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 |
|---|---|---|---|---|---|
| 2 | g.26263380C>A | CA346104296 | HADHB | c.110C>A (p.Ala37Asp) n.1057C>A c.44C>A (p.Ala15Asp) c.80C>A (p.Ala27Asp) | gnomAD v4 |
| 2 | g.26263380C= | CA1239731777 | HADHB | c.110C= (p.Ala37=) n.1057C= c.44C= (p.Ala15=) c.80C= (p.Ala27=) | |
| 2 | g.26263380C>G | CA346104301 | HADHB | c.110C>G (p.Ala37Gly) n.1057C>G c.44C>G (p.Ala15Gly) c.80C>G (p.Ala27Gly) | |
| 2 | g.26263380C>T | CA346104298 | HADHB | c.110C>T (p.Ala37Val) n.1057C>T c.44C>T (p.Ala15Val) c.80C>T (p.Ala27Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26263381T>A | CA425204409 | HADHB | c.111T>A (p.Ala37=) n.1058T>A c.45T>A (p.Ala15=) c.81T>A (p.Ala27=) | |
| 2 | g.26263381T>C | CA425204411 | HADHB | c.111T>C (p.Ala37=) n.1058T>C c.45T>C (p.Ala15=) c.81T>C (p.Ala27=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26263381T>G | CA425204412 | HADHB | c.111T>G (p.Ala37=) n.1058T>G c.45T>G (p.Ala15=) c.81T>G (p.Ala27=) | |
| 2 | g.26263381T= | CA1239731778 | HADHB | c.111T= (p.Ala37=) n.1058T= c.45T= (p.Ala15=) c.81T= (p.Ala27=) | |
| 2 | g.26263382G>A | CA346104306 | HADHB | c.112G>A (p.Val38Ile) n.1059G>A c.46G>A (p.Val16Ile) c.82G>A (p.Val28Ile) | gnomAD v4 |
| 2 | g.26263382G>C | CA346104312 | HADHB | c.112G>C (p.Val38Leu) n.1059G>C c.46G>C (p.Val16Leu) c.82G>C (p.Val28Leu) | |
| 2 | g.26263382G= | CA1239731779 | HADHB | c.112G= (p.Val38=) n.1059G= c.46G= (p.Val16=) c.82G= (p.Val28=) | |
| 2 | g.26263382G>T | CA1560099 | HADHB | c.112G>T (p.Val38Phe) n.1059G>T c.46G>T (p.Val16Phe) c.82G>T (p.Val28Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26263383T>A | CA346104323 | HADHB | c.113T>A (p.Val38Asp) n.1060T>A c.47T>A (p.Val16Asp) c.83T>A (p.Val28Asp) | COSMIC |
| 2 | g.26263383T>C | CA346104324 | HADHB | c.113T>C (p.Val38Ala) n.1060T>C c.47T>C (p.Val16Ala) c.83T>C (p.Val28Ala) | |
| 2 | g.26263383T>G | CA346104325 | HADHB | c.113T>G (p.Val38Gly) n.1060T>G c.47T>G (p.Val16Gly) c.83T>G (p.Val28Gly) | |
| 2 | g.26263384C>A | CA425204416 | HADHB | c.114C>A (p.Val38=) n.1061C>A c.48C>A (p.Val16=) c.84C>A (p.Val28=) | gnomAD v4 |
| 2 | g.26263384C= | CA1239731780 | HADHB | c.114C= (p.Val38=) n.1061C= c.48C= (p.Val16=) c.84C= (p.Val28=) | |
| 2 | g.26263384C>G | CA425204417 | HADHB | c.114C>G (p.Val38=) n.1061C>G c.48C>G (p.Val16=) c.84C>G (p.Val28=) | |
| 2 | g.26263384C>T | CA44378530 | HADHB | c.114C>T (p.Val38=) n.1061C>T c.48C>T (p.Val16=) c.84C>T (p.Val28=) | dbSNP gnomAD v4 |
| 2 | g.26263385C>A | CA346104332 | HADHB | c.115C>A (p.Gln39Lys) n.1062C>A c.49C>A (p.Gln17Lys) c.85C>A (p.Gln29Lys) | gnomAD v4 |
| 2 | g.26263385C>G | CA346104335 | HADHB | c.115C>G (p.Gln39Glu) n.1062C>G c.49C>G (p.Gln17Glu) c.85C>G (p.Gln29Glu) | |
| 2 | g.26263385C>T | CA346104342 | HADHB | c.115C>T (p.Gln39Ter) n.1062C>T c.49C>T (p.Gln17Ter) c.85C>T (p.Gln29Ter) | |
| 2 | g.26263386A= | CA1239731781 | HADHB | c.116A= (p.Gln39=) n.1063A= c.50A= (p.Gln17=) c.86A= (p.Gln29=) | |
| 2 | g.26263386A>C | CA346104346 | HADHB | c.116A>C (p.Gln39Pro) n.1063A>C c.50A>C (p.Gln17Pro) c.86A>C (p.Gln29Pro) | |
| 2 | g.26263386A>G | CA1560100 | HADHB | c.116A>G (p.Gln39Arg) n.1063A>G c.50A>G (p.Gln17Arg) c.86A>G (p.Gln29Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26263386A>T | CA346104347 | HADHB | c.116A>T (p.Gln39Leu) n.1063A>T c.50A>T (p.Gln17Leu) c.86A>T (p.Gln29Leu) | |
| 2 | g.26263387G>A | CA425204423 | HADHB | c.117G>A (p.Gln39=) n.1064G>A c.51G>A (p.Gln17=) c.87G>A (p.Gln29=) | gnomAD v4 |
| 2 | g.26263387G>C | CA346104362 | HADHB | c.117G>C (p.Gln39His) n.1064G>C c.51G>C (p.Gln17His) c.87G>C (p.Gln29His) | |
| 2 | g.26263387G>T | CA346104350 | HADHB | c.117G>T (p.Gln39His) n.1064G>T c.51G>T (p.Gln17His) c.87G>T (p.Gln29His) | |
| 2 | g.26263388A>C | CA346104375 | HADHB | c.118A>C (p.Thr40Pro) n.1065A>C c.52A>C (p.Thr18Pro) c.88A>C (p.Thr30Pro) | |
| 2 | g.26263388A>G | CA346104376 | HADHB | c.118A>G (p.Thr40Ala) n.1065A>G c.52A>G (p.Thr18Ala) c.88A>G (p.Thr30Ala) | |
| 2 | g.26263388A>T | CA346104377 | HADHB | c.118A>T (p.Thr40Ser) n.1065A>T c.52A>T (p.Thr18Ser) c.88A>T (p.Thr30Ser) | gnomAD v4 |
| 2 | g.26263389C>A | CA346104380 | HADHB | c.119C>A (p.Thr40Asn) n.1066C>A c.53C>A (p.Thr18Asn) c.89C>A (p.Thr30Asn) | gnomAD v4 |
| 2 | g.26263389C>G | CA346104382 | HADHB | c.119C>G (p.Thr40Ser) n.1066C>G c.53C>G (p.Thr18Ser) c.89C>G (p.Thr30Ser) | |
| 2 | g.26263389C>T | CA346104384 | HADHB | c.119C>T (p.Thr40Ile) n.1066C>T c.53C>T (p.Thr18Ile) c.89C>T (p.Thr30Ile) | |
| 2 | g.26263390C>A | CA425204429 | HADHB | c.120C>A (p.Thr40=) n.1067C>A c.54C>A (p.Thr18=) c.90C>A (p.Thr30=) | |
| 2 | g.26263390C= | CA1239731782 | HADHB | c.120C= (p.Thr40=) n.1067C= c.54C= (p.Thr18=) c.90C= (p.Thr30=) | |
| 2 | g.26263390C>G | CA425204431 | HADHB | c.120C>G (p.Thr40=) n.1067C>G c.54C>G (p.Thr18=) c.90C>G (p.Thr30=) | |
| 2 | g.26263390C>T | CA425204432 | HADHB | c.120C>T (p.Thr40=) n.1067C>T c.54C>T (p.Thr18=) c.90C>T (p.Thr30=) | |
| 2 | g.26263391A>C | CA346104388 | HADHB | c.121A>C (p.Lys41Gln) n.1068A>C c.55A>C (p.Lys19Gln) c.91A>C (p.Lys31Gln) | |
| 2 | g.26263391A>G | CA346104389 | HADHB | c.121A>G (p.Lys41Glu) n.1068A>G c.55A>G (p.Lys19Glu) c.91A>G (p.Lys31Glu) | gnomAD v4 |
| 2 | g.26263391A>T | CA346104390 | HADHB | c.121A>T (p.Lys41Ter) n.1068A>T c.55A>T (p.Lys19Ter) c.91A>T (p.Lys31Ter) | |
| 2 | g.26263394dup | CA531385411 | HADHB | c.124dup (p.Thr42AsnfsTer?) n.1071dup c.58dup (p.Thr20AsnfsTer?) c.94dup (p.Thr32AsnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26263392A>C | CA346104392 | HADHB | c.122A>C (p.Lys41Thr) n.1069A>C c.56A>C (p.Lys19Thr) c.92A>C (p.Lys31Thr) | |
| 2 | g.26263392A>G | CA346104393 | HADHB | c.122A>G (p.Lys41Arg) n.1069A>G c.56A>G (p.Lys19Arg) c.92A>G (p.Lys31Arg) | |
| 2 | g.26263392A>T | CA346104397 | HADHB | c.122A>T (p.Lys41Ile) n.1069A>T c.56A>T (p.Lys19Ile) c.92A>T (p.Lys31Ile) | |
| 2 | g.26263393A>C | CA346104400 | HADHB | c.123A>C (p.Lys41Asn) n.1070A>C c.57A>C (p.Lys19Asn) c.93A>C (p.Lys31Asn) | |
| 2 | g.26263393A>G | CA425204439 | HADHB | c.123A>G (p.Lys41=) n.1070A>G c.57A>G (p.Lys19=) c.93A>G (p.Lys31=) | |
| 2 | g.26263393A>T | CA346104403 | HADHB | c.123A>T (p.Lys41Asn) n.1070A>T c.57A>T (p.Lys19Asn) c.93A>T (p.Lys31Asn) | |
| 2 | g.26263394A= | CA1239731783 | HADHB | c.124A= (p.Thr42=) n.1071A= c.58A= (p.Thr20=) c.94A= (p.Thr32=) |