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 |
|---|---|---|---|---|---|
| 3 | g.48583013C>A | CA433542268 | COL7A1 | c.4518G>T (p.Arg1506=) n.435G>T c.4545G>T (p.Arg1515=) n.4581G>T n.4554G>T | |
| 3 | g.48583013C>G | CA433542269 | COL7A1 | c.4518G>C (p.Arg1506=) n.435G>C c.4545G>C (p.Arg1515=) n.4581G>C n.4554G>C | |
| 3 | g.48583013C>T | CA433542267 | COL7A1 | c.4518G>A (p.Arg1506=) n.435G>A c.4545G>A (p.Arg1515=) n.4581G>A n.4554G>A | gnomAD v4 |
| 3 | g.48583014C>A | CA352689119 | COL7A1 | c.4517G>T (p.Arg1506Leu) n.434G>T c.4544G>T (p.Arg1515Leu) n.4580G>T n.4553G>T | |
| 3 | g.48583014C= | CA1363080146 | COL7A1 | c.4517G= (p.Arg1506=) n.434G= c.4544G= (p.Arg1515=) n.4580G= n.4553G= | |
| 3 | g.48583014C>G | CA352689124 | COL7A1 | c.4517G>C (p.Arg1506Pro) n.434G>C c.4544G>C (p.Arg1515Pro) n.4580G>C n.4553G>C | |
| 3 | g.48583014C>T | CA2379986 | COL7A1 | c.4517G>A (p.Arg1506Gln) n.434G>A c.4544G>A (p.Arg1515Gln) n.4580G>A n.4553G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48583014_48583025delinsCGGGATCCCGCT | CA1363080149 | COL7A1 | c.4506_4517delinsAGCGGGATCCCG (p.Pro1502=) n.423_434delinsAGCGGGATCCCG c.4533_4544delinsAGCGGGATCCCG (p.Pro1511=) n.4569_4580delinsAGCGGGATCCCG n.4542_4553delinsAGCGGGATCCCG | |
| 3 | g.48583015G>A | CA2379987 | COL7A1 | c.4516C>T (p.Arg1506Trp) n.433C>T c.4543C>T (p.Arg1515Trp) n.4579C>T n.4552C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48583015G>C | CA352689141 | COL7A1 | c.4516C>G (p.Arg1506Gly) n.433C>G c.4543C>G (p.Arg1515Gly) n.4579C>G n.4552C>G | |
| 3 | g.48583015G= | CA1363080153 | COL7A1 | c.4516C= (p.Arg1506=) n.433C= c.4543C= (p.Arg1515=) n.4579C= n.4552C= | |
| 3 | g.48583015G>T | CA433542270 | COL7A1 | c.4516C>A (p.Arg1506=) n.433C>A c.4543C>A (p.Arg1515=) n.4579C>A n.4552C>A | ClinVar dbSNP |
| 3 | g.48583018_48583028del | CA542792415 | COL7A1 | c.4506_4516del (p.Ala1503GlyfsTer15) n.423_433del c.4533_4543del (p.Ala1512GlyfsTer15) n.4569_4579del n.4542_4552del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48583016G>A | CA433542271 | COL7A1 | c.4515C>T (p.Ser1505=) n.432C>T c.4542C>T (p.Ser1514=) n.4578C>T n.4551C>T | |
| 3 | g.48583016G>C | CA433542272 | COL7A1 | c.4515C>G (p.Ser1505=) n.432C>G c.4542C>G (p.Ser1514=) n.4578C>G n.4551C>G | |
| 3 | g.48583016G>T | CA433542273 | COL7A1 | c.4515C>A (p.Ser1505=) n.432C>A c.4542C>A (p.Ser1514=) n.4578C>A n.4551C>A | |
| 3 | g.48583017G>A | CA352689145 | COL7A1 | c.4514C>T (p.Ser1505Phe) n.431C>T c.4541C>T (p.Ser1514Phe) n.4577C>T n.4550C>T | gnomAD v4 |
| 3 | g.48583017G>C | CA352689152 | COL7A1 | c.4514C>G (p.Ser1505Cys) n.431C>G c.4541C>G (p.Ser1514Cys) n.4577C>G n.4550C>G | |
| 3 | g.48583017G>T | CA352689156 | COL7A1 | c.4514C>A (p.Ser1505Tyr) n.431C>A c.4541C>A (p.Ser1514Tyr) n.4577C>A n.4550C>A | |
| 3 | g.48583018A>C | CA352689159 | COL7A1 | c.4513T>G (p.Ser1505Ala) n.430T>G c.4540T>G (p.Ser1514Ala) n.4576T>G n.4549T>G | |
| 3 | g.48583018A>G | CA352689161 | COL7A1 | c.4513T>C (p.Ser1505Pro) n.430T>C c.4540T>C (p.Ser1514Pro) n.4576T>C n.4549T>C | |
| 3 | g.48583018A>T | CA352689163 | COL7A1 | c.4513T>A (p.Ser1505Thr) n.430T>A c.4540T>A (p.Ser1514Thr) n.4576T>A n.4549T>A | |
| 3 | g.48583019T>A | CA433542277 | COL7A1 | c.4512A>T (p.Gly1504=) n.429A>T c.4539A>T (p.Gly1513=) n.4575A>T n.4548A>T | |
| 3 | g.48583019T>C | CA433542278 | COL7A1 | c.4512A>G (p.Gly1504=) n.429A>G c.4539A>G (p.Gly1513=) n.4575A>G n.4548A>G | |
| 3 | g.48583019T>G | CA433542279 | COL7A1 | c.4512A>C (p.Gly1504=) n.429A>C c.4539A>C (p.Gly1513=) n.4575A>C n.4548A>C | |
| 3 | g.48583020C>A | CA352689174 | COL7A1 | c.4511G>T (p.Gly1504Val) n.428G>T c.4538G>T (p.Gly1513Val) n.4574G>T n.4547G>T | |
| 3 | g.48583020C>G | CA352689172 | COL7A1 | c.4511G>C (p.Gly1504Ala) n.428G>C c.4538G>C (p.Gly1513Ala) n.4574G>C n.4547G>C | |
| 3 | g.48583020C>T | CA352689167 | COL7A1 | c.4511G>A (p.Gly1504Glu) n.428G>A c.4538G>A (p.Gly1513Glu) n.4574G>A n.4547G>A | |
| 3 | g.48583021C>A | CA352689180 | COL7A1 | c.4510G>T (p.Gly1504Ter) n.427G>T c.4537G>T (p.Gly1513Ter) n.4573G>T n.4546G>T | |
| 3 | g.48583021C= | CA1363080156 | COL7A1 | c.4510G= (p.Gly1504=) n.427G= c.4537G= (p.Gly1513=) n.4573G= n.4546G= | |
| 3 | g.48583021C>G | CA352689187 | COL7A1 | c.4510G>C (p.Gly1504Arg) n.427G>C c.4537G>C (p.Gly1513Arg) n.4573G>C n.4546G>C | |
| 3 | g.48583021C>T | CA352689190 | COL7A1 | c.4510G>A (p.Gly1504Arg) n.427G>A c.4537G>A (p.Gly1513Arg) n.4573G>A n.4546G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48583022C>A | CA433542283 | COL7A1 | c.4509G>T (p.Ala1503=) n.426G>T c.4536G>T (p.Ala1512=) n.4572G>T n.4545G>T | |
| 3 | g.48583022C= | CA1363080159 | COL7A1 | c.4509G= (p.Ala1503=) n.426G= c.4536G= (p.Ala1512=) n.4572G= n.4545G= | |
| 3 | g.48583022C>G | CA433542284 | COL7A1 | c.4509G>C (p.Ala1503=) n.426G>C c.4536G>C (p.Ala1512=) n.4572G>C n.4545G>C | |
| 3 | g.48583022C>T | CA2379988 | COL7A1 | c.4509G>A (p.Ala1503=) n.426G>A c.4536G>A (p.Ala1512=) n.4572G>A n.4545G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48583023G>A | CA2379989 | COL7A1 | c.4508C>T (p.Ala1503Val) n.425C>T c.4535C>T (p.Ala1512Val) n.4571C>T n.4544C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48583023G>C | CA352689204 | COL7A1 | c.4508C>G (p.Ala1503Gly) n.425C>G c.4535C>G (p.Ala1512Gly) n.4571C>G n.4544C>G | |
| 3 | g.48583023G= | CA1363080163 | COL7A1 | c.4508C= (p.Ala1503=) n.425C= c.4535C= (p.Ala1512=) n.4571C= n.4544C= | |
| 3 | g.48583023G>T | CA352689205 | COL7A1 | c.4508C>A (p.Ala1503Glu) n.425C>A c.4535C>A (p.Ala1512Glu) n.4571C>A n.4544C>A | gnomAD v4 |
| 3 | g.48583024C>A | CA352689209 | COL7A1 | c.4507G>T (p.Ala1503Ser) n.424G>T c.4534G>T (p.Ala1512Ser) n.4570G>T n.4543G>T | |
| 3 | g.48583024C>G | CA352689215 | COL7A1 | c.4507G>C (p.Ala1503Pro) n.424G>C c.4534G>C (p.Ala1512Pro) n.4570G>C n.4543G>C | |
| 3 | g.48583024C>T | CA352689222 | COL7A1 | c.4507G>A (p.Ala1503Thr) n.424G>A c.4534G>A (p.Ala1512Thr) n.4570G>A n.4543G>A | |
| 3 | g.48583025T>A | CA433542285 | COL7A1 | c.4506A>T (p.Pro1502=) n.423A>T c.4533A>T (p.Pro1511=) n.4569A>T n.4542A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.48583025T>C | CA433542287 | COL7A1 | c.4506A>G (p.Pro1502=) n.423A>G c.4533A>G (p.Pro1511=) n.4569A>G n.4542A>G | |
| 3 | g.48583025T>G | CA433542286 | COL7A1 | c.4506A>C (p.Pro1502=) n.423A>C c.4533A>C (p.Pro1511=) n.4569A>C n.4542A>C | |
| 3 | g.48583026G>A | CA352689225 | COL7A1 | c.4505C>T (p.Pro1502Leu) n.422C>T c.4532C>T (p.Pro1511Leu) n.4568C>T n.4541C>T | dbSNP |
| 3 | g.48583026G>C | CA352689227 | COL7A1 | c.4505C>G (p.Pro1502Arg) n.422C>G c.4532C>G (p.Pro1511Arg) n.4568C>G n.4541C>G | |
| 3 | g.48583026G= | CA1363080166 | COL7A1 | c.4505C= (p.Pro1502=) n.422C= c.4532C= (p.Pro1511=) n.4568C= n.4541C= | |
| 3 | g.48583026G>T | CA352689231 | COL7A1 | c.4505C>A (p.Pro1502Gln) n.422C>A c.4532C>A (p.Pro1511Gln) n.4568C>A n.4541C>A |