Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31536384A>C | CA402142044 | DSG2 | c.1606A>C (p.Lys536Gln) c.1072A>C (p.Lys358Gln) | |
18 | g.31536384A>G | CA402142038 | DSG2 | c.1606A>G (p.Lys536Glu) c.1072A>G (p.Lys358Glu) | |
18 | g.31536384A>T | CA402142042 | DSG2 | c.1606A>T (p.Lys536Ter) c.1072A>T (p.Lys358Ter) | |
18 | g.31536385A>C | CA402142046 | DSG2 | c.1607A>C (p.Lys536Thr) c.1073A>C (p.Lys358Thr) | |
18 | g.31536385A>G | CA402142047 | DSG2 | c.1607A>G (p.Lys536Arg) c.1073A>G (p.Lys358Arg) | |
18 | g.31536385A>T | CA402142049 | DSG2 | c.1607A>T (p.Lys536Ile) c.1073A>T (p.Lys358Ile) | |
18 | g.31536386A>C | CA402142050 | DSG2 | c.1608A>C (p.Lys536Asn) c.1074A>C (p.Lys358Asn) | |
18 | g.31536386A>G | CA503600780 | DSG2 | c.1608A>G (p.Lys536=) c.1074A>G (p.Lys358=) | gnomAD v4 |
18 | g.31536386A>T | CA402142052 | DSG2 | c.1608A>T (p.Lys536Asn) c.1074A>T (p.Lys358Asn) | COSMIC |
18 | g.31536387C>A | CA402142060 | DSG2 | c.1609C>A (p.Pro537Thr) c.1075C>A (p.Pro359Thr) | |
18 | g.31536387C= | CA2293861992 | DSG2 | c.1609C= (p.Pro537=) c.1075C= (p.Pro359=) | |
18 | g.31536387C>G | CA043002 | DSG2 | c.1609C>G (p.Pro537Ala) c.1075C>G (p.Pro359Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536387C>T | CA402142054 | DSG2 | c.1609C>T (p.Pro537Ser) c.1075C>T (p.Pro359Ser) | |
18 | g.31536388C>A | CA402142063 | DSG2 | c.1610C>A (p.Pro537Gln) c.1076C>A (p.Pro359Gln) | ClinVar dbSNP |
18 | g.31536388C= | CA2293861993 | DSG2 | c.1610C= (p.Pro537=) c.1076C= (p.Pro359=) | |
18 | g.31536388C>G | CA402142067 | DSG2 | c.1610C>G (p.Pro537Arg) c.1076C>G (p.Pro359Arg) | |
18 | g.31536388C>T | CA402142066 | DSG2 | c.1610C>T (p.Pro537Leu) c.1076C>T (p.Pro359Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536389A>C | CA503600784 | DSG2 | c.1611A>C (p.Pro537=) c.1077A>C (p.Pro359=) | |
18 | g.31536389A>G | CA503600785 | DSG2 | c.1611A>G (p.Pro537=) c.1077A>G (p.Pro359=) | |
18 | g.31536389A>T | CA503600786 | DSG2 | c.1611A>T (p.Pro537=) c.1077A>T (p.Pro359=) | |
18 | g.31536390C>A | CA402142070 | DSG2 | c.1612C>A (p.Pro538Thr) c.1078C>A (p.Pro360Thr) | |
18 | g.31536390C= | CA2293861994 | DSG2 | c.1612C= (p.Pro538=) c.1078C= (p.Pro360=) | |
18 | g.31536390C>G | CA043027 | DSG2 | c.1612C>G (p.Pro538Ala) c.1078C>G (p.Pro360Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536390C>T | CA402142071 | DSG2 | c.1612C>T (p.Pro538Ser) c.1078C>T (p.Pro360Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536391C>A | CA402142073 | DSG2 | c.1613C>A (p.Pro538His) c.1079C>A (p.Pro360His) | |
18 | g.31536391C= | CA2293861995 | DSG2 | c.1613C= (p.Pro538=) c.1079C= (p.Pro360=) | |
18 | g.31536391C>G | CA043034 | DSG2 | c.1613C>G (p.Pro538Arg) c.1079C>G (p.Pro360Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536391C>T | CA297741605 | DSG2 | c.1613C>T (p.Pro538Leu) c.1079C>T (p.Pro360Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.31536392T>A | CA503600791 | DSG2 | c.1614T>A (p.Pro538=) c.1080T>A (p.Pro360=) | |
18 | g.31536392T>C | CA503600793 | DSG2 | c.1614T>C (p.Pro538=) c.1080T>C (p.Pro360=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31536392T>G | CA503600789 | DSG2 | c.1614T>G (p.Pro538=) c.1080T>G (p.Pro360=) | |
18 | g.31536392T= | CA2293861996 | DSG2 | c.1614T= (p.Pro538=) c.1080T= (p.Pro360=) | |
18 | g.31536393G>A | CA402142079 | DSG2 | c.1615G>A (p.Gly539Ser) c.1081G>A (p.Gly361Ser) | |
18 | g.31536393G>C | CA402142083 | DSG2 | c.1615G>C (p.Gly539Arg) c.1081G>C (p.Gly361Arg) | |
18 | g.31536393G>T | CA402142085 | DSG2 | c.1615G>T (p.Gly539Cys) c.1081G>T (p.Gly361Cys) | |
18 | g.31536394G>A | CA402142086 | DSG2 | c.1616G>A (p.Gly539Asp) c.1082G>A (p.Gly361Asp) | gnomAD v4 |
18 | g.31536394G>C | CA402142087 | DSG2 | c.1616G>C (p.Gly539Ala) c.1082G>C (p.Gly361Ala) | |
18 | g.31536394G>T | CA402142089 | DSG2 | c.1616G>T (p.Gly539Val) c.1082G>T (p.Gly361Val) | gnomAD v4 |
18 | g.31536395C>A | CA503600807 | DSG2 | c.1617C>A (p.Gly539=) c.1083C>A (p.Gly361=) | |
18 | g.31536395C= | CA2293861997 | DSG2 | c.1617C= (p.Gly539=) c.1083C= (p.Gly361=) | |
18 | g.31536395C>G | CA503600804 | DSG2 | c.1617C>G (p.Gly539=) c.1083C>G (p.Gly361=) | |
18 | g.31536395C>T | CA503600802 | DSG2 | c.1617C>T (p.Gly539=) c.1083C>T (p.Gly361=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31536396A= | CA2293861998 | DSG2 | c.1618A= (p.Met540=) c.1084A= (p.Met362=) | |
18 | g.31536396A>C | CA402142092 | DSG2 | c.1618A>C (p.Met540Leu) c.1084A>C (p.Met362Leu) | |
18 | g.31536396A>G | CA043040 | DSG2 | c.1618A>G (p.Met540Val) c.1084A>G (p.Met362Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536396A>T | CA402142096 | DSG2 | c.1618A>T (p.Met540Leu) c.1084A>T (p.Met362Leu) | |
18 | g.31536397T>A | CA402142099 | DSG2 | c.1619T>A (p.Met540Lys) c.1085T>A (p.Met362Lys) | |
18 | g.31536397T>C | CA402142102 | DSG2 | c.1619T>C (p.Met540Thr) c.1085T>C (p.Met362Thr) | |
18 | g.31536397T>G | CA402142100 | DSG2 | c.1619T>G (p.Met540Arg) c.1085T>G (p.Met362Arg) | |
18 | g.31536398G>A | CA402142103 | DSG2 | c.1620G>A (p.Met540Ile) c.1086G>A (p.Met362Ile) | |
18 | g.31536398G>C | CA402142105 | DSG2 | c.1620G>C (p.Met540Ile) c.1086G>C (p.Met362Ile) | |
18 | g.31536398G>T | CA402142107 | DSG2 | c.1620G>T (p.Met540Ile) c.1086G>T (p.Met362Ile) | |
18 | g.31536399G>A | CA402142108 | DSG2 | c.1621G>A (p.Ala541Thr) c.1087G>A (p.Ala363Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31536399G>C | CA402142109 | DSG2 | c.1621G>C (p.Ala541Pro) c.1087G>C (p.Ala363Pro) | |
18 | g.31536399G= | CA2293861999 | DSG2 | c.1621G= (p.Ala541=) c.1087G= (p.Ala363=) | |
18 | g.31536399G>T | CA402142110 | DSG2 | c.1621G>T (p.Ala541Ser) c.1087G>T (p.Ala363Ser) | |
18 | g.31536400C>A | CA402142112 | DSG2 | c.1622C>A (p.Ala541Glu) c.1088C>A (p.Ala363Glu) | |
18 | g.31536400C= | CA2293862000 | DSG2 | c.1622C= (p.Ala541=) c.1088C= (p.Ala363=) | |
18 | g.31536400C>G | CA043055 | DSG2 | c.1622C>G (p.Ala541Gly) c.1088C>G (p.Ala363Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536400C>T | CA402142115 | DSG2 | c.1622C>T (p.Ala541Val) c.1088C>T (p.Ala363Val) | |
18 | g.31536401A>C | CA503600822 | DSG2 | c.1623A>C (p.Ala541=) c.1089A>C (p.Ala363=) | |
18 | g.31536401A>G | CA503600824 | DSG2 | c.1623A>G (p.Ala541=) c.1089A>G (p.Ala363=) | ClinVar |
18 | g.31536401A>T | CA503600826 | DSG2 | c.1623A>T (p.Ala541=) c.1089A>T (p.Ala363=) | |
18 | g.31536402G>A | CA402142119 | DSG2 | c.1624G>A (p.Glu542Lys) c.1090G>A (p.Glu364Lys) | |
18 | g.31536402G>C | CA043068 | DSG2 | c.1624G>C (p.Glu542Gln) c.1090G>C (p.Glu364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536402G= | CA2293862001 | DSG2 | c.1624G= (p.Glu542=) c.1090G= (p.Glu364=) | |
18 | g.31536402G>T | CA402142117 | DSG2 | c.1624G>T (p.Glu542Ter) c.1090G>T (p.Glu364Ter) | gnomAD v4 |
18 | g.31536403A>C | CA402142123 | DSG2 | c.1625A>C (p.Glu542Ala) c.1091A>C (p.Glu364Ala) | |
18 | g.31536403A>G | CA402142125 | DSG2 | c.1625A>G (p.Glu542Gly) c.1091A>G (p.Glu364Gly) | |
18 | g.31536403A>T | CA402142128 | DSG2 | c.1625A>T (p.Glu542Val) c.1091A>T (p.Glu364Val) | |
18 | g.31536404A= | CA2293862002 | DSG2 | c.1626A= (p.Glu542=) c.1092A= (p.Glu364=) | |
18 | g.31536404A>C | CA402142139 | DSG2 | c.1626A>C (p.Glu542Asp) c.1092A>C (p.Glu364Asp) | |
18 | g.31536404A>G | CA503600832 | DSG2 | c.1626A>G (p.Glu542=) c.1092A>G (p.Glu364=) | dbSNP gnomAD v4 |
18 | g.31536404A>T | CA402142142 | DSG2 | c.1626A>T (p.Glu542Asp) c.1092A>T (p.Glu364Asp) | |
18 | g.31536405A>C | CA402142153 | DSG2 | c.1627A>C (p.Lys543Gln) c.1093A>C (p.Lys365Gln) | |
18 | g.31536405A>G | CA402142145 | DSG2 | c.1627A>G (p.Lys543Glu) c.1093A>G (p.Lys365Glu) | |
18 | g.31536405A>T | CA402142151 | DSG2 | c.1627A>T (p.Lys543Ter) c.1093A>T (p.Lys365Ter) | |
18 | g.31536406A>C | CA402142156 | DSG2 | c.1628A>C (p.Lys543Thr) c.1094A>C (p.Lys365Thr) | |
18 | g.31536406A>G | CA402142160 | DSG2 | c.1628A>G (p.Lys543Arg) c.1094A>G (p.Lys365Arg) | |
18 | g.31536406A>T | CA402142162 | DSG2 | c.1628A>T (p.Lys543Ile) c.1094A>T (p.Lys365Ile) | |
18 | g.31536407A>C | CA402142163 | DSG2 | c.1629A>C (p.Lys543Asn) c.1095A>C (p.Lys365Asn) | |
18 | g.31536407A>G | CA503600843 | DSG2 | c.1629A>G (p.Lys543=) c.1095A>G (p.Lys365=) | |
18 | g.31536407A>T | CA402142164 | DSG2 | c.1629A>T (p.Lys543Asn) c.1095A>T (p.Lys365Asn) | |
18 | g.31536408T>A | CA402142165 | DSG2 | c.1630T>A (p.Trp544Arg) c.1096T>A (p.Trp366Arg) | |
18 | g.31536408T>C | CA402142167 | DSG2 | c.1630T>C (p.Trp544Arg) c.1096T>C (p.Trp366Arg) | |
18 | g.31536408T>G | CA402142166 | DSG2 | c.1630T>G (p.Trp544Gly) c.1096T>G (p.Trp366Gly) | ClinVar gnomAD v4 |
18 | g.31536409G>A | CA402142170 | DSG2 | c.1631G>A (p.Trp544Ter) c.1097G>A (p.Trp366Ter) | |
18 | g.31536409G>C | CA402142174 | DSG2 | c.1631G>C (p.Trp544Ser) c.1097G>C (p.Trp366Ser) | |
18 | g.31536409G>T | CA402142176 | DSG2 | c.1631G>T (p.Trp544Leu) c.1097G>T (p.Trp366Leu) | |
18 | g.31536410G>A | CA402142179 | DSG2 | c.1632G>A (p.Trp544Ter) c.1098G>A (p.Trp366Ter) | |
18 | g.31536410G>C | CA402142182 | DSG2 | c.1632G>C (p.Trp544Cys) c.1098G>C (p.Trp366Cys) | |
18 | g.31536410G>T | CA402142189 | DSG2 | c.1632G>T (p.Trp544Cys) c.1098G>T (p.Trp366Cys) | |
18 | g.31536411A= | CA2293862003 | DSG2 | c.1633A= (p.Lys545=) c.1099A= (p.Lys367=) | |
18 | g.31536411A>C | CA297741648 | DSG2 | c.1633A>C (p.Lys545Gln) c.1099A>C (p.Lys367Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536411A>G | CA402142193 | DSG2 | c.1633A>G (p.Lys545Glu) c.1099A>G (p.Lys367Glu) | |
18 | g.31536411A>T | CA402142195 | DSG2 | c.1633A>T (p.Lys545Ter) c.1099A>T (p.Lys367Ter) | |
18 | g.31536412A>C | CA402142198 | DSG2 | c.1634A>C (p.Lys545Thr) c.1100A>C (p.Lys367Thr) | |
18 | g.31536412A>G | CA402142199 | DSG2 | c.1634A>G (p.Lys545Arg) c.1100A>G (p.Lys367Arg) | |
18 | g.31536412A>T | CA402142201 | DSG2 | c.1634A>T (p.Lys545Ile) c.1100A>T (p.Lys367Ile) | |
18 | g.31536413A>C | CA402142206 | DSG2 | c.1635A>C (p.Lys545Asn) c.1101A>C (p.Lys367Asn) | |
18 | g.31536413A>G | CA503600870 | DSG2 | c.1635A>G (p.Lys545=) c.1101A>G (p.Lys367=) | |
18 | g.31536413A>T | CA402142203 | DSG2 | c.1635A>T (p.Lys545Asn) c.1101A>T (p.Lys367Asn) | |
18 | g.31536414A= | CA2293862004 | DSG2 | c.1636A= (p.Ile546=) c.1102A= (p.Ile368=) | |
18 | g.31536414A>C | CA402142208 | DSG2 | c.1636A>C (p.Ile546Leu) c.1102A>C (p.Ile368Leu) | |
18 | g.31536414A>G | CA043073 | DSG2 | c.1636A>G (p.Ile546Val) c.1102A>G (p.Ile368Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536414A>T | CA402142213 | DSG2 | c.1636A>T (p.Ile546Leu) c.1102A>T (p.Ile368Leu) | |
18 | g.31536415T>A | CA402142215 | DSG2 | c.1637T>A (p.Ile546Lys) c.1103T>A (p.Ile368Lys) | |
18 | g.31536415T>C | CA402142220 | DSG2 | c.1637T>C (p.Ile546Thr) c.1103T>C (p.Ile368Thr) | |
18 | g.31536415T>G | CA402142221 | DSG2 | c.1637T>G (p.Ile546Arg) c.1103T>G (p.Ile368Arg) | |
18 | g.31536416A>C | CA503600880 | DSG2 | c.1638A>C (p.Ile546=) c.1104A>C (p.Ile368=) | |
18 | g.31536416A>G | CA402142222 | DSG2 | c.1638A>G (p.Ile546Met) c.1104A>G (p.Ile368Met) | gnomAD v4 |
18 | g.31536416A>T | CA503600881 | DSG2 | c.1638A>T (p.Ile546=) c.1104A>T (p.Ile368=) | |
18 | g.31536417G>A | CA402142226 | DSG2 | c.1639G>A (p.Ala547Thr) c.1105G>A (p.Ala369Thr) | ClinVar dbSNP gnomAD v4 |
18 | g.31536417G>C | CA402142234 | DSG2 | c.1639G>C (p.Ala547Pro) c.1105G>C (p.Ala369Pro) | |
18 | g.31536417G= | CA2293862005 | DSG2 | c.1639G= (p.Ala547=) c.1105G= (p.Ala369=) | |
18 | g.31536417G>T | CA402142236 | DSG2 | c.1639G>T (p.Ala547Ser) c.1105G>T (p.Ala369Ser) | |
18 | g.31536418C>A | CA402142240 | DSG2 | c.1640C>A (p.Ala547Glu) c.1106C>A (p.Ala369Glu) | |
18 | g.31536418C= | CA2293862006 | DSG2 | c.1640C= (p.Ala547=) c.1106C= (p.Ala369=) | |
18 | g.31536418C>G | CA402142241 | DSG2 | c.1640C>G (p.Ala547Gly) c.1106C>G (p.Ala369Gly) | |
18 | g.31536418C>T | CA402142242 | DSG2 | c.1640C>T (p.Ala547Val) c.1106C>T (p.Ala369Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31536419A= | CA2293862007 | DSG2 | c.1641A= (p.Ala547=) c.1107A= (p.Ala369=) | |
18 | g.31536419A>C | CA297741663 | DSG2 | c.1641A>C (p.Ala547=) c.1107A>C (p.Ala369=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536419A>G | CA503600887 | DSG2 | c.1641A>G (p.Ala547=) c.1107A>G (p.Ala369=) | dbSNP |
18 | g.31536419A>T | CA503600889 | DSG2 | c.1641A>T (p.Ala547=) c.1107A>T (p.Ala369=) | |
18 | g.31536420C>A | CA402142246 | DSG2 | c.1642C>A (p.Arg548Ser) c.1108C>A (p.Arg370Ser) | ClinVar |
18 | g.31536420C= | CA2293862008 | DSG2 | c.1642C= (p.Arg548=) c.1108C= (p.Arg370=) | |
18 | g.31536420C>G | CA402142244 | DSG2 | c.1642C>G (p.Arg548Gly) c.1108C>G (p.Arg370Gly) | ClinVar dbSNP gnomAD v4 |
18 | g.31536420C>T | CA043088 | DSG2 | c.1642C>T (p.Arg548Cys) c.1108C>T (p.Arg370Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536420_31536421insCCAAACACA | CA2812004069 | DSG2 | c.1642_1643insCCAAACACA (p.Arg548delinsProLysHisSer) c.1108_1109insCCAAACACA (p.Arg370delinsProLysHisSer) | |
18 | g.31536421G>A | CA021510 | DSG2 | c.1643G>A (p.Arg548His) c.1109G>A (p.Arg370His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536421G>C | CA402142250 | DSG2 | c.1643G>C (p.Arg548Pro) c.1109G>C (p.Arg370Pro) | |
18 | g.31536421G= | CA2293862009 | DSG2 | c.1643G= (p.Arg548=) c.1109G= (p.Arg370=) | |
18 | g.31536421G>T | CA043113 | DSG2 | c.1643G>T (p.Arg548Leu) c.1109G>T (p.Arg370Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536422C>A | CA503600897 | DSG2 | c.1644C>A (p.Arg548=) c.1110C>A (p.Arg370=) | dbSNP gnomAD v4 |
18 | g.31536422C= | CA2293862010 | DSG2 | c.1644C= (p.Arg548=) c.1110C= (p.Arg370=) | |
18 | g.31536422C>G | CA503600899 | DSG2 | c.1644C>G (p.Arg548=) c.1110C>G (p.Arg370=) | |
18 | g.31536422C>T | CA503600900 | DSG2 | c.1644C>T (p.Arg548=) c.1110C>T (p.Arg370=) | COSMIC |
18 | g.31536423C>A | CA402142255 | DSG2 | c.1645C>A (p.Gln549Lys) c.1111C>A (p.Gln371Lys) | |
18 | g.31536423C>G | CA402142257 | DSG2 | c.1645C>G (p.Gln549Glu) c.1111C>G (p.Gln371Glu) | |
18 | g.31536423C>T | CA402142260 | DSG2 | c.1645C>T (p.Gln549Ter) c.1111C>T (p.Gln371Ter) | |
18 | g.31536424A>C | CA402142266 | DSG2 | c.1646A>C (p.Gln549Pro) c.1112A>C (p.Gln371Pro) | |
18 | g.31536424A>G | CA402142267 | DSG2 | c.1646A>G (p.Gln549Arg) c.1112A>G (p.Gln371Arg) | |
18 | g.31536424A>T | CA402142270 | DSG2 | c.1646A>T (p.Gln549Leu) c.1112A>T (p.Gln371Leu) | |
18 | g.31536425A>C | CA402142274 | DSG2 | c.1647A>C (p.Gln549His) c.1113A>C (p.Gln371His) | |
18 | g.31536425A>G | CA503600913 | DSG2 | c.1647A>G (p.Gln549=) c.1113A>G (p.Gln371=) | |
18 | g.31536425A>T | CA402142276 | DSG2 | c.1647A>T (p.Gln549His) c.1113A>T (p.Gln371His) | |
18 | g.31536426G>A | CA402142280 | DSG2 | c.1648G>A (p.Glu550Lys) c.1114G>A (p.Glu372Lys) | ClinVar dbSNP |
18 | g.31536426G>C | CA297741694 | DSG2 | c.1648G>C (p.Glu550Gln) c.1114G>C (p.Glu372Gln) | dbSNP |
18 | g.31536426G= | CA2293862011 | DSG2 | c.1648G= (p.Glu550=) c.1114G= (p.Glu372=) | |
18 | g.31536426G>T | CA402142282 | DSG2 | c.1648G>T (p.Glu550Ter) c.1114G>T (p.Glu372Ter) | |
18 | g.31536427A>C | CA402142296 | DSG2 | c.1649A>C (p.Glu550Ala) c.1115A>C (p.Glu372Ala) | |
18 | g.31536427A>G | CA402142298 | DSG2 | c.1649A>G (p.Glu550Gly) c.1115A>G (p.Glu372Gly) | ClinVar dbSNP gnomAD v4 |
18 | g.31536427A>T | CA402142285 | DSG2 | c.1649A>T (p.Glu550Val) c.1115A>T (p.Glu372Val) | |
18 | g.31536428A>C | CA402142302 | DSG2 | c.1650A>C (p.Glu550Asp) c.1116A>C (p.Glu372Asp) | |
18 | g.31536428A>G | CA503600930 | DSG2 | c.1650A>G (p.Glu550=) c.1116A>G (p.Glu372=) | |
18 | g.31536428A>T | CA402142304 | DSG2 | c.1650A>T (p.Glu550Asp) c.1116A>T (p.Glu372Asp) | |
18 | g.31536429A>C | CA402142308 | DSG2 | c.1651A>C (p.Ser551Arg) c.1117A>C (p.Ser373Arg) | |
18 | g.31536429A>G | CA402142310 | DSG2 | c.1651A>G (p.Ser551Gly) c.1117A>G (p.Ser373Gly) | ClinVar |
18 | g.31536429A>T | CA402142312 | DSG2 | c.1651A>T (p.Ser551Cys) c.1117A>T (p.Ser373Cys) | |
18 | g.31536430G>A | CA402142314 | DSG2 | c.1651+1G>A (n.1651+1G>A) c.1117+1G>A (n.1117+1G>A) | gnomAD v4 |
18 | g.31536430G>C | CA402142317 | DSG2 | c.1651+1G>C (n.1651+1G>C) c.1117+1G>C (n.1117+1G>C) | |
18 | g.31536430G>T | CA402142318 | DSG2 | c.1651+1G>T (n.1651+1G>T) c.1117+1G>T (n.1117+1G>T) | |
18 | g.31536431T>A | CA402142320 | DSG2 | c.1651+2T>A (n.1651+2T>A) c.1117+2T>A (n.1117+2T>A) | |
18 | g.31536431T>C | CA402142323 | DSG2 | c.1651+2T>C (n.1651+2T>C) c.1117+2T>C (n.1117+2T>C) | |
18 | g.31536431T>G | CA402142325 | DSG2 | c.1651+2T>G (n.1651+2T>G) c.1117+2T>G (n.1117+2T>G) | |
18 | g.31536432_31536433insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG | CA2734855366 | DSG2 | c.1651+3_1651+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG (n.1651+3_1651+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG) c.1117+3_1117+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG (n.1117+3_1117+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG) | dbSNP |
18 | g.31536434del | CA2812004070 | DSG2 | c.1651+5del (n.1651+5del) c.1117+5del (n.1117+5del) | |
18 | g.31536435C>T | CA2576480446 | DSG2 | c.1651+6C>T (n.1651+6C>T) c.1117+6C>T (n.1117+6C>T) | gnomAD v4 |
18 | g.31536436A>C | CA2812004071 | DSG2 | c.1651+7A>C (n.1651+7A>C) c.1117+7A>C (n.1117+7A>C) | |
18 | g.31536442A>G | CA2641406718 | DSG2 | c.1651+13A>G (n.1651+13A>G) c.1117+13A>G (n.1117+13A>G) | gnomAD v4 |
18 | g.31536444T>C | CA043126 | DSG2 | c.1651+15T>C (n.1651+15T>C) c.1117+15T>C (n.1117+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536444T= | CA2293862012 | DSG2 | c.1651+15T= (n.1651+15T=) c.1117+15T= (n.1117+15T=) | |
18 | g.31536448C>A | CA2641406719 | DSG2 | c.1651+19C>A (n.1651+19C>A) c.1117+19C>A (n.1117+19C>A) | gnomAD v4 |
18 | g.31536449T>A | CA2641406720 | DSG2 | c.1651+20T>A (n.1651+20T>A) c.1117+20T>A (n.1117+20T>A) | gnomAD v4 |
18 | g.31536449T>C | CA2641406721 | DSG2 | c.1651+20T>C (n.1651+20T>C) c.1117+20T>C (n.1117+20T>C) | gnomAD v4 |
18 | g.31536450A= | CA2293862013 | DSG2 | c.1651+21A= (n.1651+21A=) c.1117+21A= (n.1117+21A=) | |
18 | g.31536450A>C | CA043151 | DSG2 | c.1651+21A>C (n.1651+21A>C) c.1117+21A>C (n.1117+21A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536450A>G | CA2293862014 | DSG2 | c.1651+21A>G (n.1651+21A>G) c.1117+21A>G (n.1117+21A>G) | dbSNP gnomAD v4 |
18 | g.31536450A>T | CA043165 | DSG2 | c.1651+21A>T (n.1651+21A>T) c.1117+21A>T (n.1117+21A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536451C>A | CA2641406722 | DSG2 | c.1651+22C>A (n.1651+22C>A) c.1117+22C>A (n.1117+22C>A) | gnomAD v4 |
18 | g.31536451C>T | CA2641406723 | DSG2 | c.1651+22C>T (n.1651+22C>T) c.1117+22C>T (n.1117+22C>T) | gnomAD v4 |
18 | g.31536452A= | CA2293862015 | DSG2 | c.1651+23A= (n.1651+23A=) c.1117+23A= (n.1117+23A=) | |
18 | g.31536452A>G | CA043187 | DSG2 | c.1651+23A>G (n.1651+23A>G) c.1117+23A>G (n.1117+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536457A= | CA2293862016 | DSG2 | c.1651+28A= (n.1651+28A=) c.1117+28A= (n.1117+28A=) | |
18 | g.31536457A>G | CA043205 | DSG2 | c.1651+28A>G (n.1651+28A>G) c.1117+28A>G (n.1117+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536459T>G | CA629453668 | DSG2 | c.1651+30T>G (n.1651+30T>G) c.1117+30T>G (n.1117+30T>G) | dbSNP gnomAD v2 |
18 | g.31536459T= | CA2293862017 | DSG2 | c.1651+30T= (n.1651+30T=) c.1117+30T= (n.1117+30T=) | |
18 | g.31536460C>A | CA2641406724 | DSG2 | c.1651+31C>A (n.1651+31C>A) c.1117+31C>A (n.1117+31C>A) | gnomAD v4 |
18 | g.31536461T>C | CA2641406725 | DSG2 | c.1651+32T>C (n.1651+32T>C) c.1117+32T>C (n.1117+32T>C) | gnomAD v4 |
18 | g.31536462A= | CA2293862018 | DSG2 | c.1651+33A= (n.1651+33A=) c.1117+33A= (n.1117+33A=) | |
18 | g.31536462A>G | CA629453669 | DSG2 | c.1651+33A>G (n.1651+33A>G) c.1117+33A>G (n.1117+33A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536464A= | CA2293862019 | DSG2 | c.1651+35A= (n.1651+35A=) c.1117+35A= (n.1117+35A=) | |
18 | g.31536464A>C | CA988925871 | DSG2 | c.1651+35A>C (n.1651+35A>C) c.1117+35A>C (n.1117+35A>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536467T>C | CA988925874 | DSG2 | c.1651+38T>C (n.1651+38T>C) c.1117+38T>C (n.1117+38T>C) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536467T= | CA2293862020 | DSG2 | c.1651+38T= (n.1651+38T=) c.1117+38T= (n.1117+38T=) | |
18 | g.31536468T>A | CA2641406726 | DSG2 | c.1651+39T>A (n.1651+39T>A) c.1117+39T>A (n.1117+39T>A) | gnomAD v4 |
18 | g.31536468T>C | CA2641406727 | DSG2 | c.1651+39T>C (n.1651+39T>C) c.1117+39T>C (n.1117+39T>C) | gnomAD v4 |
18 | g.31536470del | CA2812004072 | DSG2 | c.1651+41del (n.1651+41del) c.1117+41del (n.1117+41del) | |
18 | g.31536470A= | CA2293862021 | DSG2 | c.1651+41A= (n.1651+41A=) c.1117+41A= (n.1117+41A=) | |
18 | g.31536470A>C | CA043216 | DSG2 | c.1651+41A>C (n.1651+41A>C) c.1117+41A>C (n.1117+41A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536470A>G | CA2641406728 | DSG2 | c.1651+41A>G (n.1651+41A>G) c.1117+41A>G (n.1117+41A>G) | gnomAD v4 |
18 | g.31536471G>A | CA043226 | DSG2 | c.1651+42G>A (n.1651+42G>A) c.1117+42G>A (n.1117+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31536471G= | CA2293862022 | DSG2 | c.1651+42G= (n.1651+42G=) c.1117+42G= (n.1117+42G=) | |
18 | g.31536472C>A | CA2641406729 | DSG2 | c.1651+43C>A (n.1651+43C>A) c.1117+43C>A (n.1117+43C>A) | gnomAD v4 |
18 | g.31536472C>G | CA2576480447 | DSG2 | c.1651+43C>G (n.1651+43C>G) c.1117+43C>G (n.1117+43C>G) | |
18 | g.31536473A>G | CA2641406730 | DSG2 | c.1651+44A>G (n.1651+44A>G) c.1117+44A>G (n.1117+44A>G) | gnomAD v4 |
18 | g.31536475G>A | CA2293862024 | DSG2 | c.1651+46G>A (n.1651+46G>A) c.1117+46G>A (n.1117+46G>A) | dbSNP |
18 | g.31536475G= | CA2293862023 | DSG2 | c.1651+46G= (n.1651+46G=) c.1117+46G= (n.1117+46G=) | |
18 | g.31536478A>G | CA2576480448 | DSG2 | c.1651+49A>G (n.1651+49A>G) c.1117+49A>G (n.1117+49A>G) | |
18 | g.31536479T>C | CA629148551 | DSG2 | c.1651+50T>C (n.1651+50T>C) c.1117+50T>C (n.1117+50T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536479T= | CA2293862025 | DSG2 | c.1651+50T= (n.1651+50T=) c.1117+50T= (n.1117+50T=) | |
18 | g.31536480C>A | CA629148552 | DSG2 | c.1651+51C>A (n.1651+51C>A) c.1117+51C>A (n.1117+51C>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31536480C= | CA2293862026 | DSG2 | c.1651+51C= (n.1651+51C=) c.1117+51C= (n.1117+51C=) | |
18 | g.31536480C>T | CA629148553 | DSG2 | c.1651+51C>T (n.1651+51C>T) c.1117+51C>T (n.1117+51C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536482A= | CA2293862027 | DSG2 | c.1651+53A= (n.1651+53A=) c.1117+53A= (n.1117+53A=) | |
18 | g.31536482A>G | CA656949601 | DSG2 | c.1651+53A>G (n.1651+53A>G) c.1117+53A>G (n.1117+53A>G) | gnomAD v4 COSMIC |
18 | g.31536482A>T | CA629148554 | DSG2 | c.1651+53A>T (n.1651+53A>T) c.1117+53A>T (n.1117+53A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |