Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71798432A=CA1918878438CDH23c.6908A= (p.Glu2303=)
c.841A= (n.841A=)
c.505A= (n.505A=)
c.6923A= (p.Glu2308=)
c.188A= (p.Glu63=)
n.444A=
c.7103A= (p.Glu2368=)
c.7037A= (p.Glu2346=)
c.7100A= (p.Glu2367=)
c.7097A= (p.Glu2366=)
c.7043A= (p.Glu2348=)
c.7013A= (p.Glu2338=)
c.6968A= (p.Glu2323=)
c.6563A= (p.Glu2188=)
c.5921A= (p.Glu1974=)
c.3431A= (p.Glu1144=)
10g.71798432A>CCA377157890CDH23c.6908A>C (p.Glu2303Ala)
c.841A>C (n.841A>C)
c.505A>C (n.505A>C)
c.6923A>C (p.Glu2308Ala)
c.188A>C (p.Glu63Ala)
n.444A>C
c.7103A>C (p.Glu2368Ala)
c.7037A>C (p.Glu2346Ala)
c.7100A>C (p.Glu2367Ala)
c.7097A>C (p.Glu2366Ala)
c.7043A>C (p.Glu2348Ala)
c.7013A>C (p.Glu2338Ala)
c.6968A>C (p.Glu2323Ala)
c.6563A>C (p.Glu2188Ala)
c.5921A>C (p.Glu1974Ala)
c.3431A>C (p.Glu1144Ala)
10g.71798432A>GCA377157894CDH23c.6908A>G (p.Glu2303Gly)
c.841A>G (n.841A>G)
c.505A>G (n.505A>G)
c.6923A>G (p.Glu2308Gly)
c.188A>G (p.Glu63Gly)
n.444A>G
c.7103A>G (p.Glu2368Gly)
c.7037A>G (p.Glu2346Gly)
c.7100A>G (p.Glu2367Gly)
c.7097A>G (p.Glu2366Gly)
c.7043A>G (p.Glu2348Gly)
c.7013A>G (p.Glu2338Gly)
c.6968A>G (p.Glu2323Gly)
c.6563A>G (p.Glu2188Gly)
c.5921A>G (p.Glu1974Gly)
c.3431A>G (p.Glu1144Gly)
 dbSNP
10g.71798432A>TCA377157892CDH23c.6908A>T (p.Glu2303Val)
c.841A>T (n.841A>T)
c.505A>T (n.505A>T)
c.6923A>T (p.Glu2308Val)
c.188A>T (p.Glu63Val)
n.444A>T
c.7103A>T (p.Glu2368Val)
c.7037A>T (p.Glu2346Val)
c.7100A>T (p.Glu2367Val)
c.7097A>T (p.Glu2366Val)
c.7043A>T (p.Glu2348Val)
c.7013A>T (p.Glu2338Val)
c.6968A>T (p.Glu2323Val)
c.6563A>T (p.Glu2188Val)
c.5921A>T (p.Glu1974Val)
c.3431A>T (p.Glu1144Val)
10g.71798433G>ACA470062003CDH23c.6909G>A (p.Glu2303=)
c.842G>A (n.842G>A)
c.506G>A (n.506G>A)
c.6924G>A (p.Glu2308=)
c.189G>A (p.Glu63=)
n.445G>A
c.7104G>A (p.Glu2368=)
c.7038G>A (p.Glu2346=)
c.7101G>A (p.Glu2367=)
c.7098G>A (p.Glu2366=)
c.7044G>A (p.Glu2348=)
c.7014G>A (p.Glu2338=)
c.6969G>A (p.Glu2323=)
c.6564G>A (p.Glu2188=)
c.5922G>A (p.Glu1974=)
c.3432G>A (p.Glu1144=)
 ClinVar dbSNP
10g.71798433G>CCA377157895CDH23c.6909G>C (p.Glu2303Asp)
c.842G>C (n.842G>C)
c.506G>C (n.506G>C)
c.6924G>C (p.Glu2308Asp)
c.189G>C (p.Glu63Asp)
n.445G>C
c.7104G>C (p.Glu2368Asp)
c.7038G>C (p.Glu2346Asp)
c.7101G>C (p.Glu2367Asp)
c.7098G>C (p.Glu2366Asp)
c.7044G>C (p.Glu2348Asp)
c.7014G>C (p.Glu2338Asp)
c.6969G>C (p.Glu2323Asp)
c.6564G>C (p.Glu2188Asp)
c.5922G>C (p.Glu1974Asp)
c.3432G>C (p.Glu1144Asp)
10g.71798433G>TCA377157896CDH23c.6909G>T (p.Glu2303Asp)
c.842G>T (n.842G>T)
c.506G>T (n.506G>T)
c.6924G>T (p.Glu2308Asp)
c.189G>T (p.Glu63Asp)
n.445G>T
c.7104G>T (p.Glu2368Asp)
c.7038G>T (p.Glu2346Asp)
c.7101G>T (p.Glu2367Asp)
c.7098G>T (p.Glu2366Asp)
c.7044G>T (p.Glu2348Asp)
c.7014G>T (p.Glu2338Asp)
c.6969G>T (p.Glu2323Asp)
c.6564G>T (p.Glu2188Asp)
c.5922G>T (p.Glu1974Asp)
c.3432G>T (p.Glu1144Asp)
 gnomAD v4
10g.71798434C>ACA470062004CDH23c.6910C>A (p.Arg2304=)
c.843C>A (n.843C>A)
c.507C>A (n.507C>A)
c.6925C>A (p.Arg2309=)
c.190C>A (p.Arg64=)
n.446C>A
c.7105C>A (p.Arg2369=)
c.7039C>A (p.Arg2347=)
c.7102C>A (p.Arg2368=)
c.7099C>A (p.Arg2367=)
c.7045C>A (p.Arg2349=)
c.7015C>A (p.Arg2339=)
c.6970C>A (p.Arg2324=)
c.6565C>A (p.Arg2189=)
c.5923C>A (p.Arg1975=)
c.3433C>A (p.Arg1145=)
10g.71798434C=CA1918878439CDH23c.6910C= (p.Arg2304=)
c.843C= (n.843C=)
c.507C= (n.507C=)
c.6925C= (p.Arg2309=)
c.190C= (p.Arg64=)
n.446C=
c.7105C= (p.Arg2369=)
c.7039C= (p.Arg2347=)
c.7102C= (p.Arg2368=)
c.7099C= (p.Arg2367=)
c.7045C= (p.Arg2349=)
c.7015C= (p.Arg2339=)
c.6970C= (p.Arg2324=)
c.6565C= (p.Arg2189=)
c.5923C= (p.Arg1975=)
c.3433C= (p.Arg1145=)
10g.71798434C>GCA377157898CDH23c.6910C>G (p.Arg2304Gly)
c.843C>G (n.843C>G)
c.507C>G (n.507C>G)
c.6925C>G (p.Arg2309Gly)
c.190C>G (p.Arg64Gly)
n.446C>G
c.7105C>G (p.Arg2369Gly)
c.7039C>G (p.Arg2347Gly)
c.7102C>G (p.Arg2368Gly)
c.7099C>G (p.Arg2367Gly)
c.7045C>G (p.Arg2349Gly)
c.7015C>G (p.Arg2339Gly)
c.6970C>G (p.Arg2324Gly)
c.6565C>G (p.Arg2189Gly)
c.5923C>G (p.Arg1975Gly)
c.3433C>G (p.Arg1145Gly)
 gnomAD v4
10g.71798434C>TCA377157900CDH23c.6910C>T (p.Arg2304Trp)
c.843C>T (n.843C>T)
c.507C>T (n.507C>T)
c.6925C>T (p.Arg2309Trp)
c.190C>T (p.Arg64Trp)
n.446C>T
c.7105C>T (p.Arg2369Trp)
c.7039C>T (p.Arg2347Trp)
c.7102C>T (p.Arg2368Trp)
c.7099C>T (p.Arg2367Trp)
c.7045C>T (p.Arg2349Trp)
c.7015C>T (p.Arg2339Trp)
c.6970C>T (p.Arg2324Trp)
c.6565C>T (p.Arg2189Trp)
c.5923C>T (p.Arg1975Trp)
c.3433C>T (p.Arg1145Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.71798435G>ACA137554CDH23c.6911G>A (p.Arg2304Gln)
c.844G>A (n.844G>A)
c.508G>A (n.508G>A)
c.6926G>A (p.Arg2309Gln)
c.191G>A (p.Arg64Gln)
n.447G>A
c.7106G>A (p.Arg2369Gln)
c.7040G>A (p.Arg2347Gln)
c.7103G>A (p.Arg2368Gln)
c.7100G>A (p.Arg2367Gln)
c.7046G>A (p.Arg2349Gln)
c.7016G>A (p.Arg2339Gln)
c.6971G>A (p.Arg2324Gln)
c.6566G>A (p.Arg2189Gln)
c.5924G>A (p.Arg1975Gln)
c.3434G>A (p.Arg1145Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71798435G>CCA377157902CDH23c.6911G>C (p.Arg2304Pro)
c.844G>C (n.844G>C)
c.508G>C (n.508G>C)
c.6926G>C (p.Arg2309Pro)
c.191G>C (p.Arg64Pro)
n.447G>C
c.7106G>C (p.Arg2369Pro)
c.7040G>C (p.Arg2347Pro)
c.7103G>C (p.Arg2368Pro)
c.7100G>C (p.Arg2367Pro)
c.7046G>C (p.Arg2349Pro)
c.7016G>C (p.Arg2339Pro)
c.6971G>C (p.Arg2324Pro)
c.6566G>C (p.Arg2189Pro)
c.5924G>C (p.Arg1975Pro)
c.3434G>C (p.Arg1145Pro)
10g.71798435G=CA1918878440CDH23c.6911G= (p.Arg2304=)
c.844G= (n.844G=)
c.508G= (n.508G=)
c.6926G= (p.Arg2309=)
c.191G= (p.Arg64=)
n.447G=
c.7106G= (p.Arg2369=)
c.7040G= (p.Arg2347=)
c.7103G= (p.Arg2368=)
c.7100G= (p.Arg2367=)
c.7046G= (p.Arg2349=)
c.7016G= (p.Arg2339=)
c.6971G= (p.Arg2324=)
c.6566G= (p.Arg2189=)
c.5924G= (p.Arg1975=)
c.3434G= (p.Arg1145=)
10g.71798435G>TCA377157903CDH23c.6911G>T (p.Arg2304Leu)
c.844G>T (n.844G>T)
c.508G>T (n.508G>T)
c.6926G>T (p.Arg2309Leu)
c.191G>T (p.Arg64Leu)
n.447G>T
c.7106G>T (p.Arg2369Leu)
c.7040G>T (p.Arg2347Leu)
c.7103G>T (p.Arg2368Leu)
c.7100G>T (p.Arg2367Leu)
c.7046G>T (p.Arg2349Leu)
c.7016G>T (p.Arg2339Leu)
c.6971G>T (p.Arg2324Leu)
c.6566G>T (p.Arg2189Leu)
c.5924G>T (p.Arg1975Leu)
c.3434G>T (p.Arg1145Leu)
10g.71798436delCA2609587785CDH23c.6912del (p.Ile2305SerfsTer?)
c.845del (n.845del)
c.509del (n.509del)
c.6927del (p.Ile2310SerfsTer?)
c.192del (p.Ile65SerfsTer?)
n.448del
c.7107del (p.Ile2370SerfsTer?)
c.7041del (p.Ile2348SerfsTer?)
c.7104del (p.Ile2369SerfsTer?)
c.7101del (p.Ile2368SerfsTer?)
c.7047del (p.Ile2350SerfsTer?)
c.7017del (p.Ile2340SerfsTer?)
c.6972del (p.Ile2325SerfsTer?)
c.6567del (p.Ile2190SerfsTer?)
c.5925del (p.Ile1976SerfsTer?)
c.3435del (p.Ile1146SerfsTer?)
 gnomAD v4
10g.71798436G>ACA470062005CDH23c.6912G>A (p.Arg2304=)
c.845G>A (n.845G>A)
c.509G>A (n.509G>A)
c.6927G>A (p.Arg2309=)
c.192G>A (p.Arg64=)
n.448G>A
c.7107G>A (p.Arg2369=)
c.7041G>A (p.Arg2347=)
c.7104G>A (p.Arg2368=)
c.7101G>A (p.Arg2367=)
c.7047G>A (p.Arg2349=)
c.7017G>A (p.Arg2339=)
c.6972G>A (p.Arg2324=)
c.6567G>A (p.Arg2189=)
c.5925G>A (p.Arg1975=)
c.3435G>A (p.Arg1145=)
10g.71798436G>CCA470062006CDH23c.6912G>C (p.Arg2304=)
c.845G>C (n.845G>C)
c.509G>C (n.509G>C)
c.6927G>C (p.Arg2309=)
c.192G>C (p.Arg64=)
n.448G>C
c.7107G>C (p.Arg2369=)
c.7041G>C (p.Arg2347=)
c.7104G>C (p.Arg2368=)
c.7101G>C (p.Arg2367=)
c.7047G>C (p.Arg2349=)
c.7017G>C (p.Arg2339=)
c.6972G>C (p.Arg2324=)
c.6567G>C (p.Arg2189=)
c.5925G>C (p.Arg1975=)
c.3435G>C (p.Arg1145=)
10g.71798436G>TCA470062007CDH23c.6912G>T (p.Arg2304=)
c.845G>T (n.845G>T)
c.509G>T (n.509G>T)
c.6927G>T (p.Arg2309=)
c.192G>T (p.Arg64=)
n.448G>T
c.7107G>T (p.Arg2369=)
c.7041G>T (p.Arg2347=)
c.7104G>T (p.Arg2368=)
c.7101G>T (p.Arg2367=)
c.7047G>T (p.Arg2349=)
c.7017G>T (p.Arg2339=)
c.6972G>T (p.Arg2324=)
c.6567G>T (p.Arg2189=)
c.5925G>T (p.Arg1975=)
c.3435G>T (p.Arg1145=)
10g.71798437A>CCA377157905CDH23c.6913A>C (p.Ile2305Leu)
c.846A>C (n.846A>C)
c.510A>C (n.510A>C)
c.6928A>C (p.Ile2310Leu)
c.193A>C (p.Ile65Leu)
n.449A>C
c.7108A>C (p.Ile2370Leu)
c.7042A>C (p.Ile2348Leu)
c.7105A>C (p.Ile2369Leu)
c.7102A>C (p.Ile2368Leu)
c.7048A>C (p.Ile2350Leu)
c.7018A>C (p.Ile2340Leu)
c.6973A>C (p.Ile2325Leu)
c.6568A>C (p.Ile2190Leu)
c.5926A>C (p.Ile1976Leu)
c.3436A>C (p.Ile1146Leu)
10g.71798437A>GCA377157907CDH23c.6913A>G (p.Ile2305Val)
c.846A>G (n.846A>G)
c.510A>G (n.510A>G)
c.6928A>G (p.Ile2310Val)
c.193A>G (p.Ile65Val)
n.449A>G
c.7108A>G (p.Ile2370Val)
c.7042A>G (p.Ile2348Val)
c.7105A>G (p.Ile2369Val)
c.7102A>G (p.Ile2368Val)
c.7048A>G (p.Ile2350Val)
c.7018A>G (p.Ile2340Val)
c.6973A>G (p.Ile2325Val)
c.6568A>G (p.Ile2190Val)
c.5926A>G (p.Ile1976Val)
c.3436A>G (p.Ile1146Val)
10g.71798437A>TCA377157909CDH23c.6913A>T (p.Ile2305Phe)
c.846A>T (n.846A>T)
c.510A>T (n.510A>T)
c.6928A>T (p.Ile2310Phe)
c.193A>T (p.Ile65Phe)
n.449A>T
c.7108A>T (p.Ile2370Phe)
c.7042A>T (p.Ile2348Phe)
c.7105A>T (p.Ile2369Phe)
c.7102A>T (p.Ile2368Phe)
c.7048A>T (p.Ile2350Phe)
c.7018A>T (p.Ile2340Phe)
c.6973A>T (p.Ile2325Phe)
c.6568A>T (p.Ile2190Phe)
c.5926A>T (p.Ile1976Phe)
c.3436A>T (p.Ile1146Phe)
10g.71798438T>ACA377157913CDH23c.6914T>A (p.Ile2305Asn)
c.847T>A (n.847T>A)
c.511T>A (n.511T>A)
c.6929T>A (p.Ile2310Asn)
c.194T>A (p.Ile65Asn)
n.450T>A
c.7109T>A (p.Ile2370Asn)
c.7043T>A (p.Ile2348Asn)
c.7106T>A (p.Ile2369Asn)
c.7103T>A (p.Ile2368Asn)
c.7049T>A (p.Ile2350Asn)
c.7019T>A (p.Ile2340Asn)
c.6974T>A (p.Ile2325Asn)
c.6569T>A (p.Ile2190Asn)
c.5927T>A (p.Ile1976Asn)
c.3437T>A (p.Ile1146Asn)
10g.71798438T>CCA377157911CDH23c.6914T>C (p.Ile2305Thr)
c.847T>C (n.847T>C)
c.511T>C (n.511T>C)
c.6929T>C (p.Ile2310Thr)
c.194T>C (p.Ile65Thr)
n.450T>C
c.7109T>C (p.Ile2370Thr)
c.7043T>C (p.Ile2348Thr)
c.7106T>C (p.Ile2369Thr)
c.7103T>C (p.Ile2368Thr)
c.7049T>C (p.Ile2350Thr)
c.7019T>C (p.Ile2340Thr)
c.6974T>C (p.Ile2325Thr)
c.6569T>C (p.Ile2190Thr)
c.5927T>C (p.Ile1976Thr)
c.3437T>C (p.Ile1146Thr)
10g.71798438T>GCA377157910CDH23c.6914T>G (p.Ile2305Ser)
c.847T>G (n.847T>G)
c.511T>G (n.511T>G)
c.6929T>G (p.Ile2310Ser)
c.194T>G (p.Ile65Ser)
n.450T>G
c.7109T>G (p.Ile2370Ser)
c.7043T>G (p.Ile2348Ser)
c.7106T>G (p.Ile2369Ser)
c.7103T>G (p.Ile2368Ser)
c.7049T>G (p.Ile2350Ser)
c.7019T>G (p.Ile2340Ser)
c.6974T>G (p.Ile2325Ser)
c.6569T>G (p.Ile2190Ser)
c.5927T>G (p.Ile1976Ser)
c.3437T>G (p.Ile1146Ser)
10g.71798439C>ACA5546221CDH23c.6915C>A (p.Ile2305=)
c.848C>A (n.848C>A)
c.512C>A (n.512C>A)
c.6930C>A (p.Ile2310=)
c.195C>A (p.Ile65=)
n.451C>A
c.7110C>A (p.Ile2370=)
c.7044C>A (p.Ile2348=)
c.7107C>A (p.Ile2369=)
c.7104C>A (p.Ile2368=)
c.7050C>A (p.Ile2350=)
c.7020C>A (p.Ile2340=)
c.6975C>A (p.Ile2325=)
c.6570C>A (p.Ile2190=)
c.5928C>A (p.Ile1976=)
c.3438C>A (p.Ile1146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798439C=CA1918878441CDH23c.6915C= (p.Ile2305=)
c.848C= (n.848C=)
c.512C= (n.512C=)
c.6930C= (p.Ile2310=)
c.195C= (p.Ile65=)
n.451C=
c.7110C= (p.Ile2370=)
c.7044C= (p.Ile2348=)
c.7107C= (p.Ile2369=)
c.7104C= (p.Ile2368=)
c.7050C= (p.Ile2350=)
c.7020C= (p.Ile2340=)
c.6975C= (p.Ile2325=)
c.6570C= (p.Ile2190=)
c.5928C= (p.Ile1976=)
c.3438C= (p.Ile1146=)
10g.71798439C>GCA377157916CDH23c.6915C>G (p.Ile2305Met)
c.848C>G (n.848C>G)
c.512C>G (n.512C>G)
c.6930C>G (p.Ile2310Met)
c.195C>G (p.Ile65Met)
n.451C>G
c.7110C>G (p.Ile2370Met)
c.7044C>G (p.Ile2348Met)
c.7107C>G (p.Ile2369Met)
c.7104C>G (p.Ile2368Met)
c.7050C>G (p.Ile2350Met)
c.7020C>G (p.Ile2340Met)
c.6975C>G (p.Ile2325Met)
c.6570C>G (p.Ile2190Met)
c.5928C>G (p.Ile1976Met)
c.3438C>G (p.Ile1146Met)
10g.71798439C>TCA5546220CDH23c.6915C>T (p.Ile2305=)
c.848C>T (n.848C>T)
c.512C>T (n.512C>T)
c.6930C>T (p.Ile2310=)
c.195C>T (p.Ile65=)
n.451C>T
c.7110C>T (p.Ile2370=)
c.7044C>T (p.Ile2348=)
c.7107C>T (p.Ile2369=)
c.7104C>T (p.Ile2368=)
c.7050C>T (p.Ile2350=)
c.7020C>T (p.Ile2340=)
c.6975C>T (p.Ile2325=)
c.6570C>T (p.Ile2190=)
c.5928C>T (p.Ile1976=)
c.3438C>T (p.Ile1146=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798440C>ACA377157918CDH23c.6916C>A (p.Leu2306Met)
c.849C>A (n.849C>A)
c.513C>A (n.513C>A)
c.6931C>A (p.Leu2311Met)
c.196C>A (p.Leu66Met)
n.452C>A
c.7111C>A (p.Leu2371Met)
c.7045C>A (p.Leu2349Met)
c.7108C>A (p.Leu2370Met)
c.7105C>A (p.Leu2369Met)
c.7051C>A (p.Leu2351Met)
c.7021C>A (p.Leu2341Met)
c.6976C>A (p.Leu2326Met)
c.6571C>A (p.Leu2191Met)
c.5929C>A (p.Leu1977Met)
c.3439C>A (p.Leu1147Met)
10g.71798440C>GCA377157920CDH23c.6916C>G (p.Leu2306Val)
c.849C>G (n.849C>G)
c.513C>G (n.513C>G)
c.6931C>G (p.Leu2311Val)
c.196C>G (p.Leu66Val)
n.452C>G
c.7111C>G (p.Leu2371Val)
c.7045C>G (p.Leu2349Val)
c.7108C>G (p.Leu2370Val)
c.7105C>G (p.Leu2369Val)
c.7051C>G (p.Leu2351Val)
c.7021C>G (p.Leu2341Val)
c.6976C>G (p.Leu2326Val)
c.6571C>G (p.Leu2191Val)
c.5929C>G (p.Leu1977Val)
c.3439C>G (p.Leu1147Val)
10g.71798440C>TCA470062008CDH23c.6916C>T (p.Leu2306=)
c.849C>T (n.849C>T)
c.513C>T (n.513C>T)
c.6931C>T (p.Leu2311=)
c.196C>T (p.Leu66=)
n.452C>T
c.7111C>T (p.Leu2371=)
c.7045C>T (p.Leu2349=)
c.7108C>T (p.Leu2370=)
c.7105C>T (p.Leu2369=)
c.7051C>T (p.Leu2351=)
c.7021C>T (p.Leu2341=)
c.6976C>T (p.Leu2326=)
c.6571C>T (p.Leu2191=)
c.5929C>T (p.Leu1977=)
c.3439C>T (p.Leu1147=)
 ClinVar
10g.71798441T>ACA377157921CDH23c.6917T>A (p.Leu2306Gln)
c.850T>A (n.850T>A)
c.514T>A (n.514T>A)
c.6932T>A (p.Leu2311Gln)
c.197T>A (p.Leu66Gln)
n.453T>A
c.7112T>A (p.Leu2371Gln)
c.7046T>A (p.Leu2349Gln)
c.7109T>A (p.Leu2370Gln)
c.7106T>A (p.Leu2369Gln)
c.7052T>A (p.Leu2351Gln)
c.7022T>A (p.Leu2341Gln)
c.6977T>A (p.Leu2326Gln)
c.6572T>A (p.Leu2191Gln)
c.5930T>A (p.Leu1977Gln)
c.3440T>A (p.Leu1147Gln)
10g.71798441T>CCA377157923CDH23c.6917T>C (p.Leu2306Pro)
c.850T>C (n.850T>C)
c.514T>C (n.514T>C)
c.6932T>C (p.Leu2311Pro)
c.197T>C (p.Leu66Pro)
n.453T>C
c.7112T>C (p.Leu2371Pro)
c.7046T>C (p.Leu2349Pro)
c.7109T>C (p.Leu2370Pro)
c.7106T>C (p.Leu2369Pro)
c.7052T>C (p.Leu2351Pro)
c.7022T>C (p.Leu2341Pro)
c.6977T>C (p.Leu2326Pro)
c.6572T>C (p.Leu2191Pro)
c.5930T>C (p.Leu1977Pro)
c.3440T>C (p.Leu1147Pro)
 dbSNP gnomAD v4
10g.71798441T>GCA377157924CDH23c.6917T>G (p.Leu2306Arg)
c.850T>G (n.850T>G)
c.514T>G (n.514T>G)
c.6932T>G (p.Leu2311Arg)
c.197T>G (p.Leu66Arg)
n.453T>G
c.7112T>G (p.Leu2371Arg)
c.7046T>G (p.Leu2349Arg)
c.7109T>G (p.Leu2370Arg)
c.7106T>G (p.Leu2369Arg)
c.7052T>G (p.Leu2351Arg)
c.7022T>G (p.Leu2341Arg)
c.6977T>G (p.Leu2326Arg)
c.6572T>G (p.Leu2191Arg)
c.5930T>G (p.Leu1977Arg)
c.3440T>G (p.Leu1147Arg)
10g.71798441T=CA1918878442CDH23c.6917T= (p.Leu2306=)
c.850T= (n.850T=)
c.514T= (n.514T=)
c.6932T= (p.Leu2311=)
c.197T= (p.Leu66=)
n.453T=
c.7112T= (p.Leu2371=)
c.7046T= (p.Leu2349=)
c.7109T= (p.Leu2370=)
c.7106T= (p.Leu2369=)
c.7052T= (p.Leu2351=)
c.7022T= (p.Leu2341=)
c.6977T= (p.Leu2326=)
c.6572T= (p.Leu2191=)
c.5930T= (p.Leu1977=)
c.3440T= (p.Leu1147=)
10g.71798442G>ACA137556CDH23c.6918G>A (p.Leu2306=)
c.851G>A (n.851G>A)
c.515G>A (n.515G>A)
c.6933G>A (p.Leu2311=)
c.198G>A (p.Leu66=)
n.454G>A
c.7113G>A (p.Leu2371=)
c.7047G>A (p.Leu2349=)
c.7110G>A (p.Leu2370=)
c.7107G>A (p.Leu2369=)
c.7053G>A (p.Leu2351=)
c.7023G>A (p.Leu2341=)
c.6978G>A (p.Leu2326=)
c.6573G>A (p.Leu2191=)
c.5931G>A (p.Leu1977=)
c.3441G>A (p.Leu1147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798442G>CCA470062012CDH23c.6918G>C (p.Leu2306=)
c.851G>C (n.851G>C)
c.515G>C (n.515G>C)
c.6933G>C (p.Leu2311=)
c.198G>C (p.Leu66=)
n.454G>C
c.7113G>C (p.Leu2371=)
c.7047G>C (p.Leu2349=)
c.7110G>C (p.Leu2370=)
c.7107G>C (p.Leu2369=)
c.7053G>C (p.Leu2351=)
c.7023G>C (p.Leu2341=)
c.6978G>C (p.Leu2326=)
c.6573G>C (p.Leu2191=)
c.5931G>C (p.Leu1977=)
c.3441G>C (p.Leu1147=)
10g.71798442G=CA1918878443CDH23c.6918G= (p.Leu2306=)
c.851G= (n.851G=)
c.515G= (n.515G=)
c.6933G= (p.Leu2311=)
c.198G= (p.Leu66=)
n.454G=
c.7113G= (p.Leu2371=)
c.7047G= (p.Leu2349=)
c.7110G= (p.Leu2370=)
c.7107G= (p.Leu2369=)
c.7053G= (p.Leu2351=)
c.7023G= (p.Leu2341=)
c.6978G= (p.Leu2326=)
c.6573G= (p.Leu2191=)
c.5931G= (p.Leu1977=)
c.3441G= (p.Leu1147=)
10g.71798442G>TCA470062010CDH23c.6918G>T (p.Leu2306=)
c.851G>T (n.851G>T)
c.515G>T (n.515G>T)
c.6933G>T (p.Leu2311=)
c.198G>T (p.Leu66=)
n.454G>T
c.7113G>T (p.Leu2371=)
c.7047G>T (p.Leu2349=)
c.7110G>T (p.Leu2370=)
c.7107G>T (p.Leu2369=)
c.7053G>T (p.Leu2351=)
c.7023G>T (p.Leu2341=)
c.6978G>T (p.Leu2326=)
c.6573G>T (p.Leu2191=)
c.5931G>T (p.Leu1977=)
c.3441G>T (p.Leu1147=)
10g.71798443G>ACA377157927CDH23c.6919G>A (p.Glu2307Lys)
c.852G>A (n.852G>A)
c.516G>A (n.516G>A)
c.6934G>A (p.Glu2312Lys)
c.199G>A (p.Glu67Lys)
n.455G>A
c.7114G>A (p.Glu2372Lys)
c.7048G>A (p.Glu2350Lys)
c.7111G>A (p.Glu2371Lys)
c.7108G>A (p.Glu2370Lys)
c.7054G>A (p.Glu2352Lys)
c.7024G>A (p.Glu2342Lys)
c.6979G>A (p.Glu2327Lys)
c.6574G>A (p.Glu2192Lys)
c.5932G>A (p.Glu1978Lys)
c.3442G>A (p.Glu1148Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.71798443G>CCA377157929CDH23c.6919G>C (p.Glu2307Gln)
c.852G>C (n.852G>C)
c.516G>C (n.516G>C)
c.6934G>C (p.Glu2312Gln)
c.199G>C (p.Glu67Gln)
n.455G>C
c.7114G>C (p.Glu2372Gln)
c.7048G>C (p.Glu2350Gln)
c.7111G>C (p.Glu2371Gln)
c.7108G>C (p.Glu2370Gln)
c.7054G>C (p.Glu2352Gln)
c.7024G>C (p.Glu2342Gln)
c.6979G>C (p.Glu2327Gln)
c.6574G>C (p.Glu2192Gln)
c.5932G>C (p.Glu1978Gln)
c.3442G>C (p.Glu1148Gln)
10g.71798443G=CA1918878444CDH23c.6919G= (p.Glu2307=)
c.852G= (n.852G=)
c.516G= (n.516G=)
c.6934G= (p.Glu2312=)
c.199G= (p.Glu67=)
n.455G=
c.7114G= (p.Glu2372=)
c.7048G= (p.Glu2350=)
c.7111G= (p.Glu2371=)
c.7108G= (p.Glu2370=)
c.7054G= (p.Glu2352=)
c.7024G= (p.Glu2342=)
c.6979G= (p.Glu2327=)
c.6574G= (p.Glu2192=)
c.5932G= (p.Glu1978=)
c.3442G= (p.Glu1148=)
10g.71798443G>TCA377157930CDH23c.6919G>T (p.Glu2307Ter)
c.852G>T (n.852G>T)
c.516G>T (n.516G>T)
c.6934G>T (p.Glu2312Ter)
c.199G>T (p.Glu67Ter)
n.455G>T
c.7114G>T (p.Glu2372Ter)
c.7048G>T (p.Glu2350Ter)
c.7111G>T (p.Glu2371Ter)
c.7108G>T (p.Glu2370Ter)
c.7054G>T (p.Glu2352Ter)
c.7024G>T (p.Glu2342Ter)
c.6979G>T (p.Glu2327Ter)
c.6574G>T (p.Glu2192Ter)
c.5932G>T (p.Glu1978Ter)
c.3442G>T (p.Glu1148Ter)
10g.71798444A>CCA377157932CDH23c.6920A>C (p.Glu2307Ala)
c.853A>C (n.853A>C)
c.517A>C (n.517A>C)
c.6935A>C (p.Glu2312Ala)
c.200A>C (p.Glu67Ala)
n.456A>C
c.7115A>C (p.Glu2372Ala)
c.7049A>C (p.Glu2350Ala)
c.7112A>C (p.Glu2371Ala)
c.7109A>C (p.Glu2370Ala)
c.7055A>C (p.Glu2352Ala)
c.7025A>C (p.Glu2342Ala)
c.6980A>C (p.Glu2327Ala)
c.6575A>C (p.Glu2192Ala)
c.5933A>C (p.Glu1978Ala)
c.3443A>C (p.Glu1148Ala)
10g.71798444A>GCA377157934CDH23c.6920A>G (p.Glu2307Gly)
c.853A>G (n.853A>G)
c.517A>G (n.517A>G)
c.6935A>G (p.Glu2312Gly)
c.200A>G (p.Glu67Gly)
n.456A>G
c.7115A>G (p.Glu2372Gly)
c.7049A>G (p.Glu2350Gly)
c.7112A>G (p.Glu2371Gly)
c.7109A>G (p.Glu2370Gly)
c.7055A>G (p.Glu2352Gly)
c.7025A>G (p.Glu2342Gly)
c.6980A>G (p.Glu2327Gly)
c.6575A>G (p.Glu2192Gly)
c.5933A>G (p.Glu1978Gly)
c.3443A>G (p.Glu1148Gly)
 ClinVar gnomAD v4
10g.71798444A>TCA377157931CDH23c.6920A>T (p.Glu2307Val)
c.853A>T (n.853A>T)
c.517A>T (n.517A>T)
c.6935A>T (p.Glu2312Val)
c.200A>T (p.Glu67Val)
n.456A>T
c.7115A>T (p.Glu2372Val)
c.7049A>T (p.Glu2350Val)
c.7112A>T (p.Glu2371Val)
c.7109A>T (p.Glu2370Val)
c.7055A>T (p.Glu2352Val)
c.7025A>T (p.Glu2342Val)
c.6980A>T (p.Glu2327Val)
c.6575A>T (p.Glu2192Val)
c.5933A>T (p.Glu1978Val)
c.3443A>T (p.Glu1148Val)
10g.71798445G>ACA470062014CDH23c.6921G>A (p.Glu2307=)
c.854G>A (n.854G>A)
c.518G>A (n.518G>A)
c.6936G>A (p.Glu2312=)
c.201G>A (p.Glu67=)
n.457G>A
c.7116G>A (p.Glu2372=)
c.7050G>A (p.Glu2350=)
c.7113G>A (p.Glu2371=)
c.7110G>A (p.Glu2370=)
c.7056G>A (p.Glu2352=)
c.7026G>A (p.Glu2342=)
c.6981G>A (p.Glu2327=)
c.6576G>A (p.Glu2192=)
c.5934G>A (p.Glu1978=)
c.3444G>A (p.Glu1148=)
 ClinVar dbSNP gnomAD v4
10g.71798445G>CCA377157937CDH23c.6921G>C (p.Glu2307Asp)
c.854G>C (n.854G>C)
c.518G>C (n.518G>C)
c.6936G>C (p.Glu2312Asp)
c.201G>C (p.Glu67Asp)
n.457G>C
c.7116G>C (p.Glu2372Asp)
c.7050G>C (p.Glu2350Asp)
c.7113G>C (p.Glu2371Asp)
c.7110G>C (p.Glu2370Asp)
c.7056G>C (p.Glu2352Asp)
c.7026G>C (p.Glu2342Asp)
c.6981G>C (p.Glu2327Asp)
c.6576G>C (p.Glu2192Asp)
c.5934G>C (p.Glu1978Asp)
c.3444G>C (p.Glu1148Asp)
10g.71798445G=CA1918878445CDH23c.6921G= (p.Glu2307=)
c.854G= (n.854G=)
c.518G= (n.518G=)
c.6936G= (p.Glu2312=)
c.201G= (p.Glu67=)
n.457G=
c.7116G= (p.Glu2372=)
c.7050G= (p.Glu2350=)
c.7113G= (p.Glu2371=)
c.7110G= (p.Glu2370=)
c.7056G= (p.Glu2352=)
c.7026G= (p.Glu2342=)
c.6981G= (p.Glu2327=)
c.6576G= (p.Glu2192=)
c.5934G= (p.Glu1978=)
c.3444G= (p.Glu1148=)
10g.71798445G>TCA377157935CDH23c.6921G>T (p.Glu2307Asp)
c.854G>T (n.854G>T)
c.518G>T (n.518G>T)
c.6936G>T (p.Glu2312Asp)
c.201G>T (p.Glu67Asp)
n.457G>T
c.7116G>T (p.Glu2372Asp)
c.7050G>T (p.Glu2350Asp)
c.7113G>T (p.Glu2371Asp)
c.7110G>T (p.Glu2370Asp)
c.7056G>T (p.Glu2352Asp)
c.7026G>T (p.Glu2342Asp)
c.6981G>T (p.Glu2327Asp)
c.6576G>T (p.Glu2192Asp)
c.5934G>T (p.Glu1978Asp)
c.3444G>T (p.Glu1148Asp)
10g.71798449dupCA2788486866CDH23c.6925dup (p.Ala2309GlyfsTer16)
c.858dup (n.858dup)
c.522dup (n.522dup)
c.6940dup (p.Ala2314GlyfsTer16)
c.205dup (p.Ala69GlyfsTer16)
n.461dup
c.7120dup (p.Ala2374GlyfsTer16)
c.7054dup (p.Ala2352GlyfsTer16)
c.7117dup (p.Ala2373GlyfsTer16)
c.7114dup (p.Ala2372GlyfsTer16)
c.7060dup (p.Ala2354GlyfsTer16)
c.7030dup (p.Ala2344GlyfsTer16)
c.6985dup (p.Ala2329GlyfsTer16)
c.6580dup (p.Ala2194GlyfsTer16)
c.5938dup (p.Ala1980GlyfsTer16)
c.3448dup (p.Ala1150GlyfsTer16)
10g.71798449delCA2580081842CDH23c.6925del (p.Ala2309ProfsTer?)
c.858del (n.858del)
c.522del (n.522del)
c.6940del (p.Ala2314ProfsTer?)
c.205del (p.Ala69ProfsTer?)
n.461del
c.7120del (p.Ala2374ProfsTer?)
c.7054del (p.Ala2352ProfsTer?)
c.7117del (p.Ala2373ProfsTer?)
c.7114del (p.Ala2372ProfsTer?)
c.7060del (p.Ala2354ProfsTer?)
c.7030del (p.Ala2344ProfsTer?)
c.6985del (p.Ala2329ProfsTer?)
c.6580del (p.Ala2194ProfsTer?)
c.5938del (p.Ala1980ProfsTer?)
c.3448del (p.Ala1150ProfsTer?)
 ClinVar
10g.71798446G>ACA377157938CDH23c.6922G>A (p.Gly2308Arg)
c.855G>A (n.855G>A)
c.519G>A (n.519G>A)
c.6937G>A (p.Gly2313Arg)
c.202G>A (p.Gly68Arg)
n.458G>A
c.7117G>A (p.Gly2373Arg)
c.7051G>A (p.Gly2351Arg)
c.7114G>A (p.Gly2372Arg)
c.7111G>A (p.Gly2371Arg)
c.7057G>A (p.Gly2353Arg)
c.7027G>A (p.Gly2343Arg)
c.6982G>A (p.Gly2328Arg)
c.6577G>A (p.Gly2193Arg)
c.5935G>A (p.Gly1979Arg)
c.3445G>A (p.Gly1149Arg)
10g.71798446G>CCA377157939CDH23c.6922G>C (p.Gly2308Arg)
c.855G>C (n.855G>C)
c.519G>C (n.519G>C)
c.6937G>C (p.Gly2313Arg)
c.202G>C (p.Gly68Arg)
n.458G>C
c.7117G>C (p.Gly2373Arg)
c.7051G>C (p.Gly2351Arg)
c.7114G>C (p.Gly2372Arg)
c.7111G>C (p.Gly2371Arg)
c.7057G>C (p.Gly2353Arg)
c.7027G>C (p.Gly2343Arg)
c.6982G>C (p.Gly2328Arg)
c.6577G>C (p.Gly2193Arg)
c.5935G>C (p.Gly1979Arg)
c.3445G>C (p.Gly1149Arg)
10g.71798446G>TCA377157940CDH23c.6922G>T (p.Gly2308Trp)
c.855G>T (n.855G>T)
c.519G>T (n.519G>T)
c.6937G>T (p.Gly2313Trp)
c.202G>T (p.Gly68Trp)
n.458G>T
c.7117G>T (p.Gly2373Trp)
c.7051G>T (p.Gly2351Trp)
c.7114G>T (p.Gly2372Trp)
c.7111G>T (p.Gly2371Trp)
c.7057G>T (p.Gly2353Trp)
c.7027G>T (p.Gly2343Trp)
c.6982G>T (p.Gly2328Trp)
c.6577G>T (p.Gly2193Trp)
c.5935G>T (p.Gly1979Trp)
c.3445G>T (p.Gly1149Trp)
10g.71798447G>ACA377157942CDH23c.6923G>A (p.Gly2308Glu)
c.856G>A (n.856G>A)
c.520G>A (n.520G>A)
c.6938G>A (p.Gly2313Glu)
c.203G>A (p.Gly68Glu)
n.459G>A
c.7118G>A (p.Gly2373Glu)
c.7052G>A (p.Gly2351Glu)
c.7115G>A (p.Gly2372Glu)
c.7112G>A (p.Gly2371Glu)
c.7058G>A (p.Gly2353Glu)
c.7028G>A (p.Gly2343Glu)
c.6983G>A (p.Gly2328Glu)
c.6578G>A (p.Gly2193Glu)
c.5936G>A (p.Gly1979Glu)
c.3446G>A (p.Gly1149Glu)
10g.71798447G>CCA377157944CDH23c.6923G>C (p.Gly2308Ala)
c.856G>C (n.856G>C)
c.520G>C (n.520G>C)
c.6938G>C (p.Gly2313Ala)
c.203G>C (p.Gly68Ala)
n.459G>C
c.7118G>C (p.Gly2373Ala)
c.7052G>C (p.Gly2351Ala)
c.7115G>C (p.Gly2372Ala)
c.7112G>C (p.Gly2371Ala)
c.7058G>C (p.Gly2353Ala)
c.7028G>C (p.Gly2343Ala)
c.6983G>C (p.Gly2328Ala)
c.6578G>C (p.Gly2193Ala)
c.5936G>C (p.Gly1979Ala)
c.3446G>C (p.Gly1149Ala)
10g.71798447G>TCA377157946CDH23c.6923G>T (p.Gly2308Val)
c.856G>T (n.856G>T)
c.520G>T (n.520G>T)
c.6938G>T (p.Gly2313Val)
c.203G>T (p.Gly68Val)
n.459G>T
c.7118G>T (p.Gly2373Val)
c.7052G>T (p.Gly2351Val)
c.7115G>T (p.Gly2372Val)
c.7112G>T (p.Gly2371Val)
c.7058G>T (p.Gly2353Val)
c.7028G>T (p.Gly2343Val)
c.6983G>T (p.Gly2328Val)
c.6578G>T (p.Gly2193Val)
c.5936G>T (p.Gly1979Val)
c.3446G>T (p.Gly1149Val)
 gnomAD v4
10g.71798448G>ACA470062018CDH23c.6924G>A (p.Gly2308=)
c.857G>A (n.857G>A)
c.521G>A (n.521G>A)
c.6939G>A (p.Gly2313=)
c.204G>A (p.Gly68=)
n.460G>A
c.7119G>A (p.Gly2373=)
c.7053G>A (p.Gly2351=)
c.7116G>A (p.Gly2372=)
c.7113G>A (p.Gly2371=)
c.7059G>A (p.Gly2353=)
c.7029G>A (p.Gly2343=)
c.6984G>A (p.Gly2328=)
c.6579G>A (p.Gly2193=)
c.5937G>A (p.Gly1979=)
c.3447G>A (p.Gly1149=)
10g.71798448G>CCA470062019CDH23c.6924G>C (p.Gly2308=)
c.857G>C (n.857G>C)
c.521G>C (n.521G>C)
c.6939G>C (p.Gly2313=)
c.204G>C (p.Gly68=)
n.460G>C
c.7119G>C (p.Gly2373=)
c.7053G>C (p.Gly2351=)
c.7116G>C (p.Gly2372=)
c.7113G>C (p.Gly2371=)
c.7059G>C (p.Gly2353=)
c.7029G>C (p.Gly2343=)
c.6984G>C (p.Gly2328=)
c.6579G>C (p.Gly2193=)
c.5937G>C (p.Gly1979=)
c.3447G>C (p.Gly1149=)
10g.71798448G=CA1918878446CDH23c.6924G= (p.Gly2308=)
c.857G= (n.857G=)
c.521G= (n.521G=)
c.6939G= (p.Gly2313=)
c.204G= (p.Gly68=)
n.460G=
c.7119G= (p.Gly2373=)
c.7053G= (p.Gly2351=)
c.7116G= (p.Gly2372=)
c.7113G= (p.Gly2371=)
c.7059G= (p.Gly2353=)
c.7029G= (p.Gly2343=)
c.6984G= (p.Gly2328=)
c.6579G= (p.Gly2193=)
c.5937G= (p.Gly1979=)
c.3447G= (p.Gly1149=)
10g.71798448G>TCA5546222CDH23c.6924G>T (p.Gly2308=)
c.857G>T (n.857G>T)
c.521G>T (n.521G>T)
c.6939G>T (p.Gly2313=)
c.204G>T (p.Gly68=)
n.460G>T
c.7119G>T (p.Gly2373=)
c.7053G>T (p.Gly2351=)
c.7116G>T (p.Gly2372=)
c.7113G>T (p.Gly2371=)
c.7059G>T (p.Gly2353=)
c.7029G>T (p.Gly2343=)
c.6984G>T (p.Gly2328=)
c.6579G>T (p.Gly2193=)
c.5937G>T (p.Gly1979=)
c.3447G>T (p.Gly1149=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798449G>ACA377157947CDH23c.6925G>A (p.Ala2309Thr)
c.858G>A (n.858G>A)
c.522G>A (n.522G>A)
c.6940G>A (p.Ala2314Thr)
c.205G>A (p.Ala69Thr)
n.461G>A
c.7120G>A (p.Ala2374Thr)
c.7054G>A (p.Ala2352Thr)
c.7117G>A (p.Ala2373Thr)
c.7114G>A (p.Ala2372Thr)
c.7060G>A (p.Ala2354Thr)
c.7030G>A (p.Ala2344Thr)
c.6985G>A (p.Ala2329Thr)
c.6580G>A (p.Ala2194Thr)
c.5938G>A (p.Ala1980Thr)
c.3448G>A (p.Ala1150Thr)
 dbSNP
10g.71798449G>CCA377157949CDH23c.6925G>C (p.Ala2309Pro)
c.858G>C (n.858G>C)
c.522G>C (n.522G>C)
c.6940G>C (p.Ala2314Pro)
c.205G>C (p.Ala69Pro)
n.461G>C
c.7120G>C (p.Ala2374Pro)
c.7054G>C (p.Ala2352Pro)
c.7117G>C (p.Ala2373Pro)
c.7114G>C (p.Ala2372Pro)
c.7060G>C (p.Ala2354Pro)
c.7030G>C (p.Ala2344Pro)
c.6985G>C (p.Ala2329Pro)
c.6580G>C (p.Ala2194Pro)
c.5938G>C (p.Ala1980Pro)
c.3448G>C (p.Ala1150Pro)
10g.71798449G=CA1918878447CDH23c.6925G= (p.Ala2309=)
c.858G= (n.858G=)
c.522G= (n.522G=)
c.6940G= (p.Ala2314=)
c.205G= (p.Ala69=)
n.461G=
c.7120G= (p.Ala2374=)
c.7054G= (p.Ala2352=)
c.7117G= (p.Ala2373=)
c.7114G= (p.Ala2372=)
c.7060G= (p.Ala2354=)
c.7030G= (p.Ala2344=)
c.6985G= (p.Ala2329=)
c.6580G= (p.Ala2194=)
c.5938G= (p.Ala1980=)
c.3448G= (p.Ala1150=)
10g.71798449G>TCA377157951CDH23c.6925G>T (p.Ala2309Ser)
c.858G>T (n.858G>T)
c.522G>T (n.522G>T)
c.6940G>T (p.Ala2314Ser)
c.205G>T (p.Ala69Ser)
n.461G>T
c.7120G>T (p.Ala2374Ser)
c.7054G>T (p.Ala2352Ser)
c.7117G>T (p.Ala2373Ser)
c.7114G>T (p.Ala2372Ser)
c.7060G>T (p.Ala2354Ser)
c.7030G>T (p.Ala2344Ser)
c.6985G>T (p.Ala2329Ser)
c.6580G>T (p.Ala2194Ser)
c.5938G>T (p.Ala1980Ser)
c.3448G>T (p.Ala1150Ser)
10g.71798450C>ACA377157953CDH23c.6926C>A (p.Ala2309Asp)
c.859C>A (n.859C>A)
c.523C>A (n.523C>A)
c.6941C>A (p.Ala2314Asp)
c.206C>A (p.Ala69Asp)
n.462C>A
c.7121C>A (p.Ala2374Asp)
c.7055C>A (p.Ala2352Asp)
c.7118C>A (p.Ala2373Asp)
c.7115C>A (p.Ala2372Asp)
c.7061C>A (p.Ala2354Asp)
c.7031C>A (p.Ala2344Asp)
c.6986C>A (p.Ala2329Asp)
c.6581C>A (p.Ala2194Asp)
c.5939C>A (p.Ala1980Asp)
c.3449C>A (p.Ala1150Asp)
 dbSNP gnomAD v3 gnomAD v4
10g.71798450C=CA1918878448CDH23c.6926C= (p.Ala2309=)
c.859C= (n.859C=)
c.523C= (n.523C=)
c.6941C= (p.Ala2314=)
c.206C= (p.Ala69=)
n.462C=
c.7121C= (p.Ala2374=)
c.7055C= (p.Ala2352=)
c.7118C= (p.Ala2373=)
c.7115C= (p.Ala2372=)
c.7061C= (p.Ala2354=)
c.7031C= (p.Ala2344=)
c.6986C= (p.Ala2329=)
c.6581C= (p.Ala2194=)
c.5939C= (p.Ala1980=)
c.3449C= (p.Ala1150=)
10g.71798450C>GCA377157954CDH23c.6926C>G (p.Ala2309Gly)
c.859C>G (n.859C>G)
c.523C>G (n.523C>G)
c.6941C>G (p.Ala2314Gly)
c.206C>G (p.Ala69Gly)
n.462C>G
c.7121C>G (p.Ala2374Gly)
c.7055C>G (p.Ala2352Gly)
c.7118C>G (p.Ala2373Gly)
c.7115C>G (p.Ala2372Gly)
c.7061C>G (p.Ala2354Gly)
c.7031C>G (p.Ala2344Gly)
c.6986C>G (p.Ala2329Gly)
c.6581C>G (p.Ala2194Gly)
c.5939C>G (p.Ala1980Gly)
c.3449C>G (p.Ala1150Gly)
 dbSNP
10g.71798450C>TCA377157955CDH23c.6926C>T (p.Ala2309Val)
c.859C>T (n.859C>T)
c.523C>T (n.523C>T)
c.6941C>T (p.Ala2314Val)
c.206C>T (p.Ala69Val)
n.462C>T
c.7121C>T (p.Ala2374Val)
c.7055C>T (p.Ala2352Val)
c.7118C>T (p.Ala2373Val)
c.7115C>T (p.Ala2372Val)
c.7061C>T (p.Ala2354Val)
c.7031C>T (p.Ala2344Val)
c.6986C>T (p.Ala2329Val)
c.6581C>T (p.Ala2194Val)
c.5939C>T (p.Ala1980Val)
c.3449C>T (p.Ala1150Val)
 dbSNP
10g.71798451C>ACA5546223CDH23c.6927C>A (p.Ala2309=)
c.860C>A (n.860C>A)
c.524C>A (n.524C>A)
c.6942C>A (p.Ala2314=)
c.207C>A (p.Ala69=)
n.463C>A
c.7122C>A (p.Ala2374=)
c.7056C>A (p.Ala2352=)
c.7119C>A (p.Ala2373=)
c.7116C>A (p.Ala2372=)
c.7062C>A (p.Ala2354=)
c.7032C>A (p.Ala2344=)
c.6987C>A (p.Ala2329=)
c.6582C>A (p.Ala2194=)
c.5940C>A (p.Ala1980=)
c.3450C>A (p.Ala1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798451C=CA1918878449CDH23c.6927C= (p.Ala2309=)
c.860C= (n.860C=)
c.524C= (n.524C=)
c.6942C= (p.Ala2314=)
c.207C= (p.Ala69=)
n.463C=
c.7122C= (p.Ala2374=)
c.7056C= (p.Ala2352=)
c.7119C= (p.Ala2373=)
c.7116C= (p.Ala2372=)
c.7062C= (p.Ala2354=)
c.7032C= (p.Ala2344=)
c.6987C= (p.Ala2329=)
c.6582C= (p.Ala2194=)
c.5940C= (p.Ala1980=)
c.3450C= (p.Ala1150=)
10g.71798451C>GCA470062022CDH23c.6927C>G (p.Ala2309=)
c.860C>G (n.860C>G)
c.524C>G (n.524C>G)
c.6942C>G (p.Ala2314=)
c.207C>G (p.Ala69=)
n.463C>G
c.7122C>G (p.Ala2374=)
c.7056C>G (p.Ala2352=)
c.7119C>G (p.Ala2373=)
c.7116C>G (p.Ala2372=)
c.7062C>G (p.Ala2354=)
c.7032C>G (p.Ala2344=)
c.6987C>G (p.Ala2329=)
c.6582C>G (p.Ala2194=)
c.5940C>G (p.Ala1980=)
c.3450C>G (p.Ala1150=)
10g.71798451C>TCA5546224CDH23c.6927C>T (p.Ala2309=)
c.860C>T (n.860C>T)
c.524C>T (n.524C>T)
c.6942C>T (p.Ala2314=)
c.207C>T (p.Ala69=)
n.463C>T
c.7122C>T (p.Ala2374=)
c.7056C>T (p.Ala2352=)
c.7119C>T (p.Ala2373=)
c.7116C>T (p.Ala2372=)
c.7062C>T (p.Ala2354=)
c.7032C>T (p.Ala2344=)
c.6987C>T (p.Ala2329=)
c.6582C>T (p.Ala2194=)
c.5940C>T (p.Ala1980=)
c.3450C>T (p.Ala1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798452A=CA1918878450CDH23c.6928A= (p.Thr2310=)
c.861A= (n.861A=)
c.525A= (n.525A=)
c.6943A= (p.Thr2315=)
c.208A= (p.Thr70=)
n.464A=
c.7123A= (p.Thr2375=)
c.7057A= (p.Thr2353=)
c.7120A= (p.Thr2374=)
c.7117A= (p.Thr2373=)
c.7063A= (p.Thr2355=)
c.7033A= (p.Thr2345=)
c.6988A= (p.Thr2330=)
c.6583A= (p.Thr2195=)
c.5941A= (p.Thr1981=)
c.3451A= (p.Thr1151=)
10g.71798452A>CCA377157959CDH23c.6928A>C (p.Thr2310Pro)
c.861A>C (n.861A>C)
c.525A>C (n.525A>C)
c.6943A>C (p.Thr2315Pro)
c.208A>C (p.Thr70Pro)
n.464A>C
c.7123A>C (p.Thr2375Pro)
c.7057A>C (p.Thr2353Pro)
c.7120A>C (p.Thr2374Pro)
c.7117A>C (p.Thr2373Pro)
c.7063A>C (p.Thr2355Pro)
c.7033A>C (p.Thr2345Pro)
c.6988A>C (p.Thr2330Pro)
c.6583A>C (p.Thr2195Pro)
c.5941A>C (p.Thr1981Pro)
c.3451A>C (p.Thr1151Pro)
 dbSNP
10g.71798452A>GCA377157960CDH23c.6928A>G (p.Thr2310Ala)
c.861A>G (n.861A>G)
c.525A>G (n.525A>G)
c.6943A>G (p.Thr2315Ala)
c.208A>G (p.Thr70Ala)
n.464A>G
c.7123A>G (p.Thr2375Ala)
c.7057A>G (p.Thr2353Ala)
c.7120A>G (p.Thr2374Ala)
c.7117A>G (p.Thr2373Ala)
c.7063A>G (p.Thr2355Ala)
c.7033A>G (p.Thr2345Ala)
c.6988A>G (p.Thr2330Ala)
c.6583A>G (p.Thr2195Ala)
c.5941A>G (p.Thr1981Ala)
c.3451A>G (p.Thr1151Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798452A>TCA377157962CDH23c.6928A>T (p.Thr2310Ser)
c.861A>T (n.861A>T)
c.525A>T (n.525A>T)
c.6943A>T (p.Thr2315Ser)
c.208A>T (p.Thr70Ser)
n.464A>T
c.7123A>T (p.Thr2375Ser)
c.7057A>T (p.Thr2353Ser)
c.7120A>T (p.Thr2374Ser)
c.7117A>T (p.Thr2373Ser)
c.7063A>T (p.Thr2355Ser)
c.7033A>T (p.Thr2345Ser)
c.6988A>T (p.Thr2330Ser)
c.6583A>T (p.Thr2195Ser)
c.5941A>T (p.Thr1981Ser)
c.3451A>T (p.Thr1151Ser)
 dbSNP
10g.71798453C>ACA377157964CDH23c.6929C>A (p.Thr2310Asn)
c.862C>A (n.862C>A)
c.526C>A (n.526C>A)
c.6944C>A (p.Thr2315Asn)
c.209C>A (p.Thr70Asn)
n.465C>A
c.7124C>A (p.Thr2375Asn)
c.7058C>A (p.Thr2353Asn)
c.7121C>A (p.Thr2374Asn)
c.7118C>A (p.Thr2373Asn)
c.7064C>A (p.Thr2355Asn)
c.7034C>A (p.Thr2345Asn)
c.6989C>A (p.Thr2330Asn)
c.6584C>A (p.Thr2195Asn)
c.5942C>A (p.Thr1981Asn)
c.3452C>A (p.Thr1151Asn)
 gnomAD v4
10g.71798453C=CA1918878451CDH23c.6929C= (p.Thr2310=)
c.862C= (n.862C=)
c.526C= (n.526C=)
c.6944C= (p.Thr2315=)
c.209C= (p.Thr70=)
n.465C=
c.7124C= (p.Thr2375=)
c.7058C= (p.Thr2353=)
c.7121C= (p.Thr2374=)
c.7118C= (p.Thr2373=)
c.7064C= (p.Thr2355=)
c.7034C= (p.Thr2345=)
c.6989C= (p.Thr2330=)
c.6584C= (p.Thr2195=)
c.5942C= (p.Thr1981=)
c.3452C= (p.Thr1151=)
10g.71798453C>GCA377157965CDH23c.6929C>G (p.Thr2310Ser)
c.862C>G (n.862C>G)
c.526C>G (n.526C>G)
c.6944C>G (p.Thr2315Ser)
c.209C>G (p.Thr70Ser)
n.465C>G
c.7124C>G (p.Thr2375Ser)
c.7058C>G (p.Thr2353Ser)
c.7121C>G (p.Thr2374Ser)
c.7118C>G (p.Thr2373Ser)
c.7064C>G (p.Thr2355Ser)
c.7034C>G (p.Thr2345Ser)
c.6989C>G (p.Thr2330Ser)
c.6584C>G (p.Thr2195Ser)
c.5942C>G (p.Thr1981Ser)
c.3452C>G (p.Thr1151Ser)
10g.71798453C>TCA5546225CDH23c.6929C>T (p.Thr2310Ile)
c.862C>T (n.862C>T)
c.526C>T (n.526C>T)
c.6944C>T (p.Thr2315Ile)
c.209C>T (p.Thr70Ile)
n.465C>T
c.7124C>T (p.Thr2375Ile)
c.7058C>T (p.Thr2353Ile)
c.7121C>T (p.Thr2374Ile)
c.7118C>T (p.Thr2373Ile)
c.7064C>T (p.Thr2355Ile)
c.7034C>T (p.Thr2345Ile)
c.6989C>T (p.Thr2330Ile)
c.6584C>T (p.Thr2195Ile)
c.5942C>T (p.Thr1981Ile)
c.3452C>T (p.Thr1151Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798454C>ACA470062025CDH23c.6930C>A (p.Thr2310=)
c.863C>A (n.863C>A)
c.527C>A (n.527C>A)
c.6945C>A (p.Thr2315=)
c.210C>A (p.Thr70=)
n.466C>A
c.7125C>A (p.Thr2375=)
c.7059C>A (p.Thr2353=)
c.7122C>A (p.Thr2374=)
c.7119C>A (p.Thr2373=)
c.7065C>A (p.Thr2355=)
c.7035C>A (p.Thr2345=)
c.6990C>A (p.Thr2330=)
c.6585C>A (p.Thr2195=)
c.5943C>A (p.Thr1981=)
c.3453C>A (p.Thr1151=)
 ClinVar dbSNP gnomAD v4
10g.71798454C>GCA470062027CDH23c.6930C>G (p.Thr2310=)
c.863C>G (n.863C>G)
c.527C>G (n.527C>G)
c.6945C>G (p.Thr2315=)
c.210C>G (p.Thr70=)
n.466C>G
c.7125C>G (p.Thr2375=)
c.7059C>G (p.Thr2353=)
c.7122C>G (p.Thr2374=)
c.7119C>G (p.Thr2373=)
c.7065C>G (p.Thr2355=)
c.7035C>G (p.Thr2345=)
c.6990C>G (p.Thr2330=)
c.6585C>G (p.Thr2195=)
c.5943C>G (p.Thr1981=)
c.3453C>G (p.Thr1151=)
10g.71798454C>TCA470062026CDH23c.6930C>T (p.Thr2310=)
c.863C>T (n.863C>T)
c.527C>T (n.527C>T)
c.6945C>T (p.Thr2315=)
c.210C>T (p.Thr70=)
n.466C>T
c.7125C>T (p.Thr2375=)
c.7059C>T (p.Thr2353=)
c.7122C>T (p.Thr2374=)
c.7119C>T (p.Thr2373=)
c.7065C>T (p.Thr2355=)
c.7035C>T (p.Thr2345=)
c.6990C>T (p.Thr2330=)
c.6585C>T (p.Thr2195=)
c.5943C>T (p.Thr1981=)
c.3453C>T (p.Thr1151=)
10g.71798455C>ACA377157968CDH23c.6931C>A (p.Pro2311Thr)
c.864C>A (n.864C>A)
c.528C>A (n.528C>A)
c.6946C>A (p.Pro2316Thr)
c.211C>A (p.Pro71Thr)
n.467C>A
c.7126C>A (p.Pro2376Thr)
c.7060C>A (p.Pro2354Thr)
c.7123C>A (p.Pro2375Thr)
c.7120C>A (p.Pro2374Thr)
c.7066C>A (p.Pro2356Thr)
c.7036C>A (p.Pro2346Thr)
c.6991C>A (p.Pro2331Thr)
c.6586C>A (p.Pro2196Thr)
c.5944C>A (p.Pro1982Thr)
c.3454C>A (p.Pro1152Thr)
10g.71798455C=CA1918878452CDH23c.6931C= (p.Pro2311=)
c.864C= (n.864C=)
c.528C= (n.528C=)
c.6946C= (p.Pro2316=)
c.211C= (p.Pro71=)
n.467C=
c.7126C= (p.Pro2376=)
c.7060C= (p.Pro2354=)
c.7123C= (p.Pro2375=)
c.7120C= (p.Pro2374=)
c.7066C= (p.Pro2356=)
c.7036C= (p.Pro2346=)
c.6991C= (p.Pro2331=)
c.6586C= (p.Pro2196=)
c.5944C= (p.Pro1982=)
c.3454C= (p.Pro1152=)
10g.71798455C>GCA377157969CDH23c.6931C>G (p.Pro2311Ala)
c.864C>G (n.864C>G)
c.528C>G (n.528C>G)
c.6946C>G (p.Pro2316Ala)
c.211C>G (p.Pro71Ala)
n.467C>G
c.7126C>G (p.Pro2376Ala)
c.7060C>G (p.Pro2354Ala)
c.7123C>G (p.Pro2375Ala)
c.7120C>G (p.Pro2374Ala)
c.7066C>G (p.Pro2356Ala)
c.7036C>G (p.Pro2346Ala)
c.6991C>G (p.Pro2331Ala)
c.6586C>G (p.Pro2196Ala)
c.5944C>G (p.Pro1982Ala)
c.3454C>G (p.Pro1152Ala)
10g.71798455C>TCA377157971CDH23c.6931C>T (p.Pro2311Ser)
c.864C>T (n.864C>T)
c.528C>T (n.528C>T)
c.6946C>T (p.Pro2316Ser)
c.211C>T (p.Pro71Ser)
n.467C>T
c.7126C>T (p.Pro2376Ser)
c.7060C>T (p.Pro2354Ser)
c.7123C>T (p.Pro2375Ser)
c.7120C>T (p.Pro2374Ser)
c.7066C>T (p.Pro2356Ser)
c.7036C>T (p.Pro2346Ser)
c.6991C>T (p.Pro2331Ser)
c.6586C>T (p.Pro2196Ser)
c.5944C>T (p.Pro1982Ser)
c.3454C>T (p.Pro1152Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.71798456C>ACA377157972CDH23c.6932C>A (p.Pro2311His)
c.865C>A (n.865C>A)
c.529C>A (n.529C>A)
c.6947C>A (p.Pro2316His)
c.212C>A (p.Pro71His)
n.468C>A
c.7127C>A (p.Pro2376His)
c.7061C>A (p.Pro2354His)
c.7124C>A (p.Pro2375His)
c.7121C>A (p.Pro2374His)
c.7067C>A (p.Pro2356His)
c.7037C>A (p.Pro2346His)
c.6992C>A (p.Pro2331His)
c.6587C>A (p.Pro2196His)
c.5945C>A (p.Pro1982His)
c.3455C>A (p.Pro1152His)
10g.71798456C=CA1918878453CDH23c.6932C= (p.Pro2311=)
c.865C= (n.865C=)
c.529C= (n.529C=)
c.6947C= (p.Pro2316=)
c.212C= (p.Pro71=)
n.468C=
c.7127C= (p.Pro2376=)
c.7061C= (p.Pro2354=)
c.7124C= (p.Pro2375=)
c.7121C= (p.Pro2374=)
c.7067C= (p.Pro2356=)
c.7037C= (p.Pro2346=)
c.6992C= (p.Pro2331=)
c.6587C= (p.Pro2196=)
c.5945C= (p.Pro1982=)
c.3455C= (p.Pro1152=)
10g.71798456C>GCA5546226CDH23c.6932C>G (p.Pro2311Arg)
c.865C>G (n.865C>G)
c.529C>G (n.529C>G)
c.6947C>G (p.Pro2316Arg)
c.212C>G (p.Pro71Arg)
n.468C>G
c.7127C>G (p.Pro2376Arg)
c.7061C>G (p.Pro2354Arg)
c.7124C>G (p.Pro2375Arg)
c.7121C>G (p.Pro2374Arg)
c.7067C>G (p.Pro2356Arg)
c.7037C>G (p.Pro2346Arg)
c.6992C>G (p.Pro2331Arg)
c.6587C>G (p.Pro2196Arg)
c.5945C>G (p.Pro1982Arg)
c.3455C>G (p.Pro1152Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798456C>TCA377157973CDH23c.6932C>T (p.Pro2311Leu)
c.865C>T (n.865C>T)
c.529C>T (n.529C>T)
c.6947C>T (p.Pro2316Leu)
c.212C>T (p.Pro71Leu)
n.468C>T
c.7127C>T (p.Pro2376Leu)
c.7061C>T (p.Pro2354Leu)
c.7124C>T (p.Pro2375Leu)
c.7121C>T (p.Pro2374Leu)
c.7067C>T (p.Pro2356Leu)
c.7037C>T (p.Pro2346Leu)
c.6992C>T (p.Pro2331Leu)
c.6587C>T (p.Pro2196Leu)
c.5945C>T (p.Pro1982Leu)
c.3455C>T (p.Pro1152Leu)
10g.71798457delCA2573145283CDH23c.6933del (p.Thr2313ProfsTer?)
c.866del (n.866del)
c.530del (n.530del)
c.6948del (p.Thr2318ProfsTer?)
c.213del (p.Thr73ProfsTer?)
n.469del
c.7128del (p.Thr2378ProfsTer?)
c.7062del (p.Thr2356ProfsTer?)
c.7125del (p.Thr2377ProfsTer?)
c.7122del (p.Thr2376ProfsTer?)
c.7068del (p.Thr2358ProfsTer?)
c.7038del (p.Thr2348ProfsTer?)
c.6993del (p.Thr2333ProfsTer?)
c.6588del (p.Thr2198ProfsTer?)
c.5946del (p.Thr1984ProfsTer?)
c.3456del (p.Thr1154ProfsTer?)
 ClinVar dbSNP
10g.71798457T>ACA470062029CDH23c.6933T>A (p.Pro2311=)
c.866T>A (n.866T>A)
c.530T>A (n.530T>A)
c.6948T>A (p.Pro2316=)
c.213T>A (p.Pro71=)
n.469T>A
c.7128T>A (p.Pro2376=)
c.7062T>A (p.Pro2354=)
c.7125T>A (p.Pro2375=)
c.7122T>A (p.Pro2374=)
c.7068T>A (p.Pro2356=)
c.7038T>A (p.Pro2346=)
c.6993T>A (p.Pro2331=)
c.6588T>A (p.Pro2196=)
c.5946T>A (p.Pro1982=)
c.3456T>A (p.Pro1152=)
10g.71798457T>CCA470062031CDH23c.6933T>C (p.Pro2311=)
c.866T>C (n.866T>C)
c.530T>C (n.530T>C)
c.6948T>C (p.Pro2316=)
c.213T>C (p.Pro71=)
n.469T>C
c.7128T>C (p.Pro2376=)
c.7062T>C (p.Pro2354=)
c.7125T>C (p.Pro2375=)
c.7122T>C (p.Pro2374=)
c.7068T>C (p.Pro2356=)
c.7038T>C (p.Pro2346=)
c.6993T>C (p.Pro2331=)
c.6588T>C (p.Pro2196=)
c.5946T>C (p.Pro1982=)
c.3456T>C (p.Pro1152=)
 gnomAD v4
10g.71798457T>GCA470062032CDH23c.6933T>G (p.Pro2311=)
c.866T>G (n.866T>G)
c.530T>G (n.530T>G)
c.6948T>G (p.Pro2316=)
c.213T>G (p.Pro71=)
n.469T>G
c.7128T>G (p.Pro2376=)
c.7062T>G (p.Pro2354=)
c.7125T>G (p.Pro2375=)
c.7122T>G (p.Pro2374=)
c.7068T>G (p.Pro2356=)
c.7038T>G (p.Pro2346=)
c.6993T>G (p.Pro2331=)
c.6588T>G (p.Pro2196=)
c.5946T>G (p.Pro1982=)
c.3456T>G (p.Pro1152=)
10g.71798458G>ACA377157979CDH23c.6934G>A (p.Gly2312Arg)
c.867G>A (n.867G>A)
c.531G>A (n.531G>A)
c.6949G>A (p.Gly2317Arg)
c.214G>A (p.Gly72Arg)
n.470G>A
c.7129G>A (p.Gly2377Arg)
c.7063G>A (p.Gly2355Arg)
c.7126G>A (p.Gly2376Arg)
c.7123G>A (p.Gly2375Arg)
c.7069G>A (p.Gly2357Arg)
c.7039G>A (p.Gly2347Arg)
c.6994G>A (p.Gly2332Arg)
c.6589G>A (p.Gly2197Arg)
c.5947G>A (p.Gly1983Arg)
c.3457G>A (p.Gly1153Arg)
10g.71798458G>CCA377157977CDH23c.6934G>C (p.Gly2312Arg)
c.867G>C (n.867G>C)
c.531G>C (n.531G>C)
c.6949G>C (p.Gly2317Arg)
c.214G>C (p.Gly72Arg)
n.470G>C
c.7129G>C (p.Gly2377Arg)
c.7063G>C (p.Gly2355Arg)
c.7126G>C (p.Gly2376Arg)
c.7123G>C (p.Gly2375Arg)
c.7069G>C (p.Gly2357Arg)
c.7039G>C (p.Gly2347Arg)
c.6994G>C (p.Gly2332Arg)
c.6589G>C (p.Gly2197Arg)
c.5947G>C (p.Gly1983Arg)
c.3457G>C (p.Gly1153Arg)
10g.71798458G>TCA377157975CDH23c.6934G>T (p.Gly2312Trp)
c.867G>T (n.867G>T)
c.531G>T (n.531G>T)
c.6949G>T (p.Gly2317Trp)
c.214G>T (p.Gly72Trp)
n.470G>T
c.7129G>T (p.Gly2377Trp)
c.7063G>T (p.Gly2355Trp)
c.7126G>T (p.Gly2376Trp)
c.7123G>T (p.Gly2375Trp)
c.7069G>T (p.Gly2357Trp)
c.7039G>T (p.Gly2347Trp)
c.6994G>T (p.Gly2332Trp)
c.6589G>T (p.Gly2197Trp)
c.5947G>T (p.Gly1983Trp)
c.3457G>T (p.Gly1153Trp)
 gnomAD v4
10g.71798459G>ACA377157980CDH23c.6935G>A (p.Gly2312Glu)
c.868G>A (n.868G>A)
c.532G>A (n.532G>A)
c.6950G>A (p.Gly2317Glu)
c.215G>A (p.Gly72Glu)
n.471G>A
c.7130G>A (p.Gly2377Glu)
c.7064G>A (p.Gly2355Glu)
c.7127G>A (p.Gly2376Glu)
c.7124G>A (p.Gly2375Glu)
c.7070G>A (p.Gly2357Glu)
c.7040G>A (p.Gly2347Glu)
c.6995G>A (p.Gly2332Glu)
c.6590G>A (p.Gly2197Glu)
c.5948G>A (p.Gly1983Glu)
c.3458G>A (p.Gly1153Glu)
10g.71798459G>CCA377157981CDH23c.6935G>C (p.Gly2312Ala)
c.868G>C (n.868G>C)
c.532G>C (n.532G>C)
c.6950G>C (p.Gly2317Ala)
c.215G>C (p.Gly72Ala)
n.471G>C
c.7130G>C (p.Gly2377Ala)
c.7064G>C (p.Gly2355Ala)
c.7127G>C (p.Gly2376Ala)
c.7124G>C (p.Gly2375Ala)
c.7070G>C (p.Gly2357Ala)
c.7040G>C (p.Gly2347Ala)
c.6995G>C (p.Gly2332Ala)
c.6590G>C (p.Gly2197Ala)
c.5948G>C (p.Gly1983Ala)
c.3458G>C (p.Gly1153Ala)
10g.71798459G>TCA377157983CDH23c.6935G>T (p.Gly2312Val)
c.868G>T (n.868G>T)
c.532G>T (n.532G>T)
c.6950G>T (p.Gly2317Val)
c.215G>T (p.Gly72Val)
n.471G>T
c.7130G>T (p.Gly2377Val)
c.7064G>T (p.Gly2355Val)
c.7127G>T (p.Gly2376Val)
c.7124G>T (p.Gly2375Val)
c.7070G>T (p.Gly2357Val)
c.7040G>T (p.Gly2347Val)
c.6995G>T (p.Gly2332Val)
c.6590G>T (p.Gly2197Val)
c.5948G>T (p.Gly1983Val)
c.3458G>T (p.Gly1153Val)
10g.71798460G>ACA470062033CDH23c.6936G>A (p.Gly2312=)
c.869G>A (n.869G>A)
c.533G>A (n.533G>A)
c.6951G>A (p.Gly2317=)
c.216G>A (p.Gly72=)
n.472G>A
c.7131G>A (p.Gly2377=)
c.7065G>A (p.Gly2355=)
c.7128G>A (p.Gly2376=)
c.7125G>A (p.Gly2375=)
c.7071G>A (p.Gly2357=)
c.7041G>A (p.Gly2347=)
c.6996G>A (p.Gly2332=)
c.6591G>A (p.Gly2197=)
c.5949G>A (p.Gly1983=)
c.3459G>A (p.Gly1153=)
 ClinVar dbSNP gnomAD v4
10g.71798460G>CCA470062034CDH23c.6936G>C (p.Gly2312=)
c.869G>C (n.869G>C)
c.533G>C (n.533G>C)
c.6951G>C (p.Gly2317=)
c.216G>C (p.Gly72=)
n.472G>C
c.7131G>C (p.Gly2377=)
c.7065G>C (p.Gly2355=)
c.7128G>C (p.Gly2376=)
c.7125G>C (p.Gly2375=)
c.7071G>C (p.Gly2357=)
c.7041G>C (p.Gly2347=)
c.6996G>C (p.Gly2332=)
c.6591G>C (p.Gly2197=)
c.5949G>C (p.Gly1983=)
c.3459G>C (p.Gly1153=)
10g.71798460G>TCA470062035CDH23c.6936G>T (p.Gly2312=)
c.869G>T (n.869G>T)
c.533G>T (n.533G>T)
c.6951G>T (p.Gly2317=)
c.216G>T (p.Gly72=)
n.472G>T
c.7131G>T (p.Gly2377=)
c.7065G>T (p.Gly2355=)
c.7128G>T (p.Gly2376=)
c.7125G>T (p.Gly2375=)
c.7071G>T (p.Gly2357=)
c.7041G>T (p.Gly2347=)
c.6996G>T (p.Gly2332=)
c.6591G>T (p.Gly2197=)
c.5949G>T (p.Gly1983=)
c.3459G>T (p.Gly1153=)
 gnomAD v4
10g.71798461A=CA1918878454CDH23c.6937A= (p.Thr2313=)
c.870A= (n.870A=)
c.534A= (n.534A=)
c.6952A= (p.Thr2318=)
c.217A= (p.Thr73=)
n.473A=
c.7132A= (p.Thr2378=)
c.7066A= (p.Thr2356=)
c.7129A= (p.Thr2377=)
c.7126A= (p.Thr2376=)
c.7072A= (p.Thr2358=)
c.7042A= (p.Thr2348=)
c.6997A= (p.Thr2333=)
c.6592A= (p.Thr2198=)
c.5950A= (p.Thr1984=)
c.3460A= (p.Thr1154=)
10g.71798461A>CCA377157985CDH23c.6937A>C (p.Thr2313Pro)
c.870A>C (n.870A>C)
c.534A>C (n.534A>C)
c.6952A>C (p.Thr2318Pro)
c.217A>C (p.Thr73Pro)
n.473A>C
c.7132A>C (p.Thr2378Pro)
c.7066A>C (p.Thr2356Pro)
c.7129A>C (p.Thr2377Pro)
c.7126A>C (p.Thr2376Pro)
c.7072A>C (p.Thr2358Pro)
c.7042A>C (p.Thr2348Pro)
c.6997A>C (p.Thr2333Pro)
c.6592A>C (p.Thr2198Pro)
c.5950A>C (p.Thr1984Pro)
c.3460A>C (p.Thr1154Pro)
10g.71798461A>GCA377157987CDH23c.6937A>G (p.Thr2313Ala)
c.870A>G (n.870A>G)
c.534A>G (n.534A>G)
c.6952A>G (p.Thr2318Ala)
c.217A>G (p.Thr73Ala)
n.473A>G
c.7132A>G (p.Thr2378Ala)
c.7066A>G (p.Thr2356Ala)
c.7129A>G (p.Thr2377Ala)
c.7126A>G (p.Thr2376Ala)
c.7072A>G (p.Thr2358Ala)
c.7042A>G (p.Thr2348Ala)
c.6997A>G (p.Thr2333Ala)
c.6592A>G (p.Thr2198Ala)
c.5950A>G (p.Thr1984Ala)
c.3460A>G (p.Thr1154Ala)
10g.71798461A>TCA377157988CDH23c.6937A>T (p.Thr2313Ser)
c.870A>T (n.870A>T)
c.534A>T (n.534A>T)
c.6952A>T (p.Thr2318Ser)
c.217A>T (p.Thr73Ser)
n.473A>T
c.7132A>T (p.Thr2378Ser)
c.7066A>T (p.Thr2356Ser)
c.7129A>T (p.Thr2377Ser)
c.7126A>T (p.Thr2376Ser)
c.7072A>T (p.Thr2358Ser)
c.7042A>T (p.Thr2348Ser)
c.6997A>T (p.Thr2333Ser)
c.6592A>T (p.Thr2198Ser)
c.5950A>T (p.Thr1984Ser)
c.3460A>T (p.Thr1154Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.71798462C>ACA377157991CDH23c.6938C>A (p.Thr2313Asn)
c.871C>A (n.871C>A)
c.535C>A (n.535C>A)
c.6953C>A (p.Thr2318Asn)
c.218C>A (p.Thr73Asn)
n.474C>A
c.7133C>A (p.Thr2378Asn)
c.7067C>A (p.Thr2356Asn)
c.7130C>A (p.Thr2377Asn)
c.7127C>A (p.Thr2376Asn)
c.7073C>A (p.Thr2358Asn)
c.7043C>A (p.Thr2348Asn)
c.6998C>A (p.Thr2333Asn)
c.6593C>A (p.Thr2198Asn)
c.5951C>A (p.Thr1984Asn)
c.3461C>A (p.Thr1154Asn)
 dbSNP gnomAD v4
10g.71798462C=CA1918878455CDH23c.6938C= (p.Thr2313=)
c.871C= (n.871C=)
c.535C= (n.535C=)
c.6953C= (p.Thr2318=)
c.218C= (p.Thr73=)
n.474C=
c.7133C= (p.Thr2378=)
c.7067C= (p.Thr2356=)
c.7130C= (p.Thr2377=)
c.7127C= (p.Thr2376=)
c.7073C= (p.Thr2358=)
c.7043C= (p.Thr2348=)
c.6998C= (p.Thr2333=)
c.6593C= (p.Thr2198=)
c.5951C= (p.Thr1984=)
c.3461C= (p.Thr1154=)
10g.71798462C>GCA377157992CDH23c.6938C>G (p.Thr2313Ser)
c.871C>G (n.871C>G)
c.535C>G (n.535C>G)
c.6953C>G (p.Thr2318Ser)
c.218C>G (p.Thr73Ser)
n.474C>G
c.7133C>G (p.Thr2378Ser)
c.7067C>G (p.Thr2356Ser)
c.7130C>G (p.Thr2377Ser)
c.7127C>G (p.Thr2376Ser)
c.7073C>G (p.Thr2358Ser)
c.7043C>G (p.Thr2348Ser)
c.6998C>G (p.Thr2333Ser)
c.6593C>G (p.Thr2198Ser)
c.5951C>G (p.Thr1984Ser)
c.3461C>G (p.Thr1154Ser)
10g.71798462C>TCA377157993CDH23c.6938C>T (p.Thr2313Ile)
c.871C>T (n.871C>T)
c.535C>T (n.535C>T)
c.6953C>T (p.Thr2318Ile)
c.218C>T (p.Thr73Ile)
n.474C>T
c.7133C>T (p.Thr2378Ile)
c.7067C>T (p.Thr2356Ile)
c.7130C>T (p.Thr2377Ile)
c.7127C>T (p.Thr2376Ile)
c.7073C>T (p.Thr2358Ile)
c.7043C>T (p.Thr2348Ile)
c.6998C>T (p.Thr2333Ile)
c.6593C>T (p.Thr2198Ile)
c.5951C>T (p.Thr1984Ile)
c.3461C>T (p.Thr1154Ile)
10g.71798463C>ACA470062039CDH23c.6939C>A (p.Thr2313=)
c.872C>A (n.872C>A)
c.536C>A (n.536C>A)
c.6954C>A (p.Thr2318=)
c.219C>A (p.Thr73=)
n.475C>A
c.7134C>A (p.Thr2378=)
c.7068C>A (p.Thr2356=)
c.7131C>A (p.Thr2377=)
c.7128C>A (p.Thr2376=)
c.7074C>A (p.Thr2358=)
c.7044C>A (p.Thr2348=)
c.6999C>A (p.Thr2333=)
c.6594C>A (p.Thr2198=)
c.5952C>A (p.Thr1984=)
c.3462C>A (p.Thr1154=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798463C=CA1918878456CDH23c.6939C= (p.Thr2313=)
c.872C= (n.872C=)
c.536C= (n.536C=)
c.6954C= (p.Thr2318=)
c.219C= (p.Thr73=)
n.475C=
c.7134C= (p.Thr2378=)
c.7068C= (p.Thr2356=)
c.7131C= (p.Thr2377=)
c.7128C= (p.Thr2376=)
c.7074C= (p.Thr2358=)
c.7044C= (p.Thr2348=)
c.6999C= (p.Thr2333=)
c.6594C= (p.Thr2198=)
c.5952C= (p.Thr1984=)
c.3462C= (p.Thr1154=)
10g.71798463C>GCA470062040CDH23c.6939C>G (p.Thr2313=)
c.872C>G (n.872C>G)
c.536C>G (n.536C>G)
c.6954C>G (p.Thr2318=)
c.219C>G (p.Thr73=)
n.475C>G
c.7134C>G (p.Thr2378=)
c.7068C>G (p.Thr2356=)
c.7131C>G (p.Thr2377=)
c.7128C>G (p.Thr2376=)
c.7074C>G (p.Thr2358=)
c.7044C>G (p.Thr2348=)
c.6999C>G (p.Thr2333=)
c.6594C>G (p.Thr2198=)
c.5952C>G (p.Thr1984=)
c.3462C>G (p.Thr1154=)
10g.71798463C>TCA470062041CDH23c.6939C>T (p.Thr2313=)
c.872C>T (n.872C>T)
c.536C>T (n.536C>T)
c.6954C>T (p.Thr2318=)
c.219C>T (p.Thr73=)
n.475C>T
c.7134C>T (p.Thr2378=)
c.7068C>T (p.Thr2356=)
c.7131C>T (p.Thr2377=)
c.7128C>T (p.Thr2376=)
c.7074C>T (p.Thr2358=)
c.7044C>T (p.Thr2348=)
c.6999C>T (p.Thr2333=)
c.6594C>T (p.Thr2198=)
c.5952C>T (p.Thr1984=)
c.3462C>T (p.Thr1154=)
10g.71798464A>CCA377157995CDH23c.6940A>C (p.Thr2314Pro)
c.873A>C (n.873A>C)
c.537A>C (n.537A>C)
c.6955A>C (p.Thr2319Pro)
c.220A>C (p.Thr74Pro)
n.476A>C
c.7135A>C (p.Thr2379Pro)
c.7069A>C (p.Thr2357Pro)
c.7132A>C (p.Thr2378Pro)
c.7129A>C (p.Thr2377Pro)
c.7075A>C (p.Thr2359Pro)
c.7045A>C (p.Thr2349Pro)
c.7000A>C (p.Thr2334Pro)
c.6595A>C (p.Thr2199Pro)
c.5953A>C (p.Thr1985Pro)
c.3463A>C (p.Thr1155Pro)
10g.71798464A>GCA377157996CDH23c.6940A>G (p.Thr2314Ala)
c.873A>G (n.873A>G)
c.537A>G (n.537A>G)
c.6955A>G (p.Thr2319Ala)
c.220A>G (p.Thr74Ala)
n.476A>G
c.7135A>G (p.Thr2379Ala)
c.7069A>G (p.Thr2357Ala)
c.7132A>G (p.Thr2378Ala)
c.7129A>G (p.Thr2377Ala)
c.7075A>G (p.Thr2359Ala)
c.7045A>G (p.Thr2349Ala)
c.7000A>G (p.Thr2334Ala)
c.6595A>G (p.Thr2199Ala)
c.5953A>G (p.Thr1985Ala)
c.3463A>G (p.Thr1155Ala)
10g.71798464A>TCA377157998CDH23c.6940A>T (p.Thr2314Ser)
c.873A>T (n.873A>T)
c.537A>T (n.537A>T)
c.6955A>T (p.Thr2319Ser)
c.220A>T (p.Thr74Ser)
n.476A>T
c.7135A>T (p.Thr2379Ser)
c.7069A>T (p.Thr2357Ser)
c.7132A>T (p.Thr2378Ser)
c.7129A>T (p.Thr2377Ser)
c.7075A>T (p.Thr2359Ser)
c.7045A>T (p.Thr2349Ser)
c.7000A>T (p.Thr2334Ser)
c.6595A>T (p.Thr2199Ser)
c.5953A>T (p.Thr1985Ser)
c.3463A>T (p.Thr1155Ser)
10g.71798465delCA2574455491CDH23c.6941del (p.Thr2314AsnfsTer?)
c.874del (n.874del)
c.538del (n.538del)
c.6956del (p.Thr2319AsnfsTer?)
c.221del (p.Thr74AsnfsTer?)
n.477del
c.7136del (p.Thr2379AsnfsTer?)
c.7070del (p.Thr2357AsnfsTer?)
c.7133del (p.Thr2378AsnfsTer?)
c.7130del (p.Thr2377AsnfsTer?)
c.7076del (p.Thr2359AsnfsTer?)
c.7046del (p.Thr2349AsnfsTer?)
c.7001del (p.Thr2334AsnfsTer?)
c.6596del (p.Thr2199AsnfsTer?)
c.5954del (p.Thr1985AsnfsTer?)
c.3464del (p.Thr1155AsnfsTer?)
10g.71798465C>ACA377158000CDH23c.6941C>A (p.Thr2314Lys)
c.874C>A (n.874C>A)
c.538C>A (n.538C>A)
c.6956C>A (p.Thr2319Lys)
c.221C>A (p.Thr74Lys)
n.477C>A
c.7136C>A (p.Thr2379Lys)
c.7070C>A (p.Thr2357Lys)
c.7133C>A (p.Thr2378Lys)
c.7130C>A (p.Thr2377Lys)
c.7076C>A (p.Thr2359Lys)
c.7046C>A (p.Thr2349Lys)
c.7001C>A (p.Thr2334Lys)
c.6596C>A (p.Thr2199Lys)
c.5954C>A (p.Thr1985Lys)
c.3464C>A (p.Thr1155Lys)
 dbSNP
10g.71798465C>GCA377158002CDH23c.6941C>G (p.Thr2314Arg)
c.874C>G (n.874C>G)
c.538C>G (n.538C>G)
c.6956C>G (p.Thr2319Arg)
c.221C>G (p.Thr74Arg)
n.477C>G
c.7136C>G (p.Thr2379Arg)
c.7070C>G (p.Thr2357Arg)
c.7133C>G (p.Thr2378Arg)
c.7130C>G (p.Thr2377Arg)
c.7076C>G (p.Thr2359Arg)
c.7046C>G (p.Thr2349Arg)
c.7001C>G (p.Thr2334Arg)
c.6596C>G (p.Thr2199Arg)
c.5954C>G (p.Thr1985Arg)
c.3464C>G (p.Thr1155Arg)
10g.71798465C>TCA377157999CDH23c.6941C>T (p.Thr2314Ile)
c.874C>T (n.874C>T)
c.538C>T (n.538C>T)
c.6956C>T (p.Thr2319Ile)
c.221C>T (p.Thr74Ile)
n.477C>T
c.7136C>T (p.Thr2379Ile)
c.7070C>T (p.Thr2357Ile)
c.7133C>T (p.Thr2378Ile)
c.7130C>T (p.Thr2377Ile)
c.7076C>T (p.Thr2359Ile)
c.7046C>T (p.Thr2349Ile)
c.7001C>T (p.Thr2334Ile)
c.6596C>T (p.Thr2199Ile)
c.5954C>T (p.Thr1985Ile)
c.3464C>T (p.Thr1155Ile)
10g.71798466delCA2580081845CDH23c.6942del (p.Leu2315SerfsTer?)
c.875del (n.875del)
c.539del (n.539del)
c.6957del (p.Leu2320SerfsTer?)
c.222del (p.Leu75SerfsTer?)
n.478del
c.7137del (p.Leu2380SerfsTer?)
c.7071del (p.Leu2358SerfsTer?)
c.7134del (p.Leu2379SerfsTer?)
c.7131del (p.Leu2378SerfsTer?)
c.7077del (p.Leu2360SerfsTer?)
c.7047del (p.Leu2350SerfsTer?)
c.7002del (p.Leu2335SerfsTer?)
c.6597del (p.Leu2200SerfsTer?)
c.5955del (p.Leu1986SerfsTer?)
c.3465del (p.Leu1156SerfsTer?)
 ClinVar gnomAD v4
10g.71798466A>CCA470062043CDH23c.6942A>C (p.Thr2314=)
c.875A>C (n.875A>C)
c.539A>C (n.539A>C)
c.6957A>C (p.Thr2319=)
c.222A>C (p.Thr74=)
n.478A>C
c.7137A>C (p.Thr2379=)
c.7071A>C (p.Thr2357=)
c.7134A>C (p.Thr2378=)
c.7131A>C (p.Thr2377=)
c.7077A>C (p.Thr2359=)
c.7047A>C (p.Thr2349=)
c.7002A>C (p.Thr2334=)
c.6597A>C (p.Thr2199=)
c.5955A>C (p.Thr1985=)
c.3465A>C (p.Thr1155=)
10g.71798466A>GCA470062044CDH23c.6942A>G (p.Thr2314=)
c.875A>G (n.875A>G)
c.539A>G (n.539A>G)
c.6957A>G (p.Thr2319=)
c.222A>G (p.Thr74=)
n.478A>G
c.7137A>G (p.Thr2379=)
c.7071A>G (p.Thr2357=)
c.7134A>G (p.Thr2378=)
c.7131A>G (p.Thr2377=)
c.7077A>G (p.Thr2359=)
c.7047A>G (p.Thr2349=)
c.7002A>G (p.Thr2334=)
c.6597A>G (p.Thr2199=)
c.5955A>G (p.Thr1985=)
c.3465A>G (p.Thr1155=)
10g.71798466A>TCA470062045CDH23c.6942A>T (p.Thr2314=)
c.875A>T (n.875A>T)
c.539A>T (n.539A>T)
c.6957A>T (p.Thr2319=)
c.222A>T (p.Thr74=)
n.478A>T
c.7137A>T (p.Thr2379=)
c.7071A>T (p.Thr2357=)
c.7134A>T (p.Thr2378=)
c.7131A>T (p.Thr2377=)
c.7077A>T (p.Thr2359=)
c.7047A>T (p.Thr2349=)
c.7002A>T (p.Thr2334=)
c.6597A>T (p.Thr2199=)
c.5955A>T (p.Thr1985=)
c.3465A>T (p.Thr1155=)
 gnomAD v4
10g.71798467C>ACA377158003CDH23c.6943C>A (p.Leu2315Ile)
c.876C>A (n.876C>A)
c.540C>A (n.540C>A)
c.6958C>A (p.Leu2320Ile)
c.223C>A (p.Leu75Ile)
n.479C>A
c.7138C>A (p.Leu2380Ile)
c.7072C>A (p.Leu2358Ile)
c.7135C>A (p.Leu2379Ile)
c.7132C>A (p.Leu2378Ile)
c.7078C>A (p.Leu2360Ile)
c.7048C>A (p.Leu2350Ile)
c.7003C>A (p.Leu2335Ile)
c.6598C>A (p.Leu2200Ile)
c.5956C>A (p.Leu1986Ile)
c.3466C>A (p.Leu1156Ile)
10g.71798467C>GCA377158005CDH23c.6943C>G (p.Leu2315Val)
c.876C>G (n.876C>G)
c.540C>G (n.540C>G)
c.6958C>G (p.Leu2320Val)
c.223C>G (p.Leu75Val)
n.479C>G
c.7138C>G (p.Leu2380Val)
c.7072C>G (p.Leu2358Val)
c.7135C>G (p.Leu2379Val)
c.7132C>G (p.Leu2378Val)
c.7078C>G (p.Leu2360Val)
c.7048C>G (p.Leu2350Val)
c.7003C>G (p.Leu2335Val)
c.6598C>G (p.Leu2200Val)
c.5956C>G (p.Leu1986Val)
c.3466C>G (p.Leu1156Val)
10g.71798467C>TCA377158006CDH23c.6943C>T (p.Leu2315Phe)
c.876C>T (n.876C>T)
c.540C>T (n.540C>T)
c.6958C>T (p.Leu2320Phe)
c.223C>T (p.Leu75Phe)
n.479C>T
c.7138C>T (p.Leu2380Phe)
c.7072C>T (p.Leu2358Phe)
c.7135C>T (p.Leu2379Phe)
c.7132C>T (p.Leu2378Phe)
c.7078C>T (p.Leu2360Phe)
c.7048C>T (p.Leu2350Phe)
c.7003C>T (p.Leu2335Phe)
c.6598C>T (p.Leu2200Phe)
c.5956C>T (p.Leu1986Phe)
c.3466C>T (p.Leu1156Phe)
10g.71798468_71798469delCA2695199540CDH23c.6944_6945del (p.Leu2315HisfsTer9)
c.877_878del (n.877_878del)
c.541_542del (n.541_542del)
c.6959_6960del (p.Leu2320HisfsTer9)
c.224_225del (p.Leu75HisfsTer9)
n.480_481del
c.7139_7140del (p.Leu2380HisfsTer9)
c.7073_7074del (p.Leu2358HisfsTer9)
c.7136_7137del (p.Leu2379HisfsTer9)
c.7133_7134del (p.Leu2378HisfsTer9)
c.7079_7080del (p.Leu2360HisfsTer9)
c.7049_7050del (p.Leu2350HisfsTer9)
c.7004_7005del (p.Leu2335HisfsTer9)
c.6599_6600del (p.Leu2200HisfsTer9)
c.5957_5958del (p.Leu1986HisfsTer9)
c.3467_3468del (p.Leu1156HisfsTer9)
 ClinVar
10g.71798468T>ACA377158008CDH23c.6944T>A (p.Leu2315His)
c.877T>A (n.877T>A)
c.541T>A (n.541T>A)
c.6959T>A (p.Leu2320His)
c.224T>A (p.Leu75His)
n.480T>A
c.7139T>A (p.Leu2380His)
c.7073T>A (p.Leu2358His)
c.7136T>A (p.Leu2379His)
c.7133T>A (p.Leu2378His)
c.7079T>A (p.Leu2360His)
c.7049T>A (p.Leu2350His)
c.7004T>A (p.Leu2335His)
c.6599T>A (p.Leu2200His)
c.5957T>A (p.Leu1986His)
c.3467T>A (p.Leu1156His)
10g.71798468T>CCA377158009CDH23c.6944T>C (p.Leu2315Pro)
c.877T>C (n.877T>C)
c.541T>C (n.541T>C)
c.6959T>C (p.Leu2320Pro)
c.224T>C (p.Leu75Pro)
n.480T>C
c.7139T>C (p.Leu2380Pro)
c.7073T>C (p.Leu2358Pro)
c.7136T>C (p.Leu2379Pro)
c.7133T>C (p.Leu2378Pro)
c.7079T>C (p.Leu2360Pro)
c.7049T>C (p.Leu2350Pro)
c.7004T>C (p.Leu2335Pro)
c.6599T>C (p.Leu2200Pro)
c.5957T>C (p.Leu1986Pro)
c.3467T>C (p.Leu1156Pro)
10g.71798468T>GCA377158011CDH23c.6944T>G (p.Leu2315Arg)
c.877T>G (n.877T>G)
c.541T>G (n.541T>G)
c.6959T>G (p.Leu2320Arg)
c.224T>G (p.Leu75Arg)
n.480T>G
c.7139T>G (p.Leu2380Arg)
c.7073T>G (p.Leu2358Arg)
c.7136T>G (p.Leu2379Arg)
c.7133T>G (p.Leu2378Arg)
c.7079T>G (p.Leu2360Arg)
c.7049T>G (p.Leu2350Arg)
c.7004T>G (p.Leu2335Arg)
c.6599T>G (p.Leu2200Arg)
c.5957T>G (p.Leu1986Arg)
c.3467T>G (p.Leu1156Arg)
10g.71798469C>ACA470062046CDH23c.6945C>A (p.Leu2315=)
c.878C>A (n.878C>A)
c.542C>A (n.542C>A)
c.6960C>A (p.Leu2320=)
c.225C>A (p.Leu75=)
n.481C>A
c.7140C>A (p.Leu2380=)
c.7074C>A (p.Leu2358=)
c.7137C>A (p.Leu2379=)
c.7134C>A (p.Leu2378=)
c.7080C>A (p.Leu2360=)
c.7050C>A (p.Leu2350=)
c.7005C>A (p.Leu2335=)
c.6600C>A (p.Leu2200=)
c.5958C>A (p.Leu1986=)
c.3468C>A (p.Leu1156=)
10g.71798469C=CA1918878457CDH23c.6945C= (p.Leu2315=)
c.878C= (n.878C=)
c.542C= (n.542C=)
c.6960C= (p.Leu2320=)
c.225C= (p.Leu75=)
n.481C=
c.7140C= (p.Leu2380=)
c.7074C= (p.Leu2358=)
c.7137C= (p.Leu2379=)
c.7134C= (p.Leu2378=)
c.7080C= (p.Leu2360=)
c.7050C= (p.Leu2350=)
c.7005C= (p.Leu2335=)
c.6600C= (p.Leu2200=)
c.5958C= (p.Leu1986=)
c.3468C= (p.Leu1156=)
10g.71798469C>GCA470062048CDH23c.6945C>G (p.Leu2315=)
c.878C>G (n.878C>G)
c.542C>G (n.542C>G)
c.6960C>G (p.Leu2320=)
c.225C>G (p.Leu75=)
n.481C>G
c.7140C>G (p.Leu2380=)
c.7074C>G (p.Leu2358=)
c.7137C>G (p.Leu2379=)
c.7134C>G (p.Leu2378=)
c.7080C>G (p.Leu2360=)
c.7050C>G (p.Leu2350=)
c.7005C>G (p.Leu2335=)
c.6600C>G (p.Leu2200=)
c.5958C>G (p.Leu1986=)
c.3468C>G (p.Leu1156=)
 ClinVar dbSNP
10g.71798469C>TCA470062047CDH23c.6945C>T (p.Leu2315=)
c.878C>T (n.878C>T)
c.542C>T (n.542C>T)
c.6960C>T (p.Leu2320=)
c.225C>T (p.Leu75=)
n.481C>T
c.7140C>T (p.Leu2380=)
c.7074C>T (p.Leu2358=)
c.7137C>T (p.Leu2379=)
c.7134C>T (p.Leu2378=)
c.7080C>T (p.Leu2360=)
c.7050C>T (p.Leu2350=)
c.7005C>T (p.Leu2335=)
c.6600C>T (p.Leu2200=)
c.5958C>T (p.Leu1986=)
c.3468C>T (p.Leu1156=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798470A>CCA377158013CDH23c.6946A>C (p.Ile2316Leu)
c.879A>C (n.879A>C)
c.543A>C (n.543A>C)
c.6961A>C (p.Ile2321Leu)
c.226A>C (p.Ile76Leu)
n.482A>C
c.7141A>C (p.Ile2381Leu)
c.7075A>C (p.Ile2359Leu)
c.7138A>C (p.Ile2380Leu)
c.7135A>C (p.Ile2379Leu)
c.7081A>C (p.Ile2361Leu)
c.7051A>C (p.Ile2351Leu)
c.7006A>C (p.Ile2336Leu)
c.6601A>C (p.Ile2201Leu)
c.5959A>C (p.Ile1987Leu)
c.3469A>C (p.Ile1157Leu)
10g.71798470A>GCA377158016CDH23c.6946A>G (p.Ile2316Val)
c.879A>G (n.879A>G)
c.543A>G (n.543A>G)
c.6961A>G (p.Ile2321Val)
c.226A>G (p.Ile76Val)
n.482A>G
c.7141A>G (p.Ile2381Val)
c.7075A>G (p.Ile2359Val)
c.7138A>G (p.Ile2380Val)
c.7135A>G (p.Ile2379Val)
c.7081A>G (p.Ile2361Val)
c.7051A>G (p.Ile2351Val)
c.7006A>G (p.Ile2336Val)
c.6601A>G (p.Ile2201Val)
c.5959A>G (p.Ile1987Val)
c.3469A>G (p.Ile1157Val)
10g.71798470A>TCA377158015CDH23c.6946A>T (p.Ile2316Phe)
c.879A>T (n.879A>T)
c.543A>T (n.543A>T)
c.6961A>T (p.Ile2321Phe)
c.226A>T (p.Ile76Phe)
n.482A>T
c.7141A>T (p.Ile2381Phe)
c.7075A>T (p.Ile2359Phe)
c.7138A>T (p.Ile2380Phe)
c.7135A>T (p.Ile2379Phe)
c.7081A>T (p.Ile2361Phe)
c.7051A>T (p.Ile2351Phe)
c.7006A>T (p.Ile2336Phe)
c.6601A>T (p.Ile2201Phe)
c.5959A>T (p.Ile1987Phe)
c.3469A>T (p.Ile1157Phe)
10g.71798471T>ACA377158018CDH23c.6947T>A (p.Ile2316Asn)
c.880T>A (n.880T>A)
c.544T>A (n.544T>A)
c.6962T>A (p.Ile2321Asn)
c.227T>A (p.Ile76Asn)
n.483T>A
c.7142T>A (p.Ile2381Asn)
c.7076T>A (p.Ile2359Asn)
c.7139T>A (p.Ile2380Asn)
c.7136T>A (p.Ile2379Asn)
c.7082T>A (p.Ile2361Asn)
c.7052T>A (p.Ile2351Asn)
c.7007T>A (p.Ile2336Asn)
c.6602T>A (p.Ile2201Asn)
c.5960T>A (p.Ile1987Asn)
c.3470T>A (p.Ile1157Asn)
10g.71798471T>CCA377158019CDH23c.6947T>C (p.Ile2316Thr)
c.880T>C (n.880T>C)
c.544T>C (n.544T>C)
c.6962T>C (p.Ile2321Thr)
c.227T>C (p.Ile76Thr)
n.483T>C
c.7142T>C (p.Ile2381Thr)
c.7076T>C (p.Ile2359Thr)
c.7139T>C (p.Ile2380Thr)
c.7136T>C (p.Ile2379Thr)
c.7082T>C (p.Ile2361Thr)
c.7052T>C (p.Ile2351Thr)
c.7007T>C (p.Ile2336Thr)
c.6602T>C (p.Ile2201Thr)
c.5960T>C (p.Ile1987Thr)
c.3470T>C (p.Ile1157Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.71798471T>GCA377158021CDH23c.6947T>G (p.Ile2316Ser)
c.880T>G (n.880T>G)
c.544T>G (n.544T>G)
c.6962T>G (p.Ile2321Ser)
c.227T>G (p.Ile76Ser)
n.483T>G
c.7142T>G (p.Ile2381Ser)
c.7076T>G (p.Ile2359Ser)
c.7139T>G (p.Ile2380Ser)
c.7136T>G (p.Ile2379Ser)
c.7082T>G (p.Ile2361Ser)
c.7052T>G (p.Ile2351Ser)
c.7007T>G (p.Ile2336Ser)
c.6602T>G (p.Ile2201Ser)
c.5960T>G (p.Ile1987Ser)
c.3470T>G (p.Ile1157Ser)
10g.71798471T=CA1918878458CDH23c.6947T= (p.Ile2316=)
c.880T= (n.880T=)
c.544T= (n.544T=)
c.6962T= (p.Ile2321=)
c.227T= (p.Ile76=)
n.483T=
c.7142T= (p.Ile2381=)
c.7076T= (p.Ile2359=)
c.7139T= (p.Ile2380=)
c.7136T= (p.Ile2379=)
c.7082T= (p.Ile2361=)
c.7052T= (p.Ile2351=)
c.7007T= (p.Ile2336=)
c.6602T= (p.Ile2201=)
c.5960T= (p.Ile1987=)
c.3470T= (p.Ile1157=)
10g.71798472T>ACA470062052CDH23c.6948T>A (p.Ile2316=)
c.881T>A (n.881T>A)
c.545T>A (n.545T>A)
c.6963T>A (p.Ile2321=)
c.228T>A (p.Ile76=)
n.484T>A
c.7143T>A (p.Ile2381=)
c.7077T>A (p.Ile2359=)
c.7140T>A (p.Ile2380=)
c.7137T>A (p.Ile2379=)
c.7083T>A (p.Ile2361=)
c.7053T>A (p.Ile2351=)
c.7008T>A (p.Ile2336=)
c.6603T>A (p.Ile2201=)
c.5961T>A (p.Ile1987=)
c.3471T>A (p.Ile1157=)
10g.71798472T>CCA470062053CDH23c.6948T>C (p.Ile2316=)
c.881T>C (n.881T>C)
c.545T>C (n.545T>C)
c.6963T>C (p.Ile2321=)
c.228T>C (p.Ile76=)
n.484T>C
c.7143T>C (p.Ile2381=)
c.7077T>C (p.Ile2359=)
c.7140T>C (p.Ile2380=)
c.7137T>C (p.Ile2379=)
c.7083T>C (p.Ile2361=)
c.7053T>C (p.Ile2351=)
c.7008T>C (p.Ile2336=)
c.6603T>C (p.Ile2201=)
c.5961T>C (p.Ile1987=)
c.3471T>C (p.Ile1157=)
10g.71798472T>GCA377158023CDH23c.6948T>G (p.Ile2316Met)
c.881T>G (n.881T>G)
c.545T>G (n.545T>G)
c.6963T>G (p.Ile2321Met)
c.228T>G (p.Ile76Met)
n.484T>G
c.7143T>G (p.Ile2381Met)
c.7077T>G (p.Ile2359Met)
c.7140T>G (p.Ile2380Met)
c.7137T>G (p.Ile2379Met)
c.7083T>G (p.Ile2361Met)
c.7053T>G (p.Ile2351Met)
c.7008T>G (p.Ile2336Met)
c.6603T>G (p.Ile2201Met)
c.5961T>G (p.Ile1987Met)
c.3471T>G (p.Ile1157Met)
10g.71798473G>ACA377158027CDH23c.6949G>A (p.Ala2317Thr)
c.882G>A (n.882G>A)
c.546G>A (n.546G>A)
c.6964G>A (p.Ala2322Thr)
c.229G>A (p.Ala77Thr)
n.485G>A
c.7144G>A (p.Ala2382Thr)
c.7078G>A (p.Ala2360Thr)
c.7141G>A (p.Ala2381Thr)
c.7138G>A (p.Ala2380Thr)
c.7084G>A (p.Ala2362Thr)
c.7054G>A (p.Ala2352Thr)
c.7009G>A (p.Ala2337Thr)
c.6604G>A (p.Ala2202Thr)
c.5962G>A (p.Ala1988Thr)
c.3472G>A (p.Ala1158Thr)
 dbSNP
10g.71798473G>CCA377158025CDH23c.6949G>C (p.Ala2317Pro)
c.882G>C (n.882G>C)
c.546G>C (n.546G>C)
c.6964G>C (p.Ala2322Pro)
c.229G>C (p.Ala77Pro)
n.485G>C
c.7144G>C (p.Ala2382Pro)
c.7078G>C (p.Ala2360Pro)
c.7141G>C (p.Ala2381Pro)
c.7138G>C (p.Ala2380Pro)
c.7084G>C (p.Ala2362Pro)
c.7054G>C (p.Ala2352Pro)
c.7009G>C (p.Ala2337Pro)
c.6604G>C (p.Ala2202Pro)
c.5962G>C (p.Ala1988Pro)
c.3472G>C (p.Ala1158Pro)
10g.71798473G=CA1918878459CDH23c.6949G= (p.Ala2317=)
c.882G= (n.882G=)
c.546G= (n.546G=)
c.6964G= (p.Ala2322=)
c.229G= (p.Ala77=)
n.485G=
c.7144G= (p.Ala2382=)
c.7078G= (p.Ala2360=)
c.7141G= (p.Ala2381=)
c.7138G= (p.Ala2380=)
c.7084G= (p.Ala2362=)
c.7054G= (p.Ala2352=)
c.7009G= (p.Ala2337=)
c.6604G= (p.Ala2202=)
c.5962G= (p.Ala1988=)
c.3472G= (p.Ala1158=)
10g.71798473G>TCA175511CDH23c.6949G>T (p.Ala2317Ser)
c.882G>T (n.882G>T)
c.546G>T (n.546G>T)
c.6964G>T (p.Ala2322Ser)
c.229G>T (p.Ala77Ser)
n.485G>T
c.7144G>T (p.Ala2382Ser)
c.7078G>T (p.Ala2360Ser)
c.7141G>T (p.Ala2381Ser)
c.7138G>T (p.Ala2380Ser)
c.7084G>T (p.Ala2362Ser)
c.7054G>T (p.Ala2352Ser)
c.7009G>T (p.Ala2337Ser)
c.6604G>T (p.Ala2202Ser)
c.5962G>T (p.Ala1988Ser)
c.3472G>T (p.Ala1158Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798474C>ACA377158029CDH23c.6950C>A (p.Ala2317Asp)
c.883C>A (n.883C>A)
c.547C>A (n.547C>A)
c.6965C>A (p.Ala2322Asp)
c.230C>A (p.Ala77Asp)
n.486C>A
c.7145C>A (p.Ala2382Asp)
c.7079C>A (p.Ala2360Asp)
c.7142C>A (p.Ala2381Asp)
c.7139C>A (p.Ala2380Asp)
c.7085C>A (p.Ala2362Asp)
c.7055C>A (p.Ala2352Asp)
c.7010C>A (p.Ala2337Asp)
c.6605C>A (p.Ala2202Asp)
c.5963C>A (p.Ala1988Asp)
c.3473C>A (p.Ala1158Asp)
10g.71798474C>GCA377158030CDH23c.6950C>G (p.Ala2317Gly)
c.883C>G (n.883C>G)
c.547C>G (n.547C>G)
c.6965C>G (p.Ala2322Gly)
c.230C>G (p.Ala77Gly)
n.486C>G
c.7145C>G (p.Ala2382Gly)
c.7079C>G (p.Ala2360Gly)
c.7142C>G (p.Ala2381Gly)
c.7139C>G (p.Ala2380Gly)
c.7085C>G (p.Ala2362Gly)
c.7055C>G (p.Ala2352Gly)
c.7010C>G (p.Ala2337Gly)
c.6605C>G (p.Ala2202Gly)
c.5963C>G (p.Ala1988Gly)
c.3473C>G (p.Ala1158Gly)
10g.71798474C>TCA377158032CDH23c.6950C>T (p.Ala2317Val)
c.883C>T (n.883C>T)
c.547C>T (n.547C>T)
c.6965C>T (p.Ala2322Val)
c.230C>T (p.Ala77Val)
n.486C>T
c.7145C>T (p.Ala2382Val)
c.7079C>T (p.Ala2360Val)
c.7142C>T (p.Ala2381Val)
c.7139C>T (p.Ala2380Val)
c.7085C>T (p.Ala2362Val)
c.7055C>T (p.Ala2352Val)
c.7010C>T (p.Ala2337Val)
c.6605C>T (p.Ala2202Val)
c.5963C>T (p.Ala1988Val)
c.3473C>T (p.Ala1158Val)
10g.71798475T>ACA470062054CDH23c.6951T>A (p.Ala2317=)
c.884T>A (n.884T>A)
c.548T>A (n.548T>A)
c.6966T>A (p.Ala2322=)
c.231T>A (p.Ala77=)
n.487T>A
c.7146T>A (p.Ala2382=)
c.7080T>A (p.Ala2360=)
c.7143T>A (p.Ala2381=)
c.7140T>A (p.Ala2380=)
c.7086T>A (p.Ala2362=)
c.7056T>A (p.Ala2352=)
c.7011T>A (p.Ala2337=)
c.6606T>A (p.Ala2202=)
c.5964T>A (p.Ala1988=)
c.3474T>A (p.Ala1158=)
10g.71798475T>CCA470062056CDH23c.6951T>C (p.Ala2317=)
c.884T>C (n.884T>C)
c.548T>C (n.548T>C)
c.6966T>C (p.Ala2322=)
c.231T>C (p.Ala77=)
n.487T>C
c.7146T>C (p.Ala2382=)
c.7080T>C (p.Ala2360=)
c.7143T>C (p.Ala2381=)
c.7140T>C (p.Ala2380=)
c.7086T>C (p.Ala2362=)
c.7056T>C (p.Ala2352=)
c.7011T>C (p.Ala2337=)
c.6606T>C (p.Ala2202=)
c.5964T>C (p.Ala1988=)
c.3474T>C (p.Ala1158=)
10g.71798475T>GCA470062055CDH23c.6951T>G (p.Ala2317=)
c.884T>G (n.884T>G)
c.548T>G (n.548T>G)
c.6966T>G (p.Ala2322=)
c.231T>G (p.Ala77=)
n.487T>G
c.7146T>G (p.Ala2382=)
c.7080T>G (p.Ala2360=)
c.7143T>G (p.Ala2381=)
c.7140T>G (p.Ala2380=)
c.7086T>G (p.Ala2362=)
c.7056T>G (p.Ala2352=)
c.7011T>G (p.Ala2337=)
c.6606T>G (p.Ala2202=)
c.5964T>G (p.Ala1988=)
c.3474T>G (p.Ala1158=)
10g.71798476G>ACA377158033CDH23c.6952G>A (p.Val2318Met)
c.885G>A (n.885G>A)
c.549G>A (n.549G>A)
c.6967G>A (p.Val2323Met)
c.232G>A (p.Val78Met)
n.488G>A
c.7147G>A (p.Val2383Met)
c.7081G>A (p.Val2361Met)
c.7144G>A (p.Val2382Met)
c.7141G>A (p.Val2381Met)
c.7087G>A (p.Val2363Met)
c.7057G>A (p.Val2353Met)
c.7012G>A (p.Val2338Met)
c.6607G>A (p.Val2203Met)
c.5965G>A (p.Val1989Met)
c.3475G>A (p.Val1159Met)
 dbSNP gnomAD v3 gnomAD v4
10g.71798476G>CCA377158035CDH23c.6952G>C (p.Val2318Leu)
c.885G>C (n.885G>C)
c.549G>C (n.549G>C)
c.6967G>C (p.Val2323Leu)
c.232G>C (p.Val78Leu)
n.488G>C
c.7147G>C (p.Val2383Leu)
c.7081G>C (p.Val2361Leu)
c.7144G>C (p.Val2382Leu)
c.7141G>C (p.Val2381Leu)
c.7087G>C (p.Val2363Leu)
c.7057G>C (p.Val2353Leu)
c.7012G>C (p.Val2338Leu)
c.6607G>C (p.Val2203Leu)
c.5965G>C (p.Val1989Leu)
c.3475G>C (p.Val1159Leu)
10g.71798476G=CA1918878460CDH23c.6952G= (p.Val2318=)
c.885G= (n.885G=)
c.549G= (n.549G=)
c.6967G= (p.Val2323=)
c.232G= (p.Val78=)
n.488G=
c.7147G= (p.Val2383=)
c.7081G= (p.Val2361=)
c.7144G= (p.Val2382=)
c.7141G= (p.Val2381=)
c.7087G= (p.Val2363=)
c.7057G= (p.Val2353=)
c.7012G= (p.Val2338=)
c.6607G= (p.Val2203=)
c.5965G= (p.Val1989=)
c.3475G= (p.Val1159=)
10g.71798476G>TCA377158037CDH23c.6952G>T (p.Val2318Leu)
c.885G>T (n.885G>T)
c.549G>T (n.549G>T)
c.6967G>T (p.Val2323Leu)
c.232G>T (p.Val78Leu)
n.488G>T
c.7147G>T (p.Val2383Leu)
c.7081G>T (p.Val2361Leu)
c.7144G>T (p.Val2382Leu)
c.7141G>T (p.Val2381Leu)
c.7087G>T (p.Val2363Leu)
c.7057G>T (p.Val2353Leu)
c.7012G>T (p.Val2338Leu)
c.6607G>T (p.Val2203Leu)
c.5965G>T (p.Val1989Leu)
c.3475G>T (p.Val1159Leu)
10g.71798477T>ACA377158041CDH23c.6953T>A (p.Val2318Glu)
c.886T>A (n.886T>A)
c.550T>A (n.550T>A)
c.6968T>A (p.Val2323Glu)
c.233T>A (p.Val78Glu)
n.489T>A
c.7148T>A (p.Val2383Glu)
c.7082T>A (p.Val2361Glu)
c.7145T>A (p.Val2382Glu)
c.7142T>A (p.Val2381Glu)
c.7088T>A (p.Val2363Glu)
c.7058T>A (p.Val2353Glu)
c.7013T>A (p.Val2338Glu)
c.6608T>A (p.Val2203Glu)
c.5966T>A (p.Val1989Glu)
c.3476T>A (p.Val1159Glu)
10g.71798477T>CCA377158039CDH23c.6953T>C (p.Val2318Ala)
c.886T>C (n.886T>C)
c.550T>C (n.550T>C)
c.6968T>C (p.Val2323Ala)
c.233T>C (p.Val78Ala)
n.489T>C
c.7148T>C (p.Val2383Ala)
c.7082T>C (p.Val2361Ala)
c.7145T>C (p.Val2382Ala)
c.7142T>C (p.Val2381Ala)
c.7088T>C (p.Val2363Ala)
c.7058T>C (p.Val2353Ala)
c.7013T>C (p.Val2338Ala)
c.6608T>C (p.Val2203Ala)
c.5966T>C (p.Val1989Ala)
c.3476T>C (p.Val1159Ala)
10g.71798477T>GCA377158038CDH23c.6953T>G (p.Val2318Gly)
c.886T>G (n.886T>G)
c.550T>G (n.550T>G)
c.6968T>G (p.Val2323Gly)
c.233T>G (p.Val78Gly)
n.489T>G
c.7148T>G (p.Val2383Gly)
c.7082T>G (p.Val2361Gly)
c.7145T>G (p.Val2382Gly)
c.7142T>G (p.Val2381Gly)
c.7088T>G (p.Val2363Gly)
c.7058T>G (p.Val2353Gly)
c.7013T>G (p.Val2338Gly)
c.6608T>G (p.Val2203Gly)
c.5966T>G (p.Val1989Gly)
c.3476T>G (p.Val1159Gly)
10g.71798478G>ACA470062058CDH23c.6954G>A (p.Val2318=)
c.887G>A (n.887G>A)
c.551G>A (n.551G>A)
c.6969G>A (p.Val2323=)
c.234G>A (p.Val78=)
n.490G>A
c.7149G>A (p.Val2383=)
c.7083G>A (p.Val2361=)
c.7146G>A (p.Val2382=)
c.7143G>A (p.Val2381=)
c.7089G>A (p.Val2363=)
c.7059G>A (p.Val2353=)
c.7014G>A (p.Val2338=)
c.6609G>A (p.Val2203=)
c.5967G>A (p.Val1989=)
c.3477G>A (p.Val1159=)
 COSMIC
10g.71798478G>CCA470062059CDH23c.6954G>C (p.Val2318=)
c.887G>C (n.887G>C)
c.551G>C (n.551G>C)
c.6969G>C (p.Val2323=)
c.234G>C (p.Val78=)
n.490G>C
c.7149G>C (p.Val2383=)
c.7083G>C (p.Val2361=)
c.7146G>C (p.Val2382=)
c.7143G>C (p.Val2381=)
c.7089G>C (p.Val2363=)
c.7059G>C (p.Val2353=)
c.7014G>C (p.Val2338=)
c.6609G>C (p.Val2203=)
c.5967G>C (p.Val1989=)
c.3477G>C (p.Val1159=)
 ClinVar dbSNP
10g.71798478G>TCA470062060CDH23c.6954G>T (p.Val2318=)
c.887G>T (n.887G>T)
c.551G>T (n.551G>T)
c.6969G>T (p.Val2323=)
c.234G>T (p.Val78=)
n.490G>T
c.7149G>T (p.Val2383=)
c.7083G>T (p.Val2361=)
c.7146G>T (p.Val2382=)
c.7143G>T (p.Val2381=)
c.7089G>T (p.Val2363=)
c.7059G>T (p.Val2353=)
c.7014G>T (p.Val2338=)
c.6609G>T (p.Val2203=)
c.5967G>T (p.Val1989=)
c.3477G>T (p.Val1159=)
10g.71798479G>ACA377158045CDH23c.6955G>A (p.Ala2319Thr)
c.888G>A (n.888G>A)
c.552G>A (n.552G>A)
c.6970G>A (p.Ala2324Thr)
c.235G>A (p.Ala79Thr)
n.491G>A
c.7150G>A (p.Ala2384Thr)
c.7084G>A (p.Ala2362Thr)
c.7147G>A (p.Ala2383Thr)
c.7144G>A (p.Ala2382Thr)
c.7090G>A (p.Ala2364Thr)
c.7060G>A (p.Ala2354Thr)
c.7015G>A (p.Ala2339Thr)
c.6610G>A (p.Ala2204Thr)
c.5968G>A (p.Ala1990Thr)
c.3478G>A (p.Ala1160Thr)
 dbSNP gnomAD v4
10g.71798479G>CCA377158047CDH23c.6955G>C (p.Ala2319Pro)
c.888G>C (n.888G>C)
c.552G>C (n.552G>C)
c.6970G>C (p.Ala2324Pro)
c.235G>C (p.Ala79Pro)
n.491G>C
c.7150G>C (p.Ala2384Pro)
c.7084G>C (p.Ala2362Pro)
c.7147G>C (p.Ala2383Pro)
c.7144G>C (p.Ala2382Pro)
c.7090G>C (p.Ala2364Pro)
c.7060G>C (p.Ala2354Pro)
c.7015G>C (p.Ala2339Pro)
c.6610G>C (p.Ala2204Pro)
c.5968G>C (p.Ala1990Pro)
c.3478G>C (p.Ala1160Pro)
 gnomAD v4
10g.71798479G>TCA377158049CDH23c.6955G>T (p.Ala2319Ser)
c.888G>T (n.888G>T)
c.552G>T (n.552G>T)
c.6970G>T (p.Ala2324Ser)
c.235G>T (p.Ala79Ser)
n.491G>T
c.7150G>T (p.Ala2384Ser)
c.7084G>T (p.Ala2362Ser)
c.7147G>T (p.Ala2383Ser)
c.7144G>T (p.Ala2382Ser)
c.7090G>T (p.Ala2364Ser)
c.7060G>T (p.Ala2354Ser)
c.7015G>T (p.Ala2339Ser)
c.6610G>T (p.Ala2204Ser)
c.5968G>T (p.Ala1990Ser)
c.3478G>T (p.Ala1160Ser)
10g.71798480C>ACA377158050CDH23c.6956C>A (p.Ala2319Glu)
c.889C>A (n.889C>A)
c.553C>A (n.553C>A)
c.6971C>A (p.Ala2324Glu)
c.236C>A (p.Ala79Glu)
n.492C>A
c.7151C>A (p.Ala2384Glu)
c.7085C>A (p.Ala2362Glu)
c.7148C>A (p.Ala2383Glu)
c.7145C>A (p.Ala2382Glu)
c.7091C>A (p.Ala2364Glu)
c.7061C>A (p.Ala2354Glu)
c.7016C>A (p.Ala2339Glu)
c.6611C>A (p.Ala2204Glu)
c.5969C>A (p.Ala1990Glu)
c.3479C>A (p.Ala1160Glu)
10g.71798480C>GCA377158051CDH23c.6956C>G (p.Ala2319Gly)
c.889C>G (n.889C>G)
c.553C>G (n.553C>G)
c.6971C>G (p.Ala2324Gly)
c.236C>G (p.Ala79Gly)
n.492C>G
c.7151C>G (p.Ala2384Gly)
c.7085C>G (p.Ala2362Gly)
c.7148C>G (p.Ala2383Gly)
c.7145C>G (p.Ala2382Gly)
c.7091C>G (p.Ala2364Gly)
c.7061C>G (p.Ala2354Gly)
c.7016C>G (p.Ala2339Gly)
c.6611C>G (p.Ala2204Gly)
c.5969C>G (p.Ala1990Gly)
c.3479C>G (p.Ala1160Gly)
10g.71798480C>TCA377158053CDH23c.6956C>T (p.Ala2319Val)
c.889C>T (n.889C>T)
c.553C>T (n.553C>T)
c.6971C>T (p.Ala2324Val)
c.236C>T (p.Ala79Val)
n.492C>T
c.7151C>T (p.Ala2384Val)
c.7085C>T (p.Ala2362Val)
c.7148C>T (p.Ala2383Val)
c.7145C>T (p.Ala2382Val)
c.7091C>T (p.Ala2364Val)
c.7061C>T (p.Ala2354Val)
c.7016C>T (p.Ala2339Val)
c.6611C>T (p.Ala2204Val)
c.5969C>T (p.Ala1990Val)
c.3479C>T (p.Ala1160Val)
10g.71798481A>CCA470062061CDH23c.6957A>C (p.Ala2319=)
c.890A>C (n.890A>C)
c.554A>C (n.554A>C)
c.6972A>C (p.Ala2324=)
c.237A>C (p.Ala79=)
n.493A>C
c.7152A>C (p.Ala2384=)
c.7086A>C (p.Ala2362=)
c.7149A>C (p.Ala2383=)
c.7146A>C (p.Ala2382=)
c.7092A>C (p.Ala2364=)
c.7062A>C (p.Ala2354=)
c.7017A>C (p.Ala2339=)
c.6612A>C (p.Ala2204=)
c.5970A>C (p.Ala1990=)
c.3480A>C (p.Ala1160=)
10g.71798481A>GCA470062063CDH23c.6957A>G (p.Ala2319=)
c.890A>G (n.890A>G)
c.554A>G (n.554A>G)
c.6972A>G (p.Ala2324=)
c.237A>G (p.Ala79=)
n.493A>G
c.7152A>G (p.Ala2384=)
c.7086A>G (p.Ala2362=)
c.7149A>G (p.Ala2383=)
c.7146A>G (p.Ala2382=)
c.7092A>G (p.Ala2364=)
c.7062A>G (p.Ala2354=)
c.7017A>G (p.Ala2339=)
c.6612A>G (p.Ala2204=)
c.5970A>G (p.Ala1990=)
c.3480A>G (p.Ala1160=)
10g.71798481A>TCA470062064CDH23c.6957A>T (p.Ala2319=)
c.890A>T (n.890A>T)
c.554A>T (n.554A>T)
c.6972A>T (p.Ala2324=)
c.237A>T (p.Ala79=)
n.493A>T
c.7152A>T (p.Ala2384=)
c.7086A>T (p.Ala2362=)
c.7149A>T (p.Ala2383=)
c.7146A>T (p.Ala2382=)
c.7092A>T (p.Ala2364=)
c.7062A>T (p.Ala2354=)
c.7017A>T (p.Ala2339=)
c.6612A>T (p.Ala2204=)
c.5970A>T (p.Ala1990=)
c.3480A>T (p.Ala1160=)
10g.71798482G>ACA377158055CDH23c.6958G>A (p.Ala2320Thr)
c.891G>A (n.891G>A)
c.555G>A (n.555G>A)
c.6973G>A (p.Ala2325Thr)
c.238G>A (p.Ala80Thr)
n.494G>A
c.7153G>A (p.Ala2385Thr)
c.7087G>A (p.Ala2363Thr)
c.7150G>A (p.Ala2384Thr)
c.7147G>A (p.Ala2383Thr)
c.7093G>A (p.Ala2365Thr)
c.7063G>A (p.Ala2355Thr)
c.7018G>A (p.Ala2340Thr)
c.6613G>A (p.Ala2205Thr)
c.5971G>A (p.Ala1991Thr)
c.3481G>A (p.Ala1161Thr)
10g.71798482G>CCA377158058CDH23c.6958G>C (p.Ala2320Pro)
c.891G>C (n.891G>C)
c.555G>C (n.555G>C)
c.6973G>C (p.Ala2325Pro)
c.238G>C (p.Ala80Pro)
n.494G>C
c.7153G>C (p.Ala2385Pro)
c.7087G>C (p.Ala2363Pro)
c.7150G>C (p.Ala2384Pro)
c.7147G>C (p.Ala2383Pro)
c.7093G>C (p.Ala2365Pro)
c.7063G>C (p.Ala2355Pro)
c.7018G>C (p.Ala2340Pro)
c.6613G>C (p.Ala2205Pro)
c.5971G>C (p.Ala1991Pro)
c.3481G>C (p.Ala1161Pro)
10g.71798482G=CA1918878461CDH23c.6958G= (p.Ala2320=)
c.891G= (n.891G=)
c.555G= (n.555G=)
c.6973G= (p.Ala2325=)
c.238G= (p.Ala80=)
n.494G=
c.7153G= (p.Ala2385=)
c.7087G= (p.Ala2363=)
c.7150G= (p.Ala2384=)
c.7147G= (p.Ala2383=)
c.7093G= (p.Ala2365=)
c.7063G= (p.Ala2355=)
c.7018G= (p.Ala2340=)
c.6613G= (p.Ala2205=)
c.5971G= (p.Ala1991=)
c.3481G= (p.Ala1161=)
10g.71798482G>TCA377158057CDH23c.6958G>T (p.Ala2320Ser)
c.891G>T (n.891G>T)
c.555G>T (n.555G>T)
c.6973G>T (p.Ala2325Ser)
c.238G>T (p.Ala80Ser)
n.494G>T
c.7153G>T (p.Ala2385Ser)
c.7087G>T (p.Ala2363Ser)
c.7150G>T (p.Ala2384Ser)
c.7147G>T (p.Ala2383Ser)
c.7093G>T (p.Ala2365Ser)
c.7063G>T (p.Ala2355Ser)
c.7018G>T (p.Ala2340Ser)
c.6613G>T (p.Ala2205Ser)
c.5971G>T (p.Ala1991Ser)
c.3481G>T (p.Ala1161Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.71798482_71798490delinsGCCGTGGACCA1918878462CDH23c.6958_6966delinsGCCGTGGAC (p.Ala2320=)
c.891_899delinsGCCGTGGAC (n.891_899delinsGCCGTGGAC)
c.555_563delinsGCCGTGGAC (n.555_563delinsGCCGTGGAC)
c.6973_6981delinsGCCGTGGAC (p.Ala2325=)
c.238_246delinsGCCGTGGAC (p.Ala80=)
n.494_502delinsGCCGTGGAC
c.7153_7161delinsGCCGTGGAC (p.Ala2385=)
c.7087_7095delinsGCCGTGGAC (p.Ala2363=)
c.7150_7158delinsGCCGTGGAC (p.Ala2384=)
c.7147_7155delinsGCCGTGGAC (p.Ala2383=)
c.7093_7101delinsGCCGTGGAC (p.Ala2365=)
c.7063_7071delinsGCCGTGGAC (p.Ala2355=)
c.7018_7026delinsGCCGTGGAC (p.Ala2340=)
c.6613_6621delinsGCCGTGGAC (p.Ala2205=)
c.5971_5979delinsGCCGTGGAC (p.Ala1991=)
c.3481_3489delinsGCCGTGGAC (p.Ala1161=)
10g.71798483C>ACA377158060CDH23c.6959C>A (p.Ala2320Asp)
c.892C>A (n.892C>A)
c.556C>A (n.556C>A)
c.6974C>A (p.Ala2325Asp)
c.239C>A (p.Ala80Asp)
n.495C>A
c.7154C>A (p.Ala2385Asp)
c.7088C>A (p.Ala2363Asp)
c.7151C>A (p.Ala2384Asp)
c.7148C>A (p.Ala2383Asp)
c.7094C>A (p.Ala2365Asp)
c.7064C>A (p.Ala2355Asp)
c.7019C>A (p.Ala2340Asp)
c.6614C>A (p.Ala2205Asp)
c.5972C>A (p.Ala1991Asp)
c.3482C>A (p.Ala1161Asp)
 dbSNP
10g.71798483C=CA1918878463CDH23c.6959C= (p.Ala2320=)
c.892C= (n.892C=)
c.556C= (n.556C=)
c.6974C= (p.Ala2325=)
c.239C= (p.Ala80=)
n.495C=
c.7154C= (p.Ala2385=)
c.7088C= (p.Ala2363=)
c.7151C= (p.Ala2384=)
c.7148C= (p.Ala2383=)
c.7094C= (p.Ala2365=)
c.7064C= (p.Ala2355=)
c.7019C= (p.Ala2340=)
c.6614C= (p.Ala2205=)
c.5972C= (p.Ala1991=)
c.3482C= (p.Ala1161=)
10g.71798483C>GCA377158062CDH23c.6959C>G (p.Ala2320Gly)
c.892C>G (n.892C>G)
c.556C>G (n.556C>G)
c.6974C>G (p.Ala2325Gly)
c.239C>G (p.Ala80Gly)
n.495C>G
c.7154C>G (p.Ala2385Gly)
c.7088C>G (p.Ala2363Gly)
c.7151C>G (p.Ala2384Gly)
c.7148C>G (p.Ala2383Gly)
c.7094C>G (p.Ala2365Gly)
c.7064C>G (p.Ala2355Gly)
c.7019C>G (p.Ala2340Gly)
c.6614C>G (p.Ala2205Gly)
c.5972C>G (p.Ala1991Gly)
c.3482C>G (p.Ala1161Gly)
 dbSNP
10g.71798483C>TCA209469626CDH23c.6959C>T (p.Ala2320Val)
c.892C>T (n.892C>T)
c.556C>T (n.556C>T)
c.6974C>T (p.Ala2325Val)
c.239C>T (p.Ala80Val)
n.495C>T
c.7154C>T (p.Ala2385Val)
c.7088C>T (p.Ala2363Val)
c.7151C>T (p.Ala2384Val)
c.7148C>T (p.Ala2383Val)
c.7094C>T (p.Ala2365Val)
c.7064C>T (p.Ala2355Val)
c.7019C>T (p.Ala2340Val)
c.6614C>T (p.Ala2205Val)
c.5972C>T (p.Ala1991Val)
c.3482C>T (p.Ala1161Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798485_71798492delCA1918878464CDH23c.6961_6968del (p.Val2321Ter)
c.894_901del (n.894_901del)
c.558_565del (n.558_565del)
c.6976_6983del (p.Val2326Ter)
c.241_248del (p.Val81Ter)
n.497_504del
c.7156_7163del (p.Val2386Ter)
c.7090_7097del (p.Val2364Ter)
c.7153_7160del (p.Val2385Ter)
c.7150_7157del (p.Val2384Ter)
c.7096_7103del (p.Val2366Ter)
c.7066_7073del (p.Val2356Ter)
c.7021_7028del (p.Val2341Ter)
c.6616_6623del (p.Val2206Ter)
c.5974_5981del (p.Val1992Ter)
c.3484_3491del (p.Val1162Ter)
 ClinVar dbSNP
10g.71798484C>ACA470062067CDH23c.6960C>A (p.Ala2320=)
c.893C>A (n.893C>A)
c.557C>A (n.557C>A)
c.6975C>A (p.Ala2325=)
c.240C>A (p.Ala80=)
n.496C>A
c.7155C>A (p.Ala2385=)
c.7089C>A (p.Ala2363=)
c.7152C>A (p.Ala2384=)
c.7149C>A (p.Ala2383=)
c.7095C>A (p.Ala2365=)
c.7065C>A (p.Ala2355=)
c.7020C>A (p.Ala2340=)
c.6615C>A (p.Ala2205=)
c.5973C>A (p.Ala1991=)
c.3483C>A (p.Ala1161=)
10g.71798484C=CA1918878465CDH23c.6960C= (p.Ala2320=)
c.893C= (n.893C=)
c.557C= (n.557C=)
c.6975C= (p.Ala2325=)
c.240C= (p.Ala80=)
n.496C=
c.7155C= (p.Ala2385=)
c.7089C= (p.Ala2363=)
c.7152C= (p.Ala2384=)
c.7149C= (p.Ala2383=)
c.7095C= (p.Ala2365=)
c.7065C= (p.Ala2355=)
c.7020C= (p.Ala2340=)
c.6615C= (p.Ala2205=)
c.5973C= (p.Ala1991=)
c.3483C= (p.Ala1161=)
10g.71798484C>GCA470062065CDH23c.6960C>G (p.Ala2320=)
c.893C>G (n.893C>G)
c.557C>G (n.557C>G)
c.6975C>G (p.Ala2325=)
c.240C>G (p.Ala80=)
n.496C>G
c.7155C>G (p.Ala2385=)
c.7089C>G (p.Ala2363=)
c.7152C>G (p.Ala2384=)
c.7149C>G (p.Ala2383=)
c.7095C>G (p.Ala2365=)
c.7065C>G (p.Ala2355=)
c.7020C>G (p.Ala2340=)
c.6615C>G (p.Ala2205=)
c.5973C>G (p.Ala1991=)
c.3483C>G (p.Ala1161=)
10g.71798484C>TCA470062066CDH23c.6960C>T (p.Ala2320=)
c.893C>T (n.893C>T)
c.557C>T (n.557C>T)
c.6975C>T (p.Ala2325=)
c.240C>T (p.Ala80=)
n.496C>T
c.7155C>T (p.Ala2385=)
c.7089C>T (p.Ala2363=)
c.7152C>T (p.Ala2384=)
c.7149C>T (p.Ala2383=)
c.7095C>T (p.Ala2365=)
c.7065C>T (p.Ala2355=)
c.7020C>T (p.Ala2340=)
c.6615C>T (p.Ala2205=)
c.5973C>T (p.Ala1991=)
c.3483C>T (p.Ala1161=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798485G>ACA5546227CDH23c.6961G>A (p.Val2321Met)
c.894G>A (n.894G>A)
c.558G>A (n.558G>A)
c.6976G>A (p.Val2326Met)
c.241G>A (p.Val81Met)
n.497G>A
c.7156G>A (p.Val2386Met)
c.7090G>A (p.Val2364Met)
c.7153G>A (p.Val2385Met)
c.7150G>A (p.Val2384Met)
c.7096G>A (p.Val2366Met)
c.7066G>A (p.Val2356Met)
c.7021G>A (p.Val2341Met)
c.6616G>A (p.Val2206Met)
c.5974G>A (p.Val1992Met)
c.3484G>A (p.Val1162Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798485G>CCA377158064CDH23c.6961G>C (p.Val2321Leu)
c.894G>C (n.894G>C)
c.558G>C (n.558G>C)
c.6976G>C (p.Val2326Leu)
c.241G>C (p.Val81Leu)
n.497G>C
c.7156G>C (p.Val2386Leu)
c.7090G>C (p.Val2364Leu)
c.7153G>C (p.Val2385Leu)
c.7150G>C (p.Val2384Leu)
c.7096G>C (p.Val2366Leu)
c.7066G>C (p.Val2356Leu)
c.7021G>C (p.Val2341Leu)
c.6616G>C (p.Val2206Leu)
c.5974G>C (p.Val1992Leu)
c.3484G>C (p.Val1162Leu)
 dbSNP
10g.71798485G=CA1918878466CDH23c.6961G= (p.Val2321=)
c.894G= (n.894G=)
c.558G= (n.558G=)
c.6976G= (p.Val2326=)
c.241G= (p.Val81=)
n.497G=
c.7156G= (p.Val2386=)
c.7090G= (p.Val2364=)
c.7153G= (p.Val2385=)
c.7150G= (p.Val2384=)
c.7096G= (p.Val2366=)
c.7066G= (p.Val2356=)
c.7021G= (p.Val2341=)
c.6616G= (p.Val2206=)
c.5974G= (p.Val1992=)
c.3484G= (p.Val1162=)
10g.71798485G>TCA377158066CDH23c.6961G>T (p.Val2321Leu)
c.894G>T (n.894G>T)
c.558G>T (n.558G>T)
c.6976G>T (p.Val2326Leu)
c.241G>T (p.Val81Leu)
n.497G>T
c.7156G>T (p.Val2386Leu)
c.7090G>T (p.Val2364Leu)
c.7153G>T (p.Val2385Leu)
c.7150G>T (p.Val2384Leu)
c.7096G>T (p.Val2366Leu)
c.7066G>T (p.Val2356Leu)
c.7021G>T (p.Val2341Leu)
c.6616G>T (p.Val2206Leu)
c.5974G>T (p.Val1992Leu)
c.3484G>T (p.Val1162Leu)
10g.71798486T>ACA377158068CDH23c.6962T>A (p.Val2321Glu)
c.895T>A (n.895T>A)
c.559T>A (n.559T>A)
c.6977T>A (p.Val2326Glu)
c.242T>A (p.Val81Glu)
n.498T>A
c.7157T>A (p.Val2386Glu)
c.7091T>A (p.Val2364Glu)
c.7154T>A (p.Val2385Glu)
c.7151T>A (p.Val2384Glu)
c.7097T>A (p.Val2366Glu)
c.7067T>A (p.Val2356Glu)
c.7022T>A (p.Val2341Glu)
c.6617T>A (p.Val2206Glu)
c.5975T>A (p.Val1992Glu)
c.3485T>A (p.Val1162Glu)
10g.71798486T>CCA377158069CDH23c.6962T>C (p.Val2321Ala)
c.895T>C (n.895T>C)
c.559T>C (n.559T>C)
c.6977T>C (p.Val2326Ala)
c.242T>C (p.Val81Ala)
n.498T>C
c.7157T>C (p.Val2386Ala)
c.7091T>C (p.Val2364Ala)
c.7154T>C (p.Val2385Ala)
c.7151T>C (p.Val2384Ala)
c.7097T>C (p.Val2366Ala)
c.7067T>C (p.Val2356Ala)
c.7022T>C (p.Val2341Ala)
c.6617T>C (p.Val2206Ala)
c.5975T>C (p.Val1992Ala)
c.3485T>C (p.Val1162Ala)
 gnomAD v4
10g.71798486T>GCA377158070CDH23c.6962T>G (p.Val2321Gly)
c.895T>G (n.895T>G)
c.559T>G (n.559T>G)
c.6977T>G (p.Val2326Gly)
c.242T>G (p.Val81Gly)
n.498T>G
c.7157T>G (p.Val2386Gly)
c.7091T>G (p.Val2364Gly)
c.7154T>G (p.Val2385Gly)
c.7151T>G (p.Val2384Gly)
c.7097T>G (p.Val2366Gly)
c.7067T>G (p.Val2356Gly)
c.7022T>G (p.Val2341Gly)
c.6617T>G (p.Val2206Gly)
c.5975T>G (p.Val1992Gly)
c.3485T>G (p.Val1162Gly)
 dbSNP
10g.71798486T=CA1918878467CDH23c.6962T= (p.Val2321=)
c.895T= (n.895T=)
c.559T= (n.559T=)
c.6977T= (p.Val2326=)
c.242T= (p.Val81=)
n.498T=
c.7157T= (p.Val2386=)
c.7091T= (p.Val2364=)
c.7154T= (p.Val2385=)
c.7151T= (p.Val2384=)
c.7097T= (p.Val2366=)
c.7067T= (p.Val2356=)
c.7022T= (p.Val2341=)
c.6617T= (p.Val2206=)
c.5975T= (p.Val1992=)
c.3485T= (p.Val1162=)
10g.71798487G>ACA470062069CDH23c.6963G>A (p.Val2321=)
c.896G>A (n.896G>A)
c.560G>A (n.560G>A)
c.6978G>A (p.Val2326=)
c.243G>A (p.Val81=)
n.499G>A
c.7158G>A (p.Val2386=)
c.7092G>A (p.Val2364=)
c.7155G>A (p.Val2385=)
c.7152G>A (p.Val2384=)
c.7098G>A (p.Val2366=)
c.7068G>A (p.Val2356=)
c.7023G>A (p.Val2341=)
c.6618G>A (p.Val2206=)
c.5976G>A (p.Val1992=)
c.3486G>A (p.Val1162=)
 ClinVar dbSNP gnomAD v4
10g.71798487G>CCA470062070CDH23c.6963G>C (p.Val2321=)
c.896G>C (n.896G>C)
c.560G>C (n.560G>C)
c.6978G>C (p.Val2326=)
c.243G>C (p.Val81=)
n.499G>C
c.7158G>C (p.Val2386=)
c.7092G>C (p.Val2364=)
c.7155G>C (p.Val2385=)
c.7152G>C (p.Val2384=)
c.7098G>C (p.Val2366=)
c.7068G>C (p.Val2356=)
c.7023G>C (p.Val2341=)
c.6618G>C (p.Val2206=)
c.5976G>C (p.Val1992=)
c.3486G>C (p.Val1162=)
10g.71798487G>TCA470062071CDH23c.6963G>T (p.Val2321=)
c.896G>T (n.896G>T)
c.560G>T (n.560G>T)
c.6978G>T (p.Val2326=)
c.243G>T (p.Val81=)
n.499G>T
c.7158G>T (p.Val2386=)
c.7092G>T (p.Val2364=)
c.7155G>T (p.Val2385=)
c.7152G>T (p.Val2384=)
c.7098G>T (p.Val2366=)
c.7068G>T (p.Val2356=)
c.7023G>T (p.Val2341=)
c.6618G>T (p.Val2206=)
c.5976G>T (p.Val1992=)
c.3486G>T (p.Val1162=)
10g.71798488G>ACA377158071CDH23c.6964G>A (p.Asp2322Asn)
c.897G>A (n.897G>A)
c.561G>A (n.561G>A)
c.6979G>A (p.Asp2327Asn)
c.244G>A (p.Asp82Asn)
n.500G>A
c.7159G>A (p.Asp2387Asn)
c.7093G>A (p.Asp2365Asn)
c.7156G>A (p.Asp2386Asn)
c.7153G>A (p.Asp2385Asn)
c.7099G>A (p.Asp2367Asn)
c.7069G>A (p.Asp2357Asn)
c.7024G>A (p.Asp2342Asn)
c.6619G>A (p.Asp2207Asn)
c.5977G>A (p.Asp1993Asn)
c.3487G>A (p.Asp1163Asn)
 gnomAD v4
10g.71798488G>CCA377158072CDH23c.6964G>C (p.Asp2322His)
c.897G>C (n.897G>C)
c.561G>C (n.561G>C)
c.6979G>C (p.Asp2327His)
c.244G>C (p.Asp82His)
n.500G>C
c.7159G>C (p.Asp2387His)
c.7093G>C (p.Asp2365His)
c.7156G>C (p.Asp2386His)
c.7153G>C (p.Asp2385His)
c.7099G>C (p.Asp2367His)
c.7069G>C (p.Asp2357His)
c.7024G>C (p.Asp2342His)
c.6619G>C (p.Asp2207His)
c.5977G>C (p.Asp1993His)
c.3487G>C (p.Asp1163His)
10g.71798488G>TCA377158073CDH23c.6964G>T (p.Asp2322Tyr)
c.897G>T (n.897G>T)
c.561G>T (n.561G>T)
c.6979G>T (p.Asp2327Tyr)
c.244G>T (p.Asp82Tyr)
n.500G>T
c.7159G>T (p.Asp2387Tyr)
c.7093G>T (p.Asp2365Tyr)
c.7156G>T (p.Asp2386Tyr)
c.7153G>T (p.Asp2385Tyr)
c.7099G>T (p.Asp2367Tyr)
c.7069G>T (p.Asp2357Tyr)
c.7024G>T (p.Asp2342Tyr)
c.6619G>T (p.Asp2207Tyr)
c.5977G>T (p.Asp1993Tyr)
c.3487G>T (p.Asp1163Tyr)
 gnomAD v4
10g.71798489A=CA1918878469CDH23c.6965A= (p.Asp2322=)
c.898A= (n.898A=)
c.562A= (n.562A=)
c.6980A= (p.Asp2327=)
c.245A= (p.Asp82=)
n.501A=
c.7160A= (p.Asp2387=)
c.7094A= (p.Asp2365=)
c.7157A= (p.Asp2386=)
c.7154A= (p.Asp2385=)
c.7100A= (p.Asp2367=)
c.7070A= (p.Asp2357=)
c.7025A= (p.Asp2342=)
c.6620A= (p.Asp2207=)
c.5978A= (p.Asp1993=)
c.3488A= (p.Asp1163=)
10g.71798489A>CCA377158079CDH23c.6965A>C (p.Asp2322Ala)
c.898A>C (n.898A>C)
c.562A>C (n.562A>C)
c.6980A>C (p.Asp2327Ala)
c.245A>C (p.Asp82Ala)
n.501A>C
c.7160A>C (p.Asp2387Ala)
c.7094A>C (p.Asp2365Ala)
c.7157A>C (p.Asp2386Ala)
c.7154A>C (p.Asp2385Ala)
c.7100A>C (p.Asp2367Ala)
c.7070A>C (p.Asp2357Ala)
c.7025A>C (p.Asp2342Ala)
c.6620A>C (p.Asp2207Ala)
c.5978A>C (p.Asp1993Ala)
c.3488A>C (p.Asp1163Ala)
10g.71798489A>GCA377158074CDH23c.6965A>G (p.Asp2322Gly)
c.898A>G (n.898A>G)
c.562A>G (n.562A>G)
c.6980A>G (p.Asp2327Gly)
c.245A>G (p.Asp82Gly)
n.501A>G
c.7160A>G (p.Asp2387Gly)
c.7094A>G (p.Asp2365Gly)
c.7157A>G (p.Asp2386Gly)
c.7154A>G (p.Asp2385Gly)
c.7100A>G (p.Asp2367Gly)
c.7070A>G (p.Asp2357Gly)
c.7025A>G (p.Asp2342Gly)
c.6620A>G (p.Asp2207Gly)
c.5978A>G (p.Asp1993Gly)
c.3488A>G (p.Asp1163Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798489A>TCA377158076CDH23c.6965A>T (p.Asp2322Val)
c.898A>T (n.898A>T)
c.562A>T (n.562A>T)
c.6980A>T (p.Asp2327Val)
c.245A>T (p.Asp82Val)
n.501A>T
c.7160A>T (p.Asp2387Val)
c.7094A>T (p.Asp2365Val)
c.7157A>T (p.Asp2386Val)
c.7154A>T (p.Asp2385Val)
c.7100A>T (p.Asp2367Val)
c.7070A>T (p.Asp2357Val)
c.7025A>T (p.Asp2342Val)
c.6620A>T (p.Asp2207Val)
c.5978A>T (p.Asp1993Val)
c.3488A>T (p.Asp1163Val)
 ClinVar
10g.71798489_71798490delinsACCA1918878468CDH23c.6965_6966delinsAC (p.Asp2322=)
c.898_899delinsAC (n.898_899delinsAC)
c.562_563delinsAC (n.562_563delinsAC)
c.6980_6981delinsAC (p.Asp2327=)
c.245_246delinsAC (p.Asp82=)
n.501_502delinsAC
c.7160_7161delinsAC (p.Asp2387=)
c.7094_7095delinsAC (p.Asp2365=)
c.7157_7158delinsAC (p.Asp2386=)
c.7154_7155delinsAC (p.Asp2385=)
c.7100_7101delinsAC (p.Asp2367=)
c.7070_7071delinsAC (p.Asp2357=)
c.7025_7026delinsAC (p.Asp2342=)
c.6620_6621delinsAC (p.Asp2207=)
c.5978_5979delinsAC (p.Asp1993=)
c.3488_3489delinsAC (p.Asp1163=)
10g.71798490C>ACA377158081CDH23c.6966C>A (p.Asp2322Glu)
c.899C>A (n.899C>A)
c.563C>A (n.563C>A)
c.6981C>A (p.Asp2327Glu)
c.246C>A (p.Asp82Glu)
n.502C>A
c.7161C>A (p.Asp2387Glu)
c.7095C>A (p.Asp2365Glu)
c.7158C>A (p.Asp2386Glu)
c.7155C>A (p.Asp2385Glu)
c.7101C>A (p.Asp2367Glu)
c.7071C>A (p.Asp2357Glu)
c.7026C>A (p.Asp2342Glu)
c.6621C>A (p.Asp2207Glu)
c.5979C>A (p.Asp1993Glu)
c.3489C>A (p.Asp1163Glu)
 ClinVar dbSNP
10g.71798490C=CA1918878470CDH23c.6966C= (p.Asp2322=)
c.899C= (n.899C=)
c.563C= (n.563C=)
c.6981C= (p.Asp2327=)
c.246C= (p.Asp82=)
n.502C=
c.7161C= (p.Asp2387=)
c.7095C= (p.Asp2365=)
c.7158C= (p.Asp2386=)
c.7155C= (p.Asp2385=)
c.7101C= (p.Asp2367=)
c.7071C= (p.Asp2357=)
c.7026C= (p.Asp2342=)
c.6621C= (p.Asp2207=)
c.5979C= (p.Asp1993=)
c.3489C= (p.Asp1163=)
10g.71798490C>GCA377158082CDH23c.6966C>G (p.Asp2322Glu)
c.899C>G (n.899C>G)
c.563C>G (n.563C>G)
c.6981C>G (p.Asp2327Glu)
c.246C>G (p.Asp82Glu)
n.502C>G
c.7161C>G (p.Asp2387Glu)
c.7095C>G (p.Asp2365Glu)
c.7158C>G (p.Asp2386Glu)
c.7155C>G (p.Asp2385Glu)
c.7101C>G (p.Asp2367Glu)
c.7071C>G (p.Asp2357Glu)
c.7026C>G (p.Asp2342Glu)
c.6621C>G (p.Asp2207Glu)
c.5979C>G (p.Asp1993Glu)
c.3489C>G (p.Asp1163Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.71798490C>TCA470062073CDH23c.6966C>T (p.Asp2322=)
c.899C>T (n.899C>T)
c.563C>T (n.563C>T)
c.6981C>T (p.Asp2327=)
c.246C>T (p.Asp82=)
n.502C>T
c.7161C>T (p.Asp2387=)
c.7095C>T (p.Asp2365=)
c.7158C>T (p.Asp2386=)
c.7155C>T (p.Asp2385=)
c.7101C>T (p.Asp2367=)
c.7071C>T (p.Asp2357=)
c.7026C>T (p.Asp2342=)
c.6621C>T (p.Asp2207=)
c.5979C>T (p.Asp1993=)
c.3489C>T (p.Asp1163=)
10g.71798492delCA261796CDH23c.6968del (p.Pro2323LeufsTer?)
c.901del (n.901del)
c.565del (n.565del)
c.6983del (p.Pro2328LeufsTer?)
c.248del (p.Pro83LeufsTer?)
n.504del
c.7163del (p.Pro2388LeufsTer?)
c.7097del (p.Pro2366LeufsTer?)
c.7160del (p.Pro2387LeufsTer?)
c.7157del (p.Pro2386LeufsTer?)
c.7103del (p.Pro2368LeufsTer?)
c.7073del (p.Pro2358LeufsTer?)
c.7028del (p.Pro2343LeufsTer?)
c.6623del (p.Pro2208LeufsTer?)
c.5981del (p.Pro1994LeufsTer?)
c.3491del (p.Pro1164LeufsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71798491C>ACA377158085CDH23c.6967C>A (p.Pro2323Thr)
c.900C>A (n.900C>A)
c.564C>A (n.564C>A)
c.6982C>A (p.Pro2328Thr)
c.247C>A (p.Pro83Thr)
n.503C>A
c.7162C>A (p.Pro2388Thr)
c.7096C>A (p.Pro2366Thr)
c.7159C>A (p.Pro2387Thr)
c.7156C>A (p.Pro2386Thr)
c.7102C>A (p.Pro2368Thr)
c.7072C>A (p.Pro2358Thr)
c.7027C>A (p.Pro2343Thr)
c.6622C>A (p.Pro2208Thr)
c.5980C>A (p.Pro1994Thr)
c.3490C>A (p.Pro1164Thr)
 gnomAD v4
10g.71798491C>GCA377158087CDH23c.6967C>G (p.Pro2323Ala)
c.900C>G (n.900C>G)
c.564C>G (n.564C>G)
c.6982C>G (p.Pro2328Ala)
c.247C>G (p.Pro83Ala)
n.503C>G
c.7162C>G (p.Pro2388Ala)
c.7096C>G (p.Pro2366Ala)
c.7159C>G (p.Pro2387Ala)
c.7156C>G (p.Pro2386Ala)
c.7102C>G (p.Pro2368Ala)
c.7072C>G (p.Pro2358Ala)
c.7027C>G (p.Pro2343Ala)
c.6622C>G (p.Pro2208Ala)
c.5980C>G (p.Pro1994Ala)
c.3490C>G (p.Pro1164Ala)
10g.71798491C>TCA377158088CDH23c.6967C>T (p.Pro2323Ser)
c.900C>T (n.900C>T)
c.564C>T (n.564C>T)
c.6982C>T (p.Pro2328Ser)
c.247C>T (p.Pro83Ser)
n.503C>T
c.7162C>T (p.Pro2388Ser)
c.7096C>T (p.Pro2366Ser)
c.7159C>T (p.Pro2387Ser)
c.7156C>T (p.Pro2386Ser)
c.7102C>T (p.Pro2368Ser)
c.7072C>T (p.Pro2358Ser)
c.7027C>T (p.Pro2343Ser)
c.6622C>T (p.Pro2208Ser)
c.5980C>T (p.Pro1994Ser)
c.3490C>T (p.Pro1164Ser)
 gnomAD v4
10g.71798492C>ACA377158089CDH23c.6968C>A (p.Pro2323His)
c.901C>A (n.901C>A)
c.565C>A (n.565C>A)
c.6983C>A (p.Pro2328His)
c.248C>A (p.Pro83His)
n.504C>A
c.7163C>A (p.Pro2388His)
c.7097C>A (p.Pro2366His)
c.7160C>A (p.Pro2387His)
c.7157C>A (p.Pro2386His)
c.7103C>A (p.Pro2368His)
c.7073C>A (p.Pro2358His)
c.7028C>A (p.Pro2343His)
c.6623C>A (p.Pro2208His)
c.5981C>A (p.Pro1994His)
c.3491C>A (p.Pro1164His)
10g.71798492C>GCA377158090CDH23c.6968C>G (p.Pro2323Arg)
c.901C>G (n.901C>G)
c.565C>G (n.565C>G)
c.6983C>G (p.Pro2328Arg)
c.248C>G (p.Pro83Arg)
n.504C>G
c.7163C>G (p.Pro2388Arg)
c.7097C>G (p.Pro2366Arg)
c.7160C>G (p.Pro2387Arg)
c.7157C>G (p.Pro2386Arg)
c.7103C>G (p.Pro2368Arg)
c.7073C>G (p.Pro2358Arg)
c.7028C>G (p.Pro2343Arg)
c.6623C>G (p.Pro2208Arg)
c.5981C>G (p.Pro1994Arg)
c.3491C>G (p.Pro1164Arg)
10g.71798492C>TCA377158091CDH23c.6968C>T (p.Pro2323Leu)
c.901C>T (n.901C>T)
c.565C>T (n.565C>T)
c.6983C>T (p.Pro2328Leu)
c.248C>T (p.Pro83Leu)
n.504C>T
c.7163C>T (p.Pro2388Leu)
c.7097C>T (p.Pro2366Leu)
c.7160C>T (p.Pro2387Leu)
c.7157C>T (p.Pro2386Leu)
c.7103C>T (p.Pro2368Leu)
c.7073C>T (p.Pro2358Leu)
c.7028C>T (p.Pro2343Leu)
c.6623C>T (p.Pro2208Leu)
c.5981C>T (p.Pro1994Leu)
c.3491C>T (p.Pro1164Leu)
10g.71798493T>ACA470062075CDH23c.6969T>A (p.Pro2323=)
c.902T>A (n.902T>A)
c.566T>A (n.566T>A)
c.6984T>A (p.Pro2328=)
c.249T>A (p.Pro83=)
n.505T>A
c.7164T>A (p.Pro2388=)
c.7098T>A (p.Pro2366=)
c.7161T>A (p.Pro2387=)
c.7158T>A (p.Pro2386=)
c.7104T>A (p.Pro2368=)
c.7074T>A (p.Pro2358=)
c.7029T>A (p.Pro2343=)
c.6624T>A (p.Pro2208=)
c.5982T>A (p.Pro1994=)
c.3492T>A (p.Pro1164=)
10g.71798493T>CCA470062076CDH23c.6969T>C (p.Pro2323=)
c.902T>C (n.902T>C)
c.566T>C (n.566T>C)
c.6984T>C (p.Pro2328=)
c.249T>C (p.Pro83=)
n.505T>C
c.7164T>C (p.Pro2388=)
c.7098T>C (p.Pro2366=)
c.7161T>C (p.Pro2387=)
c.7158T>C (p.Pro2386=)
c.7104T>C (p.Pro2368=)
c.7074T>C (p.Pro2358=)
c.7029T>C (p.Pro2343=)
c.6624T>C (p.Pro2208=)
c.5982T>C (p.Pro1994=)
c.3492T>C (p.Pro1164=)
 dbSNP
10g.71798493T>GCA470062077CDH23c.6969T>G (p.Pro2323=)
c.902T>G (n.902T>G)
c.566T>G (n.566T>G)
c.6984T>G (p.Pro2328=)
c.249T>G (p.Pro83=)
n.505T>G
c.7164T>G (p.Pro2388=)
c.7098T>G (p.Pro2366=)
c.7161T>G (p.Pro2387=)
c.7158T>G (p.Pro2386=)
c.7104T>G (p.Pro2368=)
c.7074T>G (p.Pro2358=)
c.7029T>G (p.Pro2343=)
c.6624T>G (p.Pro2208=)
c.5982T>G (p.Pro1994=)
c.3492T>G (p.Pro1164=)
10g.71798493T=CA1918878471CDH23c.6969T= (p.Pro2323=)
c.902T= (n.902T=)
c.566T= (n.566T=)
c.6984T= (p.Pro2328=)
c.249T= (p.Pro83=)
n.505T=
c.7164T= (p.Pro2388=)
c.7098T= (p.Pro2366=)
c.7161T= (p.Pro2387=)
c.7158T= (p.Pro2386=)
c.7104T= (p.Pro2368=)
c.7074T= (p.Pro2358=)
c.7029T= (p.Pro2343=)
c.6624T= (p.Pro2208=)
c.5982T= (p.Pro1994=)
c.3492T= (p.Pro1164=)
10g.71798494G>ACA377158092CDH23c.6970G>A (p.Asp2324Asn)
c.903G>A (n.903G>A)
c.567G>A (n.567G>A)
c.6985G>A (p.Asp2329Asn)
c.250G>A (p.Asp84Asn)
n.506G>A
c.7165G>A (p.Asp2389Asn)
c.7099G>A (p.Asp2367Asn)
c.7162G>A (p.Asp2388Asn)
c.7159G>A (p.Asp2387Asn)
c.7105G>A (p.Asp2369Asn)
c.7075G>A (p.Asp2359Asn)
c.7030G>A (p.Asp2344Asn)
c.6625G>A (p.Asp2209Asn)
c.5983G>A (p.Asp1995Asn)
c.3493G>A (p.Asp1165Asn)
10g.71798494G>CCA377158093CDH23c.6970G>C (p.Asp2324His)
c.903G>C (n.903G>C)
c.567G>C (n.567G>C)
c.6985G>C (p.Asp2329His)
c.250G>C (p.Asp84His)
n.506G>C
c.7165G>C (p.Asp2389His)
c.7099G>C (p.Asp2367His)
c.7162G>C (p.Asp2388His)
c.7159G>C (p.Asp2387His)
c.7105G>C (p.Asp2369His)
c.7075G>C (p.Asp2359His)
c.7030G>C (p.Asp2344His)
c.6625G>C (p.Asp2209His)
c.5983G>C (p.Asp1995His)
c.3493G>C (p.Asp1165His)
10g.71798494G>TCA377158094CDH23c.6970G>T (p.Asp2324Tyr)
c.903G>T (n.903G>T)
c.567G>T (n.567G>T)
c.6985G>T (p.Asp2329Tyr)
c.250G>T (p.Asp84Tyr)
n.506G>T
c.7165G>T (p.Asp2389Tyr)
c.7099G>T (p.Asp2367Tyr)
c.7162G>T (p.Asp2388Tyr)
c.7159G>T (p.Asp2387Tyr)
c.7105G>T (p.Asp2369Tyr)
c.7075G>T (p.Asp2359Tyr)
c.7030G>T (p.Asp2344Tyr)
c.6625G>T (p.Asp2209Tyr)
c.5983G>T (p.Asp1995Tyr)
c.3493G>T (p.Asp1165Tyr)
10g.71798495A>CCA377158099CDH23c.6971A>C (p.Asp2324Ala)
c.904A>C (n.904A>C)
c.568A>C (n.568A>C)
c.6986A>C (p.Asp2329Ala)
c.251A>C (p.Asp84Ala)
n.507A>C
c.7166A>C (p.Asp2389Ala)
c.7100A>C (p.Asp2367Ala)
c.7163A>C (p.Asp2388Ala)
c.7160A>C (p.Asp2387Ala)
c.7106A>C (p.Asp2369Ala)
c.7076A>C (p.Asp2359Ala)
c.7031A>C (p.Asp2344Ala)
c.6626A>C (p.Asp2209Ala)
c.5984A>C (p.Asp1995Ala)
c.3494A>C (p.Asp1165Ala)
10g.71798495A>GCA377158098CDH23c.6971A>G (p.Asp2324Gly)
c.904A>G (n.904A>G)
c.568A>G (n.568A>G)
c.6986A>G (p.Asp2329Gly)
c.251A>G (p.Asp84Gly)
n.507A>G
c.7166A>G (p.Asp2389Gly)
c.7100A>G (p.Asp2367Gly)
c.7163A>G (p.Asp2388Gly)
c.7160A>G (p.Asp2387Gly)
c.7106A>G (p.Asp2369Gly)
c.7076A>G (p.Asp2359Gly)
c.7031A>G (p.Asp2344Gly)
c.6626A>G (p.Asp2209Gly)
c.5984A>G (p.Asp1995Gly)
c.3494A>G (p.Asp1165Gly)
 gnomAD v4
10g.71798495A>TCA377158096CDH23c.6971A>T (p.Asp2324Val)
c.904A>T (n.904A>T)
c.568A>T (n.568A>T)
c.6986A>T (p.Asp2329Val)
c.251A>T (p.Asp84Val)
n.507A>T
c.7166A>T (p.Asp2389Val)
c.7100A>T (p.Asp2367Val)
c.7163A>T (p.Asp2388Val)
c.7160A>T (p.Asp2387Val)
c.7106A>T (p.Asp2369Val)
c.7076A>T (p.Asp2359Val)
c.7031A>T (p.Asp2344Val)
c.6626A>T (p.Asp2209Val)
c.5984A>T (p.Asp1995Val)
c.3494A>T (p.Asp1165Val)
 dbSNP
10g.71798496C>ACA377158100CDH23c.6972C>A (p.Asp2324Glu)
c.905C>A (n.905C>A)
c.569C>A (n.569C>A)
c.6987C>A (p.Asp2329Glu)
c.252C>A (p.Asp84Glu)
n.508C>A
c.7167C>A (p.Asp2389Glu)
c.7101C>A (p.Asp2367Glu)
c.7164C>A (p.Asp2388Glu)
c.7161C>A (p.Asp2387Glu)
c.7107C>A (p.Asp2369Glu)
c.7077C>A (p.Asp2359Glu)
c.7032C>A (p.Asp2344Glu)
c.6627C>A (p.Asp2209Glu)
c.5985C>A (p.Asp1995Glu)
c.3495C>A (p.Asp1165Glu)
10g.71798496C>GCA377158102CDH23c.6972C>G (p.Asp2324Glu)
c.905C>G (n.905C>G)
c.569C>G (n.569C>G)
c.6987C>G (p.Asp2329Glu)
c.252C>G (p.Asp84Glu)
n.508C>G
c.7167C>G (p.Asp2389Glu)
c.7101C>G (p.Asp2367Glu)
c.7164C>G (p.Asp2388Glu)
c.7161C>G (p.Asp2387Glu)
c.7107C>G (p.Asp2369Glu)
c.7077C>G (p.Asp2359Glu)
c.7032C>G (p.Asp2344Glu)
c.6627C>G (p.Asp2209Glu)
c.5985C>G (p.Asp1995Glu)
c.3495C>G (p.Asp1165Glu)
10g.71798496C>TCA470062080CDH23c.6972C>T (p.Asp2324=)
c.905C>T (n.905C>T)
c.569C>T (n.569C>T)
c.6987C>T (p.Asp2329=)
c.252C>T (p.Asp84=)
n.508C>T
c.7167C>T (p.Asp2389=)
c.7101C>T (p.Asp2367=)
c.7164C>T (p.Asp2388=)
c.7161C>T (p.Asp2387=)
c.7107C>T (p.Asp2369=)
c.7077C>T (p.Asp2359=)
c.7032C>T (p.Asp2344=)
c.6627C>T (p.Asp2209=)
c.5985C>T (p.Asp1995=)
c.3495C>T (p.Asp1165=)
 gnomAD v4
10g.71798497A>CCA377158103CDH23c.6973A>C (p.Lys2325Gln)
c.906A>C (n.906A>C)
c.570A>C (n.570A>C)
c.6988A>C (p.Lys2330Gln)
c.253A>C (p.Lys85Gln)
n.509A>C
c.7168A>C (p.Lys2390Gln)
c.7102A>C (p.Lys2368Gln)
c.7165A>C (p.Lys2389Gln)
c.7162A>C (p.Lys2388Gln)
c.7108A>C (p.Lys2370Gln)
c.7078A>C (p.Lys2360Gln)
c.7033A>C (p.Lys2345Gln)
c.6628A>C (p.Lys2210Gln)
c.5986A>C (p.Lys1996Gln)
c.3496A>C (p.Lys1166Gln)
10g.71798497A>GCA377158105CDH23c.6973A>G (p.Lys2325Glu)
c.906A>G (n.906A>G)
c.570A>G (n.570A>G)
c.6988A>G (p.Lys2330Glu)
c.253A>G (p.Lys85Glu)
n.509A>G
c.7168A>G (p.Lys2390Glu)
c.7102A>G (p.Lys2368Glu)
c.7165A>G (p.Lys2389Glu)
c.7162A>G (p.Lys2388Glu)
c.7108A>G (p.Lys2370Glu)
c.7078A>G (p.Lys2360Glu)
c.7033A>G (p.Lys2345Glu)
c.6628A>G (p.Lys2210Glu)
c.5986A>G (p.Lys1996Glu)
c.3496A>G (p.Lys1166Glu)
10g.71798497A>TCA377158107CDH23c.6973A>T (p.Lys2325Ter)
c.906A>T (n.906A>T)
c.570A>T (n.570A>T)
c.6988A>T (p.Lys2330Ter)
c.253A>T (p.Lys85Ter)
n.509A>T
c.7168A>T (p.Lys2390Ter)
c.7102A>T (p.Lys2368Ter)
c.7165A>T (p.Lys2389Ter)
c.7162A>T (p.Lys2388Ter)
c.7108A>T (p.Lys2370Ter)
c.7078A>T (p.Lys2360Ter)
c.7033A>T (p.Lys2345Ter)
c.6628A>T (p.Lys2210Ter)
c.5986A>T (p.Lys1996Ter)
c.3496A>T (p.Lys1166Ter)
10g.71798498dupCA2580081848CDH23c.6974dup (p.Leu2327ProfsTer2)
c.907dup (n.907dup)
c.571dup (n.571dup)
c.6989dup (p.Leu2332ProfsTer2)
c.254dup (p.Leu87ProfsTer2)
n.510dup
c.7169dup (p.Leu2392ProfsTer2)
c.7103dup (p.Leu2370ProfsTer2)
c.7166dup (p.Leu2391ProfsTer2)
c.7163dup (p.Leu2390ProfsTer2)
c.7109dup (p.Leu2372ProfsTer2)
c.7079dup (p.Leu2362ProfsTer2)
c.7034dup (p.Leu2347ProfsTer2)
c.6629dup (p.Leu2212ProfsTer2)
c.5987dup (p.Leu1998ProfsTer2)
c.3497dup (p.Leu1168ProfsTer2)
 ClinVar
10g.71798498A>CCA377158108CDH23c.6974A>C (p.Lys2325Thr)
c.907A>C (n.907A>C)
c.571A>C (n.571A>C)
c.6989A>C (p.Lys2330Thr)
c.254A>C (p.Lys85Thr)
n.510A>C
c.7169A>C (p.Lys2390Thr)
c.7103A>C (p.Lys2368Thr)
c.7166A>C (p.Lys2389Thr)
c.7163A>C (p.Lys2388Thr)
c.7109A>C (p.Lys2370Thr)
c.7079A>C (p.Lys2360Thr)
c.7034A>C (p.Lys2345Thr)
c.6629A>C (p.Lys2210Thr)
c.5987A>C (p.Lys1996Thr)
c.3497A>C (p.Lys1166Thr)
10g.71798498A>GCA377158109CDH23c.6974A>G (p.Lys2325Arg)
c.907A>G (n.907A>G)
c.571A>G (n.571A>G)
c.6989A>G (p.Lys2330Arg)
c.254A>G (p.Lys85Arg)
n.510A>G
c.7169A>G (p.Lys2390Arg)
c.7103A>G (p.Lys2368Arg)
c.7166A>G (p.Lys2389Arg)
c.7163A>G (p.Lys2388Arg)
c.7109A>G (p.Lys2370Arg)
c.7079A>G (p.Lys2360Arg)
c.7034A>G (p.Lys2345Arg)
c.6629A>G (p.Lys2210Arg)
c.5987A>G (p.Lys1996Arg)
c.3497A>G (p.Lys1166Arg)
10g.71798498A>TCA377158110CDH23c.6974A>T (p.Lys2325Met)
c.907A>T (n.907A>T)
c.571A>T (n.571A>T)
c.6989A>T (p.Lys2330Met)
c.254A>T (p.Lys85Met)
n.510A>T
c.7169A>T (p.Lys2390Met)
c.7103A>T (p.Lys2368Met)
c.7166A>T (p.Lys2389Met)
c.7163A>T (p.Lys2388Met)
c.7109A>T (p.Lys2370Met)
c.7079A>T (p.Lys2360Met)
c.7034A>T (p.Lys2345Met)
c.6629A>T (p.Lys2210Met)
c.5987A>T (p.Lys1996Met)
c.3497A>T (p.Lys1166Met)
10g.71798499G>ACA470062082CDH23c.6975G>A (p.Lys2325=)
c.908G>A (n.908G>A)
c.572G>A (n.572G>A)
c.6990G>A (p.Lys2330=)
c.255G>A (p.Lys85=)
n.511G>A
c.7170G>A (p.Lys2390=)
c.7104G>A (p.Lys2368=)
c.7167G>A (p.Lys2389=)
c.7164G>A (p.Lys2388=)
c.7110G>A (p.Lys2370=)
c.7080G>A (p.Lys2360=)
c.7035G>A (p.Lys2345=)
c.6630G>A (p.Lys2210=)
c.5988G>A (p.Lys1996=)
c.3498G>A (p.Lys1166=)
 ClinVar dbSNP
10g.71798499G>CCA377158111CDH23c.6975G>C (p.Lys2325Asn)
c.908G>C (n.908G>C)
c.572G>C (n.572G>C)
c.6990G>C (p.Lys2330Asn)
c.255G>C (p.Lys85Asn)
n.511G>C
c.7170G>C (p.Lys2390Asn)
c.7104G>C (p.Lys2368Asn)
c.7167G>C (p.Lys2389Asn)
c.7164G>C (p.Lys2388Asn)
c.7110G>C (p.Lys2370Asn)
c.7080G>C (p.Lys2360Asn)
c.7035G>C (p.Lys2345Asn)
c.6630G>C (p.Lys2210Asn)
c.5988G>C (p.Lys1996Asn)
c.3498G>C (p.Lys1166Asn)
10g.71798499G>TCA377158113CDH23c.6975G>T (p.Lys2325Asn)
c.908G>T (n.908G>T)
c.572G>T (n.572G>T)
c.6990G>T (p.Lys2330Asn)
c.255G>T (p.Lys85Asn)
n.511G>T
c.7170G>T (p.Lys2390Asn)
c.7104G>T (p.Lys2368Asn)
c.7167G>T (p.Lys2389Asn)
c.7164G>T (p.Lys2388Asn)
c.7110G>T (p.Lys2370Asn)
c.7080G>T (p.Lys2360Asn)
c.7035G>T (p.Lys2345Asn)
c.6630G>T (p.Lys2210Asn)
c.5988G>T (p.Lys1996Asn)
c.3498G>T (p.Lys1166Asn)
10g.71798500G>ACA377158115CDH23c.6976G>A (p.Gly2326Ser)
c.909G>A (n.909G>A)
c.573G>A (n.573G>A)
c.6991G>A (p.Gly2331Ser)
c.256G>A (p.Gly86Ser)
n.512G>A
c.7171G>A (p.Gly2391Ser)
c.7105G>A (p.Gly2369Ser)
c.7168G>A (p.Gly2390Ser)
c.7165G>A (p.Gly2389Ser)
c.7111G>A (p.Gly2371Ser)
c.7081G>A (p.Gly2361Ser)
c.7036G>A (p.Gly2346Ser)
c.6631G>A (p.Gly2211Ser)
c.5989G>A (p.Gly1997Ser)
c.3499G>A (p.Gly1167Ser)
10g.71798500G>CCA377158116CDH23c.6976G>C (p.Gly2326Arg)
c.909G>C (n.909G>C)
c.573G>C (n.573G>C)
c.6991G>C (p.Gly2331Arg)
c.256G>C (p.Gly86Arg)
n.512G>C
c.7171G>C (p.Gly2391Arg)
c.7105G>C (p.Gly2369Arg)
c.7168G>C (p.Gly2390Arg)
c.7165G>C (p.Gly2389Arg)
c.7111G>C (p.Gly2371Arg)
c.7081G>C (p.Gly2361Arg)
c.7036G>C (p.Gly2346Arg)
c.6631G>C (p.Gly2211Arg)
c.5989G>C (p.Gly1997Arg)
c.3499G>C (p.Gly1167Arg)
10g.71798500G>TCA377158118CDH23c.6976G>T (p.Gly2326Cys)
c.909G>T (n.909G>T)
c.573G>T (n.573G>T)
c.6991G>T (p.Gly2331Cys)
c.256G>T (p.Gly86Cys)
n.512G>T
c.7171G>T (p.Gly2391Cys)
c.7105G>T (p.Gly2369Cys)
c.7168G>T (p.Gly2390Cys)
c.7165G>T (p.Gly2389Cys)
c.7111G>T (p.Gly2371Cys)
c.7081G>T (p.Gly2361Cys)
c.7036G>T (p.Gly2346Cys)
c.6631G>T (p.Gly2211Cys)
c.5989G>T (p.Gly1997Cys)
c.3499G>T (p.Gly1167Cys)
10g.71798501G>ACA377158121CDH23c.6977G>A (p.Gly2326Asp)
c.910G>A (n.910G>A)
c.574G>A (n.574G>A)
c.6992G>A (p.Gly2331Asp)
c.257G>A (p.Gly86Asp)
n.513G>A
c.7172G>A (p.Gly2391Asp)
c.7106G>A (p.Gly2369Asp)
c.7169G>A (p.Gly2390Asp)
c.7166G>A (p.Gly2389Asp)
c.7112G>A (p.Gly2371Asp)
c.7082G>A (p.Gly2361Asp)
c.7037G>A (p.Gly2346Asp)
c.6632G>A (p.Gly2211Asp)
c.5990G>A (p.Gly1997Asp)
c.3500G>A (p.Gly1167Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798501G>CCA377158126CDH23c.6977G>C (p.Gly2326Ala)
c.910G>C (n.910G>C)
c.574G>C (n.574G>C)
c.6992G>C (p.Gly2331Ala)
c.257G>C (p.Gly86Ala)
n.513G>C
c.7172G>C (p.Gly2391Ala)
c.7106G>C (p.Gly2369Ala)
c.7169G>C (p.Gly2390Ala)
c.7166G>C (p.Gly2389Ala)
c.7112G>C (p.Gly2371Ala)
c.7082G>C (p.Gly2361Ala)
c.7037G>C (p.Gly2346Ala)
c.6632G>C (p.Gly2211Ala)
c.5990G>C (p.Gly1997Ala)
c.3500G>C (p.Gly1167Ala)
10g.71798501G=CA1918878472CDH23c.6977G= (p.Gly2326=)
c.910G= (n.910G=)
c.574G= (n.574G=)
c.6992G= (p.Gly2331=)
c.257G= (p.Gly86=)
n.513G=
c.7172G= (p.Gly2391=)
c.7106G= (p.Gly2369=)
c.7169G= (p.Gly2390=)
c.7166G= (p.Gly2389=)
c.7112G= (p.Gly2371=)
c.7082G= (p.Gly2361=)
c.7037G= (p.Gly2346=)
c.6632G= (p.Gly2211=)
c.5990G= (p.Gly1997=)
c.3500G= (p.Gly1167=)
10g.71798501G>TCA377158119CDH23c.6977G>T (p.Gly2326Val)
c.910G>T (n.910G>T)
c.574G>T (n.574G>T)
c.6992G>T (p.Gly2331Val)
c.257G>T (p.Gly86Val)
n.513G>T
c.7172G>T (p.Gly2391Val)
c.7106G>T (p.Gly2369Val)
c.7169G>T (p.Gly2390Val)
c.7166G>T (p.Gly2389Val)
c.7112G>T (p.Gly2371Val)
c.7082G>T (p.Gly2361Val)
c.7037G>T (p.Gly2346Val)
c.6632G>T (p.Gly2211Val)
c.5990G>T (p.Gly1997Val)
c.3500G>T (p.Gly1167Val)
10g.71798502C>ACA470062083CDH23c.6978C>A (p.Gly2326=)
c.911C>A (n.911C>A)
c.575C>A (n.575C>A)
c.6993C>A (p.Gly2331=)
c.258C>A (p.Gly86=)
n.514C>A
c.7173C>A (p.Gly2391=)
c.7107C>A (p.Gly2369=)
c.7170C>A (p.Gly2390=)
c.7167C>A (p.Gly2389=)
c.7113C>A (p.Gly2371=)
c.7083C>A (p.Gly2361=)
c.7038C>A (p.Gly2346=)
c.6633C>A (p.Gly2211=)
c.5991C>A (p.Gly1997=)
c.3501C>A (p.Gly1167=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71798502C=CA1918878473CDH23c.6978C= (p.Gly2326=)
c.911C= (n.911C=)
c.575C= (n.575C=)
c.6993C= (p.Gly2331=)
c.258C= (p.Gly86=)
n.514C=
c.7173C= (p.Gly2391=)
c.7107C= (p.Gly2369=)
c.7170C= (p.Gly2390=)
c.7167C= (p.Gly2389=)
c.7113C= (p.Gly2371=)
c.7083C= (p.Gly2361=)
c.7038C= (p.Gly2346=)
c.6633C= (p.Gly2211=)
c.5991C= (p.Gly1997=)
c.3501C= (p.Gly1167=)
10g.71798502C>GCA470062084CDH23c.6978C>G (p.Gly2326=)
c.911C>G (n.911C>G)
c.575C>G (n.575C>G)
c.6993C>G (p.Gly2331=)
c.258C>G (p.Gly86=)
n.514C>G
c.7173C>G (p.Gly2391=)
c.7107C>G (p.Gly2369=)
c.7170C>G (p.Gly2390=)
c.7167C>G (p.Gly2389=)
c.7113C>G (p.Gly2371=)
c.7083C>G (p.Gly2361=)
c.7038C>G (p.Gly2346=)
c.6633C>G (p.Gly2211=)
c.5991C>G (p.Gly1997=)
c.3501C>G (p.Gly1167=)
10g.71798502C>TCA470062085CDH23c.6978C>T (p.Gly2326=)
c.911C>T (n.911C>T)
c.575C>T (n.575C>T)
c.6993C>T (p.Gly2331=)
c.258C>T (p.Gly86=)
n.514C>T
c.7173C>T (p.Gly2391=)
c.7107C>T (p.Gly2369=)
c.7170C>T (p.Gly2390=)
c.7167C>T (p.Gly2389=)
c.7113C>T (p.Gly2371=)
c.7083C>T (p.Gly2361=)
c.7038C>T (p.Gly2346=)
c.6633C>T (p.Gly2211=)
c.5991C>T (p.Gly1997=)
c.3501C>T (p.Gly1167=)
 ClinVar dbSNP gnomAD v4
10g.71798503C>ACA377158129CDH23c.6979C>A (p.Leu2327Ile)
c.912C>A (n.912C>A)
c.576C>A (n.576C>A)
c.6994C>A (p.Leu2332Ile)
c.259C>A (p.Leu87Ile)
n.515C>A
c.7174C>A (p.Leu2392Ile)
c.7108C>A (p.Leu2370Ile)
c.7171C>A (p.Leu2391Ile)
c.7168C>A (p.Leu2390Ile)
c.7114C>A (p.Leu2372Ile)
c.7084C>A (p.Leu2362Ile)
c.7039C>A (p.Leu2347Ile)
c.6634C>A (p.Leu2212Ile)
c.5992C>A (p.Leu1998Ile)
c.3502C>A (p.Leu1168Ile)
10g.71798503C=CA1918878474CDH23c.6979C= (p.Leu2327=)
c.912C= (n.912C=)
c.576C= (n.576C=)
c.6994C= (p.Leu2332=)
c.259C= (p.Leu87=)
n.515C=
c.7174C= (p.Leu2392=)
c.7108C= (p.Leu2370=)
c.7171C= (p.Leu2391=)
c.7168C= (p.Leu2390=)
c.7114C= (p.Leu2372=)
c.7084C= (p.Leu2362=)
c.7039C= (p.Leu2347=)
c.6634C= (p.Leu2212=)
c.5992C= (p.Leu1998=)
c.3502C= (p.Leu1168=)
10g.71798503C>GCA377158131CDH23c.6979C>G (p.Leu2327Val)
c.912C>G (n.912C>G)
c.576C>G (n.576C>G)
c.6994C>G (p.Leu2332Val)
c.259C>G (p.Leu87Val)
n.515C>G
c.7174C>G (p.Leu2392Val)
c.7108C>G (p.Leu2370Val)
c.7171C>G (p.Leu2391Val)
c.7168C>G (p.Leu2390Val)
c.7114C>G (p.Leu2372Val)
c.7084C>G (p.Leu2362Val)
c.7039C>G (p.Leu2347Val)
c.6634C>G (p.Leu2212Val)
c.5992C>G (p.Leu1998Val)
c.3502C>G (p.Leu1168Val)
10g.71798503C>TCA377158133CDH23c.6979C>T (p.Leu2327Phe)
c.912C>T (n.912C>T)
c.576C>T (n.576C>T)
c.6994C>T (p.Leu2332Phe)
c.259C>T (p.Leu87Phe)
n.515C>T
c.7174C>T (p.Leu2392Phe)
c.7108C>T (p.Leu2370Phe)
c.7171C>T (p.Leu2391Phe)
c.7168C>T (p.Leu2390Phe)
c.7114C>T (p.Leu2372Phe)
c.7084C>T (p.Leu2362Phe)
c.7039C>T (p.Leu2347Phe)
c.6634C>T (p.Leu2212Phe)
c.5992C>T (p.Leu1998Phe)
c.3502C>T (p.Leu1168Phe)
 dbSNP
10g.71798504T>ACA209469637CDH23c.6980T>A (p.Leu2327His)
c.913T>A (n.913T>A)
c.577T>A (n.577T>A)
c.6995T>A (p.Leu2332His)
c.260T>A (p.Leu87His)
n.516T>A
c.7175T>A (p.Leu2392His)
c.7109T>A (p.Leu2370His)
c.7172T>A (p.Leu2391His)
c.7169T>A (p.Leu2390His)
c.7115T>A (p.Leu2372His)
c.7085T>A (p.Leu2362His)
c.7040T>A (p.Leu2347His)
c.6635T>A (p.Leu2212His)
c.5993T>A (p.Leu1998His)
c.3503T>A (p.Leu1168His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798504T>CCA377158134CDH23c.6980T>C (p.Leu2327Pro)
c.913T>C (n.913T>C)
c.577T>C (n.577T>C)
c.6995T>C (p.Leu2332Pro)
c.260T>C (p.Leu87Pro)
n.516T>C
c.7175T>C (p.Leu2392Pro)
c.7109T>C (p.Leu2370Pro)
c.7172T>C (p.Leu2391Pro)
c.7169T>C (p.Leu2390Pro)
c.7115T>C (p.Leu2372Pro)
c.7085T>C (p.Leu2362Pro)
c.7040T>C (p.Leu2347Pro)
c.6635T>C (p.Leu2212Pro)
c.5993T>C (p.Leu1998Pro)
c.3503T>C (p.Leu1168Pro)
10g.71798504T>GCA377158136CDH23c.6980T>G (p.Leu2327Arg)
c.913T>G (n.913T>G)
c.577T>G (n.577T>G)
c.6995T>G (p.Leu2332Arg)
c.260T>G (p.Leu87Arg)
n.516T>G
c.7175T>G (p.Leu2392Arg)
c.7109T>G (p.Leu2370Arg)
c.7172T>G (p.Leu2391Arg)
c.7169T>G (p.Leu2390Arg)
c.7115T>G (p.Leu2372Arg)
c.7085T>G (p.Leu2362Arg)
c.7040T>G (p.Leu2347Arg)
c.6635T>G (p.Leu2212Arg)
c.5993T>G (p.Leu1998Arg)
c.3503T>G (p.Leu1168Arg)
 gnomAD v4
10g.71798504T=CA1918878475CDH23c.6980T= (p.Leu2327=)
c.913T= (n.913T=)
c.577T= (n.577T=)
c.6995T= (p.Leu2332=)
c.260T= (p.Leu87=)
n.516T=
c.7175T= (p.Leu2392=)
c.7109T= (p.Leu2370=)
c.7172T= (p.Leu2391=)
c.7169T= (p.Leu2390=)
c.7115T= (p.Leu2372=)
c.7085T= (p.Leu2362=)
c.7040T= (p.Leu2347=)
c.6635T= (p.Leu2212=)
c.5993T= (p.Leu1998=)
c.3503T= (p.Leu1168=)
10g.71798505T>ACA470062088CDH23c.6981T>A (p.Leu2327=)
c.914T>A (n.914T>A)
c.578T>A (n.578T>A)
c.6996T>A (p.Leu2332=)
c.261T>A (p.Leu87=)
n.517T>A
c.7176T>A (p.Leu2392=)
c.7110T>A (p.Leu2370=)
c.7173T>A (p.Leu2391=)
c.7170T>A (p.Leu2390=)
c.7116T>A (p.Leu2372=)
c.7086T>A (p.Leu2362=)
c.7041T>A (p.Leu2347=)
c.6636T>A (p.Leu2212=)
c.5994T>A (p.Leu1998=)
c.3504T>A (p.Leu1168=)
10g.71798505T>CCA470062087CDH23c.6981T>C (p.Leu2327=)
c.914T>C (n.914T>C)
c.578T>C (n.578T>C)
c.6996T>C (p.Leu2332=)
c.261T>C (p.Leu87=)
n.517T>C
c.7176T>C (p.Leu2392=)
c.7110T>C (p.Leu2370=)
c.7173T>C (p.Leu2391=)
c.7170T>C (p.Leu2390=)
c.7116T>C (p.Leu2372=)
c.7086T>C (p.Leu2362=)
c.7041T>C (p.Leu2347=)
c.6636T>C (p.Leu2212=)
c.5994T>C (p.Leu1998=)
c.3504T>C (p.Leu1168=)
10g.71798505T>GCA470062086CDH23c.6981T>G (p.Leu2327=)
c.914T>G (n.914T>G)
c.578T>G (n.578T>G)
c.6996T>G (p.Leu2332=)
c.261T>G (p.Leu87=)
n.517T>G
c.7176T>G (p.Leu2392=)
c.7110T>G (p.Leu2370=)
c.7173T>G (p.Leu2391=)
c.7170T>G (p.Leu2390=)
c.7116T>G (p.Leu2372=)
c.7086T>G (p.Leu2362=)
c.7041T>G (p.Leu2347=)
c.6636T>G (p.Leu2212=)
c.5994T>G (p.Leu1998=)
c.3504T>G (p.Leu1168=)
10g.71798506A=CA1918878476CDH23c.6982A= (p.Asn2328=)
c.915A= (n.915A=)
c.579A= (n.579A=)
c.6997A= (p.Asn2333=)
c.262A= (p.Asn88=)
n.518A=
c.7177A= (p.Asn2393=)
c.7111A= (p.Asn2371=)
c.7174A= (p.Asn2392=)
c.7171A= (p.Asn2391=)
c.7117A= (p.Asn2373=)
c.7087A= (p.Asn2363=)
c.7042A= (p.Asn2348=)
c.6637A= (p.Asn2213=)
c.5995A= (p.Asn1999=)
c.3505A= (p.Asn1169=)
10g.71798506A>CCA377158156CDH23c.6982A>C (p.Asn2328His)
c.915A>C (n.915A>C)
c.579A>C (n.579A>C)
c.6997A>C (p.Asn2333His)
c.262A>C (p.Asn88His)
n.518A>C
c.7177A>C (p.Asn2393His)
c.7111A>C (p.Asn2371His)
c.7174A>C (p.Asn2392His)
c.7171A>C (p.Asn2391His)
c.7117A>C (p.Asn2373His)
c.7087A>C (p.Asn2363His)
c.7042A>C (p.Asn2348His)
c.6637A>C (p.Asn2213His)
c.5995A>C (p.Asn1999His)
c.3505A>C (p.Asn1169His)
10g.71798506A>GCA377158142CDH23c.6982A>G (p.Asn2328Asp)
c.915A>G (n.915A>G)
c.579A>G (n.579A>G)
c.6997A>G (p.Asn2333Asp)
c.262A>G (p.Asn88Asp)
n.518A>G
c.7177A>G (p.Asn2393Asp)
c.7111A>G (p.Asn2371Asp)
c.7174A>G (p.Asn2392Asp)
c.7171A>G (p.Asn2391Asp)
c.7117A>G (p.Asn2373Asp)
c.7087A>G (p.Asn2363Asp)
c.7042A>G (p.Asn2348Asp)
c.6637A>G (p.Asn2213Asp)
c.5995A>G (p.Asn1999Asp)
c.3505A>G (p.Asn1169Asp)
 dbSNP gnomAD v4
10g.71798506A>TCA377158155CDH23c.6982A>T (p.Asn2328Tyr)
c.915A>T (n.915A>T)
c.579A>T (n.579A>T)
c.6997A>T (p.Asn2333Tyr)
c.262A>T (p.Asn88Tyr)
n.518A>T
c.7177A>T (p.Asn2393Tyr)
c.7111A>T (p.Asn2371Tyr)
c.7174A>T (p.Asn2392Tyr)
c.7171A>T (p.Asn2391Tyr)
c.7117A>T (p.Asn2373Tyr)
c.7087A>T (p.Asn2363Tyr)
c.7042A>T (p.Asn2348Tyr)
c.6637A>T (p.Asn2213Tyr)
c.5995A>T (p.Asn1999Tyr)
c.3505A>T (p.Asn1169Tyr)
10g.71798507A>CCA377158158CDH23c.6983A>C (p.Asn2328Thr)
c.916A>C (n.916A>C)
c.580A>C (n.580A>C)
c.6998A>C (p.Asn2333Thr)
c.263A>C (p.Asn88Thr)
n.519A>C
c.7178A>C (p.Asn2393Thr)
c.7112A>C (p.Asn2371Thr)
c.7175A>C (p.Asn2392Thr)
c.7172A>C (p.Asn2391Thr)
c.7118A>C (p.Asn2373Thr)
c.7088A>C (p.Asn2363Thr)
c.7043A>C (p.Asn2348Thr)
c.6638A>C (p.Asn2213Thr)
c.5996A>C (p.Asn1999Thr)
c.3506A>C (p.Asn1169Thr)
10g.71798507A>GCA377158160CDH23c.6983A>G (p.Asn2328Ser)
c.916A>G (n.916A>G)
c.580A>G (n.580A>G)
c.6998A>G (p.Asn2333Ser)
c.263A>G (p.Asn88Ser)
n.519A>G
c.7178A>G (p.Asn2393Ser)
c.7112A>G (p.Asn2371Ser)
c.7175A>G (p.Asn2392Ser)
c.7172A>G (p.Asn2391Ser)
c.7118A>G (p.Asn2373Ser)
c.7088A>G (p.Asn2363Ser)
c.7043A>G (p.Asn2348Ser)
c.6638A>G (p.Asn2213Ser)
c.5996A>G (p.Asn1999Ser)
c.3506A>G (p.Asn1169Ser)
10g.71798507A>TCA377158167CDH23c.6983A>T (p.Asn2328Ile)
c.916A>T (n.916A>T)
c.580A>T (n.580A>T)
c.6998A>T (p.Asn2333Ile)
c.263A>T (p.Asn88Ile)
n.519A>T
c.7178A>T (p.Asn2393Ile)
c.7112A>T (p.Asn2371Ile)
c.7175A>T (p.Asn2392Ile)
c.7172A>T (p.Asn2391Ile)
c.7118A>T (p.Asn2373Ile)
c.7088A>T (p.Asn2363Ile)
c.7043A>T (p.Asn2348Ile)
c.6638A>T (p.Asn2213Ile)
c.5996A>T (p.Asn1999Ile)
c.3506A>T (p.Asn1169Ile)
10g.71798508T>ACA377158169CDH23c.6984T>A (p.Asn2328Lys)
c.917T>A (n.917T>A)
c.581T>A (n.581T>A)
c.6999T>A (p.Asn2333Lys)
c.264T>A (p.Asn88Lys)
n.520T>A
c.7179T>A (p.Asn2393Lys)
c.7113T>A (p.Asn2371Lys)
c.7176T>A (p.Asn2392Lys)
c.7173T>A (p.Asn2391Lys)
c.7119T>A (p.Asn2373Lys)
c.7089T>A (p.Asn2363Lys)
c.7044T>A (p.Asn2348Lys)
c.6639T>A (p.Asn2213Lys)
c.5997T>A (p.Asn1999Lys)
c.3507T>A (p.Asn1169Lys)
10g.71798508T>CCA470062089CDH23c.6984T>C (p.Asn2328=)
c.917T>C (n.917T>C)
c.581T>C (n.581T>C)
c.6999T>C (p.Asn2333=)
c.264T>C (p.Asn88=)
n.520T>C
c.7179T>C (p.Asn2393=)
c.7113T>C (p.Asn2371=)
c.7176T>C (p.Asn2392=)
c.7173T>C (p.Asn2391=)
c.7119T>C (p.Asn2373=)
c.7089T>C (p.Asn2363=)
c.7044T>C (p.Asn2348=)
c.6639T>C (p.Asn2213=)
c.5997T>C (p.Asn1999=)
c.3507T>C (p.Asn1169=)
10g.71798508T>GCA377158170CDH23c.6984T>G (p.Asn2328Lys)
c.917T>G (n.917T>G)
c.581T>G (n.581T>G)
c.6999T>G (p.Asn2333Lys)
c.264T>G (p.Asn88Lys)
n.520T>G
c.7179T>G (p.Asn2393Lys)
c.7113T>G (p.Asn2371Lys)
c.7176T>G (p.Asn2392Lys)
c.7173T>G (p.Asn2391Lys)
c.7119T>G (p.Asn2373Lys)
c.7089T>G (p.Asn2363Lys)
c.7044T>G (p.Asn2348Lys)
c.6639T>G (p.Asn2213Lys)
c.5997T>G (p.Asn1999Lys)
c.3507T>G (p.Asn1169Lys)
10g.71798509G>ACA377158178CDH23c.6985G>A (p.Gly2329Arg)
c.918G>A (n.918G>A)
c.582G>A (n.582G>A)
c.7000G>A (p.Gly2334Arg)
c.265G>A (p.Gly89Arg)
n.521G>A
c.7180G>A (p.Gly2394Arg)
c.7114G>A (p.Gly2372Arg)
c.7177G>A (p.Gly2393Arg)
c.7174G>A (p.Gly2392Arg)
c.7120G>A (p.Gly2374Arg)
c.7090G>A (p.Gly2364Arg)
c.7045G>A (p.Gly2349Arg)
c.6640G>A (p.Gly2214Arg)
c.5998G>A (p.Gly2000Arg)
c.3508G>A (p.Gly1170Arg)
10g.71798509G>CCA377158173CDH23c.6985G>C (p.Gly2329Arg)
c.918G>C (n.918G>C)
c.582G>C (n.582G>C)
c.7000G>C (p.Gly2334Arg)
c.265G>C (p.Gly89Arg)
n.521G>C
c.7180G>C (p.Gly2394Arg)
c.7114G>C (p.Gly2372Arg)
c.7177G>C (p.Gly2393Arg)
c.7174G>C (p.Gly2392Arg)
c.7120G>C (p.Gly2374Arg)
c.7090G>C (p.Gly2364Arg)
c.7045G>C (p.Gly2349Arg)
c.6640G>C (p.Gly2214Arg)
c.5998G>C (p.Gly2000Arg)
c.3508G>C (p.Gly1170Arg)
10g.71798509G>TCA377158175CDH23c.6985G>T (p.Gly2329Trp)
c.918G>T (n.918G>T)
c.582G>T (n.582G>T)
c.7000G>T (p.Gly2334Trp)
c.265G>T (p.Gly89Trp)
n.521G>T
c.7180G>T (p.Gly2394Trp)
c.7114G>T (p.Gly2372Trp)
c.7177G>T (p.Gly2393Trp)
c.7174G>T (p.Gly2392Trp)
c.7120G>T (p.Gly2374Trp)
c.7090G>T (p.Gly2364Trp)
c.7045G>T (p.Gly2349Trp)
c.6640G>T (p.Gly2214Trp)
c.5998G>T (p.Gly2000Trp)
c.3508G>T (p.Gly1170Trp)
 gnomAD v4
10g.71798510G>ACA377158179CDH23c.6986G>A (p.Gly2329Glu)
c.919G>A (n.919G>A)
c.583G>A (n.583G>A)
c.7001G>A (p.Gly2334Glu)
c.266G>A (p.Gly89Glu)
n.522G>A
c.7181G>A (p.Gly2394Glu)
c.7115G>A (p.Gly2372Glu)
c.7178G>A (p.Gly2393Glu)
c.7175G>A (p.Gly2392Glu)
c.7121G>A (p.Gly2374Glu)
c.7091G>A (p.Gly2364Glu)
c.7046G>A (p.Gly2349Glu)
c.6641G>A (p.Gly2214Glu)
c.5999G>A (p.Gly2000Glu)
c.3509G>A (p.Gly1170Glu)
 ClinVar
10g.71798510G>CCA377158180CDH23c.6986G>C (p.Gly2329Ala)
c.919G>C (n.919G>C)
c.583G>C (n.583G>C)
c.7001G>C (p.Gly2334Ala)
c.266G>C (p.Gly89Ala)
n.522G>C
c.7181G>C (p.Gly2394Ala)
c.7115G>C (p.Gly2372Ala)
c.7178G>C (p.Gly2393Ala)
c.7175G>C (p.Gly2392Ala)
c.7121G>C (p.Gly2374Ala)
c.7091G>C (p.Gly2364Ala)
c.7046G>C (p.Gly2349Ala)
c.6641G>C (p.Gly2214Ala)
c.5999G>C (p.Gly2000Ala)
c.3509G>C (p.Gly1170Ala)
10g.71798510G>TCA377158181CDH23c.6986G>T (p.Gly2329Val)
c.919G>T (n.919G>T)
c.583G>T (n.583G>T)
c.7001G>T (p.Gly2334Val)
c.266G>T (p.Gly89Val)
n.522G>T
c.7181G>T (p.Gly2394Val)
c.7115G>T (p.Gly2372Val)
c.7178G>T (p.Gly2393Val)
c.7175G>T (p.Gly2392Val)
c.7121G>T (p.Gly2374Val)
c.7091G>T (p.Gly2364Val)
c.7046G>T (p.Gly2349Val)
c.6641G>T (p.Gly2214Val)
c.5999G>T (p.Gly2000Val)
c.3509G>T (p.Gly1170Val)
 gnomAD v4
10g.71798511G>ACA470062090CDH23c.6987G>A (p.Gly2329=)
c.920G>A (n.920G>A)
c.584G>A (n.584G>A)
c.7002G>A (p.Gly2334=)
c.267G>A (p.Gly89=)
n.523G>A
c.7182G>A (p.Gly2394=)
c.7116G>A (p.Gly2372=)
c.7179G>A (p.Gly2393=)
c.7176G>A (p.Gly2392=)
c.7122G>A (p.Gly2374=)
c.7092G>A (p.Gly2364=)
c.7047G>A (p.Gly2349=)
c.6642G>A (p.Gly2214=)
c.6000G>A (p.Gly2000=)
c.3510G>A (p.Gly1170=)
 ClinVar dbSNP gnomAD v4
10g.71798511G>CCA470062091CDH23c.6987G>C (p.Gly2329=)
c.920G>C (n.920G>C)
c.584G>C (n.584G>C)
c.7002G>C (p.Gly2334=)
c.267G>C (p.Gly89=)
n.523G>C
c.7182G>C (p.Gly2394=)
c.7116G>C (p.Gly2372=)
c.7179G>C (p.Gly2393=)
c.7176G>C (p.Gly2392=)
c.7122G>C (p.Gly2374=)
c.7092G>C (p.Gly2364=)
c.7047G>C (p.Gly2349=)
c.6642G>C (p.Gly2214=)
c.6000G>C (p.Gly2000=)
c.3510G>C (p.Gly1170=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798511G=CA1918878477CDH23c.6987G= (p.Gly2329=)
c.920G= (n.920G=)
c.584G= (n.584G=)
c.7002G= (p.Gly2334=)
c.267G= (p.Gly89=)
n.523G=
c.7182G= (p.Gly2394=)
c.7116G= (p.Gly2372=)
c.7179G= (p.Gly2393=)
c.7176G= (p.Gly2392=)
c.7122G= (p.Gly2374=)
c.7092G= (p.Gly2364=)
c.7047G= (p.Gly2349=)
c.6642G= (p.Gly2214=)
c.6000G= (p.Gly2000=)
c.3510G= (p.Gly1170=)
10g.71798511G>TCA470062092CDH23c.6987G>T (p.Gly2329=)
c.920G>T (n.920G>T)
c.584G>T (n.584G>T)
c.7002G>T (p.Gly2334=)
c.267G>T (p.Gly89=)
n.523G>T
c.7182G>T (p.Gly2394=)
c.7116G>T (p.Gly2372=)
c.7179G>T (p.Gly2393=)
c.7176G>T (p.Gly2392=)
c.7122G>T (p.Gly2374=)
c.7092G>T (p.Gly2364=)
c.7047G>T (p.Gly2349=)
c.6642G>T (p.Gly2214=)
c.6000G>T (p.Gly2000=)
c.3510G>T (p.Gly1170=)
 gnomAD v4
10g.71798512C>ACA377158182CDH23c.6988C>A (p.Leu2330Met)
c.921C>A (n.921C>A)
c.585C>A (n.585C>A)
c.7003C>A (p.Leu2335Met)
c.268C>A (p.Leu90Met)
n.524C>A
c.7183C>A (p.Leu2395Met)
c.7117C>A (p.Leu2373Met)
c.7180C>A (p.Leu2394Met)
c.7177C>A (p.Leu2393Met)
c.7123C>A (p.Leu2375Met)
c.7093C>A (p.Leu2365Met)
c.7048C>A (p.Leu2350Met)
c.6643C>A (p.Leu2215Met)
c.6001C>A (p.Leu2001Met)
c.3511C>A (p.Leu1171Met)
10g.71798512C=CA1918878478CDH23c.6988C= (p.Leu2330=)
c.921C= (n.921C=)
c.585C= (n.585C=)
c.7003C= (p.Leu2335=)
c.268C= (p.Leu90=)
n.524C=
c.7183C= (p.Leu2395=)
c.7117C= (p.Leu2373=)
c.7180C= (p.Leu2394=)
c.7177C= (p.Leu2393=)
c.7123C= (p.Leu2375=)
c.7093C= (p.Leu2365=)
c.7048C= (p.Leu2350=)
c.6643C= (p.Leu2215=)
c.6001C= (p.Leu2001=)
c.3511C= (p.Leu1171=)
10g.71798512C>GCA377158183CDH23c.6988C>G (p.Leu2330Val)
c.921C>G (n.921C>G)
c.585C>G (n.585C>G)
c.7003C>G (p.Leu2335Val)
c.268C>G (p.Leu90Val)
n.524C>G
c.7183C>G (p.Leu2395Val)
c.7117C>G (p.Leu2373Val)
c.7180C>G (p.Leu2394Val)
c.7177C>G (p.Leu2393Val)
c.7123C>G (p.Leu2375Val)
c.7093C>G (p.Leu2365Val)
c.7048C>G (p.Leu2350Val)
c.6643C>G (p.Leu2215Val)
c.6001C>G (p.Leu2001Val)
c.3511C>G (p.Leu1171Val)
10g.71798512C>TCA470062093CDH23c.6988C>T (p.Leu2330=)
c.921C>T (n.921C>T)
c.585C>T (n.585C>T)
c.7003C>T (p.Leu2335=)
c.268C>T (p.Leu90=)
n.524C>T
c.7183C>T (p.Leu2395=)
c.7117C>T (p.Leu2373=)
c.7180C>T (p.Leu2394=)
c.7177C>T (p.Leu2393=)
c.7123C>T (p.Leu2375=)
c.7093C>T (p.Leu2365=)
c.7048C>T (p.Leu2350=)
c.6643C>T (p.Leu2215=)
c.6001C>T (p.Leu2001=)
c.3511C>T (p.Leu1171=)
 dbSNP
10g.71798513T>ACA377158186CDH23c.6989T>A (p.Leu2330Gln)
c.922T>A (n.922T>A)
c.586T>A (n.586T>A)
c.7004T>A (p.Leu2335Gln)
c.269T>A (p.Leu90Gln)
n.525T>A
c.7184T>A (p.Leu2395Gln)
c.7118T>A (p.Leu2373Gln)
c.7181T>A (p.Leu2394Gln)
c.7178T>A (p.Leu2393Gln)
c.7124T>A (p.Leu2375Gln)
c.7094T>A (p.Leu2365Gln)
c.7049T>A (p.Leu2350Gln)
c.6644T>A (p.Leu2215Gln)
c.6002T>A (p.Leu2001Gln)
c.3512T>A (p.Leu1171Gln)
 dbSNP
10g.71798513T>CCA377158187CDH23c.6989T>C (p.Leu2330Pro)
c.922T>C (n.922T>C)
c.586T>C (n.586T>C)
c.7004T>C (p.Leu2335Pro)
c.269T>C (p.Leu90Pro)
n.525T>C
c.7184T>C (p.Leu2395Pro)
c.7118T>C (p.Leu2373Pro)
c.7181T>C (p.Leu2394Pro)
c.7178T>C (p.Leu2393Pro)
c.7124T>C (p.Leu2375Pro)
c.7094T>C (p.Leu2365Pro)
c.7049T>C (p.Leu2350Pro)
c.6644T>C (p.Leu2215Pro)
c.6002T>C (p.Leu2001Pro)
c.3512T>C (p.Leu1171Pro)
10g.71798513T>GCA377158188CDH23c.6989T>G (p.Leu2330Arg)
c.922T>G (n.922T>G)
c.586T>G (n.586T>G)
c.7004T>G (p.Leu2335Arg)
c.269T>G (p.Leu90Arg)
n.525T>G
c.7184T>G (p.Leu2395Arg)
c.7118T>G (p.Leu2373Arg)
c.7181T>G (p.Leu2394Arg)
c.7178T>G (p.Leu2393Arg)
c.7124T>G (p.Leu2375Arg)
c.7094T>G (p.Leu2365Arg)
c.7049T>G (p.Leu2350Arg)
c.6644T>G (p.Leu2215Arg)
c.6002T>G (p.Leu2001Arg)
c.3512T>G (p.Leu1171Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.71798513T=CA1918878479CDH23c.6989T= (p.Leu2330=)
c.922T= (n.922T=)
c.586T= (n.586T=)
c.7004T= (p.Leu2335=)
c.269T= (p.Leu90=)
n.525T=
c.7184T= (p.Leu2395=)
c.7118T= (p.Leu2373=)
c.7181T= (p.Leu2394=)
c.7178T= (p.Leu2393=)
c.7124T= (p.Leu2375=)
c.7094T= (p.Leu2365=)
c.7049T= (p.Leu2350=)
c.6644T= (p.Leu2215=)
c.6002T= (p.Leu2001=)
c.3512T= (p.Leu1171=)
10g.71798514G>ACA470062094CDH23c.6990G>A (p.Leu2330=)
c.923G>A (n.923G>A)
c.587G>A (n.587G>A)
c.7005G>A (p.Leu2335=)
c.270G>A (p.Leu90=)
n.526G>A
c.7185G>A (p.Leu2395=)
c.7119G>A (p.Leu2373=)
c.7182G>A (p.Leu2394=)
c.7179G>A (p.Leu2393=)
c.7125G>A (p.Leu2375=)
c.7095G>A (p.Leu2365=)
c.7050G>A (p.Leu2350=)
c.6645G>A (p.Leu2215=)
c.6003G>A (p.Leu2001=)
c.3513G>A (p.Leu1171=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798514G>CCA470062095CDH23c.6990G>C (p.Leu2330=)
c.923G>C (n.923G>C)
c.587G>C (n.587G>C)
c.7005G>C (p.Leu2335=)
c.270G>C (p.Leu90=)
n.526G>C
c.7185G>C (p.Leu2395=)
c.7119G>C (p.Leu2373=)
c.7182G>C (p.Leu2394=)
c.7179G>C (p.Leu2393=)
c.7125G>C (p.Leu2375=)
c.7095G>C (p.Leu2365=)
c.7050G>C (p.Leu2350=)
c.6645G>C (p.Leu2215=)
c.6003G>C (p.Leu2001=)
c.3513G>C (p.Leu1171=)
10g.71798514G=CA1918878480CDH23c.6990G= (p.Leu2330=)
c.923G= (n.923G=)
c.587G= (n.587G=)
c.7005G= (p.Leu2335=)
c.270G= (p.Leu90=)
n.526G=
c.7185G= (p.Leu2395=)
c.7119G= (p.Leu2373=)
c.7182G= (p.Leu2394=)
c.7179G= (p.Leu2393=)
c.7125G= (p.Leu2375=)
c.7095G= (p.Leu2365=)
c.7050G= (p.Leu2350=)
c.6645G= (p.Leu2215=)
c.6003G= (p.Leu2001=)
c.3513G= (p.Leu1171=)
10g.71798514G>TCA137558CDH23c.6990G>T (p.Leu2330=)
c.923G>T (n.923G>T)
c.587G>T (n.587G>T)
c.7005G>T (p.Leu2335=)
c.270G>T (p.Leu90=)
n.526G>T
c.7185G>T (p.Leu2395=)
c.7119G>T (p.Leu2373=)
c.7182G>T (p.Leu2394=)
c.7179G>T (p.Leu2393=)
c.7125G>T (p.Leu2375=)
c.7095G>T (p.Leu2365=)
c.7050G>T (p.Leu2350=)
c.6645G>T (p.Leu2215=)
c.6003G>T (p.Leu2001=)
c.3513G>T (p.Leu1171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798515G>ACA377158198CDH23c.6991G>A (p.Val2331Ile)
c.924G>A (n.924G>A)
c.588G>A (n.588G>A)
c.7006G>A (p.Val2336Ile)
c.271G>A (p.Val91Ile)
n.527G>A
c.7186G>A (p.Val2396Ile)
c.7120G>A (p.Val2374Ile)
c.7183G>A (p.Val2395Ile)
c.7180G>A (p.Val2394Ile)
c.7126G>A (p.Val2376Ile)
c.7096G>A (p.Val2366Ile)
c.7051G>A (p.Val2351Ile)
c.6646G>A (p.Val2216Ile)
c.6004G>A (p.Val2002Ile)
c.3514G>A (p.Val1172Ile)
 gnomAD v4
10g.71798515G>CCA377158200CDH23c.6991G>C (p.Val2331Leu)
c.924G>C (n.924G>C)
c.588G>C (n.588G>C)
c.7006G>C (p.Val2336Leu)
c.271G>C (p.Val91Leu)
n.527G>C
c.7186G>C (p.Val2396Leu)
c.7120G>C (p.Val2374Leu)
c.7183G>C (p.Val2395Leu)
c.7180G>C (p.Val2394Leu)
c.7126G>C (p.Val2376Leu)
c.7096G>C (p.Val2366Leu)
c.7051G>C (p.Val2351Leu)
c.6646G>C (p.Val2216Leu)
c.6004G>C (p.Val2002Leu)
c.3514G>C (p.Val1172Leu)
10g.71798515G>TCA377158204CDH23c.6991G>T (p.Val2331Phe)
c.924G>T (n.924G>T)
c.588G>T (n.588G>T)
c.7006G>T (p.Val2336Phe)
c.271G>T (p.Val91Phe)
n.527G>T
c.7186G>T (p.Val2396Phe)
c.7120G>T (p.Val2374Phe)
c.7183G>T (p.Val2395Phe)
c.7180G>T (p.Val2394Phe)
c.7126G>T (p.Val2376Phe)
c.7096G>T (p.Val2366Phe)
c.7051G>T (p.Val2351Phe)
c.6646G>T (p.Val2216Phe)
c.6004G>T (p.Val2002Phe)
c.3514G>T (p.Val1172Phe)
10g.71798516T>ACA377158207CDH23c.6992T>A (p.Val2331Asp)
c.925T>A (n.925T>A)
c.589T>A (n.589T>A)
c.7007T>A (p.Val2336Asp)
c.272T>A (p.Val91Asp)
n.528T>A
c.7187T>A (p.Val2396Asp)
c.7121T>A (p.Val2374Asp)
c.7184T>A (p.Val2395Asp)
c.7181T>A (p.Val2394Asp)
c.7127T>A (p.Val2376Asp)
c.7097T>A (p.Val2366Asp)
c.7052T>A (p.Val2351Asp)
c.6647T>A (p.Val2216Asp)
c.6005T>A (p.Val2002Asp)
c.3515T>A (p.Val1172Asp)
10g.71798516T>CCA377158216CDH23c.6992T>C (p.Val2331Ala)
c.925T>C (n.925T>C)
c.589T>C (n.589T>C)
c.7007T>C (p.Val2336Ala)
c.272T>C (p.Val91Ala)
n.528T>C
c.7187T>C (p.Val2396Ala)
c.7121T>C (p.Val2374Ala)
c.7184T>C (p.Val2395Ala)
c.7181T>C (p.Val2394Ala)
c.7127T>C (p.Val2376Ala)
c.7097T>C (p.Val2366Ala)
c.7052T>C (p.Val2351Ala)
c.6647T>C (p.Val2216Ala)
c.6005T>C (p.Val2002Ala)
c.3515T>C (p.Val1172Ala)
 ClinVar dbSNP
10g.71798516T>GCA377158210CDH23c.6992T>G (p.Val2331Gly)
c.925T>G (n.925T>G)
c.589T>G (n.589T>G)
c.7007T>G (p.Val2336Gly)
c.272T>G (p.Val91Gly)
n.528T>G
c.7187T>G (p.Val2396Gly)
c.7121T>G (p.Val2374Gly)
c.7184T>G (p.Val2395Gly)
c.7181T>G (p.Val2394Gly)
c.7127T>G (p.Val2376Gly)
c.7097T>G (p.Val2366Gly)
c.7052T>G (p.Val2351Gly)
c.6647T>G (p.Val2216Gly)
c.6005T>G (p.Val2002Gly)
c.3515T>G (p.Val1172Gly)
10g.71798517C>ACA470062098CDH23c.6993C>A (p.Val2331=)
c.926C>A (n.926C>A)
c.590C>A (n.590C>A)
c.7008C>A (p.Val2336=)
c.273C>A (p.Val91=)
n.529C>A
c.7188C>A (p.Val2396=)
c.7122C>A (p.Val2374=)
c.7185C>A (p.Val2395=)
c.7182C>A (p.Val2394=)
c.7128C>A (p.Val2376=)
c.7098C>A (p.Val2366=)
c.7053C>A (p.Val2351=)
c.6648C>A (p.Val2216=)
c.6006C>A (p.Val2002=)
c.3516C>A (p.Val1172=)
10g.71798517C=CA1918878481CDH23c.6993C= (p.Val2331=)
c.926C= (n.926C=)
c.590C= (n.590C=)
c.7008C= (p.Val2336=)
c.273C= (p.Val91=)
n.529C=
c.7188C= (p.Val2396=)
c.7122C= (p.Val2374=)
c.7185C= (p.Val2395=)
c.7182C= (p.Val2394=)
c.7128C= (p.Val2376=)
c.7098C= (p.Val2366=)
c.7053C= (p.Val2351=)
c.6648C= (p.Val2216=)
c.6006C= (p.Val2002=)
c.3516C= (p.Val1172=)
10g.71798517C>GCA5546228CDH23c.6993C>G (p.Val2331=)
c.926C>G (n.926C>G)
c.590C>G (n.590C>G)
c.7008C>G (p.Val2336=)
c.273C>G (p.Val91=)
n.529C>G
c.7188C>G (p.Val2396=)
c.7122C>G (p.Val2374=)
c.7185C>G (p.Val2395=)
c.7182C>G (p.Val2394=)
c.7128C>G (p.Val2376=)
c.7098C>G (p.Val2366=)
c.7053C>G (p.Val2351=)
c.6648C>G (p.Val2216=)
c.6006C>G (p.Val2002=)
c.3516C>G (p.Val1172=)
 ClinVar dbSNP ExAC gnomAD v4
10g.71798517C>TCA470062099CDH23c.6993C>T (p.Val2331=)
c.926C>T (n.926C>T)
c.590C>T (n.590C>T)
c.7008C>T (p.Val2336=)
c.273C>T (p.Val91=)
n.529C>T
c.7188C>T (p.Val2396=)
c.7122C>T (p.Val2374=)
c.7185C>T (p.Val2395=)
c.7182C>T (p.Val2394=)
c.7128C>T (p.Val2376=)
c.7098C>T (p.Val2366=)
c.7053C>T (p.Val2351=)
c.6648C>T (p.Val2216=)
c.6006C>T (p.Val2002=)
c.3516C>T (p.Val1172=)
10g.71798518A>CCA377158220CDH23c.6994A>C (p.Thr2332Pro)
c.927A>C (n.927A>C)
c.591A>C (n.591A>C)
c.7009A>C (p.Thr2337Pro)
c.274A>C (p.Thr92Pro)
n.530A>C
c.7189A>C (p.Thr2397Pro)
c.7123A>C (p.Thr2375Pro)
c.7186A>C (p.Thr2396Pro)
c.7183A>C (p.Thr2395Pro)
c.7129A>C (p.Thr2377Pro)
c.7099A>C (p.Thr2367Pro)
c.7054A>C (p.Thr2352Pro)
c.6649A>C (p.Thr2217Pro)
c.6007A>C (p.Thr2003Pro)
c.3517A>C (p.Thr1173Pro)
10g.71798518A>GCA377158223CDH23c.6994A>G (p.Thr2332Ala)
c.927A>G (n.927A>G)
c.591A>G (n.591A>G)
c.7009A>G (p.Thr2337Ala)
c.274A>G (p.Thr92Ala)
n.530A>G
c.7189A>G (p.Thr2397Ala)
c.7123A>G (p.Thr2375Ala)
c.7186A>G (p.Thr2396Ala)
c.7183A>G (p.Thr2395Ala)
c.7129A>G (p.Thr2377Ala)
c.7099A>G (p.Thr2367Ala)
c.7054A>G (p.Thr2352Ala)
c.6649A>G (p.Thr2217Ala)
c.6007A>G (p.Thr2003Ala)
c.3517A>G (p.Thr1173Ala)
10g.71798518A>TCA377158226CDH23c.6994A>T (p.Thr2332Ser)
c.927A>T (n.927A>T)
c.591A>T (n.591A>T)
c.7009A>T (p.Thr2337Ser)
c.274A>T (p.Thr92Ser)
n.530A>T
c.7189A>T (p.Thr2397Ser)
c.7123A>T (p.Thr2375Ser)
c.7186A>T (p.Thr2396Ser)
c.7183A>T (p.Thr2395Ser)
c.7129A>T (p.Thr2377Ser)
c.7099A>T (p.Thr2367Ser)
c.7054A>T (p.Thr2352Ser)
c.6649A>T (p.Thr2217Ser)
c.6007A>T (p.Thr2003Ser)
c.3517A>T (p.Thr1173Ser)
10g.71798519C>ACA377158230CDH23c.6995C>A (p.Thr2332Asn)
c.928C>A (n.928C>A)
c.592C>A (n.592C>A)
c.7010C>A (p.Thr2337Asn)
c.275C>A (p.Thr92Asn)
n.531C>A
c.7190C>A (p.Thr2397Asn)
c.7124C>A (p.Thr2375Asn)
c.7187C>A (p.Thr2396Asn)
c.7184C>A (p.Thr2395Asn)
c.7130C>A (p.Thr2377Asn)
c.7100C>A (p.Thr2367Asn)
c.7055C>A (p.Thr2352Asn)
c.6650C>A (p.Thr2217Asn)
c.6008C>A (p.Thr2003Asn)
c.3518C>A (p.Thr1173Asn)
10g.71798519C=CA1918878482CDH23c.6995C= (p.Thr2332=)
c.928C= (n.928C=)
c.592C= (n.592C=)
c.7010C= (p.Thr2337=)
c.275C= (p.Thr92=)
n.531C=
c.7190C= (p.Thr2397=)
c.7124C= (p.Thr2375=)
c.7187C= (p.Thr2396=)
c.7184C= (p.Thr2395=)
c.7130C= (p.Thr2377=)
c.7100C= (p.Thr2367=)
c.7055C= (p.Thr2352=)
c.6650C= (p.Thr2217=)
c.6008C= (p.Thr2003=)
c.3518C= (p.Thr1173=)
10g.71798519C>GCA377158235CDH23c.6995C>G (p.Thr2332Ser)
c.928C>G (n.928C>G)
c.592C>G (n.592C>G)
c.7010C>G (p.Thr2337Ser)
c.275C>G (p.Thr92Ser)
n.531C>G
c.7190C>G (p.Thr2397Ser)
c.7124C>G (p.Thr2375Ser)
c.7187C>G (p.Thr2396Ser)
c.7184C>G (p.Thr2395Ser)
c.7130C>G (p.Thr2377Ser)
c.7100C>G (p.Thr2367Ser)
c.7055C>G (p.Thr2352Ser)
c.6650C>G (p.Thr2217Ser)
c.6008C>G (p.Thr2003Ser)
c.3518C>G (p.Thr1173Ser)
10g.71798519C>TCA377158241CDH23c.6995C>T (p.Thr2332Ile)
c.928C>T (n.928C>T)
c.592C>T (n.592C>T)
c.7010C>T (p.Thr2337Ile)
c.275C>T (p.Thr92Ile)
n.531C>T
c.7190C>T (p.Thr2397Ile)
c.7124C>T (p.Thr2375Ile)
c.7187C>T (p.Thr2396Ile)
c.7184C>T (p.Thr2395Ile)
c.7130C>T (p.Thr2377Ile)
c.7100C>T (p.Thr2367Ile)
c.7055C>T (p.Thr2352Ile)
c.6650C>T (p.Thr2217Ile)
c.6008C>T (p.Thr2003Ile)
c.3518C>T (p.Thr1173Ile)
 dbSNP
10g.71798520C>ACA470062100CDH23c.6996C>A (p.Thr2332=)
c.929C>A (n.929C>A)
c.593C>A (n.593C>A)
c.7011C>A (p.Thr2337=)
c.276C>A (p.Thr92=)
n.532C>A
c.7191C>A (p.Thr2397=)
c.7125C>A (p.Thr2375=)
c.7188C>A (p.Thr2396=)
c.7185C>A (p.Thr2395=)
c.7131C>A (p.Thr2377=)
c.7101C>A (p.Thr2367=)
c.7056C>A (p.Thr2352=)
c.6651C>A (p.Thr2217=)
c.6009C>A (p.Thr2003=)
c.3519C>A (p.Thr1173=)
10g.71798520C>GCA470062102CDH23c.6996C>G (p.Thr2332=)
c.929C>G (n.929C>G)
c.593C>G (n.593C>G)
c.7011C>G (p.Thr2337=)
c.276C>G (p.Thr92=)
n.532C>G
c.7191C>G (p.Thr2397=)
c.7125C>G (p.Thr2375=)
c.7188C>G (p.Thr2396=)
c.7185C>G (p.Thr2395=)
c.7131C>G (p.Thr2377=)
c.7101C>G (p.Thr2367=)
c.7056C>G (p.Thr2352=)
c.6651C>G (p.Thr2217=)
c.6009C>G (p.Thr2003=)
c.3519C>G (p.Thr1173=)
10g.71798520C>TCA470062103CDH23c.6996C>T (p.Thr2332=)
c.929C>T (n.929C>T)
c.593C>T (n.593C>T)
c.7011C>T (p.Thr2337=)
c.276C>T (p.Thr92=)
n.532C>T
c.7191C>T (p.Thr2397=)
c.7125C>T (p.Thr2375=)
c.7188C>T (p.Thr2396=)
c.7185C>T (p.Thr2395=)
c.7131C>T (p.Thr2377=)
c.7101C>T (p.Thr2367=)
c.7056C>T (p.Thr2352=)
c.6651C>T (p.Thr2217=)
c.6009C>T (p.Thr2003=)
c.3519C>T (p.Thr1173=)
 gnomAD v4
10g.71798521T>ACA377158243CDH23c.6997T>A (p.Tyr2333Asn)
c.930T>A (n.930T>A)
c.594T>A (n.594T>A)
c.7012T>A (p.Tyr2338Asn)
c.277T>A (p.Tyr93Asn)
n.533T>A
c.7192T>A (p.Tyr2398Asn)
c.7126T>A (p.Tyr2376Asn)
c.7189T>A (p.Tyr2397Asn)
c.7186T>A (p.Tyr2396Asn)
c.7132T>A (p.Tyr2378Asn)
c.7102T>A (p.Tyr2368Asn)
c.7057T>A (p.Tyr2353Asn)
c.6652T>A (p.Tyr2218Asn)
c.6010T>A (p.Tyr2004Asn)
c.3520T>A (p.Tyr1174Asn)
10g.71798521T>CCA209469662CDH23c.6997T>C (p.Tyr2333His)
c.930T>C (n.930T>C)
c.594T>C (n.594T>C)
c.7012T>C (p.Tyr2338His)
c.277T>C (p.Tyr93His)
n.533T>C
c.7192T>C (p.Tyr2398His)
c.7126T>C (p.Tyr2376His)
c.7189T>C (p.Tyr2397His)
c.7186T>C (p.Tyr2396His)
c.7132T>C (p.Tyr2378His)
c.7102T>C (p.Tyr2368His)
c.7057T>C (p.Tyr2353His)
c.6652T>C (p.Tyr2218His)
c.6010T>C (p.Tyr2004His)
c.3520T>C (p.Tyr1174His)
 dbSNP
10g.71798521T>GCA377158247CDH23c.6997T>G (p.Tyr2333Asp)
c.930T>G (n.930T>G)
c.594T>G (n.594T>G)
c.7012T>G (p.Tyr2338Asp)
c.277T>G (p.Tyr93Asp)
n.533T>G
c.7192T>G (p.Tyr2398Asp)
c.7126T>G (p.Tyr2376Asp)
c.7189T>G (p.Tyr2397Asp)
c.7186T>G (p.Tyr2396Asp)
c.7132T>G (p.Tyr2378Asp)
c.7102T>G (p.Tyr2368Asp)
c.7057T>G (p.Tyr2353Asp)
c.6652T>G (p.Tyr2218Asp)
c.6010T>G (p.Tyr2004Asp)
c.3520T>G (p.Tyr1174Asp)
10g.71798521T=CA1918878483CDH23c.6997T= (p.Tyr2333=)
c.930T= (n.930T=)
c.594T= (n.594T=)
c.7012T= (p.Tyr2338=)
c.277T= (p.Tyr93=)
n.533T=
c.7192T= (p.Tyr2398=)
c.7126T= (p.Tyr2376=)
c.7189T= (p.Tyr2397=)
c.7186T= (p.Tyr2396=)
c.7132T= (p.Tyr2378=)
c.7102T= (p.Tyr2368=)
c.7057T= (p.Tyr2353=)
c.6652T= (p.Tyr2218=)
c.6010T= (p.Tyr2004=)
c.3520T= (p.Tyr1174=)
10g.71798522A>CCA377158249CDH23c.6998A>C (p.Tyr2333Ser)
c.931A>C (n.931A>C)
c.595A>C (n.595A>C)
c.7013A>C (p.Tyr2338Ser)
c.278A>C (p.Tyr93Ser)
n.534A>C
c.7193A>C (p.Tyr2398Ser)
c.7127A>C (p.Tyr2376Ser)
c.7190A>C (p.Tyr2397Ser)
c.7187A>C (p.Tyr2396Ser)
c.7133A>C (p.Tyr2378Ser)
c.7103A>C (p.Tyr2368Ser)
c.7058A>C (p.Tyr2353Ser)
c.6653A>C (p.Tyr2218Ser)
c.6011A>C (p.Tyr2004Ser)
c.3521A>C (p.Tyr1174Ser)
10g.71798522A>GCA377158250CDH23c.6998A>G (p.Tyr2333Cys)
c.931A>G (n.931A>G)
c.595A>G (n.595A>G)
c.7013A>G (p.Tyr2338Cys)
c.278A>G (p.Tyr93Cys)
n.534A>G
c.7193A>G (p.Tyr2398Cys)
c.7127A>G (p.Tyr2376Cys)
c.7190A>G (p.Tyr2397Cys)
c.7187A>G (p.Tyr2396Cys)
c.7133A>G (p.Tyr2378Cys)
c.7103A>G (p.Tyr2368Cys)
c.7058A>G (p.Tyr2353Cys)
c.6653A>G (p.Tyr2218Cys)
c.6011A>G (p.Tyr2004Cys)
c.3521A>G (p.Tyr1174Cys)
10g.71798522A>TCA377158251CDH23c.6998A>T (p.Tyr2333Phe)
c.931A>T (n.931A>T)
c.595A>T (n.595A>T)
c.7013A>T (p.Tyr2338Phe)
c.278A>T (p.Tyr93Phe)
n.534A>T
c.7193A>T (p.Tyr2398Phe)
c.7127A>T (p.Tyr2376Phe)
c.7190A>T (p.Tyr2397Phe)
c.7187A>T (p.Tyr2396Phe)
c.7133A>T (p.Tyr2378Phe)
c.7103A>T (p.Tyr2368Phe)
c.7058A>T (p.Tyr2353Phe)
c.6653A>T (p.Tyr2218Phe)
c.6011A>T (p.Tyr2004Phe)
c.3521A>T (p.Tyr1174Phe)
10g.71798523C>ACA377158252CDH23c.6999C>A (p.Tyr2333Ter)
c.932C>A (n.932C>A)
c.596C>A (n.596C>A)
c.7014C>A (p.Tyr2338Ter)
c.279C>A (p.Tyr93Ter)
n.535C>A
c.7194C>A (p.Tyr2398Ter)
c.7128C>A (p.Tyr2376Ter)
c.7191C>A (p.Tyr2397Ter)
c.7188C>A (p.Tyr2396Ter)
c.7134C>A (p.Tyr2378Ter)
c.7104C>A (p.Tyr2368Ter)
c.7059C>A (p.Tyr2353Ter)
c.6654C>A (p.Tyr2218Ter)
c.6012C>A (p.Tyr2004Ter)
c.3522C>A (p.Tyr1174Ter)
10g.71798523C=CA1918878484CDH23c.6999C= (p.Tyr2333=)
c.932C= (n.932C=)
c.596C= (n.596C=)
c.7014C= (p.Tyr2338=)
c.279C= (p.Tyr93=)
n.535C=
c.7194C= (p.Tyr2398=)
c.7128C= (p.Tyr2376=)
c.7191C= (p.Tyr2397=)
c.7188C= (p.Tyr2396=)
c.7134C= (p.Tyr2378=)
c.7104C= (p.Tyr2368=)
c.7059C= (p.Tyr2353=)
c.6654C= (p.Tyr2218=)
c.6012C= (p.Tyr2004=)
c.3522C= (p.Tyr1174=)
10g.71798523C>GCA377158253CDH23c.6999C>G (p.Tyr2333Ter)
c.932C>G (n.932C>G)
c.596C>G (n.596C>G)
c.7014C>G (p.Tyr2338Ter)
c.279C>G (p.Tyr93Ter)
n.535C>G
c.7194C>G (p.Tyr2398Ter)
c.7128C>G (p.Tyr2376Ter)
c.7191C>G (p.Tyr2397Ter)
c.7188C>G (p.Tyr2396Ter)
c.7134C>G (p.Tyr2378Ter)
c.7104C>G (p.Tyr2368Ter)
c.7059C>G (p.Tyr2353Ter)
c.6654C>G (p.Tyr2218Ter)
c.6012C>G (p.Tyr2004Ter)
c.3522C>G (p.Tyr1174Ter)
10g.71798523C>TCA209469663CDH23c.6999C>T (p.Tyr2333=)
c.932C>T (n.932C>T)
c.596C>T (n.596C>T)
c.7014C>T (p.Tyr2338=)
c.279C>T (p.Tyr93=)
n.535C>T
c.7194C>T (p.Tyr2398=)
c.7128C>T (p.Tyr2376=)
c.7191C>T (p.Tyr2397=)
c.7188C>T (p.Tyr2396=)
c.7134C>T (p.Tyr2378=)
c.7104C>T (p.Tyr2368=)
c.7059C>T (p.Tyr2353=)
c.6654C>T (p.Tyr2218=)
c.6012C>T (p.Tyr2004=)
c.3522C>T (p.Tyr1174=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798524A>CCA377158255CDH23c.7000A>C (p.Thr2334Pro)
c.933A>C (n.933A>C)
c.597A>C (n.597A>C)
c.7015A>C (p.Thr2339Pro)
c.280A>C (p.Thr94Pro)
n.536A>C
c.7195A>C (p.Thr2399Pro)
c.7129A>C (p.Thr2377Pro)
c.7192A>C (p.Thr2398Pro)
c.7189A>C (p.Thr2397Pro)
c.7135A>C (p.Thr2379Pro)
c.7105A>C (p.Thr2369Pro)
c.7060A>C (p.Thr2354Pro)
c.6655A>C (p.Thr2219Pro)
c.6013A>C (p.Thr2005Pro)
c.3523A>C (p.Thr1175Pro)
10g.71798524A>GCA377158263CDH23c.7000A>G (p.Thr2334Ala)
c.933A>G (n.933A>G)
c.597A>G (n.597A>G)
c.7015A>G (p.Thr2339Ala)
c.280A>G (p.Thr94Ala)
n.536A>G
c.7195A>G (p.Thr2399Ala)
c.7129A>G (p.Thr2377Ala)
c.7192A>G (p.Thr2398Ala)
c.7189A>G (p.Thr2397Ala)
c.7135A>G (p.Thr2379Ala)
c.7105A>G (p.Thr2369Ala)
c.7060A>G (p.Thr2354Ala)
c.6655A>G (p.Thr2219Ala)
c.6013A>G (p.Thr2005Ala)
c.3523A>G (p.Thr1175Ala)
10g.71798524A>TCA377158266CDH23c.7000A>T (p.Thr2334Ser)
c.933A>T (n.933A>T)
c.597A>T (n.597A>T)
c.7015A>T (p.Thr2339Ser)
c.280A>T (p.Thr94Ser)
n.536A>T
c.7195A>T (p.Thr2399Ser)
c.7129A>T (p.Thr2377Ser)
c.7192A>T (p.Thr2398Ser)
c.7189A>T (p.Thr2397Ser)
c.7135A>T (p.Thr2379Ser)
c.7105A>T (p.Thr2369Ser)
c.7060A>T (p.Thr2354Ser)
c.6655A>T (p.Thr2219Ser)
c.6013A>T (p.Thr2005Ser)
c.3523A>T (p.Thr1175Ser)
10g.71798524_71798525delinsACCA1918878485CDH23c.7000_7001delinsAC (p.Thr2334=)
c.933_934delinsAC (n.933_934delinsAC)
c.597_598delinsAC (n.597_598delinsAC)
c.7015_7016delinsAC (p.Thr2339=)
c.280_281delinsAC (p.Thr94=)
n.536_537delinsAC
c.7195_7196delinsAC (p.Thr2399=)
c.7129_7130delinsAC (p.Thr2377=)
c.7192_7193delinsAC (p.Thr2398=)
c.7189_7190delinsAC (p.Thr2397=)
c.7135_7136delinsAC (p.Thr2379=)
c.7105_7106delinsAC (p.Thr2369=)
c.7060_7061delinsAC (p.Thr2354=)
c.6655_6656delinsAC (p.Thr2219=)
c.6013_6014delinsAC (p.Thr2005=)
c.3523_3524delinsAC (p.Thr1175=)
10g.71798525C>ACA377158269CDH23c.7001C>A (p.Thr2334Asn)
c.934C>A (n.934C>A)
c.598C>A (n.598C>A)
c.7016C>A (p.Thr2339Asn)
c.281C>A (p.Thr94Asn)
n.537C>A
c.7196C>A (p.Thr2399Asn)
c.7130C>A (p.Thr2377Asn)
c.7193C>A (p.Thr2398Asn)
c.7190C>A (p.Thr2397Asn)
c.7136C>A (p.Thr2379Asn)
c.7106C>A (p.Thr2369Asn)
c.7061C>A (p.Thr2354Asn)
c.6656C>A (p.Thr2219Asn)
c.6014C>A (p.Thr2005Asn)
c.3524C>A (p.Thr1175Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.71798525C=CA1918878486CDH23c.7001C= (p.Thr2334=)
c.934C= (n.934C=)
c.598C= (n.598C=)
c.7016C= (p.Thr2339=)
c.281C= (p.Thr94=)
n.537C=
c.7196C= (p.Thr2399=)
c.7130C= (p.Thr2377=)
c.7193C= (p.Thr2398=)
c.7190C= (p.Thr2397=)
c.7136C= (p.Thr2379=)
c.7106C= (p.Thr2369=)
c.7061C= (p.Thr2354=)
c.6656C= (p.Thr2219=)
c.6014C= (p.Thr2005=)
c.3524C= (p.Thr1175=)
10g.71798525C>GCA377158272CDH23c.7001C>G (p.Thr2334Ser)
c.934C>G (n.934C>G)
c.598C>G (n.598C>G)
c.7016C>G (p.Thr2339Ser)
c.281C>G (p.Thr94Ser)
n.537C>G
c.7196C>G (p.Thr2399Ser)
c.7130C>G (p.Thr2377Ser)
c.7193C>G (p.Thr2398Ser)
c.7190C>G (p.Thr2397Ser)
c.7136C>G (p.Thr2379Ser)
c.7106C>G (p.Thr2369Ser)
c.7061C>G (p.Thr2354Ser)
c.6656C>G (p.Thr2219Ser)
c.6014C>G (p.Thr2005Ser)
c.3524C>G (p.Thr1175Ser)
10g.71798525C>TCA377158273CDH23c.7001C>T (p.Thr2334Ile)
c.934C>T (n.934C>T)
c.598C>T (n.598C>T)
c.7016C>T (p.Thr2339Ile)
c.281C>T (p.Thr94Ile)
n.537C>T
c.7196C>T (p.Thr2399Ile)
c.7130C>T (p.Thr2377Ile)
c.7193C>T (p.Thr2398Ile)
c.7190C>T (p.Thr2397Ile)
c.7136C>T (p.Thr2379Ile)
c.7106C>T (p.Thr2369Ile)
c.7061C>T (p.Thr2354Ile)
c.6656C>T (p.Thr2219Ile)
c.6014C>T (p.Thr2005Ile)
c.3524C>T (p.Thr1175Ile)
 ClinVar dbSNP gnomAD v4
10g.71798527delCA594706180CDH23c.7003del (p.Leu2335CysfsTer?)
c.936del (n.936del)
c.600del (n.600del)
c.7018del (p.Leu2340CysfsTer?)
c.283del (p.Leu95CysfsTer?)
n.539del
c.7198del (p.Leu2400CysfsTer?)
c.7132del (p.Leu2378CysfsTer?)
c.7195del (p.Leu2399CysfsTer?)
c.7192del (p.Leu2398CysfsTer?)
c.7138del (p.Leu2380CysfsTer?)
c.7108del (p.Leu2370CysfsTer?)
c.7063del (p.Leu2355CysfsTer?)
c.6658del (p.Leu2220CysfsTer?)
c.6016del (p.Leu2006CysfsTer?)
c.3526del (p.Leu1176CysfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798526C>ACA470062110CDH23c.7002C>A (p.Thr2334=)
c.935C>A (n.935C>A)
c.599C>A (n.599C>A)
c.7017C>A (p.Thr2339=)
c.282C>A (p.Thr94=)
n.538C>A
c.7197C>A (p.Thr2399=)
c.7131C>A (p.Thr2377=)
c.7194C>A (p.Thr2398=)
c.7191C>A (p.Thr2397=)
c.7137C>A (p.Thr2379=)
c.7107C>A (p.Thr2369=)
c.7062C>A (p.Thr2354=)
c.6657C>A (p.Thr2219=)
c.6015C>A (p.Thr2005=)
c.3525C>A (p.Thr1175=)
 dbSNP
10g.71798526C=CA1918878487CDH23c.7002C= (p.Thr2334=)
c.935C= (n.935C=)
c.599C= (n.599C=)
c.7017C= (p.Thr2339=)
c.282C= (p.Thr94=)
n.538C=
c.7197C= (p.Thr2399=)
c.7131C= (p.Thr2377=)
c.7194C= (p.Thr2398=)
c.7191C= (p.Thr2397=)
c.7137C= (p.Thr2379=)
c.7107C= (p.Thr2369=)
c.7062C= (p.Thr2354=)
c.6657C= (p.Thr2219=)
c.6015C= (p.Thr2005=)
c.3525C= (p.Thr1175=)
10g.71798526C>GCA470062108CDH23c.7002C>G (p.Thr2334=)
c.935C>G (n.935C>G)
c.599C>G (n.599C>G)
c.7017C>G (p.Thr2339=)
c.282C>G (p.Thr94=)
n.538C>G
c.7197C>G (p.Thr2399=)
c.7131C>G (p.Thr2377=)
c.7194C>G (p.Thr2398=)
c.7191C>G (p.Thr2397=)
c.7137C>G (p.Thr2379=)
c.7107C>G (p.Thr2369=)
c.7062C>G (p.Thr2354=)
c.6657C>G (p.Thr2219=)
c.6015C>G (p.Thr2005=)
c.3525C>G (p.Thr1175=)
10g.71798526C>TCA470062107CDH23c.7002C>T (p.Thr2334=)
c.935C>T (n.935C>T)
c.599C>T (n.599C>T)
c.7017C>T (p.Thr2339=)
c.282C>T (p.Thr94=)
n.538C>T
c.7197C>T (p.Thr2399=)
c.7131C>T (p.Thr2377=)
c.7194C>T (p.Thr2398=)
c.7191C>T (p.Thr2397=)
c.7137C>T (p.Thr2379=)
c.7107C>T (p.Thr2369=)
c.7062C>T (p.Thr2354=)
c.6657C>T (p.Thr2219=)
c.6015C>T (p.Thr2005=)
c.3525C>T (p.Thr1175=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798527C>ACA377158274CDH23c.7003C>A (p.Leu2335Met)
c.936C>A (n.936C>A)
c.600C>A (n.600C>A)
c.7018C>A (p.Leu2340Met)
c.283C>A (p.Leu95Met)
n.539C>A
c.7198C>A (p.Leu2400Met)
c.7132C>A (p.Leu2378Met)
c.7195C>A (p.Leu2399Met)
c.7192C>A (p.Leu2398Met)
c.7138C>A (p.Leu2380Met)
c.7108C>A (p.Leu2370Met)
c.7063C>A (p.Leu2355Met)
c.6658C>A (p.Leu2220Met)
c.6016C>A (p.Leu2006Met)
c.3526C>A (p.Leu1176Met)
 dbSNP
10g.71798527C=CA1918878488CDH23c.7003C= (p.Leu2335=)
c.936C= (n.936C=)
c.600C= (n.600C=)
c.7018C= (p.Leu2340=)
c.283C= (p.Leu95=)
n.539C=
c.7198C= (p.Leu2400=)
c.7132C= (p.Leu2378=)
c.7195C= (p.Leu2399=)
c.7192C= (p.Leu2398=)
c.7138C= (p.Leu2380=)
c.7108C= (p.Leu2370=)
c.7063C= (p.Leu2355=)
c.6658C= (p.Leu2220=)
c.6016C= (p.Leu2006=)
c.3526C= (p.Leu1176=)
10g.71798527C>GCA377158275CDH23c.7003C>G (p.Leu2335Val)
c.936C>G (n.936C>G)
c.600C>G (n.600C>G)
c.7018C>G (p.Leu2340Val)
c.283C>G (p.Leu95Val)
n.539C>G
c.7198C>G (p.Leu2400Val)
c.7132C>G (p.Leu2378Val)
c.7195C>G (p.Leu2399Val)
c.7192C>G (p.Leu2398Val)
c.7138C>G (p.Leu2380Val)
c.7108C>G (p.Leu2370Val)
c.7063C>G (p.Leu2355Val)
c.6658C>G (p.Leu2220Val)
c.6016C>G (p.Leu2006Val)
c.3526C>G (p.Leu1176Val)
10g.71798527C>TCA209469664CDH23c.7003C>T (p.Leu2335=)
c.936C>T (n.936C>T)
c.600C>T (n.600C>T)
c.7018C>T (p.Leu2340=)
c.283C>T (p.Leu95=)
n.539C>T
c.7198C>T (p.Leu2400=)
c.7132C>T (p.Leu2378=)
c.7195C>T (p.Leu2399=)
c.7192C>T (p.Leu2398=)
c.7138C>T (p.Leu2380=)
c.7108C>T (p.Leu2370=)
c.7063C>T (p.Leu2355=)
c.6658C>T (p.Leu2220=)
c.6016C>T (p.Leu2006=)
c.3526C>T (p.Leu1176=)
 ClinVar dbSNP
10g.71798528T>ACA377158278CDH23c.7004T>A (p.Leu2335Gln)
c.937T>A (n.937T>A)
c.601T>A (n.601T>A)
c.7019T>A (p.Leu2340Gln)
c.284T>A (p.Leu95Gln)
n.540T>A
c.7199T>A (p.Leu2400Gln)
c.7133T>A (p.Leu2378Gln)
c.7196T>A (p.Leu2399Gln)
c.7193T>A (p.Leu2398Gln)
c.7139T>A (p.Leu2380Gln)
c.7109T>A (p.Leu2370Gln)
c.7064T>A (p.Leu2355Gln)
c.6659T>A (p.Leu2220Gln)
c.6017T>A (p.Leu2006Gln)
c.3527T>A (p.Leu1176Gln)
10g.71798528T>CCA377158280CDH23c.7004T>C (p.Leu2335Pro)
c.937T>C (n.937T>C)
c.601T>C (n.601T>C)
c.7019T>C (p.Leu2340Pro)
c.284T>C (p.Leu95Pro)
n.540T>C
c.7199T>C (p.Leu2400Pro)
c.7133T>C (p.Leu2378Pro)
c.7196T>C (p.Leu2399Pro)
c.7193T>C (p.Leu2398Pro)
c.7139T>C (p.Leu2380Pro)
c.7109T>C (p.Leu2370Pro)
c.7064T>C (p.Leu2355Pro)
c.6659T>C (p.Leu2220Pro)
c.6017T>C (p.Leu2006Pro)
c.3527T>C (p.Leu1176Pro)
10g.71798528T>GCA377158282CDH23c.7004T>G (p.Leu2335Arg)
c.937T>G (n.937T>G)
c.601T>G (n.601T>G)
c.7019T>G (p.Leu2340Arg)
c.284T>G (p.Leu95Arg)
n.540T>G
c.7199T>G (p.Leu2400Arg)
c.7133T>G (p.Leu2378Arg)
c.7196T>G (p.Leu2399Arg)
c.7193T>G (p.Leu2398Arg)
c.7139T>G (p.Leu2380Arg)
c.7109T>G (p.Leu2370Arg)
c.7064T>G (p.Leu2355Arg)
c.6659T>G (p.Leu2220Arg)
c.6017T>G (p.Leu2006Arg)
c.3527T>G (p.Leu1176Arg)
10g.71798529G>ACA470062111CDH23c.7005G>A (p.Leu2335=)
c.938G>A (n.938G>A)
c.602G>A (n.602G>A)
c.7020G>A (p.Leu2340=)
c.285G>A (p.Leu95=)
n.541G>A
c.7200G>A (p.Leu2400=)
c.7134G>A (p.Leu2378=)
c.7197G>A (p.Leu2399=)
c.7194G>A (p.Leu2398=)
c.7140G>A (p.Leu2380=)
c.7110G>A (p.Leu2370=)
c.7065G>A (p.Leu2355=)
c.6660G>A (p.Leu2220=)
c.6018G>A (p.Leu2006=)
c.3528G>A (p.Leu1176=)
 ClinVar dbSNP gnomAD v4
10g.71798529G>CCA470062112CDH23c.7005G>C (p.Leu2335=)
c.938G>C (n.938G>C)
c.602G>C (n.602G>C)
c.7020G>C (p.Leu2340=)
c.285G>C (p.Leu95=)
n.541G>C
c.7200G>C (p.Leu2400=)
c.7134G>C (p.Leu2378=)
c.7197G>C (p.Leu2399=)
c.7194G>C (p.Leu2398=)
c.7140G>C (p.Leu2380=)
c.7110G>C (p.Leu2370=)
c.7065G>C (p.Leu2355=)
c.6660G>C (p.Leu2220=)
c.6018G>C (p.Leu2006=)
c.3528G>C (p.Leu1176=)
 gnomAD v4
10g.71798529G>TCA470062113CDH23c.7005G>T (p.Leu2335=)
c.938G>T (n.938G>T)
c.602G>T (n.602G>T)
c.7020G>T (p.Leu2340=)
c.285G>T (p.Leu95=)
n.541G>T
c.7200G>T (p.Leu2400=)
c.7134G>T (p.Leu2378=)
c.7197G>T (p.Leu2399=)
c.7194G>T (p.Leu2398=)
c.7140G>T (p.Leu2380=)
c.7110G>T (p.Leu2370=)
c.7065G>T (p.Leu2355=)
c.6660G>T (p.Leu2220=)
c.6018G>T (p.Leu2006=)
c.3528G>T (p.Leu1176=)
10g.71798530C>ACA377158284CDH23c.7006C>A (p.Leu2336Met)
c.939C>A (n.939C>A)
c.603C>A (n.603C>A)
c.7021C>A (p.Leu2341Met)
c.286C>A (p.Leu96Met)
n.542C>A
c.7201C>A (p.Leu2401Met)
c.7135C>A (p.Leu2379Met)
c.7198C>A (p.Leu2400Met)
c.7195C>A (p.Leu2399Met)
c.7141C>A (p.Leu2381Met)
c.7111C>A (p.Leu2371Met)
c.7066C>A (p.Leu2356Met)
c.6661C>A (p.Leu2221Met)
c.6019C>A (p.Leu2007Met)
c.3529C>A (p.Leu1177Met)
 ClinVar dbSNP gnomAD v4
10g.71798530C=CA1918878489CDH23c.7006C= (p.Leu2336=)
c.939C= (n.939C=)
c.603C= (n.603C=)
c.7021C= (p.Leu2341=)
c.286C= (p.Leu96=)
n.542C=
c.7201C= (p.Leu2401=)
c.7135C= (p.Leu2379=)
c.7198C= (p.Leu2400=)
c.7195C= (p.Leu2399=)
c.7141C= (p.Leu2381=)
c.7111C= (p.Leu2371=)
c.7066C= (p.Leu2356=)
c.6661C= (p.Leu2221=)
c.6019C= (p.Leu2007=)
c.3529C= (p.Leu1177=)
10g.71798530C>GCA377158283CDH23c.7006C>G (p.Leu2336Val)
c.939C>G (n.939C>G)
c.603C>G (n.603C>G)
c.7021C>G (p.Leu2341Val)
c.286C>G (p.Leu96Val)
n.542C>G
c.7201C>G (p.Leu2401Val)
c.7135C>G (p.Leu2379Val)
c.7198C>G (p.Leu2400Val)
c.7195C>G (p.Leu2399Val)
c.7141C>G (p.Leu2381Val)
c.7111C>G (p.Leu2371Val)
c.7066C>G (p.Leu2356Val)
c.6661C>G (p.Leu2221Val)
c.6019C>G (p.Leu2007Val)
c.3529C>G (p.Leu1177Val)
 gnomAD v4
10g.71798530C>TCA470062114CDH23c.7006C>T (p.Leu2336=)
c.939C>T (n.939C>T)
c.603C>T (n.603C>T)
c.7021C>T (p.Leu2341=)
c.286C>T (p.Leu96=)
n.542C>T
c.7201C>T (p.Leu2401=)
c.7135C>T (p.Leu2379=)
c.7198C>T (p.Leu2400=)
c.7195C>T (p.Leu2399=)
c.7141C>T (p.Leu2381=)
c.7111C>T (p.Leu2371=)
c.7066C>T (p.Leu2356=)
c.6661C>T (p.Leu2221=)
c.6019C>T (p.Leu2007=)
c.3529C>T (p.Leu1177=)
 dbSNP
10g.71798531T>ACA377158294CDH23c.7007T>A (p.Leu2336Gln)
c.940T>A (n.940T>A)
c.604T>A (n.604T>A)
c.7022T>A (p.Leu2341Gln)
c.287T>A (p.Leu96Gln)
n.543T>A
c.7202T>A (p.Leu2401Gln)
c.7136T>A (p.Leu2379Gln)
c.7199T>A (p.Leu2400Gln)
c.7196T>A (p.Leu2399Gln)
c.7142T>A (p.Leu2381Gln)
c.7112T>A (p.Leu2371Gln)
c.7067T>A (p.Leu2356Gln)
c.6662T>A (p.Leu2221Gln)
c.6020T>A (p.Leu2007Gln)
c.3530T>A (p.Leu1177Gln)
10g.71798531T>CCA377158300CDH23c.7007T>C (p.Leu2336Pro)
c.940T>C (n.940T>C)
c.604T>C (n.604T>C)
c.7022T>C (p.Leu2341Pro)
c.287T>C (p.Leu96Pro)
n.543T>C
c.7202T>C (p.Leu2401Pro)
c.7136T>C (p.Leu2379Pro)
c.7199T>C (p.Leu2400Pro)
c.7196T>C (p.Leu2399Pro)
c.7142T>C (p.Leu2381Pro)
c.7112T>C (p.Leu2371Pro)
c.7067T>C (p.Leu2356Pro)
c.6662T>C (p.Leu2221Pro)
c.6020T>C (p.Leu2007Pro)
c.3530T>C (p.Leu1177Pro)
 dbSNP
10g.71798531T>GCA377158296CDH23c.7007T>G (p.Leu2336Arg)
c.940T>G (n.940T>G)
c.604T>G (n.604T>G)
c.7022T>G (p.Leu2341Arg)
c.287T>G (p.Leu96Arg)
n.543T>G
c.7202T>G (p.Leu2401Arg)
c.7136T>G (p.Leu2379Arg)
c.7199T>G (p.Leu2400Arg)
c.7196T>G (p.Leu2399Arg)
c.7142T>G (p.Leu2381Arg)
c.7112T>G (p.Leu2371Arg)
c.7067T>G (p.Leu2356Arg)
c.6662T>G (p.Leu2221Arg)
c.6020T>G (p.Leu2007Arg)
c.3530T>G (p.Leu1177Arg)
10g.71798531T=CA1918878490CDH23c.7007T= (p.Leu2336=)
c.940T= (n.940T=)
c.604T= (n.604T=)
c.7022T= (p.Leu2341=)
c.287T= (p.Leu96=)
n.543T=
c.7202T= (p.Leu2401=)
c.7136T= (p.Leu2379=)
c.7199T= (p.Leu2400=)
c.7196T= (p.Leu2399=)
c.7142T= (p.Leu2381=)
c.7112T= (p.Leu2371=)
c.7067T= (p.Leu2356=)
c.6662T= (p.Leu2221=)
c.6020T= (p.Leu2007=)
c.3530T= (p.Leu1177=)
10g.71798532G>ACA470062117CDH23c.7008G>A (p.Leu2336=)
c.941G>A (n.941G>A)
c.605G>A (n.605G>A)
c.7023G>A (p.Leu2341=)
c.288G>A (p.Leu96=)
n.544G>A
c.7203G>A (p.Leu2401=)
c.7137G>A (p.Leu2379=)
c.7200G>A (p.Leu2400=)
c.7197G>A (p.Leu2399=)
c.7143G>A (p.Leu2381=)
c.7113G>A (p.Leu2371=)
c.7068G>A (p.Leu2356=)
c.6663G>A (p.Leu2221=)
c.6021G>A (p.Leu2007=)
c.3531G>A (p.Leu1177=)
10g.71798532G>CCA470062119CDH23c.7008G>C (p.Leu2336=)
c.941G>C (n.941G>C)
c.605G>C (n.605G>C)
c.7023G>C (p.Leu2341=)
c.288G>C (p.Leu96=)
n.544G>C
c.7203G>C (p.Leu2401=)
c.7137G>C (p.Leu2379=)
c.7200G>C (p.Leu2400=)
c.7197G>C (p.Leu2399=)
c.7143G>C (p.Leu2381=)
c.7113G>C (p.Leu2371=)
c.7068G>C (p.Leu2356=)
c.6663G>C (p.Leu2221=)
c.6021G>C (p.Leu2007=)
c.3531G>C (p.Leu1177=)
 gnomAD v4
10g.71798532G>TCA470062118CDH23c.7008G>T (p.Leu2336=)
c.941G>T (n.941G>T)
c.605G>T (n.605G>T)
c.7023G>T (p.Leu2341=)
c.288G>T (p.Leu96=)
n.544G>T
c.7203G>T (p.Leu2401=)
c.7137G>T (p.Leu2379=)
c.7200G>T (p.Leu2400=)
c.7197G>T (p.Leu2399=)
c.7143G>T (p.Leu2381=)
c.7113G>T (p.Leu2371=)
c.7068G>T (p.Leu2356=)
c.6663G>T (p.Leu2221=)
c.6021G>T (p.Leu2007=)
c.3531G>T (p.Leu1177=)
 COSMIC
10g.71798533delCA2722286378CDH23c.7009del (p.Asp2337ThrfsTer?)
c.942del (n.942del)
c.606del (n.606del)
c.7024del (p.Asp2342ThrfsTer?)
c.289del (p.Asp97ThrfsTer?)
n.545del
c.7204del (p.Asp2402ThrfsTer?)
c.7138del (p.Asp2380ThrfsTer?)
c.7201del (p.Asp2401ThrfsTer?)
c.7198del (p.Asp2400ThrfsTer?)
c.7144del (p.Asp2382ThrfsTer?)
c.7114del (p.Asp2372ThrfsTer?)
c.7069del (p.Asp2357ThrfsTer?)
c.6664del (p.Asp2222ThrfsTer?)
c.6022del (p.Asp2008ThrfsTer?)
c.3532del (p.Asp1178ThrfsTer?)
 dbSNP

Number of alleles fetched