UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71645829_71645863delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG | CA1918809233 | CDH23 | c.1141-2_1173delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.572-2_604delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG n.977-2_1009delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.805-2_837delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.1156-2_1188delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.886-2_918delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.110-2_142delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.1139_1173delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG (p.Gln380=) c.1336-2_1368delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.1270-2_1302delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.1330-2_1362delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.1276-2_1308delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.1201-2_1233delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.796-2_828delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG c.154-2_186delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG n.1579-2_1611delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG | |
| 10 | g.71645833_71645866del | CA5543716 | CDH23 | c.1143_1176del c.574_607del n.979_1012del c.807_840del c.1158_1191del c.888_921del c.112_145del c.1143_1176del (p.Leu382ThrfsTer?) c.1338_1371del c.1272_1305del c.1332_1365del c.1278_1311del c.1203_1236del c.798_831del c.156_189del n.1581_1614del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71645839C>A | CA5543718 | CDH23 | c.1149C>A (p.Asn383Lys) c.580C>A n.985C>A c.813C>A (p.Asn271Lys) c.1164C>A (p.Asn388Lys) c.894C>A (p.Asn298Lys) c.118C>A c.1344C>A (p.Asn448Lys) c.1278C>A (p.Asn426Lys) c.1338C>A (p.Asn446Lys) c.1284C>A (p.Asn428Lys) c.1209C>A (p.Asn403Lys) c.804C>A (p.Asn268Lys) c.162C>A (p.Asn54Lys) n.1587C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71645839C= | CA1918809237 | CDH23 | c.1149C= (p.Asn383=) c.580C= n.985C= c.813C= (p.Asn271=) c.1164C= (p.Asn388=) c.894C= (p.Asn298=) c.118C= c.1344C= (p.Asn448=) c.1278C= (p.Asn426=) c.1338C= (p.Asn446=) c.1284C= (p.Asn428=) c.1209C= (p.Asn403=) c.804C= (p.Asn268=) c.162C= (p.Asn54=) n.1587C= | |
| 10 | g.71645839C>G | CA377127397 | CDH23 | c.1149C>G (p.Asn383Lys) c.580C>G n.985C>G c.813C>G (p.Asn271Lys) c.1164C>G (p.Asn388Lys) c.894C>G (p.Asn298Lys) c.118C>G c.1344C>G (p.Asn448Lys) c.1278C>G (p.Asn426Lys) c.1338C>G (p.Asn446Lys) c.1284C>G (p.Asn428Lys) c.1209C>G (p.Asn403Lys) c.804C>G (p.Asn268Lys) c.162C>G (p.Asn54Lys) n.1587C>G | |
| 10 | g.71645839C>T | CA470057943 | CDH23 | c.1149C>T (p.Asn383=) c.580C>T n.985C>T c.813C>T (p.Asn271=) c.1164C>T (p.Asn388=) c.894C>T (p.Asn298=) c.118C>T c.1344C>T (p.Asn448=) c.1278C>T (p.Asn426=) c.1338C>T (p.Asn446=) c.1284C>T (p.Asn428=) c.1209C>T (p.Asn403=) c.804C>T (p.Asn268=) c.162C>T (p.Asn54=) n.1587C>T | COSMIC |
| 10 | g.71645840A= | CA1918809238 | CDH23 | c.1150A= (p.Ser384=) c.581A= n.986A= c.814A= (p.Ser272=) c.1165A= (p.Ser389=) c.895A= (p.Ser299=) c.119A= c.1345A= (p.Ser449=) c.1279A= (p.Ser427=) c.1339A= (p.Ser447=) c.1285A= (p.Ser429=) c.1210A= (p.Ser404=) c.805A= (p.Ser269=) c.163A= (p.Ser55=) n.1588A= | |
| 10 | g.71645840A>C | CA377127399 | CDH23 | c.1150A>C (p.Ser384Arg) c.581A>C n.986A>C c.814A>C (p.Ser272Arg) c.1165A>C (p.Ser389Arg) c.895A>C (p.Ser299Arg) c.119A>C c.1345A>C (p.Ser449Arg) c.1279A>C (p.Ser427Arg) c.1339A>C (p.Ser447Arg) c.1285A>C (p.Ser429Arg) c.1210A>C (p.Ser404Arg) c.805A>C (p.Ser269Arg) c.163A>C (p.Ser55Arg) n.1588A>C | |
| 10 | g.71645840A>G | CA377127401 | CDH23 | c.1150A>G (p.Ser384Gly) c.581A>G n.986A>G c.814A>G (p.Ser272Gly) c.1165A>G (p.Ser389Gly) c.895A>G (p.Ser299Gly) c.119A>G c.1345A>G (p.Ser449Gly) c.1279A>G (p.Ser427Gly) c.1339A>G (p.Ser447Gly) c.1285A>G (p.Ser429Gly) c.1210A>G (p.Ser404Gly) c.805A>G (p.Ser269Gly) c.163A>G (p.Ser55Gly) n.1588A>G | dbSNP gnomAD v4 |
| 10 | g.71645840A>T | CA377127403 | CDH23 | c.1150A>T (p.Ser384Cys) c.581A>T n.986A>T c.814A>T (p.Ser272Cys) c.1165A>T (p.Ser389Cys) c.895A>T (p.Ser299Cys) c.119A>T c.1345A>T (p.Ser449Cys) c.1279A>T (p.Ser427Cys) c.1339A>T (p.Ser447Cys) c.1285A>T (p.Ser429Cys) c.1210A>T (p.Ser404Cys) c.805A>T (p.Ser269Cys) c.163A>T (p.Ser55Cys) n.1588A>T | |
| 10 | g.71645841G>A | CA5543719 | CDH23 | c.1151G>A (p.Ser384Asn) c.582G>A n.987G>A c.815G>A (p.Ser272Asn) c.1166G>A (p.Ser389Asn) c.896G>A (p.Ser299Asn) c.120G>A c.1346G>A (p.Ser449Asn) c.1280G>A (p.Ser427Asn) c.1340G>A (p.Ser447Asn) c.1286G>A (p.Ser429Asn) c.1211G>A (p.Ser404Asn) c.806G>A (p.Ser269Asn) c.164G>A (p.Ser55Asn) n.1589G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71645841G>C | CA377127406 | CDH23 | c.1151G>C (p.Ser384Thr) c.582G>C n.987G>C c.815G>C (p.Ser272Thr) c.1166G>C (p.Ser389Thr) c.896G>C (p.Ser299Thr) c.120G>C c.1346G>C (p.Ser449Thr) c.1280G>C (p.Ser427Thr) c.1340G>C (p.Ser447Thr) c.1286G>C (p.Ser429Thr) c.1211G>C (p.Ser404Thr) c.806G>C (p.Ser269Thr) c.164G>C (p.Ser55Thr) n.1589G>C | |
| 10 | g.71645841G= | CA1918809239 | CDH23 | c.1151G= (p.Ser384=) c.582G= n.987G= c.815G= (p.Ser272=) c.1166G= (p.Ser389=) c.896G= (p.Ser299=) c.120G= c.1346G= (p.Ser449=) c.1280G= (p.Ser427=) c.1340G= (p.Ser447=) c.1286G= (p.Ser429=) c.1211G= (p.Ser404=) c.806G= (p.Ser269=) c.164G= (p.Ser55=) n.1589G= | |
| 10 | g.71645841G>T | CA377127408 | CDH23 | c.1151G>T (p.Ser384Ile) c.582G>T n.987G>T c.815G>T (p.Ser272Ile) c.1166G>T (p.Ser389Ile) c.896G>T (p.Ser299Ile) c.120G>T c.1346G>T (p.Ser449Ile) c.1280G>T (p.Ser427Ile) c.1340G>T (p.Ser447Ile) c.1286G>T (p.Ser429Ile) c.1211G>T (p.Ser404Ile) c.806G>T (p.Ser269Ile) c.164G>T (p.Ser55Ile) n.1589G>T | |
| 10 | g.71645842C>A | CA377127412 | CDH23 | c.1152C>A (p.Ser384Arg) c.583C>A n.988C>A c.816C>A (p.Ser272Arg) c.1167C>A (p.Ser389Arg) c.897C>A (p.Ser299Arg) c.121C>A c.1347C>A (p.Ser449Arg) c.1281C>A (p.Ser427Arg) c.1341C>A (p.Ser447Arg) c.1287C>A (p.Ser429Arg) c.1212C>A (p.Ser404Arg) c.807C>A (p.Ser269Arg) c.165C>A (p.Ser55Arg) n.1590C>A | ClinVar gnomAD v4 |
| 10 | g.71645842C>G | CA377127410 | CDH23 | c.1152C>G (p.Ser384Arg) c.583C>G n.988C>G c.816C>G (p.Ser272Arg) c.1167C>G (p.Ser389Arg) c.897C>G (p.Ser299Arg) c.121C>G c.1347C>G (p.Ser449Arg) c.1281C>G (p.Ser427Arg) c.1341C>G (p.Ser447Arg) c.1287C>G (p.Ser429Arg) c.1212C>G (p.Ser404Arg) c.807C>G (p.Ser269Arg) c.165C>G (p.Ser55Arg) n.1590C>G | |
| 10 | g.71645842C>T | CA470057944 | CDH23 | c.1152C>T (p.Ser384=) c.583C>T n.988C>T c.816C>T (p.Ser272=) c.1167C>T (p.Ser389=) c.897C>T (p.Ser299=) c.121C>T c.1347C>T (p.Ser449=) c.1281C>T (p.Ser427=) c.1341C>T (p.Ser447=) c.1287C>T (p.Ser429=) c.1212C>T (p.Ser404=) c.807C>T (p.Ser269=) c.165C>T (p.Ser55=) n.1590C>T | ClinVar |
| 10 | g.71645843A= | CA1918809240 | CDH23 | c.1153A= (p.Met385=) c.584A= n.989A= c.817A= (p.Met273=) c.1168A= (p.Met390=) c.898A= (p.Met300=) c.122A= c.1348A= (p.Met450=) c.1282A= (p.Met428=) c.1342A= (p.Met448=) c.1288A= (p.Met430=) c.1213A= (p.Met405=) c.808A= (p.Met270=) c.166A= (p.Met56=) n.1591A= | |
| 10 | g.71645843A>C | CA377127415 | CDH23 | c.1153A>C (p.Met385Leu) c.584A>C n.989A>C c.817A>C (p.Met273Leu) c.1168A>C (p.Met390Leu) c.898A>C (p.Met300Leu) c.122A>C c.1348A>C (p.Met450Leu) c.1282A>C (p.Met428Leu) c.1342A>C (p.Met448Leu) c.1288A>C (p.Met430Leu) c.1213A>C (p.Met405Leu) c.808A>C (p.Met270Leu) c.166A>C (p.Met56Leu) n.1591A>C | |
| 10 | g.71645843A>G | CA377127417 | CDH23 | c.1153A>G (p.Met385Val) c.584A>G n.989A>G c.817A>G (p.Met273Val) c.1168A>G (p.Met390Val) c.898A>G (p.Met300Val) c.122A>G c.1348A>G (p.Met450Val) c.1282A>G (p.Met428Val) c.1342A>G (p.Met448Val) c.1288A>G (p.Met430Val) c.1213A>G (p.Met405Val) c.808A>G (p.Met270Val) c.166A>G (p.Met56Val) n.1591A>G | gnomAD v4 |
| 10 | g.71645843A>T | CA5543720 | CDH23 | c.1153A>T (p.Met385Leu) c.584A>T n.989A>T c.817A>T (p.Met273Leu) c.1168A>T (p.Met390Leu) c.898A>T (p.Met300Leu) c.122A>T c.1348A>T (p.Met450Leu) c.1282A>T (p.Met428Leu) c.1342A>T (p.Met448Leu) c.1288A>T (p.Met430Leu) c.1213A>T (p.Met405Leu) c.808A>T (p.Met270Leu) c.166A>T (p.Met56Leu) n.1591A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71645844T>A | CA377127420 | CDH23 | c.1154T>A (p.Met385Lys) c.585T>A n.990T>A c.818T>A (p.Met273Lys) c.1169T>A (p.Met390Lys) c.899T>A (p.Met300Lys) c.123T>A c.1349T>A (p.Met450Lys) c.1283T>A (p.Met428Lys) c.1343T>A (p.Met448Lys) c.1289T>A (p.Met430Lys) c.1214T>A (p.Met405Lys) c.809T>A (p.Met270Lys) c.167T>A (p.Met56Lys) n.1592T>A | |
| 10 | g.71645844T>C | CA377127422 | CDH23 | c.1154T>C (p.Met385Thr) c.585T>C n.990T>C c.818T>C (p.Met273Thr) c.1169T>C (p.Met390Thr) c.899T>C (p.Met300Thr) c.123T>C c.1349T>C (p.Met450Thr) c.1283T>C (p.Met428Thr) c.1343T>C (p.Met448Thr) c.1289T>C (p.Met430Thr) c.1214T>C (p.Met405Thr) c.809T>C (p.Met270Thr) c.167T>C (p.Met56Thr) n.1592T>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.71645844T>G | CA377127424 | CDH23 | c.1154T>G (p.Met385Arg) c.585T>G n.990T>G c.818T>G (p.Met273Arg) c.1169T>G (p.Met390Arg) c.899T>G (p.Met300Arg) c.123T>G c.1349T>G (p.Met450Arg) c.1283T>G (p.Met428Arg) c.1343T>G (p.Met448Arg) c.1289T>G (p.Met430Arg) c.1214T>G (p.Met405Arg) c.809T>G (p.Met270Arg) c.167T>G (p.Met56Arg) n.1592T>G | gnomAD v4 |
| 10 | g.71645844T= | CA1918809241 | CDH23 | c.1154T= (p.Met385=) c.585T= n.990T= c.818T= (p.Met273=) c.1169T= (p.Met390=) c.899T= (p.Met300=) c.123T= c.1349T= (p.Met450=) c.1283T= (p.Met428=) c.1343T= (p.Met448=) c.1289T= (p.Met430=) c.1214T= (p.Met405=) c.809T= (p.Met270=) c.167T= (p.Met56=) n.1592T= | |
| 10 | g.71645845G>A | CA377127426 | CDH23 | c.1155G>A (p.Met385Ile) c.586G>A n.991G>A c.819G>A (p.Met273Ile) c.1170G>A (p.Met390Ile) c.900G>A (p.Met300Ile) c.124G>A c.1350G>A (p.Met450Ile) c.1284G>A (p.Met428Ile) c.1344G>A (p.Met448Ile) c.1290G>A (p.Met430Ile) c.1215G>A (p.Met405Ile) c.810G>A (p.Met270Ile) c.168G>A (p.Met56Ile) n.1593G>A | gnomAD v4 |
| 10 | g.71645845G>C | CA377127430 | CDH23 | c.1155G>C (p.Met385Ile) c.586G>C n.991G>C c.819G>C (p.Met273Ile) c.1170G>C (p.Met390Ile) c.900G>C (p.Met300Ile) c.124G>C c.1350G>C (p.Met450Ile) c.1284G>C (p.Met428Ile) c.1344G>C (p.Met448Ile) c.1290G>C (p.Met430Ile) c.1215G>C (p.Met405Ile) c.810G>C (p.Met270Ile) c.168G>C (p.Met56Ile) n.1593G>C | |
| 10 | g.71645845G>T | CA377127428 | CDH23 | c.1155G>T (p.Met385Ile) c.586G>T n.991G>T c.819G>T (p.Met273Ile) c.1170G>T (p.Met390Ile) c.900G>T (p.Met300Ile) c.124G>T c.1350G>T (p.Met450Ile) c.1284G>T (p.Met428Ile) c.1344G>T (p.Met448Ile) c.1290G>T (p.Met430Ile) c.1215G>T (p.Met405Ile) c.810G>T (p.Met270Ile) c.168G>T (p.Met56Ile) n.1593G>T | |
| 10 | g.71645846T>A | CA377127432 | CDH23 | c.1156T>A (p.Phe386Ile) c.587T>A n.992T>A c.820T>A (p.Phe274Ile) c.1171T>A (p.Phe391Ile) c.901T>A (p.Phe301Ile) c.125T>A c.1351T>A (p.Phe451Ile) c.1285T>A (p.Phe429Ile) c.1345T>A (p.Phe449Ile) c.1291T>A (p.Phe431Ile) c.1216T>A (p.Phe406Ile) c.811T>A (p.Phe271Ile) c.169T>A (p.Phe57Ile) n.1594T>A | |
| 10 | g.71645846T>C | CA377127434 | CDH23 | c.1156T>C (p.Phe386Leu) c.587T>C n.992T>C c.820T>C (p.Phe274Leu) c.1171T>C (p.Phe391Leu) c.901T>C (p.Phe301Leu) c.125T>C c.1351T>C (p.Phe451Leu) c.1285T>C (p.Phe429Leu) c.1345T>C (p.Phe449Leu) c.1291T>C (p.Phe431Leu) c.1216T>C (p.Phe406Leu) c.811T>C (p.Phe271Leu) c.169T>C (p.Phe57Leu) n.1594T>C | |
| 10 | g.71645846T>G | CA377127436 | CDH23 | c.1156T>G (p.Phe386Val) c.587T>G n.992T>G c.820T>G (p.Phe274Val) c.1171T>G (p.Phe391Val) c.901T>G (p.Phe301Val) c.125T>G c.1351T>G (p.Phe451Val) c.1285T>G (p.Phe429Val) c.1345T>G (p.Phe449Val) c.1291T>G (p.Phe431Val) c.1216T>G (p.Phe406Val) c.811T>G (p.Phe271Val) c.169T>G (p.Phe57Val) n.1594T>G | |
| 10 | g.71645847T>A | CA377127438 | CDH23 | c.1157T>A (p.Phe386Tyr) c.588T>A n.993T>A c.821T>A (p.Phe274Tyr) c.1172T>A (p.Phe391Tyr) c.902T>A (p.Phe301Tyr) c.126T>A c.1352T>A (p.Phe451Tyr) c.1286T>A (p.Phe429Tyr) c.1346T>A (p.Phe449Tyr) c.1292T>A (p.Phe431Tyr) c.1217T>A (p.Phe406Tyr) c.812T>A (p.Phe271Tyr) c.170T>A (p.Phe57Tyr) n.1595T>A | |
| 10 | g.71645847T>C | CA377127441 | CDH23 | c.1157T>C (p.Phe386Ser) c.588T>C n.993T>C c.821T>C (p.Phe274Ser) c.1172T>C (p.Phe391Ser) c.902T>C (p.Phe301Ser) c.126T>C c.1352T>C (p.Phe451Ser) c.1286T>C (p.Phe429Ser) c.1346T>C (p.Phe449Ser) c.1292T>C (p.Phe431Ser) c.1217T>C (p.Phe406Ser) c.812T>C (p.Phe271Ser) c.170T>C (p.Phe57Ser) n.1595T>C | |
| 10 | g.71645847T>G | CA377127442 | CDH23 | c.1157T>G (p.Phe386Cys) c.588T>G n.993T>G c.821T>G (p.Phe274Cys) c.1172T>G (p.Phe391Cys) c.902T>G (p.Phe301Cys) c.126T>G c.1352T>G (p.Phe451Cys) c.1286T>G (p.Phe429Cys) c.1346T>G (p.Phe449Cys) c.1292T>G (p.Phe431Cys) c.1217T>G (p.Phe406Cys) c.812T>G (p.Phe271Cys) c.170T>G (p.Phe57Cys) n.1595T>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71645847T= | CA1918809242 | CDH23 | c.1157T= (p.Phe386=) c.588T= n.993T= c.821T= (p.Phe274=) c.1172T= (p.Phe391=) c.902T= (p.Phe301=) c.126T= c.1352T= (p.Phe451=) c.1286T= (p.Phe429=) c.1346T= (p.Phe449=) c.1292T= (p.Phe431=) c.1217T= (p.Phe406=) c.812T= (p.Phe271=) c.170T= (p.Phe57=) n.1595T= | |
| 10 | g.71645848T>A | CA377127443 | CDH23 | c.1158T>A (p.Phe386Leu) c.589T>A n.994T>A c.822T>A (p.Phe274Leu) c.1173T>A (p.Phe391Leu) c.903T>A (p.Phe301Leu) c.127T>A c.1353T>A (p.Phe451Leu) c.1287T>A (p.Phe429Leu) c.1347T>A (p.Phe449Leu) c.1293T>A (p.Phe431Leu) c.1218T>A (p.Phe406Leu) c.813T>A (p.Phe271Leu) c.171T>A (p.Phe57Leu) n.1596T>A | |
| 10 | g.71645848T>C | CA470057945 | CDH23 | c.1158T>C (p.Phe386=) c.589T>C n.994T>C c.822T>C (p.Phe274=) c.1173T>C (p.Phe391=) c.903T>C (p.Phe301=) c.127T>C c.1353T>C (p.Phe451=) c.1287T>C (p.Phe429=) c.1347T>C (p.Phe449=) c.1293T>C (p.Phe431=) c.1218T>C (p.Phe406=) c.813T>C (p.Phe271=) c.171T>C (p.Phe57=) n.1596T>C | |
| 10 | g.71645848T>G | CA377127446 | CDH23 | c.1158T>G (p.Phe386Leu) c.589T>G n.994T>G c.822T>G (p.Phe274Leu) c.1173T>G (p.Phe391Leu) c.903T>G (p.Phe301Leu) c.127T>G c.1353T>G (p.Phe451Leu) c.1287T>G (p.Phe429Leu) c.1347T>G (p.Phe449Leu) c.1293T>G (p.Phe431Leu) c.1218T>G (p.Phe406Leu) c.813T>G (p.Phe271Leu) c.171T>G (p.Phe57Leu) n.1596T>G | |
| 10 | g.71645849G>A | CA377127447 | CDH23 | c.1159G>A (p.Glu387Lys) c.590G>A n.995G>A c.823G>A (p.Glu275Lys) c.1174G>A (p.Glu392Lys) c.904G>A (p.Glu302Lys) c.128G>A c.1354G>A (p.Glu452Lys) c.1288G>A (p.Glu430Lys) c.1348G>A (p.Glu450Lys) c.1294G>A (p.Glu432Lys) c.1219G>A (p.Glu407Lys) c.814G>A (p.Glu272Lys) c.172G>A (p.Glu58Lys) n.1597G>A | |
| 10 | g.71645849G>C | CA377127449 | CDH23 | c.1159G>C (p.Glu387Gln) c.590G>C n.995G>C c.823G>C (p.Glu275Gln) c.1174G>C (p.Glu392Gln) c.904G>C (p.Glu302Gln) c.128G>C c.1354G>C (p.Glu452Gln) c.1288G>C (p.Glu430Gln) c.1348G>C (p.Glu450Gln) c.1294G>C (p.Glu432Gln) c.1219G>C (p.Glu407Gln) c.814G>C (p.Glu272Gln) c.172G>C (p.Glu58Gln) n.1597G>C | gnomAD v4 |
| 10 | g.71645849G>T | CA377127450 | CDH23 | c.1159G>T (p.Glu387Ter) c.590G>T n.995G>T c.823G>T (p.Glu275Ter) c.1174G>T (p.Glu392Ter) c.904G>T (p.Glu302Ter) c.128G>T c.1354G>T (p.Glu452Ter) c.1288G>T (p.Glu430Ter) c.1348G>T (p.Glu450Ter) c.1294G>T (p.Glu432Ter) c.1219G>T (p.Glu407Ter) c.814G>T (p.Glu272Ter) c.172G>T (p.Glu58Ter) n.1597G>T | |
| 10 | g.71645850A>C | CA377127452 | CDH23 | c.1160A>C (p.Glu387Ala) c.591A>C n.996A>C c.824A>C (p.Glu275Ala) c.1175A>C (p.Glu392Ala) c.905A>C (p.Glu302Ala) c.129A>C c.1355A>C (p.Glu452Ala) c.1289A>C (p.Glu430Ala) c.1349A>C (p.Glu450Ala) c.1295A>C (p.Glu432Ala) c.1220A>C (p.Glu407Ala) c.815A>C (p.Glu272Ala) c.173A>C (p.Glu58Ala) n.1598A>C | |
| 10 | g.71645850A>G | CA377127456 | CDH23 | c.1160A>G (p.Glu387Gly) c.591A>G n.996A>G c.824A>G (p.Glu275Gly) c.1175A>G (p.Glu392Gly) c.905A>G (p.Glu302Gly) c.129A>G c.1355A>G (p.Glu452Gly) c.1289A>G (p.Glu430Gly) c.1349A>G (p.Glu450Gly) c.1295A>G (p.Glu432Gly) c.1220A>G (p.Glu407Gly) c.815A>G (p.Glu272Gly) c.173A>G (p.Glu58Gly) n.1598A>G | |
| 10 | g.71645850A>T | CA377127454 | CDH23 | c.1160A>T (p.Glu387Val) c.591A>T n.996A>T c.824A>T (p.Glu275Val) c.1175A>T (p.Glu392Val) c.905A>T (p.Glu302Val) c.129A>T c.1355A>T (p.Glu452Val) c.1289A>T (p.Glu430Val) c.1349A>T (p.Glu450Val) c.1295A>T (p.Glu432Val) c.1220A>T (p.Glu407Val) c.815A>T (p.Glu272Val) c.173A>T (p.Glu58Val) n.1598A>T | |
| 10 | g.71645851G>A | CA470057946 | CDH23 | c.1161G>A (p.Glu387=) c.592G>A n.997G>A c.825G>A (p.Glu275=) c.1176G>A (p.Glu392=) c.906G>A (p.Glu302=) c.130G>A c.1356G>A (p.Glu452=) c.1290G>A (p.Glu430=) c.1350G>A (p.Glu450=) c.1296G>A (p.Glu432=) c.1221G>A (p.Glu407=) c.816G>A (p.Glu272=) c.174G>A (p.Glu58=) n.1599G>A | |
| 10 | g.71645851G>C | CA377127458 | CDH23 | c.1161G>C (p.Glu387Asp) c.592G>C n.997G>C c.825G>C (p.Glu275Asp) c.1176G>C (p.Glu392Asp) c.906G>C (p.Glu302Asp) c.130G>C c.1356G>C (p.Glu452Asp) c.1290G>C (p.Glu430Asp) c.1350G>C (p.Glu450Asp) c.1296G>C (p.Glu432Asp) c.1221G>C (p.Glu407Asp) c.816G>C (p.Glu272Asp) c.174G>C (p.Glu58Asp) n.1599G>C | |
| 10 | g.71645851G>T | CA377127459 | CDH23 | c.1161G>T (p.Glu387Asp) c.592G>T n.997G>T c.825G>T (p.Glu275Asp) c.1176G>T (p.Glu392Asp) c.906G>T (p.Glu302Asp) c.130G>T c.1356G>T (p.Glu452Asp) c.1290G>T (p.Glu430Asp) c.1350G>T (p.Glu450Asp) c.1296G>T (p.Glu432Asp) c.1221G>T (p.Glu407Asp) c.816G>T (p.Glu272Asp) c.174G>T (p.Glu58Asp) n.1599G>T | |
| 10 | g.71645852del | CA2573145357 | CDH23 | c.1162del (p.Val388CysfsTer?) c.593del n.998del c.826del (p.Val276CysfsTer?) c.1177del (p.Val393CysfsTer?) c.907del (p.Val303CysfsTer?) c.131del c.1357del (p.Val453CysfsTer?) c.1291del (p.Val431CysfsTer?) c.1351del (p.Val451CysfsTer?) c.1297del (p.Val433CysfsTer?) c.1222del (p.Val408CysfsTer?) c.817del (p.Val273CysfsTer?) c.175del (p.Val59CysfsTer?) n.1600del | ClinVar dbSNP |
| 10 | g.71645852G>A | CA5543721 | CDH23 | c.1162G>A (p.Val388Met) c.593G>A n.998G>A c.826G>A (p.Val276Met) c.1177G>A (p.Val393Met) c.907G>A (p.Val303Met) c.131G>A c.1357G>A (p.Val453Met) c.1291G>A (p.Val431Met) c.1351G>A (p.Val451Met) c.1297G>A (p.Val433Met) c.1222G>A (p.Val408Met) c.817G>A (p.Val273Met) c.175G>A (p.Val59Met) n.1600G>A | dbSNP ExAC gnomAD v2 |
| 10 | g.71645852G>C | CA377127464 | CDH23 | c.1162G>C (p.Val388Leu) c.593G>C n.998G>C c.826G>C (p.Val276Leu) c.1177G>C (p.Val393Leu) c.907G>C (p.Val303Leu) c.131G>C c.1357G>C (p.Val453Leu) c.1291G>C (p.Val431Leu) c.1351G>C (p.Val451Leu) c.1297G>C (p.Val433Leu) c.1222G>C (p.Val408Leu) c.817G>C (p.Val273Leu) c.175G>C (p.Val59Leu) n.1600G>C | gnomAD v4 |