Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31541272G>A | CA021644 | DSG2 | c.1959G>A (p.Met653Ile) c.1425G>A (p.Met475Ile) | ClinVar dbSNP |
18 | g.31541272G>C | CA402139676 | DSG2 | c.1959G>C (p.Met653Ile) c.1425G>C (p.Met475Ile) | |
18 | g.31541272G= | CA2293864125 | DSG2 | c.1959G= (p.Met653=) c.1425G= (p.Met475=) | |
18 | g.31541272G>T | CA402139680 | DSG2 | c.1959G>T (p.Met653Ile) c.1425G>T (p.Met475Ile) | |
18 | g.31541273C>A | CA402139683 | DSG2 | c.1960C>A (p.Leu654Met) c.1426C>A (p.Leu476Met) | |
18 | g.31541273C= | CA2293864126 | DSG2 | c.1960C= (p.Leu654=) c.1426C= (p.Leu476=) | |
18 | g.31541273C>G | CA402139686 | DSG2 | c.1960C>G (p.Leu654Val) c.1426C>G (p.Leu476Val) | |
18 | g.31541273C>T | CA044405 | DSG2 | c.1960C>T (p.Leu654=) c.1426C>T (p.Leu476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541274T>A | CA402139695 | DSG2 | c.1961T>A (p.Leu654Gln) c.1427T>A (p.Leu476Gln) | |
18 | g.31541274T>C | CA402139699 | DSG2 | c.1961T>C (p.Leu654Pro) c.1427T>C (p.Leu476Pro) | |
18 | g.31541274T>G | CA402139704 | DSG2 | c.1961T>G (p.Leu654Arg) c.1427T>G (p.Leu476Arg) | |
18 | g.31541275G>A | CA503597163 | DSG2 | c.1962G>A (p.Leu654=) c.1428G>A (p.Leu476=) | |
18 | g.31541275G>C | CA503597164 | DSG2 | c.1962G>C (p.Leu654=) c.1428G>C (p.Leu476=) | |
18 | g.31541275G>T | CA503597165 | DSG2 | c.1962G>T (p.Leu654=) c.1428G>T (p.Leu476=) | |
18 | g.31541276C>A | CA402139720 | DSG2 | c.1963C>A (p.His655Asn) c.1429C>A (p.His477Asn) | |
18 | g.31541276C>G | CA402139716 | DSG2 | c.1963C>G (p.His655Asp) c.1429C>G (p.His477Asp) | |
18 | g.31541276C>T | CA402139711 | DSG2 | c.1963C>T (p.His655Tyr) c.1429C>T (p.His477Tyr) | |
18 | g.31541277A>C | CA402139721 | DSG2 | c.1964A>C (p.His655Pro) c.1430A>C (p.His477Pro) | |
18 | g.31541277A>G | CA402139723 | DSG2 | c.1964A>G (p.His655Arg) c.1430A>G (p.His477Arg) | gnomAD v4 |
18 | g.31541277A>T | CA402139722 | DSG2 | c.1964A>T (p.His655Leu) c.1430A>T (p.His477Leu) | ClinVar gnomAD v4 |
18 | g.31541278T>A | CA402139726 | DSG2 | c.1965T>A (p.His655Gln) c.1431T>A (p.His477Gln) | |
18 | g.31541278T>C | CA503597166 | DSG2 | c.1965T>C (p.His655=) c.1431T>C (p.His477=) | |
18 | g.31541278T>G | CA402139728 | DSG2 | c.1965T>G (p.His655Gln) c.1431T>G (p.His477Gln) | |
18 | g.31541279C>A | CA402139733 | DSG2 | c.1966C>A (p.Pro656Thr) c.1432C>A (p.Pro478Thr) | |
18 | g.31541279C>G | CA402139735 | DSG2 | c.1966C>G (p.Pro656Ala) c.1432C>G (p.Pro478Ala) | |
18 | g.31541279C>T | CA402139736 | DSG2 | c.1966C>T (p.Pro656Ser) c.1432C>T (p.Pro478Ser) | |
18 | g.31541280C>A | CA402139740 | DSG2 | c.1967C>A (p.Pro656His) c.1433C>A (p.Pro478His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31541280C= | CA2293864127 | DSG2 | c.1967C= (p.Pro656=) c.1433C= (p.Pro478=) | |
18 | g.31541280C>G | CA402139744 | DSG2 | c.1967C>G (p.Pro656Arg) c.1433C>G (p.Pro478Arg) | |
18 | g.31541280C>T | CA402139746 | DSG2 | c.1967C>T (p.Pro656Leu) c.1433C>T (p.Pro478Leu) | dbSNP |
18 | g.31541281T>A | CA503597167 | DSG2 | c.1968T>A (p.Pro656=) c.1434T>A (p.Pro478=) | |
18 | g.31541281T>C | CA503597168 | DSG2 | c.1968T>C (p.Pro656=) c.1434T>C (p.Pro478=) | dbSNP |
18 | g.31541281T>G | CA503597169 | DSG2 | c.1968T>G (p.Pro656=) c.1434T>G (p.Pro478=) | |
18 | g.31541281T= | CA2293864128 | DSG2 | c.1968T= (p.Pro656=) c.1434T= (p.Pro478=) | |
18 | g.31541282T>A | CA402139750 | DSG2 | c.1969T>A (p.Trp657Arg) c.1435T>A (p.Trp479Arg) | |
18 | g.31541282T>C | CA402139753 | DSG2 | c.1969T>C (p.Trp657Arg) c.1435T>C (p.Trp479Arg) | |
18 | g.31541282T>G | CA402139756 | DSG2 | c.1969T>G (p.Trp657Gly) c.1435T>G (p.Trp479Gly) | |
18 | g.31541283G>A | CA402139763 | DSG2 | c.1970G>A (p.Trp657Ter) c.1436G>A (p.Trp479Ter) | ClinVar |
18 | g.31541283G>C | CA402139761 | DSG2 | c.1970G>C (p.Trp657Ser) c.1436G>C (p.Trp479Ser) | |
18 | g.31541283G>T | CA402139759 | DSG2 | c.1970G>T (p.Trp657Leu) c.1436G>T (p.Trp479Leu) | |
18 | g.31541284G>A | CA402139766 | DSG2 | c.1971G>A (p.Trp657Ter) c.1437G>A (p.Trp479Ter) | |
18 | g.31541284G>C | CA402139769 | DSG2 | c.1971G>C (p.Trp657Cys) c.1437G>C (p.Trp479Cys) | |
18 | g.31541284G>T | CA402139770 | DSG2 | c.1971G>T (p.Trp657Cys) c.1437G>T (p.Trp479Cys) | |
18 | g.31541285A>C | CA402139771 | DSG2 | c.1972A>C (p.Asn658His) c.1438A>C (p.Asn480His) | |
18 | g.31541285A>G | CA402139772 | DSG2 | c.1972A>G (p.Asn658Asp) c.1438A>G (p.Asn480Asp) | |
18 | g.31541285A>T | CA402139774 | DSG2 | c.1972A>T (p.Asn658Tyr) c.1438A>T (p.Asn480Tyr) | |
18 | g.31541286A>C | CA402139776 | DSG2 | c.1973A>C (p.Asn658Thr) c.1439A>C (p.Asn480Thr) | ClinVar gnomAD v4 |
18 | g.31541286A>G | CA402139778 | DSG2 | c.1973A>G (p.Asn658Ser) c.1439A>G (p.Asn480Ser) | gnomAD v4 |
18 | g.31541286A>T | CA402139781 | DSG2 | c.1973A>T (p.Asn658Ile) c.1439A>T (p.Asn480Ile) | |
18 | g.31541287T>A | CA402139785 | DSG2 | c.1974T>A (p.Asn658Lys) c.1440T>A (p.Asn480Lys) | |
18 | g.31541287T>C | CA044430 | DSG2 | c.1974T>C (p.Asn658=) c.1440T>C (p.Asn480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541287T>G | CA402139791 | DSG2 | c.1974T>G (p.Asn658Lys) c.1440T>G (p.Asn480Lys) | |
18 | g.31541287T= | CA2293864129 | DSG2 | c.1974T= (p.Asn658=) c.1440T= (p.Asn480=) | |
18 | g.31541288A>C | CA402139801 | DSG2 | c.1975A>C (p.Asn659His) c.1441A>C (p.Asn481His) | |
18 | g.31541288A>G | CA402139798 | DSG2 | c.1975A>G (p.Asn659Asp) c.1441A>G (p.Asn481Asp) | |
18 | g.31541288A>T | CA402139796 | DSG2 | c.1975A>T (p.Asn659Tyr) c.1441A>T (p.Asn481Tyr) | |
18 | g.31541289A= | CA2293864130 | DSG2 | c.1976A= (p.Asn659=) c.1442A= (p.Asn481=) | |
18 | g.31541289A>C | CA402139804 | DSG2 | c.1976A>C (p.Asn659Thr) c.1442A>C (p.Asn481Thr) | |
18 | g.31541289A>G | CA402139807 | DSG2 | c.1976A>G (p.Asn659Ser) c.1442A>G (p.Asn481Ser) | gnomAD v4 |
18 | g.31541289A>T | CA044450 | DSG2 | c.1976A>T (p.Asn659Ile) c.1442A>T (p.Asn481Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541290T>A | CA402139814 | DSG2 | c.1977T>A (p.Asn659Lys) c.1443T>A (p.Asn481Lys) | |
18 | g.31541290T>C | CA503597170 | DSG2 | c.1977T>C (p.Asn659=) c.1443T>C (p.Asn481=) | gnomAD v4 |
18 | g.31541290T>G | CA402139816 | DSG2 | c.1977T>G (p.Asn659Lys) c.1443T>G (p.Asn481Lys) | |
18 | g.31541291G>A | CA402139820 | DSG2 | c.1978G>A (p.Glu660Lys) c.1444G>A (p.Glu482Lys) | |
18 | g.31541291G>C | CA402139821 | DSG2 | c.1978G>C (p.Glu660Gln) c.1444G>C (p.Glu482Gln) | |
18 | g.31541291G>T | CA402139822 | DSG2 | c.1978G>T (p.Glu660Ter) c.1444G>T (p.Glu482Ter) | |
18 | g.31541292A>C | CA402139823 | DSG2 | c.1979A>C (p.Glu660Ala) c.1445A>C (p.Glu482Ala) | |
18 | g.31541292A>G | CA402139824 | DSG2 | c.1979A>G (p.Glu660Gly) c.1445A>G (p.Glu482Gly) | |
18 | g.31541292A>T | CA402139826 | DSG2 | c.1979A>T (p.Glu660Val) c.1445A>T (p.Glu482Val) | |
18 | g.31541293A>C | CA402139830 | DSG2 | c.1980A>C (p.Glu660Asp) c.1446A>C (p.Glu482Asp) | |
18 | g.31541293A>G | CA503597171 | DSG2 | c.1980A>G (p.Glu660=) c.1446A>G (p.Glu482=) | COSMIC |
18 | g.31541293A>T | CA402139834 | DSG2 | c.1980A>T (p.Glu660Asp) c.1446A>T (p.Glu482Asp) | |
18 | g.31541294G>A | CA044460 | DSG2 | c.1981G>A (p.Gly661Arg) c.1447G>A (p.Gly483Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541294G>C | CA402139838 | DSG2 | c.1981G>C (p.Gly661Arg) c.1447G>C (p.Gly483Arg) | |
18 | g.31541294G= | CA2293864131 | DSG2 | c.1981G= (p.Gly661=) c.1447G= (p.Gly483=) | |
18 | g.31541294G>T | CA402139841 | DSG2 | c.1981G>T (p.Gly661Ter) c.1447G>T (p.Gly483Ter) | |
18 | g.31541295G>A | CA402139846 | DSG2 | c.1982G>A (p.Gly661Glu) c.1448G>A (p.Gly483Glu) | |
18 | g.31541295G>C | CA402139849 | DSG2 | c.1982G>C (p.Gly661Ala) c.1448G>C (p.Gly483Ala) | |
18 | g.31541295G>T | CA402139850 | DSG2 | c.1982G>T (p.Gly661Val) c.1448G>T (p.Gly483Val) | |
18 | g.31541296A= | CA2293864132 | DSG2 | c.1983A= (p.Gly661=) c.1449A= (p.Gly483=) | |
18 | g.31541296A>C | CA503597172 | DSG2 | c.1983A>C (p.Gly661=) c.1449A>C (p.Gly483=) | ClinVar dbSNP gnomAD v4 |
18 | g.31541296A>G | CA503597173 | DSG2 | c.1983A>G (p.Gly661=) c.1449A>G (p.Gly483=) | |
18 | g.31541296A>T | CA503597174 | DSG2 | c.1983A>T (p.Gly661=) c.1449A>T (p.Gly483=) | |
18 | g.31541297G>A | CA402139854 | DSG2 | c.1984G>A (p.Ala662Thr) c.1450G>A (p.Ala484Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541297G>C | CA402139857 | DSG2 | c.1984G>C (p.Ala662Pro) c.1450G>C (p.Ala484Pro) | gnomAD v4 |
18 | g.31541297G= | CA2293864133 | DSG2 | c.1984G= (p.Ala662=) c.1450G= (p.Ala484=) | |
18 | g.31541297G>T | CA402139859 | DSG2 | c.1984G>T (p.Ala662Ser) c.1450G>T (p.Ala484Ser) | |
18 | g.31541298C>A | CA402139861 | DSG2 | c.1985C>A (p.Ala662Glu) c.1451C>A (p.Ala484Glu) | |
18 | g.31541298C>G | CA402139864 | DSG2 | c.1985C>G (p.Ala662Gly) c.1451C>G (p.Ala484Gly) | |
18 | g.31541298C>T | CA402139869 | DSG2 | c.1985C>T (p.Ala662Val) c.1451C>T (p.Ala484Val) | ClinVar gnomAD v4 |
18 | g.31541299A= | CA2293864134 | DSG2 | c.1986A= (p.Ala662=) c.1452A= (p.Ala484=) | |
18 | g.31541299A>C | CA503597175 | DSG2 | c.1986A>C (p.Ala662=) c.1452A>C (p.Ala484=) | gnomAD v4 |
18 | g.31541299A>G | CA503597176 | DSG2 | c.1986A>G (p.Ala662=) c.1452A>G (p.Ala484=) | ClinVar dbSNP gnomAD v4 |
18 | g.31541299A>T | CA503597177 | DSG2 | c.1986A>T (p.Ala662=) c.1452A>T (p.Ala484=) | |
18 | g.31541300C>A | CA402139873 | DSG2 | c.1987C>A (p.Pro663Thr) c.1453C>A (p.Pro485Thr) | |
18 | g.31541300C= | CA2293864135 | DSG2 | c.1987C= (p.Pro663=) c.1453C= (p.Pro485=) | |
18 | g.31541300C>G | CA402139877 | DSG2 | c.1987C>G (p.Pro663Ala) c.1453C>G (p.Pro485Ala) | gnomAD v4 |
18 | g.31541300C>T | CA402139880 | DSG2 | c.1987C>T (p.Pro663Ser) c.1453C>T (p.Pro485Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31541301C>A | CA297699733 | DSG2 | c.1988C>A (p.Pro663Gln) c.1454C>A (p.Pro485Gln) | dbSNP |
18 | g.31541301C= | CA2293864136 | DSG2 | c.1988C= (p.Pro663=) c.1454C= (p.Pro485=) | |
18 | g.31541301C>G | CA402139886 | DSG2 | c.1988C>G (p.Pro663Arg) c.1454C>G (p.Pro485Arg) | |
18 | g.31541301C>T | CA402139884 | DSG2 | c.1988C>T (p.Pro663Leu) c.1454C>T (p.Pro485Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.31541302A>C | CA503597178 | DSG2 | c.1989A>C (p.Pro663=) c.1455A>C (p.Pro485=) | |
18 | g.31541302A>G | CA503597179 | DSG2 | c.1989A>G (p.Pro663=) c.1455A>G (p.Pro485=) | |
18 | g.31541302A>T | CA503597180 | DSG2 | c.1989A>T (p.Pro663=) c.1455A>T (p.Pro485=) | |
18 | g.31541303C>A | CA402139897 | DSG2 | c.1990C>A (p.Pro664Thr) c.1456C>A (p.Pro486Thr) | |
18 | g.31541303C>G | CA402139902 | DSG2 | c.1990C>G (p.Pro664Ala) c.1456C>G (p.Pro486Ala) | ClinVar |
18 | g.31541303C>T | CA402139900 | DSG2 | c.1990C>T (p.Pro664Ser) c.1456C>T (p.Pro486Ser) | gnomAD v4 |
18 | g.31541304C>A | CA402139912 | DSG2 | c.1991C>A (p.Pro664His) c.1457C>A (p.Pro486His) | |
18 | g.31541304C>G | CA402139914 | DSG2 | c.1991C>G (p.Pro664Arg) c.1457C>G (p.Pro486Arg) | |
18 | g.31541304C>T | CA402139913 | DSG2 | c.1991C>T (p.Pro664Leu) c.1457C>T (p.Pro486Leu) | |
18 | g.31541305T>A | CA503597181 | DSG2 | c.1992T>A (p.Pro664=) c.1458T>A (p.Pro486=) | |
18 | g.31541305T>C | CA503597182 | DSG2 | c.1992T>C (p.Pro664=) c.1458T>C (p.Pro486=) | gnomAD v4 |
18 | g.31541305T>G | CA503597183 | DSG2 | c.1992T>G (p.Pro664=) c.1458T>G (p.Pro486=) | |
18 | g.31541306G>A | CA402139915 | DSG2 | c.1993G>A (p.Glu665Lys) c.1459G>A (p.Glu487Lys) | gnomAD v4 |
18 | g.31541306G>C | CA402139918 | DSG2 | c.1993G>C (p.Glu665Gln) c.1459G>C (p.Glu487Gln) | |
18 | g.31541306G>T | CA402139916 | DSG2 | c.1993G>T (p.Glu665Ter) c.1459G>T (p.Glu487Ter) | |
18 | g.31541307A>C | CA402139920 | DSG2 | c.1994A>C (p.Glu665Ala) c.1460A>C (p.Glu487Ala) | |
18 | g.31541307A>G | CA402139924 | DSG2 | c.1994A>G (p.Glu665Gly) c.1460A>G (p.Glu487Gly) | gnomAD v4 COSMIC |
18 | g.31541307A>T | CA402139921 | DSG2 | c.1994A>T (p.Glu665Val) c.1460A>T (p.Glu487Val) | |
18 | g.31541308A>C | CA402139926 | DSG2 | c.1995A>C (p.Glu665Asp) c.1461A>C (p.Glu487Asp) | |
18 | g.31541308A>G | CA503597184 | DSG2 | c.1995A>G (p.Glu665=) c.1461A>G (p.Glu487=) | ClinVar dbSNP gnomAD v4 |
18 | g.31541308A>T | CA402139934 | DSG2 | c.1995A>T (p.Glu665Asp) c.1461A>T (p.Glu487Asp) | |
18 | g.31541309G>A | CA402139938 | DSG2 | c.1996G>A (p.Asp666Asn) c.1462G>A (p.Asp488Asn) | |
18 | g.31541309G>C | CA044479 | DSG2 | c.1996G>C (p.Asp666His) c.1462G>C (p.Asp488His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541309G= | CA2293864137 | DSG2 | c.1996G= (p.Asp666=) c.1462G= (p.Asp488=) | |
18 | g.31541309G>T | CA402139951 | DSG2 | c.1996G>T (p.Asp666Tyr) c.1462G>T (p.Asp488Tyr) | |
18 | g.31541310A>C | CA402139955 | DSG2 | c.1997A>C (p.Asp666Ala) c.1463A>C (p.Asp488Ala) | |
18 | g.31541310A>G | CA402139956 | DSG2 | c.1997A>G (p.Asp666Gly) c.1463A>G (p.Asp488Gly) | |
18 | g.31541310A>T | CA402139958 | DSG2 | c.1997A>T (p.Asp666Val) c.1463A>T (p.Asp488Val) | |
18 | g.31541311C>A | CA402139961 | DSG2 | c.1998C>A (p.Asp666Glu) c.1464C>A (p.Asp488Glu) | |
18 | g.31541311C= | CA2293864138 | DSG2 | c.1998C= (p.Asp666=) c.1464C= (p.Asp488=) | |
18 | g.31541311C>G | CA402139971 | DSG2 | c.1998C>G (p.Asp666Glu) c.1464C>G (p.Asp488Glu) | |
18 | g.31541311C>T | CA297699734 | DSG2 | c.1998C>T (p.Asp666=) c.1464C>T (p.Asp488=) | ClinVar dbSNP gnomAD v4 |
18 | g.31541312A= | CA2293864139 | DSG2 | c.1999A= (p.Lys667=) c.1465A= (p.Lys489=) | |
18 | g.31541312A>C | CA402139973 | DSG2 | c.1999A>C (p.Lys667Gln) c.1465A>C (p.Lys489Gln) | |
18 | g.31541312A>G | CA402139975 | DSG2 | c.1999A>G (p.Lys667Glu) c.1465A>G (p.Lys489Glu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31541312A>T | CA402139977 | DSG2 | c.1999A>T (p.Lys667Ter) c.1465A>T (p.Lys489Ter) | |
18 | g.31541313A>C | CA402139982 | DSG2 | c.2000A>C (p.Lys667Thr) c.1466A>C (p.Lys489Thr) | |
18 | g.31541313A>G | CA402139988 | DSG2 | c.2000A>G (p.Lys667Arg) c.1466A>G (p.Lys489Arg) | ClinVar dbSNP COSMIC |
18 | g.31541313A>T | CA402139984 | DSG2 | c.2000A>T (p.Lys667Met) c.1466A>T (p.Lys489Met) | |
18 | g.31541313_31541319delinsAGGTCAG | CA2293864140 | DSG2 | c.2000_2001+5delinsAGGTCAG c.1466_1467+5delinsAGGTCAG | |
18 | g.31541314G>A | CA503597185 | DSG2 | c.2001G>A (p.Lys667=) c.1467G>A (p.Lys489=) | ClinVar |
18 | g.31541314G>C | CA402139990 | DSG2 | c.2001G>C (p.Lys667Asn) c.1467G>C (p.Lys489Asn) | |
18 | g.31541314G>T | CA402139997 | DSG2 | c.2001G>T (p.Lys667Asn) c.1467G>T (p.Lys489Asn) | |
18 | g.31541314_31541319del | CA8928347 | DSG2 | c.2001_2001+5del c.1467_1467+5del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541315G>A | CA402140004 | DSG2 | c.2001+1G>A (n.2001+1G>A) c.1467+1G>A (n.1467+1G>A) | ClinVar |
18 | g.31541315G>C | CA402140007 | DSG2 | c.2001+1G>C (n.2001+1G>C) c.1467+1G>C (n.1467+1G>C) | |
18 | g.31541315G>T | CA402140010 | DSG2 | c.2001+1G>T (n.2001+1G>T) c.1467+1G>T (n.1467+1G>T) | ClinVar |
18 | g.31541316T>A | CA402140013 | DSG2 | c.2001+2T>A (n.2001+2T>A) c.1467+2T>A (n.1467+2T>A) | |
18 | g.31541316T>C | CA402140017 | DSG2 | c.2001+2T>C (n.2001+2T>C) c.1467+2T>C (n.1467+2T>C) | gnomAD v4 |
18 | g.31541316T>G | CA402140021 | DSG2 | c.2001+2T>G (n.2001+2T>G) c.1467+2T>G (n.1467+2T>G) | |
18 | g.31541317C>A | CA2641407000 | DSG2 | c.2001+3C>A (n.2001+3C>A) c.1467+3C>A (n.1467+3C>A) | gnomAD v4 |
18 | g.31541317C= | CA2293864141 | DSG2 | c.2001+3C= (n.2001+3C=) c.1467+3C= (n.1467+3C=) | |
18 | g.31541317C>G | CA044562 | DSG2 | c.2001+3C>G (n.2001+3C>G) c.1467+3C>G (n.1467+3C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541317C>T | CA2641407001 | DSG2 | c.2001+3C>T (n.2001+3C>T) c.1467+3C>T (n.1467+3C>T) | ClinVar gnomAD v4 |
18 | g.31541321G>T | CA2839710745 | DSG2 | c.2001+7G>T (n.2001+7G>T) c.1467+7G>T (n.1467+7G>T) | |
18 | g.31541322G>T | CA2842892452 | DSG2 | c.2001+8G>T (n.2001+8G>T) c.1467+8G>T (n.1467+8G>T) | |
18 | g.31541323A= | CA2293864142 | DSG2 | c.2001+9A= (n.2001+9A=) c.1467+9A= (n.1467+9A=) | |
18 | g.31541323A>G | CA044602 | DSG2 | c.2001+9A>G (n.2001+9A>G) c.1467+9A>G (n.1467+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541323A>T | CA629149015 | DSG2 | c.2001+9A>T (n.2001+9A>T) c.1467+9A>T (n.1467+9A>T) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31541324T>C | CA2641407002 | DSG2 | c.2001+10T>C (n.2001+10T>C) c.1467+10T>C (n.1467+10T>C) | gnomAD v4 |
18 | g.31541327G>T | CA2641407003 | DSG2 | c.2001+13G>T (n.2001+13G>T) c.1467+13G>T (n.1467+13G>T) | gnomAD v4 |
18 | g.31541328A= | CA2293864143 | DSG2 | c.2001+14A= (n.2001+14A=) c.1467+14A= (n.1467+14A=) | |
18 | g.31541328A>G | CA988927553 | DSG2 | c.2001+14A>G (n.2001+14A>G) c.1467+14A>G (n.1467+14A>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31541329T>A | CA2641407004 | DSG2 | c.2001+15T>A (n.2001+15T>A) c.1467+15T>A (n.1467+15T>A) | gnomAD v4 |
18 | g.31541329T>C | CA2641407005 | DSG2 | c.2001+15T>C (n.2001+15T>C) c.1467+15T>C (n.1467+15T>C) | gnomAD v4 |
18 | g.31541329T>G | CA2641407006 | DSG2 | c.2001+15T>G (n.2001+15T>G) c.1467+15T>G (n.1467+15T>G) | gnomAD v4 |
18 | g.31541330G>A | CA044491 | DSG2 | c.2001+16G>A (n.2001+16G>A) c.1467+16G>A (n.1467+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541330G= | CA2293864144 | DSG2 | c.2001+16G= (n.2001+16G=) c.1467+16G= (n.1467+16G=) | |
18 | g.31541331T>C | CA2812003734 | DSG2 | c.2001+17T>C (n.2001+17T>C) c.1467+17T>C (n.1467+17T>C) | |
18 | g.31541334del | CA2576480550 | DSG2 | c.2001+20del (n.2001+20del) c.1467+20del (n.1467+20del) | |
18 | g.31541334A= | CA2293864145 | DSG2 | c.2001+20A= (n.2001+20A=) c.1467+20A= (n.1467+20A=) | |
18 | g.31541334A>C | CA2580095584 | DSG2 | c.2001+20A>C (n.2001+20A>C) c.1467+20A>C (n.1467+20A>C) | ClinVar |
18 | g.31541334A>G | CA044510 | DSG2 | c.2001+20A>G (n.2001+20A>G) c.1467+20A>G (n.1467+20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541335T>C | CA044529 | DSG2 | c.2001+21T>C (n.2001+21T>C) c.1467+21T>C (n.1467+21T>C) | dbSNP ExAC gnomAD v2 |
18 | g.31541335T= | CA2293864146 | DSG2 | c.2001+21T= (n.2001+21T=) c.1467+21T= (n.1467+21T=) | |
18 | g.31541336A= | CA2293864147 | DSG2 | c.2001+22A= (n.2001+22A=) c.1467+22A= (n.1467+22A=) | |
18 | g.31541336A>G | CA297699742 | DSG2 | c.2001+22A>G (n.2001+22A>G) c.1467+22A>G (n.1467+22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541337T>A | CA2576480551 | DSG2 | c.2001+23T>A (n.2001+23T>A) c.1467+23T>A (n.1467+23T>A) | |
18 | g.31541338G>T | CA2641407007 | DSG2 | c.2001+24G>T (n.2001+24G>T) c.1467+24G>T (n.1467+24G>T) | gnomAD v4 |
18 | g.31541340C= | CA2293864148 | DSG2 | c.2001+26C= (n.2001+26C=) c.1467+26C= (n.1467+26C=) | |
18 | g.31541340C>T | CA629149018 | DSG2 | c.2001+26C>T (n.2001+26C>T) c.1467+26C>T (n.1467+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31541343G>A | CA15936826 | DSG2 | c.2001+29G>A (n.2001+29G>A) c.1467+29G>A (n.1467+29G>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31541343G= | CA2293864150 | DSG2 | c.2001+29G= (n.2001+29G=) c.1467+29G= (n.1467+29G=) | |
18 | g.31541343_31541346delinsGTCT | CA2293864149 | DSG2 | c.2001+29_2001+32delinsGTCT (n.2001+29_2001+32delinsGTCT) c.1467+29_1467+32delinsGTCT (n.1467+29_1467+32delinsGTCT) | |
18 | g.31541344T>C | CA629149022 | DSG2 | c.2001+30T>C (n.2001+30T>C) c.1467+30T>C (n.1467+30T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541344T= | CA2293864151 | DSG2 | c.2001+30T= (n.2001+30T=) c.1467+30T= (n.1467+30T=) | |
18 | g.31541351_31541353del | CA044543 | DSG2 | c.2001+37_2001+39del (n.2001+37_2001+39del) c.1467+37_1467+39del (n.1467+37_1467+39del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541345C>G | CA2838812156 | DSG2 | c.2001+31C>G (n.2001+31C>G) c.1467+31C>G (n.1467+31C>G) | |
18 | g.31541346T>G | CA044549 | DSG2 | c.2001+32T>G (n.2001+32T>G) c.1467+32T>G (n.1467+32T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541346T= | CA2293864152 | DSG2 | c.2001+32T= (n.2001+32T=) c.1467+32T= (n.1467+32T=) | |
18 | g.31541348C>T | CA2641407008 | DSG2 | c.2001+34C>T (n.2001+34C>T) c.1467+34C>T (n.1467+34C>T) | gnomAD v4 |
18 | g.31541348_31541349delinsCT | CA2293864153 | DSG2 | c.2001+34_2001+35delinsCT (n.2001+34_2001+35delinsCT) c.1467+34_1467+35delinsCT (n.1467+34_1467+35delinsCT) | |
18 | g.31541350del | CA044558 | DSG2 | c.2001+36del (n.2001+36del) c.1467+36del (n.1467+36del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31541350T>C | CA629149025 | DSG2 | c.2001+36T>C (n.2001+36T>C) c.1467+36T>C (n.1467+36T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541350T= | CA2293864154 | DSG2 | c.2001+36T= (n.2001+36T=) c.1467+36T= (n.1467+36T=) | |
18 | g.31541351C>G | CA2641407009 | DSG2 | c.2001+37C>G (n.2001+37C>G) c.1467+37C>G (n.1467+37C>G) | gnomAD v4 |
18 | g.31541351C>T | CA2576480552 | DSG2 | c.2001+37C>T (n.2001+37C>T) c.1467+37C>T (n.1467+37C>T) | gnomAD v4 |
18 | g.31541353T>G | CA2641407010 | DSG2 | c.2001+39T>G (n.2001+39T>G) c.1467+39T>G (n.1467+39T>G) | gnomAD v4 |
18 | g.31541354G>A | CA044571 | DSG2 | c.2001+40G>A (n.2001+40G>A) c.1467+40G>A (n.1467+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541354G>C | CA2641407011 | DSG2 | c.2001+40G>C (n.2001+40G>C) c.1467+40G>C (n.1467+40G>C) | gnomAD v4 |
18 | g.31541354G= | CA2293864155 | DSG2 | c.2001+40G= (n.2001+40G=) c.1467+40G= (n.1467+40G=) | |
18 | g.31541355G>A | CA297699749 | DSG2 | c.2001+41G>A (n.2001+41G>A) c.1467+41G>A (n.1467+41G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541355G= | CA2293864156 | DSG2 | c.2001+41G= (n.2001+41G=) c.1467+41G= (n.1467+41G=) | |
18 | g.31541357T>G | CA2293864157 | DSG2 | c.2001+43T>G (n.2001+43T>G) c.1467+43T>G (n.1467+43T>G) | dbSNP |
18 | g.31541357T= | CA2293864158 | DSG2 | c.2001+43T= (n.2001+43T=) c.1467+43T= (n.1467+43T=) | |
18 | g.31541360T>C | CA297699752 | DSG2 | c.2001+46T>C (n.2001+46T>C) c.1467+46T>C (n.1467+46T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541360T= | CA2293864159 | DSG2 | c.2001+46T= (n.2001+46T=) c.1467+46T= (n.1467+46T=) | |
18 | g.31541364G>A | CA044587 | DSG2 | c.2001+50G>A (n.2001+50G>A) c.1467+50G>A (n.1467+50G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31541364G= | CA2293864160 | DSG2 | c.2001+50G= (n.2001+50G=) c.1467+50G= (n.1467+50G=) | |
18 | g.31541364G>T | CA2641407012 | DSG2 | c.2001+50G>T (n.2001+50G>T) c.1467+50G>T (n.1467+50G>T) | gnomAD v4 |
18 | g.31541365G>A | CA2812003742 | DSG2 | c.2001+51G>A (n.2001+51G>A) c.1467+51G>A (n.1467+51G>A) | |
18 | g.31541365G>C | CA2641407013 | DSG2 | c.2001+51G>C (n.2001+51G>C) c.1467+51G>C (n.1467+51G>C) | gnomAD v4 |
18 | g.31541366G>A | CA2293864162 | DSG2 | c.2001+52G>A (n.2001+52G>A) c.1467+52G>A (n.1467+52G>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31541366G= | CA2293864161 | DSG2 | c.2001+52G= (n.2001+52G=) c.1467+52G= (n.1467+52G=) | |
18 | g.31541367G>C | CA2641407014 | DSG2 | c.2001+53G>C (n.2001+53G>C) c.1467+53G>C (n.1467+53G>C) | gnomAD v4 |
18 | g.31541367G>T | CA2641407015 | DSG2 | c.2001+53G>T (n.2001+53G>T) c.1467+53G>T (n.1467+53G>T) | gnomAD v4 |
18 | g.31541371_31541372delinsAG | CA2293864163 | DSG2 | c.2001+57_2001+58delinsAG (n.2001+57_2001+58delinsAG) c.1467+57_1467+58delinsAG (n.1467+57_1467+58delinsAG) | |
18 | g.31541374del | CA988927564 | DSG2 | c.2001+60del (n.2001+60del) c.1467+60del (n.1467+60del) | dbSNP gnomAD v3 gnomAD v4 |