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 |
|---|---|---|---|---|---|
| 9 | g.98076875_98076990delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC | CA1866767116 | NANS,TRIM14 | c.349-43_421delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC c.*29-7303_*29-7188delinsGAAAATTATTAGTGTCTCCAGATCCAACTTTGAAAAATGGAACATTCAGTTCATGCAGGAATTCAACTGCCATCTACAAAAATCAAAGAGGGAGCTCCTTTTCACCATTGTCCAAA (n.*29-7303_*29-7188delinsGAAAATTATTAGTGTCTCCAGATCCAACTTTGAAAAATGGAACATTCAGTTCATGCAGGAATTCAACTGCCATCTACAAAAATCAAAGAGGGAGCTCCTTTTCACCATTGTCCAAA) c.-249_-134delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC (n.-249_-134delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC) n.2233_2348delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC n.553-43_625delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC c.1-43_73delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC c.-206-43_-134delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC c.*29-4824_*29-4709delinsGAAAATTATTAGTGTCTCCAGATCCAACTTTGAAAAATGGAACATTCAGTTCATGCAGGAATTCAACTGCCATCTACAAAAATCAAAGAGGGAGCTCCTTTTCACCATTGTCCAAA (n.*29-4824_*29-4709delinsGAAAATTATTAGTGTCTCCAGATCCAACTTTGAAAAATGGAACATTCAGTTCATGCAGGAATTCAACTGCCATCTACAAAAATCAAAGAGGGAGCTCCTTTTCACCATTGTCCAAA) c.-43_73delinsTTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC | |
| 9 | g.98076876_98076990del | CA589339410 | NANS,TRIM14 | c.349-42_421del c.*29-7303_*29-7189del (n.*29-7303_*29-7189del) c.-248_-134del (n.-248_-134del) n.2234_2348del n.553-42_625del c.1-42_73del c.-206-42_-134del c.*29-4824_*29-4710del (n.*29-4824_*29-4710del) c.-42_73del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.98076959C>A | CA374197555 | NANS,TRIM14 | c.390C>A (p.Phe130Leu) c.*29-7272G>T (n.*29-7272G>T) c.-165C>A (n.-165C>A) n.2317C>A n.594C>A c.42C>A (p.Phe14Leu) c.14C>A (p.Ser5Ter) c.*29-4793G>T (n.*29-4793G>T) | |
| 9 | g.98076959C>G | CA374197553 | NANS,TRIM14 | c.390C>G (p.Phe130Leu) c.*29-7272G>C (n.*29-7272G>C) c.-165C>G (n.-165C>G) n.2317C>G n.594C>G c.42C>G (p.Phe14Leu) c.14C>G (p.Ser5Ter) c.*29-4793G>C (n.*29-4793G>C) | |
| 9 | g.98076959C>T | CA466419752 | NANS,TRIM14 | c.390C>T (p.Phe130=) c.*29-7272G>A (n.*29-7272G>A) c.-165C>T (n.-165C>T) n.2317C>T n.594C>T c.42C>T (p.Phe14=) c.14C>T (p.Ser5Leu) c.*29-4793G>A (n.*29-4793G>A) | |
| 9 | g.98076960A= | CA1866767244 | NANS,TRIM14 | c.391A= (p.Lys131=) c.*29-7273T= (n.*29-7273T=) c.-164A= (n.-164A=) n.2318A= n.595A= c.43A= (p.Lys15=) c.15A= (p.Ser5=) c.*29-4794T= (n.*29-4794T=) | |
| 9 | g.98076960A>C | CA374197558 | NANS,TRIM14 | c.391A>C (p.Lys131Gln) c.*29-7273T>G (n.*29-7273T>G) c.-164A>C (n.-164A>C) n.2318A>C n.595A>C c.43A>C (p.Lys15Gln) c.15A>C (p.Ser5=) c.*29-4794T>G (n.*29-4794T>G) | |
| 9 | g.98076960A>G | CA374197561 | NANS,TRIM14 | c.391A>G (p.Lys131Glu) c.*29-7273T>C (n.*29-7273T>C) c.-164A>G (n.-164A>G) n.2318A>G n.595A>G c.43A>G (p.Lys15Glu) c.15A>G (p.Ser5=) c.*29-4794T>C (n.*29-4794T>C) | dbSNP gnomAD v4 |
| 9 | g.98076960A>T | CA374197580 | NANS,TRIM14 | c.391A>T (p.Lys131Ter) c.*29-7273T>A (n.*29-7273T>A) c.-164A>T (n.-164A>T) n.2318A>T n.595A>T c.43A>T (p.Lys15Ter) c.15A>T (p.Ser5=) c.*29-4794T>A (n.*29-4794T>A) | |
| 9 | g.98076961A= | CA1866767245 | NANS,TRIM14 | c.392A= (p.Lys131=) c.*29-7274T= (n.*29-7274T=) c.-163A= (n.-163A=) n.2319A= n.596A= c.44A= (p.Lys15=) c.16A= (p.Lys6=) c.*29-4795T= (n.*29-4795T=) | |
| 9 | g.98076961A>C | CA374197582 | NANS,TRIM14 | c.392A>C (p.Lys131Thr) c.*29-7274T>G (n.*29-7274T>G) c.-163A>C (n.-163A>C) n.2319A>C n.596A>C c.44A>C (p.Lys15Thr) c.16A>C (p.Lys6Gln) c.*29-4795T>G (n.*29-4795T>G) | |
| 9 | g.98076961A>G | CA5150271 | NANS,TRIM14 | c.392A>G (p.Lys131Arg) c.*29-7274T>C (n.*29-7274T>C) c.-163A>G (n.-163A>G) n.2319A>G n.596A>G c.44A>G (p.Lys15Arg) c.16A>G (p.Lys6Glu) c.*29-4795T>C (n.*29-4795T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.98076961A>T | CA374197586 | NANS,TRIM14 | c.392A>T (p.Lys131Ile) c.*29-7274T>A (n.*29-7274T>A) c.-163A>T (n.-163A>T) n.2319A>T n.596A>T c.44A>T (p.Lys15Ile) c.16A>T (p.Lys6Ter) c.*29-4795T>A (n.*29-4795T>A) | |
| 9 | g.98076962A>C | CA374197587 | NANS,TRIM14 | c.393A>C (p.Lys131Asn) c.*29-7275T>G (n.*29-7275T>G) c.-162A>C (n.-162A>C) n.2320A>C n.597A>C c.45A>C (p.Lys15Asn) c.17A>C (p.Lys6Thr) c.*29-4796T>G (n.*29-4796T>G) | |
| 9 | g.98076962A>G | CA466419757 | NANS,TRIM14 | c.393A>G (p.Lys131=) c.*29-7275T>C (n.*29-7275T>C) c.-162A>G (n.-162A>G) n.2320A>G n.597A>G c.45A>G (p.Lys15=) c.17A>G (p.Lys6Arg) c.*29-4796T>C (n.*29-4796T>C) | |
| 9 | g.98076962A>T | CA374197590 | NANS,TRIM14 | c.393A>T (p.Lys131Asn) c.*29-7275T>A (n.*29-7275T>A) c.-162A>T (n.-162A>T) n.2320A>T n.597A>T c.45A>T (p.Lys15Asn) c.17A>T (p.Lys6Met) c.*29-4796T>A (n.*29-4796T>A) | |
| 9 | g.98076963G>A | CA374197596 | NANS,TRIM14 | c.394G>A (p.Val132Ile) c.*29-7276C>T (n.*29-7276C>T) c.-161G>A (n.-161G>A) n.2321G>A n.598G>A c.46G>A (p.Val16Ile) c.18G>A (p.Lys6=) c.*29-4797C>T (n.*29-4797C>T) | |
| 9 | g.98076963G>C | CA374197598 | NANS,TRIM14 | c.394G>C (p.Val132Leu) c.*29-7276C>G (n.*29-7276C>G) c.-161G>C (n.-161G>C) n.2321G>C n.598G>C c.46G>C (p.Val16Leu) c.18G>C (p.Lys6Asn) c.*29-4797C>G (n.*29-4797C>G) | |
| 9 | g.98076963G>T | CA374197600 | NANS,TRIM14 | c.394G>T (p.Val132Phe) c.*29-7276C>A (n.*29-7276C>A) c.-161G>T (n.-161G>T) n.2321G>T n.598G>T c.46G>T (p.Val16Phe) c.18G>T (p.Lys6Asn) c.*29-4797C>A (n.*29-4797C>A) | |
| 9 | g.98076964T>A | CA374197603 | NANS,TRIM14 | c.395T>A (p.Val132Asp) c.*29-7277A>T (n.*29-7277A>T) c.-160T>A (n.-160T>A) n.2322T>A n.599T>A c.47T>A (p.Val16Asp) c.19T>A (p.Leu7Met) c.*29-4798A>T (n.*29-4798A>T) | |
| 9 | g.98076964T>C | CA5150272 | NANS,TRIM14 | c.395T>C (p.Val132Ala) c.*29-7277A>G (n.*29-7277A>G) c.-160T>C (n.-160T>C) n.2322T>C n.599T>C c.47T>C (p.Val16Ala) c.19T>C (p.Leu7=) c.*29-4798A>G (n.*29-4798A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.98076964T>G | CA374197602 | NANS,TRIM14 | c.395T>G (p.Val132Gly) c.*29-7277A>C (n.*29-7277A>C) c.-160T>G (n.-160T>G) n.2322T>G n.599T>G c.47T>G (p.Val16Gly) c.19T>G (p.Leu7Val) c.*29-4798A>C (n.*29-4798A>C) | |
| 9 | g.98076964T= | CA1866767249 | NANS,TRIM14 | c.395T= (p.Val132=) c.*29-7277A= (n.*29-7277A=) c.-160T= (n.-160T=) n.2322T= n.599T= c.47T= (p.Val16=) c.19T= (p.Leu7=) c.*29-4798A= (n.*29-4798A=) | |
| 9 | g.98076965T>A | CA466419758 | NANS,TRIM14 | c.396T>A (p.Val132=) c.*29-7278A>T (n.*29-7278A>T) c.-159T>A (n.-159T>A) n.2323T>A n.600T>A c.48T>A (p.Val16=) c.20T>A (p.Leu7Ter) c.*29-4799A>T (n.*29-4799A>T) | |
| 9 | g.98076965T>C | CA466419759 | NANS,TRIM14 | c.396T>C (p.Val132=) c.*29-7278A>G (n.*29-7278A>G) c.-159T>C (n.-159T>C) n.2323T>C n.600T>C c.48T>C (p.Val16=) c.20T>C (p.Leu7Ser) c.*29-4799A>G (n.*29-4799A>G) | |
| 9 | g.98076965T>G | CA466419762 | NANS,TRIM14 | c.396T>G (p.Val132=) c.*29-7278A>C (n.*29-7278A>C) c.-159T>G (n.-159T>G) n.2323T>G n.600T>G c.48T>G (p.Val16=) c.20T>G (p.Leu7Trp) c.*29-4799A>C (n.*29-4799A>C) | |
| 9 | g.98076966G>A | CA374197608 | NANS,TRIM14 | c.397G>A (p.Gly133Arg) c.*29-7279C>T (n.*29-7279C>T) c.-158G>A (n.-158G>A) n.2324G>A n.601G>A c.49G>A (p.Gly17Arg) c.21G>A (p.Leu7=) c.*29-4800C>T (n.*29-4800C>T) | |
| 9 | g.98076966G>C | CA374197610 | NANS,TRIM14 | c.397G>C (p.Gly133Arg) c.*29-7279C>G (n.*29-7279C>G) c.-158G>C (n.-158G>C) n.2324G>C n.601G>C c.49G>C (p.Gly17Arg) c.21G>C (p.Leu7Phe) c.*29-4800C>G (n.*29-4800C>G) | gnomAD v4 |
| 9 | g.98076966G>T | CA374197612 | NANS,TRIM14 | c.397G>T (p.Gly133Ter) c.*29-7279C>A (n.*29-7279C>A) c.-158G>T (n.-158G>T) n.2324G>T n.601G>T c.49G>T (p.Gly17Ter) c.21G>T (p.Leu7Phe) c.*29-4800C>A (n.*29-4800C>A) | |
| 9 | g.98076967G>A | CA374197614 | NANS,TRIM14 | c.398G>A (p.Gly133Glu) c.*29-7280C>T (n.*29-7280C>T) c.-157G>A (n.-157G>A) n.2325G>A n.602G>A c.50G>A (p.Gly17Glu) c.22G>A (p.Asp8Asn) c.*29-4801C>T (n.*29-4801C>T) | gnomAD v4 |
| 9 | g.98076967G>C | CA374197615 | NANS,TRIM14 | c.398G>C (p.Gly133Ala) c.*29-7280C>G (n.*29-7280C>G) c.-157G>C (n.-157G>C) n.2325G>C n.602G>C c.50G>C (p.Gly17Ala) c.22G>C (p.Asp8His) c.*29-4801C>G (n.*29-4801C>G) | |
| 9 | g.98076967G= | CA1866767254 | NANS,TRIM14 | c.398G= (p.Gly133=) c.*29-7280C= (n.*29-7280C=) c.-157G= (n.-157G=) n.2325G= n.602G= c.50G= (p.Gly17=) c.22G= (p.Asp8=) c.*29-4801C= (n.*29-4801C=) | |
| 9 | g.98076967G>T | CA10581238 | NANS,TRIM14 | c.398G>T (p.Gly133Val) c.*29-7280C>A (n.*29-7280C>A) c.-157G>T (n.-157G>T) n.2325G>T n.602G>T c.50G>T (p.Gly17Val) c.22G>T (p.Asp8Tyr) c.*29-4801C>A (n.*29-4801C>A) | ClinVar dbSNP |
| 9 | g.98076968A>C | CA466419766 | NANS,TRIM14 | c.399A>C (p.Gly133=) c.*29-7281T>G (n.*29-7281T>G) c.-156A>C (n.-156A>C) n.2326A>C n.603A>C c.51A>C (p.Gly17=) c.23A>C (p.Asp8Ala) c.*29-4802T>G (n.*29-4802T>G) | |
| 9 | g.98076968A>G | CA466419767 | NANS,TRIM14 | c.399A>G (p.Gly133=) c.*29-7281T>C (n.*29-7281T>C) c.-156A>G (n.-156A>G) n.2326A>G n.603A>G c.51A>G (p.Gly17=) c.23A>G (p.Asp8Gly) c.*29-4802T>C (n.*29-4802T>C) | |
| 9 | g.98076968A>T | CA466419768 | NANS,TRIM14 | c.399A>T (p.Gly133=) c.*29-7281T>A (n.*29-7281T>A) c.-156A>T (n.-156A>T) n.2326A>T n.603A>T c.51A>T (p.Gly17=) c.23A>T (p.Asp8Val) c.*29-4802T>A (n.*29-4802T>A) | |
| 9 | g.98076969T>A | CA374197624 | NANS,TRIM14 | c.400T>A (p.Ser134Thr) c.*29-7282A>T (n.*29-7282A>T) c.-155T>A (n.-155T>A) n.2327T>A n.604T>A c.52T>A (p.Ser18Thr) c.24T>A (p.Asp8Glu) c.*29-4803A>T (n.*29-4803A>T) | |
| 9 | g.98076969T>C | CA374197625 | NANS,TRIM14 | c.400T>C (p.Ser134Pro) c.*29-7282A>G (n.*29-7282A>G) c.-155T>C (n.-155T>C) n.2327T>C n.604T>C c.52T>C (p.Ser18Pro) c.24T>C (p.Asp8=) c.*29-4803A>G (n.*29-4803A>G) | |
| 9 | g.98076969T>G | CA374197626 | NANS,TRIM14 | c.400T>G (p.Ser134Ala) c.*29-7282A>C (n.*29-7282A>C) c.-155T>G (n.-155T>G) n.2327T>G n.604T>G c.52T>G (p.Ser18Ala) c.24T>G (p.Asp8Glu) c.*29-4803A>C (n.*29-4803A>C) | |
| 9 | g.98076970C>A | CA374197627 | NANS,TRIM14 | c.401C>A (p.Ser134Tyr) c.*29-7283G>T (n.*29-7283G>T) c.-154C>A (n.-154C>A) n.2328C>A n.605C>A c.53C>A (p.Ser18Tyr) c.25C>A (p.Leu9Met) c.*29-4804G>T (n.*29-4804G>T) | |
| 9 | g.98076970C>G | CA374197628 | NANS,TRIM14 | c.401C>G (p.Ser134Cys) c.*29-7283G>C (n.*29-7283G>C) c.-154C>G (n.-154C>G) n.2328C>G n.605C>G c.53C>G (p.Ser18Cys) c.25C>G (p.Leu9Val) c.*29-4804G>C (n.*29-4804G>C) | gnomAD v4 |
| 9 | g.98076970C>T | CA374197629 | NANS,TRIM14 | c.401C>T (p.Ser134Phe) c.*29-7283G>A (n.*29-7283G>A) c.-154C>T (n.-154C>T) n.2328C>T n.605C>T c.53C>T (p.Ser18Phe) c.25C>T (p.Leu9=) c.*29-4804G>A (n.*29-4804G>A) | gnomAD v4 COSMIC |
| 9 | g.98076971T>A | CA466419770 | NANS,TRIM14 | c.402T>A (p.Ser134=) c.*29-7284A>T (n.*29-7284A>T) c.-153T>A (n.-153T>A) n.2329T>A n.606T>A c.54T>A (p.Ser18=) c.26T>A (p.Leu9Gln) c.*29-4805A>T (n.*29-4805A>T) | gnomAD v4 |
| 9 | g.98076971T>C | CA466419771 | NANS,TRIM14 | c.402T>C (p.Ser134=) c.*29-7284A>G (n.*29-7284A>G) c.-153T>C (n.-153T>C) n.2329T>C n.606T>C c.54T>C (p.Ser18=) c.26T>C (p.Leu9Pro) c.*29-4805A>G (n.*29-4805A>G) | |
| 9 | g.98076971T>G | CA466419772 | NANS,TRIM14 | c.402T>G (p.Ser134=) c.*29-7284A>C (n.*29-7284A>C) c.-153T>G (n.-153T>G) n.2329T>G n.606T>G c.54T>G (p.Ser18=) c.26T>G (p.Leu9Arg) c.*29-4805A>C (n.*29-4805A>C) | |
| 9 | g.98076972G>A | CA374197633 | NANS,TRIM14 | c.403G>A (p.Gly135Arg) c.*29-7285C>T (n.*29-7285C>T) c.-152G>A (n.-152G>A) n.2330G>A n.607G>A c.55G>A (p.Gly19Arg) c.27G>A (p.Leu9=) c.*29-4806C>T (n.*29-4806C>T) | gnomAD v4 |
| 9 | g.98076972G>C | CA374197636 | NANS,TRIM14 | c.403G>C (p.Gly135Arg) c.*29-7285C>G (n.*29-7285C>G) c.-152G>C (n.-152G>C) n.2330G>C n.607G>C c.55G>C (p.Gly19Arg) c.27G>C (p.Leu9=) c.*29-4806C>G (n.*29-4806C>G) | |
| 9 | g.98076972G>T | CA374197631 | NANS,TRIM14 | c.403G>T (p.Gly135Ter) c.*29-7285C>A (n.*29-7285C>A) c.-152G>T (n.-152G>T) n.2330G>T n.607G>T c.55G>T (p.Gly19Ter) c.27G>T (p.Leu9=) c.*29-4806C>A (n.*29-4806C>A) | |
| 9 | g.98076973G>A | CA374197639 | NANS,TRIM14 | c.404G>A (p.Gly135Glu) c.*29-7286C>T (n.*29-7286C>T) c.-151G>A (n.-151G>A) n.2331G>A n.608G>A c.56G>A (p.Gly19Glu) c.28G>A (p.Glu10Lys) c.*29-4807C>T (n.*29-4807C>T) | gnomAD v4 |
| 9 | g.98076973G>C | CA374197641 | NANS,TRIM14 | c.404G>C (p.Gly135Ala) c.*29-7286C>G (n.*29-7286C>G) c.-151G>C (n.-151G>C) n.2331G>C n.608G>C c.56G>C (p.Gly19Ala) c.28G>C (p.Glu10Gln) c.*29-4807C>G (n.*29-4807C>G) |