WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71740858_71740860del | CA2580615506 | CDH23 | c.4525_4527del (p.Lys1509del) c.4540_4542del (p.Lys1514del) n.1214_1216del c.4720_4722del (p.Lys1574del) c.4654_4656del (p.Lys1552del) c.4717_4719del (p.Lys1573del) c.4714_4716del (p.Lys1572del) c.4660_4662del (p.Lys1554del) c.4585_4587del (p.Lys1529del) c.4180_4182del (p.Lys1394del) c.3538_3540del (p.Lys1180del) c.1048_1050del (p.Lys350del) n.4963_4965del | ClinVar |
| 10 | g.71740855A>C | CA377160410 | CDH23 | c.4522A>C (p.Lys1508Gln) c.4537A>C (p.Lys1513Gln) n.1211A>C c.4717A>C (p.Lys1573Gln) c.4651A>C (p.Lys1551Gln) c.4714A>C (p.Lys1572Gln) c.4711A>C (p.Lys1571Gln) c.4657A>C (p.Lys1553Gln) c.4582A>C (p.Lys1528Gln) c.4177A>C (p.Lys1393Gln) c.3535A>C (p.Lys1179Gln) c.1045A>C (p.Lys349Gln) n.4960A>C | |
| 10 | g.71740855A>G | CA377160411 | CDH23 | c.4522A>G (p.Lys1508Glu) c.4537A>G (p.Lys1513Glu) n.1211A>G c.4717A>G (p.Lys1573Glu) c.4651A>G (p.Lys1551Glu) c.4714A>G (p.Lys1572Glu) c.4711A>G (p.Lys1571Glu) c.4657A>G (p.Lys1553Glu) c.4582A>G (p.Lys1528Glu) c.4177A>G (p.Lys1393Glu) c.3535A>G (p.Lys1179Glu) c.1045A>G (p.Lys349Glu) n.4960A>G | |
| 10 | g.71740855A>T | CA377160412 | CDH23 | c.4522A>T (p.Lys1508Ter) c.4537A>T (p.Lys1513Ter) n.1211A>T c.4717A>T (p.Lys1573Ter) c.4651A>T (p.Lys1551Ter) c.4714A>T (p.Lys1572Ter) c.4711A>T (p.Lys1571Ter) c.4657A>T (p.Lys1553Ter) c.4582A>T (p.Lys1528Ter) c.4177A>T (p.Lys1393Ter) c.3535A>T (p.Lys1179Ter) c.1045A>T (p.Lys349Ter) n.4960A>T | |
| 10 | g.71740856A= | CA1918853838 | CDH23 | c.4523A= (p.Lys1508=) c.4538A= (p.Lys1513=) n.1212A= c.4718A= (p.Lys1573=) c.4652A= (p.Lys1551=) c.4715A= (p.Lys1572=) c.4712A= (p.Lys1571=) c.4658A= (p.Lys1553=) c.4583A= (p.Lys1528=) c.4178A= (p.Lys1393=) c.3536A= (p.Lys1179=) c.1046A= (p.Lys349=) n.4961A= | |
| 10 | g.71740856A>C | CA377160418 | CDH23 | c.4523A>C (p.Lys1508Thr) c.4538A>C (p.Lys1513Thr) n.1212A>C c.4718A>C (p.Lys1573Thr) c.4652A>C (p.Lys1551Thr) c.4715A>C (p.Lys1572Thr) c.4712A>C (p.Lys1571Thr) c.4658A>C (p.Lys1553Thr) c.4583A>C (p.Lys1528Thr) c.4178A>C (p.Lys1393Thr) c.3536A>C (p.Lys1179Thr) c.1046A>C (p.Lys349Thr) n.4961A>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71740856A>G | CA377160416 | CDH23 | c.4523A>G (p.Lys1508Arg) c.4538A>G (p.Lys1513Arg) n.1212A>G c.4718A>G (p.Lys1573Arg) c.4652A>G (p.Lys1551Arg) c.4715A>G (p.Lys1572Arg) c.4712A>G (p.Lys1571Arg) c.4658A>G (p.Lys1553Arg) c.4583A>G (p.Lys1528Arg) c.4178A>G (p.Lys1393Arg) c.3536A>G (p.Lys1179Arg) c.1046A>G (p.Lys349Arg) n.4961A>G | gnomAD v3 gnomAD v4 |
| 10 | g.71740856A>T | CA377160414 | CDH23 | c.4523A>T (p.Lys1508Met) c.4538A>T (p.Lys1513Met) n.1212A>T c.4718A>T (p.Lys1573Met) c.4652A>T (p.Lys1551Met) c.4715A>T (p.Lys1572Met) c.4712A>T (p.Lys1571Met) c.4658A>T (p.Lys1553Met) c.4583A>T (p.Lys1528Met) c.4178A>T (p.Lys1393Met) c.3536A>T (p.Lys1179Met) c.1046A>T (p.Lys349Met) n.4961A>T | |
| 10 | g.71740857G>A | CA470069208 | CDH23 | c.4524G>A (p.Lys1508=) c.4539G>A (p.Lys1513=) n.1213G>A c.4719G>A (p.Lys1573=) c.4653G>A (p.Lys1551=) c.4716G>A (p.Lys1572=) c.4713G>A (p.Lys1571=) c.4659G>A (p.Lys1553=) c.4584G>A (p.Lys1528=) c.4179G>A (p.Lys1393=) c.3537G>A (p.Lys1179=) c.1047G>A (p.Lys349=) n.4962G>A | ClinVar dbSNP |
| 10 | g.71740857G>C | CA377160420 | CDH23 | c.4524G>C (p.Lys1508Asn) c.4539G>C (p.Lys1513Asn) n.1213G>C c.4719G>C (p.Lys1573Asn) c.4653G>C (p.Lys1551Asn) c.4716G>C (p.Lys1572Asn) c.4713G>C (p.Lys1571Asn) c.4659G>C (p.Lys1553Asn) c.4584G>C (p.Lys1528Asn) c.4179G>C (p.Lys1393Asn) c.3537G>C (p.Lys1179Asn) c.1047G>C (p.Lys349Asn) n.4962G>C | |
| 10 | g.71740857G= | CA1918853839 | CDH23 | c.4524G= (p.Lys1508=) c.4539G= (p.Lys1513=) n.1213G= c.4719G= (p.Lys1573=) c.4653G= (p.Lys1551=) c.4716G= (p.Lys1572=) c.4713G= (p.Lys1571=) c.4659G= (p.Lys1553=) c.4584G= (p.Lys1528=) c.4179G= (p.Lys1393=) c.3537G= (p.Lys1179=) c.1047G= (p.Lys349=) n.4962G= | |
| 10 | g.71740857G>T | CA377160423 | CDH23 | c.4524G>T (p.Lys1508Asn) c.4539G>T (p.Lys1513Asn) n.1213G>T c.4719G>T (p.Lys1573Asn) c.4653G>T (p.Lys1551Asn) c.4716G>T (p.Lys1572Asn) c.4713G>T (p.Lys1571Asn) c.4659G>T (p.Lys1553Asn) c.4584G>T (p.Lys1528Asn) c.4179G>T (p.Lys1393Asn) c.3537G>T (p.Lys1179Asn) c.1047G>T (p.Lys349Asn) n.4962G>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71740858A>C | CA377160425 | CDH23 | c.4525A>C (p.Lys1509Gln) c.4540A>C (p.Lys1514Gln) n.1214A>C c.4720A>C (p.Lys1574Gln) c.4654A>C (p.Lys1552Gln) c.4717A>C (p.Lys1573Gln) c.4714A>C (p.Lys1572Gln) c.4660A>C (p.Lys1554Gln) c.4585A>C (p.Lys1529Gln) c.4180A>C (p.Lys1394Gln) c.3538A>C (p.Lys1180Gln) c.1048A>C (p.Lys350Gln) n.4963A>C | |
| 10 | g.71740858A>G | CA377160426 | CDH23 | c.4525A>G (p.Lys1509Glu) c.4540A>G (p.Lys1514Glu) n.1214A>G c.4720A>G (p.Lys1574Glu) c.4654A>G (p.Lys1552Glu) c.4717A>G (p.Lys1573Glu) c.4714A>G (p.Lys1572Glu) c.4660A>G (p.Lys1554Glu) c.4585A>G (p.Lys1529Glu) c.4180A>G (p.Lys1394Glu) c.3538A>G (p.Lys1180Glu) c.1048A>G (p.Lys350Glu) n.4963A>G | |
| 10 | g.71740858A>T | CA377160429 | CDH23 | c.4525A>T (p.Lys1509Ter) c.4540A>T (p.Lys1514Ter) n.1214A>T c.4720A>T (p.Lys1574Ter) c.4654A>T (p.Lys1552Ter) c.4717A>T (p.Lys1573Ter) c.4714A>T (p.Lys1572Ter) c.4660A>T (p.Lys1554Ter) c.4585A>T (p.Lys1529Ter) c.4180A>T (p.Lys1394Ter) c.3538A>T (p.Lys1180Ter) c.1048A>T (p.Lys350Ter) n.4963A>T | |
| 10 | g.71740859A>C | CA377160432 | CDH23 | c.4526A>C (p.Lys1509Thr) c.4541A>C (p.Lys1514Thr) n.1215A>C c.4721A>C (p.Lys1574Thr) c.4655A>C (p.Lys1552Thr) c.4718A>C (p.Lys1573Thr) c.4715A>C (p.Lys1572Thr) c.4661A>C (p.Lys1554Thr) c.4586A>C (p.Lys1529Thr) c.4181A>C (p.Lys1394Thr) c.3539A>C (p.Lys1180Thr) c.1049A>C (p.Lys350Thr) n.4964A>C | gnomAD v4 |
| 10 | g.71740859A>G | CA377160434 | CDH23 | c.4526A>G (p.Lys1509Arg) c.4541A>G (p.Lys1514Arg) n.1215A>G c.4721A>G (p.Lys1574Arg) c.4655A>G (p.Lys1552Arg) c.4718A>G (p.Lys1573Arg) c.4715A>G (p.Lys1572Arg) c.4661A>G (p.Lys1554Arg) c.4586A>G (p.Lys1529Arg) c.4181A>G (p.Lys1394Arg) c.3539A>G (p.Lys1180Arg) c.1049A>G (p.Lys350Arg) n.4964A>G | |
| 10 | g.71740859A>T | CA377160436 | CDH23 | c.4526A>T (p.Lys1509Met) c.4541A>T (p.Lys1514Met) n.1215A>T c.4721A>T (p.Lys1574Met) c.4655A>T (p.Lys1552Met) c.4718A>T (p.Lys1573Met) c.4715A>T (p.Lys1572Met) c.4661A>T (p.Lys1554Met) c.4586A>T (p.Lys1529Met) c.4181A>T (p.Lys1394Met) c.3539A>T (p.Lys1180Met) c.1049A>T (p.Lys350Met) n.4964A>T | |
| 10 | g.71740860G>A | CA470069209 | CDH23 | c.4527G>A (p.Lys1509=) c.4542G>A (p.Lys1514=) n.1216G>A c.4722G>A (p.Lys1574=) c.4656G>A (p.Lys1552=) c.4719G>A (p.Lys1573=) c.4716G>A (p.Lys1572=) c.4662G>A (p.Lys1554=) c.4587G>A (p.Lys1529=) c.4182G>A (p.Lys1394=) c.3540G>A (p.Lys1180=) c.1050G>A (p.Lys350=) n.4965G>A | dbSNP |
| 10 | g.71740860G>C | CA377160438 | CDH23 | c.4527G>C (p.Lys1509Asn) c.4542G>C (p.Lys1514Asn) n.1216G>C c.4722G>C (p.Lys1574Asn) c.4656G>C (p.Lys1552Asn) c.4719G>C (p.Lys1573Asn) c.4716G>C (p.Lys1572Asn) c.4662G>C (p.Lys1554Asn) c.4587G>C (p.Lys1529Asn) c.4182G>C (p.Lys1394Asn) c.3540G>C (p.Lys1180Asn) c.1050G>C (p.Lys350Asn) n.4965G>C | gnomAD v3 gnomAD v4 |
| 10 | g.71740860G>T | CA377160440 | CDH23 | c.4527G>T (p.Lys1509Asn) c.4542G>T (p.Lys1514Asn) n.1216G>T c.4722G>T (p.Lys1574Asn) c.4656G>T (p.Lys1552Asn) c.4719G>T (p.Lys1573Asn) c.4716G>T (p.Lys1572Asn) c.4662G>T (p.Lys1554Asn) c.4587G>T (p.Lys1529Asn) c.4182G>T (p.Lys1394Asn) c.3540G>T (p.Lys1180Asn) c.1050G>T (p.Lys350Asn) n.4965G>T | |
| 10 | g.71740861G>A | CA377160442 | CDH23 | c.4528G>A (p.Asp1510Asn) c.4543G>A (p.Asp1515Asn) n.1217G>A c.4723G>A (p.Asp1575Asn) c.4657G>A (p.Asp1553Asn) c.4720G>A (p.Asp1574Asn) c.4717G>A (p.Asp1573Asn) c.4663G>A (p.Asp1555Asn) c.4588G>A (p.Asp1530Asn) c.4183G>A (p.Asp1395Asn) c.3541G>A (p.Asp1181Asn) c.1051G>A (p.Asp351Asn) n.4966G>A | COSMIC COSMIC |
| 10 | g.71740861G>C | CA377160444 | CDH23 | c.4528G>C (p.Asp1510His) c.4543G>C (p.Asp1515His) n.1217G>C c.4723G>C (p.Asp1575His) c.4657G>C (p.Asp1553His) c.4720G>C (p.Asp1574His) c.4717G>C (p.Asp1573His) c.4663G>C (p.Asp1555His) c.4588G>C (p.Asp1530His) c.4183G>C (p.Asp1395His) c.3541G>C (p.Asp1181His) c.1051G>C (p.Asp351His) n.4966G>C | |
| 10 | g.71740861G>T | CA377160445 | CDH23 | c.4528G>T (p.Asp1510Tyr) c.4543G>T (p.Asp1515Tyr) n.1217G>T c.4723G>T (p.Asp1575Tyr) c.4657G>T (p.Asp1553Tyr) c.4720G>T (p.Asp1574Tyr) c.4717G>T (p.Asp1573Tyr) c.4663G>T (p.Asp1555Tyr) c.4588G>T (p.Asp1530Tyr) c.4183G>T (p.Asp1395Tyr) c.3541G>T (p.Asp1181Tyr) c.1051G>T (p.Asp351Tyr) n.4966G>T | |
| 10 | g.71740862A>C | CA377160447 | CDH23 | c.4529A>C (p.Asp1510Ala) c.4544A>C (p.Asp1515Ala) n.1218A>C c.4724A>C (p.Asp1575Ala) c.4658A>C (p.Asp1553Ala) c.4721A>C (p.Asp1574Ala) c.4718A>C (p.Asp1573Ala) c.4664A>C (p.Asp1555Ala) c.4589A>C (p.Asp1530Ala) c.4184A>C (p.Asp1395Ala) c.3542A>C (p.Asp1181Ala) c.1052A>C (p.Asp351Ala) n.4967A>C | |
| 10 | g.71740862A>G | CA377160449 | CDH23 | c.4529A>G (p.Asp1510Gly) c.4544A>G (p.Asp1515Gly) n.1218A>G c.4724A>G (p.Asp1575Gly) c.4658A>G (p.Asp1553Gly) c.4721A>G (p.Asp1574Gly) c.4718A>G (p.Asp1573Gly) c.4664A>G (p.Asp1555Gly) c.4589A>G (p.Asp1530Gly) c.4184A>G (p.Asp1395Gly) c.3542A>G (p.Asp1181Gly) c.1052A>G (p.Asp351Gly) n.4967A>G | |
| 10 | g.71740862A>T | CA377160446 | CDH23 | c.4529A>T (p.Asp1510Val) c.4544A>T (p.Asp1515Val) n.1218A>T c.4724A>T (p.Asp1575Val) c.4658A>T (p.Asp1553Val) c.4721A>T (p.Asp1574Val) c.4718A>T (p.Asp1573Val) c.4664A>T (p.Asp1555Val) c.4589A>T (p.Asp1530Val) c.4184A>T (p.Asp1395Val) c.3542A>T (p.Asp1181Val) c.1052A>T (p.Asp351Val) n.4967A>T | |
| 10 | g.71740863C>A | CA377160452 | CDH23 | c.4530C>A (p.Asp1510Glu) c.4545C>A (p.Asp1515Glu) n.1219C>A c.4725C>A (p.Asp1575Glu) c.4659C>A (p.Asp1553Glu) c.4722C>A (p.Asp1574Glu) c.4719C>A (p.Asp1573Glu) c.4665C>A (p.Asp1555Glu) c.4590C>A (p.Asp1530Glu) c.4185C>A (p.Asp1395Glu) c.3543C>A (p.Asp1181Glu) c.1053C>A (p.Asp351Glu) n.4968C>A | |
| 10 | g.71740863C>G | CA377160451 | CDH23 | c.4530C>G (p.Asp1510Glu) c.4545C>G (p.Asp1515Glu) n.1219C>G c.4725C>G (p.Asp1575Glu) c.4659C>G (p.Asp1553Glu) c.4722C>G (p.Asp1574Glu) c.4719C>G (p.Asp1573Glu) c.4665C>G (p.Asp1555Glu) c.4590C>G (p.Asp1530Glu) c.4185C>G (p.Asp1395Glu) c.3543C>G (p.Asp1181Glu) c.1053C>G (p.Asp351Glu) n.4968C>G | |
| 10 | g.71740863C>T | CA470069210 | CDH23 | c.4530C>T (p.Asp1510=) c.4545C>T (p.Asp1515=) n.1219C>T c.4725C>T (p.Asp1575=) c.4659C>T (p.Asp1553=) c.4722C>T (p.Asp1574=) c.4719C>T (p.Asp1573=) c.4665C>T (p.Asp1555=) c.4590C>T (p.Asp1530=) c.4185C>T (p.Asp1395=) c.3543C>T (p.Asp1181=) c.1053C>T (p.Asp351=) n.4968C>T | |
| 10 | g.71740864C>A | CA377160455 | CDH23 | c.4531C>A (p.His1511Asn) c.4546C>A (p.His1516Asn) n.1220C>A c.4726C>A (p.His1576Asn) c.4660C>A (p.His1554Asn) c.4723C>A (p.His1575Asn) c.4720C>A (p.His1574Asn) c.4666C>A (p.His1556Asn) c.4591C>A (p.His1531Asn) c.4186C>A (p.His1396Asn) c.3544C>A (p.His1182Asn) c.1054C>A (p.His352Asn) n.4969C>A | |
| 10 | g.71740864C= | CA1918853840 | CDH23 | c.4531C= (p.His1511=) c.4546C= (p.His1516=) n.1220C= c.4726C= (p.His1576=) c.4660C= (p.His1554=) c.4723C= (p.His1575=) c.4720C= (p.His1574=) c.4666C= (p.His1556=) c.4591C= (p.His1531=) c.4186C= (p.His1396=) c.3544C= (p.His1182=) c.1054C= (p.His352=) n.4969C= | |
| 10 | g.71740864C>G | CA5545084 | CDH23 | c.4531C>G (p.His1511Asp) c.4546C>G (p.His1516Asp) n.1220C>G c.4726C>G (p.His1576Asp) c.4660C>G (p.His1554Asp) c.4723C>G (p.His1575Asp) c.4720C>G (p.His1574Asp) c.4666C>G (p.His1556Asp) c.4591C>G (p.His1531Asp) c.4186C>G (p.His1396Asp) c.3544C>G (p.His1182Asp) c.1054C>G (p.His352Asp) n.4969C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71740864C>T | CA377160456 | CDH23 | c.4531C>T (p.His1511Tyr) c.4546C>T (p.His1516Tyr) n.1220C>T c.4726C>T (p.His1576Tyr) c.4660C>T (p.His1554Tyr) c.4723C>T (p.His1575Tyr) c.4720C>T (p.His1574Tyr) c.4666C>T (p.His1556Tyr) c.4591C>T (p.His1531Tyr) c.4186C>T (p.His1396Tyr) c.3544C>T (p.His1182Tyr) c.1054C>T (p.His352Tyr) n.4969C>T | dbSNP |
| 10 | g.71740865A= | CA1918853841 | CDH23 | c.4532A= (p.His1511=) c.4547A= (p.His1516=) n.1221A= c.4727A= (p.His1576=) c.4661A= (p.His1554=) c.4724A= (p.His1575=) c.4721A= (p.His1574=) c.4667A= (p.His1556=) c.4592A= (p.His1531=) c.4187A= (p.His1396=) c.3545A= (p.His1182=) c.1055A= (p.His352=) n.4970A= | |
| 10 | g.71740865A>C | CA377160457 | CDH23 | c.4532A>C (p.His1511Pro) c.4547A>C (p.His1516Pro) n.1221A>C c.4727A>C (p.His1576Pro) c.4661A>C (p.His1554Pro) c.4724A>C (p.His1575Pro) c.4721A>C (p.His1574Pro) c.4667A>C (p.His1556Pro) c.4592A>C (p.His1531Pro) c.4187A>C (p.His1396Pro) c.3545A>C (p.His1182Pro) c.1055A>C (p.His352Pro) n.4970A>C | |
| 10 | g.71740865A>G | CA377160460 | CDH23 | c.4532A>G (p.His1511Arg) c.4547A>G (p.His1516Arg) n.1221A>G c.4727A>G (p.His1576Arg) c.4661A>G (p.His1554Arg) c.4724A>G (p.His1575Arg) c.4721A>G (p.His1574Arg) c.4667A>G (p.His1556Arg) c.4592A>G (p.His1531Arg) c.4187A>G (p.His1396Arg) c.3545A>G (p.His1182Arg) c.1055A>G (p.His352Arg) n.4970A>G | dbSNP gnomAD v4 |
| 10 | g.71740865A>T | CA377160458 | CDH23 | c.4532A>T (p.His1511Leu) c.4547A>T (p.His1516Leu) n.1221A>T c.4727A>T (p.His1576Leu) c.4661A>T (p.His1554Leu) c.4724A>T (p.His1575Leu) c.4721A>T (p.His1574Leu) c.4667A>T (p.His1556Leu) c.4592A>T (p.His1531Leu) c.4187A>T (p.His1396Leu) c.3545A>T (p.His1182Leu) c.1055A>T (p.His352Leu) n.4970A>T | |
| 10 | g.71740866C>A | CA377160462 | CDH23 | c.4533C>A (p.His1511Gln) c.4548C>A (p.His1516Gln) n.1222C>A c.4728C>A (p.His1576Gln) c.4662C>A (p.His1554Gln) c.4725C>A (p.His1575Gln) c.4722C>A (p.His1574Gln) c.4668C>A (p.His1556Gln) c.4593C>A (p.His1531Gln) c.4188C>A (p.His1396Gln) c.3546C>A (p.His1182Gln) c.1056C>A (p.His352Gln) n.4971C>A | |
| 10 | g.71740866C>G | CA377160464 | CDH23 | c.4533C>G (p.His1511Gln) c.4548C>G (p.His1516Gln) n.1222C>G c.4728C>G (p.His1576Gln) c.4662C>G (p.His1554Gln) c.4725C>G (p.His1575Gln) c.4722C>G (p.His1574Gln) c.4668C>G (p.His1556Gln) c.4593C>G (p.His1531Gln) c.4188C>G (p.His1396Gln) c.3546C>G (p.His1182Gln) c.1056C>G (p.His352Gln) n.4971C>G | |
| 10 | g.71740866C>T | CA470069211 | CDH23 | c.4533C>T (p.His1511=) c.4548C>T (p.His1516=) n.1222C>T c.4728C>T (p.His1576=) c.4662C>T (p.His1554=) c.4725C>T (p.His1575=) c.4722C>T (p.His1574=) c.4668C>T (p.His1556=) c.4593C>T (p.His1531=) c.4188C>T (p.His1396=) c.3546C>T (p.His1182=) c.1056C>T (p.His352=) n.4971C>T | |
| 10 | g.71740867A= | CA1918853842 | CDH23 | c.4534A= (p.Ile1512=) c.4549A= (p.Ile1517=) n.1223A= c.4729A= (p.Ile1577=) c.4663A= (p.Ile1555=) c.4726A= (p.Ile1576=) c.4723A= (p.Ile1575=) c.4669A= (p.Ile1557=) c.4594A= (p.Ile1532=) c.4189A= (p.Ile1397=) c.3547A= (p.Ile1183=) c.1057A= (p.Ile353=) n.4972A= | |
| 10 | g.71740867A>C | CA377160465 | CDH23 | c.4534A>C (p.Ile1512Leu) c.4549A>C (p.Ile1517Leu) n.1223A>C c.4729A>C (p.Ile1577Leu) c.4663A>C (p.Ile1555Leu) c.4726A>C (p.Ile1576Leu) c.4723A>C (p.Ile1575Leu) c.4669A>C (p.Ile1557Leu) c.4594A>C (p.Ile1532Leu) c.4189A>C (p.Ile1397Leu) c.3547A>C (p.Ile1183Leu) c.1057A>C (p.Ile353Leu) n.4972A>C | |
| 10 | g.71740867A>G | CA377160466 | CDH23 | c.4534A>G (p.Ile1512Val) c.4549A>G (p.Ile1517Val) n.1223A>G c.4729A>G (p.Ile1577Val) c.4663A>G (p.Ile1555Val) c.4726A>G (p.Ile1576Val) c.4723A>G (p.Ile1575Val) c.4669A>G (p.Ile1557Val) c.4594A>G (p.Ile1532Val) c.4189A>G (p.Ile1397Val) c.3547A>G (p.Ile1183Val) c.1057A>G (p.Ile353Val) n.4972A>G | |
| 10 | g.71740867A>T | CA5545085 | CDH23 | c.4534A>T (p.Ile1512Phe) c.4549A>T (p.Ile1517Phe) n.1223A>T c.4729A>T (p.Ile1577Phe) c.4663A>T (p.Ile1555Phe) c.4726A>T (p.Ile1576Phe) c.4723A>T (p.Ile1575Phe) c.4669A>T (p.Ile1557Phe) c.4594A>T (p.Ile1532Phe) c.4189A>T (p.Ile1397Phe) c.3547A>T (p.Ile1183Phe) c.1057A>T (p.Ile353Phe) n.4972A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71740868T>A | CA377160470 | CDH23 | c.4535T>A (p.Ile1512Asn) c.4550T>A (p.Ile1517Asn) n.1224T>A c.4730T>A (p.Ile1577Asn) c.4664T>A (p.Ile1555Asn) c.4727T>A (p.Ile1576Asn) c.4724T>A (p.Ile1575Asn) c.4670T>A (p.Ile1557Asn) c.4595T>A (p.Ile1532Asn) c.4190T>A (p.Ile1397Asn) c.3548T>A (p.Ile1183Asn) c.1058T>A (p.Ile353Asn) n.4973T>A | dbSNP |
| 10 | g.71740868T>C | CA377160472 | CDH23 | c.4535T>C (p.Ile1512Thr) c.4550T>C (p.Ile1517Thr) n.1224T>C c.4730T>C (p.Ile1577Thr) c.4664T>C (p.Ile1555Thr) c.4727T>C (p.Ile1576Thr) c.4724T>C (p.Ile1575Thr) c.4670T>C (p.Ile1557Thr) c.4595T>C (p.Ile1532Thr) c.4190T>C (p.Ile1397Thr) c.3548T>C (p.Ile1183Thr) c.1058T>C (p.Ile353Thr) n.4973T>C | |
| 10 | g.71740868T>G | CA377160473 | CDH23 | c.4535T>G (p.Ile1512Ser) c.4550T>G (p.Ile1517Ser) n.1224T>G c.4730T>G (p.Ile1577Ser) c.4664T>G (p.Ile1555Ser) c.4727T>G (p.Ile1576Ser) c.4724T>G (p.Ile1575Ser) c.4670T>G (p.Ile1557Ser) c.4595T>G (p.Ile1532Ser) c.4190T>G (p.Ile1397Ser) c.3548T>G (p.Ile1183Ser) c.1058T>G (p.Ile353Ser) n.4973T>G | |
| 10 | g.71740868T= | CA1918853843 | CDH23 | c.4535T= (p.Ile1512=) c.4550T= (p.Ile1517=) n.1224T= c.4730T= (p.Ile1577=) c.4664T= (p.Ile1555=) c.4727T= (p.Ile1576=) c.4724T= (p.Ile1575=) c.4670T= (p.Ile1557=) c.4595T= (p.Ile1532=) c.4190T= (p.Ile1397=) c.3548T= (p.Ile1183=) c.1058T= (p.Ile353=) n.4973T= | |
| 10 | g.71740869C>A | CA5545086 | CDH23 | c.4536C>A (p.Ile1512=) c.4551C>A (p.Ile1517=) n.1225C>A c.4731C>A (p.Ile1577=) c.4665C>A (p.Ile1555=) c.4728C>A (p.Ile1576=) c.4725C>A (p.Ile1575=) c.4671C>A (p.Ile1557=) c.4596C>A (p.Ile1532=) c.4191C>A (p.Ile1397=) c.3549C>A (p.Ile1183=) c.1059C>A (p.Ile353=) n.4974C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |