p.Pro169=) c.48G>T (p.Pro16=) | |
10 | g.122506740del | CA2842616627 | HTRA1 | c.827del (p.Gly276GlufsTer22) c.509del (p.Gly170GlufsTer22) c.50del (p.Gly17GlufsTer22) | |
10 | g.122506739G>A | CA378585397 | HTRA1 | c.826G>A (p.Gly276Arg) c.508G>A (p.Gly170Arg) c.49G>A (p.Gly17Arg) | COSMIC |
10 | g.122506739G>C | CA378585398 | HTRA1 | c.826G>C (p.Gly276Arg) c.508G>C (p.Gly170Arg) c.49G>C (p.Gly17Arg) | |
10 | g.122506739G>T | CA378585401 | HTRA1 | c.826G>T (p.Gly276Ter) c.508G>T (p.Gly170Ter) c.49G>T (p.Gly17Ter) | |
10 | g.122506740G>A | CA378585405 | HTRA1 | c.827G>A (p.Gly276Glu) c.509G>A (p.Gly170Glu) c.50G>A (p.Gly17Glu) | |
10 | g.122506740G>C | CA378585406 | HTRA1 | c.827G>C (p.Gly276Ala) c.509G>C (p.Gly170Ala) c.50G>C (p.Gly17Ala) | ClinVar dbSNP |
10 | g.122506740G= | CA1941477206 | HTRA1 | c.827G= (p.Gly276=) c.509G= (p.Gly170=) c.50G= (p.Gly17=) | |
10 | g.122506740G>T | CA378585409 | HTRA1 | c.827G>T (p.Gly276Val) c.509G>T (p.Gly170Val) c.50G>T (p.Gly17Val) | |
10 | g.122506743_122506744del | CA2695212890 | HTRA1 | c.830_831del (p.Glu277ValfsTer?) c.512_513del (p.Glu171ValfsTer?) c.53_54del (p.Glu18ValfsTer?) | |
10 | g.122506741A= | CA1941477207 | HTRA1 | c.828A= (p.Gly276=) c.510A= (p.Gly170=) c.51A= (p.Gly17=) | |
10 | g.122506741A>C | CA471666717 | HTRA1 | c.828A>C (p.Gly276=) c.510A>C (p.Gly170=) c.51A>C (p.Gly17=) | |
10 | g.122506741A>G | CA471666718 | HTRA1 | c.828A>G (p.Gly276=) c.510A>G (p.Gly170=) c.51A>G (p.Gly17=) | dbSNP |
10 | g.122506741A>T | CA471666720 | HTRA1 | c.828A>T (p.Gly276=) c.510A>T (p.Gly170=) c.51A>T (p.Gly17=) | |
10 | g.122506742G>A | CA378585416 | HTRA1 | c.829G>A (p.Glu277Lys) c.511G>A (p.Glu171Lys) c.52G>A (p.Glu18Lys) | |
10 | g.122506742G>C | CA378585415 | HTRA1 | c.829G>C (p.Glu277Gln) c.511G>C (p.Glu171Gln) c.52G>C (p.Glu18Gln) | COSMIC |
10 | g.122506742G>T | CA378585413 | HTRA1 | c.829G>T (p.Glu277Ter) c.511G>T (p.Glu171Ter) c.52G>T (p.Glu18Ter) | |
10 | g.122506743del | CA2695212891 | HTRA1 | c.830del (p.Glu277GlyfsTer21) c.512del (p.Glu171GlyfsTer21) c.53del (p.Glu18GlyfsTer21) | |
10 | g.122506743A>C | CA378585419 | HTRA1 | c.830A>C (p.Glu277Ala) c.512A>C (p.Glu171Ala) c.53A>C (p.Glu18Ala) | |
10 | g.122506743A>G | CA378585420 | HTRA1 | c.830A>G (p.Glu277Gly) c.512A>G (p.Glu171Gly) c.53A>G (p.Glu18Gly) | |
10 | g.122506743A>T | CA378585423 | HTRA1 | c.830A>T (p.Glu277Val) c.512A>T (p.Glu171Val) c.53A>T (p.Glu18Val) | |
10 | g.122506744G>A | CA471666729 | HTRA1 | c.831G>A (p.Glu277=) c.513G>A (p.Glu171=) c.54G>A (p.Glu18=) | |
10 | g.122506744G>C | CA378585426 | HTRA1 | c.831G>C (p.Glu277Asp) c.513G>C (p.Glu171Asp) c.54G>C (p.Glu18Asp) | |
10 | g.122506744G>T | CA378585428 | HTRA1 | c.831G>T (p.Glu277Asp) c.513G>T (p.Glu171Asp) c.54G>T (p.Glu18Asp) | |
10 | g.122506744_122506745delinsGT | CA1941477208 | HTRA1 | c.831_832delinsGT (p.Glu277=) c.513_514delinsGT (p.Glu171=) c.54_55delinsGT (p.Glu18=) | |
10 | g.122506745T>A | CA378585430 | HTRA1 | c.832T>A (p.Phe278Ile) c.514T>A (p.Phe172Ile) c.55T>A (p.Phe19Ile) | |
10 | g.122506745T>C | CA5725941 | HTRA1 | c.832T>C (p.Phe278Leu) c.514T>C (p.Phe172Leu) c.55T>C (p.Phe19Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506745T>G | CA378585434 | HTRA1 | c.832T>G (p.Phe278Val) c.514T>G (p.Phe172Val) c.55T>G (p.Phe19Val) | dbSNP |
10 | g.122506745T= | CA1941477209 | HTRA1 | c.832T= (p.Phe278=) c.514T= (p.Phe172=) c.55T= (p.Phe19=) | |
10 | g.122506746del | CA596579032 | HTRA1 | c.833del (p.Phe278SerfsTer20) c.515del (p.Phe172SerfsTer20) c.56del (p.Phe19SerfsTer20) | dbSNP gnomAD v2 |
10 | g.122506746T>A | CA378585438 | HTRA1 | c.833T>A (p.Phe278Tyr) c.515T>A (p.Phe172Tyr) c.56T>A (p.Phe19Tyr) | |
10 | g.122506746T>C | CA378585440 | HTRA1 | c.833T>C (p.Phe278Ser) c.515T>C (p.Phe172Ser) c.56T>C (p.Phe19Ser) | |
10 | g.122506746T>G | CA378585443 | HTRA1 | c.833T>G (p.Phe278Cys) c.515T>G (p.Phe172Cys) c.56T>G (p.Phe19Cys) | |
10 | g.122506747C>A | CA378585444 | HTRA1 | c.834C>A (p.Phe278Leu) c.516C>A (p.Phe172Leu) c.57C>A (p.Phe19Leu) | gnomAD v4 |
10 | g.122506747C= | CA1941477210 | HTRA1 | c.834C= (p.Phe278=) c.516C= (p.Phe172=) c.57C= (p.Phe19=) | |
10 | g.122506747C>G | CA378585447 | HTRA1 | c.834C>G (p.Phe278Leu) c.516C>G (p.Phe172Leu) c.57C>G (p.Phe19Leu) | |
10 | g.122506747C>T | CA5725942 | HTRA1 | c.834C>T (p.Phe278=) c.516C>T (p.Phe172=) c.57C>T (p.Phe19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506748G>A | CA5725943 | HTRA1 | c.835G>A (p.Val279Met) c.517G>A (p.Val173Met) c.58G>A (p.Val20Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506748G>C | CA378585452 | HTRA1 | c.835G>C (p.Val279Leu) c.517G>C (p.Val173Leu) c.58G>C (p.Val20Leu) | gnomAD v4 |
10 | g.122506748G= | CA1941477211 | HTRA1 | c.835G= (p.Val279=) c.517G= (p.Val173=) c.58G= (p.Val20=) | |
10 | g.122506748G>T | CA378585449 | HTRA1 | c.835G>T (p.Val279Leu) c.517G>T (p.Val173Leu) c.58G>T (p.Val20Leu) | gnomAD v4 |
10 | g.122506749T>A | CA378585456 | HTRA1 | c.836T>A (p.Val279Glu) c.518T>A (p.Val173Glu) c.59T>A (p.Val20Glu) | |
10 | g.122506749T>C | CA378585457 | HTRA1 | c.836T>C (p.Val279Ala) c.518T>C (p.Val173Ala) c.59T>C (p.Val20Ala) | |
10 | g.122506749T>G | CA378585458 | HTRA1 | c.836T>G (p.Val279Gly) c.518T>G (p.Val173Gly) c.59T>G (p.Val20Gly) | |
10 | g.122506750G>A | CA5725944 | HTRA1 | c.837G>A (p.Val279=) c.519G>A (p.Val173=) c.60G>A (p.Val20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506750G>C | CA471666745 | HTRA1 | c.837G>C (p.Val279=) c.519G>C (p.Val173=) c.60G>C (p.Val20=) | |
10 | g.122506750G= | CA1941477212 | HTRA1 | c.837G= (p.Val279=) c.519G= (p.Val173=) c.60G= (p.Val20=) | |
10 | g.122506750G>T | CA471666744 | HTRA1 | c.837G>T (p.Val279=) c.519G>T (p.Val173=) c.60G>T (p.Val20=) | |
10 | g.122506751G>A | CA5725945 | HTRA1 | c.838G>A (p.Val280Ile) c.520G>A (p.Val174Ile) c.61G>A (p.Val21Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506751G>C | CA378585464 | HTRA1 | c.838G>C (p.Val280Leu) c.520G>C (p.Val174Leu) c.61G>C (p.Val21Leu) | dbSNP |
10 | g.122506751G= | CA1941477213 | HTRA1 | c.838G= (p.Val280=) c.520G= (p.Val174=) c.61G= (p.Val21=) | |
10 | g.122506751G>T | CA378585466 | HTRA1 | c.838G>T (p.Val280Phe) c.520G>T (p.Val174Phe) c.61G>T (p.Val21Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506752T>A | CA378585467 | HTRA1 | c.839T>A (p.Val280Asp) c.521T>A (p.Val174Asp) c.62T>A (p.Val21Asp) | |
10 | g.122506752T>C | CA378585469 | HTRA1 | c.839T>C (p.Val280Ala) c.521T>C (p.Val174Ala) c.62T>C (p.Val21Ala) | |
10 | g.122506752T>G | CA378585471 | HTRA1 | c.839T>G (p.Val280Gly) c.521T>G (p.Val174Gly) c.62T>G (p.Val21Gly) | |
10 | g.122506755_122506760dup | CA2697558800 | HTRA1 | c.842_847dup (p.Ile282_Gly283insAlaIle) c.524_529dup (p.Ile176_Gly177insAlaIle) c.65_70dup (p.Ile23_Gly24insAlaIle) | ClinVar |
10 | g.122506753C>A | CA5725947 | HTRA1 | c.840C>A (p.Val280=) c.522C>A (p.Val174=) c.63C>A (p.Val21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506753C= | CA1941477214 | HTRA1 | c.840C= (p.Val280=) c.522C= (p.Val174=) c.63C= (p.Val21=) | |
10 | g.122506753C>G | CA471666753 | HTRA1 | c.840C>G (p.Val280=) c.522C>G (p.Val174=) c.63C>G (p.Val21=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506753C>T | CA5725946 | HTRA1 | c.840C>T (p.Val280=) c.522C>T (p.Val174=) c.63C>T (p.Val21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506754G>A | CA5725948 | HTRA1 | c.841G>A (p.Ala281Thr) c.523G>A (p.Ala175Thr) c.64G>A (p.Ala22Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506754G>C | CA378585474 | HTRA1 | c.841G>C (p.Ala281Pro) c.523G>C (p.Ala175Pro) c.64G>C (p.Ala22Pro) | |
10 | g.122506754G= | CA1941477215 | HTRA1 | c.841G= (p.Ala281=) c.523G= (p.Ala175=) c.64G= (p.Ala22=) | |
10 | g.122506754G>T | CA214411292 | HTRA1 | c.841G>T (p.Ala281Ser) c.523G>T (p.Ala175Ser) c.64G>T (p.Ala22Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506755C>A | CA378585476 | HTRA1 | c.842C>A (p.Ala281Asp) c.524C>A (p.Ala175Asp) c.65C>A (p.Ala22Asp) | |
10 | g.122506755C>G | CA378585477 | HTRA1 | c.842C>G (p.Ala281Gly) c.524C>G (p.Ala175Gly) c.65C>G (p.Ala22Gly) | |
10 | g.122506755C>T | CA378585479 | HTRA1 | c.842C>T (p.Ala281Val) c.524C>T (p.Ala175Val) c.65C>T (p.Ala22Val) | |
10 | g.122506756C>A | CA471666762 | HTRA1 | c.843C>A (p.Ala281=) c.525C>A (p.Ala175=) c.66C>A (p.Ala22=) | |
10 | g.122506756C= | CA1941477216 | HTRA1 | c.843C= (p.Ala281=) c.525C= (p.Ala175=) c.66C= (p.Ala22=) | |
10 | g.122506756C>G | CA471666764 | HTRA1 | c.843C>G (p.Ala281=) c.525C>G (p.Ala175=) c.66C>G (p.Ala22=) | |
10 | g.122506756C>T | CA5725949 | HTRA1 | c.843C>T (p.Ala281=) c.525C>T (p.Ala175=) c.66C>T (p.Ala22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506757A= | CA1941477217 | HTRA1 | c.844A= (p.Ile282=) c.526A= (p.Ile176=) c.67A= (p.Ile23=) | |
10 | g.122506757A>C | CA378585482 | HTRA1 | c.844A>C (p.Ile282Leu) c.526A>C (p.Ile176Leu) c.67A>C (p.Ile23Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506757A>G | CA378585485 | HTRA1 | c.844A>G (p.Ile282Val) c.526A>G (p.Ile176Val) c.67A>G (p.Ile23Val) | gnomAD v4 |
10 | g.122506757A>T | CA378585486 | HTRA1 | c.844A>T (p.Ile282Phe) c.526A>T (p.Ile176Phe) c.67A>T (p.Ile23Phe) | |
10 | g.122506758T>A | CA378585487 | HTRA1 | c.845T>A (p.Ile282Asn) c.527T>A (p.Ile176Asn) c.68T>A (p.Ile23Asn) | |
10 | g.122506758T>C | CA5725950 | HTRA1 | c.845T>C (p.Ile282Thr) c.527T>C (p.Ile176Thr) c.68T>C (p.Ile23Thr) | dbSNP ExAC gnomAD v2 |
10 | g.122506758T>G | CA378585489 | HTRA1 | c.845T>G (p.Ile282Ser) c.527T>G (p.Ile176Ser) c.68T>G (p.Ile23Ser) | |
10 | g.122506758T= | CA1941477218 | HTRA1 | c.845T= (p.Ile282=) c.527T= (p.Ile176=) c.68T= (p.Ile23=) | |
10 | g.122506759C>A | CA5725952 | HTRA1 | c.846C>A (p.Ile282=) c.528C>A (p.Ile176=) c.69C>A (p.Ile23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506759C= | CA1941477219 | HTRA1 | c.846C= (p.Ile282=) c.528C= (p.Ile176=) c.69C= (p.Ile23=) | |
10 | g.122506759C>G | CA378585493 | HTRA1 | c.846C>G (p.Ile282Met) c.528C>G (p.Ile176Met) c.69C>G (p.Ile23Met) | gnomAD v4 |
10 | g.122506759C>T | CA5725951 | HTRA1 | c.846C>T (p.Ile282=) c.528C>T (p.Ile176=) c.69C>T (p.Ile23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506760G>A | CA5725953 | HTRA1 | c.847G>A (p.Gly283Arg) c.529G>A (p.Gly177Arg) c.70G>A (p.Gly24Arg) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
10 | g.122506760G>C | CA378585498 | HTRA1 | c.847G>C (p.Gly283Arg) c.529G>C (p.Gly177Arg) c.70G>C (p.Gly24Arg) | gnomAD v4 |
10 | g.122506760G= | CA1941477220 | HTRA1 | c.847G= (p.Gly283=) c.529G= (p.Gly177=) c.70G= (p.Gly24=) | |
10 | g.122506760G>T | CA378585495 | HTRA1 | c.847G>T (p.Gly283Ter) c.529G>T (p.Gly177Ter) c.70G>T (p.Gly24Ter) | dbSNP |
10 | g.122506761G>A | CA378585501 | HTRA1 | c.848G>A (p.Gly283Glu) c.530G>A (p.Gly177Glu) c.71G>A (p.Gly24Glu) | |
10 | g.122506761G>C | CA5725954 | HTRA1 | c.848G>C (p.Gly283Ala) c.530G>C (p.Gly177Ala) c.71G>C (p.Gly24Ala) | dbSNP ExAC gnomAD v2 |
10 | g.122506761G= | CA1941477221 | HTRA1 | c.848G= (p.Gly283=) c.530G= (p.Gly177=) c.71G= (p.Gly24=) | |
10 | g.122506761G>T | CA378585503 | HTRA1 | c.848G>T (p.Gly283Val) c.530G>T (p.Gly177Val) c.71G>T (p.Gly24Val) | |
10 | g.122506762A= | CA1941477222 | HTRA1 | c.849A= (p.Gly283=) c.531A= (p.Gly177=) c.72A= (p.Gly24=) | |
10 | g.122506762A>C | CA471666779 | HTRA1 | c.849A>C (p.Gly283=) c.531A>C (p.Gly177=) c.72A>C (p.Gly24=) | |
10 | g.122506762A>G | CA5725955 | HTRA1 | c.849A>G (p.Gly283=) c.531A>G (p.Gly177=) c.72A>G (p.Gly24=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506762A>T | CA471666781 | HTRA1 | c.849A>T (p.Gly283=) c.531A>T (p.Gly177=) c.72A>T (p.Gly24=) | |
10 | g.122506763A= | CA1941477223 | HTRA1 | c.850A= (p.Ser284=) c.532A= (p.Ser178=) c.73A= (p.Ser25=) | |
10 | g.122506763A>C | CA378585511 | HTRA1 | c.850A>C (p.Ser284Arg) c.532A>C (p.Ser178Arg) c.73A>C (p.Ser25Arg) | |
10 | g.122506763A>G | CA378585507 | HTRA1 | c.850A>G (p.Ser284Gly) c.532A>G (p.Ser178Gly) c.73A>G (p.Ser25Gly) | |
10 | g.122506763A>T | CA378585509 | HTRA1 | c.850A>T (p.Ser284Cys) c.532A>T (p.Ser178Cys) c.73A>T (p.Ser25Cys) | |
10 | g.122506764G>A | CA378585513 | HTRA1 | c.851G>A (p.Ser284Asn) c.533G>A (p.Ser178Asn) c.74G>A (p.Ser25Asn) | |
10 | g.122506764G>C | CA378585515 | HTRA1 | c.851G>C (p.Ser284Thr) c.533G>C (p.Ser178Thr) c.74G>C (p.Ser25Thr) | |
10 | g.122506764G>T | CA378585517 | HTRA1 | c.851G>T (p.Ser284Ile) c.533G>T (p.Ser178Ile) c.74G>T (p.Ser25Ile) | |
10 | g.122506764dup | CA918779412 | HTRA1 | c.851dup (p.Ser284ArgfsTer?) c.533dup (p.Ser178ArgfsTer?) c.74dup (p.Ser25ArgfsTer?) | dbSNP |
10 | g.122506765C>A | CA350890 | HTRA1 | c.852C>A (p.Ser284Arg) c.534C>A (p.Ser178Arg) c.75C>A (p.Ser25Arg) | ClinVar dbSNP |
10 | g.122506765C= | CA1941477224 | HTRA1 | c.852C= (p.Ser284=) c.534C= (p.Ser178=) c.75C= (p.Ser25=) | |
10 | g.122506765C>G | CA378585519 | HTRA1 | c.852C>G (p.Ser284Arg) c.534C>G (p.Ser178Arg) c.75C>G (p.Ser25Arg) | |
10 | g.122506765C>T | CA471666795 | HTRA1 | c.852C>T (p.Ser284=) c.534C>T (p.Ser178=) c.75C>T (p.Ser25=) | |
10 | g.122506766C>A | CA378585522 | HTRA1 | c.853C>A (p.Pro285Thr) c.535C>A (p.Pro179Thr) c.76C>A (p.Pro26Thr) | |
10 | g.122506766C>G | CA378585526 | HTRA1 | c.853C>G (p.Pro285Ala) c.535C>G (p.Pro179Ala) c.76C>G (p.Pro26Ala) | |
10 | g.122506766C>T | CA378585524 | HTRA1 | c.853C>T (p.Pro285Ser) c.535C>T (p.Pro179Ser) c.76C>T (p.Pro26Ser) | |
10 | g.122506767C>A | CA378585528 | HTRA1 | c.854C>A (p.Pro285Gln) c.536C>A (p.Pro179Gln) c.77C>A (p.Pro26Gln) | |
10 | g.122506767C= | CA1941477225 | HTRA1 | c.854C= (p.Pro285=) c.536C= (p.Pro179=) c.77C= (p.Pro26=) | |
10 | g.122506767C>G | CA378585530 | HTRA1 | c.854C>G (p.Pro285Arg) c.536C>G (p.Pro179Arg) c.77C>G (p.Pro26Arg) | |
10 | g.122506767C>T | CA345925 | HTRA1 | c.854C>T (p.Pro285Leu) c.536C>T (p.Pro179Leu) c.77C>T (p.Pro26Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506768G>A | CA5725956 | HTRA1 | c.855G>A (p.Pro285=) c.537G>A (p.Pro179=) c.78G>A (p.Pro26=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506768G>C | CA471666804 | HTRA1 | c.855G>C (p.Pro285=) c.537G>C (p.Pro179=) c.78G>C (p.Pro26=) | dbSNP |
10 | g.122506768G= | CA1941477226 | HTRA1 | c.855G= (p.Pro285=) c.537G= (p.Pro179=) c.78G= (p.Pro26=) | |
10 | g.122506768G>T | CA471666805 | HTRA1 | c.855G>T (p.Pro285=) c.537G>T (p.Pro179=) c.78G>T (p.Pro26=) | |
10 | g.122506769T>A | CA378585534 | HTRA1 | c.856T>A (p.Phe286Ile) c.538T>A (p.Phe180Ile) c.79T>A (p.Phe27Ile) | |
10 | g.122506769T>C | CA378585537 | HTRA1 | c.856T>C (p.Phe286Leu) c.538T>C (p.Phe180Leu) c.79T>C (p.Phe27Leu) | |
10 | g.122506769T>G | CA378585536 | HTRA1 | c.856T>G (p.Phe286Val) c.538T>G (p.Phe180Val) c.79T>G (p.Phe27Val) | |
10 | g.122506770T>A | CA378585539 | HTRA1 | c.857T>A (p.Phe286Tyr) c.539T>A (p.Phe180Tyr) c.80T>A (p.Phe27Tyr) | |
10 | g.122506770T>C | CA378585540 | HTRA1 | c.857T>C (p.Phe286Ser) c.539T>C (p.Phe180Ser) c.80T>C (p.Phe27Ser) | ClinVar |
10 | g.122506770T>G | CA378585541 | HTRA1 | c.857T>G (p.Phe286Cys) c.539T>G (p.Phe180Cys) c.80T>G (p.Phe27Cys) | |
10 | g.122506771T>A | CA378585543 | HTRA1 | c.858T>A (p.Phe286Leu) c.540T>A (p.Phe180Leu) c.81T>A (p.Phe27Leu) | |
10 | g.122506771T>C | CA471666813 | HTRA1 | c.858T>C (p.Phe286=) c.540T>C (p.Phe180=) c.81T>C (p.Phe27=) | |
10 | g.122506771T>G | CA378585544 | HTRA1 | c.858T>G (p.Phe286Leu) c.540T>G (p.Phe180Leu) c.81T>G (p.Phe27Leu) | |
10 | g.122506772T>A | CA378585546 | HTRA1 | c.859T>A (p.Ser287Thr) c.541T>A (p.Ser181Thr) c.82T>A (p.Ser28Thr) | |
10 | g.122506772T>C | CA378585547 | HTRA1 | c.859T>C (p.Ser287Pro) c.541T>C (p.Ser181Pro) c.82T>C (p.Ser28Pro) | ClinVar |
10 | g.122506772T>G | CA378585549 | HTRA1 | c.859T>G (p.Ser287Ala) c.541T>G (p.Ser181Ala) c.82T>G (p.Ser28Ala) | |
10 | g.122506773C>A | CA378585550 | HTRA1 | c.860C>A (p.Ser287Tyr) c.542C>A (p.Ser181Tyr) c.83C>A (p.Ser28Tyr) | |
10 | g.122506773C>G | CA378585551 | HTRA1 | c.860C>G (p.Ser287Cys) c.542C>G (p.Ser181Cys) c.83C>G (p.Ser28Cys) | |
10 | g.122506773C>T | CA378585554 | HTRA1 | c.860C>T (p.Ser287Phe) c.542C>T (p.Ser181Phe) c.83C>T (p.Ser28Phe) | |
10 | g.122506773_122506774delinsTT | CA645568693 | HTRA1 | c.860_861delinsTT (p.Ser287Phe) c.542_543delinsTT (p.Ser181Phe) c.83_84delinsTT (p.Ser28Phe) | COSMIC |
10 | g.122506774C>A | CA471666819 | HTRA1 | c.861C>A (p.Ser287=) c.543C>A (p.Ser181=) c.84C>A (p.Ser28=) | |
10 | g.122506774C>G | CA471666820 | HTRA1 | c.861C>G (p.Ser287=) c.543C>G (p.Ser181=) c.84C>G (p.Ser28=) | |
10 | g.122506774C>T | CA471666822 | HTRA1 | c.861C>T (p.Ser287=) c.543C>T (p.Ser181=) c.84C>T (p.Ser28=) | |
10 | g.122506775C>A | CA378585555 | HTRA1 | c.862C>A (p.Leu288Ile) c.544C>A (p.Leu182Ile) c.85C>A (p.Leu29Ile) | |
10 | g.122506775C>G | CA378585559 | HTRA1 | c.862C>G (p.Leu288Val) c.544C>G (p.Leu182Val) c.85C>G (p.Leu29Val) | |
10 | g.122506775C>T | CA378585557 | HTRA1 | c.862C>T (p.Leu288Phe) c.544C>T (p.Leu182Phe) c.85C>T (p.Leu29Phe) | |
10 | g.122506776T>A | CA378585561 | HTRA1 | c.863T>A (p.Leu288His) c.545T>A (p.Leu182His) c.86T>A (p.Leu29His) | |
10 | g.122506776T>C | CA378585563 | HTRA1 | c.863T>C (p.Leu288Pro) c.545T>C (p.Leu182Pro) c.86T>C (p.Leu29Pro) | |
10 | g.122506776T>G | CA378585565 | HTRA1 | c.863T>G (p.Leu288Arg) c.545T>G (p.Leu182Arg) c.86T>G (p.Leu29Arg) |