WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
| 13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356559_32356560del | CA025157 | BRCA2 | c.7567_7568del (p.Leu2523GlufsTer15) c.7198_7199del (p.Leu2400GlufsTer15) c.34_35del (p.Leu12GlufsTer15) c.132_133del n.7567_7568del c.7471_7472del (p.Leu2491GlufsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356557_32356560del | CA10589439 | BRCA2 | c.7565_7568del (p.Ser2522Ter) c.7196_7199del (p.Ser2399Ter) c.32_35del (p.Ser11Ter) c.130_133del n.7565_7568del c.7469_7472del (p.Ser2490Ter) | ClinVar dbSNP |
| 13 | g.32356559C>A | CA387743767 | BRCA2 | c.7567C>A (p.Leu2523Met) c.7198C>A (p.Leu2400Met) c.34C>A (p.Leu12Met) c.132C>A n.7567C>A c.7471C>A (p.Leu2491Met) | |
| 13 | g.32356559C= | CA2082815244 | BRCA2 | c.7567C= (p.Leu2523=) c.7198C= (p.Leu2400=) c.34C= (p.Leu12=) c.132C= n.7567C= c.7471C= (p.Leu2491=) | |
| 13 | g.32356559C>G | CA387743765 | BRCA2 | c.7567C>G (p.Leu2523Val) c.7198C>G (p.Leu2400Val) c.34C>G (p.Leu12Val) c.132C>G n.7567C>G c.7471C>G (p.Leu2491Val) | dbSNP |
| 13 | g.32356559C>T | CA483260429 | BRCA2 | c.7567C>T (p.Leu2523=) c.7198C>T (p.Leu2400=) c.34C>T (p.Leu12=) c.132C>T n.7567C>T c.7471C>T (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356560T>A | CA387743769 | BRCA2 | c.7568T>A (p.Leu2523Gln) c.7199T>A (p.Leu2400Gln) c.35T>A (p.Leu12Gln) c.133T>A n.7568T>A c.7472T>A (p.Leu2491Gln) | dbSNP |
| 13 | g.32356560T>C | CA16619765 | BRCA2 | c.7568T>C (p.Leu2523Pro) c.7199T>C (p.Leu2400Pro) c.35T>C (p.Leu12Pro) c.133T>C n.7568T>C c.7472T>C (p.Leu2491Pro) | ClinVar dbSNP |
| 13 | g.32356560T>G | CA387743772 | BRCA2 | c.7568T>G (p.Leu2523Arg) c.7199T>G (p.Leu2400Arg) c.35T>G (p.Leu12Arg) c.133T>G n.7568T>G c.7472T>G (p.Leu2491Arg) | |
| 13 | g.32356560T= | CA2082815254 | BRCA2 | c.7568T= (p.Leu2523=) c.7199T= (p.Leu2400=) c.35T= (p.Leu12=) c.133T= n.7568T= c.7472T= (p.Leu2491=) | |
| 13 | g.32356560dup | CA913189209 | BRCA2 | c.7568dup (p.Lys2524GlufsTer15) c.7199dup (p.Lys2401GlufsTer15) c.35dup (p.Lys13GlufsTer15) c.133dup n.7568dup c.7472dup (p.Lys2492GlufsTer15) | ClinVar dbSNP |
| 13 | g.32356561G>A | CA025158 | BRCA2 | c.7569G>A (p.Leu2523=) c.7200G>A (p.Leu2400=) c.36G>A (p.Leu12=) c.134G>A n.7569G>A c.7473G>A (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356561G>C | CA483260430 | BRCA2 | c.7569G>C (p.Leu2523=) c.7200G>C (p.Leu2400=) c.36G>C (p.Leu12=) c.134G>C n.7569G>C c.7473G>C (p.Leu2491=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356561G= | CA2082815264 | BRCA2 | c.7569G= (p.Leu2523=) c.7200G= (p.Leu2400=) c.36G= (p.Leu12=) c.134G= n.7569G= c.7473G= (p.Leu2491=) | |
| 13 | g.32356561G>T | CA483260431 | BRCA2 | c.7569G>T (p.Leu2523=) c.7200G>T (p.Leu2400=) c.36G>T (p.Leu12=) c.134G>T n.7569G>T c.7473G>T (p.Leu2491=) | |
| 13 | g.32356562A= | CA2082815277 | BRCA2 | c.7570A= (p.Lys2524=) c.7201A= (p.Lys2401=) c.37A= (p.Lys13=) c.135A= n.7570A= c.7474A= (p.Lys2492=) | |
| 13 | g.32356562A>C | CA387743781 | BRCA2 | c.7570A>C (p.Lys2524Gln) c.7201A>C (p.Lys2401Gln) c.37A>C (p.Lys13Gln) c.135A>C n.7570A>C c.7474A>C (p.Lys2492Gln) | |
| 13 | g.32356562A>G | CA387743776 | BRCA2 | c.7570A>G (p.Lys2524Glu) c.7201A>G (p.Lys2401Glu) c.37A>G (p.Lys13Glu) c.135A>G n.7570A>G c.7474A>G (p.Lys2492Glu) | ClinVar dbSNP |
| 13 | g.32356562A>T | CA387743779 | BRCA2 | c.7570A>T (p.Lys2524Ter) c.7201A>T (p.Lys2401Ter) c.37A>T (p.Lys13Ter) c.135A>T n.7570A>T c.7474A>T (p.Lys2492Ter) | ClinVar dbSNP |
| 13 | g.32356564dup | CA915946871 | BRCA2 | c.7572dup (p.Ala2525SerfsTer14) c.7203dup (p.Ala2402SerfsTer14) c.39dup (p.Ala14SerfsTer14) c.137dup n.7572dup c.7476dup (p.Ala2493SerfsTer14) | ClinVar dbSNP |
| 13 | g.32356563A>C | CA387743783 | BRCA2 | c.7571A>C (p.Lys2524Thr) c.7202A>C (p.Lys2401Thr) c.38A>C (p.Lys13Thr) c.136A>C n.7571A>C c.7475A>C (p.Lys2492Thr) | |
| 13 | g.32356563A>G | CA387743784 | BRCA2 | c.7571A>G (p.Lys2524Arg) c.7202A>G (p.Lys2401Arg) c.38A>G (p.Lys13Arg) c.136A>G n.7571A>G c.7475A>G (p.Lys2492Arg) | COSMIC COSMIC |
| 13 | g.32356563A>T | CA387743787 | BRCA2 | c.7571A>T (p.Lys2524Ile) c.7202A>T (p.Lys2401Ile) c.38A>T (p.Lys13Ile) c.136A>T n.7571A>T c.7475A>T (p.Lys2492Ile) | dbSNP |
| 13 | g.32356564A>C | CA387743790 | BRCA2 | c.7572A>C (p.Lys2524Asn) c.7203A>C (p.Lys2401Asn) c.39A>C (p.Lys13Asn) c.137A>C n.7572A>C c.7476A>C (p.Lys2492Asn) | |
| 13 | g.32356564A>G | CA483260432 | BRCA2 | c.7572A>G (p.Lys2524=) c.7203A>G (p.Lys2401=) c.39A>G (p.Lys13=) c.137A>G n.7572A>G c.7476A>G (p.Lys2492=) | |
| 13 | g.32356564A>T | CA387743792 | BRCA2 | c.7572A>T (p.Lys2524Asn) c.7203A>T (p.Lys2401Asn) c.39A>T (p.Lys13Asn) c.137A>T n.7572A>T c.7476A>T (p.Lys2492Asn) | ClinVar dbSNP |
| 13 | g.32356565G>A | CA025160 | BRCA2 | c.7573G>A (p.Ala2525Thr) c.7204G>A (p.Ala2402Thr) c.40G>A (p.Ala14Thr) c.138G>A n.7573G>A c.7477G>A (p.Ala2493Thr) | ClinVar dbSNP |
| 13 | g.32356565G>C | CA387743799 | BRCA2 | c.7573G>C (p.Ala2525Pro) c.7204G>C (p.Ala2402Pro) c.40G>C (p.Ala14Pro) c.138G>C n.7573G>C c.7477G>C (p.Ala2493Pro) | ClinVar dbSNP |
| 13 | g.32356565G= | CA2082815291 | BRCA2 | c.7573G= (p.Ala2525=) c.7204G= (p.Ala2402=) c.40G= (p.Ala14=) c.138G= n.7573G= c.7477G= (p.Ala2493=) | |
| 13 | g.32356565G>T | CA387743796 | BRCA2 | c.7573G>T (p.Ala2525Ser) c.7204G>T (p.Ala2402Ser) c.40G>T (p.Ala14Ser) c.138G>T n.7573G>T c.7477G>T (p.Ala2493Ser) | |
| 13 | g.32356565_32356566del | CA2499222296 | BRCA2 | c.7573_7574del (p.Ala2525SerfsTer13) c.7204_7205del (p.Ala2402SerfsTer13) c.40_41del (p.Ala14SerfsTer13) c.138_139del n.7573_7574del c.7477_7478del (p.Ala2493SerfsTer13) | |
| 13 | g.32356566C>A | CA387743801 | BRCA2 | c.7574C>A (p.Ala2525Glu) c.7205C>A (p.Ala2402Glu) c.41C>A (p.Ala14Glu) c.139C>A n.7574C>A c.7478C>A (p.Ala2493Glu) | |
| 13 | g.32356566C>G | CA387743802 | BRCA2 | c.7574C>G (p.Ala2525Gly) c.7205C>G (p.Ala2402Gly) c.41C>G (p.Ala14Gly) c.139C>G n.7574C>G c.7478C>G (p.Ala2493Gly) | |
| 13 | g.32356566C>T | CA387743804 | BRCA2 | c.7574C>T (p.Ala2525Val) c.7205C>T (p.Ala2402Val) c.41C>T (p.Ala14Val) c.139C>T n.7574C>T c.7478C>T (p.Ala2493Val) | |
| 13 | g.32356566_32356567delinsCA | CA2082815294 | BRCA2 | c.7574_7575delinsCA (p.Ala2525=) c.7205_7206delinsCA (p.Ala2402=) c.41_42delinsCA (p.Ala14=) c.139_140delinsCA n.7574_7575delinsCA c.7478_7479delinsCA (p.Ala2493=) | |
| 13 | g.32356567del | CA10576071 | BRCA2 | c.7575del (p.Ala2526GlnfsTer2) c.7206del (p.Ala2403GlnfsTer2) c.42del (p.Ala15GlnfsTer2) c.140del n.7575del c.7479del (p.Ala2494GlnfsTer2) | ClinVar dbSNP |
| 13 | g.32356567A>C | CA483260435 | BRCA2 | c.7575A>C (p.Ala2525=) c.7206A>C (p.Ala2402=) c.42A>C (p.Ala14=) c.140A>C n.7575A>C c.7479A>C (p.Ala2493=) | |
| 13 | g.32356567A>G | CA483260434 | BRCA2 | c.7575A>G (p.Ala2525=) c.7206A>G (p.Ala2402=) c.42A>G (p.Ala14=) c.140A>G n.7575A>G c.7479A>G (p.Ala2493=) | |
| 13 | g.32356567A>T | CA483260433 | BRCA2 | c.7575A>T (p.Ala2525=) c.7206A>T (p.Ala2402=) c.42A>T (p.Ala14=) c.140A>T n.7575A>T c.7479A>T (p.Ala2493=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356568G>A | CA387743810 | BRCA2 | c.7576G>A (p.Ala2526Thr) c.7207G>A (p.Ala2403Thr) c.43G>A (p.Ala15Thr) c.141G>A n.7576G>A c.7480G>A (p.Ala2494Thr) | ClinVar dbSNP |
| 13 | g.32356568G>C | CA387743812 | BRCA2 | c.7576G>C (p.Ala2526Pro) c.7207G>C (p.Ala2403Pro) c.43G>C (p.Ala15Pro) c.141G>C n.7576G>C c.7480G>C (p.Ala2494Pro) | dbSNP |
| 13 | g.32356568G= | CA2082815304 | BRCA2 | c.7576G= (p.Ala2526=) c.7207G= (p.Ala2403=) c.43G= (p.Ala15=) c.141G= n.7576G= c.7480G= (p.Ala2494=) | |
| 13 | g.32356568G>T | CA387743814 | BRCA2 | c.7576G>T (p.Ala2526Ser) c.7207G>T (p.Ala2403Ser) c.43G>T (p.Ala15Ser) c.141G>T n.7576G>T c.7480G>T (p.Ala2494Ser) | |
| 13 | g.32356569C>A | CA387743815 | BRCA2 | c.7577C>A (p.Ala2526Glu) c.7208C>A (p.Ala2403Glu) c.44C>A (p.Ala15Glu) c.142C>A n.7577C>A c.7481C>A (p.Ala2494Glu) | dbSNP |
| 13 | g.32356569C= | CA2082815312 | BRCA2 | c.7577C= (p.Ala2526=) c.7208C= (p.Ala2403=) c.44C= (p.Ala15=) c.142C= n.7577C= c.7481C= (p.Ala2494=) | |
| 13 | g.32356569C>G | CA387743818 | BRCA2 | c.7577C>G (p.Ala2526Gly) c.7208C>G (p.Ala2403Gly) c.44C>G (p.Ala15Gly) c.142C>G n.7577C>G c.7481C>G (p.Ala2494Gly) | ClinVar dbSNP |
| 13 | g.32356569C>T | CA387743820 | BRCA2 | c.7577C>T (p.Ala2526Val) c.7208C>T (p.Ala2403Val) c.44C>T (p.Ala15Val) c.142C>T n.7577C>T c.7481C>T (p.Ala2494Val) | ClinVar dbSNP |
| 13 | g.32356569_32356571delinsCAG | CA2082815314 | BRCA2 | c.7577_7579delinsCAG (p.Ala2526=) c.7208_7210delinsCAG (p.Ala2403=) c.44_46delinsCAG (p.Ala15=) c.142_144delinsCAG n.7577_7579delinsCAG c.7481_7483delinsCAG (p.Ala2494=) |