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 |
|---|---|---|---|---|---|
| 4 | g.186196940_186196976del | CA2695204073 | CYP4V2 | c.414_450del (p.Ser138ArgfsTer14) n.853_889del c.18_54del (p.Ser6ArgfsTer14) | |
| 4 | g.186196958C>A | CA442638854 | CYP4V2 | c.432C>A (p.Arg144=) n.871C>A c.36C>A (p.Arg12=) | |
| 4 | g.186196958C>G | CA442638855 | CYP4V2 | c.432C>G (p.Arg144=) n.871C>G c.36C>G (p.Arg12=) | |
| 4 | g.186196958C>T | CA442638856 | CYP4V2 | c.432C>T (p.Arg144=) n.871C>T c.36C>T (p.Arg12=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.186196959T>A | CA358947279 | CYP4V2 | c.433T>A (p.Ser145Thr) n.872T>A c.37T>A (p.Ser13Thr) | |
| 4 | g.186196959T>C | CA358947280 | CYP4V2 | c.433T>C (p.Ser145Pro) n.872T>C c.37T>C (p.Ser13Pro) | |
| 4 | g.186196959T>G | CA358947281 | CYP4V2 | c.433T>G (p.Ser145Ala) n.872T>G c.37T>G (p.Ser13Ala) | |
| 4 | g.186196960C>A | CA358947282 | CYP4V2 | c.434C>A (p.Ser145Tyr) n.873C>A c.38C>A (p.Ser13Tyr) | |
| 4 | g.186196960C= | CA1519918322 | CYP4V2 | c.434C= (p.Ser145=) n.873C= c.38C= (p.Ser13=) | |
| 4 | g.186196960C>G | CA358947283 | CYP4V2 | c.434C>G (p.Ser145Cys) n.873C>G c.38C>G (p.Ser13Cys) | |
| 4 | g.186196960C>T | CA358947284 | CYP4V2 | c.434C>T (p.Ser145Phe) n.873C>T c.38C>T (p.Ser13Phe) | dbSNP COSMIC |
| 4 | g.186196961C>A | CA442638857 | CYP4V2 | c.435C>A (p.Ser145=) n.874C>A c.39C>A (p.Ser13=) | |
| 4 | g.186196961C>G | CA442638859 | CYP4V2 | c.435C>G (p.Ser145=) n.874C>G c.39C>G (p.Ser13=) | |
| 4 | g.186196961C>T | CA442638858 | CYP4V2 | c.435C>T (p.Ser145=) n.874C>T c.39C>T (p.Ser13=) | gnomAD v4 |
| 4 | g.186196962A>C | CA442638860 | CYP4V2 | c.436A>C (p.Arg146=) n.875A>C c.40A>C (p.Arg14=) | |
| 4 | g.186196962A>G | CA358947285 | CYP4V2 | c.436A>G (p.Arg146Gly) n.875A>G c.40A>G (p.Arg14Gly) | |
| 4 | g.186196962A>T | CA358947286 | CYP4V2 | c.436A>T (p.Arg146Trp) n.875A>T c.40A>T (p.Arg14Trp) | |
| 4 | g.186196963G>A | CA3162562 | CYP4V2 | c.437G>A (p.Arg146Lys) n.876G>A c.41G>A (p.Arg14Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186196963G>C | CA358947287 | CYP4V2 | c.437G>C (p.Arg146Thr) n.876G>C c.41G>C (p.Arg14Thr) | |
| 4 | g.186196963G= | CA1519918326 | CYP4V2 | c.437G= (p.Arg146=) n.876G= c.41G= (p.Arg14=) | |
| 4 | g.186196963G>T | CA358947288 | CYP4V2 | c.437G>T (p.Arg146Met) n.876G>T c.41G>T (p.Arg14Met) | |
| 4 | g.186196964G>A | CA442638861 | CYP4V2 | c.438G>A (p.Arg146=) n.877G>A c.42G>A (p.Arg14=) | |
| 4 | g.186196964G>C | CA358947289 | CYP4V2 | c.438G>C (p.Arg146Ser) n.877G>C c.42G>C (p.Arg14Ser) | |
| 4 | g.186196964G>T | CA358947290 | CYP4V2 | c.438G>T (p.Arg146Ser) n.877G>T c.42G>T (p.Arg14Ser) | |
| 4 | g.186196965A>C | CA442638862 | CYP4V2 | c.439A>C (p.Arg147=) n.878A>C c.43A>C (p.Arg15=) | |
| 4 | g.186196965A>G | CA358947291 | CYP4V2 | c.439A>G (p.Arg147Gly) n.878A>G c.43A>G (p.Arg15Gly) | |
| 4 | g.186196965A>T | CA358947292 | CYP4V2 | c.439A>T (p.Arg147Ter) n.878A>T c.43A>T (p.Arg15Ter) | |
| 4 | g.186196966G>A | CA358947293 | CYP4V2 | c.440G>A (p.Arg147Lys) n.879G>A c.44G>A (p.Arg15Lys) | |
| 4 | g.186196966G>C | CA358947294 | CYP4V2 | c.440G>C (p.Arg147Thr) n.879G>C c.44G>C (p.Arg15Thr) | dbSNP |
| 4 | g.186196966G>T | CA358947295 | CYP4V2 | c.440G>T (p.Arg147Ile) n.879G>T c.44G>T (p.Arg15Ile) | |
| 4 | g.186196967A>C | CA358947296 | CYP4V2 | c.441A>C (p.Arg147Ser) n.880A>C c.45A>C (p.Arg15Ser) | |
| 4 | g.186196967A>G | CA442638863 | CYP4V2 | c.441A>G (p.Arg147=) n.880A>G c.45A>G (p.Arg15=) | |
| 4 | g.186196967A>T | CA358947297 | CYP4V2 | c.441A>T (p.Arg147Ser) n.880A>T c.45A>T (p.Arg15Ser) | |
| 4 | g.186196968A>C | CA358947298 | CYP4V2 | c.442A>C (p.Lys148Gln) n.881A>C c.46A>C (p.Lys16Gln) | |
| 4 | g.186196968A>G | CA358947299 | CYP4V2 | c.442A>G (p.Lys148Glu) n.881A>G c.46A>G (p.Lys16Glu) | gnomAD v4 |
| 4 | g.186196968A>T | CA358947300 | CYP4V2 | c.442A>T (p.Lys148Ter) n.881A>T c.46A>T (p.Lys16Ter) | |
| 4 | g.186196969A= | CA1519918332 | CYP4V2 | c.443A= (p.Lys148=) n.882A= c.47A= (p.Lys16=) | |
| 4 | g.186196969A>C | CA358947301 | CYP4V2 | c.443A>C (p.Lys148Thr) n.882A>C c.47A>C (p.Lys16Thr) | |
| 4 | g.186196969A>G | CA358947302 | CYP4V2 | c.443A>G (p.Lys148Arg) n.882A>G c.47A>G (p.Lys16Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186196969A>T | CA358947303 | CYP4V2 | c.443A>T (p.Lys148Met) n.882A>T c.47A>T (p.Lys16Met) | |
| 4 | g.186196970G>A | CA442638864 | CYP4V2 | c.444G>A (p.Lys148=) n.883G>A c.48G>A (p.Lys16=) | |
| 4 | g.186196970G>C | CA358947304 | CYP4V2 | c.444G>C (p.Lys148Asn) n.883G>C c.48G>C (p.Lys16Asn) | |
| 4 | g.186196970G>T | CA358947305 | CYP4V2 | c.444G>T (p.Lys148Asn) n.883G>T c.48G>T (p.Lys16Asn) | |
| 4 | g.186196971A= | CA1519918333 | CYP4V2 | c.445A= (p.Met149=) n.884A= c.49A= (p.Met17=) | |
| 4 | g.186196971A>C | CA358947306 | CYP4V2 | c.445A>C (p.Met149Leu) n.884A>C c.49A>C (p.Met17Leu) | |
| 4 | g.186196971A>G | CA358947308 | CYP4V2 | c.445A>G (p.Met149Val) n.884A>G c.49A>G (p.Met17Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186196971A>T | CA358947307 | CYP4V2 | c.445A>T (p.Met149Leu) n.884A>T c.49A>T (p.Met17Leu) | gnomAD v4 |
| 4 | g.186196972T>A | CA358947309 | CYP4V2 | c.446T>A (p.Met149Lys) n.885T>A c.50T>A (p.Met17Lys) | |
| 4 | g.186196972T>C | CA358947310 | CYP4V2 | c.446T>C (p.Met149Thr) n.885T>C c.50T>C (p.Met17Thr) | gnomAD v4 |
| 4 | g.186196972T>G | CA358947311 | CYP4V2 | c.446T>G (p.Met149Arg) n.885T>G c.50T>G (p.Met17Arg) |