Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.48592603_48592622dup | CA2586972302 | COL7A1 | c.925_944dup (p.Ile315MetfsTer12) n.961_980dup | |
3 | g.48592613G>A | CA2381399 | COL7A1 | c.933C>T (p.Tyr311=) n.969C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.48592613G>C | CA352739774 | COL7A1 | c.933C>G (p.Tyr311Ter) n.969C>G | ClinVar dbSNP |
3 | g.48592613G= | CA1363087366 | COL7A1 | c.933C= (p.Tyr311=) n.969C= | |
3 | g.48592613G>T | CA257937 | COL7A1 | c.933C>A (p.Tyr311Ter) n.969C>A | ClinVar dbSNP |
3 | g.48592614T>A | CA352739779 | COL7A1 | c.932A>T (p.Tyr311Phe) n.968A>T | |
3 | g.48592614T>C | CA2381400 | COL7A1 | c.932A>G (p.Tyr311Cys) n.968A>G | ClinVar dbSNP ExAC |
3 | g.48592614T>G | CA352739782 | COL7A1 | c.932A>C (p.Tyr311Ser) n.968A>C | |
3 | g.48592614T= | CA1363087371 | COL7A1 | c.932A= (p.Tyr311=) n.968A= | |
3 | g.48592615A= | CA1363087375 | COL7A1 | c.931T= (p.Tyr311=) n.967T= | |
3 | g.48592615A>C | CA352739786 | COL7A1 | c.931T>G (p.Tyr311Asp) n.967T>G | |
3 | g.48592615A>G | CA352739790 | COL7A1 | c.931T>C (p.Tyr311His) n.967T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.48592615A>T | CA352739788 | COL7A1 | c.931T>A (p.Tyr311Asn) n.967T>A | |
3 | g.48592616G>A | CA433618580 | COL7A1 | c.930C>T (p.Leu310=) n.966C>T | dbSNP COSMIC |
3 | g.48592616G>C | CA73992860 | COL7A1 | c.930C>G (p.Leu310=) n.966C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.48592616G= | CA1363087376 | COL7A1 | c.930C= (p.Leu310=) n.966C= | |
3 | g.48592616G>T | CA433618578 | COL7A1 | c.930C>A (p.Leu310=) n.966C>A | |
3 | g.48592617A>C | CA352739793 | COL7A1 | c.929T>G (p.Leu310Arg) n.965T>G | |
3 | g.48592617A>G | CA352739794 | COL7A1 | c.929T>C (p.Leu310Pro) n.965T>C | |
3 | g.48592617A>T | CA352739795 | COL7A1 | c.929T>A (p.Leu310His) n.965T>A | |
3 | g.48592618G>A | CA352739798 | COL7A1 | c.928C>T (p.Leu310Phe) n.964C>T | |
3 | g.48592618G>C | CA352739802 | COL7A1 | c.928C>G (p.Leu310Val) n.964C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.48592618G= | CA1363087380 | COL7A1 | c.928C= (p.Leu310=) n.964C= | |
3 | g.48592618G>T | CA352739806 | COL7A1 | c.928C>A (p.Leu310Ile) n.964C>A | COSMIC |
3 | g.48592619G>A | CA2381401 | COL7A1 | c.927C>T (p.Ala309=) n.963C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.48592619G>C | CA433618586 | COL7A1 | c.927C>G (p.Ala309=) n.963C>G | |
3 | g.48592619G= | CA1363087384 | COL7A1 | c.927C= (p.Ala309=) n.963C= | |
3 | g.48592619G>T | CA433618587 | COL7A1 | c.927C>A (p.Ala309=) n.963C>A | |
3 | g.48592620G>A | CA73992874 | COL7A1 | c.926C>T (p.Ala309Val) n.962C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.48592620G>C | CA352739817 | COL7A1 | c.926C>G (p.Ala309Gly) n.962C>G | |
3 | g.48592620G= | CA1363087388 | COL7A1 | c.926C= (p.Ala309=) n.962C= | |
3 | g.48592620G>T | CA352739820 | COL7A1 | c.926C>A (p.Ala309Asp) n.962C>A | |
3 | g.48592621C>A | CA352739826 | COL7A1 | c.925G>T (p.Ala309Ser) n.961G>T | |
3 | g.48592621C>G | CA352739827 | COL7A1 | c.925G>C (p.Ala309Pro) n.961G>C | |
3 | g.48592621C>T | CA352739825 | COL7A1 | c.925G>A (p.Ala309Thr) n.961G>A | |
3 | g.48592622A>C | CA352739830 | COL7A1 | c.924T>G (p.Ile308Met) n.960T>G | |
3 | g.48592622A>G | CA433618610 | COL7A1 | c.924T>C (p.Ile308=) n.960T>C | |
3 | g.48592622A>T | CA433618604 | COL7A1 | c.924T>A (p.Ile308=) n.960T>A | |
3 | g.48592623A= | CA1363087393 | COL7A1 | c.923T= (p.Ile308=) n.959T= | |
3 | g.48592623A>C | CA352739834 | COL7A1 | c.923T>G (p.Ile308Ser) n.959T>G | |
3 | g.48592623A>G | CA2381402 | COL7A1 | c.923T>C (p.Ile308Thr) n.959T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.48592623A>T | CA352739838 | COL7A1 | c.923T>A (p.Ile308Asn) n.959T>A | |
3 | g.48592624T>A | CA352739843 | COL7A1 | c.922A>T (p.Ile308Phe) n.958A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.48592624T>C | CA352739848 | COL7A1 | c.922A>G (p.Ile308Val) n.958A>G | |
3 | g.48592624T>G | CA352739844 | COL7A1 | c.922A>C (p.Ile308Leu) n.958A>C | |
3 | g.48592624T= | CA1363087396 | COL7A1 | c.922A= (p.Ile308=) n.958A= | |
3 | g.48592625C>A | CA433618633 | COL7A1 | c.921G>T (p.Val307=) n.957G>T | |
3 | g.48592625C>G | CA433618637 | COL7A1 | c.921G>C (p.Val307=) n.957G>C | ClinVar dbSNP |
3 | g.48592625C>T | CA433618638 | COL7A1 | c.921G>A (p.Val307=) n.957G>A | |
3 | g.48592626A= | CA1363087398 | COL7A1 | c.920T= (p.Val307=) n.956T= |