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.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.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 |
| 3 | g.10149795_10149813del | CA645525046 | VHL | c.*149_*167del (n.*149_*167del) c.608_626del (n.608_626del) c.583_601del (p.Leu195ArgfsTer6) c.472_490del (p.Leu158ArgfsTer6) c.349_367del (p.Leu117ArgfsTer6) n.608_626del c.*26_*44del (n.*26_*44del) | COSMIC |
| 3 | g.10149798_10149816del | CA2586965661 | VHL | c.*152_*170del (n.*152_*170del) c.611_629del (n.611_629del) c.586_604del (p.Lys196LeufsTer5) c.475_493del (p.Lys159LeufsTer5) c.352_370del (p.Lys118LeufsTer5) n.611_629del c.*29_*47del (n.*29_*47del) | |
| 3 | g.10149803_10149806del | CA645525054 | VHL | c.*157_*160del (n.*157_*160del) c.616_619del (n.616_619del) c.591_594del (p.Glu197AspfsTer9) c.480_483del (p.Glu160AspfsTer9) c.357_360del (p.Glu119AspfsTer9) n.616_619del c.*34_*37del (n.*34_*37del) | COSMIC COSMIC |
| 3 | g.10149802_10149807delinsAGCGAT | CA1345062211 | VHL | c.*156_*161delinsAGCGAT (n.*156_*161delinsAGCGAT) c.615_620delinsAGCGAT (n.615_620delinsAGCGAT) c.590_595delinsAGCGAT (p.Glu197=) c.479_484delinsAGCGAT (p.Glu160=) c.356_361delinsAGCGAT (p.Glu119=) n.615_620delinsAGCGAT c.*33_*38delinsAGCGAT (n.*33_*38delinsAGCGAT) | |
| 3 | g.10149805_10149809del | CA16617791 | VHL | c.*159_*163del (n.*159_*163del) c.618_622del (n.618_622del) c.593_597del (p.Arg198ProfsTer11) c.482_486del (p.Arg161ProfsTer11) c.359_363del (p.Arg120ProfsTer11) n.618_622del c.*36_*40del (n.*36_*40del) | ClinVar dbSNP |
| 3 | g.10149804_10149806del | CA645525058 | VHL | c.*158_*160del (n.*158_*160del) c.617_619del (n.617_619del) c.592_594del (p.Arg198del) c.481_483del (p.Arg161del) c.358_360del (p.Arg120del) n.617_619del c.*35_*37del (n.*35_*37del) | COSMIC |
| 3 | g.10149804_10149817dup | CA2573119327 | VHL | c.*158_*171dup (n.*158_*171dup) c.617_630dup (n.617_630dup) c.592_605dup (p.Val203AspfsTer9) c.481_494dup (p.Val166AspfsTer9) c.358_371dup (p.Val125AspfsTer9) n.617_630dup c.*35_*48dup (n.*35_*48dup) | |
| 3 | g.10149806_10149823dup | CA658655759 | VHL | c.*160_*177dup (n.*160_*177dup) c.619_636dup (n.619_636dup) c.594_611dup (p.Arg204_Ser205insCysLeuGlnValValArg) c.483_500dup (p.Arg167_Ser168insCysLeuGlnValValArg) c.360_377dup (p.Arg126_Ser127insCysLeuGlnValValArg) n.619_636dup c.*37_*54dup (n.*37_*54dup) | ClinVar dbSNP |
| 3 | g.10149805_10149806del | CA645525059 | VHL | c.*159_*160del (n.*159_*160del) c.618_619del (n.618_619del) c.593_594del (p.Arg198LeufsTer12) c.482_483del (p.Arg161LeufsTer12) c.359_360del (p.Arg120LeufsTer12) n.618_619del c.*36_*37del (n.*36_*37del) | COSMIC |
| 3 | g.10149805_10149806delinsGA | CA1345062239 | VHL | c.*159_*160delinsGA (n.*159_*160delinsGA) c.618_619delinsGA (n.618_619delinsGA) c.593_594delinsGA (p.Arg198=) c.482_483delinsGA (p.Arg161=) c.359_360delinsGA (p.Arg120=) n.618_619delinsGA c.*36_*37delinsGA (n.*36_*37delinsGA) | |
| 3 | g.10149806_10149808dup | CA2573320436 | VHL | c.*160_*162dup (n.*160_*162dup) c.619_621dup (n.619_621dup) c.594_596dup (p.Cys199Ter) c.483_485dup (p.Cys162Ter) c.360_362dup (p.Cys121Ter) n.619_621dup c.*37_*39dup (n.*37_*39dup) | |
| 3 | g.10149806del | CA658795183 | VHL | c.*160del (n.*160del) c.619del (n.619del) c.594del (p.Cys199AlafsTer8) c.483del (p.Cys162AlafsTer8) c.360del (p.Cys121AlafsTer8) n.619del c.*37del (n.*37del) | ClinVar dbSNP |
| 3 | g.10149806A>C | CA432423155 | VHL | c.*160A>C (n.*160A>C) c.619A>C (n.619A>C) c.594A>C (p.Arg198=) c.483A>C (p.Arg161=) c.360A>C (p.Arg120=) n.619A>C c.*37A>C (n.*37A>C) | dbSNP |
| 3 | g.10149806A>G | CA432423157 | VHL | c.*160A>G (n.*160A>G) c.619A>G (n.619A>G) c.594A>G (p.Arg198=) c.483A>G (p.Arg161=) c.360A>G (p.Arg120=) n.619A>G c.*37A>G (n.*37A>G) | dbSNP |
| 3 | g.10149806A>T | CA432423158 | VHL | c.*160A>T (n.*160A>T) c.619A>T (n.619A>T) c.594A>T (p.Arg198=) c.483A>T (p.Arg161=) c.360A>T (p.Arg120=) n.619A>T c.*37A>T (n.*37A>T) | dbSNP |
| 3 | g.10149806dup | CA645525061 | VHL | c.*160dup (n.*160dup) c.619dup (n.619dup) c.594dup (p.Cys199MetfsTer12) c.483dup (p.Cys162MetfsTer12) c.360dup (p.Cys121MetfsTer12) n.619dup c.*37dup (n.*37dup) | COSMIC |
| 3 | g.10149806_10149807delinsAT | CA1345062246 | VHL | c.*160_*161delinsAT (n.*160_*161delinsAT) c.619_620delinsAT (n.619_620delinsAT) c.594_595delinsAT (p.Arg198=) c.483_484delinsAT (p.Arg161=) c.360_361delinsAT (p.Arg120=) n.619_620delinsAT c.*37_*38delinsAT (n.*37_*38delinsAT) | |
| 3 | g.10149806_10149814del | CA645525060 | VHL | c.*160_*168del (n.*160_*168del) c.619_627del (n.619_627del) c.594_602del (p.Cys199_Gln201del) c.483_491del (p.Cys162_Gln164del) c.360_368del (p.Cys121_Gln123del) n.619_627del c.*37_*45del (n.*37_*45del) | COSMIC |
| 3 | g.10149806_10149807insG | CA432423161 | VHL | c.*160_*161insG (n.*160_*161insG) c.619_620insG (n.619_620insG) c.594_595insG (p.Cys199ValfsTer12) c.483_484insG (p.Cys162ValfsTer12) c.360_361insG (p.Cys121ValfsTer12) n.619_620insG c.*37_*38insG (n.*37_*38insG) | |
| 3 | g.10149807del | CA1345062251 | VHL | c.*161del (n.*161del) c.620del (n.620del) c.595del (p.Cys199AlafsTer8) c.484del (p.Cys162AlafsTer8) c.361del (p.Cys121AlafsTer8) n.620del c.*38del (n.*38del) | ClinVar dbSNP |
| 3 | g.10149807T>A | CA351756120 | VHL | c.*161T>A (n.*161T>A) c.620T>A (n.620T>A) c.595T>A (p.Cys199Ser) c.484T>A (p.Cys162Ser) c.361T>A (p.Cys121Ser) n.620T>A c.*38T>A (n.*38T>A) | dbSNP |
| 3 | g.10149807T>C | CA351756117 | VHL | c.*161T>C (n.*161T>C) c.620T>C (n.620T>C) c.595T>C (p.Cys199Arg) c.484T>C (p.Cys162Arg) c.361T>C (p.Cys121Arg) n.620T>C c.*38T>C (n.*38T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149807T>G | CA351756116 | VHL | c.*161T>G (n.*161T>G) c.620T>G (n.620T>G) c.595T>G (p.Cys199Gly) c.484T>G (p.Cys162Gly) c.361T>G (p.Cys121Gly) n.620T>G c.*38T>G (n.*38T>G) | dbSNP |
| 3 | g.10149807T= | CA1345062249 | VHL | c.*161T= (n.*161T=) c.620T= (n.620T=) c.595T= (p.Cys199=) c.484T= (p.Cys162=) c.361T= (p.Cys121=) n.620T= c.*38T= (n.*38T=) | |
| 3 | g.10149807_10149808insA | CA432423169 | VHL | c.*161_*162insA (n.*161_*162insA) c.620_621insA (n.620_621insA) c.595_596insA (p.Cys199Ter) c.484_485insA (p.Cys162Ter) c.361_362insA (p.Cys121Ter) n.620_621insA c.*38_*39insA (n.*38_*39insA) | |
| 3 | g.10149808G>A | CA357010 | VHL | c.*162G>A (n.*162G>A) c.621G>A (n.621G>A) c.596G>A (p.Cys199Tyr) c.485G>A (p.Cys162Tyr) c.362G>A (p.Cys121Tyr) n.621G>A c.*39G>A (n.*39G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149808G>C | CA351756124 | VHL | c.*162G>C (n.*162G>C) c.621G>C (n.621G>C) c.596G>C (p.Cys199Ser) c.485G>C (p.Cys162Ser) c.362G>C (p.Cys121Ser) n.621G>C c.*39G>C (n.*39G>C) | dbSNP gnomAD v4 |
| 3 | g.10149808G= | CA1345062258 | VHL | c.*162G= (n.*162G=) c.621G= (n.621G=) c.596G= (p.Cys199=) c.485G= (p.Cys162=) c.362G= (p.Cys121=) n.621G= c.*39G= (n.*39G=) | |
| 3 | g.10149808G>T | CA020418 | VHL | c.*162G>T (n.*162G>T) c.621G>T (n.621G>T) c.596G>T (p.Cys199Phe) c.485G>T (p.Cys162Phe) c.362G>T (p.Cys121Phe) n.621G>T c.*39G>T (n.*39G>T) | ClinVar dbSNP ExAC COSMIC |
| 3 | g.10149808dup | CA916832757 | VHL | c.*162dup (n.*162dup) c.621dup (n.621dup) c.596dup (p.Cys199TrpfsTer12) c.485dup (p.Cys162TrpfsTer12) c.362dup (p.Cys121TrpfsTer12) n.621dup c.*39dup (n.*39dup) | dbSNP |
| 3 | g.10149808_10149809delinsTT | CA2740090901 | VHL | c.*162_*163delinsTT (n.*162_*163delinsTT) c.621_622delinsTT (n.621_622delinsTT) c.596_597delinsTT (p.Cys199Phe) c.485_486delinsTT (p.Cys162Phe) c.362_363delinsTT (p.Cys121Phe) n.621_622delinsTT c.*39_*40delinsTT (n.*39_*40delinsTT) | ClinVar |
| 3 | g.10149809C>A | CA357112 | VHL | c.*163C>A (n.*163C>A) c.622C>A (n.622C>A) c.597C>A (p.Cys199Ter) c.486C>A (p.Cys162Ter) c.363C>A (p.Cys121Ter) n.622C>A c.*40C>A (n.*40C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149809C= | CA1345062264 | VHL | c.*163C= (n.*163C=) c.622C= (n.622C=) c.597C= (p.Cys199=) c.486C= (p.Cys162=) c.363C= (p.Cys121=) n.622C= c.*40C= (n.*40C=) |