Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
18 | g.31070744A>T | CA503384712 | DSC2 | c.1803T>A (p.Ala601=) c.2232T>A (p.Ala744=) | gnomAD v4 |
18 | g.31070745G>A | CA035502 | DSC2 | c.1802C>T (p.Ala601Val) c.2231C>T (p.Ala744Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070745G>C | CA402112341 | DSC2 | c.1802C>G (p.Ala601Gly) c.2231C>G (p.Ala744Gly) | |
18 | g.31070745G= | CA2293646650 | DSC2 | c.1802C= (p.Ala601=) c.2231C= (p.Ala744=) | |
18 | g.31070745G>T | CA402112342 | DSC2 | c.1802C>A (p.Ala601Asp) c.2231C>A (p.Ala744Asp) | |
18 | g.31070746C>A | CA402112347 | DSC2 | c.1801G>T (p.Ala601Ser) c.2230G>T (p.Ala744Ser) | |
18 | g.31070746C= | CA2293646651 | DSC2 | c.1801G= (p.Ala601=) c.2230G= (p.Ala744=) | |
18 | g.31070746C>G | CA402112351 | DSC2 | c.1801G>C (p.Ala601Pro) c.2230G>C (p.Ala744Pro) | |
18 | g.31070746C>T | CA402112349 | DSC2 | c.1801G>A (p.Ala601Thr) c.2230G>A (p.Ala744Thr) | dbSNP gnomAD v4 |
18 | g.31070747T>A | CA402112353 | DSC2 | c.1800A>T (p.Glu600Asp) c.2229A>T (p.Glu743Asp) | |
18 | g.31070747T>C | CA503384715 | DSC2 | c.1800A>G (p.Glu600=) c.2229A>G (p.Glu743=) | |
18 | g.31070747T>G | CA402112355 | DSC2 | c.1800A>C (p.Glu600Asp) c.2229A>C (p.Glu743Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070747T= | CA2293646652 | DSC2 | c.1800A= (p.Glu600=) c.2229A= (p.Glu743=) | |
18 | g.31070748T>A | CA402112357 | DSC2 | c.1799A>T (p.Glu600Val) c.2228A>T (p.Glu743Val) | |
18 | g.31070748T>C | CA402112359 | DSC2 | c.1799A>G (p.Glu600Gly) c.2228A>G (p.Glu743Gly) | |
18 | g.31070748T>G | CA402112360 | DSC2 | c.1799A>C (p.Glu600Ala) c.2228A>C (p.Glu743Ala) | |
18 | g.31070749C>A | CA402112362 | DSC2 | c.1798G>T (p.Glu600Ter) c.2227G>T (p.Glu743Ter) | |
18 | g.31070749C>G | CA402112364 | DSC2 | c.1798G>C (p.Glu600Gln) c.2227G>C (p.Glu743Gln) | |
18 | g.31070749C>T | CA402112366 | DSC2 | c.1798G>A (p.Glu600Lys) c.2227G>A (p.Glu743Lys) |