| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104072062G>A | CA258055 | COL17A1 | c.433C>T (p.Arg145Ter) n.548C>T c.385C>T (p.Arg129Ter) n.483C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104072062G>C | CA378079908 | COL17A1 | c.433C>G (p.Arg145Gly) n.548C>G c.385C>G (p.Arg129Gly) n.483C>G | |
| 10 | g.104072062G= | CA1933377763 | COL17A1 | c.433C= (p.Arg145=) n.548C= c.385C= (p.Arg129=) n.483C= | |
| 10 | g.104072062G>T | CA471339757 | COL17A1 | c.433C>A (p.Arg145=) n.548C>A c.385C>A (p.Arg129=) n.483C>A | gnomAD v4 |
| 10 | g.104072063A= | CA1933377764 | COL17A1 | c.432T= (p.Val144=) n.547T= c.384T= (p.Val128=) n.482T= | |
| 10 | g.104072063A>C | CA471339758 | COL17A1 | c.432T>G (p.Val144=) n.547T>G c.384T>G (p.Val128=) n.482T>G | |
| 10 | g.104072063A>G | CA471339759 | COL17A1 | c.432T>C (p.Val144=) n.547T>C c.384T>C (p.Val128=) n.482T>C | dbSNP gnomAD v4 |
| 10 | g.104072063A>T | CA471339760 | COL17A1 | c.432T>A (p.Val144=) n.547T>A c.384T>A (p.Val128=) n.482T>A | |
| 10 | g.104072064A>C | CA378079911 | COL17A1 | c.431T>G (p.Val144Gly) n.546T>G c.383T>G (p.Val128Gly) n.481T>G | |
| 10 | g.104072064A>G | CA378079916 | COL17A1 | c.431T>C (p.Val144Ala) n.546T>C c.383T>C (p.Val128Ala) n.481T>C | |
| 10 | g.104072064A>T | CA378079914 | COL17A1 | c.431T>A (p.Val144Asp) n.546T>A c.383T>A (p.Val128Asp) n.481T>A | |
| 10 | g.104072065C>A | CA378079919 | COL17A1 | c.430G>T (p.Val144Phe) n.545G>T c.382G>T (p.Val128Phe) n.480G>T | |
| 10 | g.104072065C>G | CA378079923 | COL17A1 | c.430G>C (p.Val144Leu) n.545G>C c.382G>C (p.Val128Leu) n.480G>C | |
| 10 | g.104072065C>T | CA378079920 | COL17A1 | c.430G>A (p.Val144Ile) n.545G>A c.382G>A (p.Val128Ile) n.480G>A | |
| 10 | g.104072066T>A | CA471339763 | COL17A1 | c.429A>T (p.Arg143=) n.544A>T c.381A>T (p.Arg127=) n.479A>T | |
| 10 | g.104072066T>C | CA471339764 | COL17A1 | c.429A>G (p.Arg143=) n.544A>G c.381A>G (p.Arg127=) n.479A>G | |
| 10 | g.104072066T>G | CA471339765 | COL17A1 | c.429A>C (p.Arg143=) n.544A>C c.381A>C (p.Arg127=) n.479A>C | |
| 10 | g.104072067C>A | CA378079927 | COL17A1 | c.428G>T (p.Arg143Leu) n.543G>T c.380G>T (p.Arg127Leu) n.478G>T | |
| 10 | g.104072067C= | CA1933377765 | COL17A1 | c.428G= (p.Arg143=) n.543G= c.380G= (p.Arg127=) n.478G= | |
| 10 | g.104072067C>G | CA378079934 | COL17A1 | c.428G>C (p.Arg143Pro) n.543G>C c.380G>C (p.Arg127Pro) n.478G>C | |
| 10 | g.104072067C>T | CA5679425 | COL17A1 | c.428G>A (p.Arg143Gln) n.543G>A c.380G>A (p.Arg127Gln) n.478G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104072068G>A | CA378079935 | COL17A1 | c.427C>T (p.Arg143Ter) n.542C>T c.379C>T (p.Arg127Ter) n.477C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.104072068G>C | CA378079939 | COL17A1 | c.427C>G (p.Arg143Gly) n.542C>G c.379C>G (p.Arg127Gly) n.477C>G | gnomAD v4 |
| 10 | g.104072068G= | CA1933377766 | COL17A1 | c.427C= (p.Arg143=) n.542C= c.379C= (p.Arg127=) n.477C= | |
| 10 | g.104072068G>T | CA5679426 | COL17A1 | c.427C>A (p.Arg143=) n.542C>A c.379C>A (p.Arg127=) n.477C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104072069A>C | CA378079940 | COL17A1 | c.426T>G (p.Ile142Met) n.541T>G c.378T>G (p.Ile126Met) n.476T>G | |
| 10 | g.104072069A>G | CA471339769 | COL17A1 | c.426T>C (p.Ile142=) n.541T>C c.378T>C (p.Ile126=) n.476T>C | |
| 10 | g.104072069A>T | CA471339770 | COL17A1 | c.426T>A (p.Ile142=) n.541T>A c.378T>A (p.Ile126=) n.476T>A | |
| 10 | g.104072070del | CA2695212727 | COL17A1 | c.426del (p.Arg143GlufsTer?) n.541del c.378del (p.Arg127GlufsTer?) n.476del | |
| 10 | g.104072070A>C | CA378079941 | COL17A1 | c.425T>G (p.Ile142Ser) n.540T>G c.377T>G (p.Ile126Ser) n.475T>G | |
| 10 | g.104072070A>G | CA378079942 | COL17A1 | c.425T>C (p.Ile142Thr) n.540T>C c.377T>C (p.Ile126Thr) n.475T>C | |
| 10 | g.104072070A>T | CA378079947 | COL17A1 | c.425T>A (p.Ile142Asn) n.540T>A c.377T>A (p.Ile126Asn) n.475T>A | |
| 10 | g.104072071T>A | CA378079953 | COL17A1 | c.424A>T (p.Ile142Phe) n.539A>T c.376A>T (p.Ile126Phe) n.474A>T | |
| 10 | g.104072071T>C | CA378079955 | COL17A1 | c.424A>G (p.Ile142Val) n.539A>G c.376A>G (p.Ile126Val) n.474A>G | |
| 10 | g.104072071T>G | CA378079958 | COL17A1 | c.424A>C (p.Ile142Leu) n.539A>C c.376A>C (p.Ile126Leu) n.474A>C | |
| 10 | g.104072072T>A | CA378079959 | COL17A1 | c.423A>T (p.Glu141Asp) n.538A>T c.375A>T (p.Glu125Asp) n.473A>T | |
| 10 | g.104072072T>C | CA471339773 | COL17A1 | c.423A>G (p.Glu141=) n.538A>G c.375A>G (p.Glu125=) n.473A>G | |
| 10 | g.104072072T>G | CA378079963 | COL17A1 | c.423A>C (p.Glu141Asp) n.538A>C c.375A>C (p.Glu125Asp) n.473A>C | |
| 10 | g.104072073T>A | CA378079968 | COL17A1 | c.422A>T (p.Glu141Val) n.537A>T c.374A>T (p.Glu125Val) n.472A>T | |
| 10 | g.104072073T>C | CA378079969 | COL17A1 | c.422A>G (p.Glu141Gly) n.537A>G c.374A>G (p.Glu125Gly) n.472A>G | |
| 10 | g.104072073T>G | CA378079973 | COL17A1 | c.422A>C (p.Glu141Ala) n.537A>C c.374A>C (p.Glu125Ala) n.472A>C | |
| 10 | g.104072074C>A | CA378079975 | COL17A1 | c.421G>T (p.Glu141Ter) n.536G>T c.373G>T (p.Glu125Ter) n.471G>T | |
| 10 | g.104072074C>G | CA378079976 | COL17A1 | c.421G>C (p.Glu141Gln) n.536G>C c.373G>C (p.Glu125Gln) n.471G>C | |
| 10 | g.104072074C>T | CA378079978 | COL17A1 | c.421G>A (p.Glu141Lys) n.536G>A c.373G>A (p.Glu125Lys) n.471G>A | |
| 10 | g.104072075A= | CA1933377768 | COL17A1 | c.420T= (p.Ser140=) n.535T= c.372T= (p.Ser124=) n.470T= | |
| 10 | g.104072075A>C | CA378079982 | COL17A1 | c.420T>G (p.Ser140Arg) n.535T>G c.372T>G (p.Ser124Arg) n.470T>G | |
| 10 | g.104072075A>G | CA471339775 | COL17A1 | c.420T>C (p.Ser140=) n.535T>C c.372T>C (p.Ser124=) n.470T>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104072075A>T | CA378079985 | COL17A1 | c.420T>A (p.Ser140Arg) n.535T>A c.372T>A (p.Ser124Arg) n.470T>A | |
| 10 | g.104072075_104072077delinsACT | CA1933377767 | COL17A1 | c.418_420delinsAGT (p.Ser140=) n.533_535delinsAGT c.370_372delinsAGT (p.Ser124=) n.468_470delinsAGT | |
| 10 | g.104072076C>A | CA378079989 | COL17A1 | c.419G>T (p.Ser140Ile) n.534G>T c.371G>T (p.Ser124Ile) n.469G>T |