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.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 |
| 15 | g.38351192A>G | CA391933423 | SPRED1 | c.863A>G (p.Lys288Arg) c.899A>G (p.Lys300Arg) c.641A>G (p.Lys214Arg) c.800A>G (p.Lys267Arg) | |
| 15 | g.38351192A>T | CA391933421 | SPRED1 | c.863A>T (p.Lys288Ile) c.899A>T (p.Lys300Ile) c.641A>T (p.Lys214Ile) c.800A>T (p.Lys267Ile) | |
| 15 | g.38351193A= | CA2170812608 | SPRED1 | c.864A= (p.Lys288=) c.900A= (p.Lys300=) c.642A= (p.Lys214=) c.801A= (p.Lys267=) | |
| 15 | g.38351193A>C | CA7470192 | SPRED1 | c.864A>C (p.Lys288Asn) c.900A>C (p.Lys300Asn) c.642A>C (p.Lys214Asn) c.801A>C (p.Lys267Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351193A>G | CA490011875 | SPRED1 | c.864A>G (p.Lys288=) c.900A>G (p.Lys300=) c.642A>G (p.Lys214=) c.801A>G (p.Lys267=) | |
| 15 | g.38351193A>T | CA391933424 | SPRED1 | c.864A>T (p.Lys288Asn) c.900A>T (p.Lys300Asn) c.642A>T (p.Lys214Asn) c.801A>T (p.Lys267Asn) | |
| 15 | g.38351194A>C | CA391933425 | SPRED1 | c.865A>C (p.Lys289Gln) c.901A>C (p.Lys301Gln) c.643A>C (p.Lys215Gln) c.802A>C (p.Lys268Gln) | |
| 15 | g.38351194A>G | CA391933426 | SPRED1 | c.865A>G (p.Lys289Glu) c.901A>G (p.Lys301Glu) c.643A>G (p.Lys215Glu) c.802A>G (p.Lys268Glu) | |
| 15 | g.38351194A>T | CA391933427 | SPRED1 | c.865A>T (p.Lys289Ter) c.901A>T (p.Lys301Ter) c.643A>T (p.Lys215Ter) c.802A>T (p.Lys268Ter) | |
| 15 | g.38351194_38351203delinsAAATCAGACT | CA2170812609 | SPRED1 | c.865_874delinsAAATCAGACT (p.Lys289=) c.901_910delinsAAATCAGACT (p.Lys301=) c.643_652delinsAAATCAGACT (p.Lys215=) c.802_811delinsAAATCAGACT (p.Lys268=) | |
| 15 | g.38351195A= | CA2170812610 | SPRED1 | c.866A= (p.Lys289=) c.902A= (p.Lys301=) c.644A= (p.Lys215=) c.803A= (p.Lys268=) | |
| 15 | g.38351195A>C | CA7470194 | SPRED1 | c.866A>C (p.Lys289Thr) c.902A>C (p.Lys301Thr) c.644A>C (p.Lys215Thr) c.803A>C (p.Lys268Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351195A>G | CA391933428 | SPRED1 | c.866A>G (p.Lys289Arg) c.902A>G (p.Lys301Arg) c.644A>G (p.Lys215Arg) c.803A>G (p.Lys268Arg) | |
| 15 | g.38351195A>T | CA391933429 | SPRED1 | c.866A>T (p.Lys289Ile) c.902A>T (p.Lys301Ile) c.644A>T (p.Lys215Ile) c.803A>T (p.Lys268Ile) | dbSNP gnomAD v2 gnomAD v4 |