| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48589399C>A | CA352724294 | COL7A1 | c.2242G>T (p.Glu748Ter) n.2278G>T | |
| 3 | g.48589399C= | CA1363091069 | COL7A1 | c.2242G= (p.Glu748=) n.2278G= | |
| 3 | g.48589399C>G | CA352724295 | COL7A1 | c.2242G>C (p.Glu748Gln) n.2278G>C | |
| 3 | g.48589399C>T | CA2380960 | COL7A1 | c.2242G>A (p.Glu748Lys) n.2278G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48589400A= | CA1363091074 | COL7A1 | c.2241T= (p.Thr747=) n.2277T= | |
| 3 | g.48589400A>C | CA433617710 | COL7A1 | c.2241T>G (p.Thr747=) n.2277T>G | |
| 3 | g.48589400A>G | CA2380961 | COL7A1 | c.2241T>C (p.Thr747=) n.2277T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48589400A>T | CA433617712 | COL7A1 | c.2241T>A (p.Thr747=) n.2277T>A | |
| 3 | g.48589401G>A | CA352724314 | COL7A1 | c.2240C>T (p.Thr747Ile) n.2276C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48589401G>C | CA352724318 | COL7A1 | c.2240C>G (p.Thr747Ser) n.2276C>G | |
| 3 | g.48589401G= | CA1363091077 | COL7A1 | c.2240C= (p.Thr747=) n.2276C= | |
| 3 | g.48589401G>T | CA352724320 | COL7A1 | c.2240C>A (p.Thr747Asn) n.2276C>A | |
| 3 | g.48589402T>A | CA352724333 | COL7A1 | c.2239A>T (p.Thr747Ser) n.2275A>T | |
| 3 | g.48589402T>C | CA352724336 | COL7A1 | c.2239A>G (p.Thr747Ala) n.2275A>G | ClinVar dbSNP |
| 3 | g.48589402T>G | CA352724328 | COL7A1 | c.2239A>C (p.Thr747Pro) n.2275A>C | |
| 3 | g.48589402T= | CA1363091079 | COL7A1 | c.2239A= (p.Thr747=) n.2275A= | |
| 3 | g.48589403A= | CA1363091088 | COL7A1 | c.2238T= (p.Asp746=) n.2274T= | |
| 3 | g.48589403A>C | CA352724340 | COL7A1 | c.2238T>G (p.Asp746Glu) n.2274T>G | |
| 3 | g.48589403A>G | CA433617713 | COL7A1 | c.2238T>C (p.Asp746=) n.2274T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48589403A>T | CA352724342 | COL7A1 | c.2238T>A (p.Asp746Glu) n.2274T>A | |
| 3 | g.48589404T>A | CA352724345 | COL7A1 | c.2237A>T (p.Asp746Val) n.2273A>T | |
| 3 | g.48589404T>C | CA352724348 | COL7A1 | c.2237A>G (p.Asp746Gly) n.2273A>G | |
| 3 | g.48589404T>G | CA352724352 | COL7A1 | c.2237A>C (p.Asp746Ala) n.2273A>C | |
| 3 | g.48589405C>A | CA352724355 | COL7A1 | c.2236G>T (p.Asp746Tyr) n.2272G>T | |
| 3 | g.48589405C>G | CA352724360 | COL7A1 | c.2236G>C (p.Asp746His) n.2272G>C | COSMIC |
| 3 | g.48589405C>T | CA352724364 | COL7A1 | c.2236G>A (p.Asp746Asn) n.2272G>A | |
| 3 | g.48589406T>A | CA433617717 | COL7A1 | c.2235A>T (p.Pro745=) n.2271A>T | |
| 3 | g.48589406T>C | CA433617718 | COL7A1 | c.2235A>G (p.Pro745=) n.2271A>G | |
| 3 | g.48589406T>G | CA433617719 | COL7A1 | c.2235A>C (p.Pro745=) n.2271A>C | |
| 3 | g.48589407G>A | CA352724367 | COL7A1 | c.2234C>T (p.Pro745Leu) n.2270C>T | |
| 3 | g.48589407G>C | CA352724370 | COL7A1 | c.2234C>G (p.Pro745Arg) n.2270C>G | |
| 3 | g.48589407G= | CA1363091089 | COL7A1 | c.2234C= (p.Pro745=) n.2270C= | |
| 3 | g.48589407G>T | CA352724376 | COL7A1 | c.2234C>A (p.Pro745Gln) n.2270C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48589408G>A | CA352724381 | COL7A1 | c.2233C>T (p.Pro745Ser) n.2269C>T | |
| 3 | g.48589408G>C | CA2380962 | COL7A1 | c.2233C>G (p.Pro745Ala) n.2269C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48589408G= | CA1363091091 | COL7A1 | c.2233C= (p.Pro745=) n.2269C= | |
| 3 | g.48589408G>T | CA352724388 | COL7A1 | c.2233C>A (p.Pro745Thr) n.2269C>A | |
| 3 | g.48589409C>A | CA352724393 | COL7A1 | c.2232G>T (p.Glu744Asp) n.2268G>T | |
| 3 | g.48589409C>G | CA352724398 | COL7A1 | c.2232G>C (p.Glu744Asp) n.2268G>C | |
| 3 | g.48589409C>T | CA433617722 | COL7A1 | c.2232G>A (p.Glu744=) n.2268G>A | |
| 3 | g.48589410T>A | CA352724402 | COL7A1 | c.2231A>T (p.Glu744Val) n.2267A>T | |
| 3 | g.48589410T>C | CA352724405 | COL7A1 | c.2231A>G (p.Glu744Gly) n.2267A>G | gnomAD v4 |
| 3 | g.48589410T>G | CA352724410 | COL7A1 | c.2231A>C (p.Glu744Ala) n.2267A>C | |
| 3 | g.48589411C>A | CA352724413 | COL7A1 | c.2230G>T (p.Glu744Ter) n.2266G>T | |
| 3 | g.48589411C>G | CA352724416 | COL7A1 | c.2230G>C (p.Glu744Gln) n.2266G>C | |
| 3 | g.48589411C>T | CA352724423 | COL7A1 | c.2230G>A (p.Glu744Lys) n.2266G>A | gnomAD v4 |
| 3 | g.48589412C>A | CA433617724 | COL7A1 | c.2229G>T (p.Leu743=) n.2265G>T | |
| 3 | g.48589412C= | CA1363091094 | COL7A1 | c.2229G= (p.Leu743=) n.2265G= | |
| 3 | g.48589412C>G | CA433617725 | COL7A1 | c.2229G>C (p.Leu743=) n.2265G>C | |
| 3 | g.48589412C>T | CA433617726 | COL7A1 | c.2229G>A (p.Leu743=) n.2265G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |