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 |
|---|---|---|---|---|---|
| 10 | g.123040605C>A | CA378618266 | ACADSB | c.443C>A (p.Thr148Lys) c.137C>A (p.Thr46Lys) n.460C>A | |
| 10 | g.123040605C= | CA1941714337 | ACADSB | c.443C= (p.Thr148=) c.137C= (p.Thr46=) n.460C= | |
| 10 | g.123040605C>G | CA378618269 | ACADSB | c.443C>G (p.Thr148Arg) c.137C>G (p.Thr46Arg) n.460C>G | |
| 10 | g.123040605C>T | CA120176 | ACADSB | c.443C>T (p.Thr148Ile) c.137C>T (p.Thr46Ile) n.460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.123040606A>C | CA471756704 | ACADSB | c.444A>C (p.Thr148=) c.138A>C (p.Thr46=) n.461A>C | gnomAD v4 |
| 10 | g.123040606A>G | CA471756705 | ACADSB | c.444A>G (p.Thr148=) c.138A>G (p.Thr46=) n.461A>G | |
| 10 | g.123040606A>T | CA471756706 | ACADSB | c.444A>T (p.Thr148=) c.138A>T (p.Thr46=) n.461A>T | COSMIC |
| 10 | g.123040607C>A | CA378618274 | ACADSB | c.445C>A (p.Leu149Met) c.139C>A (p.Leu47Met) n.462C>A | |
| 10 | g.123040607C= | CA1941714340 | ACADSB | c.445C= (p.Leu149=) c.139C= (p.Leu47=) n.462C= | |
| 10 | g.123040607C>G | CA378618272 | ACADSB | c.445C>G (p.Leu149Val) c.139C>G (p.Leu47Val) n.462C>G | |
| 10 | g.123040607C>T | CA471756707 | ACADSB | c.445C>T (p.Leu149=) c.139C>T (p.Leu47=) n.462C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.123040608T>A | CA378618278 | ACADSB | c.446T>A (p.Leu149Gln) c.140T>A (p.Leu47Gln) n.463T>A | |
| 10 | g.123040608T>C | CA378618280 | ACADSB | c.446T>C (p.Leu149Pro) c.140T>C (p.Leu47Pro) n.463T>C | |
| 10 | g.123040608T>G | CA378618282 | ACADSB | c.446T>G (p.Leu149Arg) c.140T>G (p.Leu47Arg) n.463T>G | |
| 10 | g.123040609G>A | CA471756709 | ACADSB | c.447G>A (p.Leu149=) c.141G>A (p.Leu47=) n.464G>A | |
| 10 | g.123040609G>C | CA471756710 | ACADSB | c.447G>C (p.Leu149=) c.141G>C (p.Leu47=) n.464G>C | |
| 10 | g.123040609G>T | CA471756711 | ACADSB | c.447G>T (p.Leu149=) c.141G>T (p.Leu47=) n.464G>T | |
| 10 | g.123040610A>C | CA378618284 | ACADSB | c.448A>C (p.Ile150Leu) c.142A>C (p.Ile48Leu) n.465A>C | |
| 10 | g.123040610A>G | CA378618286 | ACADSB | c.448A>G (p.Ile150Val) c.142A>G (p.Ile48Val) n.465A>G | |
| 10 | g.123040610A>T | CA378618288 | ACADSB | c.448A>T (p.Ile150Phe) c.142A>T (p.Ile48Phe) n.465A>T | |
| 10 | g.123040611T>A | CA378618293 | ACADSB | c.449T>A (p.Ile150Asn) c.143T>A (p.Ile48Asn) n.466T>A | |
| 10 | g.123040611T>C | CA378618298 | ACADSB | c.449T>C (p.Ile150Thr) c.143T>C (p.Ile48Thr) n.466T>C | |
| 10 | g.123040611T>G | CA378618294 | ACADSB | c.449T>G (p.Ile150Ser) c.143T>G (p.Ile48Ser) n.466T>G | |
| 10 | g.123040612T>A | CA471756713 | ACADSB | c.450T>A (p.Ile150=) c.144T>A (p.Ile48=) n.467T>A | |
| 10 | g.123040612T>C | CA471756714 | ACADSB | c.450T>C (p.Ile150=) c.144T>C (p.Ile48=) n.467T>C | |
| 10 | g.123040612T>G | CA378618300 | ACADSB | c.450T>G (p.Ile150Met) c.144T>G (p.Ile48Met) n.467T>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.123040612T= | CA1941714342 | ACADSB | c.450T= (p.Ile150=) c.144T= (p.Ile48=) n.467T= | |
| 10 | g.123040613A>C | CA471756715 | ACADSB | c.451A>C (p.Arg151=) c.145A>C (p.Arg49=) n.468A>C | |
| 10 | g.123040613A>G | CA378618302 | ACADSB | c.451A>G (p.Arg151Gly) c.145A>G (p.Arg49Gly) n.468A>G | |
| 10 | g.123040613A>T | CA378618303 | ACADSB | c.451A>T (p.Arg151Ter) c.145A>T (p.Arg49Ter) n.468A>T | |
| 10 | g.123040614G>A | CA5730710 | ACADSB | c.452G>A (p.Arg151Lys) c.146G>A (p.Arg49Lys) n.469G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.123040614G>C | CA378618307 | ACADSB | c.452G>C (p.Arg151Thr) c.146G>C (p.Arg49Thr) n.469G>C | |
| 10 | g.123040614G= | CA1941714346 | ACADSB | c.452G= (p.Arg151=) c.146G= (p.Arg49=) n.469G= | |
| 10 | g.123040614G>T | CA378618312 | ACADSB | c.452G>T (p.Arg151Ile) c.146G>T (p.Arg49Ile) n.469G>T | |
| 10 | g.123040615A>C | CA378618313 | ACADSB | c.453A>C (p.Arg151Ser) c.147A>C (p.Arg49Ser) n.470A>C | |
| 10 | g.123040615A>G | CA471756718 | ACADSB | c.453A>G (p.Arg151=) c.147A>G (p.Arg49=) n.470A>G | |
| 10 | g.123040615A>T | CA378618315 | ACADSB | c.453A>T (p.Arg151Ser) c.147A>T (p.Arg49Ser) n.470A>T | |
| 10 | g.123040616A= | CA1941714350 | ACADSB | c.454A= (p.Lys152=) c.148A= (p.Lys50=) n.471A= | |
| 10 | g.123040616A>C | CA378618318 | ACADSB | c.454A>C (p.Lys152Gln) c.148A>C (p.Lys50Gln) n.471A>C | |
| 10 | g.123040616A>G | CA378618324 | ACADSB | c.454A>G (p.Lys152Glu) c.148A>G (p.Lys50Glu) n.471A>G | |
| 10 | g.123040616A>T | CA5730711 | ACADSB | c.454A>T (p.Lys152Ter) c.148A>T (p.Lys50Ter) n.471A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.123040617A>C | CA378618329 | ACADSB | c.455A>C (p.Lys152Thr) c.149A>C (p.Lys50Thr) n.472A>C | gnomAD v4 |
| 10 | g.123040617A>G | CA378618331 | ACADSB | c.455A>G (p.Lys152Arg) c.149A>G (p.Lys50Arg) n.472A>G | |
| 10 | g.123040617A>T | CA378618330 | ACADSB | c.455A>T (p.Lys152Ile) c.149A>T (p.Lys50Ile) n.472A>T | |
| 10 | g.123040618A>C | CA378618335 | ACADSB | c.456A>C (p.Lys152Asn) c.150A>C (p.Lys50Asn) n.473A>C | |
| 10 | g.123040618A>G | CA471756723 | ACADSB | c.456A>G (p.Lys152=) c.150A>G (p.Lys50=) n.473A>G | |
| 10 | g.123040618A>T | CA378618336 | ACADSB | c.456A>T (p.Lys152Asn) c.150A>T (p.Lys50Asn) n.473A>T | |
| 10 | g.123040619C>A | CA378618338 | ACADSB | c.457C>A (p.His153Asn) c.151C>A (p.His51Asn) n.474C>A | |
| 10 | g.123040619C>G | CA378618339 | ACADSB | c.457C>G (p.His153Asp) c.151C>G (p.His51Asp) n.474C>G | |
| 10 | g.123040619C>T | CA378618340 | ACADSB | c.457C>T (p.His153Tyr) c.151C>T (p.His51Tyr) n.474C>T |