Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71706856C>ACA2609546180CDH23c.2954-41C>A (n.2954-41C>A)
c.2385-41C>A
c.2969-41C>A (n.2969-41C>A)
c.1729-41C>A
c.3149-41C>A (n.3149-41C>A)
c.3083-41C>A (n.3083-41C>A)
c.3143-41C>A (n.3143-41C>A)
c.3089-41C>A (n.3089-41C>A)
c.3014-41C>A (n.3014-41C>A)
c.2609-41C>A (n.2609-41C>A)
c.1967-41C>A (n.1967-41C>A)
n.3392-41C>A
n.82+2150G>T
 gnomAD v4
10g.71706856C=CA1918837865CDH23c.2954-41C= (n.2954-41C=)
c.2385-41C=
c.2969-41C= (n.2969-41C=)
c.1729-41C=
c.3149-41C= (n.3149-41C=)
c.3083-41C= (n.3083-41C=)
c.3143-41C= (n.3143-41C=)
c.3089-41C= (n.3089-41C=)
c.3014-41C= (n.3014-41C=)
c.2609-41C= (n.2609-41C=)
c.1967-41C= (n.1967-41C=)
n.3392-41C=
n.82+2150G=
10g.71706856C>TCA1918837866CDH23c.2954-41C>T (n.2954-41C>T)
c.2385-41C>T
c.2969-41C>T (n.2969-41C>T)
c.1729-41C>T
c.3149-41C>T (n.3149-41C>T)
c.3083-41C>T (n.3083-41C>T)
c.3143-41C>T (n.3143-41C>T)
c.3089-41C>T (n.3089-41C>T)
c.3014-41C>T (n.3014-41C>T)
c.2609-41C>T (n.2609-41C>T)
c.1967-41C>T (n.1967-41C>T)
n.3392-41C>T
n.82+2150G>A
 dbSNP gnomAD v4
10g.71706858delCA2788462776CDH23c.2954-39del (n.2954-39del)
c.2385-39del
c.2969-39del (n.2969-39del)
c.1729-39del
c.3149-39del (n.3149-39del)
c.3083-39del (n.3083-39del)
c.3143-39del (n.3143-39del)
c.3089-39del (n.3089-39del)
c.3014-39del (n.3014-39del)
c.2609-39del (n.2609-39del)
c.1967-39del (n.1967-39del)
n.3392-39del
n.82+2148del
10g.71706859A>GCA2609546184CDH23c.2954-38A>G (n.2954-38A>G)
c.2385-38A>G
c.2969-38A>G (n.2969-38A>G)
c.1729-38A>G
c.3149-38A>G (n.3149-38A>G)
c.3083-38A>G (n.3083-38A>G)
c.3143-38A>G (n.3143-38A>G)
c.3089-38A>G (n.3089-38A>G)
c.3014-38A>G (n.3014-38A>G)
c.2609-38A>G (n.2609-38A>G)
c.1967-38A>G (n.1967-38A>G)
n.3392-38A>G
n.82+2147T>C
 gnomAD v4
10g.71706861G>ACA594320018CDH23c.2954-36G>A (n.2954-36G>A)
c.2385-36G>A
c.2969-36G>A (n.2969-36G>A)
c.1729-36G>A
c.3149-36G>A (n.3149-36G>A)
c.3083-36G>A (n.3083-36G>A)
c.3143-36G>A (n.3143-36G>A)
c.3089-36G>A (n.3089-36G>A)
c.3014-36G>A (n.3014-36G>A)
c.2609-36G>A (n.2609-36G>A)
c.1967-36G>A (n.1967-36G>A)
n.3392-36G>A
n.82+2145C>T
 dbSNP gnomAD v2
10g.71706861G=CA1918837867CDH23c.2954-36G= (n.2954-36G=)
c.2385-36G=
c.2969-36G= (n.2969-36G=)
c.1729-36G=
c.3149-36G= (n.3149-36G=)
c.3083-36G= (n.3083-36G=)
c.3143-36G= (n.3143-36G=)
c.3089-36G= (n.3089-36G=)
c.3014-36G= (n.3014-36G=)
c.2609-36G= (n.2609-36G=)
c.1967-36G= (n.1967-36G=)
n.3392-36G=
n.82+2145C=
10g.71706861G>TCA2609546187CDH23c.2954-36G>T (n.2954-36G>T)
c.2385-36G>T
c.2969-36G>T (n.2969-36G>T)
c.1729-36G>T
c.3149-36G>T (n.3149-36G>T)
c.3083-36G>T (n.3083-36G>T)
c.3143-36G>T (n.3143-36G>T)
c.3089-36G>T (n.3089-36G>T)
c.3014-36G>T (n.3014-36G>T)
c.2609-36G>T (n.2609-36G>T)
c.1967-36G>T (n.1967-36G>T)
n.3392-36G>T
n.82+2145C>A
 gnomAD v4
10g.71706862C>ACA2609546190CDH23c.2954-35C>A (n.2954-35C>A)
c.2385-35C>A
c.2969-35C>A (n.2969-35C>A)
c.1729-35C>A
c.3149-35C>A (n.3149-35C>A)
c.3083-35C>A (n.3083-35C>A)
c.3143-35C>A (n.3143-35C>A)
c.3089-35C>A (n.3089-35C>A)
c.3014-35C>A (n.3014-35C>A)
c.2609-35C>A (n.2609-35C>A)
c.1967-35C>A (n.1967-35C>A)
n.3392-35C>A
n.82+2144G>T
 gnomAD v4
10g.71706862C=CA1918837870CDH23c.2954-35C= (n.2954-35C=)
c.2385-35C=
c.2969-35C= (n.2969-35C=)
c.1729-35C=
c.3149-35C= (n.3149-35C=)
c.3083-35C= (n.3083-35C=)
c.3143-35C= (n.3143-35C=)
c.3089-35C= (n.3089-35C=)
c.3014-35C= (n.3014-35C=)
c.2609-35C= (n.2609-35C=)
c.1967-35C= (n.1967-35C=)
n.3392-35C=
n.82+2144G=
10g.71706862C>TCA5544396CDH23c.2954-35C>T (n.2954-35C>T)
c.2385-35C>T
c.2969-35C>T (n.2969-35C>T)
c.1729-35C>T
c.3149-35C>T (n.3149-35C>T)
c.3083-35C>T (n.3083-35C>T)
c.3143-35C>T (n.3143-35C>T)
c.3089-35C>T (n.3089-35C>T)
c.3014-35C>T (n.3014-35C>T)
c.2609-35C>T (n.2609-35C>T)
c.1967-35C>T (n.1967-35C>T)
n.3392-35C>T
n.82+2144G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706863C>ACA2609546191CDH23c.2954-34C>A (n.2954-34C>A)
c.2385-34C>A
c.2969-34C>A (n.2969-34C>A)
c.1729-34C>A
c.3149-34C>A (n.3149-34C>A)
c.3083-34C>A (n.3083-34C>A)
c.3143-34C>A (n.3143-34C>A)
c.3089-34C>A (n.3089-34C>A)
c.3014-34C>A (n.3014-34C>A)
c.2609-34C>A (n.2609-34C>A)
c.1967-34C>A (n.1967-34C>A)
n.3392-34C>A
n.82+2143G>T
 gnomAD v4
10g.71706863C>GCA2609546192CDH23c.2954-34C>G (n.2954-34C>G)
c.2385-34C>G
c.2969-34C>G (n.2969-34C>G)
c.1729-34C>G
c.3149-34C>G (n.3149-34C>G)
c.3083-34C>G (n.3083-34C>G)
c.3143-34C>G (n.3143-34C>G)
c.3089-34C>G (n.3089-34C>G)
c.3014-34C>G (n.3014-34C>G)
c.2609-34C>G (n.2609-34C>G)
c.1967-34C>G (n.1967-34C>G)
n.3392-34C>G
n.82+2143G>C
 gnomAD v4
10g.71706865G>CCA209457129CDH23c.2954-32G>C (n.2954-32G>C)
c.2385-32G>C
c.2969-32G>C (n.2969-32G>C)
c.1729-32G>C
c.3149-32G>C (n.3149-32G>C)
c.3083-32G>C (n.3083-32G>C)
c.3143-32G>C (n.3143-32G>C)
c.3089-32G>C (n.3089-32G>C)
c.3014-32G>C (n.3014-32G>C)
c.2609-32G>C (n.2609-32G>C)
c.1967-32G>C (n.1967-32G>C)
n.3392-32G>C
n.82+2141C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71706865G=CA1918837871CDH23c.2954-32G= (n.2954-32G=)
c.2385-32G=
c.2969-32G= (n.2969-32G=)
c.1729-32G=
c.3149-32G= (n.3149-32G=)
c.3083-32G= (n.3083-32G=)
c.3143-32G= (n.3143-32G=)
c.3089-32G= (n.3089-32G=)
c.3014-32G= (n.3014-32G=)
c.2609-32G= (n.2609-32G=)
c.1967-32G= (n.1967-32G=)
n.3392-32G=
n.82+2141C=
10g.71706865G>TCA2609546194CDH23c.2954-32G>T (n.2954-32G>T)
c.2385-32G>T
c.2969-32G>T (n.2969-32G>T)
c.1729-32G>T
c.3149-32G>T (n.3149-32G>T)
c.3083-32G>T (n.3083-32G>T)
c.3143-32G>T (n.3143-32G>T)
c.3089-32G>T (n.3089-32G>T)
c.3014-32G>T (n.3014-32G>T)
c.2609-32G>T (n.2609-32G>T)
c.1967-32G>T (n.1967-32G>T)
n.3392-32G>T
n.82+2141C>A
 gnomAD v4
10g.71706866G>ACA1918837879CDH23c.2954-31G>A (n.2954-31G>A)
c.2385-31G>A
c.2969-31G>A (n.2969-31G>A)
c.1729-31G>A
c.3149-31G>A (n.3149-31G>A)
c.3083-31G>A (n.3083-31G>A)
c.3143-31G>A (n.3143-31G>A)
c.3089-31G>A (n.3089-31G>A)
c.3014-31G>A (n.3014-31G>A)
c.2609-31G>A (n.2609-31G>A)
c.1967-31G>A (n.1967-31G>A)
n.3392-31G>A
n.82+2140C>T
 dbSNP
10g.71706866G=CA1918837876CDH23c.2954-31G= (n.2954-31G=)
c.2385-31G=
c.2969-31G= (n.2969-31G=)
c.1729-31G=
c.3149-31G= (n.3149-31G=)
c.3083-31G= (n.3083-31G=)
c.3143-31G= (n.3143-31G=)
c.3089-31G= (n.3089-31G=)
c.3014-31G= (n.3014-31G=)
c.2609-31G= (n.2609-31G=)
c.1967-31G= (n.1967-31G=)
n.3392-31G=
n.82+2140C=
10g.71706866G>TCA5544397CDH23c.2954-31G>T (n.2954-31G>T)
c.2385-31G>T
c.2969-31G>T (n.2969-31G>T)
c.1729-31G>T
c.3149-31G>T (n.3149-31G>T)
c.3083-31G>T (n.3083-31G>T)
c.3143-31G>T (n.3143-31G>T)
c.3089-31G>T (n.3089-31G>T)
c.3014-31G>T (n.3014-31G>T)
c.2609-31G>T (n.2609-31G>T)
c.1967-31G>T (n.1967-31G>T)
n.3392-31G>T
n.82+2140C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706867C>ACA2609546196CDH23c.2954-30C>A (n.2954-30C>A)
c.2385-30C>A
c.2969-30C>A (n.2969-30C>A)
c.1729-30C>A
c.3149-30C>A (n.3149-30C>A)
c.3083-30C>A (n.3083-30C>A)
c.3143-30C>A (n.3143-30C>A)
c.3089-30C>A (n.3089-30C>A)
c.3014-30C>A (n.3014-30C>A)
c.2609-30C>A (n.2609-30C>A)
c.1967-30C>A (n.1967-30C>A)
n.3392-30C>A
n.82+2139G>T
 dbSNP gnomAD v4
10g.71706868C>ACA2609546197CDH23c.2954-29C>A (n.2954-29C>A)
c.2385-29C>A
c.2969-29C>A (n.2969-29C>A)
c.1729-29C>A
c.3149-29C>A (n.3149-29C>A)
c.3083-29C>A (n.3083-29C>A)
c.3143-29C>A (n.3143-29C>A)
c.3089-29C>A (n.3089-29C>A)
c.3014-29C>A (n.3014-29C>A)
c.2609-29C>A (n.2609-29C>A)
c.1967-29C>A (n.1967-29C>A)
n.3392-29C>A
n.82+2138G>T
 gnomAD v4
10g.71706868C=CA1918837884CDH23c.2954-29C= (n.2954-29C=)
c.2385-29C=
c.2969-29C= (n.2969-29C=)
c.1729-29C=
c.3149-29C= (n.3149-29C=)
c.3083-29C= (n.3083-29C=)
c.3143-29C= (n.3143-29C=)
c.3089-29C= (n.3089-29C=)
c.3014-29C= (n.3014-29C=)
c.2609-29C= (n.2609-29C=)
c.1967-29C= (n.1967-29C=)
n.3392-29C=
n.82+2138G=
10g.71706868C>TCA209457134CDH23c.2954-29C>T (n.2954-29C>T)
c.2385-29C>T
c.2969-29C>T (n.2969-29C>T)
c.1729-29C>T
c.3149-29C>T (n.3149-29C>T)
c.3083-29C>T (n.3083-29C>T)
c.3143-29C>T (n.3143-29C>T)
c.3089-29C>T (n.3089-29C>T)
c.3014-29C>T (n.3014-29C>T)
c.2609-29C>T (n.2609-29C>T)
c.1967-29C>T (n.1967-29C>T)
n.3392-29C>T
n.82+2138G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71706869T>CCA2609546198CDH23c.2954-28T>C (n.2954-28T>C)
c.2385-28T>C
c.2969-28T>C (n.2969-28T>C)
c.1729-28T>C
c.3149-28T>C (n.3149-28T>C)
c.3083-28T>C (n.3083-28T>C)
c.3143-28T>C (n.3143-28T>C)
c.3089-28T>C (n.3089-28T>C)
c.3014-28T>C (n.3014-28T>C)
c.2609-28T>C (n.2609-28T>C)
c.1967-28T>C (n.1967-28T>C)
n.3392-28T>C
n.82+2137A>G
 gnomAD v4
10g.71706870A=CA1918837885CDH23c.2954-27A= (n.2954-27A=)
c.2385-27A=
c.2969-27A= (n.2969-27A=)
c.1729-27A=
c.3149-27A= (n.3149-27A=)
c.3083-27A= (n.3083-27A=)
c.3143-27A= (n.3143-27A=)
c.3089-27A= (n.3089-27A=)
c.3014-27A= (n.3014-27A=)
c.2609-27A= (n.2609-27A=)
c.1967-27A= (n.1967-27A=)
n.3392-27A=
n.82+2136T=
10g.71706870A>TCA209457139CDH23c.2954-27A>T (n.2954-27A>T)
c.2385-27A>T
c.2969-27A>T (n.2969-27A>T)
c.1729-27A>T
c.3149-27A>T (n.3149-27A>T)
c.3083-27A>T (n.3083-27A>T)
c.3143-27A>T (n.3143-27A>T)
c.3089-27A>T (n.3089-27A>T)
c.3014-27A>T (n.3014-27A>T)
c.2609-27A>T (n.2609-27A>T)
c.1967-27A>T (n.1967-27A>T)
n.3392-27A>T
n.82+2136T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71706871G>CCA2609546199CDH23c.2954-26G>C (n.2954-26G>C)
c.2385-26G>C
c.2969-26G>C (n.2969-26G>C)
c.1729-26G>C
c.3149-26G>C (n.3149-26G>C)
c.3083-26G>C (n.3083-26G>C)
c.3143-26G>C (n.3143-26G>C)
c.3089-26G>C (n.3089-26G>C)
c.3014-26G>C (n.3014-26G>C)
c.2609-26G>C (n.2609-26G>C)
c.1967-26G>C (n.1967-26G>C)
n.3392-26G>C
n.82+2135C>G
 gnomAD v4
10g.71706871G>TCA2609546200CDH23c.2954-26G>T (n.2954-26G>T)
c.2385-26G>T
c.2969-26G>T (n.2969-26G>T)
c.1729-26G>T
c.3149-26G>T (n.3149-26G>T)
c.3083-26G>T (n.3083-26G>T)
c.3143-26G>T (n.3143-26G>T)
c.3089-26G>T (n.3089-26G>T)
c.3014-26G>T (n.3014-26G>T)
c.2609-26G>T (n.2609-26G>T)
c.1967-26G>T (n.1967-26G>T)
n.3392-26G>T
n.82+2135C>A
 gnomAD v4
10g.71706871_71706872delinsGCCA1918837888CDH23c.2954-26_2954-25delinsGC (n.2954-26_2954-25delinsGC)
c.2385-26_2385-25delinsGC
c.2969-26_2969-25delinsGC (n.2969-26_2969-25delinsGC)
c.1729-26_1729-25delinsGC
c.3149-26_3149-25delinsGC (n.3149-26_3149-25delinsGC)
c.3083-26_3083-25delinsGC (n.3083-26_3083-25delinsGC)
c.3143-26_3143-25delinsGC (n.3143-26_3143-25delinsGC)
c.3089-26_3089-25delinsGC (n.3089-26_3089-25delinsGC)
c.3014-26_3014-25delinsGC (n.3014-26_3014-25delinsGC)
c.2609-26_2609-25delinsGC (n.2609-26_2609-25delinsGC)
c.1967-26_1967-25delinsGC (n.1967-26_1967-25delinsGC)
n.3392-26_3392-25delinsGC
n.82+2134_82+2135delinsGC
10g.71706872C>ACA2609546201CDH23c.2954-25C>A (n.2954-25C>A)
c.2385-25C>A
c.2969-25C>A (n.2969-25C>A)
c.1729-25C>A
c.3149-25C>A (n.3149-25C>A)
c.3083-25C>A (n.3083-25C>A)
c.3143-25C>A (n.3143-25C>A)
c.3089-25C>A (n.3089-25C>A)
c.3014-25C>A (n.3014-25C>A)
c.2609-25C>A (n.2609-25C>A)
c.1967-25C>A (n.1967-25C>A)
n.3392-25C>A
n.82+2134G>T
 gnomAD v4
10g.71706872C=CA1918837891CDH23c.2954-25C= (n.2954-25C=)
c.2385-25C=
c.2969-25C= (n.2969-25C=)
c.1729-25C=
c.3149-25C= (n.3149-25C=)
c.3083-25C= (n.3083-25C=)
c.3143-25C= (n.3143-25C=)
c.3089-25C= (n.3089-25C=)
c.3014-25C= (n.3014-25C=)
c.2609-25C= (n.2609-25C=)
c.1967-25C= (n.1967-25C=)
n.3392-25C=
n.82+2134G=
10g.71706872C>TCA209457164CDH23c.2954-25C>T (n.2954-25C>T)
c.2385-25C>T
c.2969-25C>T (n.2969-25C>T)
c.1729-25C>T
c.3149-25C>T (n.3149-25C>T)
c.3083-25C>T (n.3083-25C>T)
c.3143-25C>T (n.3143-25C>T)
c.3089-25C>T (n.3089-25C>T)
c.3014-25C>T (n.3014-25C>T)
c.2609-25C>T (n.2609-25C>T)
c.1967-25C>T (n.1967-25C>T)
n.3392-25C>T
n.82+2134G>A
 dbSNP gnomAD v4
10g.71706875delCA377140216CDH23c.2954-22del (n.2954-22del)
c.2385-22del
c.2969-22del (n.2969-22del)
c.1729-22del
c.3149-22del (n.3149-22del)
c.3083-22del (n.3083-22del)
c.3143-22del (n.3143-22del)
c.3089-22del (n.3089-22del)
c.3014-22del (n.3014-22del)
c.2609-22del (n.2609-22del)
c.1967-22del (n.1967-22del)
n.3392-22del
n.82+2134del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71706874C>ACA2609546202CDH23c.2954-23C>A (n.2954-23C>A)
c.2385-23C>A
c.2969-23C>A (n.2969-23C>A)
c.1729-23C>A
c.3149-23C>A (n.3149-23C>A)
c.3083-23C>A (n.3083-23C>A)
c.3143-23C>A (n.3143-23C>A)
c.3089-23C>A (n.3089-23C>A)
c.3014-23C>A (n.3014-23C>A)
c.2609-23C>A (n.2609-23C>A)
c.1967-23C>A (n.1967-23C>A)
n.3392-23C>A
n.82+2132G>T
 gnomAD v4
10g.71706874C=CA1918837892CDH23c.2954-23C= (n.2954-23C=)
c.2385-23C=
c.2969-23C= (n.2969-23C=)
c.1729-23C=
c.3149-23C= (n.3149-23C=)
c.3083-23C= (n.3083-23C=)
c.3143-23C= (n.3143-23C=)
c.3089-23C= (n.3089-23C=)
c.3014-23C= (n.3014-23C=)
c.2609-23C= (n.2609-23C=)
c.1967-23C= (n.1967-23C=)
n.3392-23C=
n.82+2132G=
10g.71706874C>TCA594320022CDH23c.2954-23C>T (n.2954-23C>T)
c.2385-23C>T
c.2969-23C>T (n.2969-23C>T)
c.1729-23C>T
c.3149-23C>T (n.3149-23C>T)
c.3083-23C>T (n.3083-23C>T)
c.3143-23C>T (n.3143-23C>T)
c.3089-23C>T (n.3089-23C>T)
c.3014-23C>T (n.3014-23C>T)
c.2609-23C>T (n.2609-23C>T)
c.1967-23C>T (n.1967-23C>T)
n.3392-23C>T
n.82+2132G>A
 dbSNP gnomAD v2
10g.71706875C>ACA2609546203CDH23c.2954-22C>A (n.2954-22C>A)
c.2385-22C>A
c.2969-22C>A (n.2969-22C>A)
c.1729-22C>A
c.3149-22C>A (n.3149-22C>A)
c.3083-22C>A (n.3083-22C>A)
c.3143-22C>A (n.3143-22C>A)
c.3089-22C>A (n.3089-22C>A)
c.3014-22C>A (n.3014-22C>A)
c.2609-22C>A (n.2609-22C>A)
c.1967-22C>A (n.1967-22C>A)
n.3392-22C>A
n.82+2131G>T
 gnomAD v4
10g.71706875C=CA1918837894CDH23c.2954-22C= (n.2954-22C=)
c.2385-22C=
c.2969-22C= (n.2969-22C=)
c.1729-22C=
c.3149-22C= (n.3149-22C=)
c.3083-22C= (n.3083-22C=)
c.3143-22C= (n.3143-22C=)
c.3089-22C= (n.3089-22C=)
c.3014-22C= (n.3014-22C=)
c.2609-22C= (n.2609-22C=)
c.1967-22C= (n.1967-22C=)
n.3392-22C=
n.82+2131G=
10g.71706875C>GCA668078454CDH23c.2954-22C>G (n.2954-22C>G)
c.2385-22C>G
c.2969-22C>G (n.2969-22C>G)
c.1729-22C>G
c.3149-22C>G (n.3149-22C>G)
c.3083-22C>G (n.3083-22C>G)
c.3143-22C>G (n.3143-22C>G)
c.3089-22C>G (n.3089-22C>G)
c.3014-22C>G (n.3014-22C>G)
c.2609-22C>G (n.2609-22C>G)
c.1967-22C>G (n.1967-22C>G)
n.3392-22C>G
n.82+2131G>C
 dbSNP gnomAD v3 gnomAD v4
10g.71706875C>TCA5544398CDH23c.2954-22C>T (n.2954-22C>T)
c.2385-22C>T
c.2969-22C>T (n.2969-22C>T)
c.1729-22C>T
c.3149-22C>T (n.3149-22C>T)
c.3083-22C>T (n.3083-22C>T)
c.3143-22C>T (n.3143-22C>T)
c.3089-22C>T (n.3089-22C>T)
c.3014-22C>T (n.3014-22C>T)
c.2609-22C>T (n.2609-22C>T)
c.1967-22C>T (n.1967-22C>T)
n.3392-22C>T
n.82+2131G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706876G>ACA5544399CDH23c.2954-21G>A (n.2954-21G>A)
c.2385-21G>A
c.2969-21G>A (n.2969-21G>A)
c.1729-21G>A
c.3149-21G>A (n.3149-21G>A)
c.3083-21G>A (n.3083-21G>A)
c.3143-21G>A (n.3143-21G>A)
c.3089-21G>A (n.3089-21G>A)
c.3014-21G>A (n.3014-21G>A)
c.2609-21G>A (n.2609-21G>A)
c.1967-21G>A (n.1967-21G>A)
n.3392-21G>A
n.82+2130C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706876G=CA1918837897CDH23c.2954-21G= (n.2954-21G=)
c.2385-21G=
c.2969-21G= (n.2969-21G=)
c.1729-21G=
c.3149-21G= (n.3149-21G=)
c.3083-21G= (n.3083-21G=)
c.3143-21G= (n.3143-21G=)
c.3089-21G= (n.3089-21G=)
c.3014-21G= (n.3014-21G=)
c.2609-21G= (n.2609-21G=)
c.1967-21G= (n.1967-21G=)
n.3392-21G=
n.82+2130C=
10g.71706876G>TCA209457180CDH23c.2954-21G>T (n.2954-21G>T)
c.2385-21G>T
c.2969-21G>T (n.2969-21G>T)
c.1729-21G>T
c.3149-21G>T (n.3149-21G>T)
c.3083-21G>T (n.3083-21G>T)
c.3143-21G>T (n.3143-21G>T)
c.3089-21G>T (n.3089-21G>T)
c.3014-21G>T (n.3014-21G>T)
c.2609-21G>T (n.2609-21G>T)
c.1967-21G>T (n.1967-21G>T)
n.3392-21G>T
n.82+2130C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71706877G>ACA668078458CDH23c.2954-20G>A (n.2954-20G>A)
c.2385-20G>A
c.2969-20G>A (n.2969-20G>A)
c.1729-20G>A
c.3149-20G>A (n.3149-20G>A)
c.3083-20G>A (n.3083-20G>A)
c.3143-20G>A (n.3143-20G>A)
c.3089-20G>A (n.3089-20G>A)
c.3014-20G>A (n.3014-20G>A)
c.2609-20G>A (n.2609-20G>A)
c.1967-20G>A (n.1967-20G>A)
n.3392-20G>A
n.82+2129C>T
 dbSNP gnomAD v3 gnomAD v4
10g.71706877G=CA1918837898CDH23c.2954-20G= (n.2954-20G=)
c.2385-20G=
c.2969-20G= (n.2969-20G=)
c.1729-20G=
c.3149-20G= (n.3149-20G=)
c.3083-20G= (n.3083-20G=)
c.3143-20G= (n.3143-20G=)
c.3089-20G= (n.3089-20G=)
c.3014-20G= (n.3014-20G=)
c.2609-20G= (n.2609-20G=)
c.1967-20G= (n.1967-20G=)
n.3392-20G=
n.82+2129C=
10g.71706877G>TCA2609546204CDH23c.2954-20G>T (n.2954-20G>T)
c.2385-20G>T
c.2969-20G>T (n.2969-20G>T)
c.1729-20G>T
c.3149-20G>T (n.3149-20G>T)
c.3083-20G>T (n.3083-20G>T)
c.3143-20G>T (n.3143-20G>T)
c.3089-20G>T (n.3089-20G>T)
c.3014-20G>T (n.3014-20G>T)
c.2609-20G>T (n.2609-20G>T)
c.1967-20G>T (n.1967-20G>T)
n.3392-20G>T
n.82+2129C>A
 gnomAD v4
10g.71706878C>ACA2609546205CDH23c.2954-19C>A (n.2954-19C>A)
c.2385-19C>A
c.2969-19C>A (n.2969-19C>A)
c.1729-19C>A
c.3149-19C>A (n.3149-19C>A)
c.3083-19C>A (n.3083-19C>A)
c.3143-19C>A (n.3143-19C>A)
c.3089-19C>A (n.3089-19C>A)
c.3014-19C>A (n.3014-19C>A)
c.2609-19C>A (n.2609-19C>A)
c.1967-19C>A (n.1967-19C>A)
n.3392-19C>A
n.82+2128G>T
 gnomAD v4
10g.71706878C=CA1918837901CDH23c.2954-19C= (n.2954-19C=)
c.2385-19C=
c.2969-19C= (n.2969-19C=)
c.1729-19C=
c.3149-19C= (n.3149-19C=)
c.3083-19C= (n.3083-19C=)
c.3143-19C= (n.3143-19C=)
c.3089-19C= (n.3089-19C=)
c.3014-19C= (n.3014-19C=)
c.2609-19C= (n.2609-19C=)
c.1967-19C= (n.1967-19C=)
n.3392-19C=
n.82+2128G=
10g.71706878C>TCA5544400CDH23c.2954-19C>T (n.2954-19C>T)
c.2385-19C>T
c.2969-19C>T (n.2969-19C>T)
c.1729-19C>T
c.3149-19C>T (n.3149-19C>T)
c.3083-19C>T (n.3083-19C>T)
c.3143-19C>T (n.3143-19C>T)
c.3089-19C>T (n.3089-19C>T)
c.3014-19C>T (n.3014-19C>T)
c.2609-19C>T (n.2609-19C>T)
c.1967-19C>T (n.1967-19C>T)
n.3392-19C>T
n.82+2128G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706879G>ACA5544401CDH23c.2954-18G>A (n.2954-18G>A)
c.2385-18G>A
c.2969-18G>A (n.2969-18G>A)
c.1729-18G>A
c.3149-18G>A (n.3149-18G>A)
c.3083-18G>A (n.3083-18G>A)
c.3143-18G>A (n.3143-18G>A)
c.3089-18G>A (n.3089-18G>A)
c.3014-18G>A (n.3014-18G>A)
c.2609-18G>A (n.2609-18G>A)
c.1967-18G>A (n.1967-18G>A)
n.3392-18G>A
n.82+2127C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706879G=CA1918837904CDH23c.2954-18G= (n.2954-18G=)
c.2385-18G=
c.2969-18G= (n.2969-18G=)
c.1729-18G=
c.3149-18G= (n.3149-18G=)
c.3083-18G= (n.3083-18G=)
c.3143-18G= (n.3143-18G=)
c.3089-18G= (n.3089-18G=)
c.3014-18G= (n.3014-18G=)
c.2609-18G= (n.2609-18G=)
c.1967-18G= (n.1967-18G=)
n.3392-18G=
n.82+2127C=
10g.71706879G>TCA929788409CDH23c.2954-18G>T (n.2954-18G>T)
c.2385-18G>T
c.2969-18G>T (n.2969-18G>T)
c.1729-18G>T
c.3149-18G>T (n.3149-18G>T)
c.3083-18G>T (n.3083-18G>T)
c.3143-18G>T (n.3143-18G>T)
c.3089-18G>T (n.3089-18G>T)
c.3014-18G>T (n.3014-18G>T)
c.2609-18G>T (n.2609-18G>T)
c.1967-18G>T (n.1967-18G>T)
n.3392-18G>T
n.82+2127C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71706880C>ACA2609546206CDH23c.2954-17C>A (n.2954-17C>A)
c.2385-17C>A
c.2969-17C>A (n.2969-17C>A)
c.1729-17C>A
c.3149-17C>A (n.3149-17C>A)
c.3083-17C>A (n.3083-17C>A)
c.3143-17C>A (n.3143-17C>A)
c.3089-17C>A (n.3089-17C>A)
c.3014-17C>A (n.3014-17C>A)
c.2609-17C>A (n.2609-17C>A)
c.1967-17C>A (n.1967-17C>A)
n.3392-17C>A
n.82+2126G>T
 gnomAD v4
10g.71706880C>GCA2609546207CDH23c.2954-17C>G (n.2954-17C>G)
c.2385-17C>G
c.2969-17C>G (n.2969-17C>G)
c.1729-17C>G
c.3149-17C>G (n.3149-17C>G)
c.3083-17C>G (n.3083-17C>G)
c.3143-17C>G (n.3143-17C>G)
c.3089-17C>G (n.3089-17C>G)
c.3014-17C>G (n.3014-17C>G)
c.2609-17C>G (n.2609-17C>G)
c.1967-17C>G (n.1967-17C>G)
n.3392-17C>G
n.82+2126G>C
 gnomAD v4
10g.71706881C>ACA2609546208CDH23c.2954-16C>A (n.2954-16C>A)
c.2385-16C>A
c.2969-16C>A (n.2969-16C>A)
c.1729-16C>A
c.3149-16C>A (n.3149-16C>A)
c.3083-16C>A (n.3083-16C>A)
c.3143-16C>A (n.3143-16C>A)
c.3089-16C>A (n.3089-16C>A)
c.3014-16C>A (n.3014-16C>A)
c.2609-16C>A (n.2609-16C>A)
c.1967-16C>A (n.1967-16C>A)
n.3392-16C>A
n.82+2125G>T
 gnomAD v4
10g.71706882C>ACA2609546210CDH23c.2954-15C>A (n.2954-15C>A)
c.2385-15C>A
c.2969-15C>A (n.2969-15C>A)
c.1729-15C>A
c.3149-15C>A (n.3149-15C>A)
c.3083-15C>A (n.3083-15C>A)
c.3143-15C>A (n.3143-15C>A)
c.3089-15C>A (n.3089-15C>A)
c.3014-15C>A (n.3014-15C>A)
c.2609-15C>A (n.2609-15C>A)
c.1967-15C>A (n.1967-15C>A)
n.3392-15C>A
n.82+2124G>T
 gnomAD v4
10g.71706882C=CA1918837905CDH23c.2954-15C= (n.2954-15C=)
c.2385-15C=
c.2969-15C= (n.2969-15C=)
c.1729-15C=
c.3149-15C= (n.3149-15C=)
c.3083-15C= (n.3083-15C=)
c.3143-15C= (n.3143-15C=)
c.3089-15C= (n.3089-15C=)
c.3014-15C= (n.3014-15C=)
c.2609-15C= (n.2609-15C=)
c.1967-15C= (n.1967-15C=)
n.3392-15C=
n.82+2124G=
10g.71706882C>GCA2609546211CDH23c.2954-15C>G (n.2954-15C>G)
c.2385-15C>G
c.2969-15C>G (n.2969-15C>G)
c.1729-15C>G
c.3149-15C>G (n.3149-15C>G)
c.3083-15C>G (n.3083-15C>G)
c.3143-15C>G (n.3143-15C>G)
c.3089-15C>G (n.3089-15C>G)
c.3014-15C>G (n.3014-15C>G)
c.2609-15C>G (n.2609-15C>G)
c.1967-15C>G (n.1967-15C>G)
n.3392-15C>G
n.82+2124G>C
 gnomAD v4
10g.71706882C>TCA5544402CDH23c.2954-15C>T (n.2954-15C>T)
c.2385-15C>T
c.2969-15C>T (n.2969-15C>T)
c.1729-15C>T
c.3149-15C>T (n.3149-15C>T)
c.3083-15C>T (n.3083-15C>T)
c.3143-15C>T (n.3143-15C>T)
c.3089-15C>T (n.3089-15C>T)
c.3014-15C>T (n.3014-15C>T)
c.2609-15C>T (n.2609-15C>T)
c.1967-15C>T (n.1967-15C>T)
n.3392-15C>T
n.82+2124G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706883G>ACA175478CDH23c.2954-14G>A (n.2954-14G>A)
c.2385-14G>A
c.2969-14G>A (n.2969-14G>A)
c.1729-14G>A
c.3149-14G>A (n.3149-14G>A)
c.3083-14G>A (n.3083-14G>A)
c.3143-14G>A (n.3143-14G>A)
c.3089-14G>A (n.3089-14G>A)
c.3014-14G>A (n.3014-14G>A)
c.2609-14G>A (n.2609-14G>A)
c.1967-14G>A (n.1967-14G>A)
n.3392-14G>A
n.82+2123C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706883G=CA1918837909CDH23c.2954-14G= (n.2954-14G=)
c.2385-14G=
c.2969-14G= (n.2969-14G=)
c.1729-14G=
c.3149-14G= (n.3149-14G=)
c.3083-14G= (n.3083-14G=)
c.3143-14G= (n.3143-14G=)
c.3089-14G= (n.3089-14G=)
c.3014-14G= (n.3014-14G=)
c.2609-14G= (n.2609-14G=)
c.1967-14G= (n.1967-14G=)
n.3392-14G=
n.82+2123C=
10g.71706883G>TCA2609546212CDH23c.2954-14G>T (n.2954-14G>T)
c.2385-14G>T
c.2969-14G>T (n.2969-14G>T)
c.1729-14G>T
c.3149-14G>T (n.3149-14G>T)
c.3083-14G>T (n.3083-14G>T)
c.3143-14G>T (n.3143-14G>T)
c.3089-14G>T (n.3089-14G>T)
c.3014-14G>T (n.3014-14G>T)
c.2609-14G>T (n.2609-14G>T)
c.1967-14G>T (n.1967-14G>T)
n.3392-14G>T
n.82+2123C>A
 gnomAD v4
10g.71706884T>CCA1918837913CDH23c.2954-13T>C (n.2954-13T>C)
c.2385-13T>C
c.2969-13T>C (n.2969-13T>C)
c.1729-13T>C
c.3149-13T>C (n.3149-13T>C)
c.3083-13T>C (n.3083-13T>C)
c.3143-13T>C (n.3143-13T>C)
c.3089-13T>C (n.3089-13T>C)
c.3014-13T>C (n.3014-13T>C)
c.2609-13T>C (n.2609-13T>C)
c.1967-13T>C (n.1967-13T>C)
n.3392-13T>C
n.82+2122A>G
 dbSNP gnomAD v4
10g.71706884T=CA1918837911CDH23c.2954-13T= (n.2954-13T=)
c.2385-13T=
c.2969-13T= (n.2969-13T=)
c.1729-13T=
c.3149-13T= (n.3149-13T=)
c.3083-13T= (n.3083-13T=)
c.3143-13T= (n.3143-13T=)
c.3089-13T= (n.3089-13T=)
c.3014-13T= (n.3014-13T=)
c.2609-13T= (n.2609-13T=)
c.1967-13T= (n.1967-13T=)
n.3392-13T=
n.82+2122A=
10g.71706885T>GCA2522210502CDH23c.2954-12T>G (n.2954-12T>G)
c.2385-12T>G
c.2969-12T>G (n.2969-12T>G)
c.1729-12T>G
c.3149-12T>G (n.3149-12T>G)
c.3083-12T>G (n.3083-12T>G)
c.3143-12T>G (n.3143-12T>G)
c.3089-12T>G (n.3089-12T>G)
c.3014-12T>G (n.3014-12T>G)
c.2609-12T>G (n.2609-12T>G)
c.1967-12T>G (n.1967-12T>G)
n.3392-12T>G
n.82+2121A>C
10g.71706886C>ACA2609546215CDH23c.2954-11C>A (n.2954-11C>A)
c.2385-11C>A
c.2969-11C>A (n.2969-11C>A)
c.1729-11C>A
c.3149-11C>A (n.3149-11C>A)
c.3083-11C>A (n.3083-11C>A)
c.3143-11C>A (n.3143-11C>A)
c.3089-11C>A (n.3089-11C>A)
c.3014-11C>A (n.3014-11C>A)
c.2609-11C>A (n.2609-11C>A)
c.1967-11C>A (n.1967-11C>A)
n.3392-11C>A
n.82+2120G>T
 gnomAD v4
10g.71706886C>GCA2609546213CDH23c.2954-11C>G (n.2954-11C>G)
c.2385-11C>G
c.2969-11C>G (n.2969-11C>G)
c.1729-11C>G
c.3149-11C>G (n.3149-11C>G)
c.3083-11C>G (n.3083-11C>G)
c.3143-11C>G (n.3143-11C>G)
c.3089-11C>G (n.3089-11C>G)
c.3014-11C>G (n.3014-11C>G)
c.2609-11C>G (n.2609-11C>G)
c.1967-11C>G (n.1967-11C>G)
n.3392-11C>G
n.82+2120G>C
 gnomAD v4
10g.71706886C>TCA2609546214CDH23c.2954-11C>T (n.2954-11C>T)
c.2385-11C>T
c.2969-11C>T (n.2969-11C>T)
c.1729-11C>T
c.3149-11C>T (n.3149-11C>T)
c.3083-11C>T (n.3083-11C>T)
c.3143-11C>T (n.3143-11C>T)
c.3089-11C>T (n.3089-11C>T)
c.3014-11C>T (n.3014-11C>T)
c.2609-11C>T (n.2609-11C>T)
c.1967-11C>T (n.1967-11C>T)
n.3392-11C>T
n.82+2120G>A
 gnomAD v4
10g.71706887T>CCA2574575061CDH23c.2954-10T>C (n.2954-10T>C)
c.2385-10T>C
c.2969-10T>C (n.2969-10T>C)
c.1729-10T>C
c.3149-10T>C (n.3149-10T>C)
c.3083-10T>C (n.3083-10T>C)
c.3143-10T>C (n.3143-10T>C)
c.3089-10T>C (n.3089-10T>C)
c.3014-10T>C (n.3014-10T>C)
c.2609-10T>C (n.2609-10T>C)
c.1967-10T>C (n.1967-10T>C)
n.3392-10T>C
n.82+2119A>G
10g.71706888G>ACA2609546216CDH23c.2954-9G>A (n.2954-9G>A)
c.2385-9G>A
c.2969-9G>A (n.2969-9G>A)
c.1729-9G>A
c.3149-9G>A (n.3149-9G>A)
c.3083-9G>A (n.3083-9G>A)
c.3143-9G>A (n.3143-9G>A)
c.3089-9G>A (n.3089-9G>A)
c.3014-9G>A (n.3014-9G>A)
c.2609-9G>A (n.2609-9G>A)
c.1967-9G>A (n.1967-9G>A)
n.3392-9G>A
n.82+2118C>T
 gnomAD v4
10g.71706888G>TCA2609546217CDH23c.2954-9G>T (n.2954-9G>T)
c.2385-9G>T
c.2969-9G>T (n.2969-9G>T)
c.1729-9G>T
c.3149-9G>T (n.3149-9G>T)
c.3083-9G>T (n.3083-9G>T)
c.3143-9G>T (n.3143-9G>T)
c.3089-9G>T (n.3089-9G>T)
c.3014-9G>T (n.3014-9G>T)
c.2609-9G>T (n.2609-9G>T)
c.1967-9G>T (n.1967-9G>T)
n.3392-9G>T
n.82+2118C>A
 gnomAD v4
10g.71706888_71706889delinsGCCA1918837915CDH23c.2954-9_2954-8delinsGC (n.2954-9_2954-8delinsGC)
c.2385-9_2385-8delinsGC
c.2969-9_2969-8delinsGC (n.2969-9_2969-8delinsGC)
c.1729-9_1729-8delinsGC
c.3149-9_3149-8delinsGC (n.3149-9_3149-8delinsGC)
c.3083-9_3083-8delinsGC (n.3083-9_3083-8delinsGC)
c.3143-9_3143-8delinsGC (n.3143-9_3143-8delinsGC)
c.3089-9_3089-8delinsGC (n.3089-9_3089-8delinsGC)
c.3014-9_3014-8delinsGC (n.3014-9_3014-8delinsGC)
c.2609-9_2609-8delinsGC (n.2609-9_2609-8delinsGC)
c.1967-9_1967-8delinsGC (n.1967-9_1967-8delinsGC)
n.3392-9_3392-8delinsGC
n.82+2117_82+2118delinsGC
10g.71706889C>ACA2609546218CDH23c.2954-8C>A (n.2954-8C>A)
c.2385-8C>A
c.2969-8C>A (n.2969-8C>A)
c.1729-8C>A
c.3149-8C>A (n.3149-8C>A)
c.3083-8C>A (n.3083-8C>A)
c.3143-8C>A (n.3143-8C>A)
c.3089-8C>A (n.3089-8C>A)
c.3014-8C>A (n.3014-8C>A)
c.2609-8C>A (n.2609-8C>A)
c.1967-8C>A (n.1967-8C>A)
n.3392-8C>A
n.82+2117G>T
 gnomAD v4
10g.71706889C>TCA2557297536CDH23c.2954-8C>T (n.2954-8C>T)
c.2385-8C>T
c.2969-8C>T (n.2969-8C>T)
c.1729-8C>T
c.3149-8C>T (n.3149-8C>T)
c.3083-8C>T (n.3083-8C>T)
c.3143-8C>T (n.3143-8C>T)
c.3089-8C>T (n.3089-8C>T)
c.3014-8C>T (n.3014-8C>T)
c.2609-8C>T (n.2609-8C>T)
c.1967-8C>T (n.1967-8C>T)
n.3392-8C>T
n.82+2117G>A
 ClinVar gnomAD v4
10g.71706892delCA5544403CDH23c.2954-5del (n.2954-5del)
c.2385-5del
c.2969-5del (n.2969-5del)
c.1729-5del
c.3149-5del (n.3149-5del)
c.3083-5del (n.3083-5del)
c.3143-5del (n.3143-5del)
c.3089-5del (n.3089-5del)
c.3014-5del (n.3014-5del)
c.2609-5del (n.2609-5del)
c.1967-5del (n.1967-5del)
n.3392-5del
n.82+2117del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706890C>ACA2574575063CDH23c.2954-7C>A (n.2954-7C>A)
c.2385-7C>A
c.2969-7C>A (n.2969-7C>A)
c.1729-7C>A
c.3149-7C>A (n.3149-7C>A)
c.3083-7C>A (n.3083-7C>A)
c.3143-7C>A (n.3143-7C>A)
c.3089-7C>A (n.3089-7C>A)
c.3014-7C>A (n.3014-7C>A)
c.2609-7C>A (n.2609-7C>A)
c.1967-7C>A (n.1967-7C>A)
n.3392-7C>A
n.82+2116G>T
10g.71706890C=CA1918837920CDH23c.2954-7C= (n.2954-7C=)
c.2385-7C=
c.2969-7C= (n.2969-7C=)
c.1729-7C=
c.3149-7C= (n.3149-7C=)
c.3083-7C= (n.3083-7C=)
c.3143-7C= (n.3143-7C=)
c.3089-7C= (n.3089-7C=)
c.3014-7C= (n.3014-7C=)
c.2609-7C= (n.2609-7C=)
c.1967-7C= (n.1967-7C=)
n.3392-7C=
n.82+2116G=
10g.71706890C>TCA594320039CDH23c.2954-7C>T (n.2954-7C>T)
c.2385-7C>T
c.2969-7C>T (n.2969-7C>T)
c.1729-7C>T
c.3149-7C>T (n.3149-7C>T)
c.3083-7C>T (n.3083-7C>T)
c.3143-7C>T (n.3143-7C>T)
c.3089-7C>T (n.3089-7C>T)
c.3014-7C>T (n.3014-7C>T)
c.2609-7C>T (n.2609-7C>T)
c.1967-7C>T (n.1967-7C>T)
n.3392-7C>T
n.82+2116G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71706891C>ACA2609546219CDH23c.2954-6C>A (n.2954-6C>A)
c.2385-6C>A
c.2969-6C>A (n.2969-6C>A)
c.1729-6C>A
c.3149-6C>A (n.3149-6C>A)
c.3083-6C>A (n.3083-6C>A)
c.3143-6C>A (n.3143-6C>A)
c.3089-6C>A (n.3089-6C>A)
c.3014-6C>A (n.3014-6C>A)
c.2609-6C>A (n.2609-6C>A)
c.1967-6C>A (n.1967-6C>A)
n.3392-6C>A
n.82+2115G>T
 gnomAD v4
10g.71706891C>TCA2609546220CDH23c.2954-6C>T (n.2954-6C>T)
c.2385-6C>T
c.2969-6C>T (n.2969-6C>T)
c.1729-6C>T
c.3149-6C>T (n.3149-6C>T)
c.3083-6C>T (n.3083-6C>T)
c.3143-6C>T (n.3143-6C>T)
c.3089-6C>T (n.3089-6C>T)
c.3014-6C>T (n.3014-6C>T)
c.2609-6C>T (n.2609-6C>T)
c.1967-6C>T (n.1967-6C>T)
n.3392-6C>T
n.82+2115G>A
 gnomAD v4
10g.71706892C>ACA2609546221CDH23c.2954-5C>A (n.2954-5C>A)
c.2385-5C>A
c.2969-5C>A (n.2969-5C>A)
c.1729-5C>A
c.3149-5C>A (n.3149-5C>A)
c.3083-5C>A (n.3083-5C>A)
c.3143-5C>A (n.3143-5C>A)
c.3089-5C>A (n.3089-5C>A)
c.3014-5C>A (n.3014-5C>A)
c.2609-5C>A (n.2609-5C>A)
c.1967-5C>A (n.1967-5C>A)
n.3392-5C>A
n.82+2114G>T
 gnomAD v4
10g.71706892C=CA1918837925CDH23c.2954-5C= (n.2954-5C=)
c.2385-5C=
c.2969-5C= (n.2969-5C=)
c.1729-5C=
c.3149-5C= (n.3149-5C=)
c.3083-5C= (n.3083-5C=)
c.3143-5C= (n.3143-5C=)
c.3089-5C= (n.3089-5C=)
c.3014-5C= (n.3014-5C=)
c.2609-5C= (n.2609-5C=)
c.1967-5C= (n.1967-5C=)
n.3392-5C=
n.82+2114G=
10g.71706892C>TCA5544404CDH23c.2954-5C>T (n.2954-5C>T)
c.2385-5C>T
c.2969-5C>T (n.2969-5C>T)
c.1729-5C>T
c.3149-5C>T (n.3149-5C>T)
c.3083-5C>T (n.3083-5C>T)
c.3143-5C>T (n.3143-5C>T)
c.3089-5C>T (n.3089-5C>T)
c.3014-5C>T (n.3014-5C>T)
c.2609-5C>T (n.2609-5C>T)
c.1967-5C>T (n.1967-5C>T)
n.3392-5C>T
n.82+2114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706893G>ACA5544405CDH23c.2954-4G>A (n.2954-4G>A)
c.2385-4G>A
c.2969-4G>A (n.2969-4G>A)
c.1729-4G>A
c.3149-4G>A (n.3149-4G>A)
c.3083-4G>A (n.3083-4G>A)
c.3143-4G>A (n.3143-4G>A)
c.3089-4G>A (n.3089-4G>A)
c.3014-4G>A (n.3014-4G>A)
c.2609-4G>A (n.2609-4G>A)
c.1967-4G>A (n.1967-4G>A)
n.3392-4G>A
n.82+2113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706893G=CA1918837928CDH23c.2954-4G= (n.2954-4G=)
c.2385-4G=
c.2969-4G= (n.2969-4G=)
c.1729-4G=
c.3149-4G= (n.3149-4G=)
c.3083-4G= (n.3083-4G=)
c.3143-4G= (n.3143-4G=)
c.3089-4G= (n.3089-4G=)
c.3014-4G= (n.3014-4G=)
c.2609-4G= (n.2609-4G=)
c.1967-4G= (n.1967-4G=)
n.3392-4G=
n.82+2113C=
10g.71706893G>TCA2499220325CDH23c.2954-4G>T (n.2954-4G>T)
c.2385-4G>T
c.2969-4G>T (n.2969-4G>T)
c.1729-4G>T
c.3149-4G>T (n.3149-4G>T)
c.3083-4G>T (n.3083-4G>T)
c.3143-4G>T (n.3143-4G>T)
c.3089-4G>T (n.3089-4G>T)
c.3014-4G>T (n.3014-4G>T)
c.2609-4G>T (n.2609-4G>T)
c.1967-4G>T (n.1967-4G>T)
n.3392-4G>T
n.82+2113C>A
 ClinVar dbSNP gnomAD v4
10g.71706894C>ACA2609546222CDH23c.2954-3C>A (n.2954-3C>A)
c.2385-3C>A
c.2969-3C>A (n.2969-3C>A)
c.1729-3C>A
c.3149-3C>A (n.3149-3C>A)
c.3083-3C>A (n.3083-3C>A)
c.3143-3C>A (n.3143-3C>A)
c.3089-3C>A (n.3089-3C>A)
c.3014-3C>A (n.3014-3C>A)
c.2609-3C>A (n.2609-3C>A)
c.1967-3C>A (n.1967-3C>A)
n.3392-3C>A
n.82+2112G>T
 gnomAD v4
10g.71706894C>TCA2609546223CDH23c.2954-3C>T (n.2954-3C>T)
c.2385-3C>T
c.2969-3C>T (n.2969-3C>T)
c.1729-3C>T
c.3149-3C>T (n.3149-3C>T)
c.3083-3C>T (n.3083-3C>T)
c.3143-3C>T (n.3143-3C>T)
c.3089-3C>T (n.3089-3C>T)
c.3014-3C>T (n.3014-3C>T)
c.2609-3C>T (n.2609-3C>T)
c.1967-3C>T (n.1967-3C>T)
n.3392-3C>T
n.82+2112G>A
 gnomAD v4
10g.71706895A=CA1918837931CDH23c.2954-2A= (n.2954-2A=)
c.2385-2A=
c.2969-2A= (n.2969-2A=)
c.1729-2A=
c.3149-2A= (n.3149-2A=)
c.3083-2A= (n.3083-2A=)
c.3143-2A= (n.3143-2A=)
c.3089-2A= (n.3089-2A=)
c.3014-2A= (n.3014-2A=)
c.2609-2A= (n.2609-2A=)
c.1967-2A= (n.1967-2A=)
n.3392-2A=
n.82+2111T=
10g.71706895A>CCA377140229CDH23c.2954-2A>C (n.2954-2A>C)
c.2385-2A>C
c.2969-2A>C (n.2969-2A>C)
c.1729-2A>C
c.3149-2A>C (n.3149-2A>C)
c.3083-2A>C (n.3083-2A>C)
c.3143-2A>C (n.3143-2A>C)
c.3089-2A>C (n.3089-2A>C)
c.3014-2A>C (n.3014-2A>C)
c.2609-2A>C (n.2609-2A>C)
c.1967-2A>C (n.1967-2A>C)
n.3392-2A>C
n.82+2111T>G
10g.71706895A>GCA377140230CDH23c.2954-2A>G (n.2954-2A>G)
c.2385-2A>G
c.2969-2A>G (n.2969-2A>G)
c.1729-2A>G
c.3149-2A>G (n.3149-2A>G)
c.3083-2A>G (n.3083-2A>G)
c.3143-2A>G (n.3143-2A>G)
c.3089-2A>G (n.3089-2A>G)
c.3014-2A>G (n.3014-2A>G)
c.2609-2A>G (n.2609-2A>G)
c.1967-2A>G (n.1967-2A>G)
n.3392-2A>G
n.82+2111T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71706895A>TCA377140232CDH23c.2954-2A>T (n.2954-2A>T)
c.2385-2A>T
c.2969-2A>T (n.2969-2A>T)
c.1729-2A>T
c.3149-2A>T (n.3149-2A>T)
c.3083-2A>T (n.3083-2A>T)
c.3143-2A>T (n.3143-2A>T)
c.3089-2A>T (n.3089-2A>T)
c.3014-2A>T (n.3014-2A>T)
c.2609-2A>T (n.2609-2A>T)
c.1967-2A>T (n.1967-2A>T)
n.3392-2A>T
n.82+2111T>A
 gnomAD v4
10g.71706896G>ACA377140234CDH23c.2954-1G>A (n.2954-1G>A)
c.2385-1G>A
c.2969-1G>A (n.2969-1G>A)
c.1729-1G>A
c.3149-1G>A (n.3149-1G>A)
c.3083-1G>A (n.3083-1G>A)
c.3143-1G>A (n.3143-1G>A)
c.3089-1G>A (n.3089-1G>A)
c.3014-1G>A (n.3014-1G>A)
c.2609-1G>A (n.2609-1G>A)
c.1967-1G>A (n.1967-1G>A)
n.3392-1G>A
n.82+2110C>T
 gnomAD v4
10g.71706896G>CCA377140236CDH23c.2954-1G>C (n.2954-1G>C)
c.2385-1G>C
c.2969-1G>C (n.2969-1G>C)
c.1729-1G>C
c.3149-1G>C (n.3149-1G>C)
c.3083-1G>C (n.3083-1G>C)
c.3143-1G>C (n.3143-1G>C)
c.3089-1G>C (n.3089-1G>C)
c.3014-1G>C (n.3014-1G>C)
c.2609-1G>C (n.2609-1G>C)
c.1967-1G>C (n.1967-1G>C)
n.3392-1G>C
n.82+2110C>G
 dbSNP
10g.71706896G>TCA377140237CDH23c.2954-1G>T (n.2954-1G>T)
c.2385-1G>T
c.2969-1G>T (n.2969-1G>T)
c.1729-1G>T
c.3149-1G>T (n.3149-1G>T)
c.3083-1G>T (n.3083-1G>T)
c.3143-1G>T (n.3143-1G>T)
c.3089-1G>T (n.3089-1G>T)
c.3014-1G>T (n.3014-1G>T)
c.2609-1G>T (n.2609-1G>T)
c.1967-1G>T (n.1967-1G>T)
n.3392-1G>T
n.82+2110C>A
 gnomAD v4
10g.71706897T>ACA377140244CDH23c.2954T>A (p.Val985Glu)
c.2385T>A
c.2969T>A (p.Val990Glu)
c.1729T>A
c.3149T>A (p.Val1050Glu)
c.3083T>A (p.Val1028Glu)
c.3143T>A (p.Val1048Glu)
c.3089T>A (p.Val1030Glu)
c.3014T>A (p.Val1005Glu)
c.2609T>A (p.Val870Glu)
c.1967T>A (p.Val656Glu)
n.3392T>A
n.82+2109A>T
10g.71706897T>CCA377140241CDH23c.2954T>C (p.Val985Ala)
c.2385T>C
c.2969T>C (p.Val990Ala)
c.1729T>C
c.3149T>C (p.Val1050Ala)
c.3083T>C (p.Val1028Ala)
c.3143T>C (p.Val1048Ala)
c.3089T>C (p.Val1030Ala)
c.3014T>C (p.Val1005Ala)
c.2609T>C (p.Val870Ala)
c.1967T>C (p.Val656Ala)
n.3392T>C
n.82+2109A>G
10g.71706897T>GCA377140239CDH23c.2954T>G (p.Val985Gly)
c.2385T>G
c.2969T>G (p.Val990Gly)
c.1729T>G
c.3149T>G (p.Val1050Gly)
c.3083T>G (p.Val1028Gly)
c.3143T>G (p.Val1048Gly)
c.3089T>G (p.Val1030Gly)
c.3014T>G (p.Val1005Gly)
c.2609T>G (p.Val870Gly)
c.1967T>G (p.Val656Gly)
n.3392T>G
n.82+2109A>C
10g.71706898G>ACA470061726CDH23c.2955G>A (p.Val985=)
c.2386G>A
c.2970G>A (p.Val990=)
c.1730G>A
c.3150G>A (p.Val1050=)
c.3084G>A (p.Val1028=)
c.3144G>A (p.Val1048=)
c.3090G>A (p.Val1030=)
c.3015G>A (p.Val1005=)
c.2610G>A (p.Val870=)
c.1968G>A (p.Val656=)
n.3393G>A
n.82+2108C>T
 dbSNP
10g.71706898G>CCA470061727CDH23c.2955G>C (p.Val985=)
c.2386G>C
c.2970G>C (p.Val990=)
c.1730G>C
c.3150G>C (p.Val1050=)
c.3084G>C (p.Val1028=)
c.3144G>C (p.Val1048=)
c.3090G>C (p.Val1030=)
c.3015G>C (p.Val1005=)
c.2610G>C (p.Val870=)
c.1968G>C (p.Val656=)
n.3393G>C
n.82+2108C>G
 ClinVar dbSNP
10g.71706898G>TCA470061728CDH23c.2955G>T (p.Val985=)
c.2386G>T
c.2970G>T (p.Val990=)
c.1730G>T
c.3150G>T (p.Val1050=)
c.3084G>T (p.Val1028=)
c.3144G>T (p.Val1048=)
c.3090G>T (p.Val1030=)
c.3015G>T (p.Val1005=)
c.2610G>T (p.Val870=)
c.1968G>T (p.Val656=)
n.3393G>T
n.82+2108C>A
10g.71706898_71706910delinsGCTGGATGTGAACCA1918837934CDH23c.2955_2967delinsGCTGGATGTGAAC (p.Val985=)
c.2386_2398delinsGCTGGATGTGAAC
c.2970_2982delinsGCTGGATGTGAAC (p.Val990=)
c.1730_1742delinsGCTGGATGTGAAC
c.3150_3162delinsGCTGGATGTGAAC (p.Val1050=)
c.3084_3096delinsGCTGGATGTGAAC (p.Val1028=)
c.3144_3156delinsGCTGGATGTGAAC (p.Val1048=)
c.3090_3102delinsGCTGGATGTGAAC (p.Val1030=)
c.3015_3027delinsGCTGGATGTGAAC (p.Val1005=)
c.2610_2622delinsGCTGGATGTGAAC (p.Val870=)
c.1968_1980delinsGCTGGATGTGAAC (p.Val656=)
n.3393_3405delinsGCTGGATGTGAAC
n.82+2096_82+2108delinsGTTCACATCCAGC
10g.71706899delCA2573053289CDH23c.2956del (p.Leu986TrpfsTer3)
c.2387del
c.2971del (p.Leu991TrpfsTer3)
c.1731del
c.3151del (p.Leu1051TrpfsTer3)
c.3085del (p.Leu1029TrpfsTer3)
c.3145del (p.Leu1049TrpfsTer3)
c.3091del (p.Leu1031TrpfsTer3)
c.3016del (p.Leu1006TrpfsTer3)
c.2611del (p.Leu871TrpfsTer3)
c.1969del (p.Leu657TrpfsTer3)
n.3394del
n.82+2107del
 ClinVar dbSNP
10g.71706899C>ACA377140245CDH23c.2956C>A (p.Leu986Met)
c.2387C>A
c.2971C>A (p.Leu991Met)
c.1731C>A
c.3151C>A (p.Leu1051Met)
c.3085C>A (p.Leu1029Met)
c.3145C>A (p.Leu1049Met)
c.3091C>A (p.Leu1031Met)
c.3016C>A (p.Leu1006Met)
c.2611C>A (p.Leu871Met)
c.1969C>A (p.Leu657Met)
n.3394C>A
n.82+2107G>T
 gnomAD v4
10g.71706899C>GCA377140246CDH23c.2956C>G (p.Leu986Val)
c.2387C>G
c.2971C>G (p.Leu991Val)
c.1731C>G
c.3151C>G (p.Leu1051Val)
c.3085C>G (p.Leu1029Val)
c.3145C>G (p.Leu1049Val)
c.3091C>G (p.Leu1031Val)
c.3016C>G (p.Leu1006Val)
c.2611C>G (p.Leu871Val)
c.1969C>G (p.Leu657Val)
n.3394C>G
n.82+2107G>C
10g.71706899C>TCA470061729CDH23c.2956C>T (p.Leu986=)
c.2387C>T
c.2971C>T (p.Leu991=)
c.1731C>T
c.3151C>T (p.Leu1051=)
c.3085C>T (p.Leu1029=)
c.3145C>T (p.Leu1049=)
c.3091C>T (p.Leu1031=)
c.3016C>T (p.Leu1006=)
c.2611C>T (p.Leu871=)
c.1969C>T (p.Leu657=)
n.3394C>T
n.82+2107G>A
 gnomAD v4
10g.71706899_71706910delCA1918837939CDH23c.2956_2967del (p.Leu986_Asn989del)
c.2387_2398del
c.2971_2982del (p.Leu991_Asn994del)
c.1731_1742del
c.3151_3162del (p.Leu1051_Asn1054del)
c.3085_3096del (p.Leu1029_Asn1032del)
c.3145_3156del (p.Leu1049_Asn1052del)
c.3091_3102del (p.Leu1031_Asn1034del)
c.3016_3027del (p.Leu1006_Asn1009del)
c.2611_2622del (p.Leu871_Asn874del)
c.1969_1980del (p.Leu657_Asn660del)
n.3394_3405del
n.82+2096_82+2107del
 ClinVar dbSNP gnomAD v4
10g.71706900T>ACA377140249CDH23c.2957T>A (p.Leu986Gln)
c.2388T>A
c.2972T>A (p.Leu991Gln)
c.1732T>A
c.3152T>A (p.Leu1051Gln)
c.3086T>A (p.Leu1029Gln)
c.3146T>A (p.Leu1049Gln)
c.3092T>A (p.Leu1031Gln)
c.3017T>A (p.Leu1006Gln)
c.2612T>A (p.Leu871Gln)
c.1970T>A (p.Leu657Gln)
n.3395T>A
n.82+2106A>T
10g.71706900T>CCA377140251CDH23c.2957T>C (p.Leu986Pro)
c.2388T>C
c.2972T>C (p.Leu991Pro)
c.1732T>C
c.3152T>C (p.Leu1051Pro)
c.3086T>C (p.Leu1029Pro)
c.3146T>C (p.Leu1049Pro)
c.3092T>C (p.Leu1031Pro)
c.3017T>C (p.Leu1006Pro)
c.2612T>C (p.Leu871Pro)
c.1970T>C (p.Leu657Pro)
n.3395T>C
n.82+2106A>G
 gnomAD v4
10g.71706900T>GCA377140252CDH23c.2957T>G (p.Leu986Arg)
c.2388T>G
c.2972T>G (p.Leu991Arg)
c.1732T>G
c.3152T>G (p.Leu1051Arg)
c.3086T>G (p.Leu1029Arg)
c.3146T>G (p.Leu1049Arg)
c.3092T>G (p.Leu1031Arg)
c.3017T>G (p.Leu1006Arg)
c.2612T>G (p.Leu871Arg)
c.1970T>G (p.Leu657Arg)
n.3395T>G
n.82+2106A>C
10g.71706901G>ACA137346CDH23c.2958G>A (p.Leu986=)
c.2389G>A
c.2973G>A (p.Leu991=)
c.1733G>A
c.3153G>A (p.Leu1051=)
c.3087G>A (p.Leu1029=)
c.3147G>A (p.Leu1049=)
c.3093G>A (p.Leu1031=)
c.3018G>A (p.Leu1006=)
c.2613G>A (p.Leu871=)
c.1971G>A (p.Leu657=)
n.3396G>A
n.82+2105C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706901G>CCA470061730CDH23c.2958G>C (p.Leu986=)
c.2389G>C
c.2973G>C (p.Leu991=)
c.1733G>C
c.3153G>C (p.Leu1051=)
c.3087G>C (p.Leu1029=)
c.3147G>C (p.Leu1049=)
c.3093G>C (p.Leu1031=)
c.3018G>C (p.Leu1006=)
c.2613G>C (p.Leu871=)
c.1971G>C (p.Leu657=)
n.3396G>C
n.82+2105C>G
10g.71706901G=CA1918837942CDH23c.2958G= (p.Leu986=)
c.2389G=
c.2973G= (p.Leu991=)
c.1733G=
c.3153G= (p.Leu1051=)
c.3087G= (p.Leu1029=)
c.3147G= (p.Leu1049=)
c.3093G= (p.Leu1031=)
c.3018G= (p.Leu1006=)
c.2613G= (p.Leu871=)
c.1971G= (p.Leu657=)
n.3396G=
n.82+2105C=
10g.71706901G>TCA470061731CDH23c.2958G>T (p.Leu986=)
c.2389G>T
c.2973G>T (p.Leu991=)
c.1733G>T
c.3153G>T (p.Leu1051=)
c.3087G>T (p.Leu1029=)
c.3147G>T (p.Leu1049=)
c.3093G>T (p.Leu1031=)
c.3018G>T (p.Leu1006=)
c.2613G>T (p.Leu871=)
c.1971G>T (p.Leu657=)
n.3396G>T
n.82+2105C>A
 gnomAD v4
10g.71706902G>ACA5544406CDH23c.2959G>A (p.Asp987Asn)
c.2390G>A
c.2974G>A (p.Asp992Asn)
c.1734G>A
c.3154G>A (p.Asp1052Asn)
c.3088G>A (p.Asp1030Asn)
c.3148G>A (p.Asp1050Asn)
c.3094G>A (p.Asp1032Asn)
c.3019G>A (p.Asp1007Asn)
c.2614G>A (p.Asp872Asn)
c.1972G>A (p.Asp658Asn)
n.3397G>A
n.82+2104C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706902G>CCA377140257CDH23c.2959G>C (p.Asp987His)
c.2390G>C
c.2974G>C (p.Asp992His)
c.1734G>C
c.3154G>C (p.Asp1052His)
c.3088G>C (p.Asp1030His)
c.3148G>C (p.Asp1050His)
c.3094G>C (p.Asp1032His)
c.3019G>C (p.Asp1007His)
c.2614G>C (p.Asp872His)
c.1972G>C (p.Asp658His)
n.3397G>C
n.82+2104C>G
10g.71706902G=CA1918837945CDH23c.2959G= (p.Asp987=)
c.2390G=
c.2974G= (p.Asp992=)
c.1734G=
c.3154G= (p.Asp1052=)
c.3088G= (p.Asp1030=)
c.3148G= (p.Asp1050=)
c.3094G= (p.Asp1032=)
c.3019G= (p.Asp1007=)
c.2614G= (p.Asp872=)
c.1972G= (p.Asp658=)
n.3397G=
n.82+2104C=
10g.71706902G>TCA377140259CDH23c.2959G>T (p.Asp987Tyr)
c.2390G>T
c.2974G>T (p.Asp992Tyr)
c.1734G>T
c.3154G>T (p.Asp1052Tyr)
c.3088G>T (p.Asp1030Tyr)
c.3148G>T (p.Asp1050Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2614G>T (p.Asp872Tyr)
c.1972G>T (p.Asp658Tyr)
n.3397G>T
n.82+2104C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71706903A>CCA377140261CDH23c.2960A>C (p.Asp987Ala)
c.2391A>C
c.2975A>C (p.Asp992Ala)
c.1735A>C
c.3155A>C (p.Asp1052Ala)
c.3089A>C (p.Asp1030Ala)
c.3149A>C (p.Asp1050Ala)
c.3095A>C (p.Asp1032Ala)
c.3020A>C (p.Asp1007Ala)
c.2615A>C (p.Asp872Ala)
c.1973A>C (p.Asp658Ala)
n.3398A>C
n.82+2103T>G
 gnomAD v4
10g.71706903A>GCA377140263CDH23c.2960A>G (p.Asp987Gly)
c.2391A>G
c.2975A>G (p.Asp992Gly)
c.1735A>G
c.3155A>G (p.Asp1052Gly)
c.3089A>G (p.Asp1030Gly)
c.3149A>G (p.Asp1050Gly)
c.3095A>G (p.Asp1032Gly)
c.3020A>G (p.Asp1007Gly)
c.2615A>G (p.Asp872Gly)
c.1973A>G (p.Asp658Gly)
n.3398A>G
n.82+2103T>C
10g.71706903A>TCA377140265CDH23c.2960A>T (p.Asp987Val)
c.2391A>T
c.2975A>T (p.Asp992Val)
c.1735A>T
c.3155A>T (p.Asp1052Val)
c.3089A>T (p.Asp1030Val)
c.3149A>T (p.Asp1050Val)
c.3095A>T (p.Asp1032Val)
c.3020A>T (p.Asp1007Val)
c.2615A>T (p.Asp872Val)
c.1973A>T (p.Asp658Val)
n.3398A>T
n.82+2103T>A
 gnomAD v4
10g.71706904T>ACA377140710CDH23c.2961T>A (p.Asp987Glu)
c.2392T>A
c.2976T>A (p.Asp992Glu)
c.1736T>A
c.3156T>A (p.Asp1052Glu)
c.3090T>A (p.Asp1030Glu)
c.3150T>A (p.Asp1050Glu)
c.3096T>A (p.Asp1032Glu)
c.3021T>A (p.Asp1007Glu)
c.2616T>A (p.Asp872Glu)
c.1974T>A (p.Asp658Glu)
n.3399T>A
n.82+2102A>T
 gnomAD v4
10g.71706904T>CCA470061847CDH23c.2961T>C (p.Asp987=)
c.2392T>C
c.2976T>C (p.Asp992=)
c.1736T>C
c.3156T>C (p.Asp1052=)
c.3090T>C (p.Asp1030=)
c.3150T>C (p.Asp1050=)
c.3096T>C (p.Asp1032=)
c.3021T>C (p.Asp1007=)
c.2616T>C (p.Asp872=)
c.1974T>C (p.Asp658=)
n.3399T>C
n.82+2102A>G
 dbSNP gnomAD v4
10g.71706904T>GCA377140713CDH23c.2961T>G (p.Asp987Glu)
c.2392T>G
c.2976T>G (p.Asp992Glu)
c.1736T>G
c.3156T>G (p.Asp1052Glu)
c.3090T>G (p.Asp1030Glu)
c.3150T>G (p.Asp1050Glu)
c.3096T>G (p.Asp1032Glu)
c.3021T>G (p.Asp1007Glu)
c.2616T>G (p.Asp872Glu)
c.1974T>G (p.Asp658Glu)
n.3399T>G
n.82+2102A>C
10g.71706904T=CA1918837947CDH23c.2961T= (p.Asp987=)
c.2392T=
c.2976T= (p.Asp992=)
c.1736T=
c.3156T= (p.Asp1052=)
c.3090T= (p.Asp1030=)
c.3150T= (p.Asp1050=)
c.3096T= (p.Asp1032=)
c.3021T= (p.Asp1007=)
c.2616T= (p.Asp872=)
c.1974T= (p.Asp658=)
n.3399T=
n.82+2102A=
10g.71706905G>ACA5544407CDH23c.2962G>A (p.Val988Met)
c.2393G>A
c.2977G>A (p.Val993Met)
c.1737G>A
c.3157G>A (p.Val1053Met)
c.3091G>A (p.Val1031Met)
c.3151G>A (p.Val1051Met)
c.3097G>A (p.Val1033Met)
c.3022G>A (p.Val1008Met)
c.2617G>A (p.Val873Met)
c.1975G>A (p.Val659Met)
n.3400G>A
n.82+2101C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706905G>CCA377140715CDH23c.2962G>C (p.Val988Leu)
c.2393G>C
c.2977G>C (p.Val993Leu)
c.1737G>C
c.3157G>C (p.Val1053Leu)
c.3091G>C (p.Val1031Leu)
c.3151G>C (p.Val1051Leu)
c.3097G>C (p.Val1033Leu)
c.3022G>C (p.Val1008Leu)
c.2617G>C (p.Val873Leu)
c.1975G>C (p.Val659Leu)
n.3400G>C
n.82+2101C>G
10g.71706905G=CA1918837951CDH23c.2962G= (p.Val988=)
c.2393G=
c.2977G= (p.Val993=)
c.1737G=
c.3157G= (p.Val1053=)
c.3091G= (p.Val1031=)
c.3151G= (p.Val1051=)
c.3097G= (p.Val1033=)
c.3022G= (p.Val1008=)
c.2617G= (p.Val873=)
c.1975G= (p.Val659=)
n.3400G=
n.82+2101C=
10g.71706905G>TCA377140714CDH23c.2962G>T (p.Val988Leu)
c.2393G>T
c.2977G>T (p.Val993Leu)
c.1737G>T
c.3157G>T (p.Val1053Leu)
c.3091G>T (p.Val1031Leu)
c.3151G>T (p.Val1051Leu)
c.3097G>T (p.Val1033Leu)
c.3022G>T (p.Val1008Leu)
c.2617G>T (p.Val873Leu)
c.1975G>T (p.Val659Leu)
n.3400G>T
n.82+2101C>A
10g.71706906T>ACA377140720CDH23c.2963T>A (p.Val988Glu)
c.2394T>A
c.2978T>A (p.Val993Glu)
c.1738T>A
c.3158T>A (p.Val1053Glu)
c.3092T>A (p.Val1031Glu)
c.3152T>A (p.Val1051Glu)
c.3098T>A (p.Val1033Glu)
c.3023T>A (p.Val1008Glu)
c.2618T>A (p.Val873Glu)
c.1976T>A (p.Val659Glu)
n.3401T>A
n.82+2100A>T
 gnomAD v4
10g.71706906T>CCA377140722CDH23c.2963T>C (p.Val988Ala)
c.2394T>C
c.2978T>C (p.Val993Ala)
c.1738T>C
c.3158T>C (p.Val1053Ala)
c.3092T>C (p.Val1031Ala)
c.3152T>C (p.Val1051Ala)
c.3098T>C (p.Val1033Ala)
c.3023T>C (p.Val1008Ala)
c.2618T>C (p.Val873Ala)
c.1976T>C (p.Val659Ala)
n.3401T>C
n.82+2100A>G
10g.71706906T>GCA377140724CDH23c.2963T>G (p.Val988Gly)
c.2394T>G
c.2978T>G (p.Val993Gly)
c.1738T>G
c.3158T>G (p.Val1053Gly)
c.3092T>G (p.Val1031Gly)
c.3152T>G (p.Val1051Gly)
c.3098T>G (p.Val1033Gly)
c.3023T>G (p.Val1008Gly)
c.2618T>G (p.Val873Gly)
c.1976T>G (p.Val659Gly)
n.3401T>G
n.82+2100A>C
10g.71706907G>ACA470061849CDH23c.2964G>A (p.Val988=)
c.2395G>A
c.2979G>A (p.Val993=)
c.1739G>A
c.3159G>A (p.Val1053=)
c.3093G>A (p.Val1031=)
c.3153G>A (p.Val1051=)
c.3099G>A (p.Val1033=)
c.3024G>A (p.Val1008=)
c.2619G>A (p.Val873=)
c.1977G>A (p.Val659=)
n.3402G>A
n.82+2099C>T
 ClinVar dbSNP gnomAD v2
10g.71706907G>CCA470061852CDH23c.2964G>C (p.Val988=)
c.2395G>C
c.2979G>C (p.Val993=)
c.1739G>C
c.3159G>C (p.Val1053=)
c.3093G>C (p.Val1031=)
c.3153G>C (p.Val1051=)
c.3099G>C (p.Val1033=)
c.3024G>C (p.Val1008=)
c.2619G>C (p.Val873=)
c.1977G>C (p.Val659=)
n.3402G>C
n.82+2099C>G
10g.71706907G=CA1918837953CDH23c.2964G= (p.Val988=)
c.2395G=
c.2979G= (p.Val993=)
c.1739G=
c.3159G= (p.Val1053=)
c.3093G= (p.Val1031=)
c.3153G= (p.Val1051=)
c.3099G= (p.Val1033=)
c.3024G= (p.Val1008=)
c.2619G= (p.Val873=)
c.1977G= (p.Val659=)
n.3402G=
n.82+2099C=
10g.71706907G>TCA470061850CDH23c.2964G>T (p.Val988=)
c.2395G>T
c.2979G>T (p.Val993=)
c.1739G>T
c.3159G>T (p.Val1053=)
c.3093G>T (p.Val1031=)
c.3153G>T (p.Val1051=)
c.3099G>T (p.Val1033=)
c.3024G>T (p.Val1008=)
c.2619G>T (p.Val873=)
c.1977G>T (p.Val659=)
n.3402G>T
n.82+2099C>A
 gnomAD v4
10g.71706908A>CCA377140727CDH23c.2965A>C (p.Asn989His)
c.2396A>C
c.2980A>C (p.Asn994His)
c.1740A>C
c.3160A>C (p.Asn1054His)
c.3094A>C (p.Asn1032His)
c.3154A>C (p.Asn1052His)
c.3100A>C (p.Asn1034His)
c.3025A>C (p.Asn1009His)
c.2620A>C (p.Asn874His)
c.1978A>C (p.Asn660His)
n.3403A>C
n.82+2098T>G
10g.71706908A>GCA377140729CDH23c.2965A>G (p.Asn989Asp)
c.2396A>G
c.2980A>G (p.Asn994Asp)
c.1740A>G
c.3160A>G (p.Asn1054Asp)
c.3094A>G (p.Asn1032Asp)
c.3154A>G (p.Asn1052Asp)
c.3100A>G (p.Asn1034Asp)
c.3025A>G (p.Asn1009Asp)
c.2620A>G (p.Asn874Asp)
c.1978A>G (p.Asn660Asp)
n.3403A>G
n.82+2098T>C
10g.71706908A>TCA377140733CDH23c.2965A>T (p.Asn989Tyr)
c.2396A>T
c.2980A>T (p.Asn994Tyr)
c.1740A>T
c.3160A>T (p.Asn1054Tyr)
c.3094A>T (p.Asn1032Tyr)
c.3154A>T (p.Asn1052Tyr)
c.3100A>T (p.Asn1034Tyr)
c.3025A>T (p.Asn1009Tyr)
c.2620A>T (p.Asn874Tyr)
c.1978A>T (p.Asn660Tyr)
n.3403A>T
n.82+2098T>A
10g.71706909A=CA1918837956CDH23c.2966A= (p.Asn989=)
c.2397A=
c.2981A= (p.Asn994=)
c.1741A=
c.3161A= (p.Asn1054=)
c.3095A= (p.Asn1032=)
c.3155A= (p.Asn1052=)
c.3101A= (p.Asn1034=)
c.3026A= (p.Asn1009=)
c.2621A= (p.Asn874=)
c.1979A= (p.Asn660=)
n.3404A=
n.82+2097T=
10g.71706909A>CCA377140736CDH23c.2966A>C (p.Asn989Thr)
c.2397A>C
c.2981A>C (p.Asn994Thr)
c.1741A>C
c.3161A>C (p.Asn1054Thr)
c.3095A>C (p.Asn1032Thr)
c.3155A>C (p.Asn1052Thr)
c.3101A>C (p.Asn1034Thr)
c.3026A>C (p.Asn1009Thr)
c.2621A>C (p.Asn874Thr)
c.1979A>C (p.Asn660Thr)
n.3404A>C
n.82+2097T>G
10g.71706909A>GCA377140740CDH23c.2966A>G (p.Asn989Ser)
c.2397A>G
c.2981A>G (p.Asn994Ser)
c.1741A>G
c.3161A>G (p.Asn1054Ser)
c.3095A>G (p.Asn1032Ser)
c.3155A>G (p.Asn1052Ser)
c.3101A>G (p.Asn1034Ser)
c.3026A>G (p.Asn1009Ser)
c.2621A>G (p.Asn874Ser)
c.1979A>G (p.Asn660Ser)
n.3404A>G
n.82+2097T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71706909A>TCA377140743CDH23c.2966A>T (p.Asn989Ile)
c.2397A>T
c.2981A>T (p.Asn994Ile)
c.1741A>T
c.3161A>T (p.Asn1054Ile)
c.3095A>T (p.Asn1032Ile)
c.3155A>T (p.Asn1052Ile)
c.3101A>T (p.Asn1034Ile)
c.3026A>T (p.Asn1009Ile)
c.2621A>T (p.Asn874Ile)
c.1979A>T (p.Asn660Ile)
n.3404A>T
n.82+2097T>A
10g.71706910C>ACA377140746CDH23c.2967C>A (p.Asn989Lys)
c.2398C>A
c.2982C>A (p.Asn994Lys)
c.1742C>A
c.3162C>A (p.Asn1054Lys)
c.3096C>A (p.Asn1032Lys)
c.3156C>A (p.Asn1052Lys)
c.3102C>A (p.Asn1034Lys)
c.3027C>A (p.Asn1009Lys)
c.2622C>A (p.Asn874Lys)
c.1980C>A (p.Asn660Lys)
n.3405C>A
n.82+2096G>T
 gnomAD v4
10g.71706910C=CA1918837957CDH23c.2967C= (p.Asn989=)
c.2398C=
c.2982C= (p.Asn994=)
c.1742C=
c.3162C= (p.Asn1054=)
c.3096C= (p.Asn1032=)
c.3156C= (p.Asn1052=)
c.3102C= (p.Asn1034=)
c.3027C= (p.Asn1009=)
c.2622C= (p.Asn874=)
c.1980C= (p.Asn660=)
n.3405C=
n.82+2096G=
10g.71706910C>GCA377140747CDH23c.2967C>G (p.Asn989Lys)
c.2398C>G
c.2982C>G (p.Asn994Lys)
c.1742C>G
c.3162C>G (p.Asn1054Lys)
c.3096C>G (p.Asn1032Lys)
c.3156C>G (p.Asn1052Lys)
c.3102C>G (p.Asn1034Lys)
c.3027C>G (p.Asn1009Lys)
c.2622C>G (p.Asn874Lys)
c.1980C>G (p.Asn660Lys)
n.3405C>G
n.82+2096G>C
10g.71706910C>TCA5544408CDH23c.2967C>T (p.Asn989=)
c.2398C>T
c.2982C>T (p.Asn994=)
c.1742C>T
c.3162C>T (p.Asn1054=)
c.3096C>T (p.Asn1032=)
c.3156C>T (p.Asn1052=)
c.3102C>T (p.Asn1034=)
c.3027C>T (p.Asn1009=)
c.2622C>T (p.Asn874=)
c.1980C>T (p.Asn660=)
n.3405C>T
n.82+2096G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706911G>ACA5544409CDH23c.2968G>A (p.Asp990Asn)
c.2399G>A
c.2983G>A (p.Asp995Asn)
c.1743G>A
c.3163G>A (p.Asp1055Asn)
c.3097G>A (p.Asp1033Asn)
c.3157G>A (p.Asp1053Asn)
c.3103G>A (p.Asp1035Asn)
c.3028G>A (p.Asp1010Asn)
c.2623G>A (p.Asp875Asn)
c.1981G>A (p.Asp661Asn)
n.3406G>A
n.82+2095C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.71706911G>CCA377140761CDH23c.2968G>C (p.Asp990His)
c.2399G>C
c.2983G>C (p.Asp995His)
c.1743G>C
c.3163G>C (p.Asp1055His)
c.3097G>C (p.Asp1033His)
c.3157G>C (p.Asp1053His)
c.3103G>C (p.Asp1035His)
c.3028G>C (p.Asp1010His)
c.2623G>C (p.Asp875His)
c.1981G>C (p.Asp661His)
n.3406G>C
n.82+2095C>G
 gnomAD v4
10g.71706911G=CA1918837961CDH23c.2968G= (p.Asp990=)
c.2399G=
c.2983G= (p.Asp995=)
c.1743G=
c.3163G= (p.Asp1055=)
c.3097G= (p.Asp1033=)
c.3157G= (p.Asp1053=)
c.3103G= (p.Asp1035=)
c.3028G= (p.Asp1010=)
c.2623G= (p.Asp875=)
c.1981G= (p.Asp661=)
n.3406G=
n.82+2095C=
10g.71706911G>TCA377140758CDH23c.2968G>T (p.Asp990Tyr)
c.2399G>T
c.2983G>T (p.Asp995Tyr)
c.1743G>T
c.3163G>T (p.Asp1055Tyr)
c.3097G>T (p.Asp1033Tyr)
c.3157G>T (p.Asp1053Tyr)
c.3103G>T (p.Asp1035Tyr)
c.3028G>T (p.Asp1010Tyr)
c.2623G>T (p.Asp875Tyr)
c.1981G>T (p.Asp661Tyr)
n.3406G>T
n.82+2095C>A
 gnomAD v4
10g.71706912A>CCA377140769CDH23c.2969A>C (p.Asp990Ala)
c.2400A>C
c.2984A>C (p.Asp995Ala)
c.1744A>C
c.3164A>C (p.Asp1055Ala)
c.3098A>C (p.Asp1033Ala)
c.3158A>C (p.Asp1053Ala)
c.3104A>C (p.Asp1035Ala)
c.3029A>C (p.Asp1010Ala)
c.2624A>C (p.Asp875Ala)
c.1982A>C (p.Asp661Ala)
n.3407A>C
n.82+2094T>G
10g.71706912A>GCA377140770CDH23c.2969A>G (p.Asp990Gly)
c.2400A>G
c.2984A>G (p.Asp995Gly)
c.1744A>G
c.3164A>G (p.Asp1055Gly)
c.3098A>G (p.Asp1033Gly)
c.3158A>G (p.Asp1053Gly)
c.3104A>G (p.Asp1035Gly)
c.3029A>G (p.Asp1010Gly)
c.2624A>G (p.Asp875Gly)
c.1982A>G (p.Asp661Gly)
n.3407A>G
n.82+2094T>C
10g.71706912A>TCA377140771CDH23c.2969A>T (p.Asp990Val)
c.2400A>T
c.2984A>T (p.Asp995Val)
c.1744A>T
c.3164A>T (p.Asp1055Val)
c.3098A>T (p.Asp1033Val)
c.3158A>T (p.Asp1053Val)
c.3104A>T (p.Asp1035Val)
c.3029A>T (p.Asp1010Val)
c.2624A>T (p.Asp875Val)
c.1982A>T (p.Asp661Val)
n.3407A>T
n.82+2094T>A
10g.71706913C>ACA377140772CDH23c.2970C>A (p.Asp990Glu)
c.2401C>A
c.2985C>A (p.Asp995Glu)
c.1745C>A
c.3165C>A (p.Asp1055Glu)
c.3099C>A (p.Asp1033Glu)
c.3159C>A (p.Asp1053Glu)
c.3105C>A (p.Asp1035Glu)
c.3030C>A (p.Asp1010Glu)
c.2625C>A (p.Asp875Glu)
c.1983C>A (p.Asp661Glu)
n.3408C>A
n.82+2093G>T
10g.71706913C=CA1918837966CDH23c.2970C= (p.Asp990=)
c.2401C=
c.2985C= (p.Asp995=)
c.1745C=
c.3165C= (p.Asp1055=)
c.3099C= (p.Asp1033=)
c.3159C= (p.Asp1053=)
c.3105C= (p.Asp1035=)
c.3030C= (p.Asp1010=)
c.2625C= (p.Asp875=)
c.1983C= (p.Asp661=)
n.3408C=
n.82+2093G=
10g.71706913C>GCA377140774CDH23c.2970C>G (p.Asp990Glu)
c.2401C>G
c.2985C>G (p.Asp995Glu)
c.1745C>G
c.3165C>G (p.Asp1055Glu)
c.3099C>G (p.Asp1033Glu)
c.3159C>G (p.Asp1053Glu)
c.3105C>G (p.Asp1035Glu)
c.3030C>G (p.Asp1010Glu)
c.2625C>G (p.Asp875Glu)
c.1983C>G (p.Asp661Glu)
n.3408C>G
n.82+2093G>C
10g.71706913C>TCA133595CDH23c.2970C>T (p.Asp990=)
c.2401C>T
c.2985C>T (p.Asp995=)
c.1745C>T
c.3165C>T (p.Asp1055=)
c.3099C>T (p.Asp1033=)
c.3159C>T (p.Asp1053=)
c.3105C>T (p.Asp1035=)
c.3030C>T (p.Asp1010=)
c.2625C>T (p.Asp875=)
c.1983C>T (p.Asp661=)
n.3408C>T
n.82+2093G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706914G>ACA5544410CDH23c.2971G>A (p.Glu991Lys)
c.2402G>A
c.2986G>A (p.Glu996Lys)
c.1746G>A
c.3166G>A (p.Glu1056Lys)
c.3100G>A (p.Glu1034Lys)
c.3160G>A (p.Glu1054Lys)
c.3106G>A (p.Glu1036Lys)
c.3031G>A (p.Glu1011Lys)
c.2626G>A (p.Glu876Lys)
c.1984G>A (p.Glu662Lys)
n.3409G>A
n.82+2092C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706914G>CCA377140785CDH23c.2971G>C (p.Glu991Gln)
c.2402G>C
c.2986G>C (p.Glu996Gln)
c.1746G>C
c.3166G>C (p.Glu1056Gln)
c.3100G>C (p.Glu1034Gln)
c.3160G>C (p.Glu1054Gln)
c.3106G>C (p.Glu1036Gln)
c.3031G>C (p.Glu1011Gln)
c.2626G>C (p.Glu876Gln)
c.1984G>C (p.Glu662Gln)
n.3409G>C
n.82+2092C>G
10g.71706914G=CA1918837976CDH23c.2971G= (p.Glu991=)
c.2402G=
c.2986G= (p.Glu996=)
c.1746G=
c.3166G= (p.Glu1056=)
c.3100G= (p.Glu1034=)
c.3160G= (p.Glu1054=)
c.3106G= (p.Glu1036=)
c.3031G= (p.Glu1011=)
c.2626G= (p.Glu876=)
c.1984G= (p.Glu662=)
n.3409G=
n.82+2092C=
10g.71706914G>TCA377140789CDH23c.2971G>T (p.Glu991Ter)
c.2402G>T
c.2986G>T (p.Glu996Ter)
c.1746G>T
c.3166G>T (p.Glu1056Ter)
c.3100G>T (p.Glu1034Ter)
c.3160G>T (p.Glu1054Ter)
c.3106G>T (p.Glu1036Ter)
c.3031G>T (p.Glu1011Ter)
c.2626G>T (p.Glu876Ter)
c.1984G>T (p.Glu662Ter)
n.3409G>T
n.82+2092C>A
 gnomAD v4
10g.71706915A>CCA377140795CDH23c.2972A>C (p.Glu991Ala)
c.2403A>C
c.2987A>C (p.Glu996Ala)
c.1747A>C
c.3167A>C (p.Glu1056Ala)
c.3101A>C (p.Glu1034Ala)
c.3161A>C (p.Glu1054Ala)
c.3107A>C (p.Glu1036Ala)
c.3032A>C (p.Glu1011Ala)
c.2627A>C (p.Glu876Ala)
c.1985A>C (p.Glu662Ala)
n.3410A>C
n.82+2091T>G
 gnomAD v4
10g.71706915A>GCA377140798CDH23c.2972A>G (p.Glu991Gly)
c.2403A>G
c.2987A>G (p.Glu996Gly)
c.1747A>G
c.3167A>G (p.Glu1056Gly)
c.3101A>G (p.Glu1034Gly)
c.3161A>G (p.Glu1054Gly)
c.3107A>G (p.Glu1036Gly)
c.3032A>G (p.Glu1011Gly)
c.2627A>G (p.Glu876Gly)
c.1985A>G (p.Glu662Gly)
n.3410A>G
n.82+2091T>C
 gnomAD v4
10g.71706915A>TCA377140800CDH23c.2972A>T (p.Glu991Val)
c.2403A>T
c.2987A>T (p.Glu996Val)
c.1747A>T
c.3167A>T (p.Glu1056Val)
c.3101A>T (p.Glu1034Val)
c.3161A>T (p.Glu1054Val)
c.3107A>T (p.Glu1036Val)
c.3032A>T (p.Glu1011Val)
c.2627A>T (p.Glu876Val)
c.1985A>T (p.Glu662Val)
n.3410A>T
n.82+2091T>A
 gnomAD v4
10g.71706916G>ACA470061857CDH23c.2973G>A (p.Glu991=)
c.2404G>A
c.2988G>A (p.Glu996=)
c.1748G>A
c.3168G>A (p.Glu1056=)
c.3102G>A (p.Glu1034=)
c.3162G>A (p.Glu1054=)
c.3108G>A (p.Glu1036=)
c.3033G>A (p.Glu1011=)
c.2628G>A (p.Glu876=)
c.1986G>A (p.Glu662=)
n.3411G>A
n.82+2090C>T
10g.71706916G>CCA377140802CDH23c.2973G>C (p.Glu991Asp)
c.2404G>C
c.2988G>C (p.Glu996Asp)
c.1748G>C
c.3168G>C (p.Glu1056Asp)
c.3102G>C (p.Glu1034Asp)
c.3162G>C (p.Glu1054Asp)
c.3108G>C (p.Glu1036Asp)
c.3033G>C (p.Glu1011Asp)
c.2628G>C (p.Glu876Asp)
c.1986G>C (p.Glu662Asp)
n.3411G>C
n.82+2090C>G
10g.71706916G>TCA377140803CDH23c.2973G>T (p.Glu991Asp)
c.2404G>T
c.2988G>T (p.Glu996Asp)
c.1748G>T
c.3168G>T (p.Glu1056Asp)
c.3102G>T (p.Glu1034Asp)
c.3162G>T (p.Glu1054Asp)
c.3108G>T (p.Glu1036Asp)
c.3033G>T (p.Glu1011Asp)
c.2628G>T (p.Glu876Asp)
c.1986G>T (p.Glu662Asp)
n.3411G>T
n.82+2090C>A
10g.71706917A>CCA377140805CDH23c.2974A>C (p.Thr992Pro)
c.2405A>C
c.2989A>C (p.Thr997Pro)
c.1749A>C
c.3169A>C (p.Thr1057Pro)
c.3103A>C (p.Thr1035Pro)
c.3163A>C (p.Thr1055Pro)
c.3109A>C (p.Thr1037Pro)
c.3034A>C (p.Thr1012Pro)
c.2629A>C (p.Thr877Pro)
c.1987A>C (p.Thr663Pro)
n.3412A>C
n.82+2089T>G
10g.71706917A>GCA377140814CDH23c.2974A>G (p.Thr992Ala)
c.2405A>G
c.2989A>G (p.Thr997Ala)
c.1749A>G
c.3169A>G (p.Thr1057Ala)
c.3103A>G (p.Thr1035Ala)
c.3163A>G (p.Thr1055Ala)
c.3109A>G (p.Thr1037Ala)
c.3034A>G (p.Thr1012Ala)
c.2629A>G (p.Thr877Ala)
c.1987A>G (p.Thr663Ala)
n.3412A>G
n.82+2089T>C
10g.71706917A>TCA377140809CDH23c.2974A>T (p.Thr992Ser)
c.2405A>T
c.2989A>T (p.Thr997Ser)
c.1749A>T
c.3169A>T (p.Thr1057Ser)
c.3103A>T (p.Thr1035Ser)
c.3163A>T (p.Thr1055Ser)
c.3109A>T (p.Thr1037Ser)
c.3034A>T (p.Thr1012Ser)
c.2629A>T (p.Thr877Ser)
c.1987A>T (p.Thr663Ser)
n.3412A>T
n.82+2089T>A
10g.71706918C>ACA377140819CDH23c.2975C>A (p.Thr992Lys)
c.2406C>A
c.2990C>A (p.Thr997Lys)
c.1750C>A
c.3170C>A (p.Thr1057Lys)
c.3104C>A (p.Thr1035Lys)
c.3164C>A (p.Thr1055Lys)
c.3110C>A (p.Thr1037Lys)
c.3035C>A (p.Thr1012Lys)
c.2630C>A (p.Thr877Lys)
c.1988C>A (p.Thr663Lys)
n.3413C>A
n.82+2088G>T
 gnomAD v4
10g.71706918C=CA1918837979CDH23c.2975C= (p.Thr992=)
c.2406C=
c.2990C= (p.Thr997=)
c.1750C=
c.3170C= (p.Thr1057=)
c.3104C= (p.Thr1035=)
c.3164C= (p.Thr1055=)
c.3110C= (p.Thr1037=)
c.3035C= (p.Thr1012=)
c.2630C= (p.Thr877=)
c.1988C= (p.Thr663=)
n.3413C=
n.82+2088G=
10g.71706918C>GCA377140825CDH23c.2975C>G (p.Thr992Arg)
c.2406C>G
c.2990C>G (p.Thr997Arg)
c.1750C>G
c.3170C>G (p.Thr1057Arg)
c.3104C>G (p.Thr1035Arg)
c.3164C>G (p.Thr1055Arg)
c.3110C>G (p.Thr1037Arg)
c.3035C>G (p.Thr1012Arg)
c.2630C>G (p.Thr877Arg)
c.1988C>G (p.Thr663Arg)
n.3413C>G
n.82+2088G>C
10g.71706918C>TCA5544411CDH23c.2975C>T (p.Thr992Met)
c.2406C>T
c.2990C>T (p.Thr997Met)
c.1750C>T
c.3170C>T (p.Thr1057Met)
c.3104C>T (p.Thr1035Met)
c.3164C>T (p.Thr1055Met)
c.3110C>T (p.Thr1037Met)
c.3035C>T (p.Thr1012Met)
c.2630C>T (p.Thr877Met)
c.1988C>T (p.Thr663Met)
n.3413C>T
n.82+2088G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.71706919G>ACA5544412CDH23c.2976G>A (p.Thr992=)
c.2407G>A
c.2991G>A (p.Thr997=)
c.1751G>A
c.3171G>A (p.Thr1057=)
c.3105G>A (p.Thr1035=)
c.3165G>A (p.Thr1055=)
c.3111G>A (p.Thr1037=)
c.3036G>A (p.Thr1012=)
c.2631G>A (p.Thr877=)
c.1989G>A (p.Thr663=)
n.3414G>A
n.82+2087C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706919G>CCA470061860CDH23c.2976G>C (p.Thr992=)
c.2407G>C
c.2991G>C (p.Thr997=)
c.1751G>C
c.3171G>C (p.Thr1057=)
c.3105G>C (p.Thr1035=)
c.3165G>C (p.Thr1055=)
c.3111G>C (p.Thr1037=)
c.3036G>C (p.Thr1012=)
c.2631G>C (p.Thr877=)
c.1989G>C (p.Thr663=)
n.3414G>C
n.82+2087C>G
10g.71706919G=CA1918837986CDH23c.2976G= (p.Thr992=)
c.2407G=
c.2991G= (p.Thr997=)
c.1751G=
c.3171G= (p.Thr1057=)
c.3105G= (p.Thr1035=)
c.3165G= (p.Thr1055=)
c.3111G= (p.Thr1037=)
c.3036G= (p.Thr1012=)
c.2631G= (p.Thr877=)
c.1989G= (p.Thr663=)
n.3414G=
n.82+2087C=
10g.71706919G>TCA5544413CDH23c.2976G>T (p.Thr992=)
c.2407G>T
c.2991G>T (p.Thr997=)
c.1751G>T
c.3171G>T (p.Thr1057=)
c.3105G>T (p.Thr1035=)
c.3165G>T (p.Thr1055=)
c.3111G>T (p.Thr1037=)
c.3036G>T (p.Thr1012=)
c.2631G>T (p.Thr877=)
c.1989G>T (p.Thr663=)
n.3414G>T
n.82+2087C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706920C>ACA5544414CDH23c.2977C>A (p.Pro993Thr)
c.2408C>A
c.2992C>A (p.Pro998Thr)
c.1752C>A
c.3172C>A (p.Pro1058Thr)
c.3106C>A (p.Pro1036Thr)
c.3166C>A (p.Pro1056Thr)
c.3112C>A (p.Pro1038Thr)
c.3037C>A (p.Pro1013Thr)
c.2632C>A (p.Pro878Thr)
c.1990C>A (p.Pro664Thr)
n.3415C>A
n.82+2086G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706920C=CA1918837991CDH23c.2977C= (p.Pro993=)
c.2408C=
c.2992C= (p.Pro998=)
c.1752C=
c.3172C= (p.Pro1058=)
c.3106C= (p.Pro1036=)
c.3166C= (p.Pro1056=)
c.3112C= (p.Pro1038=)
c.3037C= (p.Pro1013=)
c.2632C= (p.Pro878=)
c.1990C= (p.Pro664=)
n.3415C=
n.82+2086G=
10g.71706920C>GCA377140843CDH23c.2977C>G (p.Pro993Ala)
c.2408C>G
c.2992C>G (p.Pro998Ala)
c.1752C>G
c.3172C>G (p.Pro1058Ala)
c.3106C>G (p.Pro1036Ala)
c.3166C>G (p.Pro1056Ala)
c.3112C>G (p.Pro1038Ala)
c.3037C>G (p.Pro1013Ala)
c.2632C>G (p.Pro878Ala)
c.1990C>G (p.Pro664Ala)
n.3415C>G
n.82+2086G>C
10g.71706920C>TCA377140847CDH23c.2977C>T (p.Pro993Ser)
c.2408C>T
c.2992C>T (p.Pro998Ser)
c.1752C>T
c.3172C>T (p.Pro1058Ser)
c.3106C>T (p.Pro1036Ser)
c.3166C>T (p.Pro1056Ser)
c.3112C>T (p.Pro1038Ser)
c.3037C>T (p.Pro1013Ser)
c.2632C>T (p.Pro878Ser)
c.1990C>T (p.Pro664Ser)
n.3415C>T
n.82+2086G>A
 dbSNP gnomAD v2
10g.71706922delCA2609546224CDH23c.2979del (p.Thr994ProfsTer24)
c.2410del
c.2994del (p.Thr999ProfsTer24)
c.1754del
c.3174del (p.Thr1059ProfsTer24)
c.3108del (p.Thr1037ProfsTer24)
c.3168del (p.Thr1057ProfsTer24)
c.3114del (p.Thr1039ProfsTer24)
c.3039del (p.Thr1014ProfsTer24)
c.2634del (p.Thr879ProfsTer24)
c.1992del (p.Thr665ProfsTer24)
n.3417del
n.82+2086del
 dbSNP gnomAD v4
10g.71706921C>ACA377140849CDH23c.2978C>A (p.Pro993His)
c.2409C>A
c.2993C>A (p.Pro998His)
c.1753C>A
c.3173C>A (p.Pro1058His)
c.3107C>A (p.Pro1036His)
c.3167C>A (p.Pro1056His)
c.3113C>A (p.Pro1038His)
c.3038C>A (p.Pro1013His)
c.2633C>A (p.Pro878His)
c.1991C>A (p.Pro664His)
n.3416C>A
n.82+2085G>T
10g.71706921C>GCA377140856CDH23c.2978C>G (p.Pro993Arg)
c.2409C>G
c.2993C>G (p.Pro998Arg)
c.1753C>G
c.3173C>G (p.Pro1058Arg)
c.3107C>G (p.Pro1036Arg)
c.3167C>G (p.Pro1056Arg)
c.3113C>G (p.Pro1038Arg)
c.3038C>G (p.Pro1013Arg)
c.2633C>G (p.Pro878Arg)
c.1991C>G (p.Pro664Arg)
n.3416C>G
n.82+2085G>C
10g.71706921C>TCA377140860CDH23c.2978C>T (p.Pro993Leu)
c.2409C>T
c.2993C>T (p.Pro998Leu)
c.1753C>T
c.3173C>T (p.Pro1058Leu)
c.3107C>T (p.Pro1036Leu)
c.3167C>T (p.Pro1056Leu)
c.3113C>T (p.Pro1038Leu)
c.3038C>T (p.Pro1013Leu)
c.2633C>T (p.Pro878Leu)
c.1991C>T (p.Pro664Leu)
n.3416C>T
n.82+2085G>A
10g.71706922C>ACA470061861CDH23c.2979C>A (p.Pro993=)
c.2410C>A
c.2994C>A (p.Pro998=)
c.1754C>A
c.3174C>A (p.Pro1058=)
c.3108C>A (p.Pro1036=)
c.3168C>A (p.Pro1056=)
c.3114C>A (p.Pro1038=)
c.3039C>A (p.Pro1013=)
c.2634C>A (p.Pro878=)
c.1992C>A (p.Pro664=)
n.3417C>A
n.82+2084G>T
10g.71706922C=CA1918837996CDH23c.2979C= (p.Pro993=)
c.2410C=
c.2994C= (p.Pro998=)
c.1754C=
c.3174C= (p.Pro1058=)
c.3108C= (p.Pro1036=)
c.3168C= (p.Pro1056=)
c.3114C= (p.Pro1038=)
c.3039C= (p.Pro1013=)
c.2634C= (p.Pro878=)
c.1992C= (p.Pro664=)
n.3417C=
n.82+2084G=
10g.71706922C>GCA470061862CDH23c.2979C>G (p.Pro993=)
c.2410C>G
c.2994C>G (p.Pro998=)
c.1754C>G
c.3174C>G (p.Pro1058=)
c.3108C>G (p.Pro1036=)
c.3168C>G (p.Pro1056=)
c.3114C>G (p.Pro1038=)
c.3039C>G (p.Pro1013=)
c.2634C>G (p.Pro878=)
c.1992C>G (p.Pro664=)
n.3417C>G
n.82+2084G>C
10g.71706922C>TCA470061863CDH23c.2979C>T (p.Pro993=)
c.2410C>T
c.2994C>T (p.Pro998=)
c.1754C>T
c.3174C>T (p.Pro1058=)
c.3108C>T (p.Pro1036=)
c.3168C>T (p.Pro1056=)
c.3114C>T (p.Pro1038=)
c.3039C>T (p.Pro1013=)
c.2634C>T (p.Pro878=)
c.1992C>T (p.Pro664=)
n.3417C>T
n.82+2084G>A
 dbSNP gnomAD v3 gnomAD v4
10g.71706923A=CA1918838000CDH23c.2980A= (p.Thr994=)
c.2411A=
c.2995A= (p.Thr999=)
c.1755A=
c.3175A= (p.Thr1059=)
c.3109A= (p.Thr1037=)
c.3169A= (p.Thr1057=)
c.3115A= (p.Thr1039=)
c.3040A= (p.Thr1014=)
c.2635A= (p.Thr879=)
c.1993A= (p.Thr665=)
n.3418A=
n.82+2083T=
10g.71706923A>CCA377140867CDH23c.2980A>C (p.Thr994Pro)
c.2411A>C
c.2995A>C (p.Thr999Pro)
c.1755A>C
c.3175A>C (p.Thr1059Pro)
c.3109A>C (p.Thr1037Pro)
c.3169A>C (p.Thr1057Pro)
c.3115A>C (p.Thr1039Pro)
c.3040A>C (p.Thr1014Pro)
c.2635A>C (p.Thr879Pro)
c.1993A>C (p.Thr665Pro)
n.3418A>C
n.82+2083T>G
 dbSNP
10g.71706923A>GCA377140873CDH23c.2980A>G (p.Thr994Ala)
c.2411A>G
c.2995A>G (p.Thr999Ala)
c.1755A>G
c.3175A>G (p.Thr1059Ala)
c.3109A>G (p.Thr1037Ala)
c.3169A>G (p.Thr1057Ala)
c.3115A>G (p.Thr1039Ala)
c.3040A>G (p.Thr1014Ala)
c.2635A>G (p.Thr879Ala)
c.1993A>G (p.Thr665Ala)
n.3418A>G
n.82+2083T>C
10g.71706923A>TCA377140872CDH23c.2980A>T (p.Thr994Ser)
c.2411A>T
c.2995A>T (p.Thr999Ser)
c.1755A>T
c.3175A>T (p.Thr1059Ser)
c.3109A>T (p.Thr1037Ser)
c.3169A>T (p.Thr1057Ser)
c.3115A>T (p.Thr1039Ser)
c.3040A>T (p.Thr1014Ser)
c.2635A>T (p.Thr879Ser)
c.1993A>T (p.Thr665Ser)
n.3418A>T
n.82+2083T>A
10g.71706924C>ACA377140874CDH23c.2981C>A (p.Thr994Asn)
c.2412C>A
c.2996C>A (p.Thr999Asn)
c.1756C>A
c.3176C>A (p.Thr1059Asn)
c.3110C>A (p.Thr1037Asn)
c.3170C>A (p.Thr1057Asn)
c.3116C>A (p.Thr1039Asn)
c.3041C>A (p.Thr1014Asn)
c.2636C>A (p.Thr879Asn)
c.1994C>A (p.Thr665Asn)
n.3419C>A
n.82+2082G>T
10g.71706924C>GCA377140878CDH23c.2981C>G (p.Thr994Ser)
c.2412C>G
c.2996C>G (p.Thr999Ser)
c.1756C>G
c.3176C>G (p.Thr1059Ser)
c.3110C>G (p.Thr1037Ser)
c.3170C>G (p.Thr1057Ser)
c.3116C>G (p.Thr1039Ser)
c.3041C>G (p.Thr1014Ser)
c.2636C>G (p.Thr879Ser)
c.1994C>G (p.Thr665Ser)
n.3419C>G
n.82+2082G>C
10g.71706924C>TCA377140875CDH23c.2981C>T (p.Thr994Ile)
c.2412C>T
c.2996C>T (p.Thr999Ile)
c.1756C>T
c.3176C>T (p.Thr1059Ile)
c.3110C>T (p.Thr1037Ile)
c.3170C>T (p.Thr1057Ile)
c.3116C>T (p.Thr1039Ile)
c.3041C>T (p.Thr1014Ile)
c.2636C>T (p.Thr879Ile)
c.1994C>T (p.Thr665Ile)
n.3419C>T
n.82+2082G>A
 ClinVar dbSNP
10g.71706924_71706925insACA2609546225CDH23c.2981_2982insA (p.Phe995LeufsTer?)
c.2412_2413insA
c.2996_2997insA (p.Phe1000LeufsTer?)
c.1756_1757insA
c.3176_3177insA (p.Phe1060LeufsTer?)
c.3110_3111insA (p.Phe1038LeufsTer?)
c.3170_3171insA (p.Phe1058LeufsTer?)
c.3116_3117insA (p.Phe1040LeufsTer?)
c.3041_3042insA (p.Phe1015LeufsTer?)
c.2636_2637insA (p.Phe880LeufsTer?)
c.1994_1995insA (p.Phe666LeufsTer?)
n.3419_3420insA
n.82+2081_82+2082insT
 gnomAD v4
10g.71706925C>ACA470061867CDH23c.2982C>A (p.Thr994=)
c.2413C>A
c.2997C>A (p.Thr999=)
c.1757C>A
c.3177C>A (p.Thr1059=)
c.3111C>A (p.Thr1037=)
c.3171C>A (p.Thr1057=)
c.3117C>A (p.Thr1039=)
c.3042C>A (p.Thr1014=)
c.2637C>A (p.Thr879=)
c.1995C>A (p.Thr665=)
n.3420C>A
n.82+2081G>T
 gnomAD v4
10g.71706925C=CA1918838004CDH23c.2982C= (p.Thr994=)
c.2413C=
c.2997C= (p.Thr999=)
c.1757C=
c.3177C= (p.Thr1059=)
c.3111C= (p.Thr1037=)
c.3171C= (p.Thr1057=)
c.3117C= (p.Thr1039=)
c.3042C= (p.Thr1014=)
c.2637C= (p.Thr879=)
c.1995C= (p.Thr665=)
n.3420C=
n.82+2081G=
10g.71706925C>GCA470061868CDH23c.2982C>G (p.Thr994=)
c.2413C>G
c.2997C>G (p.Thr999=)
c.1757C>G
c.3177C>G (p.Thr1059=)
c.3111C>G (p.Thr1037=)
c.3171C>G (p.Thr1057=)
c.3117C>G (p.Thr1039=)
c.3042C>G (p.Thr1014=)
c.2637C>G (p.Thr879=)
c.1995C>G (p.Thr665=)
n.3420C>G
n.82+2081G>C
 gnomAD v4
10g.71706925C>TCA470061869CDH23c.2982C>T (p.Thr994=)
c.2413C>T
c.2997C>T (p.Thr999=)
c.1757C>T
c.3177C>T (p.Thr1059=)
c.3111C>T (p.Thr1037=)
c.3171C>T (p.Thr1057=)
c.3117C>T (p.Thr1039=)
c.3042C>T (p.Thr1014=)
c.2637C>T (p.Thr879=)
c.1995C>T (p.Thr665=)
n.3420C>T
n.82+2081G>A
 ClinVar dbSNP
10g.71706925_71706926delinsCTCA1918838003CDH23c.2982_2983delinsCT (p.Thr994=)
c.2413_2414delinsCT
c.2997_2998delinsCT (p.Thr999=)
c.1757_1758delinsCT
c.3177_3178delinsCT (p.Thr1059=)
c.3111_3112delinsCT (p.Thr1037=)
c.3171_3172delinsCT (p.Thr1057=)
c.3117_3118delinsCT (p.Thr1039=)
c.3042_3043delinsCT (p.Thr1014=)
c.2637_2638delinsCT (p.Thr879=)
c.1995_1996delinsCT (p.Thr665=)
n.3420_3421delinsCT
n.82+2080_82+2081delinsAG
10g.71706926T>ACA377140880CDH23c.2983T>A (p.Phe995Ile)
c.2414T>A
c.2998T>A (p.Phe1000Ile)
c.1758T>A
c.3178T>A (p.Phe1060Ile)
c.3112T>A (p.Phe1038Ile)
c.3172T>A (p.Phe1058Ile)
c.3118T>A (p.Phe1040Ile)
c.3043T>A (p.Phe1015Ile)
c.2638T>A (p.Phe880Ile)
c.1996T>A (p.Phe666Ile)
n.3421T>A
n.82+2080A>T
10g.71706926T>CCA377140884CDH23c.2983T>C (p.Phe995Leu)
c.2414T>C
c.2998T>C (p.Phe1000Leu)
c.1758T>C
c.3178T>C (p.Phe1060Leu)
c.3112T>C (p.Phe1038Leu)
c.3172T>C (p.Phe1058Leu)
c.3118T>C (p.Phe1040Leu)
c.3043T>C (p.Phe1015Leu)
c.2638T>C (p.Phe880Leu)
c.1996T>C (p.Phe666Leu)
n.3421T>C
n.82+2080A>G
10g.71706926T>GCA377140882CDH23c.2983T>G (p.Phe995Val)
c.2414T>G
c.2998T>G (p.Phe1000Val)
c.1758T>G
c.3178T>G (p.Phe1060Val)
c.3112T>G (p.Phe1038Val)
c.3172T>G (p.Phe1058Val)
c.3118T>G (p.Phe1040Val)
c.3043T>G (p.Phe1015Val)
c.2638T>G (p.Phe880Val)
c.1996T>G (p.Phe666Val)
n.3421T>G
n.82+2080A>C
10g.71706927delCA658797435CDH23c.2984del (p.Phe995SerfsTer23)
c.2415del
c.2999del (p.Phe1000SerfsTer23)
c.1759del
c.3179del (p.Phe1060SerfsTer23)
c.3113del (p.Phe1038SerfsTer23)
c.3173del (p.Phe1058SerfsTer23)
c.3119del (p.Phe1040SerfsTer23)
c.3044del (p.Phe1015SerfsTer23)
c.2639del (p.Phe880SerfsTer23)
c.1997del (p.Phe666SerfsTer23)
n.3422del
n.82+2080del
 ClinVar dbSNP gnomAD v4
10g.71706926_71706927insATTTACGCA2609546226CDH23c.2983_2984insATTTACG (p.Phe995TyrfsTer?)
c.2414_2415insATTTACG
c.2998_2999insATTTACG (p.Phe1000TyrfsTer?)
c.1758_1759insATTTACG
c.3178_3179insATTTACG (p.Phe1060TyrfsTer?)
c.3112_3113insATTTACG (p.Phe1038TyrfsTer?)
c.3172_3173insATTTACG (p.Phe1058TyrfsTer?)
c.3118_3119insATTTACG (p.Phe1040TyrfsTer?)
c.3043_3044insATTTACG (p.Phe1015TyrfsTer?)
c.2638_2639insATTTACG (p.Phe880TyrfsTer?)
c.1996_1997insATTTACG (p.Phe666TyrfsTer?)
n.3421_3422insATTTACG
n.82+2079_82+2080insCGTAAAT
 gnomAD v4
10g.71706927T>ACA377140891CDH23c.2984T>A (p.Phe995Tyr)
c.2415T>A
c.2999T>A (p.Phe1000Tyr)
c.1759T>A
c.3179T>A (p.Phe1060Tyr)
c.3113T>A (p.Phe1038Tyr)
c.3173T>A (p.Phe1058Tyr)
c.3119T>A (p.Phe1040Tyr)
c.3044T>A (p.Phe1015Tyr)
c.2639T>A (p.Phe880Tyr)
c.1997T>A (p.Phe666Tyr)
n.3422T>A
n.82+2079A>T
10g.71706927T>CCA377140897CDH23c.2984T>C (p.Phe995Ser)
c.2415T>C
c.2999T>C (p.Phe1000Ser)
c.1759T>C
c.3179T>C (p.Phe1060Ser)
c.3113T>C (p.Phe1038Ser)
c.3173T>C (p.Phe1058Ser)
c.3119T>C (p.Phe1040Ser)
c.3044T>C (p.Phe1015Ser)
c.2639T>C (p.Phe880Ser)
c.1997T>C (p.Phe666Ser)
n.3422T>C
n.82+2079A>G
10g.71706927T>GCA377140894CDH23c.2984T>G (p.Phe995Cys)
c.2415T>G
c.2999T>G (p.Phe1000Cys)
c.1759T>G
c.3179T>G (p.Phe1060Cys)
c.3113T>G (p.Phe1038Cys)
c.3173T>G (p.Phe1058Cys)
c.3119T>G (p.Phe1040Cys)
c.3044T>G (p.Phe1015Cys)
c.2639T>G (p.Phe880Cys)
c.1997T>G (p.Phe666Cys)
n.3422T>G
n.82+2079A>C
10g.71706928C>ACA377140905CDH23c.2985C>A (p.Phe995Leu)
c.2416C>A
c.3000C>A (p.Phe1000Leu)
c.1760C>A
c.3180C>A (p.Phe1060Leu)
c.3114C>A (p.Phe1038Leu)
c.3174C>A (p.Phe1058Leu)
c.3120C>A (p.Phe1040Leu)
c.3045C>A (p.Phe1015Leu)
c.2640C>A (p.Phe880Leu)
c.1998C>A (p.Phe666Leu)
n.3423C>A
n.82+2078G>T
 gnomAD v4
10g.71706928C>GCA377140908CDH23c.2985C>G (p.Phe995Leu)
c.2416C>G
c.3000C>G (p.Phe1000Leu)
c.1760C>G
c.3180C>G (p.Phe1060Leu)
c.3114C>G (p.Phe1038Leu)
c.3174C>G (p.Phe1058Leu)
c.3120C>G (p.Phe1040Leu)
c.3045C>G (p.Phe1015Leu)
c.2640C>G (p.Phe880Leu)
c.1998C>G (p.Phe666Leu)
n.3423C>G
n.82+2078G>C
10g.71706928C>TCA470061872CDH23c.2985C>T (p.Phe995=)
c.2416C>T
c.3000C>T (p.Phe1000=)
c.1760C>T
c.3180C>T (p.Phe1060=)
c.3114C>T (p.Phe1038=)
c.3174C>T (p.Phe1058=)
c.3120C>T (p.Phe1040=)
c.3045C>T (p.Phe1015=)
c.2640C>T (p.Phe880=)
c.1998C>T (p.Phe666=)
n.3423C>T
n.82+2078G>A
10g.71706928_71706929insCTAGCA2609546227CDH23c.2985_2986insCTAG (p.Phe996LeufsTer?)
c.2416_2417insCTAG
c.3000_3001insCTAG (p.Phe1001LeufsTer?)
c.1760_1761insCTAG
c.3180_3181insCTAG (p.Phe1061LeufsTer?)
c.3114_3115insCTAG (p.Phe1039LeufsTer?)
c.3174_3175insCTAG (p.Phe1059LeufsTer?)
c.3120_3121insCTAG (p.Phe1041LeufsTer?)
c.3045_3046insCTAG (p.Phe1016LeufsTer?)
c.2640_2641insCTAG (p.Phe881LeufsTer?)
c.1998_1999insCTAG (p.Phe667LeufsTer?)
n.3423_3424insCTAG
n.82+2077_82+2078insCTAG
 gnomAD v4
10g.71706929T>ACA377140915CDH23c.2986T>A (p.Phe996Ile)
c.2417T>A
c.3001T>A (p.Phe1001Ile)
c.1761T>A
c.3181T>A (p.Phe1061Ile)
c.3115T>A (p.Phe1039Ile)
c.3175T>A (p.Phe1059Ile)
c.3121T>A (p.Phe1041Ile)
c.3046T>A (p.Phe1016Ile)
c.2641T>A (p.Phe881Ile)
c.1999T>A (p.Phe667Ile)
n.3424T>A
n.82+2077A>T
10g.71706929T>CCA377140919CDH23c.2986T>C (p.Phe996Leu)
c.2417T>C
c.3001T>C (p.Phe1001Leu)
c.1761T>C
c.3181T>C (p.Phe1061Leu)
c.3115T>C (p.Phe1039Leu)
c.3175T>C (p.Phe1059Leu)
c.3121T>C (p.Phe1041Leu)
c.3046T>C (p.Phe1016Leu)
c.2641T>C (p.Phe881Leu)
c.1999T>C (p.Phe667Leu)
n.3424T>C
n.82+2077A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71706929T>GCA377140923CDH23c.2986T>G (p.Phe996Val)
c.2417T>G
c.3001T>G (p.Phe1001Val)
c.1761T>G
c.3181T>G (p.Phe1061Val)
c.3115T>G (p.Phe1039Val)
c.3175T>G (p.Phe1059Val)
c.3121T>G (p.Phe1041Val)
c.3046T>G (p.Phe1016Val)
c.2641T>G (p.Phe881Val)
c.1999T>G (p.Phe667Val)
n.3424T>G
n.82+2077A>C
10g.71706929T=CA1918838013CDH23c.2986T= (p.Phe996=)
c.2417T=
c.3001T= (p.Phe1001=)
c.1761T=
c.3181T= (p.Phe1061=)
c.3115T= (p.Phe1039=)
c.3175T= (p.Phe1059=)
c.3121T= (p.Phe1041=)
c.3046T= (p.Phe1016=)
c.2641T= (p.Phe881=)
c.1999T= (p.Phe667=)
n.3424T=
n.82+2077A=
10g.71706930T>ACA377140927CDH23c.2987T>A (p.Phe996Tyr)
c.2418T>A
c.3002T>A (p.Phe1001Tyr)
c.1762T>A
c.3182T>A (p.Phe1061Tyr)
c.3116T>A (p.Phe1039Tyr)
c.3176T>A (p.Phe1059Tyr)
c.3122T>A (p.Phe1041Tyr)
c.3047T>A (p.Phe1016Tyr)
c.2642T>A (p.Phe881Tyr)
c.2000T>A (p.Phe667Tyr)
n.3425T>A
n.82+2076A>T
10g.71706930T>CCA377140929CDH23c.2987T>C (p.Phe996Ser)
c.2418T>C
c.3002T>C (p.Phe1001Ser)
c.1762T>C
c.3182T>C (p.Phe1061Ser)
c.3116T>C (p.Phe1039Ser)
c.3176T>C (p.Phe1059Ser)
c.3122T>C (p.Phe1041Ser)
c.3047T>C (p.Phe1016Ser)
c.2642T>C (p.Phe881Ser)
c.2000T>C (p.Phe667Ser)
n.3425T>C
n.82+2076A>G
 gnomAD v4
10g.71706930T>GCA377140932CDH23c.2987T>G (p.Phe996Cys)
c.2418T>G
c.3002T>G (p.Phe1001Cys)
c.1762T>G
c.3182T>G (p.Phe1061Cys)
c.3116T>G (p.Phe1039Cys)
c.3176T>G (p.Phe1059Cys)
c.3122T>G (p.Phe1041Cys)
c.3047T>G (p.Phe1016Cys)
c.2642T>G (p.Phe881Cys)
c.2000T>G (p.Phe667Cys)
n.3425T>G
n.82+2076A>C
10g.71706931C>ACA377140936CDH23c.2988C>A (p.Phe996Leu)
c.2419C>A
c.3003C>A (p.Phe1001Leu)
c.1763C>A
c.3183C>A (p.Phe1061Leu)
c.3117C>A (p.Phe1039Leu)
c.3177C>A (p.Phe1059Leu)
c.3123C>A (p.Phe1041Leu)
c.3048C>A (p.Phe1016Leu)
c.2643C>A (p.Phe881Leu)
c.2001C>A (p.Phe667Leu)
n.3426C>A
n.82+2075G>T
 gnomAD v4
10g.71706931C>GCA377140945CDH23c.2988C>G (p.Phe996Leu)
c.2419C>G
c.3003C>G (p.Phe1001Leu)
c.1763C>G
c.3183C>G (p.Phe1061Leu)
c.3117C>G (p.Phe1039Leu)
c.3177C>G (p.Phe1059Leu)
c.3123C>G (p.Phe1041Leu)
c.3048C>G (p.Phe1016Leu)
c.2643C>G (p.Phe881Leu)
c.2001C>G (p.Phe667Leu)
n.3426C>G
n.82+2075G>C
10g.71706931C>TCA470061875CDH23c.2988C>T (p.Phe996=)
c.2419C>T
c.3003C>T (p.Phe1001=)
c.1763C>T
c.3183C>T (p.Phe1061=)
c.3117C>T (p.Phe1039=)
c.3177C>T (p.Phe1059=)
c.3123C>T (p.Phe1041=)
c.3048C>T (p.Phe1016=)
c.2643C>T (p.Phe881=)
c.2001C>T (p.Phe667=)
n.3426C>T
n.82+2075G>A
10g.71706931_71706932insTGCCCTGGGCTCCCA2609546228CDH23c.2988_2989insTGCCCTGGGCTCC (p.Pro997CysfsTer?)
c.2419_2420insTGCCCTGGGCTCC
c.3003_3004insTGCCCTGGGCTCC (p.Pro1002CysfsTer?)
c.1763_1764insTGCCCTGGGCTCC
c.3183_3184insTGCCCTGGGCTCC (p.Pro1062CysfsTer?)
c.3117_3118insTGCCCTGGGCTCC (p.Pro1040CysfsTer?)
c.3177_3178insTGCCCTGGGCTCC (p.Pro1060CysfsTer?)
c.3123_3124insTGCCCTGGGCTCC (p.Pro1042CysfsTer?)
c.3048_3049insTGCCCTGGGCTCC (p.Pro1017CysfsTer?)
c.2643_2644insTGCCCTGGGCTCC (p.Pro882CysfsTer?)
c.2001_2002insTGCCCTGGGCTCC (p.Pro668CysfsTer?)
n.3426_3427insTGCCCTGGGCTCC
n.82+2075_82+2076insGAGCCCAGGGCAG
 gnomAD v4
10g.71706932C>ACA377140966CDH23c.2989C>A (p.Pro997Thr)
c.2420C>A
c.3004C>A (p.Pro1002Thr)
c.1764C>A
c.3184C>A (p.Pro1062Thr)
c.3118C>A (p.Pro1040Thr)
c.3178C>A (p.Pro1060Thr)
c.3124C>A (p.Pro1042Thr)
c.3049C>A (p.Pro1017Thr)
c.2644C>A (p.Pro882Thr)
c.2002C>A (p.Pro668Thr)
n.3427C>A
n.82+2074G>T
 gnomAD v4
10g.71706932C>GCA377140963CDH23c.2989C>G (p.Pro997Ala)
c.2420C>G
c.3004C>G (p.Pro1002Ala)
c.1764C>G
c.3184C>G (p.Pro1062Ala)
c.3118C>G (p.Pro1040Ala)
c.3178C>G (p.Pro1060Ala)
c.3124C>G (p.Pro1042Ala)
c.3049C>G (p.Pro1017Ala)
c.2644C>G (p.Pro882Ala)
c.2002C>G (p.Pro668Ala)
n.3427C>G
n.82+2074G>C
10g.71706932C>TCA377140958CDH23c.2989C>T (p.Pro997Ser)
c.2420C>T
c.3004C>T (p.Pro1002Ser)
c.1764C>T
c.3184C>T (p.Pro1062Ser)
c.3118C>T (p.Pro1040Ser)
c.3178C>T (p.Pro1060Ser)
c.3124C>T (p.Pro1042Ser)
c.3049C>T (p.Pro1017Ser)
c.2644C>T (p.Pro882Ser)
c.2002C>T (p.Pro668Ser)
n.3427C>T
n.82+2074G>A
 gnomAD v4
10g.71706933C>ACA377140975CDH23c.2990C>A (p.Pro997Gln)
c.2421C>A
c.3005C>A (p.Pro1002Gln)
c.1765C>A
c.3185C>A (p.Pro1062Gln)
c.3119C>A (p.Pro1040Gln)
c.3179C>A (p.Pro1060Gln)
c.3125C>A (p.Pro1042Gln)
c.3050C>A (p.Pro1017Gln)
c.2645C>A (p.Pro882Gln)
c.2003C>A (p.Pro668Gln)
n.3428C>A
n.82+2073G>T
 gnomAD v4
10g.71706933C=CA1918838018CDH23c.2990C= (p.Pro997=)
c.2421C=
c.3005C= (p.Pro1002=)
c.1765C=
c.3185C= (p.Pro1062=)
c.3119C= (p.Pro1040=)
c.3179C= (p.Pro1060=)
c.3125C= (p.Pro1042=)
c.3050C= (p.Pro1017=)
c.2645C= (p.Pro882=)
c.2003C= (p.Pro668=)
n.3428C=
n.82+2073G=
10g.71706933C>GCA377140977CDH23c.2990C>G (p.Pro997Arg)
c.2421C>G
c.3005C>G (p.Pro1002Arg)
c.1765C>G
c.3185C>G (p.Pro1062Arg)
c.3119C>G (p.Pro1040Arg)
c.3179C>G (p.Pro1060Arg)
c.3125C>G (p.Pro1042Arg)
c.3050C>G (p.Pro1017Arg)
c.2645C>G (p.Pro882Arg)
c.2003C>G (p.Pro668Arg)
n.3428C>G
n.82+2073G>C
10g.71706933C>TCA5544415CDH23c.2990C>T (p.Pro997Leu)
c.2421C>T
c.3005C>T (p.Pro1002Leu)
c.1765C>T
c.3185C>T (p.Pro1062Leu)
c.3119C>T (p.Pro1040Leu)
c.3179C>T (p.Pro1060Leu)
c.3125C>T (p.Pro1042Leu)
c.3050C>T (p.Pro1017Leu)
c.2645C>T (p.Pro882Leu)
c.2003C>T (p.Pro668Leu)
n.3428C>T
n.82+2073G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706934G>ACA5544416CDH23c.2991G>A (p.Pro997=)
c.2422G>A
c.3006G>A (p.Pro1002=)
c.1766G>A
c.3186G>A (p.Pro1062=)
c.3120G>A (p.Pro1040=)
c.3180G>A (p.Pro1060=)
c.3126G>A (p.Pro1042=)
c.3051G>A (p.Pro1017=)
c.2646G>A (p.Pro882=)
c.2004G>A (p.Pro668=)
n.3429G>A
n.82+2072C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706934G>CCA470061878CDH23c.2991G>C (p.Pro997=)
c.2422G>C
c.3006G>C (p.Pro1002=)
c.1766G>C
c.3186G>C (p.Pro1062=)
c.3120G>C (p.Pro1040=)
c.3180G>C (p.Pro1060=)
c.3126G>C (p.Pro1042=)
c.3051G>C (p.Pro1017=)
c.2646G>C (p.Pro882=)
c.2004G>C (p.Pro668=)
n.3429G>C
n.82+2072C>G
10g.71706934G=CA1918838024CDH23c.2991G= (p.Pro997=)
c.2422G=
c.3006G= (p.Pro1002=)
c.1766G=
c.3186G= (p.Pro1062=)
c.3120G= (p.Pro1040=)
c.3180G= (p.Pro1060=)
c.3126G= (p.Pro1042=)
c.3051G= (p.Pro1017=)
c.2646G= (p.Pro882=)
c.2004G= (p.Pro668=)
n.3429G=
n.82+2072C=
10g.71706934G>TCA470061876CDH23c.2991G>T (p.Pro997=)
c.2422G>T
c.3006G>T (p.Pro1002=)
c.1766G>T
c.3186G>T (p.Pro1062=)
c.3120G>T (p.Pro1040=)
c.3180G>T (p.Pro1060=)
c.3126G>T (p.Pro1042=)
c.3051G>T (p.Pro1017=)
c.2646G>T (p.Pro882=)
c.2004G>T (p.Pro668=)
n.3429G>T
n.82+2072C>A
 gnomAD v4
10g.71706935G>ACA377140993CDH23c.2992G>A (p.Ala998Thr)
c.2423G>A
c.3007G>A (p.Ala1003Thr)
c.1767G>A
c.3187G>A (p.Ala1063Thr)
c.3121G>A (p.Ala1041Thr)
c.3181G>A (p.Ala1061Thr)
c.3127G>A (p.Ala1043Thr)
c.3052G>A (p.Ala1018Thr)
c.2647G>A (p.Ala883Thr)
c.2005G>A (p.Ala669Thr)
n.3430G>A
n.82+2071C>T
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
10g.71706935G>CCA377140994CDH23c.2992G>C (p.Ala998Pro)
c.2423G>C
c.3007G>C (p.Ala1003Pro)
c.1767G>C
c.3187G>C (p.Ala1063Pro)
c.3121G>C (p.Ala1041Pro)
c.3181G>C (p.Ala1061Pro)
c.3127G>C (p.Ala1043Pro)
c.3052G>C (p.Ala1018Pro)
c.2647G>C (p.Ala883Pro)
c.2005G>C (p.Ala669Pro)
n.3430G>C
n.82+2071C>G
10g.71706935G>TCA377140995CDH23c.2992G>T (p.Ala998Ser)
c.2423G>T
c.3007G>T (p.Ala1003Ser)
c.1767G>T
c.3187G>T (p.Ala1063Ser)
c.3121G>T (p.Ala1041Ser)
c.3181G>T (p.Ala1061Ser)
c.3127G>T (p.Ala1043Ser)
c.3052G>T (p.Ala1018Ser)
c.2647G>T (p.Ala883Ser)
c.2005G>T (p.Ala669Ser)
n.3430G>T
n.82+2071C>A
10g.71706936C>ACA377140996CDH23c.2993C>A (p.Ala998Asp)
c.2424C>A
c.3008C>A (p.Ala1003Asp)
c.1768C>A
c.3188C>A (p.Ala1063Asp)
c.3122C>A (p.Ala1041Asp)
c.3182C>A (p.Ala1061Asp)
c.3128C>A (p.Ala1043Asp)
c.3053C>A (p.Ala1018Asp)
c.2648C>A (p.Ala883Asp)
c.2006C>A (p.Ala669Asp)
n.3431C>A
n.82+2070G>T
 gnomAD v4
10g.71706936C>GCA377140997CDH23c.2993C>G (p.Ala998Gly)
c.2424C>G
c.3008C>G (p.Ala1003Gly)
c.1768C>G
c.3188C>G (p.Ala1063Gly)
c.3122C>G (p.Ala1041Gly)
c.3182C>G (p.Ala1061Gly)
c.3128C>G (p.Ala1043Gly)
c.3053C>G (p.Ala1018Gly)
c.2648C>G (p.Ala883Gly)
c.2006C>G (p.Ala669Gly)
n.3431C>G
n.82+2070G>C
10g.71706936C>TCA377140998CDH23c.2993C>T (p.Ala998Val)
c.2424C>T
c.3008C>T (p.Ala1003Val)
c.1768C>T
c.3188C>T (p.Ala1063Val)
c.3122C>T (p.Ala1041Val)
c.3182C>T (p.Ala1061Val)
c.3128C>T (p.Ala1043Val)
c.3053C>T (p.Ala1018Val)
c.2648C>T (p.Ala883Val)
c.2006C>T (p.Ala669Val)
n.3431C>T
n.82+2070G>A
 dbSNP gnomAD v4
10g.71706936_71706937delinsTTCA645549933CDH23c.2993_2994delinsTT (p.Ala998Val)
c.2424_2425delinsTT
c.3008_3009delinsTT (p.Ala1003Val)
c.1768_1769delinsTT
c.3188_3189delinsTT (p.Ala1063Val)
c.3122_3123delinsTT (p.Ala1041Val)
c.3182_3183delinsTT (p.Ala1061Val)
c.3128_3129delinsTT (p.Ala1043Val)
c.3053_3054delinsTT (p.Ala1018Val)
c.2648_2649delinsTT (p.Ala883Val)
c.2006_2007delinsTT (p.Ala669Val)
n.3431_3432delinsTT
n.82+2069_82+2070delinsAA
 COSMIC COSMIC COSMIC
10g.71706937C>ACA470061881CDH23c.2994C>A (p.Ala998=)
c.2425C>A
c.3009C>A (p.Ala1003=)
c.1769C>A
c.3189C>A (p.Ala1063=)
c.3123C>A (p.Ala1041=)
c.3183C>A (p.Ala1061=)
c.3129C>A (p.Ala1043=)
c.3054C>A (p.Ala1018=)
c.2649C>A (p.Ala883=)
c.2007C>A (p.Ala669=)
n.3432C>A
n.82+2069G>T
 dbSNP
10g.71706937C=CA1918838030CDH23c.2994C= (p.Ala998=)
c.2425C=
c.3009C= (p.Ala1003=)
c.1769C=
c.3189C= (p.Ala1063=)
c.3123C= (p.Ala1041=)
c.3183C= (p.Ala1061=)
c.3129C= (p.Ala1043=)
c.3054C= (p.Ala1018=)
c.2649C= (p.Ala883=)
c.2007C= (p.Ala669=)
n.3432C=
n.82+2069G=
10g.71706937C>GCA470061882CDH23c.2994C>G (p.Ala998=)
c.2425C>G
c.3009C>G (p.Ala1003=)
c.1769C>G
c.3189C>G (p.Ala1063=)
c.3123C>G (p.Ala1041=)
c.3183C>G (p.Ala1061=)
c.3129C>G (p.Ala1043=)
c.3054C>G (p.Ala1018=)
c.2649C>G (p.Ala883=)
c.2007C>G (p.Ala669=)
n.3432C>G
n.82+2069G>C
 ClinVar gnomAD v4
10g.71706937C>TCA5544417CDH23c.2994C>T (p.Ala998=)
c.2425C>T
c.3009C>T (p.Ala1003=)
c.1769C>T
c.3189C>T (p.Ala1063=)
c.3123C>T (p.Ala1041=)
c.3183C>T (p.Ala1061=)
c.3129C>T (p.Ala1043=)
c.3054C>T (p.Ala1018=)
c.2649C>T (p.Ala883=)
c.2007C>T (p.Ala669=)
n.3432C>T
n.82+2069G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706938G>ACA5544418CDH23c.2995G>A (p.Val999Met)
c.2426G>A
c.3010G>A (p.Val1004Met)
c.1770G>A
c.3190G>A (p.Val1064Met)
c.3124G>A (p.Val1042Met)
c.3184G>A (p.Val1062Met)
c.3130G>A (p.Val1044Met)
c.3055G>A (p.Val1019Met)
c.2650G>A (p.Val884Met)
c.2008G>A (p.Val670Met)
n.3433G>A
n.82+2068C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706938G>CCA377141004CDH23c.2995G>C (p.Val999Leu)
c.2426G>C
c.3010G>C (p.Val1004Leu)
c.1770G>C
c.3190G>C (p.Val1064Leu)
c.3124G>C (p.Val1042Leu)
c.3184G>C (p.Val1062Leu)
c.3130G>C (p.Val1044Leu)
c.3055G>C (p.Val1019Leu)
c.2650G>C (p.Val884Leu)
c.2008G>C (p.Val670Leu)
n.3433G>C
n.82+2068C>G
 dbSNP
10g.71706938G=CA1918838039CDH23c.2995G= (p.Val999=)
c.2426G=
c.3010G= (p.Val1004=)
c.1770G=
c.3190G= (p.Val1064=)
c.3124G= (p.Val1042=)
c.3184G= (p.Val1062=)
c.3130G= (p.Val1044=)
c.3055G= (p.Val1019=)
c.2650G= (p.Val884=)
c.2008G= (p.Val670=)
n.3433G=
n.82+2068C=
10g.71706938G>TCA377141002CDH23c.2995G>T (p.Val999Leu)
c.2426G>T
c.3010G>T (p.Val1004Leu)
c.1770G>T
c.3190G>T (p.Val1064Leu)
c.3124G>T (p.Val1042Leu)
c.3184G>T (p.Val1062Leu)
c.3130G>T (p.Val1044Leu)
c.3055G>T (p.Val1019Leu)
c.2650G>T (p.Val884Leu)
c.2008G>T (p.Val670Leu)
n.3433G>T
n.82+2068C>A
10g.71706939T>ACA377141005CDH23c.2996T>A (p.Val999Glu)
c.2427T>A
c.3011T>A (p.Val1004Glu)
c.1771T>A
c.3191T>A (p.Val1064Glu)
c.3125T>A (p.Val1042Glu)
c.3185T>A (p.Val1062Glu)
c.3131T>A (p.Val1044Glu)
c.3056T>A (p.Val1019Glu)
c.2651T>A (p.Val884Glu)
c.2009T>A (p.Val670Glu)
n.3434T>A
n.82+2067A>T
10g.71706939T>CCA5544419CDH23c.2996T>C (p.Val999Ala)
c.2427T>C
c.3011T>C (p.Val1004Ala)
c.1771T>C
c.3191T>C (p.Val1064Ala)
c.3125T>C (p.Val1042Ala)
c.3185T>C (p.Val1062Ala)
c.3131T>C (p.Val1044Ala)
c.3056T>C (p.Val1019Ala)
c.2651T>C (p.Val884Ala)
c.2009T>C (p.Val670Ala)
n.3434T>C
n.82+2067A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706939T>GCA377141009CDH23c.2996T>G (p.Val999Gly)
c.2427T>G
c.3011T>G (p.Val1004Gly)
c.1771T>G
c.3191T>G (p.Val1064Gly)
c.3125T>G (p.Val1042Gly)
c.3185T>G (p.Val1062Gly)
c.3131T>G (p.Val1044Gly)
c.3056T>G (p.Val1019Gly)
c.2651T>G (p.Val884Gly)
c.2009T>G (p.Val670Gly)
n.3434T>G
n.82+2067A>C
10g.71706939T=CA1918838041CDH23c.2996T= (p.Val999=)
c.2427T=
c.3011T= (p.Val1004=)
c.1771T=
c.3191T= (p.Val1064=)
c.3125T= (p.Val1042=)
c.3185T= (p.Val1062=)
c.3131T= (p.Val1044=)
c.3056T= (p.Val1019=)
c.2651T= (p.Val884=)
c.2009T= (p.Val670=)
n.3434T=
n.82+2067A=
10g.71706940G>ACA470061885CDH23c.2997G>A (p.Val999=)
c.2428G>A
c.3012G>A (p.Val1004=)
c.1772G>A
c.3192G>A (p.Val1064=)
c.3126G>A (p.Val1042=)
c.3186G>A (p.Val1062=)
c.3132G>A (p.Val1044=)
c.3057G>A (p.Val1019=)
c.2652G>A (p.Val884=)
c.2010G>A (p.Val670=)
n.3435G>A
n.82+2066C>T
 gnomAD v4
10g.71706940G>CCA470061886CDH23c.2997G>C (p.Val999=)
c.2428G>C
c.3012G>C (p.Val1004=)
c.1772G>C
c.3192G>C (p.Val1064=)
c.3126G>C (p.Val1042=)
c.3186G>C (p.Val1062=)
c.3132G>C (p.Val1044=)
c.3057G>C (p.Val1019=)
c.2652G>C (p.Val884=)
c.2010G>C (p.Val670=)
n.3435G>C
n.82+2066C>G
10g.71706940G>TCA470061887CDH23c.2997G>T (p.Val999=)
c.2428G>T
c.3012G>T (p.Val1004=)
c.1772G>T
c.3192G>T (p.Val1064=)
c.3126G>T (p.Val1042=)
c.3186G>T (p.Val1062=)
c.3132G>T (p.Val1044=)
c.3057G>T (p.Val1019=)
c.2652G>T (p.Val884=)
c.2010G>T (p.Val670=)
n.3435G>T
n.82+2066C>A
 gnomAD v4
10g.71706941T>ACA377141012CDH23c.2998T>A (p.Tyr1000Asn)
c.2429T>A
c.3013T>A (p.Tyr1005Asn)
c.1773T>A
c.3193T>A (p.Tyr1065Asn)
c.3127T>A (p.Tyr1043Asn)
c.3187T>A (p.Tyr1063Asn)
c.3133T>A (p.Tyr1045Asn)
c.3058T>A (p.Tyr1020Asn)
c.2653T>A (p.Tyr885Asn)
c.2011T>A (p.Tyr671Asn)
n.3436T>A
n.82+2065A>T
10g.71706941T>CCA377141016CDH23c.2998T>C (p.Tyr1000His)
c.2429T>C
c.3013T>C (p.Tyr1005His)
c.1773T>C
c.3193T>C (p.Tyr1065His)
c.3127T>C (p.Tyr1043His)
c.3187T>C (p.Tyr1063His)
c.3133T>C (p.Tyr1045His)
c.3058T>C (p.Tyr1020His)
c.2653T>C (p.Tyr885His)
c.2011T>C (p.Tyr671His)
n.3436T>C
n.82+2065A>G
10g.71706941T>GCA377141018CDH23c.2998T>G (p.Tyr1000Asp)
c.2429T>G
c.3013T>G (p.Tyr1005Asp)
c.1773T>G
c.3193T>G (p.Tyr1065Asp)
c.3127T>G (p.Tyr1043Asp)
c.3187T>G (p.Tyr1063Asp)
c.3133T>G (p.Tyr1045Asp)
c.3058T>G (p.Tyr1020Asp)
c.2653T>G (p.Tyr885Asp)
c.2011T>G (p.Tyr671Asp)
n.3436T>G
n.82+2065A>C
10g.71706942A>CCA377141022CDH23c.2999A>C (p.Tyr1000Ser)
c.2430A>C
c.3014A>C (p.Tyr1005Ser)
c.1774A>C
c.3194A>C (p.Tyr1065Ser)
c.3128A>C (p.Tyr1043Ser)
c.3188A>C (p.Tyr1063Ser)
c.3134A>C (p.Tyr1045Ser)
c.3059A>C (p.Tyr1020Ser)
c.2654A>C (p.Tyr885Ser)
c.2012A>C (p.Tyr671Ser)
n.3437A>C
n.82+2064T>G
10g.71706942A>GCA377141027CDH23c.2999A>G (p.Tyr1000Cys)
c.2430A>G
c.3014A>G (p.Tyr1005Cys)
c.1774A>G
c.3194A>G (p.Tyr1065Cys)
c.3128A>G (p.Tyr1043Cys)
c.3188A>G (p.Tyr1063Cys)
c.3134A>G (p.Tyr1045Cys)
c.3059A>G (p.Tyr1020Cys)
c.2654A>G (p.Tyr885Cys)
c.2012A>G (p.Tyr671Cys)
n.3437A>G
n.82+2064T>C
10g.71706942A>TCA377141030CDH23c.2999A>T (p.Tyr1000Phe)
c.2430A>T
c.3014A>T (p.Tyr1005Phe)
c.1774A>T
c.3194A>T (p.Tyr1065Phe)
c.3128A>T (p.Tyr1043Phe)
c.3188A>T (p.Tyr1063Phe)
c.3134A>T (p.Tyr1045Phe)
c.3059A>T (p.Tyr1020Phe)
c.2654A>T (p.Tyr885Phe)
c.2012A>T (p.Tyr671Phe)
n.3437A>T
n.82+2064T>A
 gnomAD v4
10g.71706943C>ACA377141034CDH23c.3000C>A (p.Tyr1000Ter)
c.2431C>A
c.3015C>A (p.Tyr1005Ter)
c.1775C>A
c.3195C>A (p.Tyr1065Ter)
c.3129C>A (p.Tyr1043Ter)
c.3189C>A (p.Tyr1063Ter)
c.3135C>A (p.Tyr1045Ter)
c.3060C>A (p.Tyr1020Ter)
c.2655C>A (p.Tyr885Ter)
c.2013C>A (p.Tyr671Ter)
n.3438C>A
n.82+2063G>T
10g.71706943C>GCA377141035CDH23c.3000C>G (p.Tyr1000Ter)
c.2431C>G
c.3015C>G (p.Tyr1005Ter)
c.1775C>G
c.3195C>G (p.Tyr1065Ter)
c.3129C>G (p.Tyr1043Ter)
c.3189C>G (p.Tyr1063Ter)
c.3135C>G (p.Tyr1045Ter)
c.3060C>G (p.Tyr1020Ter)
c.2655C>G (p.Tyr885Ter)
c.2013C>G (p.Tyr671Ter)
n.3438C>G
n.82+2063G>C
10g.71706943C>TCA470061890CDH23c.3000C>T (p.Tyr1000=)
c.2431C>T
c.3015C>T (p.Tyr1005=)
c.1775C>T
c.3195C>T (p.Tyr1065=)
c.3129C>T (p.Tyr1043=)
c.3189C>T (p.Tyr1063=)
c.3135C>T (p.Tyr1045=)
c.3060C>T (p.Tyr1020=)
c.2655C>T (p.Tyr885=)
c.2013C>T (p.Tyr671=)
n.3438C>T
n.82+2063G>A
 ClinVar
10g.71706944A>CCA377141051CDH23c.3001A>C (p.Asn1001His)
c.2432A>C
c.3016A>C (p.Asn1006His)
c.1776A>C
c.3196A>C (p.Asn1066His)
c.3130A>C (p.Asn1044His)
c.3190A>C (p.Asn1064His)
c.3136A>C (p.Asn1046His)
c.3061A>C (p.Asn1021His)
c.2656A>C (p.Asn886His)
c.2014A>C (p.Asn672His)
n.3439A>C
n.82+2062T>G
10g.71706944A>GCA377141042CDH23c.3001A>G (p.Asn1001Asp)
c.2432A>G
c.3016A>G (p.Asn1006Asp)
c.1776A>G
c.3196A>G (p.Asn1066Asp)
c.3130A>G (p.Asn1044Asp)
c.3190A>G (p.Asn1064Asp)
c.3136A>G (p.Asn1046Asp)
c.3061A>G (p.Asn1021Asp)
c.2656A>G (p.Asn886Asp)
c.2014A>G (p.Asn672Asp)
n.3439A>G
n.82+2062T>C
10g.71706944A>TCA377141037CDH23c.3001A>T (p.Asn1001Tyr)
c.2432A>T
c.3016A>T (p.Asn1006Tyr)
c.1776A>T
c.3196A>T (p.Asn1066Tyr)
c.3130A>T (p.Asn1044Tyr)
c.3190A>T (p.Asn1064Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3061A>T (p.Asn1021Tyr)
c.2656A>T (p.Asn886Tyr)
c.2014A>T (p.Asn672Tyr)
n.3439A>T
n.82+2062T>A
10g.71706945A=CA1918838045CDH23c.3002A= (p.Asn1001=)
c.2433A=
c.3017A= (p.Asn1006=)
c.1777A=
c.3197A= (p.Asn1066=)
c.3131A= (p.Asn1044=)
c.3191A= (p.Asn1064=)
c.3137A= (p.Asn1046=)
c.3062A= (p.Asn1021=)
c.2657A= (p.Asn886=)
c.2015A= (p.Asn672=)
n.3440A=
n.82+2061T=
10g.71706945A>CCA377141053CDH23c.3002A>C (p.Asn1001Thr)
c.2433A>C
c.3017A>C (p.Asn1006Thr)
c.1777A>C
c.3197A>C (p.Asn1066Thr)
c.3131A>C (p.Asn1044Thr)
c.3191A>C (p.Asn1064Thr)
c.3137A>C (p.Asn1046Thr)
c.3062A>C (p.Asn1021Thr)
c.2657A>C (p.Asn886Thr)
c.2015A>C (p.Asn672Thr)
n.3440A>C
n.82+2061T>G
10g.71706945A>GCA5544420CDH23c.3002A>G (p.Asn1001Ser)
c.2433A>G
c.3017A>G (p.Asn1006Ser)
c.1777A>G
c.3197A>G (p.Asn1066Ser)
c.3131A>G (p.Asn1044Ser)
c.3191A>G (p.Asn1064Ser)
c.3137A>G (p.Asn1046Ser)
c.3062A>G (p.Asn1021Ser)
c.2657A>G (p.Asn886Ser)
c.2015A>G (p.Asn672Ser)
n.3440A>G
n.82+2061T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706945A>TCA377141071CDH23c.3002A>T (p.Asn1001Ile)
c.2433A>T
c.3017A>T (p.Asn1006Ile)
c.1777A>T
c.3197A>T (p.Asn1066Ile)
c.3131A>T (p.Asn1044Ile)
c.3191A>T (p.Asn1064Ile)
c.3137A>T (p.Asn1046Ile)
c.3062A>T (p.Asn1021Ile)
c.2657A>T (p.Asn886Ile)
c.2015A>T (p.Asn672Ile)
n.3440A>T
n.82+2061T>A
10g.71706946T>ACA377141075CDH23c.3003T>A (p.Asn1001Lys)
c.2434T>A
c.3018T>A (p.Asn1006Lys)
c.1778T>A
c.3198T>A (p.Asn1066Lys)
c.3132T>A (p.Asn1044Lys)
c.3192T>A (p.Asn1064Lys)
c.3138T>A (p.Asn1046Lys)
c.3063T>A (p.Asn1021Lys)
c.2658T>A (p.Asn886Lys)
c.2016T>A (p.Asn672Lys)
n.3441T>A
n.82+2060A>T
 gnomAD v4
10g.71706946T>CCA470061891CDH23c.3003T>C (p.Asn1001=)
c.2434T>C
c.3018T>C (p.Asn1006=)
c.1778T>C
c.3198T>C (p.Asn1066=)
c.3132T>C (p.Asn1044=)
c.3192T>C (p.Asn1064=)
c.3138T>C (p.Asn1046=)
c.3063T>C (p.Asn1021=)
c.2658T>C (p.Asn886=)
c.2016T>C (p.Asn672=)
n.3441T>C
n.82+2060A>G
 ClinVar dbSNP gnomAD v4
10g.71706946T>GCA377141078CDH23c.3003T>G (p.Asn1001Lys)
c.2434T>G
c.3018T>G (p.Asn1006Lys)
c.1778T>G
c.3198T>G (p.Asn1066Lys)
c.3132T>G (p.Asn1044Lys)
c.3192T>G (p.Asn1064Lys)
c.3138T>G (p.Asn1046Lys)
c.3063T>G (p.Asn1021Lys)
c.2658T>G (p.Asn886Lys)
c.2016T>G (p.Asn672Lys)
n.3441T>G
n.82+2060A>C
10g.71706946T=CA1918838049CDH23c.3003T= (p.Asn1001=)
c.2434T=
c.3018T= (p.Asn1006=)
c.1778T=
c.3198T= (p.Asn1066=)
c.3132T= (p.Asn1044=)
c.3192T= (p.Asn1064=)
c.3138T= (p.Asn1046=)
c.3063T= (p.Asn1021=)
c.2658T= (p.Asn886=)
c.2016T= (p.Asn672=)
n.3441T=
n.82+2060A=
10g.71706947G>ACA377141079CDH23c.3004G>A (p.Val1002Met)
c.2435G>A
c.3019G>A (p.Val1007Met)
c.1779G>A
c.3199G>A (p.Val1067Met)
c.3133G>A (p.Val1045Met)
c.3193G>A (p.Val1065Met)
c.3139G>A (p.Val1047Met)
c.3064G>A (p.Val1022Met)
c.2659G>A (p.Val887Met)
c.2017G>A (p.Val673Met)
n.3442G>A
n.82+2059C>T
 gnomAD v4
10g.71706947G>CCA377141080CDH23c.3004G>C (p.Val1002Leu)
c.2435G>C
c.3019G>C (p.Val1007Leu)
c.1779G>C
c.3199G>C (p.Val1067Leu)
c.3133G>C (p.Val1045Leu)
c.3193G>C (p.Val1065Leu)
c.3139G>C (p.Val1047Leu)
c.3064G>C (p.Val1022Leu)
c.2659G>C (p.Val887Leu)
c.2017G>C (p.Val673Leu)
n.3442G>C
n.82+2059C>G
10g.71706947G>TCA377141081CDH23c.3004G>T (p.Val1002Leu)
c.2435G>T
c.3019G>T (p.Val1007Leu)
c.1779G>T
c.3199G>T (p.Val1067Leu)
c.3133G>T (p.Val1045Leu)
c.3193G>T (p.Val1065Leu)
c.3139G>T (p.Val1047Leu)
c.3064G>T (p.Val1022Leu)
c.2659G>T (p.Val887Leu)
c.2017G>T (p.Val673Leu)
n.3442G>T
n.82+2059C>A
10g.71706948delCA2574575081CDH23c.3005del (p.Val1002GlyfsTer16)
c.2436del
c.3020del (p.Val1007GlyfsTer16)
c.1780del
c.3200del (p.Val1067GlyfsTer16)
c.3134del (p.Val1045GlyfsTer16)
c.3194del (p.Val1065GlyfsTer16)
c.3140del (p.Val1047GlyfsTer16)
c.3065del (p.Val1022GlyfsTer16)
c.2660del (p.Val887GlyfsTer16)
c.2018del (p.Val673GlyfsTer16)
n.3443del
n.82+2058del
10g.71706948T>ACA377141083CDH23c.3005T>A (p.Val1002Glu)
c.2436T>A
c.3020T>A (p.Val1007Glu)
c.1780T>A
c.3200T>A (p.Val1067Glu)
c.3134T>A (p.Val1045Glu)
c.3194T>A (p.Val1065Glu)
c.3140T>A (p.Val1047Glu)
c.3065T>A (p.Val1022Glu)
c.2660T>A (p.Val887Glu)
c.2018T>A (p.Val673Glu)
n.3443T>A
n.82+2058A>T
10g.71706948T>CCA377141086CDH23c.3005T>C (p.Val1002Ala)
c.2436T>C
c.3020T>C (p.Val1007Ala)
c.1780T>C
c.3200T>C (p.Val1067Ala)
c.3134T>C (p.Val1045Ala)
c.3194T>C (p.Val1065Ala)
c.3140T>C (p.Val1047Ala)
c.3065T>C (p.Val1022Ala)
c.2660T>C (p.Val887Ala)
c.2018T>C (p.Val673Ala)
n.3443T>C
n.82+2058A>G
 dbSNP
10g.71706948T>GCA377141087CDH23c.3005T>G (p.Val1002Gly)
c.2436T>G
c.3020T>G (p.Val1007Gly)
c.1780T>G
c.3200T>G (p.Val1067Gly)
c.3134T>G (p.Val1045Gly)
c.3194T>G (p.Val1065Gly)
c.3140T>G (p.Val1047Gly)
c.3065T>G (p.Val1022Gly)
c.2660T>G (p.Val887Gly)
c.2018T>G (p.Val673Gly)
n.3443T>G
n.82+2058A>C
10g.71706948T=CA1918838054CDH23c.3005T= (p.Val1002=)
c.2436T=
c.3020T= (p.Val1007=)
c.1780T=
c.3200T= (p.Val1067=)
c.3134T= (p.Val1045=)
c.3194T= (p.Val1065=)
c.3140T= (p.Val1047=)
c.3065T= (p.Val1022=)
c.2660T= (p.Val887=)
c.2018T= (p.Val673=)
n.3443T=
n.82+2058A=
10g.71706948_71706949insACA5544421CDH23c.3005_3006insA (p.Ser1003ValfsTer?)
c.2436_2437insA
c.3020_3021insA (p.Ser1008ValfsTer?)
c.1780_1781insA
c.3200_3201insA (p.Ser1068ValfsTer?)
c.3134_3135insA (p.Ser1046ValfsTer?)
c.3194_3195insA (p.Ser1066ValfsTer?)
c.3140_3141insA (p.Ser1048ValfsTer?)
c.3065_3066insA (p.Ser1023ValfsTer?)
c.2660_2661insA (p.Ser888ValfsTer?)
c.2018_2019insA (p.Ser674ValfsTer?)
n.3443_3444insA
n.82+2057_82+2058insT
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71706949G>ACA470061894CDH23c.3006G>A (p.Val1002=)
c.2437G>A
c.3021G>A (p.Val1007=)
c.1781G>A
c.3201G>A (p.Val1067=)
c.3135G>A (p.Val1045=)
c.3195G>A (p.Val1065=)
c.3141G>A (p.Val1047=)
c.3066G>A (p.Val1022=)
c.2661G>A (p.Val887=)
c.2019G>A (p.Val673=)
n.3444G>A
n.82+2057C>T
 gnomAD v4
10g.71706949G>CCA470061895CDH23c.3006G>C (p.Val1002=)
c.2437G>C
c.3021G>C (p.Val1007=)
c.1781G>C
c.3201G>C (p.Val1067=)
c.3135G>C (p.Val1045=)
c.3195G>C (p.Val1065=)
c.3141G>C (p.Val1047=)
c.3066G>C (p.Val1022=)
c.2661G>C (p.Val887=)
c.2019G>C (p.Val673=)
n.3444G>C
n.82+2057C>G
 ClinVar
10g.71706949G>TCA470061893CDH23c.3006G>T (p.Val1002=)
c.2437G>T
c.3021G>T (p.Val1007=)
c.1781G>T
c.3201G>T (p.Val1067=)
c.3135G>T (p.Val1045=)
c.3195G>T (p.Val1065=)
c.3141G>T (p.Val1047=)
c.3066G>T (p.Val1022=)
c.2661G>T (p.Val887=)
c.2019G>T (p.Val673=)
n.3444G>T
n.82+2057C>A
10g.71706950T>ACA377141091CDH23c.3007T>A (p.Ser1003Thr)
c.2438T>A
c.3022T>A (p.Ser1008Thr)
c.1782T>A
c.3202T>A (p.Ser1068Thr)
c.3136T>A (p.Ser1046Thr)
c.3196T>A (p.Ser1066Thr)
c.3142T>A (p.Ser1048Thr)
c.3067T>A (p.Ser1023Thr)
c.2662T>A (p.Ser888Thr)
c.2020T>A (p.Ser674Thr)
n.3445T>A
n.82+2056A>T
10g.71706950T>CCA377141090CDH23c.3007T>C (p.Ser1003Pro)
c.2438T>C
c.3022T>C (p.Ser1008Pro)
c.1782T>C
c.3202T>C (p.Ser1068Pro)
c.3136T>C (p.Ser1046Pro)
c.3196T>C (p.Ser1066Pro)
c.3142T>C (p.Ser1048Pro)
c.3067T>C (p.Ser1023Pro)
c.2662T>C (p.Ser888Pro)
c.2020T>C (p.Ser674Pro)
n.3445T>C
n.82+2056A>G
 gnomAD v4
10g.71706950T>GCA377141089CDH23c.3007T>G (p.Ser1003Ala)
c.2438T>G
c.3022T>G (p.Ser1008Ala)
c.1782T>G
c.3202T>G (p.Ser1068Ala)
c.3136T>G (p.Ser1046Ala)
c.3196T>G (p.Ser1066Ala)
c.3142T>G (p.Ser1048Ala)
c.3067T>G (p.Ser1023Ala)
c.2662T>G (p.Ser888Ala)
c.2020T>G (p.Ser674Ala)
n.3445T>G
n.82+2056A>C
10g.71706951C>ACA377141092CDH23c.3008C>A (p.Ser1003Tyr)
c.2439C>A
c.3023C>A (p.Ser1008Tyr)
c.1783C>A
c.3203C>A (p.Ser1068Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3197C>A (p.Ser1066Tyr)
c.3143C>A (p.Ser1048Tyr)
c.3068C>A (p.Ser1023Tyr)
c.2663C>A (p.Ser888Tyr)
c.2021C>A (p.Ser674Tyr)
n.3446C>A
n.82+2055G>T
10g.71706951C>GCA377141094CDH23c.3008C>G (p.Ser1003Cys)
c.2439C>G
c.3023C>G (p.Ser1008Cys)
c.1783C>G
c.3203C>G (p.Ser1068Cys)
c.3137C>G (p.Ser1046Cys)
c.3197C>G (p.Ser1066Cys)
c.3143C>G (p.Ser1048Cys)
c.3068C>G (p.Ser1023Cys)
c.2663C>G (p.Ser888Cys)
c.2021C>G (p.Ser674Cys)
n.3446C>G
n.82+2055G>C
10g.71706951C>TCA377141093CDH23c.3008C>T (p.Ser1003Phe)
c.2439C>T
c.3023C>T (p.Ser1008Phe)
c.1783C>T
c.3203C>T (p.Ser1068Phe)
c.3137C>T (p.Ser1046Phe)
c.3197C>T (p.Ser1066Phe)
c.3143C>T (p.Ser1048Phe)
c.3068C>T (p.Ser1023Phe)
c.2663C>T (p.Ser888Phe)
c.2021C>T (p.Ser674Phe)
n.3446C>T
n.82+2055G>A
10g.71706952T>ACA470061897CDH23c.3009T>A (p.Ser1003=)
c.2440T>A
c.3024T>A (p.Ser1008=)
c.1784T>A
c.3204T>A (p.Ser1068=)
c.3138T>A (p.Ser1046=)
c.3198T>A (p.Ser1066=)
c.3144T>A (p.Ser1048=)
c.3069T>A (p.Ser1023=)
c.2664T>A (p.Ser888=)
c.2022T>A (p.Ser674=)
n.3447T>A
n.82+2054A>T
 gnomAD v4
10g.71706952T>CCA133598CDH23c.3009T>C (p.Ser1003=)
c.2440T>C
c.3024T>C (p.Ser1008=)
c.1784T>C
c.3204T>C (p.Ser1068=)
c.3138T>C (p.Ser1046=)
c.3198T>C (p.Ser1066=)
c.3144T>C (p.Ser1048=)
c.3069T>C (p.Ser1023=)
c.2664T>C (p.Ser888=)
c.2022T>C (p.Ser674=)
n.3447T>C
n.82+2054A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706952T>GCA470061898CDH23c.3009T>G (p.Ser1003=)
c.2440T>G
c.3024T>G (p.Ser1008=)
c.1784T>G
c.3204T>G (p.Ser1068=)
c.3138T>G (p.Ser1046=)
c.3198T>G (p.Ser1066=)
c.3144T>G (p.Ser1048=)
c.3069T>G (p.Ser1023=)
c.2664T>G (p.Ser888=)
c.2022T>G (p.Ser674=)
n.3447T>G
n.82+2054A>C
 ClinVar dbSNP gnomAD v4
10g.71706952T=CA1918838068CDH23c.3009T= (p.Ser1003=)
c.2440T=
c.3024T= (p.Ser1008=)
c.1784T=
c.3204T= (p.Ser1068=)
c.3138T= (p.Ser1046=)
c.3198T= (p.Ser1066=)
c.3144T= (p.Ser1048=)
c.3069T= (p.Ser1023=)
c.2664T= (p.Ser888=)
c.2022T= (p.Ser674=)
n.3447T=
n.82+2054A=
10g.71706952_71706953delinsCACA915945967CDH23c.3009_3010delinsCA (p.Val1004Met)
c.2440_2441delinsCA
c.3024_3025delinsCA (p.Val1009Met)
c.1784_1785delinsCA
c.3204_3205delinsCA (p.Val1069Met)
c.3138_3139delinsCA (p.Val1047Met)
c.3198_3199delinsCA (p.Val1067Met)
c.3144_3145delinsCA (p.Val1049Met)
c.3069_3070delinsCA (p.Val1024Met)
c.2664_2665delinsCA (p.Val889Met)
c.2022_2023delinsCA (p.Val675Met)
n.3447_3448delinsCA
n.82+2053_82+2054delinsTG
 ClinVar
10g.71706953G>ACA242711CDH23c.3010G>A (p.Val1004Met)
c.2441G>A
c.3025G>A (p.Val1009Met)
c.1785G>A
c.3205G>A (p.Val1069Met)
c.3139G>A (p.Val1047Met)
c.3199G>A (p.Val1067Met)
c.3145G>A (p.Val1049Met)
c.3070G>A (p.Val1024Met)
c.2665G>A (p.Val889Met)
c.2023G>A (p.Val675Met)
n.3448G>A
n.82+2053C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71706953G>CCA377141095CDH23c.3010G>C (p.Val1004Leu)
c.2441G>C
c.3025G>C (p.Val1009Leu)
c.1785G>C
c.3205G>C (p.Val1069Leu)
c.3139G>C (p.Val1047Leu)
c.3199G>C (p.Val1067Leu)
c.3145G>C (p.Val1049Leu)
c.3070G>C (p.Val1024Leu)
c.2665G>C (p.Val889Leu)
c.2023G>C (p.Val675Leu)
n.3448G>C
n.82+2053C>G
 gnomAD v4
10g.71706953G=CA1918838074CDH23c.3010G= (p.Val1004=)
c.2441G=
c.3025G= (p.Val1009=)
c.1785G=
c.3205G= (p.Val1069=)
c.3139G= (p.Val1047=)
c.3199G= (p.Val1067=)
c.3145G= (p.Val1049=)
c.3070G= (p.Val1024=)
c.2665G= (p.Val889=)
c.2023G= (p.Val675=)
n.3448G=
n.82+2053C=
10g.71706953G>TCA377141096CDH23c.3010G>T (p.Val1004Leu)
c.2441G>T
c.3025G>T (p.Val1009Leu)
c.1785G>T
c.3205G>T (p.Val1069Leu)
c.3139G>T (p.Val1047Leu)
c.3199G>T (p.Val1067Leu)
c.3145G>T (p.Val1049Leu)
c.3070G>T (p.Val1024Leu)
c.2665G>T (p.Val889Leu)
c.2023G>T (p.Val675Leu)
n.3448G>T
n.82+2053C>A
10g.71706954T>ACA377141097CDH23c.3011T>A (p.Val1004Glu)
c.2442T>A
c.3026T>A (p.Val1009Glu)
c.1786T>A
c.3206T>A (p.Val1069Glu)
c.3140T>A (p.Val1047Glu)
c.3200T>A (p.Val1067Glu)
c.3146T>A (p.Val1049Glu)
c.3071T>A (p.Val1024Glu)
c.2666T>A (p.Val889Glu)
c.2024T>A (p.Val675Glu)
n.3449T>A
n.82+2052A>T
10g.71706954T>CCA377141098CDH23c.3011T>C (p.Val1004Ala)
c.2442T>C
c.3026T>C (p.Val1009Ala)
c.1786T>C
c.3206T>C (p.Val1069Ala)
c.3140T>C (p.Val1047Ala)
c.3200T>C (p.Val1067Ala)
c.3146T>C (p.Val1049Ala)
c.3071T>C (p.Val1024Ala)
c.2666T>C (p.Val889Ala)
c.2024T>C (p.Val675Ala)
n.3449T>C
n.82+2052A>G
10g.71706954T>GCA377141099CDH23c.3011T>G (p.Val1004Gly)
c.2442T>G
c.3026T>G (p.Val1009Gly)
c.1786T>G
c.3206T>G (p.Val1069Gly)
c.3140T>G (p.Val1047Gly)
c.3200T>G (p.Val1067Gly)
c.3146T>G (p.Val1049Gly)
c.3071T>G (p.Val1024Gly)
c.2666T>G (p.Val889Gly)
c.2024T>G (p.Val675Gly)
n.3449T>G
n.82+2052A>C
10g.71706955G>ACA470061902CDH23c.3012G>A (p.Val1004=)
c.2443G>A
c.3027G>A (p.Val1009=)
c.1787G>A
c.3207G>A (p.Val1069=)
c.3141G>A (p.Val1047=)
c.3201G>A (p.Val1067=)
c.3147G>A (p.Val1049=)
c.3072G>A (p.Val1024=)
c.2667G>A (p.Val889=)
c.2025G>A (p.Val675=)
n.3450G>A
n.82+2051C>T
 gnomAD v4
10g.71706955G>CCA470061903CDH23c.3012G>C (p.Val1004=)
c.2443G>C
c.3027G>C (p.Val1009=)
c.1787G>C
c.3207G>C (p.Val1069=)
c.3141G>C (p.Val1047=)
c.3201G>C (p.Val1067=)
c.3147G>C (p.Val1049=)
c.3072G>C (p.Val1024=)
c.2667G>C (p.Val889=)
c.2025G>C (p.Val675=)
n.3450G>C
n.82+2051C>G
10g.71706955G=CA1918838081CDH23c.3012G= (p.Val1004=)
c.2443G=
c.3027G= (p.Val1009=)
c.1787G=
c.3207G= (p.Val1069=)
c.3141G= (p.Val1047=)
c.3201G= (p.Val1067=)
c.3147G= (p.Val1049=)
c.3072G= (p.Val1024=)
c.2667G= (p.Val889=)
c.2025G= (p.Val675=)
n.3450G=
n.82+2051C=
10g.71706955G>TCA470061905CDH23c.3012G>T (p.Val1004=)
c.2443G>T
c.3027G>T (p.Val1009=)
c.1787G>T
c.3207G>T (p.Val1069=)
c.3141G>T (p.Val1047=)
c.3201G>T (p.Val1067=)
c.3147G>T (p.Val1049=)
c.3072G>T (p.Val1024=)
c.2667G>T (p.Val889=)
c.2025G>T (p.Val675=)
n.3450G>T
n.82+2051C>A
 dbSNP gnomAD v3 gnomAD v4
10g.71706956T>ACA377141100CDH23c.3013T>A (p.Ser1005Thr)
c.2444T>A
c.3028T>A (p.Ser1010Thr)
c.1788T>A
c.3208T>A (p.Ser1070Thr)
c.3142T>A (p.Ser1048Thr)
c.3202T>A (p.Ser1068Thr)
c.3148T>A (p.Ser1050Thr)
c.3073T>A (p.Ser1025Thr)
c.2668T>A (p.Ser890Thr)
c.2026T>A (p.Ser676Thr)
n.3451T>A
n.82+2050A>T
10g.71706956T>CCA377141101CDH23c.3013T>C (p.Ser1005Pro)
c.2444T>C
c.3028T>C (p.Ser1010Pro)
c.1788T>C
c.3208T>C (p.Ser1070Pro)
c.3142T>C (p.Ser1048Pro)
c.3202T>C (p.Ser1068Pro)
c.3148T>C (p.Ser1050Pro)
c.3073T>C (p.Ser1025Pro)
c.2668T>C (p.Ser890Pro)
c.2026T>C (p.Ser676Pro)
n.3451T>C
n.82+2050A>G
10g.71706956T>GCA377141102CDH23c.3013T>G (p.Ser1005Ala)
c.2444T>G
c.3028T>G (p.Ser1010Ala)
c.1788T>G
c.3208T>G (p.Ser1070Ala)
c.3142T>G (p.Ser1048Ala)
c.3202T>G (p.Ser1068Ala)
c.3148T>G (p.Ser1050Ala)
c.3073T>G (p.Ser1025Ala)
c.2668T>G (p.Ser890Ala)
c.2026T>G (p.Ser676Ala)
n.3451T>G
n.82+2050A>C

Number of alleles fetched