UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15641943T>A | CA432649126 | BTD | c.285T>A (p.Ile95=) n.1124T>A c.51T>A (p.Ile17=) c.345T>A (p.Ile115=) c.351T>A (p.Ile117=) c.63T>A (p.Ile21=) n.420T>A | |
| 3 | g.15641943T>C | CA432649127 | BTD | c.285T>C (p.Ile95=) n.1124T>C c.51T>C (p.Ile17=) c.345T>C (p.Ile115=) c.351T>C (p.Ile117=) c.63T>C (p.Ile21=) n.420T>C | |
| 3 | g.15641943T>G | CA351605157 | BTD | c.285T>G (p.Ile95Met) n.1124T>G c.51T>G (p.Ile17Met) c.345T>G (p.Ile115Met) c.351T>G (p.Ile117Met) c.63T>G (p.Ile21Met) n.420T>G | |
| 3 | g.15641944C>A | CA351605159 | BTD | c.286C>A (p.His96Asn) n.1125C>A c.52C>A (p.His18Asn) c.346C>A (p.His116Asn) c.352C>A (p.His118Asn) c.64C>A (p.His22Asn) n.421C>A | |
| 3 | g.15641944C= | CA1347644803 | BTD | c.286C= (p.His96=) n.1125C= c.52C= (p.His18=) c.346C= (p.His116=) c.352C= (p.His118=) c.64C= (p.His22=) n.421C= | |
| 3 | g.15641944C>G | CA351605161 | BTD | c.286C>G (p.His96Asp) n.1125C>G c.52C>G (p.His18Asp) c.346C>G (p.His116Asp) c.352C>G (p.His118Asp) c.64C>G (p.His22Asp) n.421C>G | |
| 3 | g.15641944C>T | CA2277298 | BTD | c.286C>T (p.His96Tyr) n.1125C>T c.52C>T (p.His18Tyr) c.346C>T (p.His116Tyr) c.352C>T (p.His118Tyr) c.64C>T (p.His22Tyr) n.421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15641945A>C | CA351605164 | BTD | c.287A>C (p.His96Pro) n.1126A>C c.53A>C (p.His18Pro) c.347A>C (p.His116Pro) c.353A>C (p.His118Pro) c.65A>C (p.His22Pro) n.422A>C | |
| 3 | g.15641945A>G | CA351605166 | BTD | c.287A>G (p.His96Arg) n.1126A>G c.53A>G (p.His18Arg) c.347A>G (p.His116Arg) c.353A>G (p.His118Arg) c.65A>G (p.His22Arg) n.422A>G | gnomAD v4 |
| 3 | g.15641945A>T | CA351605168 | BTD | c.287A>T (p.His96Leu) n.1126A>T c.53A>T (p.His18Leu) c.347A>T (p.His116Leu) c.353A>T (p.His118Leu) c.65A>T (p.His22Leu) n.422A>T | |
| 3 | g.15641946T>A | CA351605170 | BTD | c.288T>A (p.His96Gln) n.1127T>A c.54T>A (p.His18Gln) c.348T>A (p.His116Gln) c.354T>A (p.His118Gln) c.66T>A (p.His22Gln) n.423T>A | |
| 3 | g.15641946T>C | CA432649128 | BTD | c.288T>C (p.His96=) n.1127T>C c.54T>C (p.His18=) c.348T>C (p.His116=) c.354T>C (p.His118=) c.66T>C (p.His22=) n.423T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15641946T>G | CA351605172 | BTD | c.288T>G (p.His96Gln) n.1127T>G c.54T>G (p.His18Gln) c.348T>G (p.His116Gln) c.354T>G (p.His118Gln) c.66T>G (p.His22Gln) n.423T>G | |
| 3 | g.15641946T= | CA1347644805 | BTD | c.288T= (p.His96=) n.1127T= c.54T= (p.His18=) c.348T= (p.His116=) c.354T= (p.His118=) c.66T= (p.His22=) n.423T= | |
| 3 | g.15641947G>A | CA351605176 | BTD | c.289G>A (p.Gly97Arg) n.1128G>A c.55G>A (p.Gly19Arg) c.349G>A (p.Gly117Arg) c.355G>A (p.Gly119Arg) c.67G>A (p.Gly23Arg) n.424G>A | |
| 3 | g.15641947G>C | CA351605178 | BTD | c.289G>C (p.Gly97Arg) n.1128G>C c.55G>C (p.Gly19Arg) c.349G>C (p.Gly117Arg) c.355G>C (p.Gly119Arg) c.67G>C (p.Gly23Arg) n.424G>C | |
| 3 | g.15641947G>T | CA351605174 | BTD | c.289G>T (p.Gly97Ter) n.1128G>T c.55G>T (p.Gly19Ter) c.349G>T (p.Gly117Ter) c.355G>T (p.Gly119Ter) c.67G>T (p.Gly23Ter) n.424G>T | |
| 3 | g.15641948G>A | CA351605181 | BTD | c.290G>A (p.Gly97Glu) n.1129G>A c.56G>A (p.Gly19Glu) c.350G>A (p.Gly117Glu) c.356G>A (p.Gly119Glu) c.68G>A (p.Gly23Glu) n.425G>A | |
| 3 | g.15641948G>C | CA351605183 | BTD | c.290G>C (p.Gly97Ala) n.1129G>C c.56G>C (p.Gly19Ala) c.350G>C (p.Gly117Ala) c.356G>C (p.Gly119Ala) c.68G>C (p.Gly23Ala) n.425G>C | |
| 3 | g.15641948G>T | CA351605184 | BTD | c.290G>T (p.Gly97Val) n.1129G>T c.56G>T (p.Gly19Val) c.350G>T (p.Gly117Val) c.356G>T (p.Gly119Val) c.68G>T (p.Gly23Val) n.425G>T | |
| 3 | g.15641949A>C | CA432649129 | BTD | c.291A>C (p.Gly97=) n.1130A>C c.57A>C (p.Gly19=) c.351A>C (p.Gly117=) c.357A>C (p.Gly119=) c.69A>C (p.Gly23=) n.426A>C | |
| 3 | g.15641949A>G | CA432649131 | BTD | c.291A>G (p.Gly97=) n.1130A>G c.57A>G (p.Gly19=) c.351A>G (p.Gly117=) c.357A>G (p.Gly119=) c.69A>G (p.Gly23=) n.426A>G | ClinVar |
| 3 | g.15641949A>T | CA432649130 | BTD | c.291A>T (p.Gly97=) n.1130A>T c.57A>T (p.Gly19=) c.351A>T (p.Gly117=) c.357A>T (p.Gly119=) c.69A>T (p.Gly23=) n.426A>T | |
| 3 | g.15641950T>A | CA351605185 | BTD | c.292T>A (p.Phe98Ile) n.1131T>A c.58T>A (p.Phe20Ile) c.352T>A (p.Phe118Ile) c.358T>A (p.Phe120Ile) c.70T>A (p.Phe24Ile) n.427T>A | |
| 3 | g.15641950T>C | CA351605186 | BTD | c.292T>C (p.Phe98Leu) n.1131T>C c.58T>C (p.Phe20Leu) c.352T>C (p.Phe118Leu) c.358T>C (p.Phe120Leu) c.70T>C (p.Phe24Leu) n.427T>C | |
| 3 | g.15641950T>G | CA351605187 | BTD | c.292T>G (p.Phe98Val) n.1131T>G c.58T>G (p.Phe20Val) c.352T>G (p.Phe118Val) c.358T>G (p.Phe120Val) c.70T>G (p.Phe24Val) n.427T>G | |
| 3 | g.15641951T>A | CA351605189 | BTD | c.293T>A (p.Phe98Tyr) n.1132T>A c.59T>A (p.Phe20Tyr) c.353T>A (p.Phe118Tyr) c.359T>A (p.Phe120Tyr) c.71T>A (p.Phe24Tyr) n.428T>A | |
| 3 | g.15641951T>C | CA351605191 | BTD | c.293T>C (p.Phe98Ser) n.1132T>C c.59T>C (p.Phe20Ser) c.353T>C (p.Phe118Ser) c.359T>C (p.Phe120Ser) c.71T>C (p.Phe24Ser) n.428T>C | |
| 3 | g.15641951T>G | CA351605192 | BTD | c.293T>G (p.Phe98Cys) n.1132T>G c.59T>G (p.Phe20Cys) c.353T>G (p.Phe118Cys) c.359T>G (p.Phe120Cys) c.71T>G (p.Phe24Cys) n.428T>G | |
| 3 | g.15641952C>A | CA351605194 | BTD | c.294C>A (p.Phe98Leu) n.1133C>A c.60C>A (p.Phe20Leu) c.354C>A (p.Phe118Leu) c.360C>A (p.Phe120Leu) c.72C>A (p.Phe24Leu) n.429C>A | |
| 3 | g.15641952C>G | CA351605196 | BTD | c.294C>G (p.Phe98Leu) n.1133C>G c.60C>G (p.Phe20Leu) c.354C>G (p.Phe118Leu) c.360C>G (p.Phe120Leu) c.72C>G (p.Phe24Leu) n.429C>G | |
| 3 | g.15641952C>T | CA432649132 | BTD | c.294C>T (p.Phe98=) n.1133C>T c.60C>T (p.Phe20=) c.354C>T (p.Phe118=) c.360C>T (p.Phe120=) c.72C>T (p.Phe24=) n.429C>T | |
| 3 | g.15641953A>C | CA351605200 | BTD | c.295A>C (p.Asn99His) n.1134A>C c.61A>C (p.Asn21His) c.355A>C (p.Asn119His) c.361A>C (p.Asn121His) c.73A>C (p.Asn25His) n.430A>C | |
| 3 | g.15641953A>G | CA351605202 | BTD | c.295A>G (p.Asn99Asp) n.1134A>G c.61A>G (p.Asn21Asp) c.355A>G (p.Asn119Asp) c.361A>G (p.Asn121Asp) c.73A>G (p.Asn25Asp) n.430A>G | |
| 3 | g.15641953A>T | CA351605198 | BTD | c.295A>T (p.Asn99Tyr) n.1134A>T c.61A>T (p.Asn21Tyr) c.355A>T (p.Asn119Tyr) c.361A>T (p.Asn121Tyr) c.73A>T (p.Asn25Tyr) n.430A>T | |
| 3 | g.15641954A= | CA1347644808 | BTD | c.296A= (p.Asn99=) n.1135A= c.62A= (p.Asn21=) c.356A= (p.Asn119=) c.362A= (p.Asn121=) c.74A= (p.Asn25=) n.431A= | |
| 3 | g.15641954A>C | CA351605205 | BTD | c.296A>C (p.Asn99Thr) n.1135A>C c.62A>C (p.Asn21Thr) c.356A>C (p.Asn119Thr) c.362A>C (p.Asn121Thr) c.74A>C (p.Asn25Thr) n.431A>C | |
| 3 | g.15641954A>G | CA278193 | BTD | c.296A>G (p.Asn99Ser) n.1135A>G c.62A>G (p.Asn21Ser) c.356A>G (p.Asn119Ser) c.362A>G (p.Asn121Ser) c.74A>G (p.Asn25Ser) n.431A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15641954A>T | CA351605210 | BTD | c.296A>T (p.Asn99Ile) n.1135A>T c.62A>T (p.Asn21Ile) c.356A>T (p.Asn119Ile) c.362A>T (p.Asn121Ile) c.74A>T (p.Asn25Ile) n.431A>T | |
| 3 | g.15641955_15641964del | CA913203558 | BTD | c.297_306del (p.Asn99LysfsTer?) n.1136_1145del c.63_72del (p.Asn21LysfsTer?) c.357_366del (p.Asn119LysfsTer?) c.363_372del (p.Asn121LysfsTer?) c.75_84del (p.Asn25LysfsTer?) n.432_441del | |
| 3 | g.15641955C>A | CA351605213 | BTD | c.297C>A (p.Asn99Lys) n.1136C>A c.63C>A (p.Asn21Lys) c.357C>A (p.Asn119Lys) c.363C>A (p.Asn121Lys) c.75C>A (p.Asn25Lys) n.432C>A | |
| 3 | g.15641955C= | CA1347644814 | BTD | c.297C= (p.Asn99=) n.1136C= c.63C= (p.Asn21=) c.357C= (p.Asn119=) c.363C= (p.Asn121=) c.75C= (p.Asn25=) n.432C= | |
| 3 | g.15641955C>G | CA351605216 | BTD | c.297C>G (p.Asn99Lys) n.1136C>G c.63C>G (p.Asn21Lys) c.357C>G (p.Asn119Lys) c.363C>G (p.Asn121Lys) c.75C>G (p.Asn25Lys) n.432C>G | |
| 3 | g.15641955C>T | CA70619197 | BTD | c.297C>T (p.Asn99=) n.1136C>T c.63C>T (p.Asn21=) c.357C>T (p.Asn119=) c.363C>T (p.Asn121=) c.75C>T (p.Asn25=) n.432C>T | dbSNP gnomAD v4 |
| 3 | g.15641956T>A | CA351605224 | BTD | c.298T>A (p.Phe100Ile) n.1137T>A c.64T>A (p.Phe22Ile) c.358T>A (p.Phe120Ile) c.364T>A (p.Phe122Ile) c.76T>A (p.Phe26Ile) n.433T>A | |
| 3 | g.15641956T>C | CA351605219 | BTD | c.298T>C (p.Phe100Leu) n.1137T>C c.64T>C (p.Phe22Leu) c.358T>C (p.Phe120Leu) c.364T>C (p.Phe122Leu) c.76T>C (p.Phe26Leu) n.433T>C | |
| 3 | g.15641956T>G | CA351605222 | BTD | c.298T>G (p.Phe100Val) n.1137T>G c.64T>G (p.Phe22Val) c.358T>G (p.Phe120Val) c.364T>G (p.Phe122Val) c.76T>G (p.Phe26Val) n.433T>G | |
| 3 | g.15641957T>A | CA351605245 | BTD | c.299T>A (p.Phe100Tyr) n.1138T>A c.65T>A (p.Phe22Tyr) c.359T>A (p.Phe120Tyr) c.365T>A (p.Phe122Tyr) c.77T>A (p.Phe26Tyr) n.434T>A | |
| 3 | g.15641957T>C | CA351605247 | BTD | c.299T>C (p.Phe100Ser) n.1138T>C c.65T>C (p.Phe22Ser) c.359T>C (p.Phe120Ser) c.365T>C (p.Phe122Ser) c.77T>C (p.Phe26Ser) n.434T>C | gnomAD v4 |
| 3 | g.15641957T>G | CA351605249 | BTD | c.299T>G (p.Phe100Cys) n.1138T>G c.65T>G (p.Phe22Cys) c.359T>G (p.Phe120Cys) c.365T>G (p.Phe122Cys) c.77T>G (p.Phe26Cys) n.434T>G |