| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31070724A= | CA2293646638 | DSC2 | c.1821+2T= (n.1821+2T=) c.2250+2T= (n.2250+2T=) | |
| 18 | g.31070724A>C | CA402112258 | DSC2 | c.1821+2T>G (n.1821+2T>G) c.2250+2T>G (n.2250+2T>G) | |
| 18 | g.31070724A>G | CA16620671 | DSC2 | c.1821+2T>C (n.1821+2T>C) c.2250+2T>C (n.2250+2T>C) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070724A>T | CA402112256 | DSC2 | c.1821+2T>A (n.1821+2T>A) c.2250+2T>A (n.2250+2T>A) | |
| 18 | g.31070725C>A | CA402112261 | DSC2 | c.1821+1G>T (n.1821+1G>T) c.2250+1G>T (n.2250+1G>T) | gnomAD v4 |
| 18 | g.31070725C= | CA2293646639 | DSC2 | c.1821+1G= (n.1821+1G=) c.2250+1G= (n.2250+1G=) | |
| 18 | g.31070725C>G | CA402112262 | DSC2 | c.1821+1G>C (n.1821+1G>C) c.2250+1G>C (n.2250+1G>C) | ClinVar dbSNP |
| 18 | g.31070725C>T | CA402112264 | DSC2 | c.1821+1G>A (n.1821+1G>A) c.2250+1G>A (n.2250+1G>A) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070726C>A | CA503384701 | DSC2 | c.1821G>T (p.Val607=) c.2250G>T (p.Val750=) | COSMIC COSMIC |
| 18 | g.31070726C>G | CA503384702 | DSC2 | c.1821G>C (p.Val607=) c.2250G>C (p.Val750=) | |
| 18 | g.31070726C>T | CA503384703 | DSC2 | c.1821G>A (p.Val607=) c.2250G>A (p.Val750=) | |
| 18 | g.31070727A>C | CA402112266 | DSC2 | c.1820T>G (p.Val607Gly) c.2249T>G (p.Val750Gly) | |
| 18 | g.31070727A>G | CA402112268 | DSC2 | c.1820T>C (p.Val607Ala) c.2249T>C (p.Val750Ala) | |
| 18 | g.31070727A>T | CA402112269 | DSC2 | c.1820T>A (p.Val607Glu) c.2249T>A (p.Val750Glu) | |
| 18 | g.31070728C>A | CA402112274 | DSC2 | c.1819G>T (p.Val607Leu) c.2248G>T (p.Val750Leu) | |
| 18 | g.31070728C= | CA2293646640 | DSC2 | c.1819G= (p.Val607=) c.2248G= (p.Val750=) | |
| 18 | g.31070728C>G | CA035580 | DSC2 | c.1819G>C (p.Val607Leu) c.2248G>C (p.Val750Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070728C>T | CA402112273 | DSC2 | c.1819G>A (p.Val607Met) c.2248G>A (p.Val750Met) | ClinVar dbSNP |
| 18 | g.31070729T>A | CA035557 | DSC2 | c.1818A>T (p.Lys606Asn) c.2247A>T (p.Lys749Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070729T>C | CA503384704 | DSC2 | c.1818A>G (p.Lys606=) c.2247A>G (p.Lys749=) | |
| 18 | g.31070729T>G | CA402112277 | DSC2 | c.1818A>C (p.Lys606Asn) c.2247A>C (p.Lys749Asn) | COSMIC COSMIC |
| 18 | g.31070729T= | CA2293646641 | DSC2 | c.1818A= (p.Lys606=) c.2247A= (p.Lys749=) | |
| 18 | g.31070731dup | CA913189076 | DSC2 | c.1818dup (p.Val607SerfsTer?) c.2247dup (p.Val750SerfsTer?) | |
| 18 | g.31070730T>A | CA402112279 | DSC2 | c.1817A>T (p.Lys606Ile) c.2246A>T (p.Lys749Ile) | |
| 18 | g.31070730T>C | CA402112281 | DSC2 | c.1817A>G (p.Lys606Arg) c.2246A>G (p.Lys749Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070730T>G | CA402112283 | DSC2 | c.1817A>C (p.Lys606Thr) c.2246A>C (p.Lys749Thr) | gnomAD v4 |
| 18 | g.31070730T= | CA2293646642 | DSC2 | c.1817A= (p.Lys606=) c.2246A= (p.Lys749=) | |
| 18 | g.31070731T>A | CA402112285 | DSC2 | c.1816A>T (p.Lys606Ter) c.2245A>T (p.Lys749Ter) | |
| 18 | g.31070731T>C | CA402112287 | DSC2 | c.1816A>G (p.Lys606Glu) c.2245A>G (p.Lys749Glu) | gnomAD v4 |
| 18 | g.31070731T>G | CA022646 | DSC2 | c.1816A>C (p.Lys606Gln) c.2245A>C (p.Lys749Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070731T= | CA2293646643 | DSC2 | c.1816A= (p.Lys606=) c.2245A= (p.Lys749=) | |
| 18 | g.31070732G>A | CA10587907 | DSC2 | c.1815C>T (p.Asp605=) c.2244C>T (p.Asp748=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070732G>C | CA402112289 | DSC2 | c.1815C>G (p.Asp605Glu) c.2244C>G (p.Asp748Glu) | |
| 18 | g.31070732G= | CA2293646644 | DSC2 | c.1815C= (p.Asp605=) c.2244C= (p.Asp748=) | |
| 18 | g.31070732G>T | CA402112290 | DSC2 | c.1815C>A (p.Asp605Glu) c.2244C>A (p.Asp748Glu) | |
| 18 | g.31070733T>A | CA402112292 | DSC2 | c.1814A>T (p.Asp605Val) c.2243A>T (p.Asp748Val) | |
| 18 | g.31070733T>C | CA402112294 | DSC2 | c.1814A>G (p.Asp605Gly) c.2243A>G (p.Asp748Gly) | |
| 18 | g.31070733T>G | CA402112296 | DSC2 | c.1814A>C (p.Asp605Ala) c.2243A>C (p.Asp748Ala) | |
| 18 | g.31070734C>A | CA402112297 | DSC2 | c.1813G>T (p.Asp605Tyr) c.2242G>T (p.Asp748Tyr) | dbSNP |
| 18 | g.31070734C>G | CA402112298 | DSC2 | c.1813G>C (p.Asp605His) c.2242G>C (p.Asp748His) | gnomAD v4 |
| 18 | g.31070734C>T | CA402112300 | DSC2 | c.1813G>A (p.Asp605Asn) c.2242G>A (p.Asp748Asn) | |
| 18 | g.31070735A= | CA2293646645 | DSC2 | c.1812T= (p.Asp604=) c.2241T= (p.Asp747=) | |
| 18 | g.31070735A>C | CA402112302 | DSC2 | c.1812T>G (p.Asp604Glu) c.2241T>G (p.Asp747Glu) | |
| 18 | g.31070735A>G | CA503384705 | DSC2 | c.1812T>C (p.Asp604=) c.2241T>C (p.Asp747=) | |
| 18 | g.31070735A>T | CA402112304 | DSC2 | c.1812T>A (p.Asp604Glu) c.2241T>A (p.Asp747Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070736T>A | CA402112309 | DSC2 | c.1811A>T (p.Asp604Val) c.2240A>T (p.Asp747Val) | |
| 18 | g.31070736T>C | CA402112307 | DSC2 | c.1811A>G (p.Asp604Gly) c.2240A>G (p.Asp747Gly) | |
| 18 | g.31070736T>G | CA402112306 | DSC2 | c.1811A>C (p.Asp604Ala) c.2240A>C (p.Asp747Ala) | |
| 18 | g.31070737C>A | CA402112312 | DSC2 | c.1810G>T (p.Asp604Tyr) c.2239G>T (p.Asp747Tyr) | |
| 18 | g.31070737C>G | CA402112315 | DSC2 | c.1810G>C (p.Asp604His) c.2239G>C (p.Asp747His) |