| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 12 | g.109798656G>T | CA481867216 | TRPV4 | c.1110C>A (p.Gly370=) c.*197C>A (n.*197C>A) n.1141C>A c.1008C>A (p.Gly336=) c.969C>A (p.Gly323=) c.1263C>A (p.Gly421=) c.1122C>A (p.Gly374=) | ClinVar dbSNP COSMIC |
| 12 | g.109798657C>A | CA386654151 | TRPV4 | c.1109G>T (p.Gly370Val) c.*196G>T (n.*196G>T) n.1140G>T c.1007G>T (p.Gly336Val) c.968G>T (p.Gly323Val) c.1262G>T (p.Gly421Val) c.1121G>T (p.Gly374Val) | |
| 12 | g.109798657C>G | CA386654153 | TRPV4 | c.1109G>C (p.Gly370Ala) c.*196G>C (n.*196G>C) n.1140G>C c.1007G>C (p.Gly336Ala) c.968G>C (p.Gly323Ala) c.1262G>C (p.Gly421Ala) c.1121G>C (p.Gly374Ala) | |
| 12 | g.109798657C>T | CA386654154 | TRPV4 | c.1109G>A (p.Gly370Asp) c.*196G>A (n.*196G>A) n.1140G>A c.1007G>A (p.Gly336Asp) c.968G>A (p.Gly323Asp) c.1262G>A (p.Gly421Asp) c.1121G>A (p.Gly374Asp) | |
| 12 | g.109798658C>A | CA386654156 | TRPV4 | c.1108G>T (p.Gly370Cys) c.*195G>T (n.*195G>T) n.1139G>T c.1006G>T (p.Gly336Cys) c.967G>T (p.Gly323Cys) c.1261G>T (p.Gly421Cys) c.1120G>T (p.Gly374Cys) | |
| 12 | g.109798658C= | CA2062572837 | TRPV4 | c.1108G= (p.Gly370=) c.*195G= (n.*195G=) n.1139G= c.1006G= (p.Gly336=) c.967G= (p.Gly323=) c.1261G= (p.Gly421=) c.1120G= (p.Gly374=) | |
| 12 | g.109798658C>G | CA386654158 | TRPV4 | c.1108G>C (p.Gly370Arg) c.*195G>C (n.*195G>C) n.1139G>C c.1006G>C (p.Gly336Arg) c.967G>C (p.Gly323Arg) c.1261G>C (p.Gly421Arg) c.1120G>C (p.Gly374Arg) | |
| 12 | g.109798658C>T | CA6780348 | TRPV4 | c.1108G>A (p.Gly370Ser) c.*195G>A (n.*195G>A) n.1139G>A c.1006G>A (p.Gly336Ser) c.967G>A (p.Gly323Ser) c.1261G>A (p.Gly421Ser) c.1120G>A (p.Gly374Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798659G>A | CA6780349 | TRPV4 | c.1107C>T (p.Asp369=) c.*194C>T (n.*194C>T) n.1138C>T c.1005C>T (p.Asp335=) c.966C>T (p.Asp322=) c.1260C>T (p.Asp420=) c.1119C>T (p.Asp373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798659G>C | CA386654161 | TRPV4 | c.1107C>G (p.Asp369Glu) c.*194C>G (n.*194C>G) n.1138C>G c.1005C>G (p.Asp335Glu) c.966C>G (p.Asp322Glu) c.1260C>G (p.Asp420Glu) c.1119C>G (p.Asp373Glu) | |
| 12 | g.109798659G= | CA2062572841 | TRPV4 | c.1107C= (p.Asp369=) c.*194C= (n.*194C=) n.1138C= c.1005C= (p.Asp335=) c.966C= (p.Asp322=) c.1260C= (p.Asp420=) c.1119C= (p.Asp373=) | |
| 12 | g.109798659G>T | CA386654162 | TRPV4 | c.1107C>A (p.Asp369Glu) c.*194C>A (n.*194C>A) n.1138C>A c.1005C>A (p.Asp335Glu) c.966C>A (p.Asp322Glu) c.1260C>A (p.Asp420Glu) c.1119C>A (p.Asp373Glu) | gnomAD v4 |
| 12 | g.109798660T>A | CA386654168 | TRPV4 | c.1106A>T (p.Asp369Val) c.*193A>T (n.*193A>T) n.1137A>T c.1004A>T (p.Asp335Val) c.965A>T (p.Asp322Val) c.1259A>T (p.Asp420Val) c.1118A>T (p.Asp373Val) | |
| 12 | g.109798660T>C | CA386654166 | TRPV4 | c.1106A>G (p.Asp369Gly) c.*193A>G (n.*193A>G) n.1137A>G c.1004A>G (p.Asp335Gly) c.965A>G (p.Asp322Gly) c.1259A>G (p.Asp420Gly) c.1118A>G (p.Asp373Gly) | |
| 12 | g.109798660T>G | CA386654164 | TRPV4 | c.1106A>C (p.Asp369Ala) c.*193A>C (n.*193A>C) n.1137A>C c.1004A>C (p.Asp335Ala) c.965A>C (p.Asp322Ala) c.1259A>C (p.Asp420Ala) c.1118A>C (p.Asp373Ala) | |
| 12 | g.109798661C>A | CA243467477 | TRPV4 | c.1105G>T (p.Asp369Tyr) c.*192G>T (n.*192G>T) n.1136G>T c.1003G>T (p.Asp335Tyr) c.964G>T (p.Asp322Tyr) c.1258G>T (p.Asp420Tyr) c.1117G>T (p.Asp373Tyr) | dbSNP |
| 12 | g.109798661C= | CA2062572844 | TRPV4 | c.1105G= (p.Asp369=) c.*192G= (n.*192G=) n.1136G= c.1003G= (p.Asp335=) c.964G= (p.Asp322=) c.1258G= (p.Asp420=) c.1117G= (p.Asp373=) | |
| 12 | g.109798661C>G | CA6780351 | TRPV4 | c.1105G>C (p.Asp369His) c.*192G>C (n.*192G>C) n.1136G>C c.1003G>C (p.Asp335His) c.964G>C (p.Asp322His) c.1258G>C (p.Asp420His) c.1117G>C (p.Asp373His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.109798661C>T | CA6780350 | TRPV4 | c.1105G>A (p.Asp369Asn) c.*192G>A (n.*192G>A) n.1136G>A c.1003G>A (p.Asp335Asn) c.964G>A (p.Asp322Asn) c.1258G>A (p.Asp420Asn) c.1117G>A (p.Asp373Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109798662G>A | CA6780352 | TRPV4 | c.1104C>T (p.Asn368=) c.*191C>T (n.*191C>T) n.1135C>T c.1002C>T (p.Asn334=) c.963C>T (p.Asn321=) c.1257C>T (p.Asn419=) c.1116C>T (p.Asn372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798662G>C | CA386654172 | TRPV4 | c.1104C>G (p.Asn368Lys) c.*191C>G (n.*191C>G) n.1135C>G c.1002C>G (p.Asn334Lys) c.963C>G (p.Asn321Lys) c.1257C>G (p.Asn419Lys) c.1116C>G (p.Asn372Lys) | |
| 12 | g.109798662G= | CA2062572849 | TRPV4 | c.1104C= (p.Asn368=) c.*191C= (n.*191C=) n.1135C= c.1002C= (p.Asn334=) c.963C= (p.Asn321=) c.1257C= (p.Asn419=) c.1116C= (p.Asn372=) | |
| 12 | g.109798662G>T | CA386654173 | TRPV4 | c.1104C>A (p.Asn368Lys) c.*191C>A (n.*191C>A) n.1135C>A c.1002C>A (p.Asn334Lys) c.963C>A (p.Asn321Lys) c.1257C>A (p.Asn419Lys) c.1116C>A (p.Asn372Lys) | |
| 12 | g.109798666_109798668del | CA2620828299 | TRPV4 | c.1102_1104del (p.Asn368del) c.*189_*191del (n.*189_*191del) n.1133_1135del c.1000_1002del (p.Asn334del) c.961_963del (p.Asn321del) c.1255_1257del (p.Asn419del) c.1114_1116del (p.Asn372del) | gnomAD v4 |
| 12 | g.109798663T>A | CA386654176 | TRPV4 | c.1103A>T (p.Asn368Ile) c.*190A>T (n.*190A>T) n.1134A>T c.1001A>T (p.Asn334Ile) c.962A>T (p.Asn321Ile) c.1256A>T (p.Asn419Ile) c.1115A>T (p.Asn372Ile) | |
| 12 | g.109798663T>C | CA386654177 | TRPV4 | c.1103A>G (p.Asn368Ser) c.*190A>G (n.*190A>G) n.1134A>G c.1001A>G (p.Asn334Ser) c.962A>G (p.Asn321Ser) c.1256A>G (p.Asn419Ser) c.1115A>G (p.Asn372Ser) | dbSNP gnomAD v2 COSMIC |
| 12 | g.109798663T>G | CA386654179 | TRPV4 | c.1103A>C (p.Asn368Thr) c.*190A>C (n.*190A>C) n.1134A>C c.1001A>C (p.Asn334Thr) c.962A>C (p.Asn321Thr) c.1256A>C (p.Asn419Thr) c.1115A>C (p.Asn372Thr) | |
| 12 | g.109798663T= | CA2062572851 | TRPV4 | c.1103A= (p.Asn368=) c.*190A= (n.*190A=) n.1134A= c.1001A= (p.Asn334=) c.962A= (p.Asn321=) c.1256A= (p.Asn419=) c.1115A= (p.Asn372=) | |
| 12 | g.109798664T>A | CA386654181 | TRPV4 | c.1102A>T (p.Asn368Tyr) c.*189A>T (n.*189A>T) n.1133A>T c.1000A>T (p.Asn334Tyr) c.961A>T (p.Asn321Tyr) c.1255A>T (p.Asn419Tyr) c.1114A>T (p.Asn372Tyr) | |
| 12 | g.109798664T>C | CA386654183 | TRPV4 | c.1102A>G (p.Asn368Asp) c.*189A>G (n.*189A>G) n.1133A>G c.1000A>G (p.Asn334Asp) c.961A>G (p.Asn321Asp) c.1255A>G (p.Asn419Asp) c.1114A>G (p.Asn372Asp) | |
| 12 | g.109798664T>G | CA386654185 | TRPV4 | c.1102A>C (p.Asn368His) c.*189A>C (n.*189A>C) n.1133A>C c.1000A>C (p.Asn334His) c.961A>C (p.Asn321His) c.1255A>C (p.Asn419His) c.1114A>C (p.Asn372His) | |
| 12 | g.109798665G>A | CA481867234 | TRPV4 | c.1101C>T (p.Asn367=) c.*188C>T (n.*188C>T) n.1132C>T c.999C>T (p.Asn333=) c.960C>T (p.Asn320=) c.1254C>T (p.Asn418=) c.1113C>T (p.Asn371=) | |
| 12 | g.109798665G>C | CA386654188 | TRPV4 | c.1101C>G (p.Asn367Lys) c.*188C>G (n.*188C>G) n.1132C>G c.999C>G (p.Asn333Lys) c.960C>G (p.Asn320Lys) c.1254C>G (p.Asn418Lys) c.1113C>G (p.Asn371Lys) | |
| 12 | g.109798665G= | CA2062572853 | TRPV4 | c.1101C= (p.Asn367=) c.*188C= (n.*188C=) n.1132C= c.999C= (p.Asn333=) c.960C= (p.Asn320=) c.1254C= (p.Asn418=) c.1113C= (p.Asn371=) | |
| 12 | g.109798665G>T | CA386654186 | TRPV4 | c.1101C>A (p.Asn367Lys) c.*188C>A (n.*188C>A) n.1132C>A c.999C>A (p.Asn333Lys) c.960C>A (p.Asn320Lys) c.1254C>A (p.Asn418Lys) c.1113C>A (p.Asn371Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798666T>A | CA386654190 | TRPV4 | c.1100A>T (p.Asn367Ile) c.*187A>T (n.*187A>T) n.1131A>T c.998A>T (p.Asn333Ile) c.959A>T (p.Asn320Ile) c.1253A>T (p.Asn418Ile) c.1112A>T (p.Asn371Ile) | |
| 12 | g.109798666T>C | CA386654192 | TRPV4 | c.1100A>G (p.Asn367Ser) c.*187A>G (n.*187A>G) n.1131A>G c.998A>G (p.Asn333Ser) c.959A>G (p.Asn320Ser) c.1253A>G (p.Asn418Ser) c.1112A>G (p.Asn371Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798666T>G | CA386654193 | TRPV4 | c.1100A>C (p.Asn367Thr) c.*187A>C (n.*187A>C) n.1131A>C c.998A>C (p.Asn333Thr) c.959A>C (p.Asn320Thr) c.1253A>C (p.Asn418Thr) c.1112A>C (p.Asn371Thr) | |
| 12 | g.109798666T= | CA2062572856 | TRPV4 | c.1100A= (p.Asn367=) c.*187A= (n.*187A=) n.1131A= c.998A= (p.Asn333=) c.959A= (p.Asn320=) c.1253A= (p.Asn418=) c.1112A= (p.Asn371=) | |
| 12 | g.109798667T>A | CA386654196 | TRPV4 | c.1099A>T (p.Asn367Tyr) c.*186A>T (n.*186A>T) n.1130A>T c.997A>T (p.Asn333Tyr) c.958A>T (p.Asn320Tyr) c.1252A>T (p.Asn418Tyr) c.1111A>T (p.Asn371Tyr) | |
| 12 | g.109798667T>C | CA386654198 | TRPV4 | c.1099A>G (p.Asn367Asp) c.*186A>G (n.*186A>G) n.1130A>G c.997A>G (p.Asn333Asp) c.958A>G (p.Asn320Asp) c.1252A>G (p.Asn418Asp) c.1111A>G (p.Asn371Asp) | dbSNP gnomAD v4 |
| 12 | g.109798667T>G | CA386654199 | TRPV4 | c.1099A>C (p.Asn367His) c.*186A>C (n.*186A>C) n.1130A>C c.997A>C (p.Asn333His) c.958A>C (p.Asn320His) c.1252A>C (p.Asn418His) c.1111A>C (p.Asn371His) | |
| 12 | g.109798667T= | CA2062572859 | TRPV4 | c.1099A= (p.Asn367=) c.*186A= (n.*186A=) n.1130A= c.997A= (p.Asn333=) c.958A= (p.Asn320=) c.1252A= (p.Asn418=) c.1111A= (p.Asn371=) | |
| 12 | g.109798668G>A | CA481867244 | TRPV4 | c.1098C>T (p.Leu366=) c.*185C>T (n.*185C>T) n.1129C>T c.996C>T (p.Leu332=) c.957C>T (p.Leu319=) c.1251C>T (p.Leu417=) c.1110C>T (p.Leu370=) | COSMIC |
| 12 | g.109798668G>C | CA481867247 | TRPV4 | c.1098C>G (p.Leu366=) c.*185C>G (n.*185C>G) n.1129C>G c.996C>G (p.Leu332=) c.957C>G (p.Leu319=) c.1251C>G (p.Leu417=) c.1110C>G (p.Leu370=) | |
| 12 | g.109798668G>T | CA481867246 | TRPV4 | c.1098C>A (p.Leu366=) c.*185C>A (n.*185C>A) n.1129C>A c.996C>A (p.Leu332=) c.957C>A (p.Leu319=) c.1251C>A (p.Leu417=) c.1110C>A (p.Leu370=) | |
| 12 | g.109798669A= | CA2062572861 | TRPV4 | c.1097T= (p.Leu366=) c.*184T= (n.*184T=) n.1128T= c.995T= (p.Leu332=) c.956T= (p.Leu319=) c.1250T= (p.Leu417=) c.1109T= (p.Leu370=) | |
| 12 | g.109798669A>C | CA386654201 | TRPV4 | c.1097T>G (p.Leu366Arg) c.*184T>G (n.*184T>G) n.1128T>G c.995T>G (p.Leu332Arg) c.956T>G (p.Leu319Arg) c.1250T>G (p.Leu417Arg) c.1109T>G (p.Leu370Arg) | |
| 12 | g.109798669A>G | CA386654203 | TRPV4 | c.1097T>C (p.Leu366Pro) c.*184T>C (n.*184T>C) n.1128T>C c.995T>C (p.Leu332Pro) c.956T>C (p.Leu319Pro) c.1250T>C (p.Leu417Pro) c.1109T>C (p.Leu370Pro) | dbSNP gnomAD v2 |
| 12 | g.109798669A>T | CA386654204 | TRPV4 | c.1097T>A (p.Leu366His) c.*184T>A (n.*184T>A) n.1128T>A c.995T>A (p.Leu332His) c.956T>A (p.Leu319His) c.1250T>A (p.Leu417His) c.1109T>A (p.Leu370His) | |
| 12 | g.109798670G>A | CA386654206 | TRPV4 | c.1096C>T (p.Leu366Phe) c.*183C>T (n.*183C>T) n.1127C>T c.994C>T (p.Leu332Phe) c.955C>T (p.Leu319Phe) c.1249C>T (p.Leu417Phe) c.1108C>T (p.Leu370Phe) | |
| 12 | g.109798670G>C | CA386654208 | TRPV4 | c.1096C>G (p.Leu366Val) c.*183C>G (n.*183C>G) n.1127C>G c.994C>G (p.Leu332Val) c.955C>G (p.Leu319Val) c.1249C>G (p.Leu417Val) c.1108C>G (p.Leu370Val) | |
| 12 | g.109798670G>T | CA386654209 | TRPV4 | c.1096C>A (p.Leu366Ile) c.*183C>A (n.*183C>A) n.1127C>A c.994C>A (p.Leu332Ile) c.955C>A (p.Leu319Ile) c.1249C>A (p.Leu417Ile) c.1108C>A (p.Leu370Ile) | |
| 12 | g.109798671C>A | CA481867253 | TRPV4 | c.1095G>T (p.Val365=) c.*182G>T (n.*182G>T) n.1126G>T c.993G>T (p.Val331=) c.954G>T (p.Val318=) c.1248G>T (p.Val416=) c.1107G>T (p.Val369=) | COSMIC |
| 12 | g.109798671C>G | CA481867258 | TRPV4 | c.1095G>C (p.Val365=) c.*182G>C (n.*182G>C) n.1126G>C c.993G>C (p.Val331=) c.954G>C (p.Val318=) c.1248G>C (p.Val416=) c.1107G>C (p.Val369=) | |
| 12 | g.109798671C>T | CA481867259 | TRPV4 | c.1095G>A (p.Val365=) c.*182G>A (n.*182G>A) n.1126G>A c.993G>A (p.Val331=) c.954G>A (p.Val318=) c.1248G>A (p.Val416=) c.1107G>A (p.Val369=) | |
| 12 | g.109798672A>C | CA386654215 | TRPV4 | c.1094T>G (p.Val365Gly) c.*181T>G (n.*181T>G) n.1125T>G c.992T>G (p.Val331Gly) c.953T>G (p.Val318Gly) c.1247T>G (p.Val416Gly) c.1106T>G (p.Val369Gly) | |
| 12 | g.109798672A>G | CA386654214 | TRPV4 | c.1094T>C (p.Val365Ala) c.*181T>C (n.*181T>C) n.1125T>C c.992T>C (p.Val331Ala) c.953T>C (p.Val318Ala) c.1247T>C (p.Val416Ala) c.1106T>C (p.Val369Ala) | |
| 12 | g.109798672A>T | CA386654212 | TRPV4 | c.1094T>A (p.Val365Glu) c.*181T>A (n.*181T>A) n.1125T>A c.992T>A (p.Val331Glu) c.953T>A (p.Val318Glu) c.1247T>A (p.Val416Glu) c.1106T>A (p.Val369Glu) | |
| 12 | g.109798672_109798690delinsACGGCCTCCAGGTTGCTGT | CA2062572863 | TRPV4 | c.1076_1094delinsACAGCAACCTGGAGGCCGT (p.Asp359=) c.*163_*181delinsACAGCAACCTGGAGGCCGT (n.*163_*181delinsACAGCAACCTGGAGGCCGT) n.1107_1125delinsACAGCAACCTGGAGGCCGT c.974_992delinsACAGCAACCTGGAGGCCGT (p.Asp325=) c.935_953delinsACAGCAACCTGGAGGCCGT (p.Asp312=) c.1229_1247delinsACAGCAACCTGGAGGCCGT (p.Asp410=) c.1088_1106delinsACAGCAACCTGGAGGCCGT (p.Asp363=) | |
| 12 | g.109798673C>A | CA386654217 | TRPV4 | c.1093G>T (p.Val365Leu) c.*180G>T (n.*180G>T) n.1124G>T c.991G>T (p.Val331Leu) c.952G>T (p.Val318Leu) c.1246G>T (p.Val416Leu) c.1105G>T (p.Val369Leu) | |
| 12 | g.109798673C= | CA2062572871 | TRPV4 | c.1093G= (p.Val365=) c.*180G= (n.*180G=) n.1124G= c.991G= (p.Val331=) c.952G= (p.Val318=) c.1246G= (p.Val416=) c.1105G= (p.Val369=) | |
| 12 | g.109798673C>G | CA386654219 | TRPV4 | c.1093G>C (p.Val365Leu) c.*180G>C (n.*180G>C) n.1124G>C c.991G>C (p.Val331Leu) c.952G>C (p.Val318Leu) c.1246G>C (p.Val416Leu) c.1105G>C (p.Val369Leu) | ClinVar |
| 12 | g.109798673C>T | CA6780353 | TRPV4 | c.1093G>A (p.Val365Met) c.*180G>A (n.*180G>A) n.1124G>A c.991G>A (p.Val331Met) c.952G>A (p.Val318Met) c.1246G>A (p.Val416Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798676_109798693del | CA915946699 | TRPV4 | c.1076_1093del (p.Asp359_Ala364del) c.*163_*180del (n.*163_*180del) n.1107_1124del c.974_991del (p.Asp325_Ala330del) c.935_952del (p.Asp312_Ala317del) c.1229_1246del (p.Asp410_Ala415del) c.1088_1105del (p.Asp363_Ala368del) | ClinVar dbSNP |
| 12 | g.109798674G>A | CA6780354 | TRPV4 | c.1092C>T (p.Ala364=) c.*179C>T (n.*179C>T) n.1123C>T c.990C>T (p.Ala330=) c.951C>T (p.Ala317=) c.1245C>T (p.Ala415=) c.1104C>T (p.Ala368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109798674G>C | CA481867267 | TRPV4 | c.1092C>G (p.Ala364=) c.*179C>G (n.*179C>G) n.1123C>G c.990C>G (p.Ala330=) c.951C>G (p.Ala317=) c.1245C>G (p.Ala415=) c.1104C>G (p.Ala368=) | |
| 12 | g.109798674G= | CA2062572874 | TRPV4 | c.1092C= (p.Ala364=) c.*179C= (n.*179C=) n.1123C= c.990C= (p.Ala330=) c.951C= (p.Ala317=) c.1245C= (p.Ala415=) c.1104C= (p.Ala368=) | |
| 12 | g.109798674G>T | CA481867268 | TRPV4 | c.1092C>A (p.Ala364=) c.*179C>A (n.*179C>A) n.1123C>A c.990C>A (p.Ala330=) c.951C>A (p.Ala317=) c.1245C>A (p.Ala415=) c.1104C>A (p.Ala368=) | |
| 12 | g.109798675G>A | CA386654226 | TRPV4 | c.1091C>T (p.Ala364Val) c.*178C>T (n.*178C>T) n.1122C>T c.989C>T (p.Ala330Val) c.950C>T (p.Ala317Val) c.1244C>T (p.Ala415Val) c.1103C>T (p.Ala368Val) | COSMIC |
| 12 | g.109798675G>C | CA386654223 | TRPV4 | c.1091C>G (p.Ala364Gly) c.*178C>G (n.*178C>G) n.1122C>G c.989C>G (p.Ala330Gly) c.950C>G (p.Ala317Gly) c.1244C>G (p.Ala415Gly) c.1103C>G (p.Ala368Gly) | |
| 12 | g.109798675G>T | CA386654224 | TRPV4 | c.1091C>A (p.Ala364Asp) c.*178C>A (n.*178C>A) n.1122C>A c.989C>A (p.Ala330Asp) c.950C>A (p.Ala317Asp) c.1244C>A (p.Ala415Asp) c.1103C>A (p.Ala368Asp) | |
| 12 | g.109798676C>A | CA386654228 | TRPV4 | c.1090G>T (p.Ala364Ser) c.*177G>T (n.*177G>T) n.1121G>T c.988G>T (p.Ala330Ser) c.949G>T (p.Ala317Ser) c.1243G>T (p.Ala415Ser) c.1102G>T (p.Ala368Ser) | |
| 12 | g.109798676C= | CA2062572877 | TRPV4 | c.1090G= (p.Ala364=) c.*177G= (n.*177G=) n.1121G= c.988G= (p.Ala330=) c.949G= (p.Ala317=) c.1243G= (p.Ala415=) c.1102G= (p.Ala368=) | |
| 12 | g.109798676C>G | CA386654230 | TRPV4 | c.1090G>C (p.Ala364Pro) c.*177G>C (n.*177G>C) n.1121G>C c.988G>C (p.Ala330Pro) c.949G>C (p.Ala317Pro) c.1243G>C (p.Ala415Pro) c.1102G>C (p.Ala368Pro) | |
| 12 | g.109798676C>T | CA243467529 | TRPV4 | c.1090G>A (p.Ala364Thr) c.*177G>A (n.*177G>A) n.1121G>A c.988G>A (p.Ala330Thr) c.949G>A (p.Ala317Thr) c.1243G>A (p.Ala415Thr) c.1102G>A (p.Ala368Thr) | dbSNP |
| 12 | g.109798677C>A | CA386654232 | TRPV4 | c.1089G>T (p.Glu363Asp) c.*176G>T (n.*176G>T) n.1120G>T c.987G>T (p.Glu329Asp) c.948G>T (p.Glu316Asp) c.1242G>T (p.Glu414Asp) c.1101G>T (p.Glu367Asp) | |
| 12 | g.109798677C>G | CA386654234 | TRPV4 | c.1089G>C (p.Glu363Asp) c.*176G>C (n.*176G>C) n.1120G>C c.987G>C (p.Glu329Asp) c.948G>C (p.Glu316Asp) c.1242G>C (p.Glu414Asp) c.1101G>C (p.Glu367Asp) | |
| 12 | g.109798677C>T | CA481867275 | TRPV4 | c.1089G>A (p.Glu363=) c.*176G>A (n.*176G>A) n.1120G>A c.987G>A (p.Glu329=) c.948G>A (p.Glu316=) c.1242G>A (p.Glu414=) c.1101G>A (p.Glu367=) | |
| 12 | g.109798678T>A | CA386654236 | TRPV4 | c.1088A>T (p.Glu363Val) c.*175A>T (n.*175A>T) n.1119A>T c.986A>T (p.Glu329Val) c.947A>T (p.Glu316Val) c.1241A>T (p.Glu414Val) c.1100A>T (p.Glu367Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798678T>C | CA386654237 | TRPV4 | c.1088A>G (p.Glu363Gly) c.*175A>G (n.*175A>G) n.1119A>G c.986A>G (p.Glu329Gly) c.947A>G (p.Glu316Gly) c.1241A>G (p.Glu414Gly) c.1100A>G (p.Glu367Gly) | |
| 12 | g.109798678T>G | CA386654239 | TRPV4 | c.1088A>C (p.Glu363Ala) c.*175A>C (n.*175A>C) n.1119A>C c.986A>C (p.Glu329Ala) c.947A>C (p.Glu316Ala) c.1241A>C (p.Glu414Ala) c.1100A>C (p.Glu367Ala) | |
| 12 | g.109798678T= | CA2062572879 | TRPV4 | c.1088A= (p.Glu363=) c.*175A= (n.*175A=) n.1119A= c.986A= (p.Glu329=) c.947A= (p.Glu316=) c.1241A= (p.Glu414=) c.1100A= (p.Glu367=) | |
| 12 | g.109798678_109798679delinsAA | CA916081680 | TRPV4 | c.1087_1088delinsTT (p.Glu363Leu) c.*174_*175delinsTT (n.*174_*175delinsTT) n.1118_1119delinsTT c.985_986delinsTT (p.Glu329Leu) c.946_947delinsTT (p.Glu316Leu) c.1240_1241delinsTT (p.Glu414Leu) c.1099_1100delinsTT (p.Glu367Leu) | ClinVar dbSNP |
| 12 | g.109798678_109798679delinsTC | CA2062572880 | TRPV4 | c.1087_1088delinsGA (p.Glu363=) c.*174_*175delinsGA (n.*174_*175delinsGA) n.1118_1119delinsGA c.985_986delinsGA (p.Glu329=) c.946_947delinsGA (p.Glu316=) c.1240_1241delinsGA (p.Glu414=) c.1099_1100delinsGA (p.Glu367=) | |
| 12 | g.109798679C>A | CA386654241 | TRPV4 | c.1087G>T (p.Glu363Ter) c.*174G>T (n.*174G>T) n.1118G>T c.985G>T (p.Glu329Ter) c.946G>T (p.Glu316Ter) c.1240G>T (p.Glu414Ter) c.1099G>T (p.Glu367Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798679C= | CA2062572884 | TRPV4 | c.1087G= (p.Glu363=) c.*174G= (n.*174G=) n.1118G= c.985G= (p.Glu329=) c.946G= (p.Glu316=) c.1240G= (p.Glu414=) c.1099G= (p.Glu367=) | |
| 12 | g.109798679C>G | CA386654243 | TRPV4 | c.1087G>C (p.Glu363Gln) c.*174G>C (n.*174G>C) n.1118G>C c.985G>C (p.Glu329Gln) c.946G>C (p.Glu316Gln) c.1240G>C (p.Glu414Gln) c.1099G>C (p.Glu367Gln) | ClinVar dbSNP |
| 12 | g.109798679C>T | CA386654245 | TRPV4 | c.1087G>A (p.Glu363Lys) c.*174G>A (n.*174G>A) n.1118G>A c.985G>A (p.Glu329Lys) c.946G>A (p.Glu316Lys) c.1240G>A (p.Glu414Lys) c.1099G>A (p.Glu367Lys) | |
| 12 | g.109798680C>A | CA481867285 | TRPV4 | c.1086G>T (p.Leu362=) c.*173G>T (n.*173G>T) n.1117G>T c.984G>T (p.Leu328=) c.945G>T (p.Leu315=) c.1239G>T (p.Leu413=) c.1098G>T (p.Leu366=) | |
| 12 | g.109798680C>G | CA481867282 | TRPV4 | c.1086G>C (p.Leu362=) c.*173G>C (n.*173G>C) n.1117G>C c.984G>C (p.Leu328=) c.945G>C (p.Leu315=) c.1239G>C (p.Leu413=) c.1098G>C (p.Leu366=) | |
| 12 | g.109798680C>T | CA481867283 | TRPV4 | c.1086G>A (p.Leu362=) c.*173G>A (n.*173G>A) n.1117G>A c.984G>A (p.Leu328=) c.945G>A (p.Leu315=) c.1239G>A (p.Leu413=) c.1098G>A (p.Leu366=) | |
| 12 | g.109798681A>C | CA386654247 | TRPV4 | c.1085T>G (p.Leu362Arg) c.*172T>G (n.*172T>G) n.1116T>G c.983T>G (p.Leu328Arg) c.944T>G (p.Leu315Arg) c.1238T>G (p.Leu413Arg) c.1097T>G (p.Leu366Arg) | |
| 12 | g.109798681A>G | CA386654251 | TRPV4 | c.1085T>C (p.Leu362Pro) c.*172T>C (n.*172T>C) n.1116T>C c.983T>C (p.Leu328Pro) c.944T>C (p.Leu315Pro) c.1238T>C (p.Leu413Pro) c.1097T>C (p.Leu366Pro) | gnomAD v4 |
| 12 | g.109798681A>T | CA386654248 | TRPV4 | c.1085T>A (p.Leu362Gln) c.*172T>A (n.*172T>A) n.1116T>A c.983T>A (p.Leu328Gln) c.944T>A (p.Leu315Gln) c.1238T>A (p.Leu413Gln) c.1097T>A (p.Leu366Gln) | |
| 12 | g.109798682G>A | CA481867290 | TRPV4 | c.1084C>T (p.Leu362=) c.*171C>T (n.*171C>T) n.1115C>T c.982C>T (p.Leu328=) c.943C>T (p.Leu315=) c.1237C>T (p.Leu413=) c.1096C>T (p.Leu366=) | ClinVar gnomAD v4 |
| 12 | g.109798682G>C | CA386654253 | TRPV4 | c.1084C>G (p.Leu362Val) c.*171C>G (n.*171C>G) n.1115C>G c.982C>G (p.Leu328Val) c.943C>G (p.Leu315Val) c.1237C>G (p.Leu413Val) c.1096C>G (p.Leu366Val) | |
| 12 | g.109798682G= | CA2062572887 | TRPV4 | c.1084C= (p.Leu362=) c.*171C= (n.*171C=) n.1115C= c.982C= (p.Leu328=) c.943C= (p.Leu315=) c.1237C= (p.Leu413=) c.1096C= (p.Leu366=) | |
| 12 | g.109798682G>T | CA386654254 | TRPV4 | c.1084C>A (p.Leu362Met) c.*171C>A (n.*171C>A) n.1115C>A c.982C>A (p.Leu328Met) c.943C>A (p.Leu315Met) c.1237C>A (p.Leu413Met) c.1096C>A (p.Leu366Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798683G>A | CA481867292 | TRPV4 | c.1083C>T (p.Asn361=) c.*170C>T (n.*170C>T) n.1114C>T c.981C>T (p.Asn327=) c.942C>T (p.Asn314=) c.1236C>T (p.Asn412=) c.1095C>T (p.Asn365=) | ClinVar |
| 12 | g.109798683G>C | CA386654256 | TRPV4 | c.1083C>G (p.Asn361Lys) c.*170C>G (n.*170C>G) n.1114C>G c.981C>G (p.Asn327Lys) c.942C>G (p.Asn314Lys) c.1236C>G (p.Asn412Lys) c.1095C>G (p.Asn365Lys) | |
| 12 | g.109798683G>T | CA386654258 | TRPV4 | c.1083C>A (p.Asn361Lys) c.*170C>A (n.*170C>A) n.1114C>A c.981C>A (p.Asn327Lys) c.942C>A (p.Asn314Lys) c.1236C>A (p.Asn412Lys) c.1095C>A (p.Asn365Lys) | ClinVar dbSNP |
| 12 | g.109798684T>A | CA386654260 | TRPV4 | c.1082A>T (p.Asn361Ile) c.*169A>T (n.*169A>T) n.1113A>T c.980A>T (p.Asn327Ile) c.941A>T (p.Asn314Ile) c.1235A>T (p.Asn412Ile) c.1094A>T (p.Asn365Ile) | |
| 12 | g.109798684T>C | CA386654261 | TRPV4 | c.1082A>G (p.Asn361Ser) c.*169A>G (n.*169A>G) n.1113A>G c.980A>G (p.Asn327Ser) c.941A>G (p.Asn314Ser) c.1235A>G (p.Asn412Ser) c.1094A>G (p.Asn365Ser) | gnomAD v4 |
| 12 | g.109798684T>G | CA386654263 | TRPV4 | c.1082A>C (p.Asn361Thr) c.*169A>C (n.*169A>C) n.1113A>C c.980A>C (p.Asn327Thr) c.941A>C (p.Asn314Thr) c.1235A>C (p.Asn412Thr) c.1094A>C (p.Asn365Thr) | |
| 12 | g.109798685T>A | CA386654265 | TRPV4 | c.1081A>T (p.Asn361Tyr) c.*168A>T (n.*168A>T) n.1112A>T c.979A>T (p.Asn327Tyr) c.940A>T (p.Asn314Tyr) c.1234A>T (p.Asn412Tyr) c.1093A>T (p.Asn365Tyr) | |
| 12 | g.109798685T>C | CA386654267 | TRPV4 | c.1081A>G (p.Asn361Asp) c.*168A>G (n.*168A>G) n.1112A>G c.979A>G (p.Asn327Asp) c.940A>G (p.Asn314Asp) c.1234A>G (p.Asn412Asp) c.1093A>G (p.Asn365Asp) | |
| 12 | g.109798685T>G | CA386654268 | TRPV4 | c.1081A>C (p.Asn361His) c.*168A>C (n.*168A>C) n.1112A>C c.979A>C (p.Asn327His) c.940A>C (p.Asn314His) c.1234A>C (p.Asn412His) c.1093A>C (p.Asn365His) | |
| 12 | g.109798686G>A | CA481867298 | TRPV4 | c.1080C>T (p.Ser360=) c.*167C>T (n.*167C>T) n.1111C>T c.978C>T (p.Ser326=) c.939C>T (p.Ser313=) c.1233C>T (p.Ser411=) c.1092C>T (p.Ser364=) | |
| 12 | g.109798686G>C | CA386654272 | TRPV4 | c.1080C>G (p.Ser360Arg) c.*167C>G (n.*167C>G) n.1111C>G c.978C>G (p.Ser326Arg) c.939C>G (p.Ser313Arg) c.1233C>G (p.Ser411Arg) c.1092C>G (p.Ser364Arg) | gnomAD v4 |
| 12 | g.109798686G>T | CA386654270 | TRPV4 | c.1080C>A (p.Ser360Arg) c.*167C>A (n.*167C>A) n.1111C>A c.978C>A (p.Ser326Arg) c.939C>A (p.Ser313Arg) c.1233C>A (p.Ser411Arg) c.1092C>A (p.Ser364Arg) | |
| 12 | g.109798687C>A | CA386654273 | TRPV4 | c.1079G>T (p.Ser360Ile) c.*166G>T (n.*166G>T) n.1110G>T c.977G>T (p.Ser326Ile) c.938G>T (p.Ser313Ile) c.1232G>T (p.Ser411Ile) c.1091G>T (p.Ser364Ile) | |
| 12 | g.109798687C>G | CA386654274 | TRPV4 | c.1079G>C (p.Ser360Thr) c.*166G>C (n.*166G>C) n.1110G>C c.977G>C (p.Ser326Thr) c.938G>C (p.Ser313Thr) c.1232G>C (p.Ser411Thr) c.1091G>C (p.Ser364Thr) | |
| 12 | g.109798687C>T | CA386654276 | TRPV4 | c.1079G>A (p.Ser360Asn) c.*166G>A (n.*166G>A) n.1110G>A c.977G>A (p.Ser326Asn) c.938G>A (p.Ser313Asn) c.1232G>A (p.Ser411Asn) c.1091G>A (p.Ser364Asn) | gnomAD v4 |
| 12 | g.109798688T>A | CA6780355 | TRPV4 | c.1078A>T (p.Ser360Cys) c.*165A>T (n.*165A>T) n.1109A>T c.976A>T (p.Ser326Cys) c.937A>T (p.Ser313Cys) c.1231A>T (p.Ser411Cys) c.1090A>T (p.Ser364Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798688T>C | CA386654279 | TRPV4 | c.1078A>G (p.Ser360Gly) c.*165A>G (n.*165A>G) n.1109A>G c.976A>G (p.Ser326Gly) c.937A>G (p.Ser313Gly) c.1231A>G (p.Ser411Gly) c.1090A>G (p.Ser364Gly) | gnomAD v4 |
| 12 | g.109798688T>G | CA386654280 | TRPV4 | c.1078A>C (p.Ser360Arg) c.*165A>C (n.*165A>C) n.1109A>C c.976A>C (p.Ser326Arg) c.937A>C (p.Ser313Arg) c.1231A>C (p.Ser411Arg) c.1090A>C (p.Ser364Arg) | |
| 12 | g.109798688T= | CA2062572902 | TRPV4 | c.1078A= (p.Ser360=) c.*165A= (n.*165A=) n.1109A= c.976A= (p.Ser326=) c.937A= (p.Ser313=) c.1231A= (p.Ser411=) c.1090A= (p.Ser364=) | |
| 12 | g.109798689G>A | CA481867301 | TRPV4 | c.1077C>T (p.Asp359=) c.*164C>T (n.*164C>T) n.1108C>T c.975C>T (p.Asp325=) c.936C>T (p.Asp312=) c.1230C>T (p.Asp410=) c.1089C>T (p.Asp363=) | gnomAD v4 |
| 12 | g.109798689G>C | CA386654283 | TRPV4 | c.1077C>G (p.Asp359Glu) c.*164C>G (n.*164C>G) n.1108C>G c.975C>G (p.Asp325Glu) c.936C>G (p.Asp312Glu) c.1230C>G (p.Asp410Glu) c.1089C>G (p.Asp363Glu) | |
| 12 | g.109798689G>T | CA386654285 | TRPV4 | c.1077C>A (p.Asp359Glu) c.*164C>A (n.*164C>A) n.1108C>A c.975C>A (p.Asp325Glu) c.936C>A (p.Asp312Glu) c.1230C>A (p.Asp410Glu) c.1089C>A (p.Asp363Glu) | |
| 12 | g.109798690T>A | CA386654286 | TRPV4 | c.1076A>T (p.Asp359Val) c.*163A>T (n.*163A>T) n.1107A>T c.974A>T (p.Asp325Val) c.935A>T (p.Asp312Val) c.1229A>T (p.Asp410Val) c.1088A>T (p.Asp363Val) | |
| 12 | g.109798690T>C | CA386654287 | TRPV4 | c.1076A>G (p.Asp359Gly) c.*163A>G (n.*163A>G) n.1107A>G c.974A>G (p.Asp325Gly) c.935A>G (p.Asp312Gly) c.1229A>G (p.Asp410Gly) c.1088A>G (p.Asp363Gly) | |
| 12 | g.109798690T>G | CA386654289 | TRPV4 | c.1076A>C (p.Asp359Ala) c.*163A>C (n.*163A>C) n.1107A>C c.974A>C (p.Asp325Ala) c.935A>C (p.Asp312Ala) c.1229A>C (p.Asp410Ala) c.1088A>C (p.Asp363Ala) | |
| 12 | g.109798691C>A | CA386654291 | TRPV4 | c.1075G>T (p.Asp359Tyr) c.*162G>T (n.*162G>T) n.1106G>T c.973G>T (p.Asp325Tyr) c.934G>T (p.Asp312Tyr) c.1228G>T (p.Asp410Tyr) c.1087G>T (p.Asp363Tyr) | gnomAD v4 |
| 12 | g.109798691C= | CA2062572911 | TRPV4 | c.1075G= (p.Asp359=) c.*162G= (n.*162G=) n.1106G= c.973G= (p.Asp325=) c.934G= (p.Asp312=) c.1228G= (p.Asp410=) c.1087G= (p.Asp363=) | |
| 12 | g.109798691C>G | CA386654293 | TRPV4 | c.1075G>C (p.Asp359His) c.*162G>C (n.*162G>C) n.1106G>C c.973G>C (p.Asp325His) c.934G>C (p.Asp312His) c.1228G>C (p.Asp410His) c.1087G>C (p.Asp363His) | dbSNP gnomAD v4 |
| 12 | g.109798691C>T | CA6780356 | TRPV4 | c.1075G>A (p.Asp359Asn) c.*162G>A (n.*162G>A) n.1106G>A c.973G>A (p.Asp325Asn) c.934G>A (p.Asp312Asn) c.1228G>A (p.Asp410Asn) c.1087G>A (p.Asp363Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798692G>A | CA6780357 | TRPV4 | c.1074C>T (p.Pro358=) c.*161C>T (n.*161C>T) n.1105C>T c.972C>T (p.Pro324=) c.933C>T (p.Pro311=) c.1227C>T (p.Pro409=) c.1086C>T (p.Pro362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798692G>C | CA6780358 | TRPV4 | c.1074C>G (p.Pro358=) c.*161C>G (n.*161C>G) n.1105C>G c.972C>G (p.Pro324=) c.933C>G (p.Pro311=) c.1227C>G (p.Pro409=) c.1086C>G (p.Pro362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109798692G= | CA2062572922 | TRPV4 | c.1074C= (p.Pro358=) c.*161C= (n.*161C=) n.1105C= c.972C= (p.Pro324=) c.933C= (p.Pro311=) c.1227C= (p.Pro409=) c.1086C= (p.Pro362=) | |
| 12 | g.109798692G>T | CA481867307 | TRPV4 | c.1074C>A (p.Pro358=) c.*161C>A (n.*161C>A) n.1105C>A c.972C>A (p.Pro324=) c.933C>A (p.Pro311=) c.1227C>A (p.Pro409=) c.1086C>A (p.Pro362=) | |
| 12 | g.109798693G>A | CA6780359 | TRPV4 | c.1073C>T (p.Pro358Leu) c.*160C>T (n.*160C>T) n.1104C>T c.971C>T (p.Pro324Leu) c.932C>T (p.Pro311Leu) c.1226C>T (p.Pro409Leu) c.1085C>T (p.Pro362Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798693G>C | CA386654297 | TRPV4 | c.1073C>G (p.Pro358Arg) c.*160C>G (n.*160C>G) n.1104C>G c.971C>G (p.Pro324Arg) c.932C>G (p.Pro311Arg) c.1226C>G (p.Pro409Arg) c.1085C>G (p.Pro362Arg) | |
| 12 | g.109798693G= | CA2062572929 | TRPV4 | c.1073C= (p.Pro358=) c.*160C= (n.*160C=) n.1104C= c.971C= (p.Pro324=) c.932C= (p.Pro311=) c.1226C= (p.Pro409=) c.1085C= (p.Pro362=) | |
| 12 | g.109798693G>T | CA386654299 | TRPV4 | c.1073C>A (p.Pro358His) c.*160C>A (n.*160C>A) n.1104C>A c.971C>A (p.Pro324His) c.932C>A (p.Pro311His) c.1226C>A (p.Pro409His) c.1085C>A (p.Pro362His) | |
| 12 | g.109798694G>A | CA6780360 | TRPV4 | c.1072C>T (p.Pro358Ser) c.*159C>T (n.*159C>T) n.1103C>T c.970C>T (p.Pro324Ser) c.931C>T (p.Pro311Ser) c.1225C>T (p.Pro409Ser) c.1084C>T (p.Pro362Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109798694G>C | CA386654301 | TRPV4 | c.1072C>G (p.Pro358Ala) c.*159C>G (n.*159C>G) n.1103C>G c.970C>G (p.Pro324Ala) c.931C>G (p.Pro311Ala) c.1225C>G (p.Pro409Ala) c.1084C>G (p.Pro362Ala) | |
| 12 | g.109798694G= | CA2062572933 | TRPV4 | c.1072C= (p.Pro358=) c.*159C= (n.*159C=) n.1103C= c.970C= (p.Pro324=) c.931C= (p.Pro311=) c.1225C= (p.Pro409=) c.1084C= (p.Pro362=) | |
| 12 | g.109798694G>T | CA386654303 | TRPV4 | c.1072C>A (p.Pro358Thr) c.*159C>A (n.*159C>A) n.1103C>A c.970C>A (p.Pro324Thr) c.931C>A (p.Pro311Thr) c.1225C>A (p.Pro409Thr) c.1084C>A (p.Pro362Thr) | |
| 12 | g.109798694_109798695delinsAA | CA645585868 | TRPV4 | c.1071_1072delinsTT (p.Pro358Ser) c.*158_*159delinsTT (n.*158_*159delinsTT) n.1102_1103delinsTT c.969_970delinsTT (p.Pro324Ser) c.930_931delinsTT (p.Pro311Ser) c.1224_1225delinsTT (p.Pro409Ser) c.1083_1084delinsTT (p.Pro362Ser) | COSMIC |
| 12 | g.109798695G>A | CA481867309 | TRPV4 | c.1071C>T (p.Phe357=) c.*158C>T (n.*158C>T) n.1102C>T c.969C>T (p.Phe323=) c.930C>T (p.Phe310=) c.1224C>T (p.Phe408=) c.1083C>T (p.Phe361=) | |
| 12 | g.109798695G>C | CA386654305 | TRPV4 | c.1071C>G (p.Phe357Leu) c.*158C>G (n.*158C>G) n.1102C>G c.969C>G (p.Phe323Leu) c.930C>G (p.Phe310Leu) c.1224C>G (p.Phe408Leu) c.1083C>G (p.Phe361Leu) | |
| 12 | g.109798695G>T | CA386654306 | TRPV4 | c.1071C>A (p.Phe357Leu) c.*158C>A (n.*158C>A) n.1102C>A c.969C>A (p.Phe323Leu) c.930C>A (p.Phe310Leu) c.1224C>A (p.Phe408Leu) c.1083C>A (p.Phe361Leu) | |
| 12 | g.109798696A>C | CA386654307 | TRPV4 | c.1070T>G (p.Phe357Cys) c.*157T>G (n.*157T>G) n.1101T>G c.968T>G (p.Phe323Cys) c.929T>G (p.Phe310Cys) c.1223T>G (p.Phe408Cys) c.1082T>G (p.Phe361Cys) | |
| 12 | g.109798696A>G | CA386654309 | TRPV4 | c.1070T>C (p.Phe357Ser) c.*157T>C (n.*157T>C) n.1101T>C c.968T>C (p.Phe323Ser) c.929T>C (p.Phe310Ser) c.1223T>C (p.Phe408Ser) c.1082T>C (p.Phe361Ser) | |
| 12 | g.109798696A>T | CA386654310 | TRPV4 | c.1070T>A (p.Phe357Tyr) c.*157T>A (n.*157T>A) n.1101T>A c.968T>A (p.Phe323Tyr) c.929T>A (p.Phe310Tyr) c.1223T>A (p.Phe408Tyr) c.1082T>A (p.Phe361Tyr) | |
| 12 | g.109798697A>C | CA386654316 | TRPV4 | c.1069T>G (p.Phe357Val) c.*156T>G (n.*156T>G) n.1100T>G c.967T>G (p.Phe323Val) c.928T>G (p.Phe310Val) c.1222T>G (p.Phe408Val) c.1081T>G (p.Phe361Val) | |
| 12 | g.109798697A>G | CA386654314 | TRPV4 | c.1069T>C (p.Phe357Leu) c.*156T>C (n.*156T>C) n.1100T>C c.967T>C (p.Phe323Leu) c.928T>C (p.Phe310Leu) c.1222T>C (p.Phe408Leu) c.1081T>C (p.Phe361Leu) | |
| 12 | g.109798697A>T | CA386654312 | TRPV4 | c.1069T>A (p.Phe357Ile) c.*156T>A (n.*156T>A) n.1100T>A c.967T>A (p.Phe323Ile) c.928T>A (p.Phe310Ile) c.1222T>A (p.Phe408Ile) c.1081T>A (p.Phe361Ile) | |
| 12 | g.109798698G>A | CA481867314 | TRPV4 | c.1068C>T (p.Leu356=) c.*155C>T (n.*155C>T) n.1099C>T c.966C>T (p.Leu322=) c.927C>T (p.Leu309=) c.1221C>T (p.Leu407=) c.1080C>T (p.Leu360=) | gnomAD v4 |
| 12 | g.109798698G>C | CA481867315 | TRPV4 | c.1068C>G (p.Leu356=) c.*155C>G (n.*155C>G) n.1099C>G c.966C>G (p.Leu322=) c.927C>G (p.Leu309=) c.1221C>G (p.Leu407=) c.1080C>G (p.Leu360=) | |
| 12 | g.109798698G>T | CA481867317 | TRPV4 | c.1068C>A (p.Leu356=) c.*155C>A (n.*155C>A) n.1099C>A c.966C>A (p.Leu322=) c.927C>A (p.Leu309=) c.1221C>A (p.Leu407=) c.1080C>A (p.Leu360=) | |
| 12 | g.109798699A>C | CA386654318 | TRPV4 | c.1067T>G (p.Leu356Arg) c.*154T>G (n.*154T>G) n.1098T>G c.965T>G (p.Leu322Arg) c.926T>G (p.Leu309Arg) c.1220T>G (p.Leu407Arg) c.1079T>G (p.Leu360Arg) | |
| 12 | g.109798699A>G | CA386654321 | TRPV4 | c.1067T>C (p.Leu356Pro) c.*154T>C (n.*154T>C) n.1098T>C c.965T>C (p.Leu322Pro) c.926T>C (p.Leu309Pro) c.1220T>C (p.Leu407Pro) c.1079T>C (p.Leu360Pro) | |
| 12 | g.109798699A>T | CA386654319 | TRPV4 | c.1067T>A (p.Leu356His) c.*154T>A (n.*154T>A) n.1098T>A c.965T>A (p.Leu322His) c.926T>A (p.Leu309His) c.1220T>A (p.Leu407His) c.1079T>A (p.Leu360His) | |
| 12 | g.109798700G>A | CA386654323 | TRPV4 | c.1066C>T (p.Leu356Phe) c.*153C>T (n.*153C>T) n.1097C>T c.964C>T (p.Leu322Phe) c.925C>T (p.Leu309Phe) c.1219C>T (p.Leu407Phe) c.1078C>T (p.Leu360Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798700G>C | CA386654324 | TRPV4 | c.1066C>G (p.Leu356Val) c.*153C>G (n.*153C>G) n.1097C>G c.964C>G (p.Leu322Val) c.925C>G (p.Leu309Val) c.1219C>G (p.Leu407Val) c.1078C>G (p.Leu360Val) | |
| 12 | g.109798700G= | CA2062572935 | TRPV4 | c.1066C= (p.Leu356=) c.*153C= (n.*153C=) n.1097C= c.964C= (p.Leu322=) c.925C= (p.Leu309=) c.1219C= (p.Leu407=) c.1078C= (p.Leu360=) | |
| 12 | g.109798700G>T | CA386654326 | TRPV4 | c.1066C>A (p.Leu356Ile) c.*153C>A (n.*153C>A) n.1097C>A c.964C>A (p.Leu322Ile) c.925C>A (p.Leu309Ile) c.1219C>A (p.Leu407Ile) c.1078C>A (p.Leu360Ile) | |
| 12 | g.109798700_109798701insCTTG | CA2532575891 | TRPV4 | c.1066_1067insAAGC (p.Leu356GlnfsTer?) c.*153_*154insAAGC (n.*153_*154insAAGC) n.1097_1098insAAGC c.964_965insAAGC (p.Leu322GlnfsTer?) c.925_926insAAGC (p.Leu309GlnfsTer?) c.1219_1220insAAGC (p.Leu407GlnfsTer?) c.1078_1079insAAGC (p.Leu360GlnfsTer?) | |
| 12 | g.109798700_109798701insTTTG | CA2522129689 | TRPV4 | c.1066_1067insAAAC (p.Leu356GlnfsTer?) c.*153_*154insAAAC (n.*153_*154insAAAC) n.1097_1098insAAAC c.964_965insAAAC (p.Leu322GlnfsTer?) c.925_926insAAAC (p.Leu309GlnfsTer?) c.1219_1220insAAAC (p.Leu407GlnfsTer?) c.1078_1079insAAAC (p.Leu360GlnfsTer?) | |
| 12 | g.109798701G>A | CA481867319 | TRPV4 | c.1065C>T (p.Arg355=) c.*152C>T (n.*152C>T) n.1096C>T c.963C>T (p.Arg321=) c.924C>T (p.Arg308=) c.1218C>T (p.Arg406=) c.1077C>T (p.Arg359=) | |
| 12 | g.109798701G>C | CA481867322 | TRPV4 | c.1065C>G (p.Arg355=) c.*152C>G (n.*152C>G) n.1096C>G c.963C>G (p.Arg321=) c.924C>G (p.Arg308=) c.1218C>G (p.Arg406=) c.1077C>G (p.Arg359=) | |
| 12 | g.109798701G>T | CA481867320 | TRPV4 | c.1065C>A (p.Arg355=) c.*152C>A (n.*152C>A) n.1096C>A c.963C>A (p.Arg321=) c.924C>A (p.Arg308=) c.1218C>A (p.Arg406=) c.1077C>A (p.Arg359=) | |
| 12 | g.109798702C>A | CA243467575 | TRPV4 | c.1064G>T (p.Arg355Leu) c.*151G>T (n.*151G>T) n.1095G>T c.962G>T (p.Arg321Leu) c.923G>T (p.Arg308Leu) c.1217G>T (p.Arg406Leu) c.1076G>T (p.Arg359Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109798702C= | CA2062572939 | TRPV4 | c.1064G= (p.Arg355=) c.*151G= (n.*151G=) n.1095G= c.962G= (p.Arg321=) c.923G= (p.Arg308=) c.1217G= (p.Arg406=) c.1076G= (p.Arg359=) | |
| 12 | g.109798702C>G | CA386654329 | TRPV4 | c.1064G>C (p.Arg355Pro) c.*151G>C (n.*151G>C) n.1095G>C c.962G>C (p.Arg321Pro) c.923G>C (p.Arg308Pro) c.1217G>C (p.Arg406Pro) c.1076G>C (p.Arg359Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798702C>T | CA6780361 | TRPV4 | c.1064G>A (p.Arg355His) c.*151G>A (n.*151G>A) n.1095G>A c.962G>A (p.Arg321His) c.923G>A (p.Arg308His) c.1217G>A (p.Arg406His) c.1076G>A (p.Arg359His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798703G>A | CA6780362 | TRPV4 | c.1063C>T (p.Arg355Cys) c.*150C>T (n.*150C>T) n.1094C>T c.961C>T (p.Arg321Cys) c.922C>T (p.Arg308Cys) c.1216C>T (p.Arg406Cys) c.1075C>T (p.Arg359Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798703G>C | CA386654332 | TRPV4 | c.1063C>G (p.Arg355Gly) c.*150C>G (n.*150C>G) n.1094C>G c.961C>G (p.Arg321Gly) c.922C>G (p.Arg308Gly) c.1216C>G (p.Arg406Gly) c.1075C>G (p.Arg359Gly) | |
| 12 | g.109798703G= | CA2062572945 | TRPV4 | c.1063C= (p.Arg355=) c.*150C= (n.*150C=) n.1094C= c.961C= (p.Arg321=) c.922C= (p.Arg308=) c.1216C= (p.Arg406=) c.1075C= (p.Arg359=) | |
| 12 | g.109798703G>T | CA386654334 | TRPV4 | c.1063C>A (p.Arg355Ser) c.*150C>A (n.*150C>A) n.1094C>A c.961C>A (p.Arg321Ser) c.922C>A (p.Arg308Ser) c.1216C>A (p.Arg406Ser) c.1075C>A (p.Arg359Ser) | COSMIC |
| 12 | g.109798704G>A | CA6780363 | TRPV4 | c.1062C>T (p.Ala354=) c.*149C>T (n.*149C>T) n.1093C>T c.960C>T (p.Ala320=) c.921C>T (p.Ala307=) c.1215C>T (p.Ala405=) c.1074C>T (p.Ala358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798704G>C | CA481867326 | TRPV4 | c.1062C>G (p.Ala354=) c.*149C>G (n.*149C>G) n.1093C>G c.960C>G (p.Ala320=) c.921C>G (p.Ala307=) c.1215C>G (p.Ala405=) c.1074C>G (p.Ala358=) | |
| 12 | g.109798704G= | CA2062572950 | TRPV4 | c.1062C= (p.Ala354=) c.*149C= (n.*149C=) n.1093C= c.960C= (p.Ala320=) c.921C= (p.Ala307=) c.1215C= (p.Ala405=) c.1074C= (p.Ala358=) | |
| 12 | g.109798704G>T | CA481867327 | TRPV4 | c.1062C>A (p.Ala354=) c.*149C>A (n.*149C>A) n.1093C>A c.960C>A (p.Ala320=) c.921C>A (p.Ala307=) c.1215C>A (p.Ala405=) c.1074C>A (p.Ala358=) | |
| 12 | g.109798704_109798707del | CA2557100832 | TRPV4 | c.1059_1062del (p.Arg355SerfsTer20) c.*146_*149del (n.*146_*149del) n.1090_1093del c.957_960del (p.Arg321SerfsTer20) c.918_921del (p.Arg308SerfsTer20) c.1212_1215del (p.Arg406SerfsTer20) c.1071_1074del (p.Arg359SerfsTer20) | |
| 12 | g.109798705G>A | CA386654337 | TRPV4 | c.1061C>T (p.Ala354Val) c.*148C>T (n.*148C>T) n.1092C>T c.959C>T (p.Ala320Val) c.920C>T (p.Ala307Val) c.1214C>T (p.Ala405Val) c.1073C>T (p.Ala358Val) | gnomAD v4 COSMIC |
| 12 | g.109798705G>C | CA386654338 | TRPV4 | c.1061C>G (p.Ala354Gly) c.*148C>G (n.*148C>G) n.1092C>G c.959C>G (p.Ala320Gly) c.920C>G (p.Ala307Gly) c.1214C>G (p.Ala405Gly) c.1073C>G (p.Ala358Gly) | |
| 12 | g.109798705G>T | CA386654340 | TRPV4 | c.1061C>A (p.Ala354Asp) c.*148C>A (n.*148C>A) n.1092C>A c.959C>A (p.Ala320Asp) c.920C>A (p.Ala307Asp) c.1214C>A (p.Ala405Asp) c.1073C>A (p.Ala358Asp) | |
| 12 | g.109798706C>A | CA386654343 | TRPV4 | c.1060G>T (p.Ala354Ser) c.*147G>T (n.*147G>T) n.1091G>T c.958G>T (p.Ala320Ser) c.919G>T (p.Ala307Ser) c.1213G>T (p.Ala405Ser) c.1072G>T (p.Ala358Ser) | |
| 12 | g.109798706C= | CA2062572952 | TRPV4 | c.1060G= (p.Ala354=) c.*147G= (n.*147G=) n.1091G= c.958G= (p.Ala320=) c.919G= (p.Ala307=) c.1213G= (p.Ala405=) c.1072G= (p.Ala358=) | |
| 12 | g.109798706C>G | CA243467607 | TRPV4 | c.1060G>C (p.Ala354Pro) c.*147G>C (n.*147G>C) n.1091G>C c.958G>C (p.Ala320Pro) c.919G>C (p.Ala307Pro) c.1213G>C (p.Ala405Pro) c.1072G>C (p.Ala358Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798706C>T | CA386654344 | TRPV4 | c.1060G>A (p.Ala354Thr) c.*147G>A (n.*147G>A) n.1091G>A c.958G>A (p.Ala320Thr) c.919G>A (p.Ala307Thr) c.1213G>A (p.Ala405Thr) c.1072G>A (p.Ala358Thr) | |
| 12 | g.109798707A>C | CA386654347 | TRPV4 | c.1059T>G (p.Cys353Trp) c.*146T>G (n.*146T>G) n.1090T>G c.957T>G (p.Cys319Trp) c.918T>G (p.Cys306Trp) c.1212T>G (p.Cys404Trp) c.1071T>G (p.Cys357Trp) | |
| 12 | g.109798707A>G | CA481867329 | TRPV4 | c.1059T>C (p.Cys353=) c.*146T>C (n.*146T>C) n.1090T>C c.957T>C (p.Cys319=) c.918T>C (p.Cys306=) c.1212T>C (p.Cys404=) c.1071T>C (p.Cys357=) | |
| 12 | g.109798707A>T | CA386654349 | TRPV4 | c.1059T>A (p.Cys353Ter) c.*146T>A (n.*146T>A) n.1090T>A c.957T>A (p.Cys319Ter) c.918T>A (p.Cys306Ter) c.1212T>A (p.Cys404Ter) c.1071T>A (p.Cys357Ter) | |
| 12 | g.109798708C>A | CA243467609 | TRPV4 | c.1058G>T (p.Cys353Phe) c.*145G>T (n.*145G>T) n.1089G>T c.956G>T (p.Cys319Phe) c.917G>T (p.Cys306Phe) c.1211G>T (p.Cys404Phe) c.1070G>T (p.Cys357Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798708C= | CA2062572956 | TRPV4 | c.1058G= (p.Cys353=) c.*145G= (n.*145G=) n.1089G= c.956G= (p.Cys319=) c.917G= (p.Cys306=) c.1211G= (p.Cys404=) c.1070G= (p.Cys357=) | |
| 12 | g.109798708C>G | CA386654350 | TRPV4 | c.1058G>C (p.Cys353Ser) c.*145G>C (n.*145G>C) n.1089G>C c.956G>C (p.Cys319Ser) c.917G>C (p.Cys306Ser) c.1211G>C (p.Cys404Ser) c.1070G>C (p.Cys357Ser) | |
| 12 | g.109798708C>T | CA386654351 | TRPV4 | c.1058G>A (p.Cys353Tyr) c.*145G>A (n.*145G>A) n.1089G>A c.956G>A (p.Cys319Tyr) c.917G>A (p.Cys306Tyr) c.1211G>A (p.Cys404Tyr) c.1070G>A (p.Cys357Tyr) | ClinVar |
| 12 | g.109798709A>C | CA386654352 | TRPV4 | c.1057T>G (p.Cys353Gly) c.*144T>G (n.*144T>G) n.1088T>G c.955T>G (p.Cys319Gly) c.916T>G (p.Cys306Gly) c.1210T>G (p.Cys404Gly) c.1069T>G (p.Cys357Gly) | |
| 12 | g.109798709A>G | CA386654354 | TRPV4 | c.1057T>C (p.Cys353Arg) c.*144T>C (n.*144T>C) n.1088T>C c.955T>C (p.Cys319Arg) c.916T>C (p.Cys306Arg) c.1210T>C (p.Cys404Arg) c.1069T>C (p.Cys357Arg) | |
| 12 | g.109798709A>T | CA386654356 | TRPV4 | c.1057T>A (p.Cys353Ser) c.*144T>A (n.*144T>A) n.1088T>A c.955T>A (p.Cys319Ser) c.916T>A (p.Cys306Ser) c.1210T>A (p.Cys404Ser) c.1069T>A (p.Cys357Ser) | |
| 12 | g.109798710C>A | CA243467616 | TRPV4 | c.1056G>T (p.Lys352Asn) c.*143G>T (n.*143G>T) n.1087G>T c.954G>T (p.Lys318Asn) c.915G>T (p.Lys305Asn) c.1209G>T (p.Lys403Asn) c.1068G>T (p.Lys356Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798710C= | CA2062572960 | TRPV4 | c.1056G= (p.Lys352=) c.*143G= (n.*143G=) n.1087G= c.954G= (p.Lys318=) c.915G= (p.Lys305=) c.1209G= (p.Lys403=) c.1068G= (p.Lys356=) | |
| 12 | g.109798710C>G | CA386654358 | TRPV4 | c.1056G>C (p.Lys352Asn) c.*143G>C (n.*143G>C) n.1087G>C c.954G>C (p.Lys318Asn) c.915G>C (p.Lys305Asn) c.1209G>C (p.Lys403Asn) c.1068G>C (p.Lys356Asn) | |
| 12 | g.109798710C>T | CA481867333 | TRPV4 | c.1056G>A (p.Lys352=) c.*143G>A (n.*143G>A) n.1087G>A c.954G>A (p.Lys318=) c.915G>A (p.Lys305=) c.1209G>A (p.Lys403=) c.1068G>A (p.Lys356=) | |
| 12 | g.109798710_109798711insAGGGGAAAA | CA2695217257 | TRPV4 | c.1055_1056insTTTTCCCCT (p.Lys352delinsAsnPheProLeu) c.*142_*143insTTTTCCCCT (n.*142_*143insTTTTCCCCT) n.1086_1087insTTTTCCCCT c.953_954insTTTTCCCCT (p.Lys318delinsAsnPheProLeu) c.914_915insTTTTCCCCT (p.Lys305delinsAsnPheProLeu) c.1208_1209insTTTTCCCCT (p.Lys403delinsAsnPheProLeu) c.1067_1068insTTTTCCCCT (p.Lys356delinsAsnPheProLeu) | |
| 12 | g.109798711T>A | CA386654364 | TRPV4 | c.1055A>T (p.Lys352Met) c.*142A>T (n.*142A>T) n.1086A>T c.953A>T (p.Lys318Met) c.914A>T (p.Lys305Met) c.1208A>T (p.Lys403Met) c.1067A>T (p.Lys356Met) | |
| 12 | g.109798711T>C | CA386654362 | TRPV4 | c.1055A>G (p.Lys352Arg) c.*142A>G (n.*142A>G) n.1086A>G c.953A>G (p.Lys318Arg) c.914A>G (p.Lys305Arg) c.1208A>G (p.Lys403Arg) c.1067A>G (p.Lys356Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109798711T>G | CA386654360 | TRPV4 | c.1055A>C (p.Lys352Thr) c.*142A>C (n.*142A>C) n.1086A>C c.953A>C (p.Lys318Thr) c.914A>C (p.Lys305Thr) c.1208A>C (p.Lys403Thr) c.1067A>C (p.Lys356Thr) | |
| 12 | g.109798711T= | CA2062572962 | TRPV4 | c.1055A= (p.Lys352=) c.*142A= (n.*142A=) n.1086A= c.953A= (p.Lys318=) c.914A= (p.Lys305=) c.1208A= (p.Lys403=) c.1067A= (p.Lys356=) | |
| 12 | g.109798712T>A | CA386654366 | TRPV4 | c.1054A>T (p.Lys352Ter) c.*141A>T (n.*141A>T) n.1085A>T c.952A>T (p.Lys318Ter) c.913A>T (p.Lys305Ter) c.1207A>T (p.Lys403Ter) c.1066A>T (p.Lys356Ter) | |
| 12 | g.109798712T>C | CA386654368 | TRPV4 | c.1054A>G (p.Lys352Glu) c.*141A>G (n.*141A>G) n.1085A>G c.952A>G (p.Lys318Glu) c.913A>G (p.Lys305Glu) c.1207A>G (p.Lys403Glu) c.1066A>G (p.Lys356Glu) | |
| 12 | g.109798712T>G | CA386654369 | TRPV4 | c.1054A>C (p.Lys352Gln) c.*141A>C (n.*141A>C) n.1085A>C c.952A>C (p.Lys318Gln) c.913A>C (p.Lys305Gln) c.1207A>C (p.Lys403Gln) c.1066A>C (p.Lys356Gln) | |
| 12 | g.109798713G>A | CA481867336 | TRPV4 | c.1053C>T (p.Leu351=) c.*140C>T (n.*140C>T) n.1084C>T c.951C>T (p.Leu317=) c.912C>T (p.Leu304=) c.1206C>T (p.Leu402=) c.1065C>T (p.Leu355=) | |
| 12 | g.109798713G>C | CA481867339 | TRPV4 | c.1053C>G (p.Leu351=) c.*140C>G (n.*140C>G) n.1084C>G c.951C>G (p.Leu317=) c.912C>G (p.Leu304=) c.1206C>G (p.Leu402=) c.1065C>G (p.Leu355=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798713G= | CA2062572963 | TRPV4 | c.1053C= (p.Leu351=) c.*140C= (n.*140C=) n.1084C= c.951C= (p.Leu317=) c.912C= (p.Leu304=) c.1206C= (p.Leu402=) c.1065C= (p.Leu355=) | |
| 12 | g.109798713G>T | CA481867337 | TRPV4 | c.1053C>A (p.Leu351=) c.*140C>A (n.*140C>A) n.1084C>A c.951C>A (p.Leu317=) c.912C>A (p.Leu304=) c.1206C>A (p.Leu402=) c.1065C>A (p.Leu355=) | |
| 12 | g.109798714A>C | CA386654371 | TRPV4 | c.1052T>G (p.Leu351Arg) c.*139T>G (n.*139T>G) n.1083T>G c.950T>G (p.Leu317Arg) c.911T>G (p.Leu304Arg) c.1205T>G (p.Leu402Arg) c.1064T>G (p.Leu355Arg) | |
| 12 | g.109798714A>G | CA386654373 | TRPV4 | c.1052T>C (p.Leu351Pro) c.*139T>C (n.*139T>C) n.1083T>C c.950T>C (p.Leu317Pro) c.911T>C (p.Leu304Pro) c.1205T>C (p.Leu402Pro) c.1064T>C (p.Leu355Pro) | gnomAD v4 |
| 12 | g.109798714A>T | CA386654374 | TRPV4 | c.1052T>A (p.Leu351His) c.*139T>A (n.*139T>A) n.1083T>A c.950T>A (p.Leu317His) c.911T>A (p.Leu304His) c.1205T>A (p.Leu402His) c.1064T>A (p.Leu355His) | |
| 12 | g.109798715G>A | CA386654375 | TRPV4 | c.1051C>T (p.Leu351Phe) c.*138C>T (n.*138C>T) n.1082C>T c.949C>T (p.Leu317Phe) c.910C>T (p.Leu304Phe) c.1204C>T (p.Leu402Phe) c.1063C>T (p.Leu355Phe) | dbSNP |
| 12 | g.109798715G>C | CA386654377 | TRPV4 | c.1051C>G (p.Leu351Val) c.*138C>G (n.*138C>G) n.1082C>G c.949C>G (p.Leu317Val) c.910C>G (p.Leu304Val) c.1204C>G (p.Leu402Val) c.1063C>G (p.Leu355Val) | |
| 12 | g.109798715G= | CA2062572966 | TRPV4 | c.1051C= (p.Leu351=) c.*138C= (n.*138C=) n.1082C= c.949C= (p.Leu317=) c.910C= (p.Leu304=) c.1204C= (p.Leu402=) c.1063C= (p.Leu355=) | |
| 12 | g.109798715G>T | CA386654378 | TRPV4 | c.1051C>A (p.Leu351Ile) c.*138C>A (n.*138C>A) n.1082C>A c.949C>A (p.Leu317Ile) c.910C>A (p.Leu304Ile) c.1204C>A (p.Leu402Ile) c.1063C>A (p.Leu355Ile) | |
| 12 | g.109798716C>A | CA481867341 | TRPV4 | c.1050G>T (p.Leu350=) c.*137G>T (n.*137G>T) n.1081G>T c.948G>T (p.Leu316=) c.909G>T (p.Leu303=) c.1203G>T (p.Leu401=) c.1062G>T (p.Leu354=) | |
| 12 | g.109798716C= | CA2062572969 | TRPV4 | c.1050G= (p.Leu350=) c.*137G= (n.*137G=) n.1081G= c.948G= (p.Leu316=) c.909G= (p.Leu303=) c.1203G= (p.Leu401=) c.1062G= (p.Leu354=) | |
| 12 | g.109798716C>G | CA481867343 | TRPV4 | c.1050G>C (p.Leu350=) c.*137G>C (n.*137G>C) n.1081G>C c.948G>C (p.Leu316=) c.909G>C (p.Leu303=) c.1203G>C (p.Leu401=) c.1062G>C (p.Leu354=) | |
| 12 | g.109798716C>T | CA6780364 | TRPV4 | c.1050G>A (p.Leu350=) c.*137G>A (n.*137G>A) n.1081G>A c.948G>A (p.Leu316=) c.909G>A (p.Leu303=) c.1203G>A (p.Leu401=) c.1062G>A (p.Leu354=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109798717A>C | CA386654381 | TRPV4 | c.1049T>G (p.Leu350Arg) c.*136T>G (n.*136T>G) n.1080T>G c.947T>G (p.Leu316Arg) c.908T>G (p.Leu303Arg) c.1202T>G (p.Leu401Arg) c.1061T>G (p.Leu354Arg) | |
| 12 | g.109798717A>G | CA386654382 | TRPV4 | c.1049T>C (p.Leu350Pro) c.*136T>C (n.*136T>C) n.1080T>C c.947T>C (p.Leu316Pro) c.908T>C (p.Leu303Pro) c.1202T>C (p.Leu401Pro) c.1061T>C (p.Leu354Pro) | |
| 12 | g.109798717A>T | CA386654384 | TRPV4 | c.1049T>A (p.Leu350Gln) c.*136T>A (n.*136T>A) n.1080T>A c.947T>A (p.Leu316Gln) c.908T>A (p.Leu303Gln) c.1202T>A (p.Leu401Gln) c.1061T>A (p.Leu354Gln) | gnomAD v4 |
| 12 | g.109798718G>A | CA481867345 | TRPV4 | c.1048C>T (p.Leu350=) c.*135C>T (n.*135C>T) n.1079C>T c.946C>T (p.Leu316=) c.907C>T (p.Leu303=) c.1201C>T (p.Leu401=) c.1060C>T (p.Leu354=) | gnomAD v4 |
| 12 | g.109798718G>C | CA386654386 | TRPV4 | c.1048C>G (p.Leu350Val) c.*135C>G (n.*135C>G) n.1079C>G c.946C>G (p.Leu316Val) c.907C>G (p.Leu303Val) c.1201C>G (p.Leu401Val) c.1060C>G (p.Leu354Val) | |
| 12 | g.109798718G>T | CA386654385 | TRPV4 | c.1048C>A (p.Leu350Met) c.*135C>A (n.*135C>A) n.1079C>A c.946C>A (p.Leu316Met) c.907C>A (p.Leu303Met) c.1201C>A (p.Leu401Met) c.1060C>A (p.Leu354Met) | |
| 12 | g.109798719C>A | CA481867346 | TRPV4 | c.1047G>T (p.Leu349=) c.*134G>T (n.*134G>T) n.1078G>T c.945G>T (p.Leu315=) c.906G>T (p.Leu302=) c.1200G>T (p.Leu400=) c.1059G>T (p.Leu353=) | |
| 12 | g.109798719C>G | CA481867347 | TRPV4 | c.1047G>C (p.Leu349=) c.*134G>C (n.*134G>C) n.1078G>C c.945G>C (p.Leu315=) c.906G>C (p.Leu302=) c.1200G>C (p.Leu400=) c.1059G>C (p.Leu353=) | |
| 12 | g.109798719C>T | CA481867348 | TRPV4 | c.1047G>A (p.Leu349=) c.*134G>A (n.*134G>A) n.1078G>A c.945G>A (p.Leu315=) c.906G>A (p.Leu302=) c.1200G>A (p.Leu400=) c.1059G>A (p.Leu353=) | |
| 12 | g.109798720A>C | CA386654388 | TRPV4 | c.1046T>G (p.Leu349Arg) c.*133T>G (n.*133T>G) n.1077T>G c.944T>G (p.Leu315Arg) c.905T>G (p.Leu302Arg) c.1199T>G (p.Leu400Arg) c.1058T>G (p.Leu353Arg) | |
| 12 | g.109798720A>G | CA386654389 | TRPV4 | c.1046T>C (p.Leu349Pro) c.*133T>C (n.*133T>C) n.1077T>C c.944T>C (p.Leu315Pro) c.905T>C (p.Leu302Pro) c.1199T>C (p.Leu400Pro) c.1058T>C (p.Leu353Pro) | |
| 12 | g.109798720A>T | CA386654390 | TRPV4 | c.1046T>A (p.Leu349Gln) c.*133T>A (n.*133T>A) n.1077T>A c.944T>A (p.Leu315Gln) c.905T>A (p.Leu302Gln) c.1199T>A (p.Leu400Gln) c.1058T>A (p.Leu353Gln) | gnomAD v4 |
| 12 | g.109798721G>A | CA481867352 | TRPV4 | c.1045C>T (p.Leu349=) c.*132C>T (n.*132C>T) n.1076C>T c.943C>T (p.Leu315=) c.904C>T (p.Leu302=) c.1198C>T (p.Leu400=) c.1057C>T (p.Leu353=) | |
| 12 | g.109798721G>C | CA386654391 | TRPV4 | c.1045C>G (p.Leu349Val) c.*132C>G (n.*132C>G) n.1076C>G c.943C>G (p.Leu315Val) c.904C>G (p.Leu302Val) c.1198C>G (p.Leu400Val) c.1057C>G (p.Leu353Val) | |
| 12 | g.109798721G>T | CA386654393 | TRPV4 | c.1045C>A (p.Leu349Met) c.*132C>A (n.*132C>A) n.1076C>A c.943C>A (p.Leu315Met) c.904C>A (p.Leu302Met) c.1198C>A (p.Leu400Met) c.1057C>A (p.Leu353Met) | |
| 12 | g.109798722C>A | CA481867358 | TRPV4 | c.1044G>T (p.Leu348=) c.*131G>T (n.*131G>T) n.1075G>T c.942G>T (p.Leu314=) c.903G>T (p.Leu301=) c.1197G>T (p.Leu399=) c.1056G>T (p.Leu352=) | |
| 12 | g.109798722C>G | CA481867356 | TRPV4 | c.1044G>C (p.Leu348=) c.*131G>C (n.*131G>C) n.1075G>C c.942G>C (p.Leu314=) c.903G>C (p.Leu301=) c.1197G>C (p.Leu399=) c.1056G>C (p.Leu352=) | |
| 12 | g.109798722C>T | CA481867354 | TRPV4 | c.1044G>A (p.Leu348=) c.*131G>A (n.*131G>A) n.1075G>A c.942G>A (p.Leu314=) c.903G>A (p.Leu301=) c.1197G>A (p.Leu399=) c.1056G>A (p.Leu352=) | |
| 12 | g.109798723A>C | CA386654394 | TRPV4 | c.1043T>G (p.Leu348Arg) c.*130T>G (n.*130T>G) n.1074T>G c.941T>G (p.Leu314Arg) c.902T>G (p.Leu301Arg) c.1196T>G (p.Leu399Arg) c.1055T>G (p.Leu352Arg) | |
| 12 | g.109798723A>G | CA386654395 | TRPV4 | c.1043T>C (p.Leu348Pro) c.*130T>C (n.*130T>C) n.1074T>C c.941T>C (p.Leu314Pro) c.902T>C (p.Leu301Pro) c.1196T>C (p.Leu399Pro) c.1055T>C (p.Leu352Pro) | |
| 12 | g.109798723A>T | CA386654396 | TRPV4 | c.1043T>A (p.Leu348Gln) c.*130T>A (n.*130T>A) n.1074T>A c.941T>A (p.Leu314Gln) c.902T>A (p.Leu301Gln) c.1196T>A (p.Leu399Gln) c.1055T>A (p.Leu352Gln) | |
| 12 | g.109798724G>A | CA481867361 | TRPV4 | c.1042C>T (p.Leu348=) c.*129C>T (n.*129C>T) n.1073C>T c.940C>T (p.Leu314=) c.901C>T (p.Leu301=) c.1195C>T (p.Leu399=) c.1054C>T (p.Leu352=) | |
| 12 | g.109798724G>C | CA386654398 | TRPV4 | c.1042C>G (p.Leu348Val) c.*129C>G (n.*129C>G) n.1073C>G c.940C>G (p.Leu314Val) c.901C>G (p.Leu301Val) c.1195C>G (p.Leu399Val) c.1054C>G (p.Leu352Val) | |
| 12 | g.109798724G>T | CA386654399 | TRPV4 | c.1042C>A (p.Leu348Met) c.*129C>A (n.*129C>A) n.1073C>A c.940C>A (p.Leu314Met) c.901C>A (p.Leu301Met) c.1195C>A (p.Leu399Met) c.1054C>A (p.Leu352Met) | |
| 12 | g.109798725G>A | CA481867363 | TRPV4 | c.1041C>T (p.Asp347=) c.*128C>T (n.*128C>T) n.1072C>T c.939C>T (p.Asp313=) c.900C>T (p.Asp300=) c.1194C>T (p.Asp398=) c.1053C>T (p.Asp351=) | gnomAD v4 |
| 12 | g.109798725G>C | CA386654401 | TRPV4 | c.1041C>G (p.Asp347Glu) c.*128C>G (n.*128C>G) n.1072C>G c.939C>G (p.Asp313Glu) c.900C>G (p.Asp300Glu) c.1194C>G (p.Asp398Glu) c.1053C>G (p.Asp351Glu) | |
| 12 | g.109798725G= | CA2062572974 | TRPV4 | c.1041C= (p.Asp347=) c.*128C= (n.*128C=) n.1072C= c.939C= (p.Asp313=) c.900C= (p.Asp300=) c.1194C= (p.Asp398=) c.1053C= (p.Asp351=) | |
| 12 | g.109798725G>T | CA386654403 | TRPV4 | c.1041C>A (p.Asp347Glu) c.*128C>A (n.*128C>A) n.1072C>A c.939C>A (p.Asp313Glu) c.900C>A (p.Asp300Glu) c.1194C>A (p.Asp398Glu) c.1053C>A (p.Asp351Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798726T>A | CA386654408 | TRPV4 | c.1040A>T (p.Asp347Val) c.*127A>T (n.*127A>T) n.1071A>T c.938A>T (p.Asp313Val) c.899A>T (p.Asp300Val) c.1193A>T (p.Asp398Val) c.1052A>T (p.Asp351Val) | |
| 12 | g.109798726T>C | CA386654407 | TRPV4 | c.1040A>G (p.Asp347Gly) c.*127A>G (n.*127A>G) n.1071A>G c.938A>G (p.Asp313Gly) c.899A>G (p.Asp300Gly) c.1193A>G (p.Asp398Gly) c.1052A>G (p.Asp351Gly) | |
| 12 | g.109798726T>G | CA386654406 | TRPV4 | c.1040A>C (p.Asp347Ala) c.*127A>C (n.*127A>C) n.1071A>C c.938A>C (p.Asp313Ala) c.899A>C (p.Asp300Ala) c.1193A>C (p.Asp398Ala) c.1052A>C (p.Asp351Ala) | dbSNP |
| 12 | g.109798726T= | CA2062572976 | TRPV4 | c.1040A= (p.Asp347=) c.*127A= (n.*127A=) n.1071A= c.938A= (p.Asp313=) c.899A= (p.Asp300=) c.1193A= (p.Asp398=) c.1052A= (p.Asp351=) | |
| 12 | g.109798727C>A | CA243467623 | TRPV4 | c.1039G>T (p.Asp347Tyr) c.*126G>T (n.*126G>T) n.1070G>T c.937G>T (p.Asp313Tyr) c.898G>T (p.Asp300Tyr) c.1192G>T (p.Asp398Tyr) c.1051G>T (p.Asp351Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798727C= | CA2062572980 | TRPV4 | c.1039G= (p.Asp347=) c.*126G= (n.*126G=) n.1070G= c.937G= (p.Asp313=) c.898G= (p.Asp300=) c.1192G= (p.Asp398=) c.1051G= (p.Asp351=) | |
| 12 | g.109798727C>G | CA386654413 | TRPV4 | c.1039G>C (p.Asp347His) c.*126G>C (n.*126G>C) n.1070G>C c.937G>C (p.Asp313His) c.898G>C (p.Asp300His) c.1192G>C (p.Asp398His) c.1051G>C (p.Asp351His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109798727C>T | CA386654411 | TRPV4 | c.1039G>A (p.Asp347Asn) c.*126G>A (n.*126G>A) n.1070G>A c.937G>A (p.Asp313Asn) c.898G>A (p.Asp300Asn) c.1192G>A (p.Asp398Asn) c.1051G>A (p.Asp351Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798728G>A | CA6780365 | TRPV4 | c.1038C>T (p.Tyr346=) c.*125C>T (n.*125C>T) n.1069C>T c.936C>T (p.Tyr312=) c.897C>T (p.Tyr299=) c.1191C>T (p.Tyr397=) c.1050C>T (p.Tyr350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109798728G>C | CA386654418 | TRPV4 | c.1038C>G (p.Tyr346Ter) c.*125C>G (n.*125C>G) n.1069C>G c.936C>G (p.Tyr312Ter) c.897C>G (p.Tyr299Ter) c.1191C>G (p.Tyr397Ter) c.1050C>G (p.Tyr350Ter) | dbSNP |
| 12 | g.109798728G= | CA2062572987 | TRPV4 | c.1038C= (p.Tyr346=) c.*125C= (n.*125C=) n.1069C= c.936C= (p.Tyr312=) c.897C= (p.Tyr299=) c.1191C= (p.Tyr397=) c.1050C= (p.Tyr350=) | |
| 12 | g.109798728G>T | CA386654416 | TRPV4 | c.1038C>A (p.Tyr346Ter) c.*125C>A (n.*125C>A) n.1069C>A c.936C>A (p.Tyr312Ter) c.897C>A (p.Tyr299Ter) c.1191C>A (p.Tyr397Ter) c.1050C>A (p.Tyr350Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798729T>A | CA386654419 | TRPV4 | c.1037A>T (p.Tyr346Phe) c.*124A>T (n.*124A>T) n.1068A>T c.935A>T (p.Tyr312Phe) c.896A>T (p.Tyr299Phe) c.1190A>T (p.Tyr397Phe) c.1049A>T (p.Tyr350Phe) | dbSNP |
| 12 | g.109798729T>C | CA386654420 | TRPV4 | c.1037A>G (p.Tyr346Cys) c.*124A>G (n.*124A>G) n.1068A>G c.935A>G (p.Tyr312Cys) c.896A>G (p.Tyr299Cys) c.1190A>G (p.Tyr397Cys) c.1049A>G (p.Tyr350Cys) | |
| 12 | g.109798729T>G | CA386654423 | TRPV4 | c.1037A>C (p.Tyr346Ser) c.*124A>C (n.*124A>C) n.1068A>C c.935A>C (p.Tyr312Ser) c.896A>C (p.Tyr299Ser) c.1190A>C (p.Tyr397Ser) c.1049A>C (p.Tyr350Ser) | |
| 12 | g.109798730A>C | CA386654424 | TRPV4 | c.1036T>G (p.Tyr346Asp) c.*123T>G (n.*123T>G) n.1067T>G c.934T>G (p.Tyr312Asp) c.895T>G (p.Tyr299Asp) c.1189T>G (p.Tyr397Asp) c.1048T>G (p.Tyr350Asp) | |
| 12 | g.109798730A>G | CA386654426 | TRPV4 | c.1036T>C (p.Tyr346His) c.*123T>C (n.*123T>C) n.1067T>C c.934T>C (p.Tyr312His) c.895T>C (p.Tyr299His) c.1189T>C (p.Tyr397His) c.1048T>C (p.Tyr350His) | |
| 12 | g.109798730A>T | CA386654428 | TRPV4 | c.1036T>A (p.Tyr346Asn) c.*123T>A (n.*123T>A) n.1067T>A c.934T>A (p.Tyr312Asn) c.895T>A (p.Tyr299Asn) c.1189T>A (p.Tyr397Asn) c.1048T>A (p.Tyr350Asn) | |
| 12 | g.109798731C>A | CA386654430 | TRPV4 | c.1035G>T (p.Met345Ile) c.*122G>T (n.*122G>T) n.1066G>T c.933G>T (p.Met311Ile) c.894G>T (p.Met298Ile) c.1188G>T (p.Met396Ile) c.1047G>T (p.Met349Ile) | |
| 12 | g.109798731C= | CA2062572990 | TRPV4 | c.1035G= (p.Met345=) c.*122G= (n.*122G=) n.1066G= c.933G= (p.Met311=) c.894G= (p.Met298=) c.1188G= (p.Met396=) c.1047G= (p.Met349=) | |
| 12 | g.109798731C>G | CA386654431 | TRPV4 | c.1035G>C (p.Met345Ile) c.*122G>C (n.*122G>C) n.1066G>C c.933G>C (p.Met311Ile) c.894G>C (p.Met298Ile) c.1188G>C (p.Met396Ile) c.1047G>C (p.Met349Ile) | |
| 12 | g.109798731C>T | CA6780366 | TRPV4 | c.1035G>A (p.Met345Ile) c.*122G>A (n.*122G>A) n.1066G>A c.933G>A (p.Met311Ile) c.894G>A (p.Met298Ile) c.1188G>A (p.Met396Ile) c.1047G>A (p.Met349Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798732A>C | CA386654434 | TRPV4 | c.1034T>G (p.Met345Arg) c.*121T>G (n.*121T>G) n.1065T>G c.932T>G (p.Met311Arg) c.893T>G (p.Met298Arg) c.1187T>G (p.Met396Arg) c.1046T>G (p.Met349Arg) | |
| 12 | g.109798732A>G | CA386654436 | TRPV4 | c.1034T>C (p.Met345Thr) c.*121T>C (n.*121T>C) n.1065T>C c.932T>C (p.Met311Thr) c.893T>C (p.Met298Thr) c.1187T>C (p.Met396Thr) c.1046T>C (p.Met349Thr) | |
| 12 | g.109798732A>T | CA386654437 | TRPV4 | c.1034T>A (p.Met345Lys) c.*121T>A (n.*121T>A) n.1065T>A c.932T>A (p.Met311Lys) c.893T>A (p.Met298Lys) c.1187T>A (p.Met396Lys) c.1046T>A (p.Met349Lys) | gnomAD v4 |
| 12 | g.109798733T>A | CA386654438 | TRPV4 | c.1033A>T (p.Met345Leu) c.*120A>T (n.*120A>T) n.1064A>T c.931A>T (p.Met311Leu) c.892A>T (p.Met298Leu) c.1186A>T (p.Met396Leu) c.1045A>T (p.Met349Leu) | |
| 12 | g.109798733T>C | CA386654441 | TRPV4 | c.1033A>G (p.Met345Val) c.*120A>G (n.*120A>G) n.1064A>G c.931A>G (p.Met311Val) c.892A>G (p.Met298Val) c.1186A>G (p.Met396Val) c.1045A>G (p.Met349Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798733T>G | CA386654440 | TRPV4 | c.1033A>C (p.Met345Leu) c.*120A>C (n.*120A>C) n.1064A>C c.931A>C (p.Met311Leu) c.892A>C (p.Met298Leu) c.1186A>C (p.Met396Leu) c.1045A>C (p.Met349Leu) | |
| 12 | g.109798733T= | CA2062572992 | TRPV4 | c.1033A= (p.Met345=) c.*120A= (n.*120A=) n.1064A= c.931A= (p.Met311=) c.892A= (p.Met298=) c.1186A= (p.Met396=) c.1045A= (p.Met349=) | |
| 12 | g.109798734C>A | CA386654443 | TRPV4 | c.1032G>T (p.Lys344Asn) c.*119G>T (n.*119G>T) n.1063G>T c.930G>T (p.Lys310Asn) c.891G>T (p.Lys297Asn) c.1185G>T (p.Lys395Asn) c.1044G>T (p.Lys348Asn) | |
| 12 | g.109798734C= | CA2062572995 | TRPV4 | c.1032G= (p.Lys344=) c.*119G= (n.*119G=) n.1063G= c.930G= (p.Lys310=) c.891G= (p.Lys297=) c.1185G= (p.Lys395=) c.1044G= (p.Lys348=) | |
| 12 | g.109798734C>G | CA386654445 | TRPV4 | c.1032G>C (p.Lys344Asn) c.*119G>C (n.*119G>C) n.1063G>C c.930G>C (p.Lys310Asn) c.891G>C (p.Lys297Asn) c.1185G>C (p.Lys395Asn) c.1044G>C (p.Lys348Asn) | gnomAD v4 |
| 12 | g.109798734C>T | CA6780367 | TRPV4 | c.1032G>A (p.Lys344=) c.*119G>A (n.*119G>A) n.1063G>A c.930G>A (p.Lys310=) c.891G>A (p.Lys297=) c.1185G>A (p.Lys395=) c.1044G>A (p.Lys348=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798735T>A | CA386654448 | TRPV4 | c.1031A>T (p.Lys344Met) c.*118A>T (n.*118A>T) n.1062A>T c.929A>T (p.Lys310Met) c.890A>T (p.Lys297Met) c.1184A>T (p.Lys395Met) c.1043A>T (p.Lys348Met) | |
| 12 | g.109798735T>C | CA386654450 | TRPV4 | c.1031A>G (p.Lys344Arg) c.*118A>G (n.*118A>G) n.1062A>G c.929A>G (p.Lys310Arg) c.890A>G (p.Lys297Arg) c.1184A>G (p.Lys395Arg) c.1043A>G (p.Lys348Arg) | dbSNP gnomAD v4 |
| 12 | g.109798735T>G | CA386654451 | TRPV4 | c.1031A>C (p.Lys344Thr) c.*118A>C (n.*118A>C) n.1062A>C c.929A>C (p.Lys310Thr) c.890A>C (p.Lys297Thr) c.1184A>C (p.Lys395Thr) c.1043A>C (p.Lys348Thr) | |
| 12 | g.109798735T= | CA2062572997 | TRPV4 | c.1031A= (p.Lys344=) c.*118A= (n.*118A=) n.1062A= c.929A= (p.Lys310=) c.890A= (p.Lys297=) c.1184A= (p.Lys395=) c.1043A= (p.Lys348=) | |
| 12 | g.109798736T>A | CA386654454 | TRPV4 | c.1030A>T (p.Lys344Ter) c.*117A>T (n.*117A>T) n.1061A>T c.928A>T (p.Lys310Ter) c.889A>T (p.Lys297Ter) c.1183A>T (p.Lys395Ter) c.1042A>T (p.Lys348Ter) | |
| 12 | g.109798736T>C | CA386654455 | TRPV4 | c.1030A>G (p.Lys344Glu) c.*117A>G (n.*117A>G) n.1061A>G c.928A>G (p.Lys310Glu) c.889A>G (p.Lys297Glu) c.1183A>G (p.Lys395Glu) c.1042A>G (p.Lys348Glu) | |
| 12 | g.109798736T>G | CA386654456 | TRPV4 | c.1030A>C (p.Lys344Gln) c.*117A>C (n.*117A>C) n.1061A>C c.928A>C (p.Lys310Gln) c.889A>C (p.Lys297Gln) c.1183A>C (p.Lys395Gln) c.1042A>C (p.Lys348Gln) | |
| 12 | g.109798737G>A | CA481867380 | TRPV4 | c.1029C>T (p.Thr343=) c.*116C>T (n.*116C>T) n.1060C>T c.927C>T (p.Thr309=) c.888C>T (p.Thr296=) c.1182C>T (p.Thr394=) c.1041C>T (p.Thr347=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798737G>C | CA481867381 | TRPV4 | c.1029C>G (p.Thr343=) c.*116C>G (n.*116C>G) n.1060C>G c.927C>G (p.Thr309=) c.888C>G (p.Thr296=) c.1182C>G (p.Thr394=) c.1041C>G (p.Thr347=) | |
| 12 | g.109798737G= | CA2062572999 | TRPV4 | c.1029C= (p.Thr343=) c.*116C= (n.*116C=) n.1060C= c.927C= (p.Thr309=) c.888C= (p.Thr296=) c.1182C= (p.Thr394=) c.1041C= (p.Thr347=) | |
| 12 | g.109798737G>T | CA481867382 | TRPV4 | c.1029C>A (p.Thr343=) c.*116C>A (n.*116C>A) n.1060C>A c.927C>A (p.Thr309=) c.888C>A (p.Thr296=) c.1182C>A (p.Thr394=) c.1041C>A (p.Thr347=) | |
| 12 | g.109798738G>A | CA386654461 | TRPV4 | c.1028C>T (p.Thr343Ile) c.*115C>T (n.*115C>T) n.1059C>T c.926C>T (p.Thr309Ile) c.887C>T (p.Thr296Ile) c.1181C>T (p.Thr394Ile) c.1040C>T (p.Thr347Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109798738G>C | CA386654462 | TRPV4 | c.1028C>G (p.Thr343Ser) c.*115C>G (n.*115C>G) n.1059C>G c.926C>G (p.Thr309Ser) c.887C>G (p.Thr296Ser) c.1181C>G (p.Thr394Ser) c.1040C>G (p.Thr347Ser) | gnomAD v4 |
| 12 | g.109798738G= | CA2062573001 | TRPV4 | c.1028C= (p.Thr343=) c.*115C= (n.*115C=) n.1059C= c.926C= (p.Thr309=) c.887C= (p.Thr296=) c.1181C= (p.Thr394=) c.1040C= (p.Thr347=) | |
| 12 | g.109798738G>T | CA386654459 | TRPV4 | c.1028C>A (p.Thr343Asn) c.*115C>A (n.*115C>A) n.1059C>A c.926C>A (p.Thr309Asn) c.887C>A (p.Thr296Asn) c.1181C>A (p.Thr394Asn) c.1040C>A (p.Thr347Asn) | |
| 12 | g.109798739T>A | CA386654464 | TRPV4 | c.1027A>T (p.Thr343Ser) c.*114A>T (n.*114A>T) n.1058A>T c.925A>T (p.Thr309Ser) c.886A>T (p.Thr296Ser) c.1180A>T (p.Thr394Ser) c.1039A>T (p.Thr347Ser) | |
| 12 | g.109798739T>C | CA386654466 | TRPV4 | c.1027A>G (p.Thr343Ala) c.*114A>G (n.*114A>G) n.1058A>G c.925A>G (p.Thr309Ala) c.886A>G (p.Thr296Ala) c.1180A>G (p.Thr394Ala) c.1039A>G (p.Thr347Ala) | |
| 12 | g.109798739T>G | CA386654467 | TRPV4 | c.1027A>C (p.Thr343Pro) c.*114A>C (n.*114A>C) n.1058A>C c.925A>C (p.Thr309Pro) c.886A>C (p.Thr296Pro) c.1180A>C (p.Thr394Pro) c.1039A>C (p.Thr347Pro) | |
| 12 | g.109798740A>C | CA481867388 | TRPV4 | c.1026T>G (p.Val342=) c.*113T>G (n.*113T>G) n.1057T>G c.924T>G (p.Val308=) c.885T>G (p.Val295=) c.1179T>G (p.Val393=) c.1038T>G (p.Val346=) | |
| 12 | g.109798740A>G | CA481867389 | TRPV4 | c.1026T>C (p.Val342=) c.*113T>C (n.*113T>C) n.1057T>C c.924T>C (p.Val308=) c.885T>C (p.Val295=) c.1179T>C (p.Val393=) c.1038T>C (p.Val346=) | gnomAD v4 |
| 12 | g.109798740A>T | CA481867390 | TRPV4 | c.1026T>A (p.Val342=) c.*113T>A (n.*113T>A) n.1057T>A c.924T>A (p.Val308=) c.885T>A (p.Val295=) c.1179T>A (p.Val393=) c.1038T>A (p.Val346=) | |
| 12 | g.109798741A>C | CA386654469 | TRPV4 | c.1025T>G (p.Val342Gly) c.*112T>G (n.*112T>G) n.1056T>G c.923T>G (p.Val308Gly) c.884T>G (p.Val295Gly) c.1178T>G (p.Val393Gly) c.1037T>G (p.Val346Gly) | |
| 12 | g.109798741A>G | CA386654472 | TRPV4 | c.1025T>C (p.Val342Ala) c.*112T>C (n.*112T>C) n.1056T>C c.923T>C (p.Val308Ala) c.884T>C (p.Val295Ala) c.1178T>C (p.Val393Ala) c.1037T>C (p.Val346Ala) | |
| 12 | g.109798741A>T | CA386654475 | TRPV4 | c.1025T>A (p.Val342Asp) c.*112T>A (n.*112T>A) n.1056T>A c.923T>A (p.Val308Asp) c.884T>A (p.Val295Asp) c.1178T>A (p.Val393Asp) c.1037T>A (p.Val346Asp) | |
| 12 | g.109798742C>A | CA347708 | TRPV4 | c.1024G>T (p.Val342Phe) c.*111G>T (n.*111G>T) n.1055G>T c.922G>T (p.Val308Phe) c.883G>T (p.Val295Phe) c.1177G>T (p.Val393Phe) c.1036G>T (p.Val346Phe) | ClinVar dbSNP |
| 12 | g.109798742C= | CA2062573004 | TRPV4 | c.1024G= (p.Val342=) c.*111G= (n.*111G=) n.1055G= c.922G= (p.Val308=) c.883G= (p.Val295=) c.1177G= (p.Val393=) c.1036G= (p.Val346=) | |
| 12 | g.109798742C>G | CA386654477 | TRPV4 | c.1024G>C (p.Val342Leu) c.*111G>C (n.*111G>C) n.1055G>C c.922G>C (p.Val308Leu) c.883G>C (p.Val295Leu) c.1177G>C (p.Val393Leu) c.1036G>C (p.Val346Leu) | gnomAD v4 |
| 12 | g.109798742C>T | CA386654480 | TRPV4 | c.1024G>A (p.Val342Ile) c.*111G>A (n.*111G>A) n.1055G>A c.922G>A (p.Val308Ile) c.883G>A (p.Val295Ile) c.1177G>A (p.Val393Ile) c.1036G>A (p.Val346Ile) | gnomAD v4 |
| 12 | g.109798743A>C | CA386654482 | TRPV4 | c.1023T>G (p.Phe341Leu) c.*110T>G (n.*110T>G) n.1054T>G c.921T>G (p.Phe307Leu) c.882T>G (p.Phe294Leu) c.1176T>G (p.Phe392Leu) c.1035T>G (p.Phe345Leu) | |
| 12 | g.109798743A>G | CA481867393 | TRPV4 | c.1023T>C (p.Phe341=) c.*110T>C (n.*110T>C) n.1054T>C c.921T>C (p.Phe307=) c.882T>C (p.Phe294=) c.1176T>C (p.Phe392=) c.1035T>C (p.Phe345=) | dbSNP |
| 12 | g.109798743A>T | CA386654484 | TRPV4 | c.1023T>A (p.Phe341Leu) c.*110T>A (n.*110T>A) n.1054T>A c.921T>A (p.Phe307Leu) c.882T>A (p.Phe294Leu) c.1176T>A (p.Phe392Leu) c.1035T>A (p.Phe345Leu) | |
| 12 | g.109798745dup | CA2620828363 | TRPV4 | c.1023dup (p.Val342CysfsTer?) c.*110dup (n.*110dup) n.1054dup c.921dup (p.Val308CysfsTer?) c.882dup (p.Val295CysfsTer?) c.1176dup (p.Val393CysfsTer?) c.1035dup (p.Val346CysfsTer?) | gnomAD v4 |
| 12 | g.109798744A>C | CA386654489 | TRPV4 | c.1022T>G (p.Phe341Cys) c.*109T>G (n.*109T>G) n.1053T>G c.920T>G (p.Phe307Cys) c.881T>G (p.Phe294Cys) c.1175T>G (p.Phe392Cys) c.1034T>G (p.Phe345Cys) | |
| 12 | g.109798744A>G | CA386654492 | TRPV4 | c.1022T>C (p.Phe341Ser) c.*109T>C (n.*109T>C) n.1053T>C c.920T>C (p.Phe307Ser) c.881T>C (p.Phe294Ser) c.1175T>C (p.Phe392Ser) c.1034T>C (p.Phe345Ser) | |
| 12 | g.109798744A>T | CA386654487 | TRPV4 | c.1022T>A (p.Phe341Tyr) c.*109T>A (n.*109T>A) n.1053T>A c.920T>A (p.Phe307Tyr) c.881T>A (p.Phe294Tyr) c.1175T>A (p.Phe392Tyr) c.1034T>A (p.Phe345Tyr) | |
| 12 | g.109798745A>C | CA386654494 | TRPV4 | c.1021T>G (p.Phe341Val) c.*108T>G (n.*108T>G) n.1052T>G c.919T>G (p.Phe307Val) c.880T>G (p.Phe294Val) c.1174T>G (p.Phe392Val) c.1033T>G (p.Phe345Val) | |
| 12 | g.109798745A>G | CA386654497 | TRPV4 | c.1021T>C (p.Phe341Leu) c.*108T>C (n.*108T>C) n.1052T>C c.919T>C (p.Phe307Leu) c.880T>C (p.Phe294Leu) c.1174T>C (p.Phe392Leu) c.1033T>C (p.Phe345Leu) | |
| 12 | g.109798745A>T | CA386654499 | TRPV4 | c.1021T>A (p.Phe341Ile) c.*108T>A (n.*108T>A) n.1052T>A c.919T>A (p.Phe307Ile) c.880T>A (p.Phe294Ile) c.1174T>A (p.Phe392Ile) c.1033T>A (p.Phe345Ile) | |
| 12 | g.109798746C>A | CA386654501 | TRPV4 | c.1020G>T (p.Lys340Asn) c.*107G>T (n.*107G>T) n.1051G>T c.918G>T (p.Lys306Asn) c.879G>T (p.Lys293Asn) c.1173G>T (p.Lys391Asn) c.1032G>T (p.Lys344Asn) | |
| 12 | g.109798746C>G | CA386654502 | TRPV4 | c.1020G>C (p.Lys340Asn) c.*107G>C (n.*107G>C) n.1051G>C c.918G>C (p.Lys306Asn) c.879G>C (p.Lys293Asn) c.1173G>C (p.Lys391Asn) c.1032G>C (p.Lys344Asn) | |
| 12 | g.109798746C>T | CA481867396 | TRPV4 | c.1020G>A (p.Lys340=) c.*107G>A (n.*107G>A) n.1051G>A c.918G>A (p.Lys306=) c.879G>A (p.Lys293=) c.1173G>A (p.Lys391=) c.1032G>A (p.Lys344=) | COSMIC |
| 12 | g.109798747T>A | CA386654507 | TRPV4 | c.1019A>T (p.Lys340Met) c.*106A>T (n.*106A>T) n.1050A>T c.917A>T (p.Lys306Met) c.878A>T (p.Lys293Met) c.1172A>T (p.Lys391Met) c.1031A>T (p.Lys344Met) | |
| 12 | g.109798747T>C | CA386654503 | TRPV4 | c.1019A>G (p.Lys340Arg) c.*106A>G (n.*106A>G) n.1050A>G c.917A>G (p.Lys306Arg) c.878A>G (p.Lys293Arg) c.1172A>G (p.Lys391Arg) c.1031A>G (p.Lys344Arg) | |
| 12 | g.109798747T>G | CA386654505 | TRPV4 | c.1019A>C (p.Lys340Thr) c.*106A>C (n.*106A>C) n.1050A>C c.917A>C (p.Lys306Thr) c.878A>C (p.Lys293Thr) c.1172A>C (p.Lys391Thr) c.1031A>C (p.Lys344Thr) | |
| 12 | g.109798748T>A | CA386654509 | TRPV4 | c.1018A>T (p.Lys340Ter) c.*105A>T (n.*105A>T) n.1049A>T c.916A>T (p.Lys306Ter) c.877A>T (p.Lys293Ter) c.1171A>T (p.Lys391Ter) c.1030A>T (p.Lys344Ter) | |
| 12 | g.109798748T>C | CA386654511 | TRPV4 | c.1018A>G (p.Lys340Glu) c.*105A>G (n.*105A>G) n.1049A>G c.916A>G (p.Lys306Glu) c.877A>G (p.Lys293Glu) c.1171A>G (p.Lys391Glu) c.1030A>G (p.Lys344Glu) | |
| 12 | g.109798748T>G | CA386654513 | TRPV4 | c.1018A>C (p.Lys340Gln) c.*105A>C (n.*105A>C) n.1049A>C c.916A>C (p.Lys306Gln) c.877A>C (p.Lys293Gln) c.1171A>C (p.Lys391Gln) c.1030A>C (p.Lys344Gln) | |
| 12 | g.109798749G>A | CA481867399 | TRPV4 | c.1017C>T (p.Thr339=) c.*104C>T (n.*104C>T) n.1048C>T c.915C>T (p.Thr305=) c.876C>T (p.Thr292=) c.1170C>T (p.Thr390=) c.1029C>T (p.Thr343=) | |
| 12 | g.109798749G>C | CA481867400 | TRPV4 | c.1017C>G (p.Thr339=) c.*104C>G (n.*104C>G) n.1048C>G c.915C>G (p.Thr305=) c.876C>G (p.Thr292=) c.1170C>G (p.Thr390=) c.1029C>G (p.Thr343=) | gnomAD v4 |
| 12 | g.109798749G>T | CA481867401 | TRPV4 | c.1017C>A (p.Thr339=) c.*104C>A (n.*104C>A) n.1048C>A c.915C>A (p.Thr305=) c.876C>A (p.Thr292=) c.1170C>A (p.Thr390=) c.1029C>A (p.Thr343=) | |
| 12 | g.109798750G>A | CA386654517 | TRPV4 | c.1016C>T (p.Thr339Ile) c.*103C>T (n.*103C>T) n.1047C>T c.914C>T (p.Thr305Ile) c.875C>T (p.Thr292Ile) c.1169C>T (p.Thr390Ile) c.1028C>T (p.Thr343Ile) | |
| 12 | g.109798750G>C | CA386654519 | TRPV4 | c.1016C>G (p.Thr339Ser) c.*103C>G (n.*103C>G) n.1047C>G c.914C>G (p.Thr305Ser) c.875C>G (p.Thr292Ser) c.1169C>G (p.Thr390Ser) c.1028C>G (p.Thr343Ser) | |
| 12 | g.109798750G>T | CA386654520 | TRPV4 | c.1016C>A (p.Thr339Asn) c.*103C>A (n.*103C>A) n.1047C>A c.914C>A (p.Thr305Asn) c.875C>A (p.Thr292Asn) c.1169C>A (p.Thr390Asn) c.1028C>A (p.Thr343Asn) |