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.15644381A>C | CA432819082 | BTD | c.465A>C (p.Thr155=) c.399+2324A>C (n.399+2324A>C) c.165+2324A>C (n.165+2324A>C) c.525A>C (p.Thr175=) c.531A>C (p.Thr177=) c.243A>C (p.Thr81=) c.*2243A>C (n.*2243A>C) | |
| 3 | g.15644381A>G | CA432819083 | BTD | c.465A>G (p.Thr155=) c.399+2324A>G (n.399+2324A>G) c.165+2324A>G (n.165+2324A>G) c.525A>G (p.Thr175=) c.531A>G (p.Thr177=) c.243A>G (p.Thr81=) c.*2243A>G (n.*2243A>G) | |
| 3 | g.15644381A>T | CA432819085 | BTD | c.465A>T (p.Thr155=) c.399+2324A>T (n.399+2324A>T) c.165+2324A>T (n.165+2324A>T) c.525A>T (p.Thr175=) c.531A>T (p.Thr177=) c.243A>T (p.Thr81=) c.*2243A>T (n.*2243A>T) | |
| 3 | g.15644382A>C | CA351606276 | BTD | c.466A>C (p.Lys156Gln) c.399+2325A>C (n.399+2325A>C) c.165+2325A>C (n.165+2325A>C) c.526A>C (p.Lys176Gln) c.532A>C (p.Lys178Gln) c.244A>C (p.Lys82Gln) c.*2244A>C (n.*2244A>C) | gnomAD v4 |
| 3 | g.15644382A>G | CA351606277 | BTD | c.466A>G (p.Lys156Glu) c.399+2325A>G (n.399+2325A>G) c.165+2325A>G (n.165+2325A>G) c.526A>G (p.Lys176Glu) c.532A>G (p.Lys178Glu) c.244A>G (p.Lys82Glu) c.*2244A>G (n.*2244A>G) | gnomAD v4 |
| 3 | g.15644382A>T | CA351606278 | BTD | c.466A>T (p.Lys156Ter) c.399+2325A>T (n.399+2325A>T) c.165+2325A>T (n.165+2325A>T) c.526A>T (p.Lys176Ter) c.532A>T (p.Lys178Ter) c.244A>T (p.Lys82Ter) c.*2244A>T (n.*2244A>T) | ClinVar |
| 3 | g.15644383A>C | CA351606279 | BTD | c.467A>C (p.Lys156Thr) c.399+2326A>C (n.399+2326A>C) c.165+2326A>C (n.165+2326A>C) c.527A>C (p.Lys176Thr) c.533A>C (p.Lys178Thr) c.245A>C (p.Lys82Thr) c.*2245A>C (n.*2245A>C) | |
| 3 | g.15644383A>G | CA351606280 | BTD | c.467A>G (p.Lys156Arg) c.399+2326A>G (n.399+2326A>G) c.165+2326A>G (n.165+2326A>G) c.527A>G (p.Lys176Arg) c.533A>G (p.Lys178Arg) c.245A>G (p.Lys82Arg) c.*2245A>G (n.*2245A>G) | |
| 3 | g.15644383A>T | CA351606281 | BTD | c.467A>T (p.Lys156Met) c.399+2326A>T (n.399+2326A>T) c.165+2326A>T (n.165+2326A>T) c.527A>T (p.Lys176Met) c.533A>T (p.Lys178Met) c.245A>T (p.Lys82Met) c.*2245A>T (n.*2245A>T) | |
| 3 | g.15644384G>A | CA432819097 | BTD | c.468G>A (p.Lys156=) c.399+2327G>A (n.399+2327G>A) c.165+2327G>A (n.165+2327G>A) c.528G>A (p.Lys176=) c.534G>A (p.Lys178=) c.246G>A (p.Lys82=) c.*2246G>A (n.*2246G>A) | |
| 3 | g.15644384G>C | CA351606282 | BTD | c.468G>C (p.Lys156Asn) c.399+2327G>C (n.399+2327G>C) c.165+2327G>C (n.165+2327G>C) c.528G>C (p.Lys176Asn) c.534G>C (p.Lys178Asn) c.246G>C (p.Lys82Asn) c.*2246G>C (n.*2246G>C) | |
| 3 | g.15644384G= | CA1347663596 | BTD | c.468G= (p.Lys156=) c.399+2327G= (n.399+2327G=) c.165+2327G= (n.165+2327G=) c.528G= (p.Lys176=) c.534G= (p.Lys178=) c.246G= (p.Lys82=) c.*2246G= (n.*2246G=) | |
| 3 | g.15644384G>T | CA220325 | BTD | c.468G>T (p.Lys156Asn) c.399+2327G>T (n.399+2327G>T) c.165+2327G>T (n.165+2327G>T) c.528G>T (p.Lys176Asn) c.534G>T (p.Lys178Asn) c.246G>T (p.Lys82Asn) c.*2246G>T (n.*2246G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644385del | CA2577522745 | BTD | c.469del (p.Glu157SerfsTer?) c.399+2328del (n.399+2328del) c.165+2328del (n.165+2328del) c.529del (p.Glu177SerfsTer?) c.535del (p.Glu179SerfsTer?) c.247del (p.Glu83SerfsTer?) c.*2247del (n.*2247del) | |
| 3 | g.15644385G>A | CA351606283 | BTD | c.469G>A (p.Glu157Lys) c.399+2328G>A (n.399+2328G>A) c.165+2328G>A (n.165+2328G>A) c.529G>A (p.Glu177Lys) c.535G>A (p.Glu179Lys) c.247G>A (p.Glu83Lys) c.*2247G>A (n.*2247G>A) | dbSNP gnomAD v4 |
| 3 | g.15644385G>C | CA351606284 | BTD | c.469G>C (p.Glu157Gln) c.399+2328G>C (n.399+2328G>C) c.165+2328G>C (n.165+2328G>C) c.529G>C (p.Glu177Gln) c.535G>C (p.Glu179Gln) c.247G>C (p.Glu83Gln) c.*2247G>C (n.*2247G>C) | dbSNP |
| 3 | g.15644385G= | CA1347663599 | BTD | c.469G= (p.Glu157=) c.399+2328G= (n.399+2328G=) c.165+2328G= (n.165+2328G=) c.529G= (p.Glu177=) c.535G= (p.Glu179=) c.247G= (p.Glu83=) c.*2247G= (n.*2247G=) | |
| 3 | g.15644385G>T | CA351606285 | BTD | c.469G>T (p.Glu157Ter) c.399+2328G>T (n.399+2328G>T) c.165+2328G>T (n.165+2328G>T) c.529G>T (p.Glu177Ter) c.535G>T (p.Glu179Ter) c.247G>T (p.Glu83Ter) c.*2247G>T (n.*2247G>T) | gnomAD v4 |
| 3 | g.15644386A>C | CA351606287 | BTD | c.470A>C (p.Glu157Ala) c.399+2329A>C (n.399+2329A>C) c.165+2329A>C (n.165+2329A>C) c.530A>C (p.Glu177Ala) c.536A>C (p.Glu179Ala) c.248A>C (p.Glu83Ala) c.*2248A>C (n.*2248A>C) | |
| 3 | g.15644386A>G | CA351606290 | BTD | c.470A>G (p.Glu157Gly) c.399+2329A>G (n.399+2329A>G) c.165+2329A>G (n.165+2329A>G) c.530A>G (p.Glu177Gly) c.536A>G (p.Glu179Gly) c.248A>G (p.Glu83Gly) c.*2248A>G (n.*2248A>G) | |
| 3 | g.15644386A>T | CA351606289 | BTD | c.470A>T (p.Glu157Val) c.399+2329A>T (n.399+2329A>T) c.165+2329A>T (n.165+2329A>T) c.530A>T (p.Glu177Val) c.536A>T (p.Glu179Val) c.248A>T (p.Glu83Val) c.*2248A>T (n.*2248A>T) | |
| 3 | g.15644387G>A | CA432819100 | BTD | c.471G>A (p.Glu157=) c.399+2330G>A (n.399+2330G>A) c.165+2330G>A (n.165+2330G>A) c.531G>A (p.Glu177=) c.537G>A (p.Glu179=) c.249G>A (p.Glu83=) c.*2249G>A (n.*2249G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644387G>C | CA351606291 | BTD | c.471G>C (p.Glu157Asp) c.399+2330G>C (n.399+2330G>C) c.165+2330G>C (n.165+2330G>C) c.531G>C (p.Glu177Asp) c.537G>C (p.Glu179Asp) c.249G>C (p.Glu83Asp) c.*2249G>C (n.*2249G>C) | |
| 3 | g.15644387G= | CA1347663600 | BTD | c.471G= (p.Glu157=) c.399+2330G= (n.399+2330G=) c.165+2330G= (n.165+2330G=) c.531G= (p.Glu177=) c.537G= (p.Glu179=) c.249G= (p.Glu83=) c.*2249G= (n.*2249G=) | |
| 3 | g.15644387G>T | CA351606292 | BTD | c.471G>T (p.Glu157Asp) c.399+2330G>T (n.399+2330G>T) c.165+2330G>T (n.165+2330G>T) c.531G>T (p.Glu177Asp) c.537G>T (p.Glu179Asp) c.249G>T (p.Glu83Asp) c.*2249G>T (n.*2249G>T) | |
| 3 | g.15644388C>A | CA351606293 | BTD | c.472C>A (p.Pro158Thr) c.399+2331C>A (n.399+2331C>A) c.165+2331C>A (n.165+2331C>A) c.532C>A (p.Pro178Thr) c.538C>A (p.Pro180Thr) c.250C>A (p.Pro84Thr) c.*2250C>A (n.*2250C>A) | |
| 3 | g.15644388C>G | CA351606294 | BTD | c.472C>G (p.Pro158Ala) c.399+2331C>G (n.399+2331C>G) c.165+2331C>G (n.165+2331C>G) c.532C>G (p.Pro178Ala) c.538C>G (p.Pro180Ala) c.250C>G (p.Pro84Ala) c.*2250C>G (n.*2250C>G) | |
| 3 | g.15644388C>T | CA351606295 | BTD | c.472C>T (p.Pro158Ser) c.399+2331C>T (n.399+2331C>T) c.165+2331C>T (n.165+2331C>T) c.532C>T (p.Pro178Ser) c.538C>T (p.Pro180Ser) c.250C>T (p.Pro84Ser) c.*2250C>T (n.*2250C>T) | |
| 3 | g.15644389C>A | CA351606296 | BTD | c.473C>A (p.Pro158His) c.399+2332C>A (n.399+2332C>A) c.165+2332C>A (n.165+2332C>A) c.533C>A (p.Pro178His) c.539C>A (p.Pro180His) c.251C>A (p.Pro84His) c.*2251C>A (n.*2251C>A) | |
| 3 | g.15644389C>G | CA351606297 | BTD | c.473C>G (p.Pro158Arg) c.399+2332C>G (n.399+2332C>G) c.165+2332C>G (n.165+2332C>G) c.533C>G (p.Pro178Arg) c.539C>G (p.Pro180Arg) c.251C>G (p.Pro84Arg) c.*2251C>G (n.*2251C>G) | gnomAD v4 |
| 3 | g.15644389C>T | CA351606298 | BTD | c.473C>T (p.Pro158Leu) c.399+2332C>T (n.399+2332C>T) c.165+2332C>T (n.165+2332C>T) c.533C>T (p.Pro178Leu) c.539C>T (p.Pro180Leu) c.251C>T (p.Pro84Leu) c.*2251C>T (n.*2251C>T) | |
| 3 | g.15644390T>A | CA432819107 | BTD | c.474T>A (p.Pro158=) c.399+2333T>A (n.399+2333T>A) c.165+2333T>A (n.165+2333T>A) c.534T>A (p.Pro178=) c.540T>A (p.Pro180=) c.252T>A (p.Pro84=) c.*2252T>A (n.*2252T>A) | |
| 3 | g.15644390T>C | CA432819108 | BTD | c.474T>C (p.Pro158=) c.399+2333T>C (n.399+2333T>C) c.165+2333T>C (n.165+2333T>C) c.534T>C (p.Pro178=) c.540T>C (p.Pro180=) c.252T>C (p.Pro84=) c.*2252T>C (n.*2252T>C) | |
| 3 | g.15644390T>G | CA432819109 | BTD | c.474T>G (p.Pro158=) c.399+2333T>G (n.399+2333T>G) c.165+2333T>G (n.165+2333T>G) c.534T>G (p.Pro178=) c.540T>G (p.Pro180=) c.252T>G (p.Pro84=) c.*2252T>G (n.*2252T>G) | |
| 3 | g.15644391T>A | CA351606299 | BTD | c.475T>A (p.Cys159Ser) c.399+2334T>A (n.399+2334T>A) c.165+2334T>A (n.165+2334T>A) c.535T>A (p.Cys179Ser) c.541T>A (p.Cys181Ser) c.253T>A (p.Cys85Ser) c.*2253T>A (n.*2253T>A) | |
| 3 | g.15644391T>C | CA351606300 | BTD | c.475T>C (p.Cys159Arg) c.399+2334T>C (n.399+2334T>C) c.165+2334T>C (n.165+2334T>C) c.535T>C (p.Cys179Arg) c.541T>C (p.Cys181Arg) c.253T>C (p.Cys85Arg) c.*2253T>C (n.*2253T>C) | |
| 3 | g.15644391T>G | CA351606301 | BTD | c.475T>G (p.Cys159Gly) c.399+2334T>G (n.399+2334T>G) c.165+2334T>G (n.165+2334T>G) c.535T>G (p.Cys179Gly) c.541T>G (p.Cys181Gly) c.253T>G (p.Cys85Gly) c.*2253T>G (n.*2253T>G) | |
| 3 | g.15644392G>A | CA351606303 | BTD | c.476G>A (p.Cys159Tyr) c.399+2335G>A (n.399+2335G>A) c.165+2335G>A (n.165+2335G>A) c.536G>A (p.Cys179Tyr) c.542G>A (p.Cys181Tyr) c.254G>A (p.Cys85Tyr) c.*2254G>A (n.*2254G>A) | |
| 3 | g.15644392G>C | CA351606304 | BTD | c.476G>C (p.Cys159Ser) c.399+2335G>C (n.399+2335G>C) c.165+2335G>C (n.165+2335G>C) c.536G>C (p.Cys179Ser) c.542G>C (p.Cys181Ser) c.254G>C (p.Cys85Ser) c.*2254G>C (n.*2254G>C) | |
| 3 | g.15644392G>T | CA351606302 | BTD | c.476G>T (p.Cys159Phe) c.399+2335G>T (n.399+2335G>T) c.165+2335G>T (n.165+2335G>T) c.536G>T (p.Cys179Phe) c.542G>T (p.Cys181Phe) c.254G>T (p.Cys85Phe) c.*2254G>T (n.*2254G>T) | |
| 3 | g.15644393T>A | CA351606305 | BTD | c.477T>A (p.Cys159Ter) c.399+2336T>A (n.399+2336T>A) c.165+2336T>A (n.165+2336T>A) c.537T>A (p.Cys179Ter) c.543T>A (p.Cys181Ter) c.255T>A (p.Cys85Ter) c.*2255T>A (n.*2255T>A) | |
| 3 | g.15644393T>C | CA432819111 | BTD | c.477T>C (p.Cys159=) c.399+2336T>C (n.399+2336T>C) c.165+2336T>C (n.165+2336T>C) c.537T>C (p.Cys179=) c.543T>C (p.Cys181=) c.255T>C (p.Cys85=) c.*2255T>C (n.*2255T>C) | |
| 3 | g.15644393T>G | CA351606306 | BTD | c.477T>G (p.Cys159Trp) c.399+2336T>G (n.399+2336T>G) c.165+2336T>G (n.165+2336T>G) c.537T>G (p.Cys179Trp) c.543T>G (p.Cys181Trp) c.255T>G (p.Cys85Trp) c.*2255T>G (n.*2255T>G) | |
| 3 | g.15644393_15644394delinsAA | CA2573136159 | BTD | c.477_478delinsAA (p.Cys159Ter) c.399+2336_399+2337delinsAA (n.399+2336_399+2337delinsAA) c.165+2336_165+2337delinsAA (n.165+2336_165+2337delinsAA) c.537_538delinsAA (p.Cys179Ter) c.543_544delinsAA (p.Cys181Ter) c.255_256delinsAA (p.Cys85Ter) c.*2255_*2256delinsAA (n.*2255_*2256delinsAA) | ClinVar dbSNP |
| 3 | g.15644394C>A | CA351606307 | BTD | c.478C>A (p.His160Asn) c.399+2337C>A (n.399+2337C>A) c.165+2337C>A (n.165+2337C>A) c.538C>A (p.His180Asn) c.544C>A (p.His182Asn) c.256C>A (p.His86Asn) c.*2256C>A (n.*2256C>A) | |
| 3 | g.15644394C>G | CA351606308 | BTD | c.478C>G (p.His160Asp) c.399+2337C>G (n.399+2337C>G) c.165+2337C>G (n.165+2337C>G) c.538C>G (p.His180Asp) c.544C>G (p.His182Asp) c.256C>G (p.His86Asp) c.*2256C>G (n.*2256C>G) | |
| 3 | g.15644394C>T | CA351606309 | BTD | c.478C>T (p.His160Tyr) c.399+2337C>T (n.399+2337C>T) c.165+2337C>T (n.165+2337C>T) c.538C>T (p.His180Tyr) c.544C>T (p.His182Tyr) c.256C>T (p.His86Tyr) c.*2256C>T (n.*2256C>T) | |
| 3 | g.15644395A= | CA1347663603 | BTD | c.479A= (p.His160=) c.399+2338A= (n.399+2338A=) c.165+2338A= (n.165+2338A=) c.539A= (p.His180=) c.545A= (p.His182=) c.257A= (p.His86=) c.*2257A= (n.*2257A=) | |
| 3 | g.15644395A>C | CA351606310 | BTD | c.479A>C (p.His160Pro) c.399+2338A>C (n.399+2338A>C) c.165+2338A>C (n.165+2338A>C) c.539A>C (p.His180Pro) c.545A>C (p.His182Pro) c.257A>C (p.His86Pro) c.*2257A>C (n.*2257A>C) | |
| 3 | g.15644395A>G | CA2277339 | BTD | c.479A>G (p.His160Arg) c.399+2338A>G (n.399+2338A>G) c.165+2338A>G (n.165+2338A>G) c.539A>G (p.His180Arg) c.545A>G (p.His182Arg) c.257A>G (p.His86Arg) c.*2257A>G (n.*2257A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |