Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.48589322C>T | CA2586972323 | COL7A1 | c.2314+5G>A (n.2314+5G>A) n.2350+5G>A | |
3 | g.48589323T>C | CA2380941 | COL7A1 | c.2314+4A>G (n.2314+4A>G) n.2350+4A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.48589323T= | CA1363090904 | COL7A1 | c.2314+4A= (n.2314+4A=) n.2350+4A= | |
3 | g.48589324C>T | CA2665625588 | COL7A1 | c.2314+3G>A (n.2314+3G>A) n.2350+3G>A | gnomAD v4 |
3 | g.48589325A>C | CA352723491 | COL7A1 | c.2314+2T>G (n.2314+2T>G) n.2350+2T>G | ClinVar dbSNP |
3 | g.48589325A>G | CA352723501 | COL7A1 | c.2314+2T>C (n.2314+2T>C) n.2350+2T>C | |
3 | g.48589325A>T | CA352723507 | COL7A1 | c.2314+2T>A (n.2314+2T>A) n.2350+2T>A | |
3 | g.48589325_48589333delinsACCAGTCCT | CA1363090907 | COL7A1 | c.2308_2314+2delinsAGGACTGGT n.2344_2350+2delinsAGGACTGGT | |
3 | g.48589326C>A | CA352723513 | COL7A1 | c.2314+1G>T (n.2314+1G>T) n.2350+1G>T | |
3 | g.48589326C>G | CA352723515 | COL7A1 | c.2314+1G>C (n.2314+1G>C) n.2350+1G>C | |
3 | g.48589326C>T | CA352723518 | COL7A1 | c.2314+1G>A (n.2314+1G>A) n.2350+1G>A | gnomAD v4 |
3 | g.48589327_48589334del | CA916887988 | COL7A1 | c.2308_2314+1del n.2344_2350+1del | dbSNP gnomAD v4 |
3 | g.48589326_48589336delinsCCAGTCCTCAC | CA1363090909 | COL7A1 | c.2305_2314+1delinsGTGAGGACTGG n.2341_2350+1delinsGTGAGGACTGG | |
3 | g.48589327C>A | CA352723524 | COL7A1 | c.2314G>T (p.Ala772Ser) c.2314G>T (p.Gly772Ter) n.2350G>T | |
3 | g.48589327C= | CA1363090918 | COL7A1 | c.2314G= (p.Ala772=) c.2314G= (p.Gly772=) n.2350G= | |
3 | g.48589327C>G | CA352723526 | COL7A1 | c.2314G>C (p.Ala772Pro) c.2314G>C (p.Gly772Arg) n.2350G>C | dbSNP |
3 | g.48589327C>T | CA73988500 | COL7A1 | c.2314G>A (p.Ala772Thr) c.2314G>A (p.Gly772Arg) n.2350G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.48589327_48589336delinsAA | CA1139655783 | COL7A1 | c.2305_2314delinsTT (p.Val769PhefsTer3) c.2305_2314delinsTT (p.Val769LeufsTer12) n.2341_2350delinsTT | ClinVar dbSNP |
3 | g.48589328A>C | CA433617600 | COL7A1 | c.2313T>G (p.Thr771=) n.2349T>G | |
3 | g.48589328A>G | CA433617596 | COL7A1 | c.2313T>C (p.Thr771=) n.2349T>C | gnomAD v4 |
3 | g.48589328A>T | CA433617598 | COL7A1 | c.2313T>A (p.Thr771=) n.2349T>A | |
3 | g.48589329G>A | CA352723536 | COL7A1 | c.2312C>T (p.Thr771Ile) n.2348C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.48589329G>C | CA352723545 | COL7A1 | c.2312C>G (p.Thr771Ser) n.2348C>G | |
3 | g.48589329G= | CA1363090923 | COL7A1 | c.2312C= (p.Thr771=) n.2348C= | |
3 | g.48589329G>T | CA352723548 | COL7A1 | c.2312C>A (p.Thr771Asn) n.2348C>A | |
3 | g.48589330T>A | CA352723556 | COL7A1 | c.2311A>T (p.Thr771Ser) n.2347A>T | |
3 | g.48589330T>C | CA352723550 | COL7A1 | c.2311A>G (p.Thr771Ala) n.2347A>G | |
3 | g.48589330T>G | CA352723549 | COL7A1 | c.2311A>C (p.Thr771Pro) n.2347A>C | |
3 | g.48589331C>A | CA352723581 | COL7A1 | c.2310G>T (p.Arg770Ser) n.2346G>T | |
3 | g.48589331C= | CA1363090926 | COL7A1 | c.2310G= (p.Arg770=) n.2346G= | |
3 | g.48589331C>G | CA352723589 | COL7A1 | c.2310G>C (p.Arg770Ser) n.2346G>C | |
3 | g.48589331C>T | CA433617605 | COL7A1 | c.2310G>A (p.Arg770=) n.2346G>A | dbSNP gnomAD v2 |
3 | g.48589332C>A | CA352723595 | COL7A1 | c.2309G>T (p.Arg770Met) n.2345G>T | |
3 | g.48589332C= | CA1363090928 | COL7A1 | c.2309G= (p.Arg770=) n.2345G= | |
3 | g.48589332C>G | CA352723601 | COL7A1 | c.2309G>C (p.Arg770Thr) n.2345G>C | |
3 | g.48589332C>T | CA2380942 | COL7A1 | c.2309G>A (p.Arg770Lys) n.2345G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.48589333T>A | CA352723612 | COL7A1 | c.2308A>T (p.Arg770Trp) n.2344A>T | |
3 | g.48589333T>C | CA352723623 | COL7A1 | c.2308A>G (p.Arg770Gly) n.2344A>G | |
3 | g.48589333T>G | CA433617612 | COL7A1 | c.2308A>C (p.Arg770=) n.2344A>C | |
3 | g.48589334C>A | CA433617613 | COL7A1 | c.2307G>T (p.Val769=) n.2343G>T | |
3 | g.48589334C>G | CA433617614 | COL7A1 | c.2307G>C (p.Val769=) n.2343G>C | gnomAD v4 |
3 | g.48589334C>T | CA433617615 | COL7A1 | c.2307G>A (p.Val769=) n.2343G>A | ClinVar dbSNP gnomAD v4 |
3 | g.48589335A>C | CA352723628 | COL7A1 | c.2306T>G (p.Val769Gly) n.2342T>G | |
3 | g.48589335A>G | CA352723626 | COL7A1 | c.2306T>C (p.Val769Ala) n.2342T>C | |
3 | g.48589335A>T | CA352723627 | COL7A1 | c.2306T>A (p.Val769Glu) n.2342T>A | |
3 | g.48589336C>A | CA352723630 | COL7A1 | c.2305G>T (p.Val769Leu) n.2341G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.48589336C= | CA1363090930 | COL7A1 | c.2305G= (p.Val769=) n.2341G= | |
3 | g.48589336C>G | CA352723634 | COL7A1 | c.2305G>C (p.Val769Leu) n.2341G>C | |
3 | g.48589336C>T | CA352723664 | COL7A1 | c.2305G>A (p.Val769Met) n.2341G>A | |
3 | g.48589337A>C | CA433617621 | COL7A1 | c.2304T>G (p.Val768=) n.2340T>G |