Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
 ClinVar
10g.71740859A>CCA377160432CDH23c.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
10g.71740859A>GCA377160434CDH23c.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
10g.71740859A>TCA377160436CDH23c.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
10g.71740860G>ACA470069209CDH23c.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
10g.71740860G>CCA377160438CDH23c.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
10g.71740860G>TCA377160440CDH23c.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
10g.71740861G>ACA377160442CDH23c.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
10g.71740861G>CCA377160444CDH23c.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
10g.71740861G>TCA377160445CDH23c.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
10g.71740862A>CCA377160447CDH23c.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
10g.71740862A>GCA377160449CDH23c.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
10g.71740862A>TCA377160446CDH23c.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
10g.71740863C>ACA377160452CDH23c.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
10g.71740863C>GCA377160451CDH23c.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
10g.71740863C>TCA470069210CDH23c.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
10g.71740864C>ACA377160455CDH23c.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
10g.71740864C=CA1918853840CDH23c.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=
10g.71740864C>GCA5545084CDH23c.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
10g.71740864C>TCA377160456CDH23c.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
10g.71740865A=CA1918853841CDH23c.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=
10g.71740865A>CCA377160457CDH23c.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
10g.71740865A>GCA377160460CDH23c.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
10g.71740865A>TCA377160458CDH23c.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
10g.71740866C>ACA377160462CDH23c.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
10g.71740866C>GCA377160464CDH23c.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
10g.71740866C>TCA470069211CDH23c.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
10g.71740867A=CA1918853842CDH23c.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=
10g.71740867A>CCA377160465CDH23c.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
10g.71740867A>GCA377160466CDH23c.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
10g.71740867A>TCA5545085CDH23c.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
10g.71740868T>ACA377160470CDH23c.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
10g.71740868T>CCA377160472CDH23c.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
10g.71740868T>GCA377160473CDH23c.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
10g.71740868T=CA1918853843CDH23c.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=
10g.71740869C>ACA5545086CDH23c.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
10g.71740869C=CA1918853844CDH23c.4536C= (p.Ile1512=)
c.4551C= (p.Ile1517=)
n.1225C=
c.4731C= (p.Ile1577=)
c.4665C= (p.Ile1555=)
c.4728C= (p.Ile1576=)
c.4725C= (p.Ile1575=)
c.4671C= (p.Ile1557=)
c.4596C= (p.Ile1532=)
c.4191C= (p.Ile1397=)
c.3549C= (p.Ile1183=)
c.1059C= (p.Ile353=)
n.4974C=
10g.71740869C>GCA377160478CDH23c.4536C>G (p.Ile1512Met)
c.4551C>G (p.Ile1517Met)
n.1225C>G
c.4731C>G (p.Ile1577Met)
c.4665C>G (p.Ile1555Met)
c.4728C>G (p.Ile1576Met)
c.4725C>G (p.Ile1575Met)
c.4671C>G (p.Ile1557Met)
c.4596C>G (p.Ile1532Met)
c.4191C>G (p.Ile1397Met)
c.3549C>G (p.Ile1183Met)
c.1059C>G (p.Ile353Met)
n.4974C>G
 dbSNP
10g.71740869C>TCA470069212CDH23c.4536C>T (p.Ile1512=)
c.4551C>T (p.Ile1517=)
n.1225C>T
c.4731C>T (p.Ile1577=)
c.4665C>T (p.Ile1555=)
c.4728C>T (p.Ile1576=)
c.4725C>T (p.Ile1575=)
c.4671C>T (p.Ile1557=)
c.4596C>T (p.Ile1532=)
c.4191C>T (p.Ile1397=)
c.3549C>T (p.Ile1183=)
c.1059C>T (p.Ile353=)
n.4974C>T
 dbSNP
10g.71740870C>ACA377160481CDH23c.4537C>A (p.Leu1513Met)
c.4552C>A (p.Leu1518Met)
n.1226C>A
c.4732C>A (p.Leu1578Met)
c.4666C>A (p.Leu1556Met)
c.4729C>A (p.Leu1577Met)
c.4726C>A (p.Leu1576Met)
c.4672C>A (p.Leu1558Met)
c.4597C>A (p.Leu1533Met)
c.4192C>A (p.Leu1398Met)
c.3550C>A (p.Leu1184Met)
c.1060C>A (p.Leu354Met)
n.4975C>A
10g.71740870C=CA1918853845CDH23c.4537C= (p.Leu1513=)
c.4552C= (p.Leu1518=)
n.1226C=
c.4732C= (p.Leu1578=)
c.4666C= (p.Leu1556=)
c.4729C= (p.Leu1577=)
c.4726C= (p.Leu1576=)
c.4672C= (p.Leu1558=)
c.4597C= (p.Leu1533=)
c.4192C= (p.Leu1398=)
c.3550C= (p.Leu1184=)
c.1060C= (p.Leu354=)
n.4975C=
10g.71740870C>GCA377160483CDH23c.4537C>G (p.Leu1513Val)
c.4552C>G (p.Leu1518Val)
n.1226C>G
c.4732C>G (p.Leu1578Val)
c.4666C>G (p.Leu1556Val)
c.4729C>G (p.Leu1577Val)
c.4726C>G (p.Leu1576Val)
c.4672C>G (p.Leu1558Val)
c.4597C>G (p.Leu1533Val)
c.4192C>G (p.Leu1398Val)
c.3550C>G (p.Leu1184Val)
c.1060C>G (p.Leu354Val)
n.4975C>G
10g.71740870C>TCA470069213CDH23c.4537C>T (p.Leu1513=)
c.4552C>T (p.Leu1518=)
n.1226C>T
c.4732C>T (p.Leu1578=)
c.4666C>T (p.Leu1556=)
c.4729C>T (p.Leu1577=)
c.4726C>T (p.Leu1576=)
c.4672C>T (p.Leu1558=)
c.4597C>T (p.Leu1533=)
c.4192C>T (p.Leu1398=)
c.3550C>T (p.Leu1184=)
c.1060C>T (p.Leu354=)
n.4975C>T
 COSMIC
10g.71740870_71740871insACA668097550CDH23c.4537_4538insA (p.Leu1513HisfsTer10)
c.4552_4553insA (p.Leu1518HisfsTer10)
n.1226_1227insA
c.4732_4733insA (p.Leu1578HisfsTer10)
c.4666_4667insA (p.Leu1556HisfsTer10)
c.4729_4730insA (p.Leu1577HisfsTer10)
c.4726_4727insA (p.Leu1576HisfsTer10)
c.4672_4673insA (p.Leu1558HisfsTer10)
c.4597_4598insA (p.Leu1533HisfsTer10)
c.4192_4193insA (p.Leu1398HisfsTer10)
c.3550_3551insA (p.Leu1184HisfsTer10)
c.1060_1061insA (p.Leu354HisfsTer10)
n.4975_4976insA
 dbSNP
10g.71740871T>ACA377160489CDH23c.4538T>A (p.Leu1513Gln)
c.4553T>A (p.Leu1518Gln)
n.1227T>A
c.4733T>A (p.Leu1578Gln)
c.4667T>A (p.Leu1556Gln)
c.4730T>A (p.Leu1577Gln)
c.4727T>A (p.Leu1576Gln)
c.4673T>A (p.Leu1558Gln)
c.4598T>A (p.Leu1533Gln)
c.4193T>A (p.Leu1398Gln)
c.3551T>A (p.Leu1184Gln)
c.1061T>A (p.Leu354Gln)
n.4976T>A
10g.71740871T>CCA377160487CDH23c.4538T>C (p.Leu1513Pro)
c.4553T>C (p.Leu1518Pro)
n.1227T>C
c.4733T>C (p.Leu1578Pro)
c.4667T>C (p.Leu1556Pro)
c.4730T>C (p.Leu1577Pro)
c.4727T>C (p.Leu1576Pro)
c.4673T>C (p.Leu1558Pro)
c.4598T>C (p.Leu1533Pro)
c.4193T>C (p.Leu1398Pro)
c.3551T>C (p.Leu1184Pro)
c.1061T>C (p.Leu354Pro)
n.4976T>C
 ClinVar dbSNP
10g.71740871T>GCA377160485CDH23c.4538T>G (p.Leu1513Arg)
c.4553T>G (p.Leu1518Arg)
n.1227T>G
c.4733T>G (p.Leu1578Arg)
c.4667T>G (p.Leu1556Arg)
c.4730T>G (p.Leu1577Arg)
c.4727T>G (p.Leu1576Arg)
c.4673T>G (p.Leu1558Arg)
c.4598T>G (p.Leu1533Arg)
c.4193T>G (p.Leu1398Arg)
c.3551T>G (p.Leu1184Arg)
c.1061T>G (p.Leu354Arg)
n.4976T>G
10g.71740871T=CA1918853846CDH23c.4538T= (p.Leu1513=)
c.4553T= (p.Leu1518=)
n.1227T=
c.4733T= (p.Leu1578=)
c.4667T= (p.Leu1556=)
c.4730T= (p.Leu1577=)
c.4727T= (p.Leu1576=)
c.4673T= (p.Leu1558=)
c.4598T= (p.Leu1533=)
c.4193T= (p.Leu1398=)
c.3551T= (p.Leu1184=)
c.1061T= (p.Leu354=)
n.4976T=
10g.71740872G>ACA470069215CDH23c.4539G>A (p.Leu1513=)
c.4554G>A (p.Leu1518=)
n.1228G>A
c.4734G>A (p.Leu1578=)
c.4668G>A (p.Leu1556=)
c.4731G>A (p.Leu1577=)
c.4728G>A (p.Leu1576=)
c.4674G>A (p.Leu1558=)
c.4599G>A (p.Leu1533=)
c.4194G>A (p.Leu1398=)
c.3552G>A (p.Leu1184=)
c.1062G>A (p.Leu354=)
n.4977G>A
 gnomAD v3 gnomAD v4
10g.71740872G>CCA470069216CDH23c.4539G>C (p.Leu1513=)
c.4554G>C (p.Leu1518=)
n.1228G>C
c.4734G>C (p.Leu1578=)
c.4668G>C (p.Leu1556=)
c.4731G>C (p.Leu1577=)
c.4728G>C (p.Leu1576=)
c.4674G>C (p.Leu1558=)
c.4599G>C (p.Leu1533=)
c.4194G>C (p.Leu1398=)
c.3552G>C (p.Leu1184=)
c.1062G>C (p.Leu354=)
n.4977G>C
10g.71740872G>TCA470069217CDH23c.4539G>T (p.Leu1513=)
c.4554G>T (p.Leu1518=)
n.1228G>T
c.4734G>T (p.Leu1578=)
c.4668G>T (p.Leu1556=)
c.4731G>T (p.Leu1577=)
c.4728G>T (p.Leu1576=)
c.4674G>T (p.Leu1558=)
c.4599G>T (p.Leu1533=)
c.4194G>T (p.Leu1398=)
c.3552G>T (p.Leu1184=)
c.1062G>T (p.Leu354=)
n.4977G>T
10g.71740873C>ACA377160491CDH23c.4540C>A (p.Gln1514Lys)
c.4555C>A (p.Gln1519Lys)
n.1229C>A
c.4735C>A (p.Gln1579Lys)
c.4669C>A (p.Gln1557Lys)
c.4732C>A (p.Gln1578Lys)
c.4729C>A (p.Gln1577Lys)
c.4675C>A (p.Gln1559Lys)
c.4600C>A (p.Gln1534Lys)
c.4195C>A (p.Gln1399Lys)
c.3553C>A (p.Gln1185Lys)
c.1063C>A (p.Gln355Lys)
n.4978C>A
10g.71740873C>GCA377160493CDH23c.4540C>G (p.Gln1514Glu)
c.4555C>G (p.Gln1519Glu)
n.1229C>G
c.4735C>G (p.Gln1579Glu)
c.4669C>G (p.Gln1557Glu)
c.4732C>G (p.Gln1578Glu)
c.4729C>G (p.Gln1577Glu)
c.4675C>G (p.Gln1559Glu)
c.4600C>G (p.Gln1534Glu)
c.4195C>G (p.Gln1399Glu)
c.3553C>G (p.Gln1185Glu)
c.1063C>G (p.Gln355Glu)
n.4978C>G
10g.71740873C>TCA377160494CDH23c.4540C>T (p.Gln1514Ter)
c.4555C>T (p.Gln1519Ter)
n.1229C>T
c.4735C>T (p.Gln1579Ter)
c.4669C>T (p.Gln1557Ter)
c.4732C>T (p.Gln1578Ter)
c.4729C>T (p.Gln1577Ter)
c.4675C>T (p.Gln1559Ter)
c.4600C>T (p.Gln1534Ter)
c.4195C>T (p.Gln1399Ter)
c.3553C>T (p.Gln1185Ter)
c.1063C>T (p.Gln355Ter)
n.4978C>T
 dbSNP gnomAD v4
10g.71740874A>CCA377160495CDH23c.4541A>C (p.Gln1514Pro)
c.4556A>C (p.Gln1519Pro)
n.1230A>C
c.4736A>C (p.Gln1579Pro)
c.4670A>C (p.Gln1557Pro)
c.4733A>C (p.Gln1578Pro)
c.4730A>C (p.Gln1577Pro)
c.4676A>C (p.Gln1559Pro)
c.4601A>C (p.Gln1534Pro)
c.4196A>C (p.Gln1399Pro)
c.3554A>C (p.Gln1185Pro)
c.1064A>C (p.Gln355Pro)
n.4979A>C
10g.71740874A>GCA377160496CDH23c.4541A>G (p.Gln1514Arg)
c.4556A>G (p.Gln1519Arg)
n.1230A>G
c.4736A>G (p.Gln1579Arg)
c.4670A>G (p.Gln1557Arg)
c.4733A>G (p.Gln1578Arg)
c.4730A>G (p.Gln1577Arg)
c.4676A>G (p.Gln1559Arg)
c.4601A>G (p.Gln1534Arg)
c.4196A>G (p.Gln1399Arg)
c.3554A>G (p.Gln1185Arg)
c.1064A>G (p.Gln355Arg)
n.4979A>G
10g.71740874A>TCA377160497CDH23c.4541A>T (p.Gln1514Leu)
c.4556A>T (p.Gln1519Leu)
n.1230A>T
c.4736A>T (p.Gln1579Leu)
c.4670A>T (p.Gln1557Leu)
c.4733A>T (p.Gln1578Leu)
c.4730A>T (p.Gln1577Leu)
c.4676A>T (p.Gln1559Leu)
c.4601A>T (p.Gln1534Leu)
c.4196A>T (p.Gln1399Leu)
c.3554A>T (p.Gln1185Leu)
c.1064A>T (p.Gln355Leu)
n.4979A>T
10g.71740875_71740879delCA929779474CDH23c.4542_4546del (p.Gln1514HisfsTer7)
c.4557_4561del (p.Gln1519HisfsTer7)
n.1231_1235del
c.4737_4741del (p.Gln1579HisfsTer7)
c.4671_4675del (p.Gln1557HisfsTer7)
c.4734_4738del (p.Gln1578HisfsTer7)
c.4731_4735del (p.Gln1577HisfsTer7)
c.4677_4681del (p.Gln1559HisfsTer7)
c.4602_4606del (p.Gln1534HisfsTer7)
c.4197_4201del (p.Gln1399HisfsTer7)
c.3555_3559del (p.Gln1185HisfsTer7)
c.1065_1069del (p.Gln355HisfsTer7)
n.4980_4984del
 gnomAD v3 gnomAD v4
10g.71740875G>ACA5545087CDH23c.4542G>A (p.Gln1514=)
c.4557G>A (p.Gln1519=)
n.1231G>A
c.4737G>A (p.Gln1579=)
c.4671G>A (p.Gln1557=)
c.4734G>A (p.Gln1578=)
c.4731G>A (p.Gln1577=)
c.4677G>A (p.Gln1559=)
c.4602G>A (p.Gln1534=)
c.4197G>A (p.Gln1399=)
c.3555G>A (p.Gln1185=)
c.1065G>A (p.Gln355=)
n.4980G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740875G>CCA377160499CDH23c.4542G>C (p.Gln1514His)
c.4557G>C (p.Gln1519His)
n.1231G>C
c.4737G>C (p.Gln1579His)
c.4671G>C (p.Gln1557His)
c.4734G>C (p.Gln1578His)
c.4731G>C (p.Gln1577His)
c.4677G>C (p.Gln1559His)
c.4602G>C (p.Gln1534His)
c.4197G>C (p.Gln1399His)
c.3555G>C (p.Gln1185His)
c.1065G>C (p.Gln355His)
n.4980G>C
10g.71740875G=CA1918853847CDH23c.4542G= (p.Gln1514=)
c.4557G= (p.Gln1519=)
n.1231G=
c.4737G= (p.Gln1579=)
c.4671G= (p.Gln1557=)
c.4734G= (p.Gln1578=)
c.4731G= (p.Gln1577=)
c.4677G= (p.Gln1559=)
c.4602G= (p.Gln1534=)
c.4197G= (p.Gln1399=)
c.3555G= (p.Gln1185=)
c.1065G= (p.Gln355=)
n.4980G=
10g.71740875G>TCA377160500CDH23c.4542G>T (p.Gln1514His)
c.4557G>T (p.Gln1519His)
n.1231G>T
c.4737G>T (p.Gln1579His)
c.4671G>T (p.Gln1557His)
c.4734G>T (p.Gln1578His)
c.4731G>T (p.Gln1577His)
c.4677G>T (p.Gln1559His)
c.4602G>T (p.Gln1534His)
c.4197G>T (p.Gln1399His)
c.3555G>T (p.Gln1185His)
c.1065G>T (p.Gln355His)
n.4980G>T
10g.71740876G>ACA5545088CDH23c.4543G>A (p.Val1515Met)
c.4558G>A (p.Val1520Met)
n.1232G>A
c.4738G>A (p.Val1580Met)
c.4672G>A (p.Val1558Met)
c.4735G>A (p.Val1579Met)
c.4732G>A (p.Val1578Met)
c.4678G>A (p.Val1560Met)
c.4603G>A (p.Val1535Met)
c.4198G>A (p.Val1400Met)
c.3556G>A (p.Val1186Met)
c.1066G>A (p.Val356Met)
n.4981G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71740876G>CCA5545090CDH23c.4543G>C (p.Val1515Leu)
c.4558G>C (p.Val1520Leu)
n.1232G>C
c.4738G>C (p.Val1580Leu)
c.4672G>C (p.Val1558Leu)
c.4735G>C (p.Val1579Leu)
c.4732G>C (p.Val1578Leu)
c.4678G>C (p.Val1560Leu)
c.4603G>C (p.Val1535Leu)
c.4198G>C (p.Val1400Leu)
c.3556G>C (p.Val1186Leu)
c.1066G>C (p.Val356Leu)
n.4981G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71740876G=CA1918853848CDH23c.4543G= (p.Val1515=)
c.4558G= (p.Val1520=)
n.1232G=
c.4738G= (p.Val1580=)
c.4672G= (p.Val1558=)
c.4735G= (p.Val1579=)
c.4732G= (p.Val1578=)
c.4678G= (p.Val1560=)
c.4603G= (p.Val1535=)
c.4198G= (p.Val1400=)
c.3556G= (p.Val1186=)
c.1066G= (p.Val356=)
n.4981G=
10g.71740876G>TCA5545089CDH23c.4543G>T (p.Val1515Leu)
c.4558G>T (p.Val1520Leu)
n.1232G>T
c.4738G>T (p.Val1580Leu)
c.4672G>T (p.Val1558Leu)
c.4735G>T (p.Val1579Leu)
c.4732G>T (p.Val1578Leu)
c.4678G>T (p.Val1560Leu)
c.4603G>T (p.Val1535Leu)
c.4198G>T (p.Val1400Leu)
c.3556G>T (p.Val1186Leu)
c.1066G>T (p.Val356Leu)
n.4981G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71740877T>ACA377160505CDH23c.4544T>A (p.Val1515Glu)
c.4559T>A (p.Val1520Glu)
n.1233T>A
c.4739T>A (p.Val1580Glu)
c.4673T>A (p.Val1558Glu)
c.4736T>A (p.Val1579Glu)
c.4733T>A (p.Val1578Glu)
c.4679T>A (p.Val1560Glu)
c.4604T>A (p.Val1535Glu)
c.4199T>A (p.Val1400Glu)
c.3557T>A (p.Val1186Glu)
c.1067T>A (p.Val356Glu)
n.4982T>A
10g.71740877T>CCA377160506CDH23c.4544T>C (p.Val1515Ala)
c.4559T>C (p.Val1520Ala)
n.1233T>C
c.4739T>C (p.Val1580Ala)
c.4673T>C (p.Val1558Ala)
c.4736T>C (p.Val1579Ala)
c.4733T>C (p.Val1578Ala)
c.4679T>C (p.Val1560Ala)
c.4604T>C (p.Val1535Ala)
c.4199T>C (p.Val1400Ala)
c.3557T>C (p.Val1186Ala)
c.1067T>C (p.Val356Ala)
n.4982T>C
10g.71740877T>GCA377160504CDH23c.4544T>G (p.Val1515Gly)
c.4559T>G (p.Val1520Gly)
n.1233T>G
c.4739T>G (p.Val1580Gly)
c.4673T>G (p.Val1558Gly)
c.4736T>G (p.Val1579Gly)
c.4733T>G (p.Val1578Gly)
c.4679T>G (p.Val1560Gly)
c.4604T>G (p.Val1535Gly)
c.4199T>G (p.Val1400Gly)
c.3557T>G (p.Val1186Gly)
c.1067T>G (p.Val356Gly)
n.4982T>G
 dbSNP
10g.71740878G>ACA470069220CDH23c.4545G>A (p.Val1515=)
c.4560G>A (p.Val1520=)
n.1234G>A
c.4740G>A (p.Val1580=)
c.4674G>A (p.Val1558=)
c.4737G>A (p.Val1579=)
c.4734G>A (p.Val1578=)
c.4680G>A (p.Val1560=)
c.4605G>A (p.Val1535=)
c.4200G>A (p.Val1400=)
c.3558G>A (p.Val1186=)
c.1068G>A (p.Val356=)
n.4983G>A
10g.71740878G>CCA470069219CDH23c.4545G>C (p.Val1515=)
c.4560G>C (p.Val1520=)
n.1234G>C
c.4740G>C (p.Val1580=)
c.4674G>C (p.Val1558=)
c.4737G>C (p.Val1579=)
c.4734G>C (p.Val1578=)
c.4680G>C (p.Val1560=)
c.4605G>C (p.Val1535=)
c.4200G>C (p.Val1400=)
c.3558G>C (p.Val1186=)
c.1068G>C (p.Val356=)
n.4983G>C
10g.71740878G>TCA470069218CDH23c.4545G>T (p.Val1515=)
c.4560G>T (p.Val1520=)
n.1234G>T
c.4740G>T (p.Val1580=)
c.4674G>T (p.Val1558=)
c.4737G>T (p.Val1579=)
c.4734G>T (p.Val1578=)
c.4680G>T (p.Val1560=)
c.4605G>T (p.Val1535=)
c.4200G>T (p.Val1400=)
c.3558G>T (p.Val1186=)
c.1068G>T (p.Val356=)
n.4983G>T
 ClinVar
10g.71740879A>CCA377160510CDH23c.4546A>C (p.Thr1516Pro)
c.4561A>C (p.Thr1521Pro)
n.1235A>C
c.4741A>C (p.Thr1581Pro)
c.4675A>C (p.Thr1559Pro)
c.4738A>C (p.Thr1580Pro)
c.4735A>C (p.Thr1579Pro)
c.4681A>C (p.Thr1561Pro)
c.4606A>C (p.Thr1536Pro)
c.4201A>C (p.Thr1401Pro)
c.3559A>C (p.Thr1187Pro)
c.1069A>C (p.Thr357Pro)
n.4984A>C
10g.71740879A>GCA377160512CDH23c.4546A>G (p.Thr1516Ala)
c.4561A>G (p.Thr1521Ala)
n.1235A>G
c.4741A>G (p.Thr1581Ala)
c.4675A>G (p.Thr1559Ala)
c.4738A>G (p.Thr1580Ala)
c.4735A>G (p.Thr1579Ala)
c.4681A>G (p.Thr1561Ala)
c.4606A>G (p.Thr1536Ala)
c.4201A>G (p.Thr1401Ala)
c.3559A>G (p.Thr1187Ala)
c.1069A>G (p.Thr357Ala)
n.4984A>G
 ClinVar dbSNP gnomAD v4
10g.71740879A>TCA377160514CDH23c.4546A>T (p.Thr1516Ser)
c.4561A>T (p.Thr1521Ser)
n.1235A>T
c.4741A>T (p.Thr1581Ser)
c.4675A>T (p.Thr1559Ser)
c.4738A>T (p.Thr1580Ser)
c.4735A>T (p.Thr1579Ser)
c.4681A>T (p.Thr1561Ser)
c.4606A>T (p.Thr1536Ser)
c.4201A>T (p.Thr1401Ser)
c.3559A>T (p.Thr1187Ser)
c.1069A>T (p.Thr357Ser)
n.4984A>T
10g.71740880C>ACA377160516CDH23c.4547C>A (p.Thr1516Asn)
c.4562C>A (p.Thr1521Asn)
n.1236C>A
c.4742C>A (p.Thr1581Asn)
c.4676C>A (p.Thr1559Asn)
c.4739C>A (p.Thr1580Asn)
c.4736C>A (p.Thr1579Asn)
c.4682C>A (p.Thr1561Asn)
c.4607C>A (p.Thr1536Asn)
c.4202C>A (p.Thr1401Asn)
c.3560C>A (p.Thr1187Asn)
c.1070C>A (p.Thr357Asn)
n.4985C>A
 ClinVar dbSNP
10g.71740880C>GCA377160518CDH23c.4547C>G (p.Thr1516Ser)
c.4562C>G (p.Thr1521Ser)
n.1236C>G
c.4742C>G (p.Thr1581Ser)
c.4676C>G (p.Thr1559Ser)
c.4739C>G (p.Thr1580Ser)
c.4736C>G (p.Thr1579Ser)
c.4682C>G (p.Thr1561Ser)
c.4607C>G (p.Thr1536Ser)
c.4202C>G (p.Thr1401Ser)
c.3560C>G (p.Thr1187Ser)
c.1070C>G (p.Thr357Ser)
n.4985C>G
10g.71740880C>TCA377160521CDH23c.4547C>T (p.Thr1516Ile)
c.4562C>T (p.Thr1521Ile)
n.1236C>T
c.4742C>T (p.Thr1581Ile)
c.4676C>T (p.Thr1559Ile)
c.4739C>T (p.Thr1580Ile)
c.4736C>T (p.Thr1579Ile)
c.4682C>T (p.Thr1561Ile)
c.4607C>T (p.Thr1536Ile)
c.4202C>T (p.Thr1401Ile)
c.3560C>T (p.Thr1187Ile)
c.1070C>T (p.Thr357Ile)
n.4985C>T
 ClinVar gnomAD v4
10g.71740881C>ACA470069223CDH23c.4548C>A (p.Thr1516=)
c.4563C>A (p.Thr1521=)
n.1237C>A
c.4743C>A (p.Thr1581=)
c.4677C>A (p.Thr1559=)
c.4740C>A (p.Thr1580=)
c.4737C>A (p.Thr1579=)
c.4683C>A (p.Thr1561=)
c.4608C>A (p.Thr1536=)
c.4203C>A (p.Thr1401=)
c.3561C>A (p.Thr1187=)
c.1071C>A (p.Thr357=)
n.4986C>A
10g.71740881C=CA1918853849CDH23c.4548C= (p.Thr1516=)
c.4563C= (p.Thr1521=)
n.1237C=
c.4743C= (p.Thr1581=)
c.4677C= (p.Thr1559=)
c.4740C= (p.Thr1580=)
c.4737C= (p.Thr1579=)
c.4683C= (p.Thr1561=)
c.4608C= (p.Thr1536=)
c.4203C= (p.Thr1401=)
c.3561C= (p.Thr1187=)
c.1071C= (p.Thr357=)
n.4986C=
10g.71740881C>GCA470069222CDH23c.4548C>G (p.Thr1516=)
c.4563C>G (p.Thr1521=)
n.1237C>G
c.4743C>G (p.Thr1581=)
c.4677C>G (p.Thr1559=)
c.4740C>G (p.Thr1580=)
c.4737C>G (p.Thr1579=)
c.4683C>G (p.Thr1561=)
c.4608C>G (p.Thr1536=)
c.4203C>G (p.Thr1401=)
c.3561C>G (p.Thr1187=)
c.1071C>G (p.Thr357=)
n.4986C>G
10g.71740881C>TCA470069221CDH23c.4548C>T (p.Thr1516=)
c.4563C>T (p.Thr1521=)
n.1237C>T
c.4743C>T (p.Thr1581=)
c.4677C>T (p.Thr1559=)
c.4740C>T (p.Thr1580=)
c.4737C>T (p.Thr1579=)
c.4683C>T (p.Thr1561=)
c.4608C>T (p.Thr1536=)
c.4203C>T (p.Thr1401=)
c.3561C>T (p.Thr1187=)
c.1071C>T (p.Thr357=)
n.4986C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71740882A>CCA377160524CDH23c.4549A>C (p.Ile1517Leu)
c.4564A>C (p.Ile1522Leu)
n.1238A>C
c.4744A>C (p.Ile1582Leu)
c.4678A>C (p.Ile1560Leu)
c.4741A>C (p.Ile1581Leu)
c.4738A>C (p.Ile1580Leu)
c.4684A>C (p.Ile1562Leu)
c.4609A>C (p.Ile1537Leu)
c.4204A>C (p.Ile1402Leu)
c.3562A>C (p.Ile1188Leu)
c.1072A>C (p.Ile358Leu)
n.4987A>C
10g.71740882A>GCA377160525CDH23c.4549A>G (p.Ile1517Val)
c.4564A>G (p.Ile1522Val)
n.1238A>G
c.4744A>G (p.Ile1582Val)
c.4678A>G (p.Ile1560Val)
c.4741A>G (p.Ile1581Val)
c.4738A>G (p.Ile1580Val)
c.4684A>G (p.Ile1562Val)
c.4609A>G (p.Ile1537Val)
c.4204A>G (p.Ile1402Val)
c.3562A>G (p.Ile1188Val)
c.1072A>G (p.Ile358Val)
n.4987A>G
10g.71740882A>TCA377160526CDH23c.4549A>T (p.Ile1517Phe)
c.4564A>T (p.Ile1522Phe)
n.1238A>T
c.4744A>T (p.Ile1582Phe)
c.4678A>T (p.Ile1560Phe)
c.4741A>T (p.Ile1581Phe)
c.4738A>T (p.Ile1580Phe)
c.4684A>T (p.Ile1562Phe)
c.4609A>T (p.Ile1537Phe)
c.4204A>T (p.Ile1402Phe)
c.3562A>T (p.Ile1188Phe)
c.1072A>T (p.Ile358Phe)
n.4987A>T
10g.71740883T>ACA377160529CDH23c.4550T>A (p.Ile1517Asn)
c.4565T>A (p.Ile1522Asn)
n.1239T>A
c.4745T>A (p.Ile1582Asn)
c.4679T>A (p.Ile1560Asn)
c.4742T>A (p.Ile1581Asn)
c.4739T>A (p.Ile1580Asn)
c.4685T>A (p.Ile1562Asn)
c.4610T>A (p.Ile1537Asn)
c.4205T>A (p.Ile1402Asn)
c.3563T>A (p.Ile1188Asn)
c.1073T>A (p.Ile358Asn)
n.4988T>A
10g.71740883T>CCA377160530CDH23c.4550T>C (p.Ile1517Thr)
c.4565T>C (p.Ile1522Thr)
n.1239T>C
c.4745T>C (p.Ile1582Thr)
c.4679T>C (p.Ile1560Thr)
c.4742T>C (p.Ile1581Thr)
c.4739T>C (p.Ile1580Thr)
c.4685T>C (p.Ile1562Thr)
c.4610T>C (p.Ile1537Thr)
c.4205T>C (p.Ile1402Thr)
c.3563T>C (p.Ile1188Thr)
c.1073T>C (p.Ile358Thr)
n.4988T>C
 ClinVar dbSNP
10g.71740883T>GCA377160532CDH23c.4550T>G (p.Ile1517Ser)
c.4565T>G (p.Ile1522Ser)
n.1239T>G
c.4745T>G (p.Ile1582Ser)
c.4679T>G (p.Ile1560Ser)
c.4742T>G (p.Ile1581Ser)
c.4739T>G (p.Ile1580Ser)
c.4685T>G (p.Ile1562Ser)
c.4610T>G (p.Ile1537Ser)
c.4205T>G (p.Ile1402Ser)
c.3563T>G (p.Ile1188Ser)
c.1073T>G (p.Ile358Ser)
n.4988T>G
10g.71740883_71740884delinsTCCA1918853850CDH23c.4550_4551delinsTC (p.Ile1517=)
c.4565_4566delinsTC (p.Ile1522=)
n.1239_1240delinsTC
c.4745_4746delinsTC (p.Ile1582=)
c.4679_4680delinsTC (p.Ile1560=)
c.4742_4743delinsTC (p.Ile1581=)
c.4739_4740delinsTC (p.Ile1580=)
c.4685_4686delinsTC (p.Ile1562=)
c.4610_4611delinsTC (p.Ile1537=)
c.4205_4206delinsTC (p.Ile1402=)
c.3563_3564delinsTC (p.Ile1188=)
c.1073_1074delinsTC (p.Ile358=)
n.4988_4989delinsTC
10g.71740884C>ACA470069224CDH23c.4551C>A (p.Ile1517=)
c.4566C>A (p.Ile1522=)
n.1240C>A
c.4746C>A (p.Ile1582=)
c.4680C>A (p.Ile1560=)
c.4743C>A (p.Ile1581=)
c.4740C>A (p.Ile1580=)
c.4686C>A (p.Ile1562=)
c.4611C>A (p.Ile1537=)
c.4206C>A (p.Ile1402=)
c.3564C>A (p.Ile1188=)
c.1074C>A (p.Ile358=)
n.4989C>A
10g.71740884C=CA1918853851CDH23c.4551C= (p.Ile1517=)
c.4566C= (p.Ile1522=)
n.1240C=
c.4746C= (p.Ile1582=)
c.4680C= (p.Ile1560=)
c.4743C= (p.Ile1581=)
c.4740C= (p.Ile1580=)
c.4686C= (p.Ile1562=)
c.4611C= (p.Ile1537=)
c.4206C= (p.Ile1402=)
c.3564C= (p.Ile1188=)
c.1074C= (p.Ile358=)
n.4989C=
10g.71740884C>GCA377160535CDH23c.4551C>G (p.Ile1517Met)
c.4566C>G (p.Ile1522Met)
n.1240C>G
c.4746C>G (p.Ile1582Met)
c.4680C>G (p.Ile1560Met)
c.4743C>G (p.Ile1581Met)
c.4740C>G (p.Ile1580Met)
c.4686C>G (p.Ile1562Met)
c.4611C>G (p.Ile1537Met)
c.4206C>G (p.Ile1402Met)
c.3564C>G (p.Ile1188Met)
c.1074C>G (p.Ile358Met)
n.4989C>G
10g.71740884C>TCA470069225CDH23c.4551C>T (p.Ile1517=)
c.4566C>T (p.Ile1522=)
n.1240C>T
c.4746C>T (p.Ile1582=)
c.4680C>T (p.Ile1560=)
c.4743C>T (p.Ile1581=)
c.4740C>T (p.Ile1580=)
c.4686C>T (p.Ile1562=)
c.4611C>T (p.Ile1537=)
c.4206C>T (p.Ile1402=)
c.3564C>T (p.Ile1188=)
c.1074C>T (p.Ile358=)
n.4989C>T
 dbSNP
10g.71740885delCA594323985CDH23c.4552del (p.Leu1518TrpfsTer20)
c.4567del (p.Leu1523TrpfsTer20)
n.1241del
c.4747del (p.Leu1583TrpfsTer20)
c.4681del (p.Leu1561TrpfsTer20)
c.4744del (p.Leu1582TrpfsTer20)
c.4741del (p.Leu1581TrpfsTer20)
c.4687del (p.Leu1563TrpfsTer20)
c.4612del (p.Leu1538TrpfsTer20)
c.4207del (p.Leu1403TrpfsTer20)
c.3565del (p.Leu1189TrpfsTer20)
c.1075del (p.Leu359TrpfsTer20)
n.4990del
 dbSNP gnomAD v2 gnomAD v4
10g.71740885C>ACA377160537CDH23c.4552C>A (p.Leu1518Met)
c.4567C>A (p.Leu1523Met)
n.1241C>A
c.4747C>A (p.Leu1583Met)
c.4681C>A (p.Leu1561Met)
c.4744C>A (p.Leu1582Met)
c.4741C>A (p.Leu1581Met)
c.4687C>A (p.Leu1563Met)
c.4612C>A (p.Leu1538Met)
c.4207C>A (p.Leu1403Met)
c.3565C>A (p.Leu1189Met)
c.1075C>A (p.Leu359Met)
n.4990C>A
10g.71740885C=CA1918853852CDH23c.4552C= (p.Leu1518=)
c.4567C= (p.Leu1523=)
n.1241C=
c.4747C= (p.Leu1583=)
c.4681C= (p.Leu1561=)
c.4744C= (p.Leu1582=)
c.4741C= (p.Leu1581=)
c.4687C= (p.Leu1563=)
c.4612C= (p.Leu1538=)
c.4207C= (p.Leu1403=)
c.3565C= (p.Leu1189=)
c.1075C= (p.Leu359=)
n.4990C=
10g.71740885C>GCA5545091CDH23c.4552C>G (p.Leu1518Val)
c.4567C>G (p.Leu1523Val)
n.1241C>G
c.4747C>G (p.Leu1583Val)
c.4681C>G (p.Leu1561Val)
c.4744C>G (p.Leu1582Val)
c.4741C>G (p.Leu1581Val)
c.4687C>G (p.Leu1563Val)
c.4612C>G (p.Leu1538Val)
c.4207C>G (p.Leu1403Val)
c.3565C>G (p.Leu1189Val)
c.1075C>G (p.Leu359Val)
n.4990C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71740885C>TCA470069226CDH23c.4552C>T (p.Leu1518=)
c.4567C>T (p.Leu1523=)
n.1241C>T
c.4747C>T (p.Leu1583=)
c.4681C>T (p.Leu1561=)
c.4744C>T (p.Leu1582=)
c.4741C>T (p.Leu1581=)
c.4687C>T (p.Leu1563=)
c.4612C>T (p.Leu1538=)
c.4207C>T (p.Leu1403=)
c.3565C>T (p.Leu1189=)
c.1075C>T (p.Leu359=)
n.4990C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71740886T>ACA377160539CDH23c.4553T>A (p.Leu1518Gln)
c.4568T>A (p.Leu1523Gln)
n.1242T>A
c.4748T>A (p.Leu1583Gln)
c.4682T>A (p.Leu1561Gln)
c.4745T>A (p.Leu1582Gln)
c.4742T>A (p.Leu1581Gln)
c.4688T>A (p.Leu1563Gln)
c.4613T>A (p.Leu1538Gln)
c.4208T>A (p.Leu1403Gln)
c.3566T>A (p.Leu1189Gln)
c.1076T>A (p.Leu359Gln)
n.4991T>A
10g.71740886T>CCA377160540CDH23c.4553T>C (p.Leu1518Pro)
c.4568T>C (p.Leu1523Pro)
n.1242T>C
c.4748T>C (p.Leu1583Pro)
c.4682T>C (p.Leu1561Pro)
c.4745T>C (p.Leu1582Pro)
c.4742T>C (p.Leu1581Pro)
c.4688T>C (p.Leu1563Pro)
c.4613T>C (p.Leu1538Pro)
c.4208T>C (p.Leu1403Pro)
c.3566T>C (p.Leu1189Pro)
c.1076T>C (p.Leu359Pro)
n.4991T>C
 gnomAD v4
10g.71740886T>GCA377160542CDH23c.4553T>G (p.Leu1518Arg)
c.4568T>G (p.Leu1523Arg)
n.1242T>G
c.4748T>G (p.Leu1583Arg)
c.4682T>G (p.Leu1561Arg)
c.4745T>G (p.Leu1582Arg)
c.4742T>G (p.Leu1581Arg)
c.4688T>G (p.Leu1563Arg)
c.4613T>G (p.Leu1538Arg)
c.4208T>G (p.Leu1403Arg)
c.3566T>G (p.Leu1189Arg)
c.1076T>G (p.Leu359Arg)
n.4991T>G
 COSMIC
10g.71740887G>ACA470069227CDH23c.4554G>A (p.Leu1518=)
c.4569G>A (p.Leu1523=)
n.1243G>A
c.4749G>A (p.Leu1583=)
c.4683G>A (p.Leu1561=)
c.4746G>A (p.Leu1582=)
c.4743G>A (p.Leu1581=)
c.4689G>A (p.Leu1563=)
c.4614G>A (p.Leu1538=)
c.4209G>A (p.Leu1403=)
c.3567G>A (p.Leu1189=)
c.1077G>A (p.Leu359=)
n.4992G>A
 ClinVar dbSNP gnomAD v4
10g.71740887G>CCA470069228CDH23c.4554G>C (p.Leu1518=)
c.4569G>C (p.Leu1523=)
n.1243G>C
c.4749G>C (p.Leu1583=)
c.4683G>C (p.Leu1561=)
c.4746G>C (p.Leu1582=)
c.4743G>C (p.Leu1581=)
c.4689G>C (p.Leu1563=)
c.4614G>C (p.Leu1538=)
c.4209G>C (p.Leu1403=)
c.3567G>C (p.Leu1189=)
c.1077G>C (p.Leu359=)
n.4992G>C
10g.71740887G=CA1918853853CDH23c.4554G= (p.Leu1518=)
c.4569G= (p.Leu1523=)
n.1243G=
c.4749G= (p.Leu1583=)
c.4683G= (p.Leu1561=)
c.4746G= (p.Leu1582=)
c.4743G= (p.Leu1581=)
c.4689G= (p.Leu1563=)
c.4614G= (p.Leu1538=)
c.4209G= (p.Leu1403=)
c.3567G= (p.Leu1189=)
c.1077G= (p.Leu359=)
n.4992G=
10g.71740887G>TCA470069229CDH23c.4554G>T (p.Leu1518=)
c.4569G>T (p.Leu1523=)
n.1243G>T
c.4749G>T (p.Leu1583=)
c.4683G>T (p.Leu1561=)
c.4746G>T (p.Leu1582=)
c.4743G>T (p.Leu1581=)
c.4689G>T (p.Leu1563=)
c.4614G>T (p.Leu1538=)
c.4209G>T (p.Leu1403=)
c.3567G>T (p.Leu1189=)
c.1077G>T (p.Leu359=)
n.4992G>T
10g.71740888G>ACA377160544CDH23c.4555G>A (p.Asp1519Asn)
c.4570G>A (p.Asp1524Asn)
n.1244G>A
c.4750G>A (p.Asp1584Asn)
c.4684G>A (p.Asp1562Asn)
c.4747G>A (p.Asp1583Asn)
c.4744G>A (p.Asp1582Asn)
c.4690G>A (p.Asp1564Asn)
c.4615G>A (p.Asp1539Asn)
c.4210G>A (p.Asp1404Asn)
c.3568G>A (p.Asp1190Asn)
c.1078G>A (p.Asp360Asn)
n.4993G>A
10g.71740888G>CCA137435CDH23c.4555G>C (p.Asp1519His)
c.4570G>C (p.Asp1524His)
n.1244G>C
c.4750G>C (p.Asp1584His)
c.4684G>C (p.Asp1562His)
c.4747G>C (p.Asp1583His)
c.4744G>C (p.Asp1582His)
c.4690G>C (p.Asp1564His)
c.4615G>C (p.Asp1539His)
c.4210G>C (p.Asp1404His)
c.3568G>C (p.Asp1190His)
c.1078G>C (p.Asp360His)
n.4993G>C
 ClinVar dbSNP
10g.71740888G=CA1918853854CDH23c.4555G= (p.Asp1519=)
c.4570G= (p.Asp1524=)
n.1244G=
c.4750G= (p.Asp1584=)
c.4684G= (p.Asp1562=)
c.4747G= (p.Asp1583=)
c.4744G= (p.Asp1582=)
c.4690G= (p.Asp1564=)
c.4615G= (p.Asp1539=)
c.4210G= (p.Asp1404=)
c.3568G= (p.Asp1190=)
c.1078G= (p.Asp360=)
n.4993G=
10g.71740888G>TCA377160547CDH23c.4555G>T (p.Asp1519Tyr)
c.4570G>T (p.Asp1524Tyr)
n.1244G>T
c.4750G>T (p.Asp1584Tyr)
c.4684G>T (p.Asp1562Tyr)
c.4747G>T (p.Asp1583Tyr)
c.4744G>T (p.Asp1582Tyr)
c.4690G>T (p.Asp1564Tyr)
c.4615G>T (p.Asp1539Tyr)
c.4210G>T (p.Asp1404Tyr)
c.3568G>T (p.Asp1190Tyr)
c.1078G>T (p.Asp360Tyr)
n.4993G>T
10g.71740889A>CCA377160549CDH23c.4556A>C (p.Asp1519Ala)
c.4571A>C (p.Asp1524Ala)
n.1245A>C
c.4751A>C (p.Asp1584Ala)
c.4685A>C (p.Asp1562Ala)
c.4748A>C (p.Asp1583Ala)
c.4745A>C (p.Asp1582Ala)
c.4691A>C (p.Asp1564Ala)
c.4616A>C (p.Asp1539Ala)
c.4211A>C (p.Asp1404Ala)
c.3569A>C (p.Asp1190Ala)
c.1079A>C (p.Asp360Ala)
n.4994A>C
10g.71740889A>GCA377160551CDH23c.4556A>G (p.Asp1519Gly)
c.4571A>G (p.Asp1524Gly)
n.1245A>G
c.4751A>G (p.Asp1584Gly)
c.4685A>G (p.Asp1562Gly)
c.4748A>G (p.Asp1583Gly)
c.4745A>G (p.Asp1582Gly)
c.4691A>G (p.Asp1564Gly)
c.4616A>G (p.Asp1539Gly)
c.4211A>G (p.Asp1404Gly)
c.3569A>G (p.Asp1190Gly)
c.1079A>G (p.Asp360Gly)
n.4994A>G
10g.71740889A>TCA377160553CDH23c.4556A>T (p.Asp1519Val)
c.4571A>T (p.Asp1524Val)
n.1245A>T
c.4751A>T (p.Asp1584Val)
c.4685A>T (p.Asp1562Val)
c.4748A>T (p.Asp1583Val)
c.4745A>T (p.Asp1582Val)
c.4691A>T (p.Asp1564Val)
c.4616A>T (p.Asp1539Val)
c.4211A>T (p.Asp1404Val)
c.3569A>T (p.Asp1190Val)
c.1079A>T (p.Asp360Val)
n.4994A>T
 gnomAD v4
10g.71740890C>ACA377160556CDH23c.4557C>A (p.Asp1519Glu)
c.4572C>A (p.Asp1524Glu)
n.1246C>A
c.4752C>A (p.Asp1584Glu)
c.4686C>A (p.Asp1562Glu)
c.4749C>A (p.Asp1583Glu)
c.4746C>A (p.Asp1582Glu)
c.4692C>A (p.Asp1564Glu)
c.4617C>A (p.Asp1539Glu)
c.4212C>A (p.Asp1404Glu)
c.3570C>A (p.Asp1190Glu)
c.1080C>A (p.Asp360Glu)
n.4995C>A
10g.71740890C=CA1918853855CDH23c.4557C= (p.Asp1519=)
c.4572C= (p.Asp1524=)
n.1246C=
c.4752C= (p.Asp1584=)
c.4686C= (p.Asp1562=)
c.4749C= (p.Asp1583=)
c.4746C= (p.Asp1582=)
c.4692C= (p.Asp1564=)
c.4617C= (p.Asp1539=)
c.4212C= (p.Asp1404=)
c.3570C= (p.Asp1190=)
c.1080C= (p.Asp360=)
n.4995C=
10g.71740890C>GCA377160557CDH23c.4557C>G (p.Asp1519Glu)
c.4572C>G (p.Asp1524Glu)
n.1246C>G
c.4752C>G (p.Asp1584Glu)
c.4686C>G (p.Asp1562Glu)
c.4749C>G (p.Asp1583Glu)
c.4746C>G (p.Asp1582Glu)
c.4692C>G (p.Asp1564Glu)
c.4617C>G (p.Asp1539Glu)
c.4212C>G (p.Asp1404Glu)
c.3570C>G (p.Asp1190Glu)
c.1080C>G (p.Asp360Glu)
n.4995C>G
10g.71740890C>TCA209486322CDH23c.4557C>T (p.Asp1519=)
c.4572C>T (p.Asp1524=)
n.1246C>T
c.4752C>T (p.Asp1584=)
c.4686C>T (p.Asp1562=)
c.4749C>T (p.Asp1583=)
c.4746C>T (p.Asp1582=)
c.4692C>T (p.Asp1564=)
c.4617C>T (p.Asp1539=)
c.4212C>T (p.Asp1404=)
c.3570C>T (p.Asp1190=)
c.1080C>T (p.Asp360=)
n.4995C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71740891A>CCA377160567CDH23c.4558A>C (p.Ile1520Leu)
c.4573A>C (p.Ile1525Leu)
n.1247A>C
c.4753A>C (p.Ile1585Leu)
c.4687A>C (p.Ile1563Leu)
c.4750A>C (p.Ile1584Leu)
c.4747A>C (p.Ile1583Leu)
c.4693A>C (p.Ile1565Leu)
c.4618A>C (p.Ile1540Leu)
c.4213A>C (p.Ile1405Leu)
c.3571A>C (p.Ile1191Leu)
c.1081A>C (p.Ile361Leu)
n.4996A>C
10g.71740891A>GCA377160566CDH23c.4558A>G (p.Ile1520Val)
c.4573A>G (p.Ile1525Val)
n.1247A>G
c.4753A>G (p.Ile1585Val)
c.4687A>G (p.Ile1563Val)
c.4750A>G (p.Ile1584Val)
c.4747A>G (p.Ile1583Val)
c.4693A>G (p.Ile1565Val)
c.4618A>G (p.Ile1540Val)
c.4213A>G (p.Ile1405Val)
c.3571A>G (p.Ile1191Val)
c.1081A>G (p.Ile361Val)
n.4996A>G
10g.71740891A>TCA377160564CDH23c.4558A>T (p.Ile1520Phe)
c.4573A>T (p.Ile1525Phe)
n.1247A>T
c.4753A>T (p.Ile1585Phe)
c.4687A>T (p.Ile1563Phe)
c.4750A>T (p.Ile1584Phe)
c.4747A>T (p.Ile1583Phe)
c.4693A>T (p.Ile1565Phe)
c.4618A>T (p.Ile1540Phe)
c.4213A>T (p.Ile1405Phe)
c.3571A>T (p.Ile1191Phe)
c.1081A>T (p.Ile361Phe)
n.4996A>T
10g.71740892T>ACA377160568CDH23c.4559T>A (p.Ile1520Asn)
c.4574T>A (p.Ile1525Asn)
n.1248T>A
c.4754T>A (p.Ile1585Asn)
c.4688T>A (p.Ile1563Asn)
c.4751T>A (p.Ile1584Asn)
c.4748T>A (p.Ile1583Asn)
c.4694T>A (p.Ile1565Asn)
c.4619T>A (p.Ile1540Asn)
c.4214T>A (p.Ile1405Asn)
c.3572T>A (p.Ile1191Asn)
c.1082T>A (p.Ile361Asn)
n.4997T>A
10g.71740892T>CCA377160570CDH23c.4559T>C (p.Ile1520Thr)
c.4574T>C (p.Ile1525Thr)
n.1248T>C
c.4754T>C (p.Ile1585Thr)
c.4688T>C (p.Ile1563Thr)
c.4751T>C (p.Ile1584Thr)
c.4748T>C (p.Ile1583Thr)
c.4694T>C (p.Ile1565Thr)
c.4619T>C (p.Ile1540Thr)
c.4214T>C (p.Ile1405Thr)
c.3572T>C (p.Ile1191Thr)
c.1082T>C (p.Ile361Thr)
n.4997T>C
10g.71740892T>GCA377160569CDH23c.4559T>G (p.Ile1520Ser)
c.4574T>G (p.Ile1525Ser)
n.1248T>G
c.4754T>G (p.Ile1585Ser)
c.4688T>G (p.Ile1563Ser)
c.4751T>G (p.Ile1584Ser)
c.4748T>G (p.Ile1583Ser)
c.4694T>G (p.Ile1565Ser)
c.4619T>G (p.Ile1540Ser)
c.4214T>G (p.Ile1405Ser)
c.3572T>G (p.Ile1191Ser)
c.1082T>G (p.Ile361Ser)
n.4997T>G
10g.71740893C>ACA470069230CDH23c.4560C>A (p.Ile1520=)
c.4575C>A (p.Ile1525=)
n.1249C>A
c.4755C>A (p.Ile1585=)
c.4689C>A (p.Ile1563=)
c.4752C>A (p.Ile1584=)
c.4749C>A (p.Ile1583=)
c.4695C>A (p.Ile1565=)
c.4620C>A (p.Ile1540=)
c.4215C>A (p.Ile1405=)
c.3573C>A (p.Ile1191=)
c.1083C>A (p.Ile361=)
n.4998C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71740893C=CA1918853856CDH23c.4560C= (p.Ile1520=)
c.4575C= (p.Ile1525=)
n.1249C=
c.4755C= (p.Ile1585=)
c.4689C= (p.Ile1563=)
c.4752C= (p.Ile1584=)
c.4749C= (p.Ile1583=)
c.4695C= (p.Ile1565=)
c.4620C= (p.Ile1540=)
c.4215C= (p.Ile1405=)
c.3573C= (p.Ile1191=)
c.1083C= (p.Ile361=)
n.4998C=
10g.71740893C>GCA377160571CDH23c.4560C>G (p.Ile1520Met)
c.4575C>G (p.Ile1525Met)
n.1249C>G
c.4755C>G (p.Ile1585Met)
c.4689C>G (p.Ile1563Met)
c.4752C>G (p.Ile1584Met)
c.4749C>G (p.Ile1583Met)
c.4695C>G (p.Ile1565Met)
c.4620C>G (p.Ile1540Met)
c.4215C>G (p.Ile1405Met)
c.3573C>G (p.Ile1191Met)
c.1083C>G (p.Ile361Met)
n.4998C>G
10g.71740893C>TCA470069231CDH23c.4560C>T (p.Ile1520=)
c.4575C>T (p.Ile1525=)
n.1249C>T
c.4755C>T (p.Ile1585=)
c.4689C>T (p.Ile1563=)
c.4752C>T (p.Ile1584=)
c.4749C>T (p.Ile1583=)
c.4695C>T (p.Ile1565=)
c.4620C>T (p.Ile1540=)
c.4215C>T (p.Ile1405=)
c.3573C>T (p.Ile1191=)
c.1083C>T (p.Ile361=)
n.4998C>T
10g.71740894A>CCA377160573CDH23c.4561A>C (p.Asn1521His)
c.4576A>C (p.Asn1526His)
n.1250A>C
c.4756A>C (p.Asn1586His)
c.4690A>C (p.Asn1564His)
c.4753A>C (p.Asn1585His)
c.4750A>C (p.Asn1584His)
c.4696A>C (p.Asn1566His)
c.4621A>C (p.Asn1541His)
c.4216A>C (p.Asn1406His)
c.3574A>C (p.Asn1192His)
c.1084A>C (p.Asn362His)
n.4999A>C
10g.71740894A>GCA377160576CDH23c.4561A>G (p.Asn1521Asp)
c.4576A>G (p.Asn1526Asp)
n.1250A>G
c.4756A>G (p.Asn1586Asp)
c.4690A>G (p.Asn1564Asp)
c.4753A>G (p.Asn1585Asp)
c.4750A>G (p.Asn1584Asp)
c.4696A>G (p.Asn1566Asp)
c.4621A>G (p.Asn1541Asp)
c.4216A>G (p.Asn1406Asp)
c.3574A>G (p.Asn1192Asp)
c.1084A>G (p.Asn362Asp)
n.4999A>G
 COSMIC
10g.71740894A>TCA377160579CDH23c.4561A>T (p.Asn1521Tyr)
c.4576A>T (p.Asn1526Tyr)
n.1250A>T
c.4756A>T (p.Asn1586Tyr)
c.4690A>T (p.Asn1564Tyr)
c.4753A>T (p.Asn1585Tyr)
c.4750A>T (p.Asn1584Tyr)
c.4696A>T (p.Asn1566Tyr)
c.4621A>T (p.Asn1541Tyr)
c.4216A>T (p.Asn1406Tyr)
c.3574A>T (p.Asn1192Tyr)
c.1084A>T (p.Asn362Tyr)
n.4999A>T
10g.71740895A=CA1918853857CDH23c.4562A= (p.Asn1521=)
c.4577A= (p.Asn1526=)
n.1251A=
c.4757A= (p.Asn1586=)
c.4691A= (p.Asn1564=)
c.4754A= (p.Asn1585=)
c.4751A= (p.Asn1584=)
c.4697A= (p.Asn1566=)
c.4622A= (p.Asn1541=)
c.4217A= (p.Asn1406=)
c.3575A= (p.Asn1192=)
c.1085A= (p.Asn362=)
n.5000A=
10g.71740895A>CCA377160580CDH23c.4562A>C (p.Asn1521Thr)
c.4577A>C (p.Asn1526Thr)
n.1251A>C
c.4757A>C (p.Asn1586Thr)
c.4691A>C (p.Asn1564Thr)
c.4754A>C (p.Asn1585Thr)
c.4751A>C (p.Asn1584Thr)
c.4697A>C (p.Asn1566Thr)
c.4622A>C (p.Asn1541Thr)
c.4217A>C (p.Asn1406Thr)
c.3575A>C (p.Asn1192Thr)
c.1085A>C (p.Asn362Thr)
n.5000A>C
10g.71740895A>GCA5545092CDH23c.4562A>G (p.Asn1521Ser)
c.4577A>G (p.Asn1526Ser)
n.1251A>G
c.4757A>G (p.Asn1586Ser)
c.4691A>G (p.Asn1564Ser)
c.4754A>G (p.Asn1585Ser)
c.4751A>G (p.Asn1584Ser)
c.4697A>G (p.Asn1566Ser)
c.4622A>G (p.Asn1541Ser)
c.4217A>G (p.Asn1406Ser)
c.3575A>G (p.Asn1192Ser)
c.1085A>G (p.Asn362Ser)
n.5000A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740895A>TCA377160583CDH23c.4562A>T (p.Asn1521Ile)
c.4577A>T (p.Asn1526Ile)
n.1251A>T
c.4757A>T (p.Asn1586Ile)
c.4691A>T (p.Asn1564Ile)
c.4754A>T (p.Asn1585Ile)
c.4751A>T (p.Asn1584Ile)
c.4697A>T (p.Asn1566Ile)
c.4622A>T (p.Asn1541Ile)
c.4217A>T (p.Asn1406Ile)
c.3575A>T (p.Asn1192Ile)
c.1085A>T (p.Asn362Ile)
n.5000A>T
10g.71740896T>ACA377160587CDH23c.4563T>A (p.Asn1521Lys)
c.4578T>A (p.Asn1526Lys)
n.1252T>A
c.4758T>A (p.Asn1586Lys)
c.4692T>A (p.Asn1564Lys)
c.4755T>A (p.Asn1585Lys)
c.4752T>A (p.Asn1584Lys)
c.4698T>A (p.Asn1566Lys)
c.4623T>A (p.Asn1541Lys)
c.4218T>A (p.Asn1406Lys)
c.3576T>A (p.Asn1192Lys)
c.1086T>A (p.Asn362Lys)
n.5001T>A
10g.71740896T>CCA470069232CDH23c.4563T>C (p.Asn1521=)
c.4578T>C (p.Asn1526=)
n.1252T>C
c.4758T>C (p.Asn1586=)
c.4692T>C (p.Asn1564=)
c.4755T>C (p.Asn1585=)
c.4752T>C (p.Asn1584=)
c.4698T>C (p.Asn1566=)
c.4623T>C (p.Asn1541=)
c.4218T>C (p.Asn1406=)
c.3576T>C (p.Asn1192=)
c.1086T>C (p.Asn362=)
n.5001T>C
10g.71740896T>GCA377160589CDH23c.4563T>G (p.Asn1521Lys)
c.4578T>G (p.Asn1526Lys)
n.1252T>G
c.4758T>G (p.Asn1586Lys)
c.4692T>G (p.Asn1564Lys)
c.4755T>G (p.Asn1585Lys)
c.4752T>G (p.Asn1584Lys)
c.4698T>G (p.Asn1566Lys)
c.4623T>G (p.Asn1541Lys)
c.4218T>G (p.Asn1406Lys)
c.3576T>G (p.Asn1192Lys)
c.1086T>G (p.Asn362Lys)
n.5001T>G
10g.71740897G>ACA377160591CDH23c.4564G>A (p.Asp1522Asn)
c.4579G>A (p.Asp1527Asn)
n.1253G>A
c.4759G>A (p.Asp1587Asn)
c.4693G>A (p.Asp1565Asn)
c.4756G>A (p.Asp1586Asn)
c.4753G>A (p.Asp1585Asn)
c.4699G>A (p.Asp1567Asn)
c.4624G>A (p.Asp1542Asn)
c.4219G>A (p.Asp1407Asn)
c.3577G>A (p.Asp1193Asn)
c.1087G>A (p.Asp363Asn)
n.5002G>A
10g.71740897G>CCA377160593CDH23c.4564G>C (p.Asp1522His)
c.4579G>C (p.Asp1527His)
n.1253G>C
c.4759G>C (p.Asp1587His)
c.4693G>C (p.Asp1565His)
c.4756G>C (p.Asp1586His)
c.4753G>C (p.Asp1585His)
c.4699G>C (p.Asp1567His)
c.4624G>C (p.Asp1542His)
c.4219G>C (p.Asp1407His)
c.3577G>C (p.Asp1193His)
c.1087G>C (p.Asp363His)
n.5002G>C
10g.71740897G>TCA377160595CDH23c.4564G>T (p.Asp1522Tyr)
c.4579G>T (p.Asp1527Tyr)
n.1253G>T
c.4759G>T (p.Asp1587Tyr)
c.4693G>T (p.Asp1565Tyr)
c.4756G>T (p.Asp1586Tyr)
c.4753G>T (p.Asp1585Tyr)
c.4699G>T (p.Asp1567Tyr)
c.4624G>T (p.Asp1542Tyr)
c.4219G>T (p.Asp1407Tyr)
c.3577G>T (p.Asp1193Tyr)
c.1087G>T (p.Asp363Tyr)
n.5002G>T
10g.71740898A>CCA377160597CDH23c.4565A>C (p.Asp1522Ala)
c.4580A>C (p.Asp1527Ala)
n.1254A>C
c.4760A>C (p.Asp1587Ala)
c.4694A>C (p.Asp1565Ala)
c.4757A>C (p.Asp1586Ala)
c.4754A>C (p.Asp1585Ala)
c.4700A>C (p.Asp1567Ala)
c.4625A>C (p.Asp1542Ala)
c.4220A>C (p.Asp1407Ala)
c.3578A>C (p.Asp1193Ala)
c.1088A>C (p.Asp363Ala)
n.5003A>C
10g.71740898A>GCA377160601CDH23c.4565A>G (p.Asp1522Gly)
c.4580A>G (p.Asp1527Gly)
n.1254A>G
c.4760A>G (p.Asp1587Gly)
c.4694A>G (p.Asp1565Gly)
c.4757A>G (p.Asp1586Gly)
c.4754A>G (p.Asp1585Gly)
c.4700A>G (p.Asp1567Gly)
c.4625A>G (p.Asp1542Gly)
c.4220A>G (p.Asp1407Gly)
c.3578A>G (p.Asp1193Gly)
c.1088A>G (p.Asp363Gly)
n.5003A>G
 gnomAD v4
10g.71740898A>TCA377160599CDH23c.4565A>T (p.Asp1522Val)
c.4580A>T (p.Asp1527Val)
n.1254A>T
c.4760A>T (p.Asp1587Val)
c.4694A>T (p.Asp1565Val)
c.4757A>T (p.Asp1586Val)
c.4754A>T (p.Asp1585Val)
c.4700A>T (p.Asp1567Val)
c.4625A>T (p.Asp1542Val)
c.4220A>T (p.Asp1407Val)
c.3578A>T (p.Asp1193Val)
c.1088A>T (p.Asp363Val)
n.5003A>T
 ClinVar
10g.71740899C>ACA377160604CDH23c.4566C>A (p.Asp1522Glu)
c.4581C>A (p.Asp1527Glu)
n.1255C>A
c.4761C>A (p.Asp1587Glu)
c.4695C>A (p.Asp1565Glu)
c.4758C>A (p.Asp1586Glu)
c.4755C>A (p.Asp1585Glu)
c.4701C>A (p.Asp1567Glu)
c.4626C>A (p.Asp1542Glu)
c.4221C>A (p.Asp1407Glu)
c.3579C>A (p.Asp1193Glu)
c.1089C>A (p.Asp363Glu)
n.5004C>A
10g.71740899C=CA1918853858CDH23c.4566C= (p.Asp1522=)
c.4581C= (p.Asp1527=)
n.1255C=
c.4761C= (p.Asp1587=)
c.4695C= (p.Asp1565=)
c.4758C= (p.Asp1586=)
c.4755C= (p.Asp1585=)
c.4701C= (p.Asp1567=)
c.4626C= (p.Asp1542=)
c.4221C= (p.Asp1407=)
c.3579C= (p.Asp1193=)
c.1089C= (p.Asp363=)
n.5004C=
10g.71740899C>GCA377160605CDH23c.4566C>G (p.Asp1522Glu)
c.4581C>G (p.Asp1527Glu)
n.1255C>G
c.4761C>G (p.Asp1587Glu)
c.4695C>G (p.Asp1565Glu)
c.4758C>G (p.Asp1586Glu)
c.4755C>G (p.Asp1585Glu)
c.4701C>G (p.Asp1567Glu)
c.4626C>G (p.Asp1542Glu)
c.4221C>G (p.Asp1407Glu)
c.3579C>G (p.Asp1193Glu)
c.1089C>G (p.Asp363Glu)
n.5004C>G
10g.71740899C>TCA470069233CDH23c.4566C>T (p.Asp1522=)
c.4581C>T (p.Asp1527=)
n.1255C>T
c.4761C>T (p.Asp1587=)
c.4695C>T (p.Asp1565=)
c.4758C>T (p.Asp1586=)
c.4755C>T (p.Asp1585=)
c.4701C>T (p.Asp1567=)
c.4626C>T (p.Asp1542=)
c.4221C>T (p.Asp1407=)
c.3579C>T (p.Asp1193=)
c.1089C>T (p.Asp363=)
n.5004C>T
 dbSNP gnomAD v3 gnomAD v4
10g.71740900A=CA1918853859CDH23c.4567A= (p.Asn1523=)
c.4582A= (p.Asn1528=)
n.1256A=
c.4762A= (p.Asn1588=)
c.4696A= (p.Asn1566=)
c.4759A= (p.Asn1587=)
c.4756A= (p.Asn1586=)
c.4702A= (p.Asn1568=)
c.4627A= (p.Asn1543=)
c.4222A= (p.Asn1408=)
c.3580A= (p.Asn1194=)
c.1090A= (p.Asn364=)
n.5005A=
10g.71740900A>CCA377160608CDH23c.4567A>C (p.Asn1523His)
c.4582A>C (p.Asn1528His)
n.1256A>C
c.4762A>C (p.Asn1588His)
c.4696A>C (p.Asn1566His)
c.4759A>C (p.Asn1587His)
c.4756A>C (p.Asn1586His)
c.4702A>C (p.Asn1568His)
c.4627A>C (p.Asn1543His)
c.4222A>C (p.Asn1408His)
c.3580A>C (p.Asn1194His)
c.1090A>C (p.Asn364His)
n.5005A>C
10g.71740900A>GCA5545093CDH23c.4567A>G (p.Asn1523Asp)
c.4582A>G (p.Asn1528Asp)
n.1256A>G
c.4762A>G (p.Asn1588Asp)
c.4696A>G (p.Asn1566Asp)
c.4759A>G (p.Asn1587Asp)
c.4756A>G (p.Asn1586Asp)
c.4702A>G (p.Asn1568Asp)
c.4627A>G (p.Asn1543Asp)
c.4222A>G (p.Asn1408Asp)
c.3580A>G (p.Asn1194Asp)
c.1090A>G (p.Asn364Asp)
n.5005A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71740900A>TCA377160611CDH23c.4567A>T (p.Asn1523Tyr)
c.4582A>T (p.Asn1528Tyr)
n.1256A>T
c.4762A>T (p.Asn1588Tyr)
c.4696A>T (p.Asn1566Tyr)
c.4759A>T (p.Asn1587Tyr)
c.4756A>T (p.Asn1586Tyr)
c.4702A>T (p.Asn1568Tyr)
c.4627A>T (p.Asn1543Tyr)
c.4222A>T (p.Asn1408Tyr)
c.3580A>T (p.Asn1194Tyr)
c.1090A>T (p.Asn364Tyr)
n.5005A>T
10g.71740900_71740904delinsAACCCCA1918853860CDH23c.4567_4571delinsAACCC (p.Asn1523=)
c.4582_4586delinsAACCC (p.Asn1528=)
n.1256_1260delinsAACCC
c.4762_4766delinsAACCC (p.Asn1588=)
c.4696_4700delinsAACCC (p.Asn1566=)
c.4759_4763delinsAACCC (p.Asn1587=)
c.4756_4760delinsAACCC (p.Asn1586=)
c.4702_4706delinsAACCC (p.Asn1568=)
c.4627_4631delinsAACCC (p.Asn1543=)
c.4222_4226delinsAACCC (p.Asn1408=)
c.3580_3584delinsAACCC (p.Asn1194=)
c.1090_1094delinsAACCC (p.Asn364=)
n.5005_5009delinsAACCC
10g.71740901A>CCA377160613CDH23c.4568A>C (p.Asn1523Thr)
c.4583A>C (p.Asn1528Thr)
n.1257A>C
c.4763A>C (p.Asn1588Thr)
c.4697A>C (p.Asn1566Thr)
c.4760A>C (p.Asn1587Thr)
c.4757A>C (p.Asn1586Thr)
c.4703A>C (p.Asn1568Thr)
c.4628A>C (p.Asn1543Thr)
c.4223A>C (p.Asn1408Thr)
c.3581A>C (p.Asn1194Thr)
c.1091A>C (p.Asn364Thr)
n.5006A>C
10g.71740901A>GCA377160615CDH23c.4568A>G (p.Asn1523Ser)
c.4583A>G (p.Asn1528Ser)
n.1257A>G
c.4763A>G (p.Asn1588Ser)
c.4697A>G (p.Asn1566Ser)
c.4760A>G (p.Asn1587Ser)
c.4757A>G (p.Asn1586Ser)
c.4703A>G (p.Asn1568Ser)
c.4628A>G (p.Asn1543Ser)
c.4223A>G (p.Asn1408Ser)
c.3581A>G (p.Asn1194Ser)
c.1091A>G (p.Asn364Ser)
n.5006A>G
10g.71740901A>TCA377160617CDH23c.4568A>T (p.Asn1523Ile)
c.4583A>T (p.Asn1528Ile)
n.1257A>T
c.4763A>T (p.Asn1588Ile)
c.4697A>T (p.Asn1566Ile)
c.4760A>T (p.Asn1587Ile)
c.4757A>T (p.Asn1586Ile)
c.4703A>T (p.Asn1568Ile)
c.4628A>T (p.Asn1543Ile)
c.4223A>T (p.Asn1408Ile)
c.3581A>T (p.Asn1194Ile)
c.1091A>T (p.Asn364Ile)
n.5006A>T
 gnomAD v4
10g.71740901_71740904delCA594323986CDH23c.4568_4571del (p.Asn1523IlefsTer14)
c.4583_4586del (p.Asn1528IlefsTer14)
n.1257_1260del
c.4763_4766del (p.Asn1588IlefsTer14)
c.4697_4700del (p.Asn1566IlefsTer14)
c.4760_4763del (p.Asn1587IlefsTer14)
c.4757_4760del (p.Asn1586IlefsTer14)
c.4703_4706del (p.Asn1568IlefsTer14)
c.4628_4631del (p.Asn1543IlefsTer14)
c.4223_4226del (p.Asn1408IlefsTer14)
c.3581_3584del (p.Asn1194IlefsTer14)
c.1091_1094del (p.Asn364IlefsTer14)
n.5006_5009del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71740902C>ACA377160619CDH23c.4569C>A (p.Asn1523Lys)
c.4584C>A (p.Asn1528Lys)
n.1258C>A
c.4764C>A (p.Asn1588Lys)
c.4698C>A (p.Asn1566Lys)
c.4761C>A (p.Asn1587Lys)
c.4758C>A (p.Asn1586Lys)
c.4704C>A (p.Asn1568Lys)
c.4629C>A (p.Asn1543Lys)
c.4224C>A (p.Asn1408Lys)
c.3582C>A (p.Asn1194Lys)
c.1092C>A (p.Asn364Lys)
n.5007C>A
10g.71740902C>GCA377160621CDH23c.4569C>G (p.Asn1523Lys)
c.4584C>G (p.Asn1528Lys)
n.1258C>G
c.4764C>G (p.Asn1588Lys)
c.4698C>G (p.Asn1566Lys)
c.4761C>G (p.Asn1587Lys)
c.4758C>G (p.Asn1586Lys)
c.4704C>G (p.Asn1568Lys)
c.4629C>G (p.Asn1543Lys)
c.4224C>G (p.Asn1408Lys)
c.3582C>G (p.Asn1194Lys)
c.1092C>G (p.Asn364Lys)
n.5007C>G
10g.71740902C>TCA470069235CDH23c.4569C>T (p.Asn1523=)
c.4584C>T (p.Asn1528=)
n.1258C>T
c.4764C>T (p.Asn1588=)
c.4698C>T (p.Asn1566=)
c.4761C>T (p.Asn1587=)
c.4758C>T (p.Asn1586=)
c.4704C>T (p.Asn1568=)
c.4629C>T (p.Asn1543=)
c.4224C>T (p.Asn1408=)
c.3582C>T (p.Asn1194=)
c.1092C>T (p.Asn364=)
n.5007C>T
10g.71740903C>ACA377160624CDH23c.4570C>A (p.Pro1524Thr)
c.4585C>A (p.Pro1529Thr)
n.1259C>A
c.4765C>A (p.Pro1589Thr)
c.4699C>A (p.Pro1567Thr)
c.4762C>A (p.Pro1588Thr)
c.4759C>A (p.Pro1587Thr)
c.4705C>A (p.Pro1569Thr)
c.4630C>A (p.Pro1544Thr)
c.4225C>A (p.Pro1409Thr)
c.3583C>A (p.Pro1195Thr)
c.1093C>A (p.Pro365Thr)
n.5008C>A
 dbSNP
10g.71740903C=CA1918853861CDH23c.4570C= (p.Pro1524=)
c.4585C= (p.Pro1529=)
n.1259C=
c.4765C= (p.Pro1589=)
c.4699C= (p.Pro1567=)
c.4762C= (p.Pro1588=)
c.4759C= (p.Pro1587=)
c.4705C= (p.Pro1569=)
c.4630C= (p.Pro1544=)
c.4225C= (p.Pro1409=)
c.3583C= (p.Pro1195=)
c.1093C= (p.Pro365=)
n.5008C=
10g.71740903C>GCA377160626CDH23c.4570C>G (p.Pro1524Ala)
c.4585C>G (p.Pro1529Ala)
n.1259C>G
c.4765C>G (p.Pro1589Ala)
c.4699C>G (p.Pro1567Ala)
c.4762C>G (p.Pro1588Ala)
c.4759C>G (p.Pro1587Ala)
c.4705C>G (p.Pro1569Ala)
c.4630C>G (p.Pro1544Ala)
c.4225C>G (p.Pro1409Ala)
c.3583C>G (p.Pro1195Ala)
c.1093C>G (p.Pro365Ala)
n.5008C>G
 gnomAD v4
10g.71740903C>TCA377160622CDH23c.4570C>T (p.Pro1524Ser)
c.4585C>T (p.Pro1529Ser)
n.1259C>T
c.4765C>T (p.Pro1589Ser)
c.4699C>T (p.Pro1567Ser)
c.4762C>T (p.Pro1588Ser)
c.4759C>T (p.Pro1587Ser)
c.4705C>T (p.Pro1569Ser)
c.4630C>T (p.Pro1544Ser)
c.4225C>T (p.Pro1409Ser)
c.3583C>T (p.Pro1195Ser)
c.1093C>T (p.Pro365Ser)
n.5008C>T
10g.71740904C>ACA377160628CDH23c.4571C>A (p.Pro1524His)
c.4586C>A (p.Pro1529His)
n.1260C>A
c.4766C>A (p.Pro1589His)
c.4700C>A (p.Pro1567His)
c.4763C>A (p.Pro1588His)
c.4760C>A (p.Pro1587His)
c.4706C>A (p.Pro1569His)
c.4631C>A (p.Pro1544His)
c.4226C>A (p.Pro1409His)
c.3584C>A (p.Pro1195His)
c.1094C>A (p.Pro365His)
n.5009C>A
10g.71740904C=CA1918853862CDH23c.4571C= (p.Pro1524=)
c.4586C= (p.Pro1529=)
n.1260C=
c.4766C= (p.Pro1589=)
c.4700C= (p.Pro1567=)
c.4763C= (p.Pro1588=)
c.4760C= (p.Pro1587=)
c.4706C= (p.Pro1569=)
c.4631C= (p.Pro1544=)
c.4226C= (p.Pro1409=)
c.3584C= (p.Pro1195=)
c.1094C= (p.Pro365=)
n.5009C=
10g.71740904C>GCA377160630CDH23c.4571C>G (p.Pro1524Arg)
c.4586C>G (p.Pro1529Arg)
n.1260C>G
c.4766C>G (p.Pro1589Arg)
c.4700C>G (p.Pro1567Arg)
c.4763C>G (p.Pro1588Arg)
c.4760C>G (p.Pro1587Arg)
c.4706C>G (p.Pro1569Arg)
c.4631C>G (p.Pro1544Arg)
c.4226C>G (p.Pro1409Arg)
c.3584C>G (p.Pro1195Arg)
c.1094C>G (p.Pro365Arg)
n.5009C>G
 ClinVar dbSNP
10g.71740904C>TCA377160631CDH23c.4571C>T (p.Pro1524Leu)
c.4586C>T (p.Pro1529Leu)
n.1260C>T
c.4766C>T (p.Pro1589Leu)
c.4700C>T (p.Pro1567Leu)
c.4763C>T (p.Pro1588Leu)
c.4760C>T (p.Pro1587Leu)
c.4706C>T (p.Pro1569Leu)
c.4631C>T (p.Pro1544Leu)
c.4226C>T (p.Pro1409Leu)
c.3584C>T (p.Pro1195Leu)
c.1094C>T (p.Pro365Leu)
n.5009C>T
 dbSNP gnomAD v4
10g.71740905T>ACA470069237CDH23c.4572T>A (p.Pro1524=)
c.4587T>A (p.Pro1529=)
n.1261T>A
c.4767T>A (p.Pro1589=)
c.4701T>A (p.Pro1567=)
c.4764T>A (p.Pro1588=)
c.4761T>A (p.Pro1587=)
c.4707T>A (p.Pro1569=)
c.4632T>A (p.Pro1544=)
c.4227T>A (p.Pro1409=)
c.3585T>A (p.Pro1195=)
c.1095T>A (p.Pro365=)
n.5010T>A
10g.71740905T>CCA470069239CDH23c.4572T>C (p.Pro1524=)
c.4587T>C (p.Pro1529=)
n.1261T>C
c.4767T>C (p.Pro1589=)
c.4701T>C (p.Pro1567=)
c.4764T>C (p.Pro1588=)
c.4761T>C (p.Pro1587=)
c.4707T>C (p.Pro1569=)
c.4632T>C (p.Pro1544=)
c.4227T>C (p.Pro1409=)
c.3585T>C (p.Pro1195=)
c.1095T>C (p.Pro365=)
n.5010T>C
10g.71740905T>GCA470069238CDH23c.4572T>G (p.Pro1524=)
c.4587T>G (p.Pro1529=)
n.1261T>G
c.4767T>G (p.Pro1589=)
c.4701T>G (p.Pro1567=)
c.4764T>G (p.Pro1588=)
c.4761T>G (p.Pro1587=)
c.4707T>G (p.Pro1569=)
c.4632T>G (p.Pro1544=)
c.4227T>G (p.Pro1409=)
c.3585T>G (p.Pro1195=)
c.1095T>G (p.Pro365=)
n.5010T>G
10g.71740906C>ACA377160633CDH23c.4573C>A (p.Pro1525Thr)
c.4588C>A (p.Pro1530Thr)
n.1262C>A
c.4768C>A (p.Pro1590Thr)
c.4702C>A (p.Pro1568Thr)
c.4765C>A (p.Pro1589Thr)
c.4762C>A (p.Pro1588Thr)
c.4708C>A (p.Pro1570Thr)
c.4633C>A (p.Pro1545Thr)
c.4228C>A (p.Pro1410Thr)
c.3586C>A (p.Pro1196Thr)
c.1096C>A (p.Pro366Thr)
n.5011C>A
10g.71740906C=CA1918853863CDH23c.4573C= (p.Pro1525=)
c.4588C= (p.Pro1530=)
n.1262C=
c.4768C= (p.Pro1590=)
c.4702C= (p.Pro1568=)
c.4765C= (p.Pro1589=)
c.4762C= (p.Pro1588=)
c.4708C= (p.Pro1570=)
c.4633C= (p.Pro1545=)
c.4228C= (p.Pro1410=)
c.3586C= (p.Pro1196=)
c.1096C= (p.Pro366=)
n.5011C=
10g.71740906C>GCA377160635CDH23c.4573C>G (p.Pro1525Ala)
c.4588C>G (p.Pro1530Ala)
n.1262C>G
c.4768C>G (p.Pro1590Ala)
c.4702C>G (p.Pro1568Ala)
c.4765C>G (p.Pro1589Ala)
c.4762C>G (p.Pro1588Ala)
c.4708C>G (p.Pro1570Ala)
c.4633C>G (p.Pro1545Ala)
c.4228C>G (p.Pro1410Ala)
c.3586C>G (p.Pro1196Ala)
c.1096C>G (p.Pro366Ala)
n.5011C>G
10g.71740906C>TCA377160637CDH23c.4573C>T (p.Pro1525Ser)
c.4588C>T (p.Pro1530Ser)
n.1262C>T
c.4768C>T (p.Pro1590Ser)
c.4702C>T (p.Pro1568Ser)
c.4765C>T (p.Pro1589Ser)
c.4762C>T (p.Pro1588Ser)
c.4708C>T (p.Pro1570Ser)
c.4633C>T (p.Pro1545Ser)
c.4228C>T (p.Pro1410Ser)
c.3586C>T (p.Pro1196Ser)
c.1096C>T (p.Pro366Ser)
n.5011C>T
 dbSNP gnomAD v3 gnomAD v4
10g.71740907C>ACA377160639CDH23c.4574C>A (p.Pro1525Gln)
c.4589C>A (p.Pro1530Gln)
n.1263C>A
c.4769C>A (p.Pro1590Gln)
c.4703C>A (p.Pro1568Gln)
c.4766C>A (p.Pro1589Gln)
c.4763C>A (p.Pro1588Gln)
c.4709C>A (p.Pro1570Gln)
c.4634C>A (p.Pro1545Gln)
c.4229C>A (p.Pro1410Gln)
c.3587C>A (p.Pro1196Gln)
c.1097C>A (p.Pro366Gln)
n.5012C>A
10g.71740907C>GCA377160641CDH23c.4574C>G (p.Pro1525Arg)
c.4589C>G (p.Pro1530Arg)
n.1263C>G
c.4769C>G (p.Pro1590Arg)
c.4703C>G (p.Pro1568Arg)
c.4766C>G (p.Pro1589Arg)
c.4763C>G (p.Pro1588Arg)
c.4709C>G (p.Pro1570Arg)
c.4634C>G (p.Pro1545Arg)
c.4229C>G (p.Pro1410Arg)
c.3587C>G (p.Pro1196Arg)
c.1097C>G (p.Pro366Arg)
n.5012C>G
 dbSNP
10g.71740907C>TCA377160643CDH23c.4574C>T (p.Pro1525Leu)
c.4589C>T (p.Pro1530Leu)
n.1263C>T
c.4769C>T (p.Pro1590Leu)
c.4703C>T (p.Pro1568Leu)
c.4766C>T (p.Pro1589Leu)
c.4763C>T (p.Pro1588Leu)
c.4709C>T (p.Pro1570Leu)
c.4634C>T (p.Pro1545Leu)
c.4229C>T (p.Pro1410Leu)
c.3587C>T (p.Pro1196Leu)
c.1097C>T (p.Pro366Leu)
n.5012C>T
10g.71740908A>CCA470069240CDH23c.4575A>C (p.Pro1525=)
c.4590A>C (p.Pro1530=)
n.1264A>C
c.4770A>C (p.Pro1590=)
c.4704A>C (p.Pro1568=)
c.4767A>C (p.Pro1589=)
c.4764A>C (p.Pro1588=)
c.4710A>C (p.Pro1570=)
c.4635A>C (p.Pro1545=)
c.4230A>C (p.Pro1410=)
c.3588A>C (p.Pro1196=)
c.1098A>C (p.Pro366=)
n.5013A>C
10g.71740908A>GCA470069241CDH23c.4575A>G (p.Pro1525=)
c.4590A>G (p.Pro1530=)
n.1264A>G
c.4770A>G (p.Pro1590=)
c.4704A>G (p.Pro1568=)
c.4767A>G (p.Pro1589=)
c.4764A>G (p.Pro1588=)
c.4710A>G (p.Pro1570=)
c.4635A>G (p.Pro1545=)
c.4230A>G (p.Pro1410=)
c.3588A>G (p.Pro1196=)
c.1098A>G (p.Pro366=)
n.5013A>G
 ClinVar
10g.71740908A>TCA470069242CDH23c.4575A>T (p.Pro1525=)
c.4590A>T (p.Pro1530=)
n.1264A>T
c.4770A>T (p.Pro1590=)
c.4704A>T (p.Pro1568=)
c.4767A>T (p.Pro1589=)
c.4764A>T (p.Pro1588=)
c.4710A>T (p.Pro1570=)
c.4635A>T (p.Pro1545=)
c.4230A>T (p.Pro1410=)
c.3588A>T (p.Pro1196=)
c.1098A>T (p.Pro366=)
n.5013A>T
10g.71740909G>ACA377160644CDH23c.4576G>A (p.Val1526Ile)
c.4591G>A (p.Val1531Ile)
n.1265G>A
c.4771G>A (p.Val1591Ile)
c.4705G>A (p.Val1569Ile)
c.4768G>A (p.Val1590Ile)
c.4765G>A (p.Val1589Ile)
c.4711G>A (p.Val1571Ile)
c.4636G>A (p.Val1546Ile)
c.4231G>A (p.Val1411Ile)
c.3589G>A (p.Val1197Ile)
c.1099G>A (p.Val367Ile)
n.5014G>A
10g.71740909G>CCA377160647CDH23c.4576G>C (p.Val1526Leu)
c.4591G>C (p.Val1531Leu)
n.1265G>C
c.4771G>C (p.Val1591Leu)
c.4705G>C (p.Val1569Leu)
c.4768G>C (p.Val1590Leu)
c.4765G>C (p.Val1589Leu)
c.4711G>C (p.Val1571Leu)
c.4636G>C (p.Val1546Leu)
c.4231G>C (p.Val1411Leu)
c.3589G>C (p.Val1197Leu)
c.1099G>C (p.Val367Leu)
n.5014G>C
10g.71740909G>TCA377160648CDH23c.4576G>T (p.Val1526Phe)
c.4591G>T (p.Val1531Phe)
n.1265G>T
c.4771G>T (p.Val1591Phe)
c.4705G>T (p.Val1569Phe)
c.4768G>T (p.Val1590Phe)
c.4765G>T (p.Val1589Phe)
c.4711G>T (p.Val1571Phe)
c.4636G>T (p.Val1546Phe)
c.4231G>T (p.Val1411Phe)
c.3589G>T (p.Val1197Phe)
c.1099G>T (p.Val367Phe)
n.5014G>T
10g.71740910T>ACA377160654CDH23c.4577T>A (p.Val1526Asp)
c.4592T>A (p.Val1531Asp)
n.1266T>A
c.4772T>A (p.Val1591Asp)
c.4706T>A (p.Val1569Asp)
c.4769T>A (p.Val1590Asp)
c.4766T>A (p.Val1589Asp)
c.4712T>A (p.Val1571Asp)
c.4637T>A (p.Val1546Asp)
c.4232T>A (p.Val1411Asp)
c.3590T>A (p.Val1197Asp)
c.1100T>A (p.Val367Asp)
n.5015T>A
10g.71740910T>CCA377160655CDH23c.4577T>C (p.Val1526Ala)
c.4592T>C (p.Val1531Ala)
n.1266T>C
c.4772T>C (p.Val1591Ala)
c.4706T>C (p.Val1569Ala)
c.4769T>C (p.Val1590Ala)
c.4766T>C (p.Val1589Ala)
c.4712T>C (p.Val1571Ala)
c.4637T>C (p.Val1546Ala)
c.4232T>C (p.Val1411Ala)
c.3590T>C (p.Val1197Ala)
c.1100T>C (p.Val367Ala)
n.5015T>C
10g.71740910T>GCA377160653CDH23c.4577T>G (p.Val1526Gly)
c.4592T>G (p.Val1531Gly)
n.1266T>G
c.4772T>G (p.Val1591Gly)
c.4706T>G (p.Val1569Gly)
c.4769T>G (p.Val1590Gly)
c.4766T>G (p.Val1589Gly)
c.4712T>G (p.Val1571Gly)
c.4637T>G (p.Val1546Gly)
c.4232T>G (p.Val1411Gly)
c.3590T>G (p.Val1197Gly)
c.1100T>G (p.Val367Gly)
n.5015T>G
10g.71740911C>ACA470069243CDH23c.4578C>A (p.Val1526=)
c.4593C>A (p.Val1531=)
n.1267C>A
c.4773C>A (p.Val1591=)
c.4707C>A (p.Val1569=)
c.4770C>A (p.Val1590=)
c.4767C>A (p.Val1589=)
c.4713C>A (p.Val1571=)
c.4638C>A (p.Val1546=)
c.4233C>A (p.Val1411=)
c.3591C>A (p.Val1197=)
c.1101C>A (p.Val367=)
n.5016C>A
10g.71740911C>GCA470069244CDH23c.4578C>G (p.Val1526=)
c.4593C>G (p.Val1531=)
n.1267C>G
c.4773C>G (p.Val1591=)
c.4707C>G (p.Val1569=)
c.4770C>G (p.Val1590=)
c.4767C>G (p.Val1589=)
c.4713C>G (p.Val1571=)
c.4638C>G (p.Val1546=)
c.4233C>G (p.Val1411=)
c.3591C>G (p.Val1197=)
c.1101C>G (p.Val367=)
n.5016C>G
10g.71740911C>TCA470069245CDH23c.4578C>T (p.Val1526=)
c.4593C>T (p.Val1531=)
n.1267C>T
c.4773C>T (p.Val1591=)
c.4707C>T (p.Val1569=)
c.4770C>T (p.Val1590=)
c.4767C>T (p.Val1589=)
c.4713C>T (p.Val1571=)
c.4638C>T (p.Val1546=)
c.4233C>T (p.Val1411=)
c.3591C>T (p.Val1197=)
c.1101C>T (p.Val367=)
n.5016C>T
 gnomAD v4
10g.71740912A=CA1918853864CDH23c.4579A= (p.Ile1527=)
c.4594A= (p.Ile1532=)
n.1268A=
c.4774A= (p.Ile1592=)
c.4708A= (p.Ile1570=)
c.4771A= (p.Ile1591=)
c.4768A= (p.Ile1590=)
c.4714A= (p.Ile1572=)
c.4639A= (p.Ile1547=)
c.4234A= (p.Ile1412=)
c.3592A= (p.Ile1198=)
c.1102A= (p.Ile368=)
n.5017A=
10g.71740912A>CCA377160658CDH23c.4579A>C (p.Ile1527Leu)
c.4594A>C (p.Ile1532Leu)
n.1268A>C
c.4774A>C (p.Ile1592Leu)
c.4708A>C (p.Ile1570Leu)
c.4771A>C (p.Ile1591Leu)
c.4768A>C (p.Ile1590Leu)
c.4714A>C (p.Ile1572Leu)
c.4639A>C (p.Ile1547Leu)
c.4234A>C (p.Ile1412Leu)
c.3592A>C (p.Ile1198Leu)
c.1102A>C (p.Ile368Leu)
n.5017A>C
10g.71740912A>GCA377160660CDH23c.4579A>G (p.Ile1527Val)
c.4594A>G (p.Ile1532Val)
n.1268A>G
c.4774A>G (p.Ile1592Val)
c.4708A>G (p.Ile1570Val)
c.4771A>G (p.Ile1591Val)
c.4768A>G (p.Ile1590Val)
c.4714A>G (p.Ile1572Val)
c.4639A>G (p.Ile1547Val)
c.4234A>G (p.Ile1412Val)
c.3592A>G (p.Ile1198Val)
c.1102A>G (p.Ile368Val)
n.5017A>G
 dbSNP gnomAD v4
10g.71740912A>TCA377160661CDH23c.4579A>T (p.Ile1527Phe)
c.4594A>T (p.Ile1532Phe)
n.1268A>T
c.4774A>T (p.Ile1592Phe)
c.4708A>T (p.Ile1570Phe)
c.4771A>T (p.Ile1591Phe)
c.4768A>T (p.Ile1590Phe)
c.4714A>T (p.Ile1572Phe)
c.4639A>T (p.Ile1547Phe)
c.4234A>T (p.Ile1412Phe)
c.3592A>T (p.Ile1198Phe)
c.1102A>T (p.Ile368Phe)
n.5017A>T
10g.71740913T>ACA377160663CDH23c.4580T>A (p.Ile1527Asn)
c.4595T>A (p.Ile1532Asn)
n.1269T>A
c.4775T>A (p.Ile1592Asn)
c.4709T>A (p.Ile1570Asn)
c.4772T>A (p.Ile1591Asn)
c.4769T>A (p.Ile1590Asn)
c.4715T>A (p.Ile1572Asn)
c.4640T>A (p.Ile1547Asn)
c.4235T>A (p.Ile1412Asn)
c.3593T>A (p.Ile1198Asn)
c.1103T>A (p.Ile368Asn)
n.5018T>A
10g.71740913T>CCA377160665CDH23c.4580T>C (p.Ile1527Thr)
c.4595T>C (p.Ile1532Thr)
n.1269T>C
c.4775T>C (p.Ile1592Thr)
c.4709T>C (p.Ile1570Thr)
c.4772T>C (p.Ile1591Thr)
c.4769T>C (p.Ile1590Thr)
c.4715T>C (p.Ile1572Thr)
c.4640T>C (p.Ile1547Thr)
c.4235T>C (p.Ile1412Thr)
c.3593T>C (p.Ile1198Thr)
c.1103T>C (p.Ile368Thr)
n.5018T>C
10g.71740913T>GCA377160666CDH23c.4580T>G (p.Ile1527Ser)
c.4595T>G (p.Ile1532Ser)
n.1269T>G
c.4775T>G (p.Ile1592Ser)
c.4709T>G (p.Ile1570Ser)
c.4772T>G (p.Ile1591Ser)
c.4769T>G (p.Ile1590Ser)
c.4715T>G (p.Ile1572Ser)
c.4640T>G (p.Ile1547Ser)
c.4235T>G (p.Ile1412Ser)
c.3593T>G (p.Ile1198Ser)
c.1103T>G (p.Ile368Ser)
n.5018T>G
10g.71740914C>ACA470069246CDH23c.4581C>A (p.Ile1527=)
c.4596C>A (p.Ile1532=)
n.1270C>A
c.4776C>A (p.Ile1592=)
c.4710C>A (p.Ile1570=)
c.4773C>A (p.Ile1591=)
c.4770C>A (p.Ile1590=)
c.4716C>A (p.Ile1572=)
c.4641C>A (p.Ile1547=)
c.4236C>A (p.Ile1412=)
c.3594C>A (p.Ile1198=)
c.1104C>A (p.Ile368=)
n.5019C>A
10g.71740914C=CA1918853865CDH23c.4581C= (p.Ile1527=)
c.4596C= (p.Ile1532=)
n.1270C=
c.4776C= (p.Ile1592=)
c.4710C= (p.Ile1570=)
c.4773C= (p.Ile1591=)
c.4770C= (p.Ile1590=)
c.4716C= (p.Ile1572=)
c.4641C= (p.Ile1547=)
c.4236C= (p.Ile1412=)
c.3594C= (p.Ile1198=)
c.1104C= (p.Ile368=)
n.5019C=
10g.71740914C>GCA377160667CDH23c.4581C>G (p.Ile1527Met)
c.4596C>G (p.Ile1532Met)
n.1270C>G
c.4776C>G (p.Ile1592Met)
c.4710C>G (p.Ile1570Met)
c.4773C>G (p.Ile1591Met)
c.4770C>G (p.Ile1590Met)
c.4716C>G (p.Ile1572Met)
c.4641C>G (p.Ile1547Met)
c.4236C>G (p.Ile1412Met)
c.3594C>G (p.Ile1198Met)
c.1104C>G (p.Ile368Met)
n.5019C>G
10g.71740914C>TCA5545094CDH23c.4581C>T (p.Ile1527=)
c.4596C>T (p.Ile1532=)
n.1270C>T
c.4776C>T (p.Ile1592=)
c.4710C>T (p.Ile1570=)
c.4773C>T (p.Ile1591=)
c.4770C>T (p.Ile1590=)
c.4716C>T (p.Ile1572=)
c.4641C>T (p.Ile1547=)
c.4236C>T (p.Ile1412=)
c.3594C>T (p.Ile1198=)
c.1104C>T (p.Ile368=)
n.5019C>T
 ClinVar dbSNP ExAC gnomAD v4
10g.71740915G>ACA5545095CDH23c.4582G>A (p.Glu1528Lys)
c.4597G>A (p.Glu1533Lys)
n.1271G>A
c.4777G>A (p.Glu1593Lys)
c.4711G>A (p.Glu1571Lys)
c.4774G>A (p.Glu1592Lys)
c.4771G>A (p.Glu1591Lys)
c.4717G>A (p.Glu1573Lys)
c.4642G>A (p.Glu1548Lys)
c.4237G>A (p.Glu1413Lys)
c.3595G>A (p.Glu1199Lys)
c.1105G>A (p.Glu369Lys)
n.5020G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740915G>CCA377160669CDH23c.4582G>C (p.Glu1528Gln)
c.4597G>C (p.Glu1533Gln)
n.1271G>C
c.4777G>C (p.Glu1593Gln)
c.4711G>C (p.Glu1571Gln)
c.4774G>C (p.Glu1592Gln)
c.4771G>C (p.Glu1591Gln)
c.4717G>C (p.Glu1573Gln)
c.4642G>C (p.Glu1548Gln)
c.4237G>C (p.Glu1413Gln)
c.3595G>C (p.Glu1199Gln)
c.1105G>C (p.Glu369Gln)
n.5020G>C
10g.71740915G=CA1918853866CDH23c.4582G= (p.Glu1528=)
c.4597G= (p.Glu1533=)
n.1271G=
c.4777G= (p.Glu1593=)
c.4711G= (p.Glu1571=)
c.4774G= (p.Glu1592=)
c.4771G= (p.Glu1591=)
c.4717G= (p.Glu1573=)
c.4642G= (p.Glu1548=)
c.4237G= (p.Glu1413=)
c.3595G= (p.Glu1199=)
c.1105G= (p.Glu369=)
n.5020G=
10g.71740915G>TCA377160671CDH23c.4582G>T (p.Glu1528Ter)
c.4597G>T (p.Glu1533Ter)
n.1271G>T
c.4777G>T (p.Glu1593Ter)
c.4711G>T (p.Glu1571Ter)
c.4774G>T (p.Glu1592Ter)
c.4771G>T (p.Glu1591Ter)
c.4717G>T (p.Glu1573Ter)
c.4642G>T (p.Glu1548Ter)
c.4237G>T (p.Glu1413Ter)
c.3595G>T (p.Glu1199Ter)
c.1105G>T (p.Glu369Ter)
n.5020G>T
10g.71740916A>CCA377160673CDH23c.4583A>C (p.Glu1528Ala)
c.4598A>C (p.Glu1533Ala)
n.1272A>C
c.4778A>C (p.Glu1593Ala)
c.4712A>C (p.Glu1571Ala)
c.4775A>C (p.Glu1592Ala)
c.4772A>C (p.Glu1591Ala)
c.4718A>C (p.Glu1573Ala)
c.4643A>C (p.Glu1548Ala)
c.4238A>C (p.Glu1413Ala)
c.3596A>C (p.Glu1199Ala)
c.1106A>C (p.Glu369Ala)
n.5021A>C
10g.71740916A>GCA377160674CDH23c.4583A>G (p.Glu1528Gly)
c.4598A>G (p.Glu1533Gly)
n.1272A>G
c.4778A>G (p.Glu1593Gly)
c.4712A>G (p.Glu1571Gly)
c.4775A>G (p.Glu1592Gly)
c.4772A>G (p.Glu1591Gly)
c.4718A>G (p.Glu1573Gly)
c.4643A>G (p.Glu1548Gly)
c.4238A>G (p.Glu1413Gly)
c.3596A>G (p.Glu1199Gly)
c.1106A>G (p.Glu369Gly)
n.5021A>G
10g.71740916A>TCA377160679CDH23c.4583A>T (p.Glu1528Val)
c.4598A>T (p.Glu1533Val)
n.1272A>T
c.4778A>T (p.Glu1593Val)
c.4712A>T (p.Glu1571Val)
c.4775A>T (p.Glu1592Val)
c.4772A>T (p.Glu1591Val)
c.4718A>T (p.Glu1573Val)
c.4643A>T (p.Glu1548Val)
c.4238A>T (p.Glu1413Val)
c.3596A>T (p.Glu1199Val)
c.1106A>T (p.Glu369Val)
n.5021A>T
10g.71740917G>ACA470069247CDH23c.4584G>A (p.Glu1528=)
c.4599G>A (p.Glu1533=)
n.1273G>A
c.4779G>A (p.Glu1593=)
c.4713G>A (p.Glu1571=)
c.4776G>A (p.Glu1592=)
c.4773G>A (p.Glu1591=)
c.4719G>A (p.Glu1573=)
c.4644G>A (p.Glu1548=)
c.4239G>A (p.Glu1413=)
c.3597G>A (p.Glu1199=)
c.1107G>A (p.Glu369=)
n.5022G>A
 ClinVar
10g.71740917G>CCA377160683CDH23c.4584G>C (p.Glu1528Asp)
c.4599G>C (p.Glu1533Asp)
n.1273G>C
c.4779G>C (p.Glu1593Asp)
c.4713G>C (p.Glu1571Asp)
c.4776G>C (p.Glu1592Asp)
c.4773G>C (p.Glu1591Asp)
c.4719G>C (p.Glu1573Asp)
c.4644G>C (p.Glu1548Asp)
c.4239G>C (p.Glu1413Asp)
c.3597G>C (p.Glu1199Asp)
c.1107G>C (p.Glu369Asp)
n.5022G>C
10g.71740917G>TCA377160682CDH23c.4584G>T (p.Glu1528Asp)
c.4599G>T (p.Glu1533Asp)
n.1273G>T
c.4779G>T (p.Glu1593Asp)
c.4713G>T (p.Glu1571Asp)
c.4776G>T (p.Glu1592Asp)
c.4773G>T (p.Glu1591Asp)
c.4719G>T (p.Glu1573Asp)
c.4644G>T (p.Glu1548Asp)
c.4239G>T (p.Glu1413Asp)
c.3597G>T (p.Glu1199Asp)
c.1107G>T (p.Glu369Asp)
n.5022G>T
10g.71740918A>CCA377160686CDH23c.4585A>C (p.Ser1529Arg)
c.4600A>C (p.Ser1534Arg)
n.1274A>C
c.4780A>C (p.Ser1594Arg)
c.4714A>C (p.Ser1572Arg)
c.4777A>C (p.Ser1593Arg)
c.4774A>C (p.Ser1592Arg)
c.4720A>C (p.Ser1574Arg)
c.4645A>C (p.Ser1549Arg)
c.4240A>C (p.Ser1414Arg)
c.3598A>C (p.Ser1200Arg)
c.1108A>C (p.Ser370Arg)
n.5023A>C
10g.71740918A>GCA377160690CDH23c.4585A>G (p.Ser1529Gly)
c.4600A>G (p.Ser1534Gly)
n.1274A>G
c.4780A>G (p.Ser1594Gly)
c.4714A>G (p.Ser1572Gly)
c.4777A>G (p.Ser1593Gly)
c.4774A>G (p.Ser1592Gly)
c.4720A>G (p.Ser1574Gly)
c.4645A>G (p.Ser1549Gly)
c.4240A>G (p.Ser1414Gly)
c.3598A>G (p.Ser1200Gly)
c.1108A>G (p.Ser370Gly)
n.5023A>G
10g.71740918A>TCA377160688CDH23c.4585A>T (p.Ser1529Cys)
c.4600A>T (p.Ser1534Cys)
n.1274A>T
c.4780A>T (p.Ser1594Cys)
c.4714A>T (p.Ser1572Cys)
c.4777A>T (p.Ser1593Cys)
c.4774A>T (p.Ser1592Cys)
c.4720A>T (p.Ser1574Cys)
c.4645A>T (p.Ser1549Cys)
c.4240A>T (p.Ser1414Cys)
c.3598A>T (p.Ser1200Cys)
c.1108A>T (p.Ser370Cys)
n.5023A>T
10g.71740919G>ACA377160692CDH23c.4586G>A (p.Ser1529Asn)
c.4601G>A (p.Ser1534Asn)
n.1275G>A
c.4781G>A (p.Ser1594Asn)
c.4715G>A (p.Ser1572Asn)
c.4778G>A (p.Ser1593Asn)
c.4775G>A (p.Ser1592Asn)
c.4721G>A (p.Ser1574Asn)
c.4646G>A (p.Ser1549Asn)
c.4241G>A (p.Ser1414Asn)
c.3599G>A (p.Ser1200Asn)
c.1109G>A (p.Ser370Asn)
n.5024G>A
 dbSNP gnomAD v4
10g.71740919G>CCA377160695CDH23c.4586G>C (p.Ser1529Thr)
c.4601G>C (p.Ser1534Thr)
n.1275G>C
c.4781G>C (p.Ser1594Thr)
c.4715G>C (p.Ser1572Thr)
c.4778G>C (p.Ser1593Thr)
c.4775G>C (p.Ser1592Thr)
c.4721G>C (p.Ser1574Thr)
c.4646G>C (p.Ser1549Thr)
c.4241G>C (p.Ser1414Thr)
c.3599G>C (p.Ser1200Thr)
c.1109G>C (p.Ser370Thr)
n.5024G>C
 gnomAD v4
10g.71740919G>TCA377160694CDH23c.4586G>T (p.Ser1529Ile)
c.4601G>T (p.Ser1534Ile)
n.1275G>T
c.4781G>T (p.Ser1594Ile)
c.4715G>T (p.Ser1572Ile)
c.4778G>T (p.Ser1593Ile)
c.4775G>T (p.Ser1592Ile)
c.4721G>T (p.Ser1574Ile)
c.4646G>T (p.Ser1549Ile)
c.4241G>T (p.Ser1414Ile)
c.3599G>T (p.Ser1200Ile)
c.1109G>T (p.Ser370Ile)
n.5024G>T
10g.71740920C>ACA377160697CDH23c.4587C>A (p.Ser1529Arg)
c.4602C>A (p.Ser1534Arg)
n.1276C>A
c.4782C>A (p.Ser1594Arg)
c.4716C>A (p.Ser1572Arg)
c.4779C>A (p.Ser1593Arg)
c.4776C>A (p.Ser1592Arg)
c.4722C>A (p.Ser1574Arg)
c.4647C>A (p.Ser1549Arg)
c.4242C>A (p.Ser1414Arg)
c.3600C>A (p.Ser1200Arg)
c.1110C>A (p.Ser370Arg)
n.5025C>A
10g.71740920C>GCA377160699CDH23c.4587C>G (p.Ser1529Arg)
c.4602C>G (p.Ser1534Arg)
n.1276C>G
c.4782C>G (p.Ser1594Arg)
c.4716C>G (p.Ser1572Arg)
c.4779C>G (p.Ser1593Arg)
c.4776C>G (p.Ser1592Arg)
c.4722C>G (p.Ser1574Arg)
c.4647C>G (p.Ser1549Arg)
c.4242C>G (p.Ser1414Arg)
c.3600C>G (p.Ser1200Arg)
c.1110C>G (p.Ser370Arg)
n.5025C>G
10g.71740920C>TCA470069248CDH23c.4587C>T (p.Ser1529=)
c.4602C>T (p.Ser1534=)
n.1276C>T
c.4782C>T (p.Ser1594=)
c.4716C>T (p.Ser1572=)
c.4779C>T (p.Ser1593=)
c.4776C>T (p.Ser1592=)
c.4722C>T (p.Ser1574=)
c.4647C>T (p.Ser1549=)
c.4242C>T (p.Ser1414=)
c.3600C>T (p.Ser1200=)
c.1110C>T (p.Ser370=)
n.5025C>T
10g.71740921C>ACA377160700CDH23c.4588C>A (p.Pro1530Thr)
c.4603C>A (p.Pro1535Thr)
n.1277C>A
c.4783C>A (p.Pro1595Thr)
c.4717C>A (p.Pro1573Thr)
c.4780C>A (p.Pro1594Thr)
c.4777C>A (p.Pro1593Thr)
c.4723C>A (p.Pro1575Thr)
c.4648C>A (p.Pro1550Thr)
c.4243C>A (p.Pro1415Thr)
c.3601C>A (p.Pro1201Thr)
c.1111C>A (p.Pro371Thr)
n.5026C>A
 ClinVar dbSNP
10g.71740921C>GCA377160701CDH23c.4588C>G (p.Pro1530Ala)
c.4603C>G (p.Pro1535Ala)
n.1277C>G
c.4783C>G (p.Pro1595Ala)
c.4717C>G (p.Pro1573Ala)
c.4780C>G (p.Pro1594Ala)
c.4777C>G (p.Pro1593Ala)
c.4723C>G (p.Pro1575Ala)
c.4648C>G (p.Pro1550Ala)
c.4243C>G (p.Pro1415Ala)
c.3601C>G (p.Pro1201Ala)
c.1111C>G (p.Pro371Ala)
n.5026C>G
10g.71740921C>TCA377160703CDH23c.4588C>T (p.Pro1530Ser)
c.4603C>T (p.Pro1535Ser)
n.1277C>T
c.4783C>T (p.Pro1595Ser)
c.4717C>T (p.Pro1573Ser)
c.4780C>T (p.Pro1594Ser)
c.4777C>T (p.Pro1593Ser)
c.4723C>T (p.Pro1575Ser)
c.4648C>T (p.Pro1550Ser)
c.4243C>T (p.Pro1415Ser)
c.3601C>T (p.Pro1201Ser)
c.1111C>T (p.Pro371Ser)
n.5026C>T
10g.71740922C>ACA377160705CDH23c.4589C>A (p.Pro1530His)
c.4604C>A (p.Pro1535His)
n.1278C>A
c.4784C>A (p.Pro1595His)
c.4718C>A (p.Pro1573His)
c.4781C>A (p.Pro1594His)
c.4778C>A (p.Pro1593His)
c.4724C>A (p.Pro1575His)
c.4649C>A (p.Pro1550His)
c.4244C>A (p.Pro1415His)
c.3602C>A (p.Pro1201His)
c.1112C>A (p.Pro371His)
n.5027C>A
10g.71740922C=CA1918853867CDH23c.4589C= (p.Pro1530=)
c.4604C= (p.Pro1535=)
n.1278C=
c.4784C= (p.Pro1595=)
c.4718C= (p.Pro1573=)
c.4781C= (p.Pro1594=)
c.4778C= (p.Pro1593=)
c.4724C= (p.Pro1575=)
c.4649C= (p.Pro1550=)
c.4244C= (p.Pro1415=)
c.3602C= (p.Pro1201=)
c.1112C= (p.Pro371=)
n.5027C=
10g.71740922C>GCA377160707CDH23c.4589C>G (p.Pro1530Arg)
c.4604C>G (p.Pro1535Arg)
n.1278C>G
c.4784C>G (p.Pro1595Arg)
c.4718C>G (p.Pro1573Arg)
c.4781C>G (p.Pro1594Arg)
c.4778C>G (p.Pro1593Arg)
c.4724C>G (p.Pro1575Arg)
c.4649C>G (p.Pro1550Arg)
c.4244C>G (p.Pro1415Arg)
c.3602C>G (p.Pro1201Arg)
c.1112C>G (p.Pro371Arg)
n.5027C>G
10g.71740922C>TCA184239CDH23c.4589C>T (p.Pro1530Leu)
c.4604C>T (p.Pro1535Leu)
n.1278C>T
c.4784C>T (p.Pro1595Leu)
c.4718C>T (p.Pro1573Leu)
c.4781C>T (p.Pro1594Leu)
c.4778C>T (p.Pro1593Leu)
c.4724C>T (p.Pro1575Leu)
c.4649C>T (p.Pro1550Leu)
c.4244C>T (p.Pro1415Leu)
c.3602C>T (p.Pro1201Leu)
c.1112C>T (p.Pro371Leu)
n.5027C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740923C>ACA470069249CDH23c.4590C>A (p.Pro1530=)
c.4605C>A (p.Pro1535=)
n.1279C>A
c.4785C>A (p.Pro1595=)
c.4719C>A (p.Pro1573=)
c.4782C>A (p.Pro1594=)
c.4779C>A (p.Pro1593=)
c.4725C>A (p.Pro1575=)
c.4650C>A (p.Pro1550=)
c.4245C>A (p.Pro1415=)
c.3603C>A (p.Pro1201=)
c.1113C>A (p.Pro371=)
n.5028C>A
10g.71740923C>GCA470069250CDH23c.4590C>G (p.Pro1530=)
c.4605C>G (p.Pro1535=)
n.1279C>G
c.4785C>G (p.Pro1595=)
c.4719C>G (p.Pro1573=)
c.4782C>G (p.Pro1594=)
c.4779C>G (p.Pro1593=)
c.4725C>G (p.Pro1575=)
c.4650C>G (p.Pro1550=)
c.4245C>G (p.Pro1415=)
c.3603C>G (p.Pro1201=)
c.1113C>G (p.Pro371=)
n.5028C>G
10g.71740923C>TCA470069251CDH23c.4590C>T (p.Pro1530=)
c.4605C>T (p.Pro1535=)
n.1279C>T
c.4785C>T (p.Pro1595=)
c.4719C>T (p.Pro1573=)
c.4782C>T (p.Pro1594=)
c.4779C>T (p.Pro1593=)
c.4725C>T (p.Pro1575=)
c.4650C>T (p.Pro1550=)
c.4245C>T (p.Pro1415=)
c.3603C>T (p.Pro1201=)
c.1113C>T (p.Pro371=)
n.5028C>T
10g.71740924T>ACA377160716CDH23c.4591T>A (p.Phe1531Ile)
c.4606T>A (p.Phe1536Ile)
n.1280T>A
c.4786T>A (p.Phe1596Ile)
c.4720T>A (p.Phe1574Ile)
c.4783T>A (p.Phe1595Ile)
c.4780T>A (p.Phe1594Ile)
c.4726T>A (p.Phe1576Ile)
c.4651T>A (p.Phe1551Ile)
c.4246T>A (p.Phe1416Ile)
c.3604T>A (p.Phe1202Ile)
c.1114T>A (p.Phe372Ile)
n.5029T>A
10g.71740924T>CCA377160718CDH23c.4591T>C (p.Phe1531Leu)
c.4606T>C (p.Phe1536Leu)
n.1280T>C
c.4786T>C (p.Phe1596Leu)
c.4720T>C (p.Phe1574Leu)
c.4783T>C (p.Phe1595Leu)
c.4780T>C (p.Phe1594Leu)
c.4726T>C (p.Phe1576Leu)
c.4651T>C (p.Phe1551Leu)
c.4246T>C (p.Phe1416Leu)
c.3604T>C (p.Phe1202Leu)
c.1114T>C (p.Phe372Leu)
n.5029T>C
 gnomAD v4
10g.71740924T>GCA377160724CDH23c.4591T>G (p.Phe1531Val)
c.4606T>G (p.Phe1536Val)
n.1280T>G
c.4786T>G (p.Phe1596Val)
c.4720T>G (p.Phe1574Val)
c.4783T>G (p.Phe1595Val)
c.4780T>G (p.Phe1594Val)
c.4726T>G (p.Phe1576Val)
c.4651T>G (p.Phe1551Val)
c.4246T>G (p.Phe1416Val)
c.3604T>G (p.Phe1202Val)
c.1114T>G (p.Phe372Val)
n.5029T>G
10g.71740925T>ACA377160728CDH23c.4592T>A (p.Phe1531Tyr)
c.4607T>A (p.Phe1536Tyr)
n.1281T>A
c.4787T>A (p.Phe1596Tyr)
c.4721T>A (p.Phe1574Tyr)
c.4784T>A (p.Phe1595Tyr)
c.4781T>A (p.Phe1594Tyr)
c.4727T>A (p.Phe1576Tyr)
c.4652T>A (p.Phe1551Tyr)
c.4247T>A (p.Phe1416Tyr)
c.3605T>A (p.Phe1202Tyr)
c.1115T>A (p.Phe372Tyr)
n.5030T>A
10g.71740925T>CCA377160727CDH23c.4592T>C (p.Phe1531Ser)
c.4607T>C (p.Phe1536Ser)
n.1281T>C
c.4787T>C (p.Phe1596Ser)
c.4721T>C (p.Phe1574Ser)
c.4784T>C (p.Phe1595Ser)
c.4781T>C (p.Phe1594Ser)
c.4727T>C (p.Phe1576Ser)
c.4652T>C (p.Phe1551Ser)
c.4247T>C (p.Phe1416Ser)
c.3605T>C (p.Phe1202Ser)
c.1115T>C (p.Phe372Ser)
n.5030T>C
10g.71740925T>GCA377160725CDH23c.4592T>G (p.Phe1531Cys)
c.4607T>G (p.Phe1536Cys)
n.1281T>G
c.4787T>G (p.Phe1596Cys)
c.4721T>G (p.Phe1574Cys)
c.4784T>G (p.Phe1595Cys)
c.4781T>G (p.Phe1594Cys)
c.4727T>G (p.Phe1576Cys)
c.4652T>G (p.Phe1551Cys)
c.4247T>G (p.Phe1416Cys)
c.3605T>G (p.Phe1202Cys)
c.1115T>G (p.Phe372Cys)
n.5030T>G
10g.71740926T>ACA377160730CDH23c.4593T>A (p.Phe1531Leu)
c.4608T>A (p.Phe1536Leu)
n.1282T>A
c.4788T>A (p.Phe1596Leu)
c.4722T>A (p.Phe1574Leu)
c.4785T>A (p.Phe1595Leu)
c.4782T>A (p.Phe1594Leu)
c.4728T>A (p.Phe1576Leu)
c.4653T>A (p.Phe1551Leu)
c.4248T>A (p.Phe1416Leu)
c.3606T>A (p.Phe1202Leu)
c.1116T>A (p.Phe372Leu)
n.5031T>A
10g.71740926T>CCA470069252CDH23c.4593T>C (p.Phe1531=)
c.4608T>C (p.Phe1536=)
n.1282T>C
c.4788T>C (p.Phe1596=)
c.4722T>C (p.Phe1574=)
c.4785T>C (p.Phe1595=)
c.4782T>C (p.Phe1594=)
c.4728T>C (p.Phe1576=)
c.4653T>C (p.Phe1551=)
c.4248T>C (p.Phe1416=)
c.3606T>C (p.Phe1202=)
c.1116T>C (p.Phe372=)
n.5031T>C
 gnomAD v4
10g.71740926T>GCA377160732CDH23c.4593T>G (p.Phe1531Leu)
c.4608T>G (p.Phe1536Leu)
n.1282T>G
c.4788T>G (p.Phe1596Leu)
c.4722T>G (p.Phe1574Leu)
c.4785T>G (p.Phe1595Leu)
c.4782T>G (p.Phe1594Leu)
c.4728T>G (p.Phe1576Leu)
c.4653T>G (p.Phe1551Leu)
c.4248T>G (p.Phe1416Leu)
c.3606T>G (p.Phe1202Leu)
c.1116T>G (p.Phe372Leu)
n.5031T>G
10g.71740927G>ACA377160734CDH23c.4594G>A (p.Gly1532Arg)
c.4609G>A (p.Gly1537Arg)
n.1283G>A
c.4789G>A (p.Gly1597Arg)
c.4723G>A (p.Gly1575Arg)
c.4786G>A (p.Gly1596Arg)
c.4783G>A (p.Gly1595Arg)
c.4729G>A (p.Gly1577Arg)
c.4654G>A (p.Gly1552Arg)
c.4249G>A (p.Gly1417Arg)
c.3607G>A (p.Gly1203Arg)
c.1117G>A (p.Gly373Arg)
n.5032G>A
10g.71740927G>CCA377160735CDH23c.4594G>C (p.Gly1532Arg)
c.4609G>C (p.Gly1537Arg)
n.1283G>C
c.4789G>C (p.Gly1597Arg)
c.4723G>C (p.Gly1575Arg)
c.4786G>C (p.Gly1596Arg)
c.4783G>C (p.Gly1595Arg)
c.4729G>C (p.Gly1577Arg)
c.4654G>C (p.Gly1552Arg)
c.4249G>C (p.Gly1417Arg)
c.3607G>C (p.Gly1203Arg)
c.1117G>C (p.Gly373Arg)
n.5032G>C
10g.71740927G>TCA377160736CDH23c.4594G>T (p.Gly1532Ter)
c.4609G>T (p.Gly1537Ter)
n.1283G>T
c.4789G>T (p.Gly1597Ter)
c.4723G>T (p.Gly1575Ter)
c.4786G>T (p.Gly1596Ter)
c.4783G>T (p.Gly1595Ter)
c.4729G>T (p.Gly1577Ter)
c.4654G>T (p.Gly1552Ter)
c.4249G>T (p.Gly1417Ter)
c.3607G>T (p.Gly1203Ter)
c.1117G>T (p.Gly373Ter)
n.5032G>T
10g.71740928G>ACA377160737CDH23c.4595G>A (p.Gly1532Glu)
c.4610G>A (p.Gly1537Glu)
n.1284G>A
c.4790G>A (p.Gly1597Glu)
c.4724G>A (p.Gly1575Glu)
c.4787G>A (p.Gly1596Glu)
c.4784G>A (p.Gly1595Glu)
c.4730G>A (p.Gly1577Glu)
c.4655G>A (p.Gly1552Glu)
c.4250G>A (p.Gly1417Glu)
c.3608G>A (p.Gly1203Glu)
c.1118G>A (p.Gly373Glu)
n.5033G>A
10g.71740928G>CCA377160739CDH23c.4595G>C (p.Gly1532Ala)
c.4610G>C (p.Gly1537Ala)
n.1284G>C
c.4790G>C (p.Gly1597Ala)
c.4724G>C (p.Gly1575Ala)
c.4787G>C (p.Gly1596Ala)
c.4784G>C (p.Gly1595Ala)
c.4730G>C (p.Gly1577Ala)
c.4655G>C (p.Gly1552Ala)
c.4250G>C (p.Gly1417Ala)
c.3608G>C (p.Gly1203Ala)
c.1118G>C (p.Gly373Ala)
n.5033G>C
10g.71740928G>TCA377160740CDH23c.4595G>T (p.Gly1532Val)
c.4610G>T (p.Gly1537Val)
n.1284G>T
c.4790G>T (p.Gly1597Val)
c.4724G>T (p.Gly1575Val)
c.4787G>T (p.Gly1596Val)
c.4784G>T (p.Gly1595Val)
c.4730G>T (p.Gly1577Val)
c.4655G>T (p.Gly1552Val)
c.4250G>T (p.Gly1417Val)
c.3608G>T (p.Gly1203Val)
c.1118G>T (p.Gly373Val)
n.5033G>T
10g.71740929A>CCA470069253CDH23c.4596A>C (p.Gly1532=)
c.4611A>C (p.Gly1537=)
n.1285A>C
c.4791A>C (p.Gly1597=)
c.4725A>C (p.Gly1575=)
c.4788A>C (p.Gly1596=)
c.4785A>C (p.Gly1595=)
c.4731A>C (p.Gly1577=)
c.4656A>C (p.Gly1552=)
c.4251A>C (p.Gly1417=)
c.3609A>C (p.Gly1203=)
c.1119A>C (p.Gly373=)
n.5034A>C
10g.71740929A>GCA470069254CDH23c.4596A>G (p.Gly1532=)
c.4611A>G (p.Gly1537=)
n.1285A>G
c.4791A>G (p.Gly1597=)
c.4725A>G (p.Gly1575=)
c.4788A>G (p.Gly1596=)
c.4785A>G (p.Gly1595=)
c.4731A>G (p.Gly1577=)
c.4656A>G (p.Gly1552=)
c.4251A>G (p.Gly1417=)
c.3609A>G (p.Gly1203=)
c.1119A>G (p.Gly373=)
n.5034A>G
10g.71740929A>TCA470069255CDH23c.4596A>T (p.Gly1532=)
c.4611A>T (p.Gly1537=)
n.1285A>T
c.4791A>T (p.Gly1597=)
c.4725A>T (p.Gly1575=)
c.4788A>T (p.Gly1596=)
c.4785A>T (p.Gly1595=)
c.4731A>T (p.Gly1577=)
c.4656A>T (p.Gly1552=)
c.4251A>T (p.Gly1417=)
c.3609A>T (p.Gly1203=)
c.1119A>T (p.Gly373=)
n.5034A>T
10g.71740930T>ACA377160742CDH23c.4597T>A (p.Tyr1533Asn)
c.4612T>A (p.Tyr1538Asn)
n.1286T>A
c.4792T>A (p.Tyr1598Asn)
c.4726T>A (p.Tyr1576Asn)
c.4789T>A (p.Tyr1597Asn)
c.4786T>A (p.Tyr1596Asn)
c.4732T>A (p.Tyr1578Asn)
c.4657T>A (p.Tyr1553Asn)
c.4252T>A (p.Tyr1418Asn)
c.3610T>A (p.Tyr1204Asn)
c.1120T>A (p.Tyr374Asn)
n.5035T>A
10g.71740930T>CCA377160744CDH23c.4597T>C (p.Tyr1533His)
c.4612T>C (p.Tyr1538His)
n.1286T>C
c.4792T>C (p.Tyr1598His)
c.4726T>C (p.Tyr1576His)
c.4789T>C (p.Tyr1597His)
c.4786T>C (p.Tyr1596His)
c.4732T>C (p.Tyr1578His)
c.4657T>C (p.Tyr1553His)
c.4252T>C (p.Tyr1418His)
c.3610T>C (p.Tyr1204His)
c.1120T>C (p.Tyr374His)
n.5035T>C
10g.71740930T>GCA377160746CDH23c.4597T>G (p.Tyr1533Asp)
c.4612T>G (p.Tyr1538Asp)
n.1286T>G
c.4792T>G (p.Tyr1598Asp)
c.4726T>G (p.Tyr1576Asp)
c.4789T>G (p.Tyr1597Asp)
c.4786T>G (p.Tyr1596Asp)
c.4732T>G (p.Tyr1578Asp)
c.4657T>G (p.Tyr1553Asp)
c.4252T>G (p.Tyr1418Asp)
c.3610T>G (p.Tyr1204Asp)
c.1120T>G (p.Tyr374Asp)
n.5035T>G
10g.71740931A>CCA377160752CDH23c.4598A>C (p.Tyr1533Ser)
c.4613A>C (p.Tyr1538Ser)
n.1287A>C
c.4793A>C (p.Tyr1598Ser)
c.4727A>C (p.Tyr1576Ser)
c.4790A>C (p.Tyr1597Ser)
c.4787A>C (p.Tyr1596Ser)
c.4733A>C (p.Tyr1578Ser)
c.4658A>C (p.Tyr1553Ser)
c.4253A>C (p.Tyr1418Ser)
c.3611A>C (p.Tyr1204Ser)
c.1121A>C (p.Tyr374Ser)
n.5036A>C
10g.71740931A>GCA377160750CDH23c.4598A>G (p.Tyr1533Cys)
c.4613A>G (p.Tyr1538Cys)
n.1287A>G
c.4793A>G (p.Tyr1598Cys)
c.4727A>G (p.Tyr1576Cys)
c.4790A>G (p.Tyr1597Cys)
c.4787A>G (p.Tyr1596Cys)
c.4733A>G (p.Tyr1578Cys)
c.4658A>G (p.Tyr1553Cys)
c.4253A>G (p.Tyr1418Cys)
c.3611A>G (p.Tyr1204Cys)
c.1121A>G (p.Tyr374Cys)
n.5036A>G
10g.71740931A>TCA377160748CDH23c.4598A>T (p.Tyr1533Phe)
c.4613A>T (p.Tyr1538Phe)
n.1287A>T
c.4793A>T (p.Tyr1598Phe)
c.4727A>T (p.Tyr1576Phe)
c.4790A>T (p.Tyr1597Phe)
c.4787A>T (p.Tyr1596Phe)
c.4733A>T (p.Tyr1578Phe)
c.4658A>T (p.Tyr1553Phe)
c.4253A>T (p.Tyr1418Phe)
c.3611A>T (p.Tyr1204Phe)
c.1121A>T (p.Tyr374Phe)
n.5036A>T
10g.71740932C>ACA377160754CDH23c.4599C>A (p.Tyr1533Ter)
c.4614C>A (p.Tyr1538Ter)
n.1288C>A
c.4794C>A (p.Tyr1598Ter)
c.4728C>A (p.Tyr1576Ter)
c.4791C>A (p.Tyr1597Ter)
c.4788C>A (p.Tyr1596Ter)
c.4734C>A (p.Tyr1578Ter)
c.4659C>A (p.Tyr1553Ter)
c.4254C>A (p.Tyr1418Ter)
c.3612C>A (p.Tyr1204Ter)
c.1122C>A (p.Tyr374Ter)
n.5037C>A
10g.71740932C>GCA377160756CDH23c.4599C>G (p.Tyr1533Ter)
c.4614C>G (p.Tyr1538Ter)
n.1288C>G
c.4794C>G (p.Tyr1598Ter)
c.4728C>G (p.Tyr1576Ter)
c.4791C>G (p.Tyr1597Ter)
c.4788C>G (p.Tyr1596Ter)
c.4734C>G (p.Tyr1578Ter)
c.4659C>G (p.Tyr1553Ter)
c.4254C>G (p.Tyr1418Ter)
c.3612C>G (p.Tyr1204Ter)
c.1122C>G (p.Tyr374Ter)
n.5037C>G
10g.71740932C>TCA470069256CDH23c.4599C>T (p.Tyr1533=)
c.4614C>T (p.Tyr1538=)
n.1288C>T
c.4794C>T (p.Tyr1598=)
c.4728C>T (p.Tyr1576=)
c.4791C>T (p.Tyr1597=)
c.4788C>T (p.Tyr1596=)
c.4734C>T (p.Tyr1578=)
c.4659C>T (p.Tyr1553=)
c.4254C>T (p.Tyr1418=)
c.3612C>T (p.Tyr1204=)
c.1122C>T (p.Tyr374=)
n.5037C>T
10g.71740933A>CCA377160758CDH23c.4600A>C (p.Asn1534His)
c.4615A>C (p.Asn1539His)
n.1289A>C
c.4795A>C (p.Asn1599His)
c.4729A>C (p.Asn1577His)
c.4792A>C (p.Asn1598His)
c.4789A>C (p.Asn1597His)
c.4735A>C (p.Asn1579His)
c.4660A>C (p.Asn1554His)
c.4255A>C (p.Asn1419His)
c.3613A>C (p.Asn1205His)
c.1123A>C (p.Asn375His)
n.5038A>C
10g.71740933A>GCA377160760CDH23c.4600A>G (p.Asn1534Asp)
c.4615A>G (p.Asn1539Asp)
n.1289A>G
c.4795A>G (p.Asn1599Asp)
c.4729A>G (p.Asn1577Asp)
c.4792A>G (p.Asn1598Asp)
c.4789A>G (p.Asn1597Asp)
c.4735A>G (p.Asn1579Asp)
c.4660A>G (p.Asn1554Asp)
c.4255A>G (p.Asn1419Asp)
c.3613A>G (p.Asn1205Asp)
c.1123A>G (p.Asn375Asp)
n.5038A>G
 gnomAD v4
10g.71740933A>TCA377160762CDH23c.4600A>T (p.Asn1534Tyr)
c.4615A>T (p.Asn1539Tyr)
n.1289A>T
c.4795A>T (p.Asn1599Tyr)
c.4729A>T (p.Asn1577Tyr)
c.4792A>T (p.Asn1598Tyr)
c.4789A>T (p.Asn1597Tyr)
c.4735A>T (p.Asn1579Tyr)
c.4660A>T (p.Asn1554Tyr)
c.4255A>T (p.Asn1419Tyr)
c.3613A>T (p.Asn1205Tyr)
c.1123A>T (p.Asn375Tyr)
n.5038A>T
10g.71740934A=CA1918853868CDH23c.4601A= (p.Asn1534=)
c.4616A= (p.Asn1539=)
n.1290A=
c.4796A= (p.Asn1599=)
c.4730A= (p.Asn1577=)
c.4793A= (p.Asn1598=)
c.4790A= (p.Asn1597=)
c.4736A= (p.Asn1579=)
c.4661A= (p.Asn1554=)
c.4256A= (p.Asn1419=)
c.3614A= (p.Asn1205=)
c.1124A= (p.Asn375=)
n.5039A=
10g.71740934A>CCA377160763CDH23c.4601A>C (p.Asn1534Thr)
c.4616A>C (p.Asn1539Thr)
n.1290A>C
c.4796A>C (p.Asn1599Thr)
c.4730A>C (p.Asn1577Thr)
c.4793A>C (p.Asn1598Thr)
c.4790A>C (p.Asn1597Thr)
c.4736A>C (p.Asn1579Thr)
c.4661A>C (p.Asn1554Thr)
c.4256A>C (p.Asn1419Thr)
c.3614A>C (p.Asn1205Thr)
c.1124A>C (p.Asn375Thr)
n.5039A>C
10g.71740934A>GCA377160764CDH23c.4601A>G (p.Asn1534Ser)
c.4616A>G (p.Asn1539Ser)
n.1290A>G
c.4796A>G (p.Asn1599Ser)
c.4730A>G (p.Asn1577Ser)
c.4793A>G (p.Asn1598Ser)
c.4790A>G (p.Asn1597Ser)
c.4736A>G (p.Asn1579Ser)
c.4661A>G (p.Asn1554Ser)
c.4256A>G (p.Asn1419Ser)
c.3614A>G (p.Asn1205Ser)
c.1124A>G (p.Asn375Ser)
n.5039A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71740934A>TCA377160765CDH23c.4601A>T (p.Asn1534Ile)
c.4616A>T (p.Asn1539Ile)
n.1290A>T
c.4796A>T (p.Asn1599Ile)
c.4730A>T (p.Asn1577Ile)
c.4793A>T (p.Asn1598Ile)
c.4790A>T (p.Asn1597Ile)
c.4736A>T (p.Asn1579Ile)
c.4661A>T (p.Asn1554Ile)
c.4256A>T (p.Asn1419Ile)
c.3614A>T (p.Asn1205Ile)
c.1124A>T (p.Asn375Ile)
n.5039A>T
10g.71740935T>ACA377160766CDH23c.4602T>A (p.Asn1534Lys)
c.4617T>A (p.Asn1539Lys)
n.1291T>A
c.4797T>A (p.Asn1599Lys)
c.4731T>A (p.Asn1577Lys)
c.4794T>A (p.Asn1598Lys)
c.4791T>A (p.Asn1597Lys)
c.4737T>A (p.Asn1579Lys)
c.4662T>A (p.Asn1554Lys)
c.4257T>A (p.Asn1419Lys)
c.3615T>A (p.Asn1205Lys)
c.1125T>A (p.Asn375Lys)
n.5040T>A
 gnomAD v4
10g.71740935T>CCA470069257CDH23c.4602T>C (p.Asn1534=)
c.4617T>C (p.Asn1539=)
n.1291T>C
c.4797T>C (p.Asn1599=)
c.4731T>C (p.Asn1577=)
c.4794T>C (p.Asn1598=)
c.4791T>C (p.Asn1597=)
c.4737T>C (p.Asn1579=)
c.4662T>C (p.Asn1554=)
c.4257T>C (p.Asn1419=)
c.3615T>C (p.Asn1205=)
c.1125T>C (p.Asn375=)
n.5040T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71740935T>GCA377160767CDH23c.4602T>G (p.Asn1534Lys)
c.4617T>G (p.Asn1539Lys)
n.1291T>G
c.4797T>G (p.Asn1599Lys)
c.4731T>G (p.Asn1577Lys)
c.4794T>G (p.Asn1598Lys)
c.4791T>G (p.Asn1597Lys)
c.4737T>G (p.Asn1579Lys)
c.4662T>G (p.Asn1554Lys)
c.4257T>G (p.Asn1419Lys)
c.3615T>G (p.Asn1205Lys)
c.1125T>G (p.Asn375Lys)
n.5040T>G
10g.71740935T=CA1918853869CDH23c.4602T= (p.Asn1534=)
c.4617T= (p.Asn1539=)
n.1291T=
c.4797T= (p.Asn1599=)
c.4731T= (p.Asn1577=)
c.4794T= (p.Asn1598=)
c.4791T= (p.Asn1597=)
c.4737T= (p.Asn1579=)
c.4662T= (p.Asn1554=)
c.4257T= (p.Asn1419=)
c.3615T= (p.Asn1205=)
c.1125T= (p.Asn375=)
n.5040T=
10g.71740936G>ACA377160768CDH23c.4603G>A (p.Val1535Ile)
c.4618G>A (p.Val1540Ile)
n.1292G>A
c.4798G>A (p.Val1600Ile)
c.4732G>A (p.Val1578Ile)
c.4795G>A (p.Val1599Ile)
c.4792G>A (p.Val1598Ile)
c.4738G>A (p.Val1580Ile)
c.4663G>A (p.Val1555Ile)
c.4258G>A (p.Val1420Ile)
c.3616G>A (p.Val1206Ile)
c.1126G>A (p.Val376Ile)
n.5041G>A
 gnomAD v4
10g.71740936G>CCA377160769CDH23c.4603G>C (p.Val1535Leu)
c.4618G>C (p.Val1540Leu)
n.1292G>C
c.4798G>C (p.Val1600Leu)
c.4732G>C (p.Val1578Leu)
c.4795G>C (p.Val1599Leu)
c.4792G>C (p.Val1598Leu)
c.4738G>C (p.Val1580Leu)
c.4663G>C (p.Val1555Leu)
c.4258G>C (p.Val1420Leu)
c.3616G>C (p.Val1206Leu)
c.1126G>C (p.Val376Leu)
n.5041G>C
10g.71740936G>TCA377160770CDH23c.4603G>T (p.Val1535Phe)
c.4618G>T (p.Val1540Phe)
n.1292G>T
c.4798G>T (p.Val1600Phe)
c.4732G>T (p.Val1578Phe)
c.4795G>T (p.Val1599Phe)
c.4792G>T (p.Val1598Phe)
c.4738G>T (p.Val1580Phe)
c.4663G>T (p.Val1555Phe)
c.4258G>T (p.Val1420Phe)
c.3616G>T (p.Val1206Phe)
c.1126G>T (p.Val376Phe)
n.5041G>T
10g.71740937T>ACA377160772CDH23c.4604T>A (p.Val1535Asp)
c.4619T>A (p.Val1540Asp)
n.1293T>A
c.4799T>A (p.Val1600Asp)
c.4733T>A (p.Val1578Asp)
c.4796T>A (p.Val1599Asp)
c.4793T>A (p.Val1598Asp)
c.4739T>A (p.Val1580Asp)
c.4664T>A (p.Val1555Asp)
c.4259T>A (p.Val1420Asp)
c.3617T>A (p.Val1206Asp)
c.1127T>A (p.Val376Asp)
n.5042T>A
 ClinVar dbSNP
10g.71740937T>CCA377160776CDH23c.4604T>C (p.Val1535Ala)
c.4619T>C (p.Val1540Ala)
n.1293T>C
c.4799T>C (p.Val1600Ala)
c.4733T>C (p.Val1578Ala)
c.4796T>C (p.Val1599Ala)
c.4793T>C (p.Val1598Ala)
c.4739T>C (p.Val1580Ala)
c.4664T>C (p.Val1555Ala)
c.4259T>C (p.Val1420Ala)
c.3617T>C (p.Val1206Ala)
c.1127T>C (p.Val376Ala)
n.5042T>C
10g.71740937T>GCA377160774CDH23c.4604T>G (p.Val1535Gly)
c.4619T>G (p.Val1540Gly)
n.1293T>G
c.4799T>G (p.Val1600Gly)
c.4733T>G (p.Val1578Gly)
c.4796T>G (p.Val1599Gly)
c.4793T>G (p.Val1598Gly)
c.4739T>G (p.Val1580Gly)
c.4664T>G (p.Val1555Gly)
c.4259T>G (p.Val1420Gly)
c.3617T>G (p.Val1206Gly)
c.1127T>G (p.Val376Gly)
n.5042T>G
10g.71740938C>ACA470069258CDH23c.4605C>A (p.Val1535=)
c.4620C>A (p.Val1540=)
n.1294C>A
c.4800C>A (p.Val1600=)
c.4734C>A (p.Val1578=)
c.4797C>A (p.Val1599=)
c.4794C>A (p.Val1598=)
c.4740C>A (p.Val1580=)
c.4665C>A (p.Val1555=)
c.4260C>A (p.Val1420=)
c.3618C>A (p.Val1206=)
c.1128C>A (p.Val376=)
n.5043C>A
 gnomAD v4
10g.71740938C=CA1918853870CDH23c.4605C= (p.Val1535=)
c.4620C= (p.Val1540=)
n.1294C=
c.4800C= (p.Val1600=)
c.4734C= (p.Val1578=)
c.4797C= (p.Val1599=)
c.4794C= (p.Val1598=)
c.4740C= (p.Val1580=)
c.4665C= (p.Val1555=)
c.4260C= (p.Val1420=)
c.3618C= (p.Val1206=)
c.1128C= (p.Val376=)
n.5043C=
10g.71740938C>GCA470069260CDH23c.4605C>G (p.Val1535=)
c.4620C>G (p.Val1540=)
n.1294C>G
c.4800C>G (p.Val1600=)
c.4734C>G (p.Val1578=)
c.4797C>G (p.Val1599=)
c.4794C>G (p.Val1598=)
c.4740C>G (p.Val1580=)
c.4665C>G (p.Val1555=)
c.4260C>G (p.Val1420=)
c.3618C>G (p.Val1206=)
c.1128C>G (p.Val376=)
n.5043C>G
10g.71740938C>TCA470069261CDH23c.4605C>T (p.Val1535=)
c.4620C>T (p.Val1540=)
n.1294C>T
c.4800C>T (p.Val1600=)
c.4734C>T (p.Val1578=)
c.4797C>T (p.Val1599=)
c.4794C>T (p.Val1598=)
c.4740C>T (p.Val1580=)
c.4665C>T (p.Val1555=)
c.4260C>T (p.Val1420=)
c.3618C>T (p.Val1206=)
c.1128C>T (p.Val376=)
n.5043C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71740939A>CCA377160778CDH23c.4606A>C (p.Ser1536Arg)
c.4621A>C (p.Ser1541Arg)
n.1295A>C
c.4801A>C (p.Ser1601Arg)
c.4735A>C (p.Ser1579Arg)
c.4798A>C (p.Ser1600Arg)
c.4795A>C (p.Ser1599Arg)
c.4741A>C (p.Ser1581Arg)
c.4666A>C (p.Ser1556Arg)
c.4261A>C (p.Ser1421Arg)
c.3619A>C (p.Ser1207Arg)
c.1129A>C (p.Ser377Arg)
n.5044A>C
10g.71740939A>GCA377160779CDH23c.4606A>G (p.Ser1536Gly)
c.4621A>G (p.Ser1541Gly)
n.1295A>G
c.4801A>G (p.Ser1601Gly)
c.4735A>G (p.Ser1579Gly)
c.4798A>G (p.Ser1600Gly)
c.4795A>G (p.Ser1599Gly)
c.4741A>G (p.Ser1581Gly)
c.4666A>G (p.Ser1556Gly)
c.4261A>G (p.Ser1421Gly)
c.3619A>G (p.Ser1207Gly)
c.1129A>G (p.Ser377Gly)
n.5044A>G
10g.71740939A>TCA377160780CDH23c.4606A>T (p.Ser1536Cys)
c.4621A>T (p.Ser1541Cys)
n.1295A>T
c.4801A>T (p.Ser1601Cys)
c.4735A>T (p.Ser1579Cys)
c.4798A>T (p.Ser1600Cys)
c.4795A>T (p.Ser1599Cys)
c.4741A>T (p.Ser1581Cys)
c.4666A>T (p.Ser1556Cys)
c.4261A>T (p.Ser1421Cys)
c.3619A>T (p.Ser1207Cys)
c.1129A>T (p.Ser377Cys)
n.5044A>T
10g.71740940G>ACA377160781CDH23c.4607G>A (p.Ser1536Asn)
c.4622G>A (p.Ser1541Asn)
n.1296G>A
c.4802G>A (p.Ser1601Asn)
c.4736G>A (p.Ser1579Asn)
c.4799G>A (p.Ser1600Asn)
c.4796G>A (p.Ser1599Asn)
c.4742G>A (p.Ser1581Asn)
c.4667G>A (p.Ser1556Asn)
c.4262G>A (p.Ser1421Asn)
c.3620G>A (p.Ser1207Asn)
c.1130G>A (p.Ser377Asn)
n.5045G>A
 gnomAD v4
10g.71740940G>CCA377160783CDH23c.4607G>C (p.Ser1536Thr)
c.4622G>C (p.Ser1541Thr)
n.1296G>C
c.4802G>C (p.Ser1601Thr)
c.4736G>C (p.Ser1579Thr)
c.4799G>C (p.Ser1600Thr)
c.4796G>C (p.Ser1599Thr)
c.4742G>C (p.Ser1581Thr)
c.4667G>C (p.Ser1556Thr)
c.4262G>C (p.Ser1421Thr)
c.3620G>C (p.Ser1207Thr)
c.1130G>C (p.Ser377Thr)
n.5045G>C
10g.71740940G=CA1918853871CDH23c.4607G= (p.Ser1536=)
c.4622G= (p.Ser1541=)
n.1296G=
c.4802G= (p.Ser1601=)
c.4736G= (p.Ser1579=)
c.4799G= (p.Ser1600=)
c.4796G= (p.Ser1599=)
c.4742G= (p.Ser1581=)
c.4667G= (p.Ser1556=)
c.4262G= (p.Ser1421=)
c.3620G= (p.Ser1207=)
c.1130G= (p.Ser377=)
n.5045G=
10g.71740940G>TCA377160785CDH23c.4607G>T (p.Ser1536Ile)
c.4622G>T (p.Ser1541Ile)
n.1296G>T
c.4802G>T (p.Ser1601Ile)
c.4736G>T (p.Ser1579Ile)
c.4799G>T (p.Ser1600Ile)
c.4796G>T (p.Ser1599Ile)
c.4742G>T (p.Ser1581Ile)
c.4667G>T (p.Ser1556Ile)
c.4262G>T (p.Ser1421Ile)
c.3620G>T (p.Ser1207Ile)
c.1130G>T (p.Ser377Ile)
n.5045G>T
 gnomAD v4
10g.71740943_71740944delCA2788484258CDH23c.4610_4611del (p.Val1537GlufsTer2)
c.4625_4626del (p.Val1542GlufsTer2)
n.1299_1300del
c.4805_4806del (p.Val1602GlufsTer2)
c.4739_4740del (p.Val1580GlufsTer2)
c.4802_4803del (p.Val1601GlufsTer2)
c.4799_4800del (p.Val1600GlufsTer2)
c.4745_4746del (p.Val1582GlufsTer2)
c.4670_4671del (p.Val1557GlufsTer2)
c.4265_4266del (p.Val1422GlufsTer2)
c.3623_3624del (p.Val1208GlufsTer2)
c.1133_1134del (p.Val378GlufsTer2)
n.5048_5049del
10g.71740941T>ACA377160787CDH23c.4608T>A (p.Ser1536Arg)
c.4623T>A (p.Ser1541Arg)
n.1297T>A
c.4803T>A (p.Ser1601Arg)
c.4737T>A (p.Ser1579Arg)
c.4800T>A (p.Ser1600Arg)
c.4797T>A (p.Ser1599Arg)
c.4743T>A (p.Ser1581Arg)
c.4668T>A (p.Ser1556Arg)
c.4263T>A (p.Ser1421Arg)
c.3621T>A (p.Ser1207Arg)
c.1131T>A (p.Ser377Arg)
n.5046T>A
10g.71740941T>CCA209486355CDH23c.4608T>C (p.Ser1536=)
c.4623T>C (p.Ser1541=)
n.1297T>C
c.4803T>C (p.Ser1601=)
c.4737T>C (p.Ser1579=)
c.4800T>C (p.Ser1600=)
c.4797T>C (p.Ser1599=)
c.4743T>C (p.Ser1581=)
c.4668T>C (p.Ser1556=)
c.4263T>C (p.Ser1421=)
c.3621T>C (p.Ser1207=)
c.1131T>C (p.Ser377=)
n.5046T>C
 ClinVar dbSNP gnomAD v4
10g.71740941T>GCA377160788CDH23c.4608T>G (p.Ser1536Arg)
c.4623T>G (p.Ser1541Arg)
n.1297T>G
c.4803T>G (p.Ser1601Arg)
c.4737T>G (p.Ser1579Arg)
c.4800T>G (p.Ser1600Arg)
c.4797T>G (p.Ser1599Arg)
c.4743T>G (p.Ser1581Arg)
c.4668T>G (p.Ser1556Arg)
c.4263T>G (p.Ser1421Arg)
c.3621T>G (p.Ser1207Arg)
c.1131T>G (p.Ser377Arg)
n.5046T>G
10g.71740941T=CA1918853873CDH23c.4608T= (p.Ser1536=)
c.4623T= (p.Ser1541=)
n.1297T=
c.4803T= (p.Ser1601=)
c.4737T= (p.Ser1579=)
c.4800T= (p.Ser1600=)
c.4797T= (p.Ser1599=)
c.4743T= (p.Ser1581=)
c.4668T= (p.Ser1556=)
c.4263T= (p.Ser1421=)
c.3621T= (p.Ser1207=)
c.1131T= (p.Ser377=)
n.5046T=
10g.71740941dupCA1918853872CDH23c.4608dup (p.Val1537CysfsTer3)
c.4623dup (p.Val1542CysfsTer3)
n.1297dup
c.4803dup (p.Val1602CysfsTer3)
c.4737dup (p.Val1580CysfsTer3)
c.4800dup (p.Val1601CysfsTer3)
c.4797dup (p.Val1600CysfsTer3)
c.4743dup (p.Val1582CysfsTer3)
c.4668dup (p.Val1557CysfsTer3)
c.4263dup (p.Val1422CysfsTer3)
c.3621dup (p.Val1208CysfsTer3)
c.1131dup (p.Val378CysfsTer3)
n.5046dup
 dbSNP
10g.71740941_71740942insACACA2788484259CDH23c.4608_4609insACA (p.Ser1536_Val1537insThr)
c.4623_4624insACA (p.Ser1541_Val1542insThr)
n.1297_1298insACA
c.4803_4804insACA (p.Ser1601_Val1602insThr)
c.4737_4738insACA (p.Ser1579_Val1580insThr)
c.4800_4801insACA (p.Ser1600_Val1601insThr)
c.4797_4798insACA (p.Ser1599_Val1600insThr)
c.4743_4744insACA (p.Ser1581_Val1582insThr)
c.4668_4669insACA (p.Ser1556_Val1557insThr)
c.4263_4264insACA (p.Ser1421_Val1422insThr)
c.3621_3622insACA (p.Ser1207_Val1208insThr)
c.1131_1132insACA (p.Ser377_Val378insThr)
n.5046_5047insACA
10g.71740942G>ACA377160789CDH23c.4609G>A (p.Val1537Met)
c.4624G>A (p.Val1542Met)
n.1298G>A
c.4804G>A (p.Val1602Met)
c.4738G>A (p.Val1580Met)
c.4801G>A (p.Val1601Met)
c.4798G>A (p.Val1600Met)
c.4744G>A (p.Val1582Met)
c.4669G>A (p.Val1557Met)
c.4264G>A (p.Val1422Met)
c.3622G>A (p.Val1208Met)
c.1132G>A (p.Val378Met)
n.5047G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71740942G>CCA377160790CDH23c.4609G>C (p.Val1537Leu)
c.4624G>C (p.Val1542Leu)
n.1298G>C
c.4804G>C (p.Val1602Leu)
c.4738G>C (p.Val1580Leu)
c.4801G>C (p.Val1601Leu)
c.4798G>C (p.Val1600Leu)
c.4744G>C (p.Val1582Leu)
c.4669G>C (p.Val1557Leu)
c.4264G>C (p.Val1422Leu)
c.3622G>C (p.Val1208Leu)
c.1132G>C (p.Val378Leu)
n.5047G>C
10g.71740942G=CA1918853874CDH23c.4609G= (p.Val1537=)
c.4624G= (p.Val1542=)
n.1298G=
c.4804G= (p.Val1602=)
c.4738G= (p.Val1580=)
c.4801G= (p.Val1601=)
c.4798G= (p.Val1600=)
c.4744G= (p.Val1582=)
c.4669G= (p.Val1557=)
c.4264G= (p.Val1422=)
c.3622G= (p.Val1208=)
c.1132G= (p.Val378=)
n.5047G=
10g.71740942G>TCA377160791CDH23c.4609G>T (p.Val1537Leu)
c.4624G>T (p.Val1542Leu)
n.1298G>T
c.4804G>T (p.Val1602Leu)
c.4738G>T (p.Val1580Leu)
c.4801G>T (p.Val1601Leu)
c.4798G>T (p.Val1600Leu)
c.4744G>T (p.Val1582Leu)
c.4669G>T (p.Val1557Leu)
c.4264G>T (p.Val1422Leu)
c.3622G>T (p.Val1208Leu)
c.1132G>T (p.Val378Leu)
n.5047G>T
10g.71740943T>ACA377160794CDH23c.4610T>A (p.Val1537Glu)
c.4625T>A (p.Val1542Glu)
n.1299T>A
c.4805T>A (p.Val1602Glu)
c.4739T>A (p.Val1580Glu)
c.4802T>A (p.Val1601Glu)
c.4799T>A (p.Val1600Glu)
c.4745T>A (p.Val1582Glu)
c.4670T>A (p.Val1557Glu)
c.4265T>A (p.Val1422Glu)
c.3623T>A (p.Val1208Glu)
c.1133T>A (p.Val378Glu)
n.5048T>A
10g.71740943T>CCA377160796CDH23c.4610T>C (p.Val1537Ala)
c.4625T>C (p.Val1542Ala)
n.1299T>C
c.4805T>C (p.Val1602Ala)
c.4739T>C (p.Val1580Ala)
c.4802T>C (p.Val1601Ala)
c.4799T>C (p.Val1600Ala)
c.4745T>C (p.Val1582Ala)
c.4670T>C (p.Val1557Ala)
c.4265T>C (p.Val1422Ala)
c.3623T>C (p.Val1208Ala)
c.1133T>C (p.Val378Ala)
n.5048T>C
10g.71740943T>GCA377160793CDH23c.4610T>G (p.Val1537Gly)
c.4625T>G (p.Val1542Gly)
n.1299T>G
c.4805T>G (p.Val1602Gly)
c.4739T>G (p.Val1580Gly)
c.4802T>G (p.Val1601Gly)
c.4799T>G (p.Val1600Gly)
c.4745T>G (p.Val1582Gly)
c.4670T>G (p.Val1557Gly)
c.4265T>G (p.Val1422Gly)
c.3623T>G (p.Val1208Gly)
c.1133T>G (p.Val378Gly)
n.5048T>G
10g.71740944G>ACA470069262CDH23c.4611G>A (p.Val1537=)
c.4626G>A (p.Val1542=)
n.1300G>A
c.4806G>A (p.Val1602=)
c.4740G>A (p.Val1580=)
c.4803G>A (p.Val1601=)
c.4800G>A (p.Val1600=)
c.4746G>A (p.Val1582=)
c.4671G>A (p.Val1557=)
c.4266G>A (p.Val1422=)
c.3624G>A (p.Val1208=)
c.1134G>A (p.Val378=)
n.5049G>A
10g.71740944G>CCA470069264CDH23c.4611G>C (p.Val1537=)
c.4626G>C (p.Val1542=)
n.1300G>C
c.4806G>C (p.Val1602=)
c.4740G>C (p.Val1580=)
c.4803G>C (p.Val1601=)
c.4800G>C (p.Val1600=)
c.4746G>C (p.Val1582=)
c.4671G>C (p.Val1557=)
c.4266G>C (p.Val1422=)
c.3624G>C (p.Val1208=)
c.1134G>C (p.Val378=)
n.5049G>C
10g.71740944G>TCA470069263CDH23c.4611G>T (p.Val1537=)
c.4626G>T (p.Val1542=)
n.1300G>T
c.4806G>T (p.Val1602=)
c.4740G>T (p.Val1580=)
c.4803G>T (p.Val1601=)
c.4800G>T (p.Val1600=)
c.4746G>T (p.Val1582=)
c.4671G>T (p.Val1557=)
c.4266G>T (p.Val1422=)
c.3624G>T (p.Val1208=)
c.1134G>T (p.Val378=)
n.5049G>T
10g.71740945A>CCA377160802CDH23c.4612A>C (p.Asn1538His)
c.4627A>C (p.Asn1543His)
n.1301A>C
c.4807A>C (p.Asn1603His)
c.4741A>C (p.Asn1581His)
c.4804A>C (p.Asn1602His)
c.4801A>C (p.Asn1601His)
c.4747A>C (p.Asn1583His)
c.4672A>C (p.Asn1558His)
c.4267A>C (p.Asn1423His)
c.3625A>C (p.Asn1209His)
c.1135A>C (p.Asn379His)
n.5050A>C
10g.71740945A>GCA377160798CDH23c.4612A>G (p.Asn1538Asp)
c.4627A>G (p.Asn1543Asp)
n.1301A>G
c.4807A>G (p.Asn1603Asp)
c.4741A>G (p.Asn1581Asp)
c.4804A>G (p.Asn1602Asp)
c.4801A>G (p.Asn1601Asp)
c.4747A>G (p.Asn1583Asp)
c.4672A>G (p.Asn1558Asp)
c.4267A>G (p.Asn1423Asp)
c.3625A>G (p.Asn1209Asp)
c.1135A>G (p.Asn379Asp)
n.5050A>G
10g.71740945A>TCA377160800CDH23c.4612A>T (p.Asn1538Tyr)
c.4627A>T (p.Asn1543Tyr)
n.1301A>T
c.4807A>T (p.Asn1603Tyr)
c.4741A>T (p.Asn1581Tyr)
c.4804A>T (p.Asn1602Tyr)
c.4801A>T (p.Asn1601Tyr)
c.4747A>T (p.Asn1583Tyr)
c.4672A>T (p.Asn1558Tyr)
c.4267A>T (p.Asn1423Tyr)
c.3625A>T (p.Asn1209Tyr)
c.1135A>T (p.Asn379Tyr)
n.5050A>T
10g.71740946A>CCA377160804CDH23c.4613A>C (p.Asn1538Thr)
c.4628A>C (p.Asn1543Thr)
n.1302A>C
c.4808A>C (p.Asn1603Thr)
c.4742A>C (p.Asn1581Thr)
c.4805A>C (p.Asn1602Thr)
c.4802A>C (p.Asn1601Thr)
c.4748A>C (p.Asn1583Thr)
c.4673A>C (p.Asn1558Thr)
c.4268A>C (p.Asn1423Thr)
c.3626A>C (p.Asn1209Thr)
c.1136A>C (p.Asn379Thr)
n.5051A>C
10g.71740946A>GCA377160806CDH23c.4613A>G (p.Asn1538Ser)
c.4628A>G (p.Asn1543Ser)
n.1302A>G
c.4808A>G (p.Asn1603Ser)
c.4742A>G (p.Asn1581Ser)
c.4805A>G (p.Asn1602Ser)
c.4802A>G (p.Asn1601Ser)
c.4748A>G (p.Asn1583Ser)
c.4673A>G (p.Asn1558Ser)
c.4268A>G (p.Asn1423Ser)
c.3626A>G (p.Asn1209Ser)
c.1136A>G (p.Asn379Ser)
n.5051A>G
10g.71740946A>TCA377160808CDH23c.4613A>T (p.Asn1538Ile)
c.4628A>T (p.Asn1543Ile)
n.1302A>T
c.4808A>T (p.Asn1603Ile)
c.4742A>T (p.Asn1581Ile)
c.4805A>T (p.Asn1602Ile)
c.4802A>T (p.Asn1601Ile)
c.4748A>T (p.Asn1583Ile)
c.4673A>T (p.Asn1558Ile)
c.4268A>T (p.Asn1423Ile)
c.3626A>T (p.Asn1209Ile)
c.1136A>T (p.Asn379Ile)
n.5051A>T
10g.71740947T>ACA377160809CDH23c.4614T>A (p.Asn1538Lys)
c.4629T>A (p.Asn1543Lys)
n.1303T>A
c.4809T>A (p.Asn1603Lys)
c.4743T>A (p.Asn1581Lys)
c.4806T>A (p.Asn1602Lys)
c.4803T>A (p.Asn1601Lys)
c.4749T>A (p.Asn1583Lys)
c.4674T>A (p.Asn1558Lys)
c.4269T>A (p.Asn1423Lys)
c.3627T>A (p.Asn1209Lys)
c.1137T>A (p.Asn379Lys)
n.5052T>A
10g.71740947T>CCA470069266CDH23c.4614T>C (p.Asn1538=)
c.4629T>C (p.Asn1543=)
n.1303T>C
c.4809T>C (p.Asn1603=)
c.4743T>C (p.Asn1581=)
c.4806T>C (p.Asn1602=)
c.4803T>C (p.Asn1601=)
c.4749T>C (p.Asn1583=)
c.4674T>C (p.Asn1558=)
c.4269T>C (p.Asn1423=)
c.3627T>C (p.Asn1209=)
c.1137T>C (p.Asn379=)
n.5052T>C
10g.71740947T>GCA377160811CDH23c.4614T>G (p.Asn1538Lys)
c.4629T>G (p.Asn1543Lys)
n.1303T>G
c.4809T>G (p.Asn1603Lys)
c.4743T>G (p.Asn1581Lys)
c.4806T>G (p.Asn1602Lys)
c.4803T>G (p.Asn1601Lys)
c.4749T>G (p.Asn1583Lys)
c.4674T>G (p.Asn1558Lys)
c.4269T>G (p.Asn1423Lys)
c.3627T>G (p.Asn1209Lys)
c.1137T>G (p.Asn379Lys)
n.5052T>G
10g.71740948G>ACA377160813CDH23c.4615G>A (p.Glu1539Lys)
c.4630G>A (p.Glu1544Lys)
n.1304G>A
c.4810G>A (p.Glu1604Lys)
c.4744G>A (p.Glu1582Lys)
c.4807G>A (p.Glu1603Lys)
c.4804G>A (p.Glu1602Lys)
c.4750G>A (p.Glu1584Lys)
c.4675G>A (p.Glu1559Lys)
c.4270G>A (p.Glu1424Lys)
c.3628G>A (p.Glu1210Lys)
c.1138G>A (p.Glu380Lys)
n.5053G>A
 gnomAD v4
10g.71740948G>CCA377160815CDH23c.4615G>C (p.Glu1539Gln)
c.4630G>C (p.Glu1544Gln)
n.1304G>C
c.4810G>C (p.Glu1604Gln)
c.4744G>C (p.Glu1582Gln)
c.4807G>C (p.Glu1603Gln)
c.4804G>C (p.Glu1602Gln)
c.4750G>C (p.Glu1584Gln)
c.4675G>C (p.Glu1559Gln)
c.4270G>C (p.Glu1424Gln)
c.3628G>C (p.Glu1210Gln)
c.1138G>C (p.Glu380Gln)
n.5053G>C
10g.71740948G>TCA377160817CDH23c.4615G>T (p.Glu1539Ter)
c.4630G>T (p.Glu1544Ter)
n.1304G>T
c.4810G>T (p.Glu1604Ter)
c.4744G>T (p.Glu1582Ter)
c.4807G>T (p.Glu1603Ter)
c.4804G>T (p.Glu1602Ter)
c.4750G>T (p.Glu1584Ter)
c.4675G>T (p.Glu1559Ter)
c.4270G>T (p.Glu1424Ter)
c.3628G>T (p.Glu1210Ter)
c.1138G>T (p.Glu380Ter)
n.5053G>T
 ClinVar
10g.71740949A>CCA377160820CDH23c.4616A>C (p.Glu1539Ala)
c.4631A>C (p.Glu1544Ala)
n.1305A>C
c.4811A>C (p.Glu1604Ala)
c.4745A>C (p.Glu1582Ala)
c.4808A>C (p.Glu1603Ala)
c.4805A>C (p.Glu1602Ala)
c.4751A>C (p.Glu1584Ala)
c.4676A>C (p.Glu1559Ala)
c.4271A>C (p.Glu1424Ala)
c.3629A>C (p.Glu1210Ala)
c.1139A>C (p.Glu380Ala)
n.5054A>C
10g.71740949A>GCA377160822CDH23c.4616A>G (p.Glu1539Gly)
c.4631A>G (p.Glu1544Gly)
n.1305A>G
c.4811A>G (p.Glu1604Gly)
c.4745A>G (p.Glu1582Gly)
c.4808A>G (p.Glu1603Gly)
c.4805A>G (p.Glu1602Gly)
c.4751A>G (p.Glu1584Gly)
c.4676A>G (p.Glu1559Gly)
c.4271A>G (p.Glu1424Gly)
c.3629A>G (p.Glu1210Gly)
c.1139A>G (p.Glu380Gly)
n.5054A>G
 gnomAD v4
10g.71740949A>TCA377160824CDH23c.4616A>T (p.Glu1539Val)
c.4631A>T (p.Glu1544Val)
n.1305A>T
c.4811A>T (p.Glu1604Val)
c.4745A>T (p.Glu1582Val)
c.4808A>T (p.Glu1603Val)
c.4805A>T (p.Glu1602Val)
c.4751A>T (p.Glu1584Val)
c.4676A>T (p.Glu1559Val)
c.4271A>T (p.Glu1424Val)
c.3629A>T (p.Glu1210Val)
c.1139A>T (p.Glu380Val)
n.5054A>T
 COSMIC COSMIC
10g.71740950G>ACA470069267CDH23c.4617G>A (p.Glu1539=)
c.4632G>A (p.Glu1544=)
n.1306G>A
c.4812G>A (p.Glu1604=)
c.4746G>A (p.Glu1582=)
c.4809G>A (p.Glu1603=)
c.4806G>A (p.Glu1602=)
c.4752G>A (p.Glu1584=)
c.4677G>A (p.Glu1559=)
c.4272G>A (p.Glu1424=)
c.3630G>A (p.Glu1210=)
c.1140G>A (p.Glu380=)
n.5055G>A
 gnomAD v4
10g.71740950G>CCA377160827CDH23c.4617G>C (p.Glu1539Asp)
c.4632G>C (p.Glu1544Asp)
n.1306G>C
c.4812G>C (p.Glu1604Asp)
c.4746G>C (p.Glu1582Asp)
c.4809G>C (p.Glu1603Asp)
c.4806G>C (p.Glu1602Asp)
c.4752G>C (p.Glu1584Asp)
c.4677G>C (p.Glu1559Asp)
c.4272G>C (p.Glu1424Asp)
c.3630G>C (p.Glu1210Asp)
c.1140G>C (p.Glu380Asp)
n.5055G>C
10g.71740950G=CA1918853875CDH23c.4617G= (p.Glu1539=)
c.4632G= (p.Glu1544=)
n.1306G=
c.4812G= (p.Glu1604=)
c.4746G= (p.Glu1582=)
c.4809G= (p.Glu1603=)
c.4806G= (p.Glu1602=)
c.4752G= (p.Glu1584=)
c.4677G= (p.Glu1559=)
c.4272G= (p.Glu1424=)
c.3630G= (p.Glu1210=)
c.1140G= (p.Glu380=)
n.5055G=
10g.71740950G>TCA377160826CDH23c.4617G>T (p.Glu1539Asp)
c.4632G>T (p.Glu1544Asp)
n.1306G>T
c.4812G>T (p.Glu1604Asp)
c.4746G>T (p.Glu1582Asp)
c.4809G>T (p.Glu1603Asp)
c.4806G>T (p.Glu1602Asp)
c.4752G>T (p.Glu1584Asp)
c.4677G>T (p.Glu1559Asp)
c.4272G>T (p.Glu1424Asp)
c.3630G>T (p.Glu1210Asp)
c.1140G>T (p.Glu380Asp)
n.5055G>T
 dbSNP gnomAD v4
10g.71740951G>ACA377160830CDH23c.4617+1G>A (n.4617+1G>A)
c.4632+1G>A (n.4632+1G>A)
n.1306+1G>A
c.4812+1G>A (n.4812+1G>A)
c.4746+1G>A (n.4746+1G>A)
c.4809+1G>A (n.4809+1G>A)
c.4806+1G>A (n.4806+1G>A)
c.4752+1G>A (n.4752+1G>A)
c.4677+1G>A (n.4677+1G>A)
c.4272+1G>A (n.4272+1G>A)
c.3630+1G>A (n.3630+1G>A)
c.1140+1G>A (n.1140+1G>A)
n.5055+1G>A
 ClinVar dbSNP gnomAD v4
10g.71740951G>CCA377160831CDH23c.4617+1G>C (n.4617+1G>C)
c.4632+1G>C (n.4632+1G>C)
n.1306+1G>C
c.4812+1G>C (n.4812+1G>C)
c.4746+1G>C (n.4746+1G>C)
c.4809+1G>C (n.4809+1G>C)
c.4806+1G>C (n.4806+1G>C)
c.4752+1G>C (n.4752+1G>C)
c.4677+1G>C (n.4677+1G>C)
c.4272+1G>C (n.4272+1G>C)
c.3630+1G>C (n.3630+1G>C)
c.1140+1G>C (n.1140+1G>C)
n.5055+1G>C
10g.71740951G>TCA377160834CDH23c.4617+1G>T (n.4617+1G>T)
c.4632+1G>T (n.4632+1G>T)
n.1306+1G>T
c.4812+1G>T (n.4812+1G>T)
c.4746+1G>T (n.4746+1G>T)
c.4809+1G>T (n.4809+1G>T)
c.4806+1G>T (n.4806+1G>T)
c.4752+1G>T (n.4752+1G>T)
c.4677+1G>T (n.4677+1G>T)
c.4272+1G>T (n.4272+1G>T)
c.3630+1G>T (n.3630+1G>T)
c.1140+1G>T (n.1140+1G>T)
n.5055+1G>T
10g.71740952T>ACA377160837CDH23c.4617+2T>A (n.4617+2T>A)
c.4632+2T>A (n.4632+2T>A)
n.1306+2T>A
c.4812+2T>A (n.4812+2T>A)
c.4746+2T>A (n.4746+2T>A)
c.4809+2T>A (n.4809+2T>A)
c.4806+2T>A (n.4806+2T>A)
c.4752+2T>A (n.4752+2T>A)
c.4677+2T>A (n.4677+2T>A)
c.4272+2T>A (n.4272+2T>A)
c.3630+2T>A (n.3630+2T>A)
c.1140+2T>A (n.1140+2T>A)
n.5055+2T>A
10g.71740952T>CCA377160844CDH23c.4617+2T>C (n.4617+2T>C)
c.4632+2T>C (n.4632+2T>C)
n.1306+2T>C
c.4812+2T>C (n.4812+2T>C)
c.4746+2T>C (n.4746+2T>C)
c.4809+2T>C (n.4809+2T>C)
c.4806+2T>C (n.4806+2T>C)
c.4752+2T>C (n.4752+2T>C)
c.4677+2T>C (n.4677+2T>C)
c.4272+2T>C (n.4272+2T>C)
c.3630+2T>C (n.3630+2T>C)
c.1140+2T>C (n.1140+2T>C)
n.5055+2T>C
 ClinVar dbSNP
10g.71740952T>GCA377160846CDH23c.4617+2T>G (n.4617+2T>G)
c.4632+2T>G (n.4632+2T>G)
n.1306+2T>G
c.4812+2T>G (n.4812+2T>G)
c.4746+2T>G (n.4746+2T>G)
c.4809+2T>G (n.4809+2T>G)
c.4806+2T>G (n.4806+2T>G)
c.4752+2T>G (n.4752+2T>G)
c.4677+2T>G (n.4677+2T>G)
c.4272+2T>G (n.4272+2T>G)
c.3630+2T>G (n.3630+2T>G)
c.1140+2T>G (n.1140+2T>G)
n.5055+2T>G
10g.71740952T=CA1918853876CDH23c.4617+2T= (n.4617+2T=)
c.4632+2T= (n.4632+2T=)
n.1306+2T=
c.4812+2T= (n.4812+2T=)
c.4746+2T= (n.4746+2T=)
c.4809+2T= (n.4809+2T=)
c.4806+2T= (n.4806+2T=)
c.4752+2T= (n.4752+2T=)
c.4677+2T= (n.4677+2T=)
c.4272+2T= (n.4272+2T=)
c.3630+2T= (n.3630+2T=)
c.1140+2T= (n.1140+2T=)
n.5055+2T=
10g.71740953G>ACA645555987CDH23c.4617+3G>A (n.4617+3G>A)
c.4632+3G>A (n.4632+3G>A)
n.1306+3G>A
c.4812+3G>A (n.4812+3G>A)
c.4746+3G>A (n.4746+3G>A)
c.4809+3G>A (n.4809+3G>A)
c.4806+3G>A (n.4806+3G>A)
c.4752+3G>A (n.4752+3G>A)
c.4677+3G>A (n.4677+3G>A)
c.4272+3G>A (n.4272+3G>A)
c.3630+3G>A (n.3630+3G>A)
c.1140+3G>A (n.1140+3G>A)
n.5055+3G>A
 gnomAD v4 COSMIC COSMIC
10g.71740954A=CA1918853877CDH23c.4617+4A= (n.4617+4A=)
c.4632+4A= (n.4632+4A=)
n.1306+4A=
c.4812+4A= (n.4812+4A=)
c.4746+4A= (n.4746+4A=)
c.4809+4A= (n.4809+4A=)
c.4806+4A= (n.4806+4A=)
c.4752+4A= (n.4752+4A=)
c.4677+4A= (n.4677+4A=)
c.4272+4A= (n.4272+4A=)
c.3630+4A= (n.3630+4A=)
c.1140+4A= (n.1140+4A=)
n.5055+4A=
10g.71740954A>CCA1918853878CDH23c.4617+4A>C (n.4617+4A>C)
c.4632+4A>C (n.4632+4A>C)
n.1306+4A>C
c.4812+4A>C (n.4812+4A>C)
c.4746+4A>C (n.4746+4A>C)
c.4809+4A>C (n.4809+4A>C)
c.4806+4A>C (n.4806+4A>C)
c.4752+4A>C (n.4752+4A>C)
c.4677+4A>C (n.4677+4A>C)
c.4272+4A>C (n.4272+4A>C)
c.3630+4A>C (n.3630+4A>C)
c.1140+4A>C (n.1140+4A>C)
n.5055+4A>C
 dbSNP
10g.71740955G>ACA5545097CDH23c.4617+5G>A (n.4617+5G>A)
c.4632+5G>A (n.4632+5G>A)
n.1306+5G>A
c.4812+5G>A (n.4812+5G>A)
c.4746+5G>A (n.4746+5G>A)
c.4809+5G>A (n.4809+5G>A)
c.4806+5G>A (n.4806+5G>A)
c.4752+5G>A (n.4752+5G>A)
c.4677+5G>A (n.4677+5G>A)
c.4272+5G>A (n.4272+5G>A)
c.3630+5G>A (n.3630+5G>A)
c.1140+5G>A (n.1140+5G>A)
n.5055+5G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740955G>CCA5545096CDH23c.4617+5G>C (n.4617+5G>C)
c.4632+5G>C (n.4632+5G>C)
n.1306+5G>C
c.4812+5G>C (n.4812+5G>C)
c.4746+5G>C (n.4746+5G>C)
c.4809+5G>C (n.4809+5G>C)
c.4806+5G>C (n.4806+5G>C)
c.4752+5G>C (n.4752+5G>C)
c.4677+5G>C (n.4677+5G>C)
c.4272+5G>C (n.4272+5G>C)
c.3630+5G>C (n.3630+5G>C)
c.1140+5G>C (n.1140+5G>C)
n.5055+5G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71740955G=CA1918853879CDH23c.4617+5G= (n.4617+5G=)
c.4632+5G= (n.4632+5G=)
n.1306+5G=
c.4812+5G= (n.4812+5G=)
c.4746+5G= (n.4746+5G=)
c.4809+5G= (n.4809+5G=)
c.4806+5G= (n.4806+5G=)
c.4752+5G= (n.4752+5G=)
c.4677+5G= (n.4677+5G=)
c.4272+5G= (n.4272+5G=)
c.3630+5G= (n.3630+5G=)
c.1140+5G= (n.1140+5G=)
n.5055+5G=
10g.71740956G>ACA1918853881CDH23c.4617+6G>A (n.4617+6G>A)
c.4632+6G>A (n.4632+6G>A)
n.1306+6G>A
c.4812+6G>A (n.4812+6G>A)
c.4746+6G>A (n.4746+6G>A)
c.4809+6G>A (n.4809+6G>A)
c.4806+6G>A (n.4806+6G>A)
c.4752+6G>A (n.4752+6G>A)
c.4677+6G>A (n.4677+6G>A)
c.4272+6G>A (n.4272+6G>A)
c.3630+6G>A (n.3630+6G>A)
c.1140+6G>A (n.1140+6G>A)
n.5055+6G>A
 dbSNP gnomAD v4
10g.71740956G=CA1918853880CDH23c.4617+6G= (n.4617+6G=)
c.4632+6G= (n.4632+6G=)
n.1306+6G=
c.4812+6G= (n.4812+6G=)
c.4746+6G= (n.4746+6G=)
c.4809+6G= (n.4809+6G=)
c.4806+6G= (n.4806+6G=)
c.4752+6G= (n.4752+6G=)
c.4677+6G= (n.4677+6G=)
c.4272+6G= (n.4272+6G=)
c.3630+6G= (n.3630+6G=)
c.1140+6G= (n.1140+6G=)
n.5055+6G=
10g.71740957G>ACA5545098CDH23c.4617+7G>A (n.4617+7G>A)
c.4632+7G>A (n.4632+7G>A)
n.1306+7G>A
c.4812+7G>A (n.4812+7G>A)
c.4746+7G>A (n.4746+7G>A)
c.4809+7G>A (n.4809+7G>A)
c.4806+7G>A (n.4806+7G>A)
c.4752+7G>A (n.4752+7G>A)
c.4677+7G>A (n.4677+7G>A)
c.4272+7G>A (n.4272+7G>A)
c.3630+7G>A (n.3630+7G>A)
c.1140+7G>A (n.1140+7G>A)
n.5055+7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740957G=CA1918853882CDH23c.4617+7G= (n.4617+7G=)
c.4632+7G= (n.4632+7G=)
n.1306+7G=
c.4812+7G= (n.4812+7G=)
c.4746+7G= (n.4746+7G=)
c.4809+7G= (n.4809+7G=)
c.4806+7G= (n.4806+7G=)
c.4752+7G= (n.4752+7G=)
c.4677+7G= (n.4677+7G=)
c.4272+7G= (n.4272+7G=)
c.3630+7G= (n.3630+7G=)
c.1140+7G= (n.1140+7G=)
n.5055+7G=
10g.71740957G>TCA2609570250CDH23c.4617+7G>T (n.4617+7G>T)
c.4632+7G>T (n.4632+7G>T)
n.1306+7G>T
c.4812+7G>T (n.4812+7G>T)
c.4746+7G>T (n.4746+7G>T)
c.4809+7G>T (n.4809+7G>T)
c.4806+7G>T (n.4806+7G>T)
c.4752+7G>T (n.4752+7G>T)
c.4677+7G>T (n.4677+7G>T)
c.4272+7G>T (n.4272+7G>T)
c.3630+7G>T (n.3630+7G>T)
c.1140+7G>T (n.1140+7G>T)
n.5055+7G>T
 gnomAD v4
10g.71740958C>ACA137439CDH23c.4617+8C>A (n.4617+8C>A)
c.4632+8C>A (n.4632+8C>A)
n.1306+8C>A
c.4812+8C>A (n.4812+8C>A)
c.4746+8C>A (n.4746+8C>A)
c.4809+8C>A (n.4809+8C>A)
c.4806+8C>A (n.4806+8C>A)
c.4752+8C>A (n.4752+8C>A)
c.4677+8C>A (n.4677+8C>A)
c.4272+8C>A (n.4272+8C>A)
c.3630+8C>A (n.3630+8C>A)
c.1140+8C>A (n.1140+8C>A)
n.5055+8C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71740958C=CA1918853883CDH23c.4617+8C= (n.4617+8C=)
c.4632+8C= (n.4632+8C=)
n.1306+8C=
c.4812+8C= (n.4812+8C=)
c.4746+8C= (n.4746+8C=)
c.4809+8C= (n.4809+8C=)
c.4806+8C= (n.4806+8C=)
c.4752+8C= (n.4752+8C=)
c.4677+8C= (n.4677+8C=)
c.4272+8C= (n.4272+8C=)
c.3630+8C= (n.3630+8C=)
c.1140+8C= (n.1140+8C=)
n.5055+8C=

Number of alleles fetched