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 |
|---|---|---|---|---|---|
| 19 | g.43552260C>A | CA406205490 | XRCC1 | c.839G>T (p.Arg280Leu) c.746G>T (p.Arg249Leu) n.960G>T c.449G>T c.860G>T (p.Arg287Leu) n.519G>T | dbSNP |
| 19 | g.43552260C= | CA2337551630 | XRCC1 | c.839G= (p.Arg280=) c.746G= (p.Arg249=) n.960G= c.449G= c.860G= (p.Arg287=) n.519G= | |
| 19 | g.43552260C>G | CA9488648 | XRCC1 | c.839G>C (p.Arg280Pro) c.746G>C (p.Arg249Pro) n.960G>C c.449G>C c.860G>C (p.Arg287Pro) n.519G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43552260C>T | CA9488647 | XRCC1 | c.839G>A (p.Arg280His) c.746G>A (p.Arg249His) n.960G>A c.449G>A c.860G>A (p.Arg287His) n.519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.43552261G>A | CA9488649 | XRCC1 | c.838C>T (p.Arg280Cys) c.745C>T (p.Arg249Cys) n.959C>T c.448C>T c.859C>T (p.Arg287Cys) n.518C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43552261G>C | CA406205502 | XRCC1 | c.838C>G (p.Arg280Gly) c.745C>G (p.Arg249Gly) n.959C>G c.448C>G c.859C>G (p.Arg287Gly) n.518C>G | |
| 19 | g.43552261G= | CA2337551631 | XRCC1 | c.838C= (p.Arg280=) c.745C= (p.Arg249=) n.959C= c.448C= c.859C= (p.Arg287=) n.518C= | |
| 19 | g.43552261G>T | CA406205503 | XRCC1 | c.838C>A (p.Arg280Ser) c.745C>A (p.Arg249Ser) n.959C>A c.448C>A c.859C>A (p.Arg287Ser) n.518C>A | |
| 19 | g.43552262A= | CA2337551632 | XRCC1 | c.837T= (p.Thr279=) c.744T= (p.Thr248=) n.958T= c.447T= c.858T= (p.Thr286=) n.517T= | |
| 19 | g.43552262A>C | CA507741268 | XRCC1 | c.837T>G (p.Thr279=) c.744T>G (p.Thr248=) n.958T>G c.447T>G c.858T>G (p.Thr286=) n.517T>G | |
| 19 | g.43552262A>G | CA507741266 | XRCC1 | c.837T>C (p.Thr279=) c.744T>C (p.Thr248=) n.958T>C c.447T>C c.858T>C (p.Thr286=) n.517T>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43552262A>T | CA507741267 | XRCC1 | c.837T>A (p.Thr279=) c.744T>A (p.Thr248=) n.958T>A c.447T>A c.858T>A (p.Thr286=) n.517T>A | |
| 19 | g.43552263G>A | CA406205504 | XRCC1 | c.836C>T (p.Thr279Ile) c.743C>T (p.Thr248Ile) n.957C>T c.446C>T c.857C>T (p.Thr286Ile) n.516C>T | |
| 19 | g.43552263G>C | CA406205505 | XRCC1 | c.836C>G (p.Thr279Ser) c.743C>G (p.Thr248Ser) n.957C>G c.446C>G c.857C>G (p.Thr286Ser) n.516C>G | |
| 19 | g.43552263G= | CA2337551633 | XRCC1 | c.836C= (p.Thr279=) c.743C= (p.Thr248=) n.957C= c.446C= c.857C= (p.Thr286=) n.516C= | |
| 19 | g.43552263G>T | CA406205508 | XRCC1 | c.836C>A (p.Thr279Asn) c.743C>A (p.Thr248Asn) n.957C>A c.446C>A c.857C>A (p.Thr286Asn) n.516C>A | dbSNP gnomAD v4 |
| 19 | g.43552264T>A | CA406205514 | XRCC1 | c.835A>T (p.Thr279Ser) c.742A>T (p.Thr248Ser) n.956A>T c.445A>T c.856A>T (p.Thr286Ser) n.515A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43552264T>C | CA406205520 | XRCC1 | c.835A>G (p.Thr279Ala) c.742A>G (p.Thr248Ala) n.956A>G c.445A>G c.856A>G (p.Thr286Ala) n.515A>G | gnomAD v4 |
| 19 | g.43552264T>G | CA406205523 | XRCC1 | c.835A>C (p.Thr279Pro) c.742A>C (p.Thr248Pro) n.956A>C c.445A>C c.856A>C (p.Thr286Pro) n.515A>C | |
| 19 | g.43552264T= | CA2337551634 | XRCC1 | c.835A= (p.Thr279=) c.742A= (p.Thr248=) n.956A= c.445A= c.856A= (p.Thr286=) n.515A= | |
| 19 | g.43552265T>A | CA507741269 | XRCC1 | c.834A>T (p.Pro278=) c.741A>T (p.Pro247=) n.955A>T c.444A>T c.855A>T (p.Pro285=) n.514A>T | |
| 19 | g.43552265T>C | CA507741271 | XRCC1 | c.834A>G (p.Pro278=) c.741A>G (p.Pro247=) n.955A>G c.444A>G c.855A>G (p.Pro285=) n.514A>G | |
| 19 | g.43552265T>G | CA507741272 | XRCC1 | c.834A>C (p.Pro278=) c.741A>C (p.Pro247=) n.955A>C c.444A>C c.855A>C (p.Pro285=) n.514A>C | |
| 19 | g.43552266G>A | CA406205527 | XRCC1 | c.833C>T (p.Pro278Leu) c.740C>T (p.Pro247Leu) n.954C>T c.443C>T c.854C>T (p.Pro285Leu) n.513C>T | |
| 19 | g.43552266G>C | CA406205529 | XRCC1 | c.833C>G (p.Pro278Arg) c.740C>G (p.Pro247Arg) n.954C>G c.443C>G c.854C>G (p.Pro285Arg) n.513C>G | |
| 19 | g.43552266G>T | CA406205531 | XRCC1 | c.833C>A (p.Pro278Gln) c.740C>A (p.Pro247Gln) n.954C>A c.443C>A c.854C>A (p.Pro285Gln) n.513C>A | gnomAD v4 |
| 19 | g.43552267G>A | CA9488650 | XRCC1 | c.832C>T (p.Pro278Ser) c.739C>T (p.Pro247Ser) n.953C>T c.442C>T c.853C>T (p.Pro285Ser) n.512C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.43552267G>C | CA406205538 | XRCC1 | c.832C>G (p.Pro278Ala) c.739C>G (p.Pro247Ala) n.953C>G c.442C>G c.853C>G (p.Pro285Ala) n.512C>G | gnomAD v4 |
| 19 | g.43552267G= | CA2337551635 | XRCC1 | c.832C= (p.Pro278=) c.739C= (p.Pro247=) n.953C= c.442C= c.853C= (p.Pro285=) n.512C= | |
| 19 | g.43552267G>T | CA406205535 | XRCC1 | c.832C>A (p.Pro278Thr) c.739C>A (p.Pro247Thr) n.953C>A c.442C>A c.853C>A (p.Pro285Thr) n.512C>A | |
| 19 | g.43552268A>C | CA507741275 | XRCC1 | c.831T>G (p.Ala277=) c.738T>G (p.Ala246=) n.952T>G c.441T>G c.852T>G (p.Ala284=) n.511T>G | |
| 19 | g.43552268A>G | CA507741274 | XRCC1 | c.831T>C (p.Ala277=) c.738T>C (p.Ala246=) n.952T>C c.441T>C c.852T>C (p.Ala284=) n.511T>C | |
| 19 | g.43552268A>T | CA507741276 | XRCC1 | c.831T>A (p.Ala277=) c.738T>A (p.Ala246=) n.952T>A c.441T>A c.852T>A (p.Ala284=) n.511T>A | |
| 19 | g.43552269G>A | CA406205552 | XRCC1 | c.830C>T (p.Ala277Val) c.737C>T (p.Ala246Val) n.951C>T c.440C>T c.851C>T (p.Ala284Val) n.510C>T | |
| 19 | g.43552269G>C | CA406205556 | XRCC1 | c.830C>G (p.Ala277Gly) c.737C>G (p.Ala246Gly) n.951C>G c.440C>G c.851C>G (p.Ala284Gly) n.510C>G | |
| 19 | g.43552269G>T | CA406205554 | XRCC1 | c.830C>A (p.Ala277Asp) c.737C>A (p.Ala246Asp) n.951C>A c.440C>A c.851C>A (p.Ala284Asp) n.510C>A | gnomAD v4 |
| 19 | g.43552270C>A | CA406205560 | XRCC1 | c.829G>T (p.Ala277Ser) c.736G>T (p.Ala246Ser) n.950G>T c.439G>T c.850G>T (p.Ala284Ser) n.509G>T | gnomAD v4 |
| 19 | g.43552270C= | CA2337551636 | XRCC1 | c.829G= (p.Ala277=) c.736G= (p.Ala246=) n.950G= c.439G= c.850G= (p.Ala284=) n.509G= | |
| 19 | g.43552270C>G | CA308774239 | XRCC1 | c.829G>C (p.Ala277Pro) c.736G>C (p.Ala246Pro) n.950G>C c.439G>C c.850G>C (p.Ala284Pro) n.509G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43552270C>T | CA406205570 | XRCC1 | c.829G>A (p.Ala277Thr) c.736G>A (p.Ala246Thr) n.950G>A c.439G>A c.850G>A (p.Ala284Thr) n.509G>A | dbSNP gnomAD v4 |
| 19 | g.43552271T>A | CA507741277 | XRCC1 | c.828A>T (p.Pro276=) c.735A>T (p.Pro245=) n.949A>T c.438A>T c.849A>T (p.Pro283=) n.508A>T | |
| 19 | g.43552271T>C | CA507741278 | XRCC1 | c.828A>G (p.Pro276=) c.735A>G (p.Pro245=) n.949A>G c.438A>G c.849A>G (p.Pro283=) n.508A>G | |
| 19 | g.43552271T>G | CA507741279 | XRCC1 | c.828A>C (p.Pro276=) c.735A>C (p.Pro245=) n.949A>C c.438A>C c.849A>C (p.Pro283=) n.508A>C | |
| 19 | g.43552272G>A | CA406205573 | XRCC1 | c.827C>T (p.Pro276Leu) c.734C>T (p.Pro245Leu) n.948C>T c.437C>T c.848C>T (p.Pro283Leu) n.507C>T | |
| 19 | g.43552272G>C | CA406205576 | XRCC1 | c.827C>G (p.Pro276Arg) c.734C>G (p.Pro245Arg) n.948C>G c.437C>G c.848C>G (p.Pro283Arg) n.507C>G | |
| 19 | g.43552272G>T | CA406205577 | XRCC1 | c.827C>A (p.Pro276Gln) c.734C>A (p.Pro245Gln) n.948C>A c.437C>A c.848C>A (p.Pro283Gln) n.507C>A | |
| 19 | g.43552273G>A | CA406205578 | XRCC1 | c.826C>T (p.Pro276Ser) c.733C>T (p.Pro245Ser) n.947C>T c.436C>T c.847C>T (p.Pro283Ser) n.506C>T | |
| 19 | g.43552273G>C | CA406205581 | XRCC1 | c.826C>G (p.Pro276Ala) c.733C>G (p.Pro245Ala) n.947C>G c.436C>G c.847C>G (p.Pro283Ala) n.506C>G | gnomAD v4 |
| 19 | g.43552273G>T | CA406205583 | XRCC1 | c.826C>A (p.Pro276Thr) c.733C>A (p.Pro245Thr) n.947C>A c.436C>A c.847C>A (p.Pro283Thr) n.506C>A | gnomAD v4 |
| 19 | g.43552274C>A | CA406205593 | XRCC1 | c.825G>T (p.Leu275Phe) c.732G>T (p.Leu244Phe) n.946G>T c.435G>T c.846G>T (p.Leu282Phe) n.505G>T | gnomAD v4 |