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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798642A= | CA2062572815 | TRPV4 | c.1124T= (p.Met375=) c.*211T= (n.*211T=) n.1155T= c.1022T= (p.Met341=) c.983T= (p.Met328=) c.1277T= (p.Met426=) c.1136T= (p.Met379=) | |
| 12 | g.109798642A>C | CA386654103 | TRPV4 | c.1124T>G (p.Met375Arg) c.*211T>G (n.*211T>G) n.1155T>G c.1022T>G (p.Met341Arg) c.983T>G (p.Met328Arg) c.1277T>G (p.Met426Arg) c.1136T>G (p.Met379Arg) | |
| 12 | g.109798642A>G | CA386654105 | TRPV4 | c.1124T>C (p.Met375Thr) c.*211T>C (n.*211T>C) n.1155T>C c.1022T>C (p.Met341Thr) c.983T>C (p.Met328Thr) c.1277T>C (p.Met426Thr) c.1136T>C (p.Met379Thr) | ClinVar |
| 12 | g.109798642A>T | CA386654106 | TRPV4 | c.1124T>A (p.Met375Lys) c.*211T>A (n.*211T>A) n.1155T>A c.1022T>A (p.Met341Lys) c.983T>A (p.Met328Lys) c.1277T>A (p.Met426Lys) c.1136T>A (p.Met379Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798643T>A | CA386654108 | TRPV4 | c.1123A>T (p.Met375Leu) c.*210A>T (n.*210A>T) n.1154A>T c.1021A>T (p.Met341Leu) c.982A>T (p.Met328Leu) c.1276A>T (p.Met426Leu) c.1135A>T (p.Met379Leu) | |
| 12 | g.109798643T>C | CA386654110 | TRPV4 | c.1123A>G (p.Met375Val) c.*210A>G (n.*210A>G) n.1154A>G c.1021A>G (p.Met341Val) c.982A>G (p.Met328Val) c.1276A>G (p.Met426Val) c.1135A>G (p.Met379Val) | |
| 12 | g.109798643T>G | CA386654111 | TRPV4 | c.1123A>C (p.Met375Leu) c.*210A>C (n.*210A>C) n.1154A>C c.1021A>C (p.Met341Leu) c.982A>C (p.Met328Leu) c.1276A>C (p.Met426Leu) c.1135A>C (p.Met379Leu) | |
| 12 | g.109798644G>A | CA481867189 | TRPV4 | c.1122C>T (p.Leu374=) c.*209C>T (n.*209C>T) n.1153C>T c.1020C>T (p.Leu340=) c.981C>T (p.Leu327=) c.1275C>T (p.Leu425=) c.1134C>T (p.Leu378=) | dbSNP |
| 12 | g.109798644G>C | CA481867190 | TRPV4 | c.1122C>G (p.Leu374=) c.*209C>G (n.*209C>G) n.1153C>G c.1020C>G (p.Leu340=) c.981C>G (p.Leu327=) c.1275C>G (p.Leu425=) c.1134C>G (p.Leu378=) | |
| 12 | g.109798644G>T | CA481867192 | TRPV4 | c.1122C>A (p.Leu374=) c.*209C>A (n.*209C>A) n.1153C>A c.1020C>A (p.Leu340=) c.981C>A (p.Leu327=) c.1275C>A (p.Leu425=) c.1134C>A (p.Leu378=) | gnomAD v4 |
| 12 | g.109798645A>C | CA386654113 | TRPV4 | c.1121T>G (p.Leu374Arg) c.*208T>G (n.*208T>G) n.1152T>G c.1019T>G (p.Leu340Arg) c.980T>G (p.Leu327Arg) c.1274T>G (p.Leu425Arg) c.1133T>G (p.Leu378Arg) | |
| 12 | g.109798645A>G | CA386654115 | TRPV4 | c.1121T>C (p.Leu374Pro) c.*208T>C (n.*208T>C) n.1152T>C c.1019T>C (p.Leu340Pro) c.980T>C (p.Leu327Pro) c.1274T>C (p.Leu425Pro) c.1133T>C (p.Leu378Pro) | |
| 12 | g.109798645A>T | CA386654116 | TRPV4 | c.1121T>A (p.Leu374His) c.*208T>A (n.*208T>A) n.1152T>A c.1019T>A (p.Leu340His) c.980T>A (p.Leu327His) c.1274T>A (p.Leu425His) c.1133T>A (p.Leu378His) | |
| 12 | g.109798646G>A | CA386654118 | TRPV4 | c.1120C>T (p.Leu374Phe) c.*207C>T (n.*207C>T) n.1151C>T c.1018C>T (p.Leu340Phe) c.979C>T (p.Leu327Phe) c.1273C>T (p.Leu425Phe) c.1132C>T (p.Leu378Phe) | gnomAD v4 |
| 12 | g.109798646G>C | CA386654121 | TRPV4 | c.1120C>G (p.Leu374Val) c.*207C>G (n.*207C>G) n.1151C>G c.1018C>G (p.Leu340Val) c.979C>G (p.Leu327Val) c.1273C>G (p.Leu425Val) c.1132C>G (p.Leu378Val) | |
| 12 | g.109798646G>T | CA386654119 | TRPV4 | c.1120C>A (p.Leu374Ile) c.*207C>A (n.*207C>A) n.1151C>A c.1018C>A (p.Leu340Ile) c.979C>A (p.Leu327Ile) c.1273C>A (p.Leu425Ile) c.1132C>A (p.Leu378Ile) | |
| 12 | g.109798647G>A | CA481867194 | TRPV4 | c.1119C>T (p.Pro373=) c.*206C>T (n.*206C>T) n.1150C>T c.1017C>T (p.Pro339=) c.978C>T (p.Pro326=) c.1272C>T (p.Pro424=) c.1131C>T (p.Pro377=) | gnomAD v4 |
| 12 | g.109798647G>C | CA481867195 | TRPV4 | c.1119C>G (p.Pro373=) c.*206C>G (n.*206C>G) n.1150C>G c.1017C>G (p.Pro339=) c.978C>G (p.Pro326=) c.1272C>G (p.Pro424=) c.1131C>G (p.Pro377=) | gnomAD v4 |
| 12 | g.109798647G>T | CA481867196 | TRPV4 | c.1119C>A (p.Pro373=) c.*206C>A (n.*206C>A) n.1150C>A c.1017C>A (p.Pro339=) c.978C>A (p.Pro326=) c.1272C>A (p.Pro424=) c.1131C>A (p.Pro377=) | gnomAD v4 |
| 12 | g.109798648G>A | CA386654122 | TRPV4 | c.1118C>T (p.Pro373Leu) c.*205C>T (n.*205C>T) n.1149C>T c.1016C>T (p.Pro339Leu) c.977C>T (p.Pro326Leu) c.1271C>T (p.Pro424Leu) c.1130C>T (p.Pro377Leu) | |
| 12 | g.109798648G>C | CA386654125 | TRPV4 | c.1118C>G (p.Pro373Arg) c.*205C>G (n.*205C>G) n.1149C>G c.1016C>G (p.Pro339Arg) c.977C>G (p.Pro326Arg) c.1271C>G (p.Pro424Arg) c.1130C>G (p.Pro377Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798648G= | CA2062572817 | TRPV4 | c.1118C= (p.Pro373=) c.*205C= (n.*205C=) n.1149C= c.1016C= (p.Pro339=) c.977C= (p.Pro326=) c.1271C= (p.Pro424=) c.1130C= (p.Pro377=) | |
| 12 | g.109798648G>T | CA386654124 | TRPV4 | c.1118C>A (p.Pro373His) c.*205C>A (n.*205C>A) n.1149C>A c.1016C>A (p.Pro339His) c.977C>A (p.Pro326His) c.1271C>A (p.Pro424His) c.1130C>A (p.Pro377His) | |
| 12 | g.109798649G>A | CA386654127 | TRPV4 | c.1117C>T (p.Pro373Ser) c.*204C>T (n.*204C>T) n.1148C>T c.1015C>T (p.Pro339Ser) c.976C>T (p.Pro326Ser) c.1270C>T (p.Pro424Ser) c.1129C>T (p.Pro377Ser) | gnomAD v4 |
| 12 | g.109798649G>C | CA386654129 | TRPV4 | c.1117C>G (p.Pro373Ala) c.*204C>G (n.*204C>G) n.1148C>G c.1015C>G (p.Pro339Ala) c.976C>G (p.Pro326Ala) c.1270C>G (p.Pro424Ala) c.1129C>G (p.Pro377Ala) | |
| 12 | g.109798649G>T | CA386654130 | TRPV4 | c.1117C>A (p.Pro373Thr) c.*204C>A (n.*204C>A) n.1148C>A c.1015C>A (p.Pro339Thr) c.976C>A (p.Pro326Thr) c.1270C>A (p.Pro424Thr) c.1129C>A (p.Pro377Thr) | |
| 12 | g.109798650C>A | CA481867201 | TRPV4 | c.1116G>T (p.Ser372=) c.*203G>T (n.*203G>T) n.1147G>T c.1014G>T (p.Ser338=) c.975G>T (p.Ser325=) c.1269G>T (p.Ser423=) c.1128G>T (p.Ser376=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798650C= | CA2062572821 | TRPV4 | c.1116G= (p.Ser372=) c.*203G= (n.*203G=) n.1147G= c.1014G= (p.Ser338=) c.975G= (p.Ser325=) c.1269G= (p.Ser423=) c.1128G= (p.Ser376=) | |
| 12 | g.109798650C>G | CA481867202 | TRPV4 | c.1116G>C (p.Ser372=) c.*203G>C (n.*203G>C) n.1147G>C c.1014G>C (p.Ser338=) c.975G>C (p.Ser325=) c.1269G>C (p.Ser423=) c.1128G>C (p.Ser376=) | gnomAD v4 |
| 12 | g.109798650C>T | CA6780346 | TRPV4 | c.1116G>A (p.Ser372=) c.*203G>A (n.*203G>A) n.1147G>A c.1014G>A (p.Ser338=) c.975G>A (p.Ser325=) c.1269G>A (p.Ser423=) c.1128G>A (p.Ser376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798651G>A | CA386654132 | TRPV4 | c.1115C>T (p.Ser372Leu) c.*202C>T (n.*202C>T) n.1146C>T c.1013C>T (p.Ser338Leu) c.974C>T (p.Ser325Leu) c.1268C>T (p.Ser423Leu) c.1127C>T (p.Ser376Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109798651G>C | CA386654134 | TRPV4 | c.1115C>G (p.Ser372Trp) c.*202C>G (n.*202C>G) n.1146C>G c.1013C>G (p.Ser338Trp) c.974C>G (p.Ser325Trp) c.1268C>G (p.Ser423Trp) c.1127C>G (p.Ser376Trp) | |
| 12 | g.109798651G= | CA2062572827 | TRPV4 | c.1115C= (p.Ser372=) c.*202C= (n.*202C=) n.1146C= c.1013C= (p.Ser338=) c.974C= (p.Ser325=) c.1268C= (p.Ser423=) c.1127C= (p.Ser376=) | |
| 12 | g.109798651G>T | CA386654135 | TRPV4 | c.1115C>A (p.Ser372Ter) c.*202C>A (n.*202C>A) n.1146C>A c.1013C>A (p.Ser338Ter) c.974C>A (p.Ser325Ter) c.1268C>A (p.Ser423Ter) c.1127C>A (p.Ser376Ter) | gnomAD v4 |
| 12 | g.109798652A>C | CA386654137 | TRPV4 | c.1114T>G (p.Ser372Ala) c.*201T>G (n.*201T>G) n.1145T>G c.1012T>G (p.Ser338Ala) c.973T>G (p.Ser325Ala) c.1267T>G (p.Ser423Ala) c.1126T>G (p.Ser376Ala) | dbSNP gnomAD v4 |
| 12 | g.109798652A>G | CA386654139 | TRPV4 | c.1114T>C (p.Ser372Pro) c.*201T>C (n.*201T>C) n.1145T>C c.1012T>C (p.Ser338Pro) c.973T>C (p.Ser325Pro) c.1267T>C (p.Ser423Pro) c.1126T>C (p.Ser376Pro) | |
| 12 | g.109798652A>T | CA386654141 | TRPV4 | c.1114T>A (p.Ser372Thr) c.*201T>A (n.*201T>A) n.1145T>A c.1012T>A (p.Ser338Thr) c.973T>A (p.Ser325Thr) c.1267T>A (p.Ser423Thr) c.1126T>A (p.Ser376Thr) | |
| 12 | g.109798653G>A | CA481867208 | TRPV4 | c.1113C>T (p.Leu371=) c.*200C>T (n.*200C>T) n.1144C>T c.1011C>T (p.Leu337=) c.972C>T (p.Leu324=) c.1266C>T (p.Leu422=) c.1125C>T (p.Leu375=) | |
| 12 | g.109798653G>C | CA481867209 | TRPV4 | c.1113C>G (p.Leu371=) c.*200C>G (n.*200C>G) n.1144C>G c.1011C>G (p.Leu337=) c.972C>G (p.Leu324=) c.1266C>G (p.Leu422=) c.1125C>G (p.Leu375=) | dbSNP |
| 12 | g.109798653G= | CA2062572830 | TRPV4 | c.1113C= (p.Leu371=) c.*200C= (n.*200C=) n.1144C= c.1011C= (p.Leu337=) c.972C= (p.Leu324=) c.1266C= (p.Leu422=) c.1125C= (p.Leu375=) | |
| 12 | g.109798653G>T | CA481867210 | TRPV4 | c.1113C>A (p.Leu371=) c.*200C>A (n.*200C>A) n.1144C>A c.1011C>A (p.Leu337=) c.972C>A (p.Leu324=) c.1266C>A (p.Leu422=) c.1125C>A (p.Leu375=) | |
| 12 | g.109798654A>C | CA386654142 | TRPV4 | c.1112T>G (p.Leu371Arg) c.*199T>G (n.*199T>G) n.1143T>G c.1010T>G (p.Leu337Arg) c.971T>G (p.Leu324Arg) c.1265T>G (p.Leu422Arg) c.1124T>G (p.Leu375Arg) | |
| 12 | g.109798654A>G | CA386654144 | TRPV4 | c.1112T>C (p.Leu371Pro) c.*199T>C (n.*199T>C) n.1143T>C c.1010T>C (p.Leu337Pro) c.971T>C (p.Leu324Pro) c.1265T>C (p.Leu422Pro) c.1124T>C (p.Leu375Pro) | |
| 12 | g.109798654A>T | CA386654146 | TRPV4 | c.1112T>A (p.Leu371His) c.*199T>A (n.*199T>A) n.1143T>A c.1010T>A (p.Leu337His) c.971T>A (p.Leu324His) c.1265T>A (p.Leu422His) c.1124T>A (p.Leu375His) | |
| 12 | g.109798655G>A | CA6780347 | TRPV4 | c.1111C>T (p.Leu371Phe) c.*198C>T (n.*198C>T) n.1142C>T c.1009C>T (p.Leu337Phe) c.970C>T (p.Leu324Phe) c.1264C>T (p.Leu422Phe) c.1123C>T (p.Leu375Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798655G>C | CA386654149 | TRPV4 | c.1111C>G (p.Leu371Val) c.*198C>G (n.*198C>G) n.1142C>G c.1009C>G (p.Leu337Val) c.970C>G (p.Leu324Val) c.1264C>G (p.Leu422Val) c.1123C>G (p.Leu375Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798655G= | CA2062572832 | TRPV4 | c.1111C= (p.Leu371=) c.*198C= (n.*198C=) n.1142C= c.1009C= (p.Leu337=) c.970C= (p.Leu324=) c.1264C= (p.Leu422=) c.1123C= (p.Leu375=) | |
| 12 | g.109798655G>T | CA386654148 | TRPV4 | c.1111C>A (p.Leu371Ile) c.*198C>A (n.*198C>A) n.1142C>A c.1009C>A (p.Leu337Ile) c.970C>A (p.Leu324Ile) c.1264C>A (p.Leu422Ile) c.1123C>A (p.Leu375Ile) | gnomAD v4 |
| 12 | g.109798656G>A | CA481867214 | TRPV4 | c.1110C>T (p.Gly370=) c.*197C>T (n.*197C>T) n.1141C>T c.1008C>T (p.Gly336=) c.969C>T (p.Gly323=) c.1263C>T (p.Gly421=) c.1122C>T (p.Gly374=) | |
| 12 | g.109798656G>C | CA481867215 | TRPV4 | c.1110C>G (p.Gly370=) c.*197C>G (n.*197C>G) n.1141C>G c.1008C>G (p.Gly336=) c.969C>G (p.Gly323=) c.1263C>G (p.Gly421=) c.1122C>G (p.Gly374=) |