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.71740850C>A | CA377160400 | CDH23 | c.4517C>A (p.Pro1506Gln) c.4532C>A (p.Pro1511Gln) n.1206C>A c.4712C>A (p.Pro1571Gln) c.4646C>A (p.Pro1549Gln) c.4709C>A (p.Pro1570Gln) c.4706C>A (p.Pro1569Gln) c.4652C>A (p.Pro1551Gln) c.4577C>A (p.Pro1526Gln) c.4172C>A (p.Pro1391Gln) c.3530C>A (p.Pro1177Gln) c.1040C>A (p.Pro347Gln) n.4955C>A | |
| 10 | g.71740850C>G | CA377160404 | CDH23 | c.4517C>G (p.Pro1506Arg) c.4532C>G (p.Pro1511Arg) n.1206C>G c.4712C>G (p.Pro1571Arg) c.4646C>G (p.Pro1549Arg) c.4709C>G (p.Pro1570Arg) c.4706C>G (p.Pro1569Arg) c.4652C>G (p.Pro1551Arg) c.4577C>G (p.Pro1526Arg) c.4172C>G (p.Pro1391Arg) c.3530C>G (p.Pro1177Arg) c.1040C>G (p.Pro347Arg) n.4955C>G | |
| 10 | g.71740850C>T | CA377160405 | CDH23 | c.4517C>T (p.Pro1506Leu) c.4532C>T (p.Pro1511Leu) n.1206C>T c.4712C>T (p.Pro1571Leu) c.4646C>T (p.Pro1549Leu) c.4709C>T (p.Pro1570Leu) c.4706C>T (p.Pro1569Leu) c.4652C>T (p.Pro1551Leu) c.4577C>T (p.Pro1526Leu) c.4172C>T (p.Pro1391Leu) c.3530C>T (p.Pro1177Leu) c.1040C>T (p.Pro347Leu) n.4955C>T | |
| 10 | g.71740851A>C | CA470069202 | CDH23 | c.4518A>C (p.Pro1506=) c.4533A>C (p.Pro1511=) n.1207A>C c.4713A>C (p.Pro1571=) c.4647A>C (p.Pro1549=) c.4710A>C (p.Pro1570=) c.4707A>C (p.Pro1569=) c.4653A>C (p.Pro1551=) c.4578A>C (p.Pro1526=) c.4173A>C (p.Pro1391=) c.3531A>C (p.Pro1177=) c.1041A>C (p.Pro347=) n.4956A>C | |
| 10 | g.71740851A>G | CA470069203 | CDH23 | c.4518A>G (p.Pro1506=) c.4533A>G (p.Pro1511=) n.1207A>G c.4713A>G (p.Pro1571=) c.4647A>G (p.Pro1549=) c.4710A>G (p.Pro1570=) c.4707A>G (p.Pro1569=) c.4653A>G (p.Pro1551=) c.4578A>G (p.Pro1526=) c.4173A>G (p.Pro1391=) c.3531A>G (p.Pro1177=) c.1041A>G (p.Pro347=) n.4956A>G | |
| 10 | g.71740851A>T | CA470069204 | CDH23 | c.4518A>T (p.Pro1506=) c.4533A>T (p.Pro1511=) n.1207A>T c.4713A>T (p.Pro1571=) c.4647A>T (p.Pro1549=) c.4710A>T (p.Pro1570=) c.4707A>T (p.Pro1569=) c.4653A>T (p.Pro1551=) c.4578A>T (p.Pro1526=) c.4173A>T (p.Pro1391=) c.3531A>T (p.Pro1177=) c.1041A>T (p.Pro347=) n.4956A>T | |
| 10 | g.71740851dup | CA2739275737 | CDH23 | c.4518dup (p.Arg1507ThrfsTer16) c.4533dup (p.Arg1512ThrfsTer16) n.1207dup c.4713dup (p.Arg1572ThrfsTer16) c.4647dup (p.Arg1550ThrfsTer16) c.4710dup (p.Arg1571ThrfsTer16) c.4707dup (p.Arg1570ThrfsTer16) c.4653dup (p.Arg1552ThrfsTer16) c.4578dup (p.Arg1527ThrfsTer16) c.4173dup (p.Arg1392ThrfsTer16) c.3531dup (p.Arg1178ThrfsTer16) c.1041dup (p.Arg348ThrfsTer16) n.4956dup | ClinVar |
| 10 | g.71740852C>A | CA470069205 | CDH23 | c.4519C>A (p.Arg1507=) c.4534C>A (p.Arg1512=) n.1208C>A c.4714C>A (p.Arg1572=) c.4648C>A (p.Arg1550=) c.4711C>A (p.Arg1571=) c.4708C>A (p.Arg1570=) c.4654C>A (p.Arg1552=) c.4579C>A (p.Arg1527=) c.4174C>A (p.Arg1392=) c.3532C>A (p.Arg1178=) c.1042C>A (p.Arg348=) n.4957C>A | dbSNP |
| 10 | g.71740852C= | CA1918853835 | CDH23 | c.4519C= (p.Arg1507=) c.4534C= (p.Arg1512=) n.1208C= c.4714C= (p.Arg1572=) c.4648C= (p.Arg1550=) c.4711C= (p.Arg1571=) c.4708C= (p.Arg1570=) c.4654C= (p.Arg1552=) c.4579C= (p.Arg1527=) c.4174C= (p.Arg1392=) c.3532C= (p.Arg1178=) c.1042C= (p.Arg348=) n.4957C= | |
| 10 | g.71740852C>G | CA377160406 | CDH23 | c.4519C>G (p.Arg1507Gly) c.4534C>G (p.Arg1512Gly) n.1208C>G c.4714C>G (p.Arg1572Gly) c.4648C>G (p.Arg1550Gly) c.4711C>G (p.Arg1571Gly) c.4708C>G (p.Arg1570Gly) c.4654C>G (p.Arg1552Gly) c.4579C>G (p.Arg1527Gly) c.4174C>G (p.Arg1392Gly) c.3532C>G (p.Arg1178Gly) c.1042C>G (p.Arg348Gly) n.4957C>G | |
| 10 | g.71740852C>T | CA5545082 | CDH23 | c.4519C>T (p.Arg1507Trp) c.4534C>T (p.Arg1512Trp) n.1208C>T c.4714C>T (p.Arg1572Trp) c.4648C>T (p.Arg1550Trp) c.4711C>T (p.Arg1571Trp) c.4708C>T (p.Arg1570Trp) c.4654C>T (p.Arg1552Trp) c.4579C>T (p.Arg1527Trp) c.4174C>T (p.Arg1392Trp) c.3532C>T (p.Arg1178Trp) c.1042C>T (p.Arg348Trp) n.4957C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71740853G>A | CA5545083 | CDH23 | c.4520G>A (p.Arg1507Gln) c.4535G>A (p.Arg1512Gln) n.1209G>A c.4715G>A (p.Arg1572Gln) c.4649G>A (p.Arg1550Gln) c.4712G>A (p.Arg1571Gln) c.4709G>A (p.Arg1570Gln) c.4655G>A (p.Arg1552Gln) c.4580G>A (p.Arg1527Gln) c.4175G>A (p.Arg1392Gln) c.3533G>A (p.Arg1178Gln) c.1043G>A (p.Arg348Gln) n.4958G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71740853G>C | CA377160407 | CDH23 | c.4520G>C (p.Arg1507Pro) c.4535G>C (p.Arg1512Pro) n.1209G>C c.4715G>C (p.Arg1572Pro) c.4649G>C (p.Arg1550Pro) c.4712G>C (p.Arg1571Pro) c.4709G>C (p.Arg1570Pro) c.4655G>C (p.Arg1552Pro) c.4580G>C (p.Arg1527Pro) c.4175G>C (p.Arg1392Pro) c.3533G>C (p.Arg1178Pro) c.1043G>C (p.Arg348Pro) n.4958G>C | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71740853G= | CA1918853836 | CDH23 | c.4520G= (p.Arg1507=) c.4535G= (p.Arg1512=) n.1209G= c.4715G= (p.Arg1572=) c.4649G= (p.Arg1550=) c.4712G= (p.Arg1571=) c.4709G= (p.Arg1570=) c.4655G= (p.Arg1552=) c.4580G= (p.Arg1527=) c.4175G= (p.Arg1392=) c.3533G= (p.Arg1178=) c.1043G= (p.Arg348=) n.4958G= | |
| 10 | g.71740853G>T | CA377160408 | CDH23 | c.4520G>T (p.Arg1507Leu) c.4535G>T (p.Arg1512Leu) n.1209G>T c.4715G>T (p.Arg1572Leu) c.4649G>T (p.Arg1550Leu) c.4712G>T (p.Arg1571Leu) c.4709G>T (p.Arg1570Leu) c.4655G>T (p.Arg1552Leu) c.4580G>T (p.Arg1527Leu) c.4175G>T (p.Arg1392Leu) c.3533G>T (p.Arg1178Leu) c.1043G>T (p.Arg348Leu) n.4958G>T | dbSNP gnomAD v4 |
| 10 | g.71740854G>A | CA209486292 | CDH23 | c.4521G>A (p.Arg1507=) c.4536G>A (p.Arg1512=) n.1210G>A c.4716G>A (p.Arg1572=) c.4650G>A (p.Arg1550=) c.4713G>A (p.Arg1571=) c.4710G>A (p.Arg1570=) c.4656G>A (p.Arg1552=) c.4581G>A (p.Arg1527=) c.4176G>A (p.Arg1392=) c.3534G>A (p.Arg1178=) c.1044G>A (p.Arg348=) n.4959G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71740854G>C | CA470069206 | CDH23 | c.4521G>C (p.Arg1507=) c.4536G>C (p.Arg1512=) n.1210G>C c.4716G>C (p.Arg1572=) c.4650G>C (p.Arg1550=) c.4713G>C (p.Arg1571=) c.4710G>C (p.Arg1570=) c.4656G>C (p.Arg1552=) c.4581G>C (p.Arg1527=) c.4176G>C (p.Arg1392=) c.3534G>C (p.Arg1178=) c.1044G>C (p.Arg348=) n.4959G>C | dbSNP |
| 10 | g.71740854G= | CA1918853837 | CDH23 | c.4521G= (p.Arg1507=) c.4536G= (p.Arg1512=) n.1210G= c.4716G= (p.Arg1572=) c.4650G= (p.Arg1550=) c.4713G= (p.Arg1571=) c.4710G= (p.Arg1570=) c.4656G= (p.Arg1552=) c.4581G= (p.Arg1527=) c.4176G= (p.Arg1392=) c.3534G= (p.Arg1178=) c.1044G= (p.Arg348=) n.4959G= | |
| 10 | g.71740854G>T | CA470069207 | CDH23 | c.4521G>T (p.Arg1507=) c.4536G>T (p.Arg1512=) n.1210G>T c.4716G>T (p.Arg1572=) c.4650G>T (p.Arg1550=) c.4713G>T (p.Arg1571=) c.4710G>T (p.Arg1570=) c.4656G>T (p.Arg1552=) c.4581G>T (p.Arg1527=) c.4176G>T (p.Arg1392=) c.3534G>T (p.Arg1178=) c.1044G>T (p.Arg348=) n.4959G>T | |
| 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 |