Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31070731dup | CA913189076 | DSC2 | c.1818dup (p.Val607SerfsTer?) c.2247dup (p.Val750SerfsTer?) | |
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) | |
18 | g.31070737C>T | CA402112313 | DSC2 | c.1810G>A (p.Asp604Asn) c.2239G>A (p.Asp747Asn) | COSMIC COSMIC |
18 | g.31070738T>A | CA503384706 | DSC2 | c.1809A>T (p.Gly603=) c.2238A>T (p.Gly746=) | |
18 | g.31070738T>C | CA503384707 | DSC2 | c.1809A>G (p.Gly603=) c.2238A>G (p.Gly746=) | |
18 | g.31070738T>G | CA503384708 | DSC2 | c.1809A>C (p.Gly603=) c.2238A>C (p.Gly746=) | |
18 | g.31070739C>A | CA402112317 | DSC2 | c.1808G>T (p.Gly603Val) c.2237G>T (p.Gly746Val) | |
18 | g.31070739C= | CA2293646646 | DSC2 | c.1808G= (p.Gly603=) c.2237G= (p.Gly746=) | |
18 | g.31070739C>G | CA402112320 | DSC2 | c.1808G>C (p.Gly603Ala) c.2237G>C (p.Gly746Ala) | |
18 | g.31070739C>T | CA035526 | DSC2 | c.1808G>A (p.Gly603Glu) c.2237G>A (p.Gly746Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070740C>A | CA402112322 | DSC2 | c.1807G>T (p.Gly603Ter) c.2236G>T (p.Gly746Ter) | |
18 | g.31070740C= | CA2293646647 | DSC2 | c.1807G= (p.Gly603=) c.2236G= (p.Gly746=) | |
18 | g.31070740C>G | CA402112324 | DSC2 | c.1807G>C (p.Gly603Arg) c.2236G>C (p.Gly746Arg) | |
18 | g.31070740C>T | CA402112326 | DSC2 | c.1807G>A (p.Gly603Arg) c.2236G>A (p.Gly746Arg) | ClinVar dbSNP |
18 | g.31070741A>C | CA503384709 | DSC2 | c.1806T>G (p.Pro602=) c.2235T>G (p.Pro745=) | |
18 | g.31070741A>G | CA503384710 | DSC2 | c.1806T>C (p.Pro602=) c.2235T>C (p.Pro745=) | |
18 | g.31070741A>T | CA503384711 | DSC2 | c.1806T>A (p.Pro602=) c.2235T>A (p.Pro745=) | COSMIC COSMIC |
18 | g.31070741_31070742delinsAG | CA2293646648 | DSC2 | c.1805_1806delinsCT (p.Pro602=) c.2234_2235delinsCT (p.Pro745=) | |
18 | g.31070742G>A | CA402112328 | DSC2 | c.1805C>T (p.Pro602Leu) c.2234C>T (p.Pro745Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.31070742G>C | CA402112330 | DSC2 | c.1805C>G (p.Pro602Arg) c.2234C>G (p.Pro745Arg) | |
18 | g.31070742G>T | CA402112332 | DSC2 | c.1805C>A (p.Pro602His) c.2234C>A (p.Pro745His) | |
18 | g.31070743del | CA645372289 | DSC2 | c.1805del (p.Pro602LeufsTer?) c.2234del (p.Pro745LeufsTer?) | dbSNP |
18 | g.31070743G>A | CA402112334 | DSC2 | c.1804C>T (p.Pro602Ser) c.2233C>T (p.Pro745Ser) | dbSNP gnomAD v4 |
18 | g.31070743G>C | CA402112336 | DSC2 | c.1804C>G (p.Pro602Ala) c.2233C>G (p.Pro745Ala) | |
18 | g.31070743G= | CA2293646649 | DSC2 | c.1804C= (p.Pro602=) c.2233C= (p.Pro745=) | |
18 | g.31070743G>T | CA402112338 | DSC2 | c.1804C>A (p.Pro602Thr) c.2233C>A (p.Pro745Thr) | |
18 | g.31070744A>C | CA503384714 | DSC2 | c.1803T>G (p.Ala601=) c.2232T>G (p.Ala744=) | |
18 | g.31070744A>G | CA503384713 | DSC2 | c.1803T>C (p.Ala601=) c.2232T>C (p.Ala744=) |