UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |