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 |
|---|---|---|---|---|---|
| 15 | g.38351178T>A | CA490011849 | SPRED1 | c.849T>A (p.Ser283=) c.885T>A (p.Ser295=) c.627T>A (p.Ser209=) c.786T>A (p.Ser262=) | |
| 15 | g.38351178T>C | CA490011850 | SPRED1 | c.849T>C (p.Ser283=) c.885T>C (p.Ser295=) c.627T>C (p.Ser209=) c.786T>C (p.Ser262=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351178T>G | CA490011851 | SPRED1 | c.849T>G (p.Ser283=) c.885T>G (p.Ser295=) c.627T>G (p.Ser209=) c.786T>G (p.Ser262=) | dbSNP gnomAD v4 |
| 15 | g.38351178T= | CA2170812602 | SPRED1 | c.849T= (p.Ser283=) c.885T= (p.Ser295=) c.627T= (p.Ser209=) c.786T= (p.Ser262=) | |
| 15 | g.38351179A>C | CA391933391 | SPRED1 | c.850A>C (p.Lys284Gln) c.886A>C (p.Lys296Gln) c.628A>C (p.Lys210Gln) c.787A>C (p.Lys263Gln) | |
| 15 | g.38351179A>G | CA391933390 | SPRED1 | c.850A>G (p.Lys284Glu) c.886A>G (p.Lys296Glu) c.628A>G (p.Lys210Glu) c.787A>G (p.Lys263Glu) | |
| 15 | g.38351179A>T | CA391933389 | SPRED1 | c.850A>T (p.Lys284Ter) c.886A>T (p.Lys296Ter) c.628A>T (p.Lys210Ter) c.787A>T (p.Lys263Ter) | |
| 15 | g.38351180A>C | CA391933393 | SPRED1 | c.851A>C (p.Lys284Thr) c.887A>C (p.Lys296Thr) c.629A>C (p.Lys210Thr) c.788A>C (p.Lys263Thr) | |
| 15 | g.38351180A>G | CA391933392 | SPRED1 | c.851A>G (p.Lys284Arg) c.887A>G (p.Lys296Arg) c.629A>G (p.Lys210Arg) c.788A>G (p.Lys263Arg) | |
| 15 | g.38351180A>T | CA391933394 | SPRED1 | c.851A>T (p.Lys284Ile) c.887A>T (p.Lys296Ile) c.629A>T (p.Lys210Ile) c.788A>T (p.Lys263Ile) | |
| 15 | g.38351181A= | CA2170812603 | SPRED1 | c.852A= (p.Lys284=) c.888A= (p.Lys296=) c.630A= (p.Lys210=) c.789A= (p.Lys263=) | |
| 15 | g.38351181A>C | CA391933395 | SPRED1 | c.852A>C (p.Lys284Asn) c.888A>C (p.Lys296Asn) c.630A>C (p.Lys210Asn) c.789A>C (p.Lys263Asn) | dbSNP gnomAD v2 |
| 15 | g.38351181A>G | CA490011854 | SPRED1 | c.852A>G (p.Lys284=) c.888A>G (p.Lys296=) c.630A>G (p.Lys210=) c.789A>G (p.Lys263=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351181A>T | CA391933396 | SPRED1 | c.852A>T (p.Lys284Asn) c.888A>T (p.Lys296Asn) c.630A>T (p.Lys210Asn) c.789A>T (p.Lys263Asn) | |
| 15 | g.38351182C>A | CA391933397 | SPRED1 | c.853C>A (p.Pro285Thr) c.889C>A (p.Pro297Thr) c.631C>A (p.Pro211Thr) c.790C>A (p.Pro264Thr) | gnomAD v4 |
| 15 | g.38351182C>G | CA391933398 | SPRED1 | c.853C>G (p.Pro285Ala) c.889C>G (p.Pro297Ala) c.631C>G (p.Pro211Ala) c.790C>G (p.Pro264Ala) | |
| 15 | g.38351182C>T | CA391933399 | SPRED1 | c.853C>T (p.Pro285Ser) c.889C>T (p.Pro297Ser) c.631C>T (p.Pro211Ser) c.790C>T (p.Pro264Ser) | |
| 15 | g.38351183C>A | CA391933400 | SPRED1 | c.854C>A (p.Pro285Gln) c.890C>A (p.Pro297Gln) c.632C>A (p.Pro211Gln) c.791C>A (p.Pro264Gln) | |
| 15 | g.38351183C= | CA2170812604 | SPRED1 | c.854C= (p.Pro285=) c.890C= (p.Pro297=) c.632C= (p.Pro211=) c.791C= (p.Pro264=) | |
| 15 | g.38351183C>G | CA391933401 | SPRED1 | c.854C>G (p.Pro285Arg) c.890C>G (p.Pro297Arg) c.632C>G (p.Pro211Arg) c.791C>G (p.Pro264Arg) | |
| 15 | g.38351183C>T | CA269293448 | SPRED1 | c.854C>T (p.Pro285Leu) c.890C>T (p.Pro297Leu) c.632C>T (p.Pro211Leu) c.791C>T (p.Pro264Leu) | ClinVar dbSNP |
| 15 | g.38351184A>C | CA490011858 | SPRED1 | c.855A>C (p.Pro285=) c.891A>C (p.Pro297=) c.633A>C (p.Pro211=) c.792A>C (p.Pro264=) | |
| 15 | g.38351184A>G | CA490011859 | SPRED1 | c.855A>G (p.Pro285=) c.891A>G (p.Pro297=) c.633A>G (p.Pro211=) c.792A>G (p.Pro264=) | |
| 15 | g.38351184A>T | CA490011860 | SPRED1 | c.855A>T (p.Pro285=) c.891A>T (p.Pro297=) c.633A>T (p.Pro211=) c.792A>T (p.Pro264=) | |
| 15 | g.38351185G>A | CA391933402 | SPRED1 | c.856G>A (p.Asp286Asn) c.892G>A (p.Asp298Asn) c.634G>A (p.Asp212Asn) c.793G>A (p.Asp265Asn) | ClinVar dbSNP |
| 15 | g.38351185G>C | CA391933403 | SPRED1 | c.856G>C (p.Asp286His) c.892G>C (p.Asp298His) c.634G>C (p.Asp212His) c.793G>C (p.Asp265His) | gnomAD v4 |
| 15 | g.38351185G>T | CA391933404 | SPRED1 | c.856G>T (p.Asp286Tyr) c.892G>T (p.Asp298Tyr) c.634G>T (p.Asp212Tyr) c.793G>T (p.Asp265Tyr) | |
| 15 | g.38351186A>C | CA391933405 | SPRED1 | c.857A>C (p.Asp286Ala) c.893A>C (p.Asp298Ala) c.635A>C (p.Asp212Ala) c.794A>C (p.Asp265Ala) | |
| 15 | g.38351186A>G | CA391933406 | SPRED1 | c.857A>G (p.Asp286Gly) c.893A>G (p.Asp298Gly) c.635A>G (p.Asp212Gly) c.794A>G (p.Asp265Gly) | |
| 15 | g.38351186A>T | CA391933407 | SPRED1 | c.857A>T (p.Asp286Val) c.893A>T (p.Asp298Val) c.635A>T (p.Asp212Val) c.794A>T (p.Asp265Val) | |
| 15 | g.38351187C>A | CA391933408 | SPRED1 | c.858C>A (p.Asp286Glu) c.894C>A (p.Asp298Glu) c.636C>A (p.Asp212Glu) c.795C>A (p.Asp265Glu) | |
| 15 | g.38351187C= | CA2170812605 | SPRED1 | c.858C= (p.Asp286=) c.894C= (p.Asp298=) c.636C= (p.Asp212=) c.795C= (p.Asp265=) | |
| 15 | g.38351187C>G | CA391933409 | SPRED1 | c.858C>G (p.Asp286Glu) c.894C>G (p.Asp298Glu) c.636C>G (p.Asp212Glu) c.795C>G (p.Asp265Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351187C>T | CA490011865 | SPRED1 | c.858C>T (p.Asp286=) c.894C>T (p.Asp298=) c.636C>T (p.Asp212=) c.795C>T (p.Asp265=) | |
| 15 | g.38351188A>C | CA391933410 | SPRED1 | c.859A>C (p.Ser287Arg) c.895A>C (p.Ser299Arg) c.637A>C (p.Ser213Arg) c.796A>C (p.Ser266Arg) | |
| 15 | g.38351188A>G | CA391933411 | SPRED1 | c.859A>G (p.Ser287Gly) c.895A>G (p.Ser299Gly) c.637A>G (p.Ser213Gly) c.796A>G (p.Ser266Gly) | gnomAD v4 |
| 15 | g.38351188A>T | CA391933412 | SPRED1 | c.859A>T (p.Ser287Cys) c.895A>T (p.Ser299Cys) c.637A>T (p.Ser213Cys) c.796A>T (p.Ser266Cys) | |
| 15 | g.38351189G>A | CA391933413 | SPRED1 | c.860G>A (p.Ser287Asn) c.896G>A (p.Ser299Asn) c.638G>A (p.Ser213Asn) c.797G>A (p.Ser266Asn) | gnomAD v4 |
| 15 | g.38351189G>C | CA391933414 | SPRED1 | c.860G>C (p.Ser287Thr) c.896G>C (p.Ser299Thr) c.638G>C (p.Ser213Thr) c.797G>C (p.Ser266Thr) | |
| 15 | g.38351189G>T | CA391933415 | SPRED1 | c.860G>T (p.Ser287Ile) c.896G>T (p.Ser299Ile) c.638G>T (p.Ser213Ile) c.797G>T (p.Ser266Ile) | |
| 15 | g.38351190T>A | CA391933416 | SPRED1 | c.861T>A (p.Ser287Arg) c.897T>A (p.Ser299Arg) c.639T>A (p.Ser213Arg) c.798T>A (p.Ser266Arg) | |
| 15 | g.38351190T>C | CA490011870 | SPRED1 | c.861T>C (p.Ser287=) c.897T>C (p.Ser299=) c.639T>C (p.Ser213=) c.798T>C (p.Ser266=) | ClinVar gnomAD v4 |
| 15 | g.38351190T>G | CA391933417 | SPRED1 | c.861T>G (p.Ser287Arg) c.897T>G (p.Ser299Arg) c.639T>G (p.Ser213Arg) c.798T>G (p.Ser266Arg) | |
| 15 | g.38351190T= | CA2170812606 | SPRED1 | c.861T= (p.Ser287=) c.897T= (p.Ser299=) c.639T= (p.Ser213=) c.798T= (p.Ser266=) | |
| 15 | g.38351191A= | CA2170812607 | SPRED1 | c.862A= (p.Lys288=) c.898A= (p.Lys300=) c.640A= (p.Lys214=) c.799A= (p.Lys267=) | |
| 15 | g.38351191A>C | CA391933418 | SPRED1 | c.862A>C (p.Lys288Gln) c.898A>C (p.Lys300Gln) c.640A>C (p.Lys214Gln) c.799A>C (p.Lys267Gln) | |
| 15 | g.38351191A>G | CA391933419 | SPRED1 | c.862A>G (p.Lys288Glu) c.898A>G (p.Lys300Glu) c.640A>G (p.Lys214Glu) c.799A>G (p.Lys267Glu) | dbSNP gnomAD v4 |
| 15 | g.38351191A>T | CA391933420 | SPRED1 | c.862A>T (p.Lys288Ter) c.898A>T (p.Lys300Ter) c.640A>T (p.Lys214Ter) c.799A>T (p.Lys267Ter) | |
| 15 | g.38351196dup | CA617561332 | SPRED1 | c.867dup (p.Ser290IlefsTer10) c.903dup (p.Ser302IlefsTer10) c.645dup (p.Ser216IlefsTer10) c.804dup (p.Ser269IlefsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351192A>C | CA391933422 | SPRED1 | c.863A>C (p.Lys288Thr) c.899A>C (p.Lys300Thr) c.641A>C (p.Lys214Thr) c.800A>C (p.Lys267Thr) | gnomAD v4 COSMIC |