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 |
|---|---|---|---|---|---|
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149785_10149792del | CA645525026 | VHL | c.*141-2_*146del c.600-2_605del c.575-2_580del c.464-2_469del c.341-2_346del n.600-2_605del c.*18-2_*23del | COSMIC |
| 3 | g.10149786_10149792del | CA645525023 | VHL | c.*141-1_*146del c.600-1_605del c.575-1_580del c.464-1_469del c.341-1_346del n.600-1_605del c.*18-1_*23del | COSMIC |
| 3 | g.10149787_10149801del | CA645525022 | VHL | c.*141_*155del c.600_614del c.575_589del c.464_478del c.341_355del n.600_614del c.*18_*32del | COSMIC |
| 3 | g.10149787_10149803del | CA2580068476 | VHL | c.*141_*157del c.600_616del c.575_591del c.464_480del c.341_357del n.600_616del c.*18_*34del | ClinVar |
| 3 | g.10149786_10149794del | CA645525027 | VHL | c.*141-1_*148del c.600-1_607del c.575-1_582del c.464-1_471del c.341-1_348del n.600-1_607del c.*18-1_*25del | COSMIC |
| 3 | g.10149787_10149797del | CA645525029 | VHL | c.*141_*151del c.600_610del c.575_585del c.464_474del c.341_351del n.600_610del c.*18_*28del | COSMIC |
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149788_10149793del | CA16621939 | VHL | c.*142_*147del (n.*142_*147del) c.601_606del (n.601_606del) c.576_581del (p.Tyr193_Thr194del) c.465_470del (p.Tyr156_Thr157del) c.342_347del (p.Tyr115_Thr116del) n.601_606del c.*19_*24del (n.*19_*24del) | |
| 3 | g.10149791_10149792dup | CA645525034 | VHL | c.*145_*146dup (n.*145_*146dup) c.604_605dup (n.604_605dup) c.579_580dup (p.Thr194IlefsTer3) c.468_469dup (p.Thr157IlefsTer3) c.345_346dup (p.Thr116IlefsTer3) n.604_605dup c.*22_*23dup (n.*22_*23dup) | COSMIC |
| 3 | g.10149791_10149792del | CA645525033 | VHL | c.*145_*146del (n.*145_*146del) c.604_605del (n.604_605del) c.579_580del (p.Thr194SerfsTer16) c.468_469del (p.Thr157SerfsTer16) c.345_346del (p.Thr116SerfsTer16) n.604_605del c.*22_*23del (n.*22_*23del) | COSMIC COSMIC |
| 3 | g.10149791_10149799del | CA645525035 | VHL | c.*145_*153del (n.*145_*153del) c.604_612del (n.604_612del) c.579_587del (p.Tyr193Ter) c.468_476del (p.Tyr156Ter) c.345_353del (p.Tyr115Ter) n.604_612del c.*22_*30del (n.*22_*30del) | COSMIC |
| 3 | g.10149791_10149794del | CA645525037 | VHL | c.*145_*148del (n.*145_*148del) c.604_607del (n.604_607del) c.579_582del (p.Thr194Ter) c.468_471del (p.Thr157Ter) c.345_348del (p.Thr116Ter) n.604_607del c.*22_*25del (n.*22_*25del) | COSMIC |
| 3 | g.10149792del | CA432423066 | VHL | c.*146del (n.*146del) c.605del (n.605del) c.580del (p.Thr194LeufsTer2) c.469del (p.Thr157LeufsTer2) c.346del (p.Thr116LeufsTer2) n.605del c.*23del (n.*23del) | COSMIC |
| 3 | g.10149792A= | CA1345062141 | VHL | c.*146A= (n.*146A=) c.605A= (n.605A=) c.580A= (p.Thr194=) c.469A= (p.Thr157=) c.346A= (p.Thr116=) n.605A= c.*23A= (n.*23A=) | |
| 3 | g.10149792A>C | CA351756055 | VHL | c.*146A>C (n.*146A>C) c.605A>C (n.605A>C) c.580A>C (p.Thr194Pro) c.469A>C (p.Thr157Pro) c.346A>C (p.Thr116Pro) n.605A>C c.*23A>C (n.*23A>C) | dbSNP |
| 3 | g.10149792A>G | CA351756056 | VHL | c.*146A>G (n.*146A>G) c.605A>G (n.605A>G) c.580A>G (p.Thr194Ala) c.469A>G (p.Thr157Ala) c.346A>G (p.Thr116Ala) n.605A>G c.*23A>G (n.*23A>G) | dbSNP |
| 3 | g.10149792A>T | CA351756058 | VHL | c.*146A>T (n.*146A>T) c.605A>T (n.605A>T) c.580A>T (p.Thr194Ser) c.469A>T (p.Thr157Ser) c.346A>T (p.Thr116Ser) n.605A>T c.*23A>T (n.*23A>T) | dbSNP |
| 3 | g.10149792dup | CA432423070 | VHL | c.*146dup (n.*146dup) c.605dup (n.605dup) c.580dup (p.Thr194AsnfsTer17) c.469dup (p.Thr157AsnfsTer17) c.346dup (p.Thr116AsnfsTer17) n.605dup c.*23dup (n.*23dup) | |
| 3 | g.10149792_10149800del | CA645525038 | VHL | c.*146_*154del (n.*146_*154del) c.605_613del (n.605_613del) c.580_588del (p.Thr194_Lys196del) c.469_477del (p.Thr157_Lys159del) c.346_354del (p.Thr116_Lys118del) n.605_613del c.*23_*31del (n.*23_*31del) | COSMIC |
| 3 | g.10149792_10149800delinsT | CA645525040 | VHL | c.*146_*154delinsT (n.*146_*154delinsT) c.605_613delinsT (n.605_613delinsT) c.580_588delinsT (p.Thr194Ter) c.469_477delinsT (p.Thr157Ter) c.346_354delinsT (p.Thr116Ter) n.605_613delinsT c.*23_*31delinsT (n.*23_*31delinsT) | COSMIC |
| 3 | g.10149793_10149800del | CA645525039 | VHL | c.*147_*154del (n.*147_*154del) c.606_613del (n.606_613del) c.581_588del (p.Thr194ArgfsTer14) c.470_477del (p.Thr157ArgfsTer14) c.347_354del (p.Thr116ArgfsTer14) n.606_613del c.*24_*31del (n.*24_*31del) | COSMIC |
| 3 | g.10149793C>A | CA351756061 | VHL | c.*147C>A (n.*147C>A) c.606C>A (n.606C>A) c.581C>A (p.Thr194Asn) c.470C>A (p.Thr157Asn) c.347C>A (p.Thr116Asn) n.606C>A c.*24C>A (n.*24C>A) | dbSNP |
| 3 | g.10149793C= | CA1345062145 | VHL | c.*147C= (n.*147C=) c.606C= (n.606C=) c.581C= (p.Thr194=) c.470C= (p.Thr157=) c.347C= (p.Thr116=) n.606C= c.*24C= (n.*24C=) | |
| 3 | g.10149793C>G | CA351756065 | VHL | c.*147C>G (n.*147C>G) c.606C>G (n.606C>G) c.581C>G (p.Thr194Ser) c.470C>G (p.Thr157Ser) c.347C>G (p.Thr116Ser) n.606C>G c.*24C>G (n.*24C>G) | dbSNP gnomAD v4 |
| 3 | g.10149793C>T | CA357133 | VHL | c.*147C>T (n.*147C>T) c.606C>T (n.606C>T) c.581C>T (p.Thr194Ile) c.470C>T (p.Thr157Ile) c.347C>T (p.Thr116Ile) n.606C>T c.*24C>T (n.*24C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149795_10149796del | CA645525042 | VHL | c.*149_*150del (n.*149_*150del) c.608_609del (n.608_609del) c.583_584del (p.Leu195GlufsTer15) c.472_473del (p.Leu158GlufsTer15) c.349_350del (p.Leu117GlufsTer15) n.608_609del c.*26_*27del (n.*26_*27del) | COSMIC |
| 3 | g.10149793_10149799delinsT | CA645525041 | VHL | c.*147_*153delinsT (n.*147_*153delinsT) c.606_612delinsT (n.606_612delinsT) c.581_587delinsT (p.Thr194_Lys196delinsIle) c.470_476delinsT (p.Thr157_Lys159delinsIle) c.347_353delinsT (p.Thr116_Lys118delinsIle) n.606_612delinsT c.*24_*30delinsT (n.*24_*30delinsT) | COSMIC |
| 3 | g.10149793_10149794insA | CA645525043 | VHL | c.*147_*148insA (n.*147_*148insA) c.606_607insA (n.606_607insA) c.581_582insA (p.Leu195SerfsTer16) c.470_471insA (p.Leu158SerfsTer16) c.347_348insA (p.Leu117SerfsTer16) n.606_607insA c.*24_*25insA (n.*24_*25insA) | COSMIC |
| 3 | g.10149794del | CA432423082 | VHL | c.*148del (n.*148del) c.607del (n.607del) c.582del (p.Leu195Ter) c.471del (p.Leu158Ter) c.348del (p.Leu117Ter) n.607del c.*25del (n.*25del) | COSMIC |
| 3 | g.10149794T>A | CA432423078 | VHL | c.*148T>A (n.*148T>A) c.607T>A (n.607T>A) c.582T>A (p.Thr194=) c.471T>A (p.Thr157=) c.348T>A (p.Thr116=) n.607T>A c.*25T>A (n.*25T>A) | dbSNP COSMIC |
| 3 | g.10149794T>C | CA432423079 | VHL | c.*148T>C (n.*148T>C) c.607T>C (n.607T>C) c.582T>C (p.Thr194=) c.471T>C (p.Thr157=) c.348T>C (p.Thr116=) n.607T>C c.*25T>C (n.*25T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149794T>G | CA432423080 | VHL | c.*148T>G (n.*148T>G) c.607T>G (n.607T>G) c.582T>G (p.Thr194=) c.471T>G (p.Thr157=) c.348T>G (p.Thr116=) n.607T>G c.*25T>G (n.*25T>G) | |
| 3 | g.10149794T= | CA1345062152 | VHL | c.*148T= (n.*148T=) c.607T= (n.607T=) c.582T= (p.Thr194=) c.471T= (p.Thr157=) c.348T= (p.Thr116=) n.607T= c.*25T= (n.*25T=) | |
| 3 | g.10149794dup | CA357050 | VHL | c.*148dup (n.*148dup) c.607dup (n.607dup) c.582dup (p.Leu195SerfsTer16) c.471dup (p.Leu158SerfsTer16) c.348dup (p.Leu117SerfsTer16) n.607dup c.*25dup (n.*25dup) | ClinVar dbSNP COSMIC |
| 3 | g.10149796_10149821dup | CA645525044 | VHL | c.*150_*175dup (n.*150_*175dup) c.609_634dup (n.609_634dup) c.584_609dup (p.Arg204Ter) c.473_498dup (p.Arg167Ter) c.350_375dup (p.Arg126Ter) n.609_634dup c.*27_*52dup (n.*27_*52dup) | COSMIC |