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.71740844C>A | CA377160375 | CDH23 | c.4511C>A (p.Thr1504Asn) c.4526C>A (p.Thr1509Asn) n.1200C>A c.4706C>A (p.Thr1569Asn) c.4640C>A (p.Thr1547Asn) c.4703C>A (p.Thr1568Asn) c.4700C>A (p.Thr1567Asn) c.4646C>A (p.Thr1549Asn) c.4571C>A (p.Thr1524Asn) c.4166C>A (p.Thr1389Asn) c.3524C>A (p.Thr1175Asn) c.1034C>A (p.Thr345Asn) n.4949C>A | |
| 10 | g.71740844C>G | CA377160376 | CDH23 | c.4511C>G (p.Thr1504Ser) c.4526C>G (p.Thr1509Ser) n.1200C>G c.4706C>G (p.Thr1569Ser) c.4640C>G (p.Thr1547Ser) c.4703C>G (p.Thr1568Ser) c.4700C>G (p.Thr1567Ser) c.4646C>G (p.Thr1549Ser) c.4571C>G (p.Thr1524Ser) c.4166C>G (p.Thr1389Ser) c.3524C>G (p.Thr1175Ser) c.1034C>G (p.Thr345Ser) n.4949C>G | |
| 10 | g.71740844C>T | CA377160379 | CDH23 | c.4511C>T (p.Thr1504Ile) c.4526C>T (p.Thr1509Ile) n.1200C>T c.4706C>T (p.Thr1569Ile) c.4640C>T (p.Thr1547Ile) c.4703C>T (p.Thr1568Ile) c.4700C>T (p.Thr1567Ile) c.4646C>T (p.Thr1549Ile) c.4571C>T (p.Thr1524Ile) c.4166C>T (p.Thr1389Ile) c.3524C>T (p.Thr1175Ile) c.1034C>T (p.Thr345Ile) n.4949C>T | gnomAD v4 |
| 10 | g.71740845C>A | CA470069197 | CDH23 | c.4512C>A (p.Thr1504=) c.4527C>A (p.Thr1509=) n.1201C>A c.4707C>A (p.Thr1569=) c.4641C>A (p.Thr1547=) c.4704C>A (p.Thr1568=) c.4701C>A (p.Thr1567=) c.4647C>A (p.Thr1549=) c.4572C>A (p.Thr1524=) c.4167C>A (p.Thr1389=) c.3525C>A (p.Thr1175=) c.1035C>A (p.Thr345=) n.4950C>A | ClinVar |
| 10 | g.71740845C= | CA1918853832 | CDH23 | c.4512C= (p.Thr1504=) c.4527C= (p.Thr1509=) n.1201C= c.4707C= (p.Thr1569=) c.4641C= (p.Thr1547=) c.4704C= (p.Thr1568=) c.4701C= (p.Thr1567=) c.4647C= (p.Thr1549=) c.4572C= (p.Thr1524=) c.4167C= (p.Thr1389=) c.3525C= (p.Thr1175=) c.1035C= (p.Thr345=) n.4950C= | |
| 10 | g.71740845C>G | CA184983 | CDH23 | c.4512C>G (p.Thr1504=) c.4527C>G (p.Thr1509=) n.1201C>G c.4707C>G (p.Thr1569=) c.4641C>G (p.Thr1547=) c.4704C>G (p.Thr1568=) c.4701C>G (p.Thr1567=) c.4647C>G (p.Thr1549=) c.4572C>G (p.Thr1524=) c.4167C>G (p.Thr1389=) c.3525C>G (p.Thr1175=) c.1035C>G (p.Thr345=) n.4950C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71740845C>T | CA470069198 | CDH23 | c.4512C>T (p.Thr1504=) c.4527C>T (p.Thr1509=) n.1201C>T c.4707C>T (p.Thr1569=) c.4641C>T (p.Thr1547=) c.4704C>T (p.Thr1568=) c.4701C>T (p.Thr1567=) c.4647C>T (p.Thr1549=) c.4572C>T (p.Thr1524=) c.4167C>T (p.Thr1389=) c.3525C>T (p.Thr1175=) c.1035C>T (p.Thr345=) n.4950C>T | ClinVar dbSNP |
| 10 | g.71740846C>A | CA377160385 | CDH23 | c.4513C>A (p.Pro1505Thr) c.4528C>A (p.Pro1510Thr) n.1202C>A c.4708C>A (p.Pro1570Thr) c.4642C>A (p.Pro1548Thr) c.4705C>A (p.Pro1569Thr) c.4702C>A (p.Pro1568Thr) c.4648C>A (p.Pro1550Thr) c.4573C>A (p.Pro1525Thr) c.4168C>A (p.Pro1390Thr) c.3526C>A (p.Pro1176Thr) c.1036C>A (p.Pro346Thr) n.4951C>A | |
| 10 | g.71740846C= | CA1918853833 | CDH23 | c.4513C= (p.Pro1505=) c.4528C= (p.Pro1510=) n.1202C= c.4708C= (p.Pro1570=) c.4642C= (p.Pro1548=) c.4705C= (p.Pro1569=) c.4702C= (p.Pro1568=) c.4648C= (p.Pro1550=) c.4573C= (p.Pro1525=) c.4168C= (p.Pro1390=) c.3526C= (p.Pro1176=) c.1036C= (p.Pro346=) n.4951C= | |
| 10 | g.71740846C>G | CA209486282 | CDH23 | c.4513C>G (p.Pro1505Ala) c.4528C>G (p.Pro1510Ala) n.1202C>G c.4708C>G (p.Pro1570Ala) c.4642C>G (p.Pro1548Ala) c.4705C>G (p.Pro1569Ala) c.4702C>G (p.Pro1568Ala) c.4648C>G (p.Pro1550Ala) c.4573C>G (p.Pro1525Ala) c.4168C>G (p.Pro1390Ala) c.3526C>G (p.Pro1176Ala) c.1036C>G (p.Pro346Ala) n.4951C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71740846C>T | CA377160389 | CDH23 | c.4513C>T (p.Pro1505Ser) c.4528C>T (p.Pro1510Ser) n.1202C>T c.4708C>T (p.Pro1570Ser) c.4642C>T (p.Pro1548Ser) c.4705C>T (p.Pro1569Ser) c.4702C>T (p.Pro1568Ser) c.4648C>T (p.Pro1550Ser) c.4573C>T (p.Pro1525Ser) c.4168C>T (p.Pro1390Ser) c.3526C>T (p.Pro1176Ser) c.1036C>T (p.Pro346Ser) n.4951C>T | gnomAD v4 |
| 10 | g.71740847C>A | CA377160390 | CDH23 | c.4514C>A (p.Pro1505His) c.4529C>A (p.Pro1510His) n.1203C>A c.4709C>A (p.Pro1570His) c.4643C>A (p.Pro1548His) c.4706C>A (p.Pro1569His) c.4703C>A (p.Pro1568His) c.4649C>A (p.Pro1550His) c.4574C>A (p.Pro1525His) c.4169C>A (p.Pro1390His) c.3527C>A (p.Pro1176His) c.1037C>A (p.Pro346His) n.4952C>A | |
| 10 | g.71740847C= | CA1918853834 | CDH23 | c.4514C= (p.Pro1505=) c.4529C= (p.Pro1510=) n.1203C= c.4709C= (p.Pro1570=) c.4643C= (p.Pro1548=) c.4706C= (p.Pro1569=) c.4703C= (p.Pro1568=) c.4649C= (p.Pro1550=) c.4574C= (p.Pro1525=) c.4169C= (p.Pro1390=) c.3527C= (p.Pro1176=) c.1037C= (p.Pro346=) n.4952C= | |
| 10 | g.71740847C>G | CA377160392 | CDH23 | c.4514C>G (p.Pro1505Arg) c.4529C>G (p.Pro1510Arg) n.1203C>G c.4709C>G (p.Pro1570Arg) c.4643C>G (p.Pro1548Arg) c.4706C>G (p.Pro1569Arg) c.4703C>G (p.Pro1568Arg) c.4649C>G (p.Pro1550Arg) c.4574C>G (p.Pro1525Arg) c.4169C>G (p.Pro1390Arg) c.3527C>G (p.Pro1176Arg) c.1037C>G (p.Pro346Arg) n.4952C>G | |
| 10 | g.71740847C>T | CA5545081 | CDH23 | c.4514C>T (p.Pro1505Leu) c.4529C>T (p.Pro1510Leu) n.1203C>T c.4709C>T (p.Pro1570Leu) c.4643C>T (p.Pro1548Leu) c.4706C>T (p.Pro1569Leu) c.4703C>T (p.Pro1568Leu) c.4649C>T (p.Pro1550Leu) c.4574C>T (p.Pro1525Leu) c.4169C>T (p.Pro1390Leu) c.3527C>T (p.Pro1176Leu) c.1037C>T (p.Pro346Leu) n.4952C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71740848T>A | CA470069199 | CDH23 | c.4515T>A (p.Pro1505=) c.4530T>A (p.Pro1510=) n.1204T>A c.4710T>A (p.Pro1570=) c.4644T>A (p.Pro1548=) c.4707T>A (p.Pro1569=) c.4704T>A (p.Pro1568=) c.4650T>A (p.Pro1550=) c.4575T>A (p.Pro1525=) c.4170T>A (p.Pro1390=) c.3528T>A (p.Pro1176=) c.1038T>A (p.Pro346=) n.4953T>A | |
| 10 | g.71740848T>C | CA470069200 | CDH23 | c.4515T>C (p.Pro1505=) c.4530T>C (p.Pro1510=) n.1204T>C c.4710T>C (p.Pro1570=) c.4644T>C (p.Pro1548=) c.4707T>C (p.Pro1569=) c.4704T>C (p.Pro1568=) c.4650T>C (p.Pro1550=) c.4575T>C (p.Pro1525=) c.4170T>C (p.Pro1390=) c.3528T>C (p.Pro1176=) c.1038T>C (p.Pro346=) n.4953T>C | |
| 10 | g.71740848T>G | CA470069201 | CDH23 | c.4515T>G (p.Pro1505=) c.4530T>G (p.Pro1510=) n.1204T>G c.4710T>G (p.Pro1570=) c.4644T>G (p.Pro1548=) c.4707T>G (p.Pro1569=) c.4704T>G (p.Pro1568=) c.4650T>G (p.Pro1550=) c.4575T>G (p.Pro1525=) c.4170T>G (p.Pro1390=) c.3528T>G (p.Pro1176=) c.1038T>G (p.Pro346=) n.4953T>G | gnomAD v4 |
| 10 | g.71740849C>A | CA377160398 | CDH23 | c.4516C>A (p.Pro1506Thr) c.4531C>A (p.Pro1511Thr) n.1205C>A c.4711C>A (p.Pro1571Thr) c.4645C>A (p.Pro1549Thr) c.4708C>A (p.Pro1570Thr) c.4705C>A (p.Pro1569Thr) c.4651C>A (p.Pro1551Thr) c.4576C>A (p.Pro1526Thr) c.4171C>A (p.Pro1391Thr) c.3529C>A (p.Pro1177Thr) c.1039C>A (p.Pro347Thr) n.4954C>A | |
| 10 | g.71740849C>G | CA377160396 | CDH23 | c.4516C>G (p.Pro1506Ala) c.4531C>G (p.Pro1511Ala) n.1205C>G c.4711C>G (p.Pro1571Ala) c.4645C>G (p.Pro1549Ala) c.4708C>G (p.Pro1570Ala) c.4705C>G (p.Pro1569Ala) c.4651C>G (p.Pro1551Ala) c.4576C>G (p.Pro1526Ala) c.4171C>G (p.Pro1391Ala) c.3529C>G (p.Pro1177Ala) c.1039C>G (p.Pro347Ala) n.4954C>G | |
| 10 | g.71740849C>T | CA377160394 | CDH23 | c.4516C>T (p.Pro1506Ser) c.4531C>T (p.Pro1511Ser) n.1205C>T c.4711C>T (p.Pro1571Ser) c.4645C>T (p.Pro1549Ser) c.4708C>T (p.Pro1570Ser) c.4705C>T (p.Pro1569Ser) c.4651C>T (p.Pro1551Ser) c.4576C>T (p.Pro1526Ser) c.4171C>T (p.Pro1391Ser) c.3529C>T (p.Pro1177Ser) c.1039C>T (p.Pro347Ser) n.4954C>T | |
| 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 |