Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
3 | g.48589413A>C | CA352724428 | COL7A1 | c.2228T>G (p.Leu743Arg) n.2264T>G | |
3 | g.48589413A>G | CA352724432 | COL7A1 | c.2228T>C (p.Leu743Pro) n.2264T>C | gnomAD v4 |
3 | g.48589413A>T | CA352724435 | COL7A1 | c.2228T>A (p.Leu743Gln) n.2264T>A | |
3 | g.48589414G>A | CA433617729 | COL7A1 | c.2227C>T (p.Leu743=) n.2263C>T | |
3 | g.48589414G>C | CA352724442 | COL7A1 | c.2227C>G (p.Leu743Val) n.2263C>G | dbSNP gnomAD v4 |
3 | g.48589414G= | CA1363091097 | COL7A1 | c.2227C= (p.Leu743=) n.2263C= | |
3 | g.48589414G>T | CA352724446 | COL7A1 | c.2227C>A (p.Leu743Met) n.2263C>A | |
3 | g.48589415T>A | CA433617731 | COL7A1 | c.2226A>T (p.Gly742=) n.2262A>T | |
3 | g.48589415T>C | CA433617732 | COL7A1 | c.2226A>G (p.Gly742=) n.2262A>G | |
3 | g.48589415T>G | CA433617733 | COL7A1 | c.2226A>C (p.Gly742=) n.2262A>C | |
3 | g.48589419_48589422dup | CA16042453 | COL7A1 | c.2223_2226dup (p.Leu743TrpfsTer7) n.2259_2262dup | ClinVar dbSNP |
3 | g.48589416C>A | CA352724457 | COL7A1 | c.2225G>T (p.Gly742Val) n.2261G>T | gnomAD v4 |
3 | g.48589416C>G | CA352724463 | COL7A1 | c.2225G>C (p.Gly742Ala) n.2261G>C | |
3 | g.48589416C>T | CA352724460 | COL7A1 | c.2225G>A (p.Gly742Glu) n.2261G>A | |
3 | g.48589417C>A | CA352724488 | COL7A1 | c.2224G>T (p.Gly742Ter) n.2260G>T | COSMIC |
3 | g.48589417C>G | CA352724490 | COL7A1 | c.2224G>C (p.Gly742Arg) n.2260G>C | |
3 | g.48589417C>T | CA352724494 | COL7A1 | c.2224G>A (p.Gly742Arg) n.2260G>A | gnomAD v4 |
3 | g.48589418A>C | CA352724500 | COL7A1 | c.2223T>G (p.Asp741Glu) n.2259T>G | gnomAD v4 |
3 | g.48589418A>G | CA433617736 | COL7A1 | c.2223T>C (p.Asp741=) n.2259T>C | ClinVar dbSNP gnomAD v4 |
3 | g.48589418A>T | CA352724505 | COL7A1 | c.2223T>A (p.Asp741Glu) n.2259T>A | |
3 | g.48589419T>A | CA352724516 | COL7A1 | c.2222A>T (p.Asp741Val) n.2258A>T | |
3 | g.48589419T>C | CA352724537 | COL7A1 | c.2222A>G (p.Asp741Gly) n.2258A>G | |
3 | g.48589419T>G | CA352724539 | COL7A1 | c.2222A>C (p.Asp741Ala) n.2258A>C | |
3 | g.48589420C>A | CA352724551 | COL7A1 | c.2221G>T (p.Asp741Tyr) n.2257G>T | |
3 | g.48589420C= | CA1363091113 | COL7A1 | c.2221G= (p.Asp741=) n.2257G= | |
3 | g.48589420C>G | CA352724553 | COL7A1 | c.2221G>C (p.Asp741His) n.2257G>C | |
3 | g.48589420C>T | CA2380963 | COL7A1 | c.2221G>A (p.Asp741Asn) n.2257G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.48589421C>A | CA433617738 | COL7A1 | c.2220G>T (p.Leu740=) n.2256G>T | dbSNP gnomAD v4 |
3 | g.48589421C= | CA1363091116 | COL7A1 | c.2220G= (p.Leu740=) n.2256G= | |
3 | g.48589421C>G | CA433617739 | COL7A1 | c.2220G>C (p.Leu740=) n.2256G>C | |
3 | g.48589421C>T | CA433617740 | COL7A1 | c.2220G>A (p.Leu740=) n.2256G>A | ClinVar |
3 | g.48589422A>C | CA352724555 | COL7A1 | c.2219T>G (p.Leu740Arg) n.2255T>G | |
3 | g.48589422A>G | CA352724559 | COL7A1 | c.2219T>C (p.Leu740Pro) n.2255T>C | |
3 | g.48589422A>T | CA352724562 | COL7A1 | c.2219T>A (p.Leu740Gln) n.2255T>A | |
3 | g.48589423G>A | CA433617744 | COL7A1 | c.2218C>T (p.Leu740=) n.2254C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.48589423G>C | CA352724574 | COL7A1 | c.2218C>G (p.Leu740Val) n.2254C>G | |
3 | g.48589423G= | CA1363091118 | COL7A1 | c.2218C= (p.Leu740=) n.2254C= |