Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71740842C>ACA470069195CDH23c.4509C>A (p.Gly1503=)
c.4524C>A (p.Gly1508=)
n.1198C>A
c.4704C>A (p.Gly1568=)
c.4638C>A (p.Gly1546=)
c.4701C>A (p.Gly1567=)
c.4698C>A (p.Gly1566=)
c.4644C>A (p.Gly1548=)
c.4569C>A (p.Gly1523=)
c.4164C>A (p.Gly1388=)
c.3522C>A (p.Gly1174=)
c.1032C>A (p.Gly344=)
n.4947C>A
10g.71740842C=CA1918853830CDH23c.4509C= (p.Gly1503=)
c.4524C= (p.Gly1508=)
n.1198C=
c.4704C= (p.Gly1568=)
c.4638C= (p.Gly1546=)
c.4701C= (p.Gly1567=)
c.4698C= (p.Gly1566=)
c.4644C= (p.Gly1548=)
c.4569C= (p.Gly1523=)
c.4164C= (p.Gly1388=)
c.3522C= (p.Gly1174=)
c.1032C= (p.Gly344=)
n.4947C=
10g.71740842C>GCA470069196CDH23c.4509C>G (p.Gly1503=)
c.4524C>G (p.Gly1508=)
n.1198C>G
c.4704C>G (p.Gly1568=)
c.4638C>G (p.Gly1546=)
c.4701C>G (p.Gly1567=)
c.4698C>G (p.Gly1566=)
c.4644C>G (p.Gly1548=)
c.4569C>G (p.Gly1523=)
c.4164C>G (p.Gly1388=)
c.3522C>G (p.Gly1174=)
c.1032C>G (p.Gly344=)
n.4947C>G
dbSNP gnomAD v4
10g.71740842C>TCA137433CDH23c.4509C>T (p.Gly1503=)
c.4524C>T (p.Gly1508=)
n.1198C>T
c.4704C>T (p.Gly1568=)
c.4638C>T (p.Gly1546=)
c.4701C>T (p.Gly1567=)
c.4698C>T (p.Gly1566=)
c.4644C>T (p.Gly1548=)
c.4569C>T (p.Gly1523=)
c.4164C>T (p.Gly1388=)
c.3522C>T (p.Gly1174=)
c.1032C>T (p.Gly344=)
n.4947C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740843A=CA1918853831CDH23c.4510A= (p.Thr1504=)
c.4525A= (p.Thr1509=)
n.1199A=
c.4705A= (p.Thr1569=)
c.4639A= (p.Thr1547=)
c.4702A= (p.Thr1568=)
c.4699A= (p.Thr1567=)
c.4645A= (p.Thr1549=)
c.4570A= (p.Thr1524=)
c.4165A= (p.Thr1389=)
c.3523A= (p.Thr1175=)
c.1033A= (p.Thr345=)
n.4948A=
10g.71740843A>CCA377160373CDH23c.4510A>C (p.Thr1504Pro)
c.4525A>C (p.Thr1509Pro)
n.1199A>C
c.4705A>C (p.Thr1569Pro)
c.4639A>C (p.Thr1547Pro)
c.4702A>C (p.Thr1568Pro)
c.4699A>C (p.Thr1567Pro)
c.4645A>C (p.Thr1549Pro)
c.4570A>C (p.Thr1524Pro)
c.4165A>C (p.Thr1389Pro)
c.3523A>C (p.Thr1175Pro)
c.1033A>C (p.Thr345Pro)
n.4948A>C
dbSNP
10g.71740843A>GCA377160366CDH23c.4510A>G (p.Thr1504Ala)
c.4525A>G (p.Thr1509Ala)
n.1199A>G
c.4705A>G (p.Thr1569Ala)
c.4639A>G (p.Thr1547Ala)
c.4702A>G (p.Thr1568Ala)
c.4699A>G (p.Thr1567Ala)
c.4645A>G (p.Thr1549Ala)
c.4570A>G (p.Thr1524Ala)
c.4165A>G (p.Thr1389Ala)
c.3523A>G (p.Thr1175Ala)
c.1033A>G (p.Thr345Ala)
n.4948A>G
gnomAD v4
10g.71740843A>TCA377160371CDH23c.4510A>T (p.Thr1504Ser)
c.4525A>T (p.Thr1509Ser)
n.1199A>T
c.4705A>T (p.Thr1569Ser)
c.4639A>T (p.Thr1547Ser)
c.4702A>T (p.Thr1568Ser)
c.4699A>T (p.Thr1567Ser)
c.4645A>T (p.Thr1549Ser)
c.4570A>T (p.Thr1524Ser)
c.4165A>T (p.Thr1389Ser)
c.3523A>T (p.Thr1175Ser)
c.1033A>T (p.Thr345Ser)
n.4948A>T
10g.71740844C>ACA377160375CDH23c.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
10g.71740844C>GCA377160376CDH23c.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
10g.71740844C>TCA377160379CDH23c.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
10g.71740845C>ACA470069197CDH23c.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
10g.71740845C=CA1918853832CDH23c.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=
10g.71740845C>GCA184983CDH23c.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
10g.71740845C>TCA470069198CDH23c.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
10g.71740846C>ACA377160385CDH23c.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
10g.71740846C=CA1918853833CDH23c.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=
10g.71740846C>GCA209486282CDH23c.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
10g.71740846C>TCA377160389CDH23c.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
10g.71740847C>ACA377160390CDH23c.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
10g.71740847C=CA1918853834CDH23c.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=
10g.71740847C>GCA377160392CDH23c.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
10g.71740847C>TCA5545081CDH23c.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
10g.71740848T>ACA470069199CDH23c.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
10g.71740848T>CCA470069200CDH23c.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
10g.71740848T>GCA470069201CDH23c.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
10g.71740849C>ACA377160398CDH23c.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
10g.71740849C>GCA377160396CDH23c.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
10g.71740849C>TCA377160394CDH23c.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
10g.71740850C>ACA377160400CDH23c.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
10g.71740850C>GCA377160404CDH23c.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
10g.71740850C>TCA377160405CDH23c.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
10g.71740851A>CCA470069202CDH23c.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
10g.71740851A>GCA470069203CDH23c.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
10g.71740851A>TCA470069204CDH23c.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
10g.71740851dupCA2739275737CDH23c.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
10g.71740852C>ACA470069205CDH23c.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
10g.71740852C=CA1918853835CDH23c.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=
10g.71740852C>GCA377160406CDH23c.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
10g.71740852C>TCA5545082CDH23c.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
10g.71740853G>ACA5545083CDH23c.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
10g.71740853G>CCA377160407CDH23c.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
10g.71740853G=CA1918853836CDH23c.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=
10g.71740853G>TCA377160408CDH23c.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
10g.71740854G>ACA209486292CDH23c.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
10g.71740854G>CCA470069206CDH23c.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
10g.71740854G=CA1918853837CDH23c.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=
10g.71740854G>TCA470069207CDH23c.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
10g.71740858_71740860delCA2580615506CDH23c.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
10g.71740855A>CCA377160410CDH23c.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

Number of alleles fetched