Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104050642T>A | CA378069483 | COL17A1 | c.2107A>T (p.Met703Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104050642T>C | CA5678696 | COL17A1 | c.2107A>G (p.Met703Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104050642T>G | CA378069484 | COL17A1 | c.2107A>C (p.Met703Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104050642T= | CA1933399797 | COL17A1 | c.2107A= (p.Met703=) | |
10 | g.104050643T>A | CA471349321 | COL17A1 | c.2106A>T (p.Pro702=) | |
10 | g.104050643T>C | CA471349322 | COL17A1 | c.2106A>G (p.Pro702=) | |
10 | g.104050643T>G | CA471349324 | COL17A1 | c.2106A>C (p.Pro702=) | |
10 | g.104050644G>A | CA378069485 | COL17A1 | c.2105C>T (p.Pro702Leu) | dbSNP |
10 | g.104050644G>C | CA378069486 | COL17A1 | c.2105C>G (p.Pro702Arg) | |
10 | g.104050644G= | CA1933399799 | COL17A1 | c.2105C= (p.Pro702=) | |
10 | g.104050644G>T | CA378069487 | COL17A1 | c.2105C>A (p.Pro702Gln) | COSMIC |
10 | g.104050645G>A | CA378069488 | COL17A1 | c.2104C>T (p.Pro702Ser) | |
10 | g.104050645G>C | CA378069489 | COL17A1 | c.2104C>G (p.Pro702Ala) | |
10 | g.104050645G= | CA1933399803 | COL17A1 | c.2104C= (p.Pro702=) | |
10 | g.104050645G>T | CA5678697 | COL17A1 | c.2104C>A (p.Pro702Thr) | dbSNP ExAC |
10 | g.104050646T>A | CA471349335 | COL17A1 | c.2103A>T (p.Gly701=) | |
10 | g.104050646T>C | CA471349337 | COL17A1 | c.2103A>G (p.Gly701=) | |
10 | g.104050646T>G | CA471349339 | COL17A1 | c.2103A>C (p.Gly701=) | |
10 | g.104050647C>A | CA378069490 | COL17A1 | c.2102G>T (p.Gly701Val) | gnomAD v4 |
10 | g.104050647C>G | CA378069491 | COL17A1 | c.2102G>C (p.Gly701Ala) | |
10 | g.104050647C>T | CA378069492 | COL17A1 | c.2102G>A (p.Gly701Glu) | gnomAD v4 |
10 | g.104050648C>A | CA378069493 | COL17A1 | c.2101G>T (p.Gly701Ter) | |
10 | g.104050648C= | CA1933399805 | COL17A1 | c.2101G= (p.Gly701=) | |
10 | g.104050648C>G | CA378069495 | COL17A1 | c.2101G>C (p.Gly701Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.104050648C>T | CA378069494 | COL17A1 | c.2101G>A (p.Gly701Arg) | |
10 | g.104050649T>A | CA378069496 | COL17A1 | c.2100A>T (p.Lys700Asn) | |
10 | g.104050649T>C | CA471349349 | COL17A1 | c.2100A>G (p.Lys700=) | gnomAD v3 gnomAD v4 |
10 | g.104050649T>G | CA378069497 | COL17A1 | c.2100A>C (p.Lys700Asn) | |
10 | g.104050650T>A | CA378069498 | COL17A1 | c.2099A>T (p.Lys700Ile) | |
10 | g.104050650T>C | CA378069499 | COL17A1 | c.2099A>G (p.Lys700Arg) | |
10 | g.104050650T>G | CA378069500 | COL17A1 | c.2099A>C (p.Lys700Thr) | gnomAD v3 gnomAD v4 |
10 | g.104050651T>A | CA378069501 | COL17A1 | c.2098A>T (p.Lys700Ter) | |
10 | g.104050651T>C | CA378069502 | COL17A1 | c.2098A>G (p.Lys700Glu) | |
10 | g.104050651T>G | CA378069503 | COL17A1 | c.2098A>C (p.Lys700Gln) | |
10 | g.104050652G>A | CA471349360 | COL17A1 | c.2097C>T (p.Asp699=) | |
10 | g.104050652G>C | CA378069504 | COL17A1 | c.2097C>G (p.Asp699Glu) | |
10 | g.104050652G>T | CA378069505 | COL17A1 | c.2097C>A (p.Asp699Glu) | |
10 | g.104050653T>A | CA378069506 | COL17A1 | c.2096A>T (p.Asp699Val) | |
10 | g.104050653T>C | CA378069507 | COL17A1 | c.2096A>G (p.Asp699Gly) | |
10 | g.104050653T>G | CA378069508 | COL17A1 | c.2096A>C (p.Asp699Ala) | |
10 | g.104050654C>A | CA378069509 | COL17A1 | c.2095G>T (p.Asp699Tyr) | |
10 | g.104050654C= | CA1933399810 | COL17A1 | c.2095G= (p.Asp699=) | |
10 | g.104050654C>G | CA378069511 | COL17A1 | c.2095G>C (p.Asp699His) | |
10 | g.104050654C>T | CA378069510 | COL17A1 | c.2095G>A (p.Asp699Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104050655A>C | CA471349374 | COL17A1 | c.2094T>G (p.Gly698=) | |
10 | g.104050655A>G | CA471349378 | COL17A1 | c.2094T>C (p.Gly698=) | |
10 | g.104050655A>T | CA471349376 | COL17A1 | c.2094T>A (p.Gly698=) | |
10 | g.104050656C>A | CA378069512 | COL17A1 | c.2093G>T (p.Gly698Val) | |
10 | g.104050656C>G | CA378069513 | COL17A1 | c.2093G>C (p.Gly698Ala) | |
10 | g.104050656C>T | CA378069514 | COL17A1 | c.2093G>A (p.Gly698Asp) | gnomAD v4 |