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 |
|---|---|---|---|---|---|
| 16 | g.29814416_29814431delinsTA | CA2499223484 | PRRT2 | c.963_978delinsTA (p.Val322AsnfsTer14) c.*139_*154delinsTA (n.*139_*154delinsTA) c.808_823delinsTA (p.Gly270Ter) c.*278_*293delinsTA (n.*278_*293delinsTA) c.805_820delinsTA (p.Gly269Ter) c.412_427delinsTA (p.Gly138Ter) c.*462_*477delinsTA (n.*462_*477delinsTA) c.963_978delinsTA (p.Val322AsnfsTer13) c.952_967delinsTA (p.Gly318Ter) c.963_978delinsTA (p.Val322AsnfsTer?) c.963_978delinsTA (p.Val322AsnfsTer21) | ClinVar dbSNP |
| 16 | g.29814424_29814425delinsGA | CA2216294545 | PRRT2 | c.971_972delinsGA (p.Gly324=) c.431_432delinsGA (p.Gly144=) c.*147_*148delinsGA (n.*147_*148delinsGA) c.816_817delinsGA (p.Gly272=) c.*286_*287delinsGA (n.*286_*287delinsGA) c.813_814delinsGA (p.Gly271=) c.420_421delinsGA (p.Gly140=) c.*470_*471delinsGA (n.*470_*471delinsGA) c.960_961delinsGA (p.Gly320=) | |
| 16 | g.29814424_29814428delinsGAGTC | CA2216294547 | PRRT2 | c.971_975delinsGAGTC (p.Gly324=) c.431_435delinsGAGTC (p.Gly144=) c.*147_*151delinsGAGTC (n.*147_*151delinsGAGTC) c.816_820delinsGAGTC (p.Gly272=) c.*286_*290delinsGAGTC (n.*286_*290delinsGAGTC) c.813_817delinsGAGTC (p.Gly271=) c.420_424delinsGAGTC (p.Gly140=) c.*470_*474delinsGAGTC (n.*470_*474delinsGAGTC) c.960_964delinsGAGTC (p.Gly320=) | |
| 16 | g.29814425del | CA259998 | PRRT2 | c.972del (p.Val325SerfsTer12) c.432del (p.Val145SerfsTer?) c.*148del (n.*148del) c.817del (p.Ser273ValfsTer17) c.*287del (n.*287del) c.814del (p.Ser272ValfsTer17) c.421del (p.Ser141ValfsTer17) c.*471del (n.*471del) c.961del (p.Ser321ValfsTer18) | ClinVar dbSNP |
| 16 | g.29814425A= | CA2216294548 | PRRT2 | c.972A= (p.Gly324=) c.432A= (p.Gly144=) c.*148A= (n.*148A=) c.817A= (p.Ser273=) c.*287A= (n.*287A=) c.814A= (p.Ser272=) c.421A= (p.Ser141=) c.*471A= (n.*471A=) c.961A= (p.Ser321=) | |
| 16 | g.29814425A>C | CA494582876 | PRRT2 | c.972A>C (p.Gly324=) c.432A>C (p.Gly144=) c.*148A>C (n.*148A>C) c.817A>C (p.Ser273Arg) c.*287A>C (n.*287A>C) c.814A>C (p.Ser272Arg) c.421A>C (p.Ser141Arg) c.*471A>C (n.*471A>C) c.961A>C (p.Ser321Arg) | gnomAD v4 |
| 16 | g.29814425A>G | CA494582880 | PRRT2 | c.972A>G (p.Gly324=) c.432A>G (p.Gly144=) c.*148A>G (n.*148A>G) c.817A>G (p.Ser273Gly) c.*287A>G (n.*287A>G) c.814A>G (p.Ser272Gly) c.421A>G (p.Ser141Gly) c.*471A>G (n.*471A>G) c.961A>G (p.Ser321Gly) | dbSNP gnomAD v4 |
| 16 | g.29814425A>T | CA494582879 | PRRT2 | c.972A>T (p.Gly324=) c.432A>T (p.Gly144=) c.*148A>T (n.*148A>T) c.817A>T (p.Ser273Cys) c.*287A>T (n.*287A>T) c.814A>T (p.Ser272Cys) c.421A>T (p.Ser141Cys) c.*471A>T (n.*471A>T) c.961A>T (p.Ser321Cys) | |
| 16 | g.29814425_29814428del | CA658798587 | PRRT2 | c.972_975del (p.Val325SerfsTer11) c.432_435del (p.Gly144=) c.*148_*151del (n.*148_*151del) c.817_820del (p.Ser273LeufsTer16) c.*287_*290del (n.*287_*290del) c.814_817del (p.Ser272LeufsTer16) c.421_424del (p.Ser141LeufsTer16) c.*471_*474del (n.*471_*474del) c.961_964del (p.Ser321LeufsTer17) | ClinVar dbSNP |
| 16 | g.29814426G>A | CA395480745 | PRRT2 | c.973G>A (p.Val325Ile) c.433G>A (p.Val145Ile) c.*149G>A (n.*149G>A) c.818G>A (p.Ser273Asn) c.*288G>A (n.*288G>A) c.815G>A (p.Ser272Asn) c.422G>A (p.Ser141Asn) c.*472G>A (n.*472G>A) c.962G>A (p.Ser321Asn) | ClinVar dbSNP gnomAD v4 |
| 16 | g.29814426G>C | CA395480749 | PRRT2 | c.973G>C (p.Val325Leu) c.433G>C (p.Val145Leu) c.*149G>C (n.*149G>C) c.818G>C (p.Ser273Thr) c.*288G>C (n.*288G>C) c.815G>C (p.Ser272Thr) c.422G>C (p.Ser141Thr) c.*472G>C (n.*472G>C) c.962G>C (p.Ser321Thr) | |
| 16 | g.29814426G>T | CA395480747 | PRRT2 | c.973G>T (p.Val325Phe) c.433G>T (p.Val145Phe) c.*149G>T (n.*149G>T) c.818G>T (p.Ser273Ile) c.*288G>T (n.*288G>T) c.815G>T (p.Ser272Ile) c.422G>T (p.Ser141Ile) c.*472G>T (n.*472G>T) c.962G>T (p.Ser321Ile) | |
| 16 | g.29814426_29814429delinsGTCC | CA2216294549 | PRRT2 | c.973_976delinsGTCC (p.Val325=) c.433_436delinsGTCC (p.Val145=) c.*149_*152delinsGTCC (n.*149_*152delinsGTCC) c.818_821delinsGTCC (p.Ser273=) c.*288_*291delinsGTCC (n.*288_*291delinsGTCC) c.815_818delinsGTCC (p.Ser272=) c.422_425delinsGTCC (p.Ser141=) c.*472_*475delinsGTCC (n.*472_*475delinsGTCC) c.962_965delinsGTCC (p.Ser321=) | |
| 16 | g.29814427T>A | CA395480751 | PRRT2 | c.974T>A (p.Val325Asp) c.434T>A (p.Val145Asp) c.*150T>A (n.*150T>A) c.819T>A (p.Ser273Arg) c.*289T>A (n.*289T>A) c.816T>A (p.Ser272Arg) c.423T>A (p.Ser141Arg) c.*473T>A (n.*473T>A) c.963T>A (p.Ser321Arg) | |
| 16 | g.29814427T>C | CA7994634 | PRRT2 | c.974T>C (p.Val325Ala) c.434T>C (p.Val145Ala) c.*150T>C (n.*150T>C) c.819T>C (p.Ser273=) c.*289T>C (n.*289T>C) c.816T>C (p.Ser272=) c.423T>C (p.Ser141=) c.*473T>C (n.*473T>C) c.963T>C (p.Ser321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.29814427T>G | CA395480753 | PRRT2 | c.974T>G (p.Val325Gly) c.434T>G (p.Val145Gly) c.*150T>G (n.*150T>G) c.819T>G (p.Ser273Arg) c.*289T>G (n.*289T>G) c.816T>G (p.Ser272Arg) c.423T>G (p.Ser141Arg) c.*473T>G (n.*473T>G) c.963T>G (p.Ser321Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.29814427T= | CA2216294550 | PRRT2 | c.974T= (p.Val325=) c.434T= (p.Val145=) c.*150T= (n.*150T=) c.819T= (p.Ser273=) c.*289T= (n.*289T=) c.816T= (p.Ser272=) c.423T= (p.Ser141=) c.*473T= (n.*473T=) c.963T= (p.Ser321=) | |
| 16 | g.29814429_29814431del | CA7994633 | PRRT2 | c.976_978del (p.Leu326del) c.*152_*154del (n.*152_*154del) c.821_823del (p.Pro274del) c.*291_*293del (n.*291_*293del) c.818_820del (p.Pro273del) c.425_427del (p.Pro142del) c.*475_*477del (n.*475_*477del) c.965_967del (p.Pro322del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.29814428C>A | CA494582889 | PRRT2 | c.975C>A (p.Val325=) c.435C>A (p.Val145=) c.*151C>A (n.*151C>A) c.820C>A (p.Pro274Thr) c.*290C>A (n.*290C>A) c.817C>A (p.Pro273Thr) c.424C>A (p.Pro142Thr) c.*474C>A (n.*474C>A) c.964C>A (p.Pro322Thr) | gnomAD v4 |
| 16 | g.29814428C>G | CA494582891 | PRRT2 | c.975C>G (p.Val325=) c.435C>G (p.Val145=) c.*151C>G (n.*151C>G) c.820C>G (p.Pro274Ala) c.*290C>G (n.*290C>G) c.817C>G (p.Pro273Ala) c.424C>G (p.Pro142Ala) c.*474C>G (n.*474C>G) c.964C>G (p.Pro322Ala) | |
| 16 | g.29814428C>T | CA494582893 | PRRT2 | c.975C>T (p.Val325=) c.435C>T (p.Val145=) c.*151C>T (n.*151C>T) c.820C>T (p.Pro274Ser) c.*290C>T (n.*290C>T) c.817C>T (p.Pro273Ser) c.424C>T (p.Pro142Ser) c.*474C>T (n.*474C>T) c.964C>T (p.Pro322Ser) | |
| 16 | g.29814429del | CA2697555755 | PRRT2 | c.976del (p.Leu326SerfsTer11) c.436del c.*152del (n.*152del) c.821del (p.Pro274LeufsTer16) c.*291del (n.*291del) c.818del (p.Pro273LeufsTer16) c.425del (p.Pro142LeufsTer16) c.*475del (n.*475del) c.965del (p.Pro322LeufsTer17) | ClinVar |
| 16 | g.29814429C>A | CA395480754 | PRRT2 | c.976C>A (p.Leu326Ile) c.436C>A c.*152C>A (n.*152C>A) c.821C>A (p.Pro274His) c.*291C>A (n.*291C>A) c.818C>A (p.Pro273His) c.425C>A (p.Pro142His) c.*475C>A (n.*475C>A) c.965C>A (p.Pro322His) | ClinVar dbSNP gnomAD v4 |
| 16 | g.29814429C= | CA2216294552 | PRRT2 | c.976C= (p.Leu326=) c.436C= c.*152C= (n.*152C=) c.821C= (p.Pro274=) c.*291C= (n.*291C=) c.818C= (p.Pro273=) c.425C= (p.Pro142=) c.*475C= (n.*475C=) c.965C= (p.Pro322=) | |
| 16 | g.29814429C>G | CA395480755 | PRRT2 | c.976C>G (p.Leu326Val) c.436C>G c.*152C>G (n.*152C>G) c.821C>G (p.Pro274Arg) c.*291C>G (n.*291C>G) c.818C>G (p.Pro273Arg) c.425C>G (p.Pro142Arg) c.*475C>G (n.*475C>G) c.965C>G (p.Pro322Arg) | dbSNP gnomAD v4 |
| 16 | g.29814429C>T | CA395480757 | PRRT2 | c.976C>T (p.Leu326Phe) c.436C>T c.*152C>T (n.*152C>T) c.821C>T (p.Pro274Leu) c.*291C>T (n.*291C>T) c.818C>T (p.Pro273Leu) c.425C>T (p.Pro142Leu) c.*475C>T (n.*475C>T) c.965C>T (p.Pro322Leu) | |
| 16 | g.29814429_29814432delinsCTCA | CA2216294551 | PRRT2 | c.976_979delinsCTCA (p.Leu326=) c.*152_*155delinsCTCA (n.*152_*155delinsCTCA) c.821_824delinsCTCA (p.Pro274=) c.*291_*294delinsCTCA (n.*291_*294delinsCTCA) c.818_821delinsCTCA (p.Pro273=) c.425_428delinsCTCA (p.Pro142=) c.*475_*478delinsCTCA (n.*475_*478delinsCTCA) c.965_968delinsCTCA (p.Pro322=) | |
| 16 | g.29814430T>A | CA395480759 | PRRT2 | c.977T>A (p.Leu326His) c.*153T>A (n.*153T>A) c.822T>A (p.Pro274=) c.*292T>A (n.*292T>A) c.819T>A (p.Pro273=) c.426T>A (p.Pro142=) c.*476T>A (n.*476T>A) c.966T>A (p.Pro322=) | |
| 16 | g.29814430T>C | CA395480760 | PRRT2 | c.977T>C (p.Leu326Pro) c.*153T>C (n.*153T>C) c.822T>C (p.Pro274=) c.*292T>C (n.*292T>C) c.819T>C (p.Pro273=) c.426T>C (p.Pro142=) c.*476T>C (n.*476T>C) c.966T>C (p.Pro322=) | |
| 16 | g.29814430T>G | CA395480762 | PRRT2 | c.977T>G (p.Leu326Arg) c.*153T>G (n.*153T>G) c.822T>G (p.Pro274=) c.*292T>G (n.*292T>G) c.819T>G (p.Pro273=) c.426T>G (p.Pro142=) c.*476T>G (n.*476T>G) c.966T>G (p.Pro322=) | |
| 16 | g.29814438_29814440dup | CA2695223041 | PRRT2 | c.985_987dup (p.Ile329_Ala330insIle) c.*161_*163dup (n.*161_*163dup) c.830_832dup (p.His277_Arg278insHis) c.*300_*302dup (n.*300_*302dup) c.827_829dup (p.His276_Arg277insHis) c.434_436dup (p.His145_Arg146insHis) c.*484_*486dup (n.*484_*486dup) c.974_976dup (p.His325_Arg326insHis) | |
| 16 | g.29814438_29814440del | CA16043082 | PRRT2 | c.985_987del (p.Ile329del) c.*161_*163del (n.*161_*163del) c.830_832del (p.His277del) c.*300_*302del (n.*300_*302del) c.827_829del (p.His276del) c.434_436del (p.His145del) c.*484_*486del (n.*484_*486del) c.974_976del (p.His325del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.29814431C>A | CA494582904 | PRRT2 | c.978C>A (p.Leu326=) c.*154C>A (n.*154C>A) c.823C>A (p.His275Asn) c.*293C>A (n.*293C>A) c.820C>A (p.His274Asn) c.427C>A (p.His143Asn) c.*477C>A (n.*477C>A) c.967C>A (p.His323Asn) | |
| 16 | g.29814431C>G | CA494582902 | PRRT2 | c.978C>G (p.Leu326=) c.*154C>G (n.*154C>G) c.823C>G (p.His275Asp) c.*293C>G (n.*293C>G) c.820C>G (p.His274Asp) c.427C>G (p.His143Asp) c.*477C>G (n.*477C>G) c.967C>G (p.His323Asp) | |
| 16 | g.29814431C>T | CA494582905 | PRRT2 | c.978C>T (p.Leu326=) c.*154C>T (n.*154C>T) c.823C>T (p.His275Tyr) c.*293C>T (n.*293C>T) c.820C>T (p.His274Tyr) c.427C>T (p.His143Tyr) c.*477C>T (n.*477C>T) c.967C>T (p.His323Tyr) | |
| 16 | g.29814432A= | CA2216294553 | PRRT2 | c.979A= (p.Ile327=) c.*155A= (n.*155A=) c.824A= (p.His275=) c.*294A= (n.*294A=) c.821A= (p.His274=) c.428A= (p.His143=) c.*478A= (n.*478A=) c.968A= (p.His323=) | |
| 16 | g.29814432A>C | CA395480767 | PRRT2 | c.979A>C (p.Ile327Leu) c.*155A>C (n.*155A>C) c.824A>C (p.His275Pro) c.*294A>C (n.*294A>C) c.821A>C (p.His274Pro) c.428A>C (p.His143Pro) c.*478A>C (n.*478A>C) c.968A>C (p.His323Pro) | COSMIC COSMIC |
| 16 | g.29814432A>G | CA395480766 | PRRT2 | c.979A>G (p.Ile327Val) c.*155A>G (n.*155A>G) c.824A>G (p.His275Arg) c.*294A>G (n.*294A>G) c.821A>G (p.His274Arg) c.428A>G (p.His143Arg) c.*478A>G (n.*478A>G) c.968A>G (p.His323Arg) | dbSNP |
| 16 | g.29814432A>T | CA395480764 | PRRT2 | c.979A>T (p.Ile327Phe) c.*155A>T (n.*155A>T) c.824A>T (p.His275Leu) c.*294A>T (n.*294A>T) c.821A>T (p.His274Leu) c.428A>T (p.His143Leu) c.*478A>T (n.*478A>T) c.968A>T (p.His323Leu) | |
| 16 | g.29814433T>A | CA395480768 | PRRT2 | c.980T>A (p.Ile327Asn) c.*156T>A (n.*156T>A) c.825T>A (p.His275Gln) c.*295T>A (n.*295T>A) c.822T>A (p.His274Gln) c.429T>A (p.His143Gln) c.*479T>A (n.*479T>A) c.969T>A (p.His323Gln) | |
| 16 | g.29814433T>C | CA395480769 | PRRT2 | c.980T>C (p.Ile327Thr) c.*156T>C (n.*156T>C) c.825T>C (p.His275=) c.*295T>C (n.*295T>C) c.822T>C (p.His274=) c.429T>C (p.His143=) c.*479T>C (n.*479T>C) c.969T>C (p.His323=) | |
| 16 | g.29814433T>G | CA395480770 | PRRT2 | c.980T>G (p.Ile327Ser) c.*156T>G (n.*156T>G) c.825T>G (p.His275Gln) c.*295T>G (n.*295T>G) c.822T>G (p.His274Gln) c.429T>G (p.His143Gln) c.*479T>G (n.*479T>G) c.969T>G (p.His323Gln) | |
| 16 | g.29814433dup | CA2695223042 | PRRT2 | c.980dup (p.Ile328HisfsTer13) c.*156dup (n.*156dup) c.825dup (p.His276SerfsTer10) c.*295dup (n.*295dup) c.822dup (p.His275SerfsTer10) c.429dup (p.His144SerfsTer10) c.*479dup (n.*479dup) c.980dup (p.Ile328HisfsTer12) c.969dup (p.His324SerfsTer10) c.980dup (p.Ile328HisfsTer?) c.980dup (p.Ile328HisfsTer20) | |
| 16 | g.29814439_29814456dup | CA2632606484 | PRRT2 | c.986_1003dup (p.Ile334_Asn335insIleAlaSerCysValIle) c.*162_*179dup (n.*162_*179dup) c.831_848dup (p.His282_Gln283insHisArgLeuLeuArgHis) c.*301_*318dup (n.*301_*318dup) c.828_845dup (p.His281_Gln282insHisArgLeuLeuArgHis) c.435_452dup (p.His150_Gln151insHisArgLeuLeuArgHis) c.*485_*502dup (n.*485_*502dup) c.975_992dup (p.His330_Gln331insHisArgLeuLeuArgHis) | gnomAD v4 |
| 16 | g.29814434C>A | CA494582911 | PRRT2 | c.981C>A (p.Ile327=) c.*157C>A (n.*157C>A) c.826C>A (p.His276Asn) c.*296C>A (n.*296C>A) c.823C>A (p.His275Asn) c.430C>A (p.His144Asn) c.*480C>A (n.*480C>A) c.970C>A (p.His324Asn) | |
| 16 | g.29814434C= | CA2216294554 | PRRT2 | c.981C= (p.Ile327=) c.*157C= (n.*157C=) c.826C= (p.His276=) c.*296C= (n.*296C=) c.823C= (p.His275=) c.430C= (p.His144=) c.*480C= (n.*480C=) c.970C= (p.His324=) | |
| 16 | g.29814434C>G | CA395480772 | PRRT2 | c.981C>G (p.Ile327Met) c.*157C>G (n.*157C>G) c.826C>G (p.His276Asp) c.*296C>G (n.*296C>G) c.823C>G (p.His275Asp) c.430C>G (p.His144Asp) c.*480C>G (n.*480C>G) c.970C>G (p.His324Asp) | dbSNP gnomAD v4 |
| 16 | g.29814434C>T | CA494582913 | PRRT2 | c.981C>T (p.Ile327=) c.*157C>T (n.*157C>T) c.826C>T (p.His276Tyr) c.*296C>T (n.*296C>T) c.823C>T (p.His275Tyr) c.430C>T (p.His144Tyr) c.*480C>T (n.*480C>T) c.970C>T (p.His324Tyr) | |
| 16 | g.29814435A>C | CA395480774 | PRRT2 | c.982A>C (p.Ile328Leu) c.*158A>C (n.*158A>C) c.827A>C (p.His276Pro) c.1A>C (p.Ile1Leu) c.*297A>C (n.*297A>C) c.824A>C (p.His275Pro) c.431A>C (p.His144Pro) c.*481A>C (n.*481A>C) c.971A>C (p.His324Pro) | |
| 16 | g.29814435A>G | CA395480775 | PRRT2 | c.982A>G (p.Ile328Val) c.*158A>G (n.*158A>G) c.827A>G (p.His276Arg) c.1A>G (p.Ile1Val) c.*297A>G (n.*297A>G) c.824A>G (p.His275Arg) c.431A>G (p.His144Arg) c.*481A>G (n.*481A>G) c.971A>G (p.His324Arg) | ClinVar dbSNP |