Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31524460T>A | CA402134858 | DSG2 | n.534T>A c.534T>A c.703T>A (p.Tyr235Asn) c.169T>A (p.Tyr57Asn) | |
18 | g.31524460T>C | CA402134859 | DSG2 | n.534T>C c.534T>C c.703T>C (p.Tyr235His) c.169T>C (p.Tyr57His) | |
18 | g.31524460T>G | CA402134860 | DSG2 | n.534T>G c.534T>G c.703T>G (p.Tyr235Asp) c.169T>G (p.Tyr57Asp) | |
18 | g.31524461A= | CA2293856961 | DSG2 | n.535A= c.535A= c.704A= (p.Tyr235=) c.170A= (p.Tyr57=) | |
18 | g.31524461A>C | CA402134864 | DSG2 | n.535A>C c.535A>C c.704A>C (p.Tyr235Ser) c.170A>C (p.Tyr57Ser) | |
18 | g.31524461A>G | CA022233 | DSG2 | n.535A>G c.535A>G c.704A>G (p.Tyr235Cys) c.170A>G (p.Tyr57Cys) | ClinVar dbSNP gnomAD v4 |
18 | g.31524461A>T | CA402134862 | DSG2 | n.535A>T c.535A>T c.704A>T (p.Tyr235Phe) c.170A>T (p.Tyr57Phe) | |
18 | g.31524463_31524464del | CA2812000571 | DSG2 | n.537_538del c.537_538del c.706_707del (p.Thr236PhefsTer?) c.172_173del (p.Thr58PhefsTer?) | |
18 | g.31524462C>A | CA402134868 | DSG2 | n.536C>A c.536C>A c.705C>A (p.Tyr235Ter) c.171C>A (p.Tyr57Ter) | gnomAD v4 |
18 | g.31524462C= | CA2293856963 | DSG2 | n.536C= c.536C= c.705C= (p.Tyr235=) c.171C= (p.Tyr57=) | |
18 | g.31524462C>G | CA402134866 | DSG2 | n.536C>G c.536C>G c.705C>G (p.Tyr235Ter) c.171C>G (p.Tyr57Ter) | |
18 | g.31524462C>T | CA503598889 | DSG2 | n.536C>T c.536C>T c.705C>T (p.Tyr235=) c.171C>T (p.Tyr57=) | dbSNP |
18 | g.31524463A= | CA2293856965 | DSG2 | n.537A= c.537A= c.706A= (p.Thr236=) c.172A= (p.Thr58=) | |
18 | g.31524463A>C | CA402134875 | DSG2 | n.537A>C c.537A>C c.706A>C (p.Thr236Pro) c.172A>C (p.Thr58Pro) | dbSNP gnomAD v4 |
18 | g.31524463A>G | CA022239 | DSG2 | n.537A>G c.537A>G c.706A>G (p.Thr236Ala) c.172A>G (p.Thr58Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31524463A>T | CA402134874 | DSG2 | n.537A>T c.537A>T c.706A>T (p.Thr236Ser) c.172A>T (p.Thr58Ser) | |
18 | g.31524464C>A | CA402134877 | DSG2 | n.538C>A c.538C>A c.707C>A (p.Thr236Asn) c.173C>A (p.Thr58Asn) | |
18 | g.31524464C= | CA2293856967 | DSG2 | n.538C= c.538C= c.707C= (p.Thr236=) c.173C= (p.Thr58=) | |
18 | g.31524464C>G | CA402134878 | DSG2 | n.538C>G c.538C>G c.707C>G (p.Thr236Ser) c.173C>G (p.Thr58Ser) | |
18 | g.31524464C>T | CA402134881 | DSG2 | n.538C>T c.538C>T c.707C>T (p.Thr236Ile) c.173C>T (p.Thr58Ile) | dbSNP |
18 | g.31524465T>A | CA503598893 | DSG2 | n.539T>A c.539T>A c.708T>A (p.Thr236=) c.174T>A (p.Thr58=) | |
18 | g.31524465T>C | CA503598895 | DSG2 | n.539T>C c.539T>C c.708T>C (p.Thr236=) c.174T>C (p.Thr58=) | |
18 | g.31524465T>G | CA503598897 | DSG2 | n.539T>G c.539T>G c.708T>G (p.Thr236=) c.174T>G (p.Thr58=) | |
18 | g.31524466_31524467dup | CA2641406209 | DSG2 | n.540_541dup c.540_541dup c.709_710dup (p.Leu237PhefsTer2) c.175_176dup (p.Leu59PhefsTer2) | gnomAD v4 |
18 | g.31524466T>A | CA402134882 | DSG2 | n.540T>A c.540T>A c.709T>A (p.Leu237Met) c.175T>A (p.Leu59Met) | |
18 | g.31524466T>C | CA503598899 | DSG2 | n.540T>C c.540T>C c.709T>C (p.Leu237=) c.175T>C (p.Leu59=) | |
18 | g.31524466T>G | CA402134884 | DSG2 | n.540T>G c.540T>G c.709T>G (p.Leu237Val) c.175T>G (p.Leu59Val) | |
18 | g.31524467T>A | CA402134885 | DSG2 | n.541T>A c.541T>A c.710T>A (p.Leu237Ter) c.176T>A (p.Leu59Ter) | |
18 | g.31524467T>C | CA402134886 | DSG2 | n.541T>C c.541T>C c.710T>C (p.Leu237Ser) c.176T>C (p.Leu59Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524467T>G | CA402134887 | DSG2 | n.541T>G c.541T>G c.710T>G (p.Leu237Trp) c.176T>G (p.Leu59Trp) | |
18 | g.31524467T= | CA2293856969 | DSG2 | n.541T= c.541T= c.710T= (p.Leu237=) c.176T= (p.Leu59=) | |
18 | g.31524468G>A | CA503598905 | DSG2 | n.542G>A c.542G>A c.711G>A (p.Leu237=) c.177G>A (p.Leu59=) | gnomAD v4 |
18 | g.31524468G>C | CA402134889 | DSG2 | n.542G>C c.542G>C c.711G>C (p.Leu237Phe) c.177G>C (p.Leu59Phe) | |
18 | g.31524468G>T | CA402134890 | DSG2 | n.542G>T c.542G>T c.711G>T (p.Leu237Phe) c.177G>T (p.Leu59Phe) | |
18 | g.31524469A>C | CA402134895 | DSG2 | n.543A>C c.543A>C c.712A>C (p.Thr238Pro) c.178A>C (p.Thr60Pro) | |
18 | g.31524469A>G | CA402134891 | DSG2 | n.543A>G c.543A>G c.712A>G (p.Thr238Ala) c.178A>G (p.Thr60Ala) | |
18 | g.31524469A>T | CA402134893 | DSG2 | n.543A>T c.543A>T c.712A>T (p.Thr238Ser) c.178A>T (p.Thr60Ser) | |
18 | g.31524470C>A | CA402134896 | DSG2 | n.544C>A c.544C>A c.713C>A (p.Thr238Lys) c.179C>A (p.Thr60Lys) | |
18 | g.31524470C= | CA2293856971 | DSG2 | n.544C= c.544C= c.713C= (p.Thr238=) c.179C= (p.Thr60=) | |
18 | g.31524470C>G | CA402134897 | DSG2 | n.544C>G c.544C>G c.713C>G (p.Thr238Arg) c.179C>G (p.Thr60Arg) | |
18 | g.31524470C>T | CA049798 | DSG2 | n.544C>T c.544C>T c.713C>T (p.Thr238Ile) c.179C>T (p.Thr60Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524471A>C | CA503598913 | DSG2 | n.545A>C c.545A>C c.714A>C (p.Thr238=) c.180A>C (p.Thr60=) | |
18 | g.31524471A>G | CA503598914 | DSG2 | n.545A>G c.545A>G c.714A>G (p.Thr238=) c.180A>G (p.Thr60=) | |
18 | g.31524471A>T | CA503598916 | DSG2 | n.545A>T c.545A>T c.714A>T (p.Thr238=) c.180A>T (p.Thr60=) | |
18 | g.31524473_31524475del | CA2508011680 | DSG2 | n.547_549del c.547_549del c.716_718del (p.Val239del) c.182_184del (p.Val61del) | |
18 | g.31524472G>A | CA402134900 | DSG2 | n.546G>A c.546G>A c.715G>A (p.Val239Ile) c.181G>A (p.Val61Ile) | dbSNP |
18 | g.31524472G>C | CA402134902 | DSG2 | n.546G>C c.546G>C c.715G>C (p.Val239Leu) c.181G>C (p.Val61Leu) | |
18 | g.31524472G= | CA2293856973 | DSG2 | n.546G= c.546G= c.715G= (p.Val239=) c.181G= (p.Val61=) | |
18 | g.31524472G>T | CA402134903 | DSG2 | n.546G>T c.546G>T c.715G>T (p.Val239Leu) c.181G>T (p.Val61Leu) | |
18 | g.31524473T>A | CA402134905 | DSG2 | n.547T>A c.547T>A c.716T>A (p.Val239Glu) c.182T>A (p.Val61Glu) | |
18 | g.31524473T>C | CA022244 | DSG2 | n.547T>C c.547T>C c.716T>C (p.Val239Ala) c.182T>C (p.Val61Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524473T>G | CA402134908 | DSG2 | n.547T>G c.547T>G c.716T>G (p.Val239Gly) c.182T>G (p.Val61Gly) | |
18 | g.31524473T= | CA2293856976 | DSG2 | n.547T= c.547T= c.716T= (p.Val239=) c.182T= (p.Val61=) | |
18 | g.31524474A>C | CA503598917 | DSG2 | n.548A>C c.548A>C c.717A>C (p.Val239=) c.183A>C (p.Val61=) | |
18 | g.31524474A>G | CA503598918 | DSG2 | n.548A>G c.548A>G c.717A>G (p.Val239=) c.183A>G (p.Val61=) | |
18 | g.31524474A>T | CA503598919 | DSG2 | n.548A>T c.548A>T c.717A>T (p.Val239=) c.183A>T (p.Val61=) | |
18 | g.31524475G>A | CA402134909 | DSG2 | n.549G>A c.549G>A c.718G>A (p.Glu240Lys) c.184G>A (p.Glu62Lys) | |
18 | g.31524475G>C | CA402134911 | DSG2 | n.549G>C c.549G>C c.718G>C (p.Glu240Gln) c.184G>C (p.Glu62Gln) | |
18 | g.31524475G>T | CA402134912 | DSG2 | n.549G>T c.549G>T c.718G>T (p.Glu240Ter) c.184G>T (p.Glu62Ter) | |
18 | g.31524476A= | CA2293856978 | DSG2 | n.550A= c.550A= c.719A= (p.Glu240=) c.185A= (p.Glu62=) | |
18 | g.31524476A>C | CA402134917 | DSG2 | n.550A>C c.550A>C c.719A>C (p.Glu240Ala) c.185A>C (p.Glu62Ala) | ClinVar dbSNP gnomAD v4 |
18 | g.31524476A>G | CA402134916 | DSG2 | n.550A>G c.550A>G c.719A>G (p.Glu240Gly) c.185A>G (p.Glu62Gly) | |
18 | g.31524476A>T | CA402134914 | DSG2 | n.550A>T c.550A>T c.719A>T (p.Glu240Val) c.185A>T (p.Glu62Val) | |
18 | g.31524477A= | CA2293856980 | DSG2 | n.551A= c.551A= c.720A= (p.Glu240=) c.186A= (p.Glu62=) | |
18 | g.31524477A>C | CA402134920 | DSG2 | n.551A>C c.551A>C c.720A>C (p.Glu240Asp) c.186A>C (p.Glu62Asp) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524477A>G | CA049816 | DSG2 | n.551A>G c.551A>G c.720A>G (p.Glu240=) c.186A>G (p.Glu62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524477A>T | CA402134918 | DSG2 | n.551A>T c.551A>T c.720A>T (p.Glu240Asp) c.186A>T (p.Glu62Asp) | |
18 | g.31524478G>A | CA049829 | DSG2 | n.552G>A c.552G>A c.721G>A (p.Ala241Thr) c.187G>A (p.Ala63Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524478G>C | CA402134922 | DSG2 | n.552G>C c.552G>C c.721G>C (p.Ala241Pro) c.187G>C (p.Ala63Pro) | ClinVar |
18 | g.31524478G= | CA2293856982 | DSG2 | n.552G= c.552G= c.721G= (p.Ala241=) c.187G= (p.Ala63=) | |
18 | g.31524478G>T | CA402134923 | DSG2 | n.552G>T c.552G>T c.721G>T (p.Ala241Ser) c.187G>T (p.Ala63Ser) | |
18 | g.31524479C>A | CA402134925 | DSG2 | n.553C>A c.553C>A c.722C>A (p.Ala241Glu) c.188C>A (p.Ala63Glu) | |
18 | g.31524479C= | CA2293856984 | DSG2 | n.553C= c.553C= c.722C= (p.Ala241=) c.188C= (p.Ala63=) | |
18 | g.31524479C>G | CA402134927 | DSG2 | n.553C>G c.553C>G c.722C>G (p.Ala241Gly) c.188C>G (p.Ala63Gly) | |
18 | g.31524479C>T | CA049836 | DSG2 | n.553C>T c.553C>T c.722C>T (p.Ala241Val) c.188C>T (p.Ala63Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524480A>C | CA503598929 | DSG2 | n.554A>C c.554A>C c.723A>C (p.Ala241=) c.189A>C (p.Ala63=) | |
18 | g.31524480A>G | CA503598931 | DSG2 | n.554A>G c.554A>G c.723A>G (p.Ala241=) c.189A>G (p.Ala63=) | |
18 | g.31524480A>T | CA503598932 | DSG2 | n.554A>T c.554A>T c.723A>T (p.Ala241=) c.189A>T (p.Ala63=) | |
18 | g.31524481A>C | CA503598933 | DSG2 | n.555A>C c.555A>C c.724A>C (p.Arg242=) c.190A>C (p.Arg64=) | |
18 | g.31524481A>G | CA402134929 | DSG2 | n.555A>G c.555A>G c.724A>G (p.Arg242Gly) c.190A>G (p.Arg64Gly) | |
18 | g.31524481A>T | CA402134931 | DSG2 | n.555A>T c.555A>T c.724A>T (p.Arg242Ter) c.190A>T (p.Arg64Ter) | |
18 | g.31524482G>A | CA402134933 | DSG2 | n.556G>A c.556G>A c.725G>A (p.Arg242Lys) c.191G>A (p.Arg64Lys) | COSMIC |
18 | g.31524482G>C | CA402134934 | DSG2 | n.556G>C c.556G>C c.725G>C (p.Arg242Thr) c.191G>C (p.Arg64Thr) | |
18 | g.31524482G>T | CA402134936 | DSG2 | n.556G>T c.556G>T c.725G>T (p.Arg242Ile) c.191G>T (p.Arg64Ile) | |
18 | g.31524483A>C | CA402134938 | DSG2 | n.557A>C c.557A>C c.726A>C (p.Arg242Ser) c.192A>C (p.Arg64Ser) | |
18 | g.31524483A>G | CA503598940 | DSG2 | n.557A>G c.557A>G c.726A>G (p.Arg242=) c.192A>G (p.Arg64=) | |
18 | g.31524483A>T | CA402134937 | DSG2 | n.557A>T c.557A>T c.726A>T (p.Arg242Ser) c.192A>T (p.Arg64Ser) | |
18 | g.31524484G>A | CA402134940 | DSG2 | n.558G>A c.558G>A c.727G>A (p.Asp243Asn) c.193G>A (p.Asp65Asn) | |
18 | g.31524484G>C | CA402134941 | DSG2 | n.558G>C c.558G>C c.727G>C (p.Asp243His) c.193G>C (p.Asp65His) | |
18 | g.31524484G>T | CA402134943 | DSG2 | n.558G>T c.558G>T c.727G>T (p.Asp243Tyr) c.193G>T (p.Asp65Tyr) | |
18 | g.31524485A>C | CA402134945 | DSG2 | n.559A>C c.559A>C c.728A>C (p.Asp243Ala) c.194A>C (p.Asp65Ala) | |
18 | g.31524485A>G | CA402134947 | DSG2 | n.559A>G c.559A>G c.728A>G (p.Asp243Gly) c.194A>G (p.Asp65Gly) | |
18 | g.31524485A>T | CA402134948 | DSG2 | n.559A>T c.559A>T c.728A>T (p.Asp243Val) c.194A>T (p.Asp65Val) | |
18 | g.31524486T>A | CA402134950 | DSG2 | n.560T>A c.560T>A c.729T>A (p.Asp243Glu) c.195T>A (p.Asp65Glu) | |
18 | g.31524486T>C | CA503598949 | DSG2 | n.560T>C c.560T>C c.729T>C (p.Asp243=) c.195T>C (p.Asp65=) | |
18 | g.31524486T>G | CA402134952 | DSG2 | n.560T>G c.560T>G c.729T>G (p.Asp243Glu) c.195T>G (p.Asp65Glu) | |
18 | g.31524487G>A | CA402134954 | DSG2 | n.561G>A c.561G>A c.730G>A (p.Gly244Ser) c.196G>A (p.Gly66Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31524487G>C | CA049846 | DSG2 | n.561G>C c.561G>C c.730G>C (p.Gly244Arg) c.196G>C (p.Gly66Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524487G= | CA2293856986 | DSG2 | n.561G= c.561G= c.730G= (p.Gly244=) c.196G= (p.Gly66=) | |
18 | g.31524487G>T | CA402134956 | DSG2 | n.561G>T c.561G>T c.730G>T (p.Gly244Cys) c.196G>T (p.Gly66Cys) | |
18 | g.31524488G>A | CA402134958 | DSG2 | n.562G>A c.562G>A c.731G>A (p.Gly244Asp) c.197G>A (p.Gly66Asp) | gnomAD v4 |
18 | g.31524488G>C | CA402134960 | DSG2 | n.562G>C c.562G>C c.731G>C (p.Gly244Ala) c.197G>C (p.Gly66Ala) | |
18 | g.31524488G>T | CA402134961 | DSG2 | n.562G>T c.562G>T c.731G>T (p.Gly244Val) c.197G>T (p.Gly66Val) | |
18 | g.31524489C>A | CA503598961 | DSG2 | n.563C>A c.563C>A c.732C>A (p.Gly244=) c.198C>A (p.Gly66=) | |
18 | g.31524489C>G | CA503598959 | DSG2 | n.563C>G c.563C>G c.732C>G (p.Gly244=) c.198C>G (p.Gly66=) | |
18 | g.31524489C>T | CA503598957 | DSG2 | n.563C>T c.563C>T c.732C>T (p.Gly244=) c.198C>T (p.Gly66=) | |
18 | g.31524490A= | CA2293856989 | DSG2 | n.564A= c.564A= c.733A= (p.Asn245=) c.199A= (p.Asn67=) | |
18 | g.31524490A>C | CA402134964 | DSG2 | n.564A>C c.564A>C c.733A>C (p.Asn245His) c.199A>C (p.Asn67His) | dbSNP gnomAD v2 |
18 | g.31524490A>G | CA402134966 | DSG2 | n.564A>G c.564A>G c.733A>G (p.Asn245Asp) c.199A>G (p.Asn67Asp) | |
18 | g.31524490A>T | CA402134963 | DSG2 | n.564A>T c.564A>T c.733A>T (p.Asn245Tyr) c.199A>T (p.Asn67Tyr) | |
18 | g.31524491A= | CA2293856991 | DSG2 | n.565A= c.565A= c.734A= (p.Asn245=) c.200A= (p.Asn67=) | |
18 | g.31524491A>C | CA402134968 | DSG2 | n.565A>C c.565A>C c.734A>C (p.Asn245Thr) c.200A>C (p.Asn67Thr) | |
18 | g.31524491A>G | CA402134971 | DSG2 | n.565A>G c.565A>G c.734A>G (p.Asn245Ser) c.200A>G (p.Asn67Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.31524491A>T | CA402134970 | DSG2 | n.565A>T c.565A>T c.734A>T (p.Asn245Ile) c.200A>T (p.Asn67Ile) | |
18 | g.31524492T>A | CA402134973 | DSG2 | n.566T>A c.566T>A c.735T>A (p.Asn245Lys) c.201T>A (p.Asn67Lys) | |
18 | g.31524492T>C | CA503598972 | DSG2 | n.566T>C c.566T>C c.735T>C (p.Asn245=) c.201T>C (p.Asn67=) | dbSNP |
18 | g.31524492T>G | CA402134974 | DSG2 | n.566T>G c.566T>G c.735T>G (p.Asn245Lys) c.201T>G (p.Asn67Lys) | |
18 | g.31524492T= | CA2293856994 | DSG2 | n.566T= c.566T= c.735T= (p.Asn245=) c.201T= (p.Asn67=) | |
18 | g.31524493G>A | CA402134976 | DSG2 | n.567G>A c.567G>A c.736G>A (p.Gly246Arg) c.202G>A (p.Gly68Arg) | |
18 | g.31524493G>C | CA402134977 | DSG2 | n.567G>C c.567G>C c.736G>C (p.Gly246Arg) c.202G>C (p.Gly68Arg) | |
18 | g.31524493G>T | CA402134979 | DSG2 | n.567G>T c.567G>T c.736G>T (p.Gly246Ter) c.202G>T (p.Gly68Ter) | |
18 | g.31524494G>A | CA049867 | DSG2 | n.568G>A c.568G>A c.737G>A (p.Gly246Glu) c.203G>A (p.Gly68Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524494G>C | CA402134981 | DSG2 | n.568G>C c.568G>C c.737G>C (p.Gly246Ala) c.203G>C (p.Gly68Ala) | |
18 | g.31524494G= | CA2293856995 | DSG2 | n.568G= c.568G= c.737G= (p.Gly246=) c.203G= (p.Gly68=) | |
18 | g.31524494G>T | CA402134983 | DSG2 | n.568G>T c.568G>T c.737G>T (p.Gly246Val) c.203G>T (p.Gly68Val) | |
18 | g.31524495A>C | CA503598983 | DSG2 | n.569A>C c.569A>C c.738A>C (p.Gly246=) c.204A>C (p.Gly68=) | |
18 | g.31524495A>G | CA503598986 | DSG2 | n.569A>G c.569A>G c.738A>G (p.Gly246=) c.204A>G (p.Gly68=) | |
18 | g.31524495A>T | CA503598984 | DSG2 | n.569A>T c.569A>T c.738A>T (p.Gly246=) c.204A>T (p.Gly68=) | |
18 | g.31524496G>A | CA402134986 | DSG2 | n.570G>A c.570G>A c.739G>A (p.Glu247Lys) c.205G>A (p.Glu69Lys) | |
18 | g.31524496G>C | CA402134987 | DSG2 | n.570G>C c.570G>C c.739G>C (p.Glu247Gln) c.205G>C (p.Glu69Gln) | |
18 | g.31524496G>T | CA402134988 | DSG2 | n.570G>T c.570G>T c.739G>T (p.Glu247Ter) c.205G>T (p.Glu69Ter) | |
18 | g.31524497A>C | CA402134993 | DSG2 | n.571A>C c.571A>C c.740A>C (p.Glu247Ala) c.206A>C (p.Glu69Ala) | |
18 | g.31524497A>G | CA402134991 | DSG2 | n.571A>G c.571A>G c.740A>G (p.Glu247Gly) c.206A>G (p.Glu69Gly) | |
18 | g.31524497A>T | CA402134990 | DSG2 | n.571A>T c.571A>T c.740A>T (p.Glu247Val) c.206A>T (p.Glu69Val) | |
18 | g.31524498A>C | CA402134995 | DSG2 | n.572A>C c.572A>C c.741A>C (p.Glu247Asp) c.207A>C (p.Glu69Asp) | |
18 | g.31524498A>G | CA503598996 | DSG2 | n.572A>G c.572A>G c.741A>G (p.Glu247=) c.207A>G (p.Glu69=) | |
18 | g.31524498A>T | CA402134996 | DSG2 | n.572A>T c.572A>T c.741A>T (p.Glu247Asp) c.207A>T (p.Glu69Asp) | |
18 | g.31524498_31524499insT | CA2812000589 | DSG2 | n.572_573insT c.572_573insT c.741_742insT (p.Val248CysfsTer20) c.207_208insT (p.Val70CysfsTer20) | |
18 | g.31524499G>A | CA402134998 | DSG2 | n.573G>A c.573G>A c.742G>A (p.Val248Ile) c.208G>A (p.Val70Ile) | |
18 | g.31524499G>C | CA402134999 | DSG2 | n.573G>C c.573G>C c.742G>C (p.Val248Leu) c.208G>C (p.Val70Leu) | |
18 | g.31524499G>T | CA402135001 | DSG2 | n.573G>T c.573G>T c.742G>T (p.Val248Phe) c.208G>T (p.Val70Phe) | |
18 | g.31524500T>A | CA402135003 | DSG2 | n.574T>A c.574T>A c.743T>A (p.Val248Asp) c.209T>A (p.Val70Asp) | |
18 | g.31524500T>C | CA402135005 | DSG2 | n.574T>C c.574T>C c.743T>C (p.Val248Ala) c.209T>C (p.Val70Ala) | |
18 | g.31524500T>G | CA402135007 | DSG2 | n.574T>G c.574T>G c.743T>G (p.Val248Gly) c.209T>G (p.Val70Gly) | |
18 | g.31524500_31524501insGATCGCCAGG | CA2812000592 | DSG2 | n.574_575insGATCGCCAGG c.574_575insGATCGCCAGG c.743_744insGATCGCCAGG (p.Thr249IlefsTer22) c.209_210insGATCGCCAGG (p.Thr71IlefsTer22) | |
18 | g.31524501T>A | CA503599005 | DSG2 | n.575T>A c.575T>A c.744T>A (p.Val248=) c.210T>A (p.Val70=) | |
18 | g.31524501T>C | CA503599006 | DSG2 | n.575T>C c.575T>C c.744T>C (p.Val248=) c.210T>C (p.Val70=) | |
18 | g.31524501T>G | CA503599007 | DSG2 | n.575T>G c.575T>G c.744T>G (p.Val248=) c.210T>G (p.Val70=) | |
18 | g.31524501T= | CA2293856997 | DSG2 | n.575T= c.575T= c.744T= (p.Val248=) c.210T= (p.Val70=) | |
18 | g.31524502A= | CA2293856999 | DSG2 | n.576A= c.576A= c.745A= (p.Thr249=) c.211A= (p.Thr71=) | |
18 | g.31524502A>C | CA402135008 | DSG2 | n.576A>C c.576A>C c.745A>C (p.Thr249Pro) c.211A>C (p.Thr71Pro) | |
18 | g.31524502A>G | CA402135009 | DSG2 | n.576A>G c.576A>G c.745A>G (p.Thr249Ala) c.211A>G (p.Thr71Ala) | dbSNP |
18 | g.31524502A>T | CA402135011 | DSG2 | n.576A>T c.576A>T c.745A>T (p.Thr249Ser) c.211A>T (p.Thr71Ser) | COSMIC |
18 | g.31524502dup | CA1139666004 | DSG2 | n.576dup c.576dup c.745dup (p.Thr249AsnfsTer19) c.211dup (p.Thr71AsnfsTer19) | ClinVar dbSNP |
18 | g.31524503C>A | CA402135015 | DSG2 | n.577C>A c.577C>A c.746C>A (p.Thr249Lys) c.212C>A (p.Thr71Lys) | |
18 | g.31524503C= | CA2293857002 | DSG2 | n.577C= c.577C= c.746C= (p.Thr249=) c.212C= (p.Thr71=) | |
18 | g.31524503C>G | CA402135014 | DSG2 | n.577C>G c.577C>G c.746C>G (p.Thr249Arg) c.212C>G (p.Thr71Arg) | |
18 | g.31524503C>T | CA402135013 | DSG2 | n.577C>T c.577C>T c.746C>T (p.Thr249Ile) c.212C>T (p.Thr71Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524504A>C | CA503599014 | DSG2 | n.578A>C c.578A>C c.747A>C (p.Thr249=) c.213A>C (p.Thr71=) | |
18 | g.31524504A>G | CA503599015 | DSG2 | n.578A>G c.578A>G c.747A>G (p.Thr249=) c.213A>G (p.Thr71=) | |
18 | g.31524504A>T | CA503599016 | DSG2 | n.578A>T c.578A>T c.747A>T (p.Thr249=) c.213A>T (p.Thr71=) | |
18 | g.31524505G>A | CA402135017 | DSG2 | n.579G>A c.579G>A c.748G>A (p.Asp250Asn) c.214G>A (p.Asp72Asn) | |
18 | g.31524505G>C | CA402135018 | DSG2 | n.579G>C c.579G>C c.748G>C (p.Asp250His) c.214G>C (p.Asp72His) | ClinVar |
18 | g.31524505G= | CA2293857004 | DSG2 | n.579G= c.579G= c.748G= (p.Asp250=) c.214G= (p.Asp72=) | |
18 | g.31524505G>T | CA402135020 | DSG2 | n.579G>T c.579G>T c.748G>T (p.Asp250Tyr) c.214G>T (p.Asp72Tyr) | ClinVar dbSNP gnomAD v4 |
18 | g.31524506A>C | CA402135022 | DSG2 | n.580A>C c.580A>C c.749A>C (p.Asp250Ala) c.215A>C (p.Asp72Ala) | |
18 | g.31524506A>G | CA402135023 | DSG2 | n.580A>G c.580A>G c.749A>G (p.Asp250Gly) c.215A>G (p.Asp72Gly) | gnomAD v4 |
18 | g.31524506A>T | CA402135025 | DSG2 | n.580A>T c.580A>T c.749A>T (p.Asp250Val) c.215A>T (p.Asp72Val) | |
18 | g.31524507C>A | CA402135027 | DSG2 | n.581C>A c.581C>A c.750C>A (p.Asp250Glu) c.216C>A (p.Asp72Glu) | |
18 | g.31524507C= | CA2293857005 | DSG2 | n.581C= c.581C= c.750C= (p.Asp250=) c.216C= (p.Asp72=) | |
18 | g.31524507C>G | CA402135028 | DSG2 | n.581C>G c.581C>G c.750C>G (p.Asp250Glu) c.216C>G (p.Asp72Glu) | dbSNP |
18 | g.31524507C>T | CA503599024 | DSG2 | n.581C>T c.581C>T c.750C>T (p.Asp250=) c.216C>T (p.Asp72=) | |
18 | g.31524508A>C | CA402135030 | DSG2 | n.582A>C c.582A>C c.751A>C (p.Lys251Gln) c.217A>C (p.Lys73Gln) | |
18 | g.31524508A>G | CA402135031 | DSG2 | n.582A>G c.582A>G c.751A>G (p.Lys251Glu) c.217A>G (p.Lys73Glu) | |
18 | g.31524508A>T | CA402135033 | DSG2 | n.582A>T c.582A>T c.751A>T (p.Lys251Ter) c.217A>T (p.Lys73Ter) | |
18 | g.31524509A>C | CA402135035 | DSG2 | n.583A>C c.583A>C c.752A>C (p.Lys251Thr) c.218A>C (p.Lys73Thr) | |
18 | g.31524509A>G | CA402135036 | DSG2 | n.583A>G c.583A>G c.752A>G (p.Lys251Arg) c.218A>G (p.Lys73Arg) | |
18 | g.31524509A>T | CA402135038 | DSG2 | n.583A>T c.583A>T c.752A>T (p.Lys251Ile) c.218A>T (p.Lys73Ile) | |
18 | g.31524510A>C | CA402135040 | DSG2 | n.584A>C c.584A>C c.753A>C (p.Lys251Asn) c.219A>C (p.Lys73Asn) | |
18 | g.31524510A>G | CA503599025 | DSG2 | n.584A>G c.584A>G c.753A>G (p.Lys251=) c.219A>G (p.Lys73=) | |
18 | g.31524510A>T | CA402135043 | DSG2 | n.584A>T c.584A>T c.753A>T (p.Lys251Asn) c.219A>T (p.Lys73Asn) | |
18 | g.31524511C>A | CA402135045 | DSG2 | n.585C>A c.585C>A c.754C>A (p.Pro252Thr) c.220C>A (p.Pro74Thr) | |
18 | g.31524511C>G | CA402135047 | DSG2 | n.585C>G c.585C>G c.754C>G (p.Pro252Ala) c.220C>G (p.Pro74Ala) | |
18 | g.31524511C>T | CA402135048 | DSG2 | n.585C>T c.585C>T c.754C>T (p.Pro252Ser) c.220C>T (p.Pro74Ser) | |
18 | g.31524512C>A | CA402135054 | DSG2 | n.586C>A c.586C>A c.755C>A (p.Pro252His) c.221C>A (p.Pro74His) | |
18 | g.31524512C= | CA2293857007 | DSG2 | n.586C= c.586C= c.755C= (p.Pro252=) c.221C= (p.Pro74=) | |
18 | g.31524512C>G | CA402135055 | DSG2 | n.586C>G c.586C>G c.755C>G (p.Pro252Arg) c.221C>G (p.Pro74Arg) | gnomAD v4 |
18 | g.31524512C>T | CA297731880 | DSG2 | n.586C>T c.586C>T c.755C>T (p.Pro252Leu) c.221C>T (p.Pro74Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.31524513T>A | CA503599034 | DSG2 | n.587T>A c.587T>A c.756T>A (p.Pro252=) c.222T>A (p.Pro74=) | |
18 | g.31524513T>C | CA503599036 | DSG2 | n.587T>C c.587T>C c.756T>C (p.Pro252=) c.222T>C (p.Pro74=) | |
18 | g.31524513T>G | CA503599038 | DSG2 | n.587T>G c.587T>G c.756T>G (p.Pro252=) c.222T>G (p.Pro74=) | ClinVar |
18 | g.31524514G>A | CA402135059 | DSG2 | n.588G>A c.588G>A c.757G>A (p.Val253Ile) c.223G>A (p.Val75Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524514G>C | CA402135060 | DSG2 | n.588G>C c.588G>C c.757G>C (p.Val253Leu) c.223G>C (p.Val75Leu) | |
18 | g.31524514G= | CA2293857009 | DSG2 | n.588G= c.588G= c.757G= (p.Val253=) c.223G= (p.Val75=) | |
18 | g.31524514G>T | CA402135061 | DSG2 | n.588G>T c.588G>T c.757G>T (p.Val253Leu) c.223G>T (p.Val75Leu) | |
18 | g.31524515T>A | CA402135063 | DSG2 | n.589T>A c.589T>A c.758T>A (p.Val253Glu) c.224T>A (p.Val75Glu) | |
18 | g.31524515T>C | CA402135065 | DSG2 | n.589T>C c.589T>C c.758T>C (p.Val253Ala) c.224T>C (p.Val75Ala) | gnomAD v3 gnomAD v4 |
18 | g.31524515T>G | CA402135067 | DSG2 | n.589T>G c.589T>G c.758T>G (p.Val253Gly) c.224T>G (p.Val75Gly) | |
18 | g.31524516A>C | CA503599048 | DSG2 | n.590A>C c.590A>C c.759A>C (p.Val253=) c.225A>C (p.Val75=) | |
18 | g.31524516A>G | CA503599050 | DSG2 | n.590A>G c.590A>G c.759A>G (p.Val253=) c.225A>G (p.Val75=) | ClinVar gnomAD v4 |
18 | g.31524516A>T | CA503599046 | DSG2 | n.590A>T c.590A>T c.759A>T (p.Val253=) c.225A>T (p.Val75=) | |
18 | g.31524517A>C | CA402135070 | DSG2 | n.591A>C c.591A>C c.760A>C (p.Lys254Gln) c.226A>C (p.Lys76Gln) | |
18 | g.31524517A>G | CA402135071 | DSG2 | n.591A>G c.591A>G c.760A>G (p.Lys254Glu) c.226A>G (p.Lys76Glu) | |
18 | g.31524517A>T | CA402135068 | DSG2 | n.591A>T c.591A>T c.760A>T (p.Lys254Ter) c.226A>T (p.Lys76Ter) | |
18 | g.31524519_31524522del | CA2641406210 | DSG2 | n.593_596del c.593_596del c.762_765del (p.Gln255LeufsTer16) c.228_231del (p.Gln77LeufsTer16) | gnomAD v4 |
18 | g.31524518A>C | CA402135073 | DSG2 | n.592A>C c.592A>C c.761A>C (p.Lys254Thr) c.227A>C (p.Lys76Thr) | |
18 | g.31524518A>G | CA402135076 | DSG2 | n.592A>G c.592A>G c.761A>G (p.Lys254Arg) c.227A>G (p.Lys76Arg) | gnomAD v4 |
18 | g.31524518A>T | CA402135075 | DSG2 | n.592A>T c.592A>T c.761A>T (p.Lys254Ile) c.227A>T (p.Lys76Ile) | |
18 | g.31524519A>C | CA402135078 | DSG2 | n.593A>C c.593A>C c.762A>C (p.Lys254Asn) c.228A>C (p.Lys76Asn) | |
18 | g.31524519A>G | CA503599058 | DSG2 | n.593A>G c.593A>G c.762A>G (p.Lys254=) c.228A>G (p.Lys76=) | ClinVar |
18 | g.31524519A>T | CA402135080 | DSG2 | n.593A>T c.593A>T c.762A>T (p.Lys254Asn) c.228A>T (p.Lys76Asn) | |
18 | g.31524520C>A | CA402135082 | DSG2 | n.594C>A c.594C>A c.763C>A (p.Gln255Lys) c.229C>A (p.Gln77Lys) | |
18 | g.31524520C= | CA2293857011 | DSG2 | n.594C= c.594C= c.763C= (p.Gln255=) c.229C= (p.Gln77=) | |
18 | g.31524520C>G | CA402135084 | DSG2 | n.594C>G c.594C>G c.763C>G (p.Gln255Glu) c.229C>G (p.Gln77Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524520C>T | CA402135086 | DSG2 | n.594C>T c.594C>T c.763C>T (p.Gln255Ter) c.229C>T (p.Gln77Ter) | |
18 | g.31524521A= | CA2293857013 | DSG2 | n.595A= c.595A= c.764A= (p.Gln255=) c.230A= (p.Gln77=) | |
18 | g.31524521A>C | CA402135087 | DSG2 | n.595A>C c.595A>C c.764A>C (p.Gln255Pro) c.230A>C (p.Gln77Pro) | |
18 | g.31524521A>G | CA402135089 | DSG2 | n.595A>G c.595A>G c.764A>G (p.Gln255Arg) c.230A>G (p.Gln77Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524521A>T | CA402135091 | DSG2 | n.595A>T c.595A>T c.764A>T (p.Gln255Leu) c.230A>T (p.Gln77Leu) | |
18 | g.31524522A>C | CA402135092 | DSG2 | n.596A>C c.596A>C c.765A>C (p.Gln255His) c.231A>C (p.Gln77His) | |
18 | g.31524522A>G | CA503599069 | DSG2 | n.596A>G c.596A>G c.765A>G (p.Gln255=) c.231A>G (p.Gln77=) | |
18 | g.31524522A>T | CA402135094 | DSG2 | n.596A>T c.596A>T c.765A>T (p.Gln255His) c.231A>T (p.Gln77His) | |
18 | g.31524523G>A | CA402135095 | DSG2 | n.597G>A c.597G>A c.766G>A (p.Ala256Thr) c.232G>A (p.Ala78Thr) | |
18 | g.31524523G>C | CA402135097 | DSG2 | n.597G>C c.597G>C c.766G>C (p.Ala256Pro) c.232G>C (p.Ala78Pro) | |
18 | g.31524523G>T | CA402135099 | DSG2 | n.597G>T c.597G>T c.766G>T (p.Ala256Ser) c.232G>T (p.Ala78Ser) | |
18 | g.31524524C>A | CA402135103 | DSG2 | n.598C>A c.598C>A c.767C>A (p.Ala256Asp) c.233C>A (p.Ala78Asp) | |
18 | g.31524524C>G | CA402135102 | DSG2 | n.598C>G c.598C>G c.767C>G (p.Ala256Gly) c.233C>G (p.Ala78Gly) | |
18 | g.31524524C>T | CA402135101 | DSG2 | n.598C>T c.598C>T c.767C>T (p.Ala256Val) c.233C>T (p.Ala78Val) | |
18 | g.31524525T>A | CA503599072 | DSG2 | n.599T>A c.599T>A c.768T>A (p.Ala256=) c.234T>A (p.Ala78=) | |
18 | g.31524525T>C | CA503599073 | DSG2 | n.599T>C c.599T>C c.768T>C (p.Ala256=) c.234T>C (p.Ala78=) | |
18 | g.31524525T>G | CA503599075 | DSG2 | n.599T>G c.599T>G c.768T>G (p.Ala256=) c.234T>G (p.Ala78=) | |
18 | g.31524526C>A | CA402135104 | DSG2 | n.600C>A c.600C>A c.769C>A (p.Gln257Lys) c.235C>A (p.Gln79Lys) | |
18 | g.31524526C= | CA2293857015 | DSG2 | n.600C= c.600C= c.769C= (p.Gln257=) c.235C= (p.Gln79=) | |
18 | g.31524526C>G | CA402135106 | DSG2 | n.600C>G c.600C>G c.769C>G (p.Gln257Glu) c.235C>G (p.Gln79Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524526C>T | CA022251 | DSG2 | n.600C>T c.600C>T c.769C>T (p.Gln257Ter) c.235C>T (p.Gln79Ter) | ClinVar dbSNP |
18 | g.31524527A= | CA2293857017 | DSG2 | n.601A= c.601A= c.770A= (p.Gln257=) c.236A= (p.Gln79=) | |
18 | g.31524527A>C | CA402135109 | DSG2 | n.601A>C c.601A>C c.770A>C (p.Gln257Pro) c.236A>C (p.Gln79Pro) | gnomAD v4 |
18 | g.31524527A>G | CA049874 | DSG2 | n.601A>G c.601A>G c.770A>G (p.Gln257Arg) c.236A>G (p.Gln79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524527A>T | CA402135111 | DSG2 | n.601A>T c.601A>T c.770A>T (p.Gln257Leu) c.236A>T (p.Gln79Leu) | |
18 | g.31524528A>C | CA402135112 | DSG2 | n.602A>C c.602A>C c.771A>C (p.Gln257His) c.237A>C (p.Gln79His) | |
18 | g.31524528A>G | CA503599084 | DSG2 | n.602A>G c.602A>G c.771A>G (p.Gln257=) c.237A>G (p.Gln79=) | |
18 | g.31524528A>T | CA402135114 | DSG2 | n.602A>T c.602A>T c.771A>T (p.Gln257His) c.237A>T (p.Gln79His) | |
18 | g.31524529G>A | CA402135116 | DSG2 | n.603G>A c.603G>A c.772G>A (p.Val258Ile) c.238G>A (p.Val80Ile) | |
18 | g.31524529G>C | CA402135117 | DSG2 | n.603G>C c.603G>C c.772G>C (p.Val258Leu) c.238G>C (p.Val80Leu) | |
18 | g.31524529G= | CA2293857019 | DSG2 | n.603G= c.603G= c.772G= (p.Val258=) c.238G= (p.Val80=) | |
18 | g.31524529G>T | CA16615802 | DSG2 | n.603G>T c.603G>T c.772G>T (p.Val258Phe) c.238G>T (p.Val80Phe) | ClinVar dbSNP gnomAD v4 |
18 | g.31524530T>A | CA402135120 | DSG2 | n.604T>A c.604T>A c.773T>A (p.Val258Asp) c.239T>A (p.Val80Asp) | |
18 | g.31524530T>C | CA402135122 | DSG2 | n.604T>C c.604T>C c.773T>C (p.Val258Ala) c.239T>C (p.Val80Ala) | |
18 | g.31524530T>G | CA402135123 | DSG2 | n.604T>G c.604T>G c.773T>G (p.Val258Gly) c.239T>G (p.Val80Gly) | |
18 | g.31524531T>A | CA503599093 | DSG2 | n.605T>A c.605T>A c.774T>A (p.Val258=) c.240T>A (p.Val80=) | |
18 | g.31524531T>C | CA503599095 | DSG2 | n.605T>C c.605T>C c.774T>C (p.Val258=) c.240T>C (p.Val80=) | |
18 | g.31524531T>G | CA503599097 | DSG2 | n.605T>G c.605T>G c.774T>G (p.Val258=) c.240T>G (p.Val80=) | |
18 | g.31524532C>A | CA402135128 | DSG2 | n.606C>A c.606C>A c.775C>A (p.Gln259Lys) c.241C>A (p.Gln81Lys) | |
18 | g.31524532C= | CA2293857021 | DSG2 | n.606C= c.606C= c.775C= (p.Gln259=) c.241C= (p.Gln81=) | |
18 | g.31524532C>G | CA402135126 | DSG2 | n.606C>G c.606C>G c.775C>G (p.Gln259Glu) c.241C>G (p.Gln81Glu) | dbSNP |
18 | g.31524532C>T | CA402135125 | DSG2 | n.606C>T c.606C>T c.775C>T (p.Gln259Ter) c.241C>T (p.Gln81Ter) | |
18 | g.31524533A>C | CA402135130 | DSG2 | n.607A>C c.607A>C c.776A>C (p.Gln259Pro) c.242A>C (p.Gln81Pro) | |
18 | g.31524533A>G | CA402135131 | DSG2 | n.607A>G c.607A>G c.776A>G (p.Gln259Arg) c.242A>G (p.Gln81Arg) | |
18 | g.31524533A>T | CA402135132 | DSG2 | n.607A>T c.607A>T c.776A>T (p.Gln259Leu) c.242A>T (p.Gln81Leu) | |
18 | g.31524534G>A | CA503599105 | DSG2 | n.608G>A c.608G>A c.777G>A (p.Gln259=) c.243G>A (p.Gln81=) | COSMIC |
18 | g.31524534G>C | CA402135134 | DSG2 | n.608G>C c.608G>C c.777G>C (p.Gln259His) c.243G>C (p.Gln81His) | |
18 | g.31524534G>T | CA402135135 | DSG2 | n.608G>T c.608G>T c.777G>T (p.Gln259His) c.243G>T (p.Gln81His) | |
18 | g.31524535A>C | CA402135137 | DSG2 | n.609A>C c.609A>C c.778A>C (p.Ile260Leu) c.244A>C (p.Ile82Leu) | |
18 | g.31524535A>G | CA402135138 | DSG2 | n.609A>G c.609A>G c.778A>G (p.Ile260Val) c.244A>G (p.Ile82Val) | |
18 | g.31524535A>T | CA402135140 | DSG2 | n.609A>T c.609A>T c.778A>T (p.Ile260Phe) c.244A>T (p.Ile82Phe) | |
18 | g.31524536T>A | CA402135142 | DSG2 | n.610T>A c.610T>A c.779T>A (p.Ile260Asn) c.245T>A (p.Ile82Asn) | |
18 | g.31524536T>C | CA402135144 | DSG2 | n.610T>C c.610T>C c.779T>C (p.Ile260Thr) c.245T>C (p.Ile82Thr) | |
18 | g.31524536T>G | CA402135145 | DSG2 | n.610T>G c.610T>G c.779T>G (p.Ile260Ser) c.245T>G (p.Ile82Ser) | |
18 | g.31524537T>A | CA503599116 | DSG2 | n.611T>A c.611T>A c.780T>A (p.Ile260=) c.246T>A (p.Ile82=) | |
18 | g.31524537T>C | CA503599113 | DSG2 | n.611T>C c.611T>C c.780T>C (p.Ile260=) c.246T>C (p.Ile82=) | dbSNP |
18 | g.31524537T>G | CA402135147 | DSG2 | n.611T>G c.611T>G c.780T>G (p.Ile260Met) c.246T>G (p.Ile82Met) | gnomAD v4 |
18 | g.31524538C>A | CA402135151 | DSG2 | n.612C>A c.612C>A c.781C>A (p.Arg261Ser) c.247C>A (p.Arg83Ser) | |
18 | g.31524538C= | CA2293857023 | DSG2 | n.612C= c.612C= c.781C= (p.Arg261=) c.247C= (p.Arg83=) | |
18 | g.31524538C>G | CA402135150 | DSG2 | n.612C>G c.612C>G c.781C>G (p.Arg261Gly) c.247C>G (p.Arg83Gly) | |
18 | g.31524538C>T | CA297731895 | DSG2 | n.612C>T c.612C>T c.781C>T (p.Arg261Cys) c.247C>T (p.Arg83Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.31524539G>A | CA022257 | DSG2 | n.613G>A c.613G>A c.782G>A (p.Arg261His) c.248G>A (p.Arg83His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31524539G>C | CA402135154 | DSG2 | n.613G>C c.613G>C c.782G>C (p.Arg261Pro) c.248G>C (p.Arg83Pro) | |
18 | g.31524539G= | CA2293857025 | DSG2 | n.613G= c.613G= c.782G= (p.Arg261=) c.248G= (p.Arg83=) | |
18 | g.31524539G>T | CA049879 | DSG2 | n.613G>T c.613G>T c.782G>T (p.Arg261Leu) c.248G>T (p.Arg83Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524540T>A | CA049892 | DSG2 | n.614T>A c.614T>A c.783T>A (p.Arg261=) c.249T>A (p.Arg83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524540T>C | CA503599125 | DSG2 | n.614T>C c.614T>C c.783T>C (p.Arg261=) c.249T>C (p.Arg83=) | |
18 | g.31524540T>G | CA503599126 | DSG2 | n.614T>G c.614T>G c.783T>G (p.Arg261=) c.249T>G (p.Arg83=) | |
18 | g.31524540T= | CA2293857030 | DSG2 | n.614T= c.614T= c.783T= (p.Arg261=) c.249T= (p.Arg83=) | |
18 | g.31524541A= | CA2293857032 | DSG2 | n.615A= c.615A= c.784A= (p.Ile262=) c.250A= (p.Ile84=) | |
18 | g.31524541A>C | CA402135155 | DSG2 | n.615A>C c.615A>C c.784A>C (p.Ile262Leu) c.250A>C (p.Ile84Leu) | |
18 | g.31524541A>G | CA402135157 | DSG2 | n.615A>G c.615A>G c.784A>G (p.Ile262Val) c.250A>G (p.Ile84Val) | ClinVar dbSNP |
18 | g.31524541A>T | CA402135158 | DSG2 | n.615A>T c.615A>T c.784A>T (p.Ile262Phe) c.250A>T (p.Ile84Phe) | |
18 | g.31524542T>A | CA402135161 | DSG2 | n.616T>A c.616T>A c.785T>A (p.Ile262Asn) c.251T>A (p.Ile84Asn) | |
18 | g.31524542T>C | CA402135162 | DSG2 | n.616T>C c.616T>C c.785T>C (p.Ile262Thr) c.251T>C (p.Ile84Thr) | |
18 | g.31524542T>G | CA402135163 | DSG2 | n.616T>G c.616T>G c.785T>G (p.Ile262Ser) c.251T>G (p.Ile84Ser) | |
18 | g.31524543T>A | CA503599137 | DSG2 | n.617T>A c.617T>A c.786T>A (p.Ile262=) c.252T>A (p.Ile84=) | |
18 | g.31524543T>C | CA503599133 | DSG2 | n.617T>C c.617T>C c.786T>C (p.Ile262=) c.252T>C (p.Ile84=) | |
18 | g.31524543T>G | CA402135165 | DSG2 | n.617T>G c.617T>G c.786T>G (p.Ile262Met) c.252T>G (p.Ile84Met) | |
18 | g.31524544T>A | CA402135166 | DSG2 | n.618T>A c.618T>A c.787T>A (p.Leu263Met) c.253T>A (p.Leu85Met) | |
18 | g.31524544T>C | CA503599140 | DSG2 | n.618T>C c.618T>C c.787T>C (p.Leu263=) c.253T>C (p.Leu85=) | |
18 | g.31524544T>G | CA402135168 | DSG2 | n.618T>G c.618T>G c.787T>G (p.Leu263Val) c.253T>G (p.Leu85Val) | |
18 | g.31524545T>A | CA402135171 | DSG2 | n.619T>A c.619T>A c.788T>A (p.Leu263Ter) c.254T>A (p.Leu85Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31524545T>C | CA402135173 | DSG2 | n.619T>C c.619T>C c.788T>C (p.Leu263Ser) c.254T>C (p.Leu85Ser) | |
18 | g.31524545T>G | CA402135169 | DSG2 | n.619T>G c.619T>G c.788T>G (p.Leu263Trp) c.254T>G (p.Leu85Trp) | gnomAD v4 |
18 | g.31524545T= | CA2293857034 | DSG2 | n.619T= c.619T= c.788T= (p.Leu263=) c.254T= (p.Leu85=) | |
18 | g.31524546G>A | CA503599146 | DSG2 | n.620G>A c.620G>A c.789G>A (p.Leu263=) c.255G>A (p.Leu85=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524546G>C | CA402135175 | DSG2 | n.620G>C c.620G>C c.789G>C (p.Leu263Phe) c.255G>C (p.Leu85Phe) | |
18 | g.31524546G= | CA2293857035 | DSG2 | n.620G= c.620G= c.789G= (p.Leu263=) c.255G= (p.Leu85=) | |
18 | g.31524546G>T | CA402135176 | DSG2 | n.620G>T c.620G>T c.789G>T (p.Leu263Phe) c.255G>T (p.Leu85Phe) | |
18 | g.31524547G>A | CA402135178 | DSG2 | n.621G>A c.621G>A c.790G>A (p.Asp264Asn) c.256G>A (p.Asp86Asn) | gnomAD v4 |
18 | g.31524547G>C | CA402135179 | DSG2 | n.621G>C c.621G>C c.790G>C (p.Asp264His) c.256G>C (p.Asp86His) | |
18 | g.31524547G>T | CA402135180 | DSG2 | n.621G>T c.621G>T c.790G>T (p.Asp264Tyr) c.256G>T (p.Asp86Tyr) | |
18 | g.31524548A= | CA2293857037 | DSG2 | n.622A= c.622A= c.791A= (p.Asp264=) c.257A= (p.Asp86=) | |
18 | g.31524548A>C | CA402135182 | DSG2 | n.622A>C c.622A>C c.791A>C (p.Asp264Ala) c.257A>C (p.Asp86Ala) | |
18 | g.31524548A>G | CA049904 | DSG2 | n.622A>G c.622A>G c.791A>G (p.Asp264Gly) c.257A>G (p.Asp86Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524548A>T | CA402135184 | DSG2 | n.622A>T c.622A>T c.791A>T (p.Asp264Val) c.257A>T (p.Asp86Val) | |
18 | g.31524549T>A | CA353890 | DSG2 | n.623T>A c.623T>A c.792T>A (p.Asp264Glu) c.258T>A (p.Asp86Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31524549T>C | CA503599156 | DSG2 | n.623T>C c.623T>C c.792T>C (p.Asp264=) c.258T>C (p.Asp86=) | |
18 | g.31524549T>G | CA402135186 | DSG2 | n.623T>G c.623T>G c.792T>G (p.Asp264Glu) c.258T>G (p.Asp86Glu) | |
18 | g.31524549T= | CA2293857039 | DSG2 | n.623T= c.623T= c.792T= (p.Asp264=) c.258T= (p.Asp86=) | |
18 | g.31524550G>A | CA402135188 | DSG2 | n.624G>A c.624G>A c.793G>A (p.Val265Ile) c.259G>A (p.Val87Ile) | |
18 | g.31524550G>C | CA402135190 | DSG2 | n.624G>C c.624G>C c.793G>C (p.Val265Leu) c.259G>C (p.Val87Leu) | |
18 | g.31524550G= | CA2293857040 | DSG2 | n.624G= c.624G= c.793G= (p.Val265=) c.259G= (p.Val87=) | |
18 | g.31524550G>T | CA402135192 | DSG2 | n.624G>T c.624G>T c.793G>T (p.Val265Phe) c.259G>T (p.Val87Phe) | dbSNP |
18 | g.31524551T>A | CA297731928 | DSG2 | n.625T>A c.625T>A c.794T>A (p.Val265Asp) c.260T>A (p.Val87Asp) | ClinVar dbSNP |
18 | g.31524551T>C | CA402135195 | DSG2 | n.625T>C c.625T>C c.794T>C (p.Val265Ala) c.260T>C (p.Val87Ala) | |
18 | g.31524551T>G | CA402135193 | DSG2 | n.625T>G c.625T>G c.794T>G (p.Val265Gly) c.260T>G (p.Val87Gly) | |
18 | g.31524551T= | CA2293857042 | DSG2 | n.625T= c.625T= c.794T= (p.Val265=) c.260T= (p.Val87=) | |
18 | g.31524552C>A | CA503599166 | DSG2 | n.626C>A c.626C>A c.795C>A (p.Val265=) c.261C>A (p.Val87=) | |
18 | g.31524552C= | CA2293857044 | DSG2 | n.626C= c.626C= c.795C= (p.Val265=) c.261C= (p.Val87=) | |
18 | g.31524552C>G | CA049923 | DSG2 | n.626C>G c.626C>G c.795C>G (p.Val265=) c.261C>G (p.Val87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31524552C>T | CA503599169 | DSG2 | n.626C>T c.626C>T c.795C>T (p.Val265=) c.261C>T (p.Val87=) | |
18 | g.31524553A>C | CA402135198 | DSG2 | n.627A>C c.627A>C c.796A>C (p.Asn266His) c.262A>C (p.Asn88His) | |
18 | g.31524553A>G | CA402135200 | DSG2 | n.627A>G c.627A>G c.796A>G (p.Asn266Asp) c.262A>G (p.Asn88Asp) | |
18 | g.31524553A>T | CA402135201 | DSG2 | n.627A>T c.627A>T c.796A>T (p.Asn266Tyr) c.262A>T (p.Asn88Tyr) | |
18 | g.31524554A= | CA2293857047 | DSG2 | n.628A= c.628A= c.797A= (p.Asn266=) c.263A= (p.Asn88=) | |
18 | g.31524554A>C | CA402135203 | DSG2 | n.628A>C c.628A>C c.797A>C (p.Asn266Thr) c.263A>C (p.Asn88Thr) | |
18 | g.31524554A>G | CA022263 | DSG2 | n.628A>G c.628A>G c.797A>G (p.Asn266Ser) c.263A>G (p.Asn88Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31524554A>T | CA402135204 | DSG2 | n.628A>T c.628A>T c.797A>T (p.Asn266Ile) c.263A>T (p.Asn88Ile) | gnomAD v4 |
18 | g.31524555T>A | CA402135206 | DSG2 | n.629T>A c.629T>A c.798T>A (p.Asn266Lys) c.264T>A (p.Asn88Lys) | |
18 | g.31524555T>C | CA503599170 | DSG2 | n.629T>C c.629T>C c.798T>C (p.Asn266=) c.264T>C (p.Asn88=) | ClinVar dbSNP |
18 | g.31524555T>G | CA402135208 | DSG2 | n.629T>G c.629T>G c.798T>G (p.Asn266Lys) c.264T>G (p.Asn88Lys) | |
18 | g.31524555T= | CA2293857049 | DSG2 | n.629T= c.629T= c.798T= (p.Asn266=) c.264T= (p.Asn88=) | |
18 | g.31524556G>A | CA402135210 | DSG2 | n.630G>A c.630G>A c.799G>A (p.Asp267Asn) c.265G>A (p.Asp89Asn) | |
18 | g.31524556G>C | CA402135212 | DSG2 | n.630G>C c.630G>C c.799G>C (p.Asp267His) c.265G>C (p.Asp89His) | |
18 | g.31524556G>T | CA402135213 | DSG2 | n.630G>T c.630G>T c.799G>T (p.Asp267Tyr) c.265G>T (p.Asp89Tyr) | |
18 | g.31524557A>C | CA402135216 | DSG2 | n.631A>C c.631A>C c.800A>C (p.Asp267Ala) c.266A>C (p.Asp89Ala) | |
18 | g.31524557A>G | CA402135215 | DSG2 | n.631A>G c.631A>G c.800A>G (p.Asp267Gly) c.266A>G (p.Asp89Gly) | ClinVar |
18 | g.31524557A>T | CA402135214 | DSG2 | n.631A>T c.631A>T c.800A>T (p.Asp267Val) c.266A>T (p.Asp89Val) | |
18 | g.31524558C>A | CA402135218 | DSG2 | n.632C>A c.632C>A c.801C>A (p.Asp267Glu) c.267C>A (p.Asp89Glu) | |
18 | g.31524558C>G | CA402135219 | DSG2 | n.632C>G c.632C>G c.801C>G (p.Asp267Glu) c.267C>G (p.Asp89Glu) | |
18 | g.31524558C>T | CA503599171 | DSG2 | n.632C>T c.632C>T c.801C>T (p.Asp267=) c.267C>T (p.Asp89=) | gnomAD v4 |
18 | g.31524559A= | CA2293857051 | DSG2 | n.633A= c.633A= c.802A= (p.Asn268=) c.268A= (p.Asn90=) | |
18 | g.31524559A>C | CA402135221 | DSG2 | n.633A>C c.633A>C c.802A>C (p.Asn268His) c.268A>C (p.Asn90His) | gnomAD v4 |
18 | g.31524559A>G | CA402135223 | DSG2 | n.633A>G c.633A>G c.802A>G (p.Asn268Asp) c.268A>G (p.Asn90Asp) | gnomAD v4 |
18 | g.31524559A>T | CA402135224 | DSG2 | n.633A>T c.633A>T c.802A>T (p.Asn268Tyr) c.268A>T (p.Asn90Tyr) | |
18 | g.31524560A= | CA2293857055 | DSG2 | n.634A= c.634A= c.803A= (p.Asn268=) c.269A= (p.Asn90=) | |
18 | g.31524560A>C | CA402135226 | DSG2 | n.634A>C c.634A>C c.803A>C (p.Asn268Thr) c.269A>C (p.Asn90Thr) | |
18 | g.31524560A>G | CA402135227 | DSG2 | n.634A>G c.634A>G c.803A>G (p.Asn268Ser) c.269A>G (p.Asn90Ser) | |
18 | g.31524560A>T | CA297731937 | DSG2 | n.634A>T c.634A>T c.803A>T (p.Asn268Ile) c.269A>T (p.Asn90Ile) | ClinVar dbSNP gnomAD v4 |
18 | g.31524560_31524567dup | CA1139666005 | DSG2 | n.634_641dup c.634_641dup c.803_810dup (p.Val271IlefsTer4) c.269_276dup (p.Val93IlefsTer4) | ClinVar dbSNP gnomAD v4 |