| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104053072C>A | CA378070064 | COL17A1 | c.1898G>T (p.Gly633Val) | |
| 10 | g.104053072C= | CA1933402949 | COL17A1 | c.1898G= (p.Gly633=) | |
| 10 | g.104053072C>G | CA378070065 | COL17A1 | c.1898G>C (p.Gly633Ala) | |
| 10 | g.104053072C>T | CA258054 | COL17A1 | c.1898G>A (p.Gly633Asp) | ClinVar dbSNP |
| 10 | g.104053073C>A | CA378070066 | COL17A1 | c.1897G>T (p.Gly633Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053073C= | CA1933402954 | COL17A1 | c.1897G= (p.Gly633=) | |
| 10 | g.104053073C>G | CA378070067 | COL17A1 | c.1897G>C (p.Gly633Arg) | |
| 10 | g.104053073C>T | CA378070068 | COL17A1 | c.1897G>A (p.Gly633Ser) | gnomAD v4 |
| 10 | g.104053074A>C | CA471337318 | COL17A1 | c.1896T>G (p.Arg632=) | |
| 10 | g.104053074A>G | CA471337319 | COL17A1 | c.1896T>C (p.Arg632=) | |
| 10 | g.104053074A>T | CA471337320 | COL17A1 | c.1896T>A (p.Arg632=) | |
| 10 | g.104053075C>A | CA378070069 | COL17A1 | c.1895G>T (p.Arg632Leu) | gnomAD v4 |
| 10 | g.104053075C= | CA1933402959 | COL17A1 | c.1895G= (p.Arg632=) | |
| 10 | g.104053075C>G | CA378070070 | COL17A1 | c.1895G>C (p.Arg632Pro) | |
| 10 | g.104053075C>T | CA5678818 | COL17A1 | c.1895G>A (p.Arg632His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.104053076G>A | CA378070072 | COL17A1 | c.1894C>T (p.Arg632Cys) | gnomAD v4 |
| 10 | g.104053076G>C | CA378070071 | COL17A1 | c.1894C>G (p.Arg632Gly) | gnomAD v4 |
| 10 | g.104053076G>T | CA378070073 | COL17A1 | c.1894C>A (p.Arg632Ser) | gnomAD v4 |
| 10 | g.104053077A= | CA1933402963 | COL17A1 | c.1893T= (p.Pro631=) | |
| 10 | g.104053077A>C | CA471337321 | COL17A1 | c.1893T>G (p.Pro631=) | |
| 10 | g.104053077A>G | CA471337322 | COL17A1 | c.1893T>C (p.Pro631=) | |
| 10 | g.104053077A>T | CA471337324 | COL17A1 | c.1893T>A (p.Pro631=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053078G>A | CA378070074 | COL17A1 | c.1892C>T (p.Pro631Leu) | dbSNP gnomAD v4 |
| 10 | g.104053078G>C | CA378070075 | COL17A1 | c.1892C>G (p.Pro631Arg) | |
| 10 | g.104053078G= | CA1933402965 | COL17A1 | c.1892C= (p.Pro631=) | |
| 10 | g.104053078G>T | CA378070076 | COL17A1 | c.1892C>A (p.Pro631His) | gnomAD v4 |
| 10 | g.104053079G>A | CA378070077 | COL17A1 | c.1891C>T (p.Pro631Ser) | gnomAD v4 |
| 10 | g.104053079G>C | CA378070078 | COL17A1 | c.1891C>G (p.Pro631Ala) | |
| 10 | g.104053079G= | CA1933402969 | COL17A1 | c.1891C= (p.Pro631=) | |
| 10 | g.104053079G>T | CA378070079 | COL17A1 | c.1891C>A (p.Pro631Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104053080T>A | CA471337326 | COL17A1 | c.1890A>T (p.Gly630=) | gnomAD v4 |
| 10 | g.104053080T>C | CA471337327 | COL17A1 | c.1890A>G (p.Gly630=) | |
| 10 | g.104053080T>G | CA471337325 | COL17A1 | c.1890A>C (p.Gly630=) | |
| 10 | g.104053080_104053107delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG | CA1933402971 | COL17A1 | c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA (p.Gly621=) | |
| 10 | g.104053081C>A | CA378070080 | COL17A1 | c.1889G>T (p.Gly630Val) | |
| 10 | g.104053081C= | CA1933402977 | COL17A1 | c.1889G= (p.Gly630=) | |
| 10 | g.104053081C>G | CA5678820 | COL17A1 | c.1889G>C (p.Gly630Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053081C>T | CA378070081 | COL17A1 | c.1889G>A (p.Gly630Glu) | gnomAD v4 |
| 10 | g.104053095_104053121dup | CA2610797659 | COL17A1 | c.1863_1889dup (p.Gly630_Pro631insGlnArgGlyArgGluGlyProMetGly) | gnomAD v4 |
| 10 | g.104053095_104053121del | CA5678819 | COL17A1 | c.1863_1889del (p.Gln622_Gly630del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104053082C>A | CA378070082 | COL17A1 | c.1888G>T (p.Gly630Ter) | |
| 10 | g.104053082C>G | CA378070083 | COL17A1 | c.1888G>C (p.Gly630Arg) | |
| 10 | g.104053082C>T | CA378070084 | COL17A1 | c.1888G>A (p.Gly630Arg) | |
| 10 | g.104053083C>A | CA378070085 | COL17A1 | c.1887G>T (p.Met629Ile) | |
| 10 | g.104053083C>G | CA378070087 | COL17A1 | c.1887G>C (p.Met629Ile) | |
| 10 | g.104053083C>T | CA378070086 | COL17A1 | c.1887G>A (p.Met629Ile) | COSMIC |
| 10 | g.104053084A= | CA1933402987 | COL17A1 | c.1886T= (p.Met629=) | |
| 10 | g.104053084A>C | CA378070088 | COL17A1 | c.1886T>G (p.Met629Arg) | |
| 10 | g.104053084A>G | CA378070089 | COL17A1 | c.1886T>C (p.Met629Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104053084A>T | CA378070090 | COL17A1 | c.1886T>A (p.Met629Lys) | dbSNP gnomAD v2 gnomAD v4 |