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 |
|---|---|---|---|---|---|
| 14 | g.64767729A= | CA2142797608 | SPTB | c.6153T= (p.His2051=) n.485T= c.2148T= (p.His716=) | |
| 14 | g.64767729A>C | CA262682718 | SPTB | c.6153T>G (p.His2051Gln) n.485T>G c.2148T>G (p.His716Gln) | dbSNP |
| 14 | g.64767729A>G | CA486735092 | SPTB | c.6153T>C (p.His2051=) n.485T>C c.2148T>C (p.His716=) | |
| 14 | g.64767729A>T | CA390039303 | SPTB | c.6153T>A (p.His2051Gln) n.485T>A c.2148T>A (p.His716Gln) | |
| 14 | g.64767730T>A | CA390039305 | SPTB | c.6152A>T (p.His2051Leu) n.484A>T c.2147A>T (p.His716Leu) | |
| 14 | g.64767730T>C | CA390039306 | SPTB | c.6152A>G (p.His2051Arg) n.484A>G c.2147A>G (p.His716Arg) | |
| 14 | g.64767730T>G | CA390039304 | SPTB | c.6152A>C (p.His2051Pro) n.484A>C c.2147A>C (p.His716Pro) | |
| 14 | g.64767731G>A | CA390039307 | SPTB | c.6151C>T (p.His2051Tyr) n.483C>T c.2146C>T (p.His716Tyr) | gnomAD v4 |
| 14 | g.64767731G>C | CA390039309 | SPTB | c.6151C>G (p.His2051Asp) n.483C>G c.2146C>G (p.His716Asp) | |
| 14 | g.64767731G>T | CA390039308 | SPTB | c.6151C>A (p.His2051Asn) n.483C>A c.2146C>A (p.His716Asn) | |
| 14 | g.64767732C>A | CA262682723 | SPTB | c.6150G>T (p.Arg2050Ser) n.482G>T c.2145G>T (p.Arg715Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767732C= | CA2142797611 | SPTB | c.6150G= (p.Arg2050=) n.482G= c.2145G= (p.Arg715=) | |
| 14 | g.64767732C>G | CA390039310 | SPTB | c.6150G>C (p.Arg2050Ser) n.482G>C c.2145G>C (p.Arg715Ser) | COSMIC |
| 14 | g.64767732C>T | CA486735093 | SPTB | c.6150G>A (p.Arg2050=) n.482G>A c.2145G>A (p.Arg715=) | dbSNP |
| 14 | g.64767733del | CA2625262833 | SPTB | c.6150del (p.Arg2050SerfsTer27) c.6150del (p.Arg2050SerfsTer?) n.482del c.2145del (p.Arg715SerfsTer27) | gnomAD v4 |
| 14 | g.64767733C>A | CA390039311 | SPTB | c.6149G>T (p.Arg2050Met) n.481G>T c.2144G>T (p.Arg715Met) | |
| 14 | g.64767733C>G | CA390039313 | SPTB | c.6149G>C (p.Arg2050Thr) n.481G>C c.2144G>C (p.Arg715Thr) | |
| 14 | g.64767733C>T | CA390039312 | SPTB | c.6149G>A (p.Arg2050Lys) n.481G>A c.2144G>A (p.Arg715Lys) | |
| 14 | g.64767734T>A | CA390039314 | SPTB | c.6148A>T (p.Arg2050Trp) n.480A>T c.2143A>T (p.Arg715Trp) | |
| 14 | g.64767734T>C | CA390039315 | SPTB | c.6148A>G (p.Arg2050Gly) n.480A>G c.2143A>G (p.Arg715Gly) | |
| 14 | g.64767734T>G | CA486735094 | SPTB | c.6148A>C (p.Arg2050=) n.480A>C c.2143A>C (p.Arg715=) | |
| 14 | g.64767735C>A | CA390039316 | SPTB | c.6147G>T (p.Lys2049Asn) n.479G>T c.2142G>T (p.Lys714Asn) | |
| 14 | g.64767735C>G | CA390039317 | SPTB | c.6147G>C (p.Lys2049Asn) n.479G>C c.2142G>C (p.Lys714Asn) | |
| 14 | g.64767735C>T | CA486735095 | SPTB | c.6147G>A (p.Lys2049=) n.479G>A c.2142G>A (p.Lys714=) | gnomAD v4 |
| 14 | g.64767736T>A | CA390039318 | SPTB | c.6146A>T (p.Lys2049Met) n.478A>T c.2141A>T (p.Lys714Met) | |
| 14 | g.64767736T>C | CA390039319 | SPTB | c.6146A>G (p.Lys2049Arg) n.478A>G c.2141A>G (p.Lys714Arg) | |
| 14 | g.64767736T>G | CA390039320 | SPTB | c.6146A>C (p.Lys2049Thr) n.478A>C c.2141A>C (p.Lys714Thr) | |
| 14 | g.64767737T>A | CA390039321 | SPTB | c.6145A>T (p.Lys2049Ter) n.477A>T c.2140A>T (p.Lys714Ter) | |
| 14 | g.64767737T>C | CA390039322 | SPTB | c.6145A>G (p.Lys2049Glu) n.477A>G c.2140A>G (p.Lys714Glu) | |
| 14 | g.64767737T>G | CA390039323 | SPTB | c.6145A>C (p.Lys2049Gln) n.477A>C c.2140A>C (p.Lys714Gln) | |
| 14 | g.64767738G>A | CA486735096 | SPTB | c.6144C>T (p.Ile2048=) n.476C>T c.2139C>T (p.Ile713=) | |
| 14 | g.64767738G>C | CA390039324 | SPTB | c.6144C>G (p.Ile2048Met) n.476C>G c.2139C>G (p.Ile713Met) | |
| 14 | g.64767738G>T | CA486735097 | SPTB | c.6144C>A (p.Ile2048=) n.476C>A c.2139C>A (p.Ile713=) | COSMIC COSMIC |
| 14 | g.64767739A>C | CA390039327 | SPTB | c.6143T>G (p.Ile2048Ser) n.475T>G c.2138T>G (p.Ile713Ser) | |
| 14 | g.64767739A>G | CA390039326 | SPTB | c.6143T>C (p.Ile2048Thr) n.475T>C c.2138T>C (p.Ile713Thr) | |
| 14 | g.64767739A>T | CA390039325 | SPTB | c.6143T>A (p.Ile2048Asn) n.475T>A c.2138T>A (p.Ile713Asn) | |
| 14 | g.64767740T>A | CA390039328 | SPTB | c.6142A>T (p.Ile2048Phe) n.474A>T c.2137A>T (p.Ile713Phe) | gnomAD v4 |
| 14 | g.64767740T>C | CA390039329 | SPTB | c.6142A>G (p.Ile2048Val) n.474A>G c.2137A>G (p.Ile713Val) | gnomAD v4 |
| 14 | g.64767740T>G | CA390039330 | SPTB | c.6142A>C (p.Ile2048Leu) n.474A>C c.2137A>C (p.Ile713Leu) | ClinVar gnomAD v4 |
| 14 | g.64767741G>A | CA7229753 | SPTB | c.6141C>T (p.Leu2047=) n.473C>T c.2136C>T (p.Leu712=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767741G>C | CA486735098 | SPTB | c.6141C>G (p.Leu2047=) n.473C>G c.2136C>G (p.Leu712=) | |
| 14 | g.64767741G= | CA2142797613 | SPTB | c.6141C= (p.Leu2047=) n.473C= c.2136C= (p.Leu712=) | |
| 14 | g.64767741G>T | CA486735099 | SPTB | c.6141C>A (p.Leu2047=) n.473C>A c.2136C>A (p.Leu712=) | gnomAD v4 |
| 14 | g.64767742A>C | CA390039331 | SPTB | c.6140T>G (p.Leu2047Arg) n.472T>G c.2135T>G (p.Leu712Arg) | |
| 14 | g.64767742A>G | CA390039332 | SPTB | c.6140T>C (p.Leu2047Pro) n.472T>C c.2135T>C (p.Leu712Pro) | |
| 14 | g.64767742A>T | CA390039333 | SPTB | c.6140T>A (p.Leu2047His) n.472T>A c.2135T>A (p.Leu712His) | |
| 14 | g.64767743G>A | CA390039334 | SPTB | c.6139C>T (p.Leu2047Phe) n.471C>T c.2134C>T (p.Leu712Phe) | |
| 14 | g.64767743G>C | CA390039335 | SPTB | c.6139C>G (p.Leu2047Val) n.471C>G c.2134C>G (p.Leu712Val) | |
| 14 | g.64767743G>T | CA390039336 | SPTB | c.6139C>A (p.Leu2047Ile) n.471C>A c.2134C>A (p.Leu712Ile) | |
| 14 | g.64767744C>A | CA390039337 | SPTB | c.6138G>T (p.Lys2046Asn) n.470G>T c.2133G>T (p.Lys711Asn) |