Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71809710_71809778delCA2788481193CDH23c.8723-110_8723-42del (n.8723-110_8723-42del)
c.2656-110_2656-42del (n.2656-110_2656-42del)
c.2320-110_2320-42del (n.2320-110_2320-42del)
c.8738-110_8738-42del (n.8738-110_8738-42del)
c.2003-110_2003-42del (n.2003-110_2003-42del)
n.2259-110_2259-42del
c.8918-110_8918-42del (n.8918-110_8918-42del)
c.8852-110_8852-42del (n.8852-110_8852-42del)
c.8915-110_8915-42del (n.8915-110_8915-42del)
c.8912-110_8912-42del (n.8912-110_8912-42del)
c.8858-110_8858-42del (n.8858-110_8858-42del)
c.8828-110_8828-42del (n.8828-110_8828-42del)
c.8783-110_8783-42del (n.8783-110_8783-42del)
c.8378-110_8378-42del (n.8378-110_8378-42del)
c.7736-110_7736-42del (n.7736-110_7736-42del)
c.5246-110_5246-42del (n.5246-110_5246-42del)
10g.71809766_71809781dupCA2609588257CDH23c.8723-54_8723-39dup (n.8723-54_8723-39dup)
c.2656-54_2656-39dup (n.2656-54_2656-39dup)
c.2320-54_2320-39dup (n.2320-54_2320-39dup)
c.8738-54_8738-39dup (n.8738-54_8738-39dup)
c.2003-54_2003-39dup (n.2003-54_2003-39dup)
n.2259-54_2259-39dup
c.8918-54_8918-39dup (n.8918-54_8918-39dup)
c.8852-54_8852-39dup (n.8852-54_8852-39dup)
c.8915-54_8915-39dup (n.8915-54_8915-39dup)
c.8912-54_8912-39dup (n.8912-54_8912-39dup)
c.8858-54_8858-39dup (n.8858-54_8858-39dup)
c.8828-54_8828-39dup (n.8828-54_8828-39dup)
c.8783-54_8783-39dup (n.8783-54_8783-39dup)
c.8378-54_8378-39dup (n.8378-54_8378-39dup)
c.7736-54_7736-39dup (n.7736-54_7736-39dup)
c.5246-54_5246-39dup (n.5246-54_5246-39dup)
 gnomAD v4
10g.71809773G>ACA5546726CDH23c.8723-47G>A (n.8723-47G>A)
c.2656-47G>A (n.2656-47G>A)
c.2320-47G>A (n.2320-47G>A)
c.8738-47G>A (n.8738-47G>A)
c.2003-47G>A (n.2003-47G>A)
n.2259-47G>A
c.8918-47G>A (n.8918-47G>A)
c.8852-47G>A (n.8852-47G>A)
c.8915-47G>A (n.8915-47G>A)
c.8912-47G>A (n.8912-47G>A)
c.8858-47G>A (n.8858-47G>A)
c.8828-47G>A (n.8828-47G>A)
c.8783-47G>A (n.8783-47G>A)
c.8378-47G>A (n.8378-47G>A)
c.7736-47G>A (n.7736-47G>A)
c.5246-47G>A (n.5246-47G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809773G=CA1918888926CDH23c.8723-47G= (n.8723-47G=)
c.2656-47G= (n.2656-47G=)
c.2320-47G= (n.2320-47G=)
c.8738-47G= (n.8738-47G=)
c.2003-47G= (n.2003-47G=)
n.2259-47G=
c.8918-47G= (n.8918-47G=)
c.8852-47G= (n.8852-47G=)
c.8915-47G= (n.8915-47G=)
c.8912-47G= (n.8912-47G=)
c.8858-47G= (n.8858-47G=)
c.8828-47G= (n.8828-47G=)
c.8783-47G= (n.8783-47G=)
c.8378-47G= (n.8378-47G=)
c.7736-47G= (n.7736-47G=)
c.5246-47G= (n.5246-47G=)
10g.71809773G>TCA2609588282CDH23c.8723-47G>T (n.8723-47G>T)
c.2656-47G>T (n.2656-47G>T)
c.2320-47G>T (n.2320-47G>T)
c.8738-47G>T (n.8738-47G>T)
c.2003-47G>T (n.2003-47G>T)
n.2259-47G>T
c.8918-47G>T (n.8918-47G>T)
c.8852-47G>T (n.8852-47G>T)
c.8915-47G>T (n.8915-47G>T)
c.8912-47G>T (n.8912-47G>T)
c.8858-47G>T (n.8858-47G>T)
c.8828-47G>T (n.8828-47G>T)
c.8783-47G>T (n.8783-47G>T)
c.8378-47G>T (n.8378-47G>T)
c.7736-47G>T (n.7736-47G>T)
c.5246-47G>T (n.5246-47G>T)
 gnomAD v4
10g.71809776delCA2609588279CDH23c.8723-44del (n.8723-44del)
c.2656-44del (n.2656-44del)
c.2320-44del (n.2320-44del)
c.8738-44del (n.8738-44del)
c.2003-44del (n.2003-44del)
n.2259-44del
c.8918-44del (n.8918-44del)
c.8852-44del (n.8852-44del)
c.8915-44del (n.8915-44del)
c.8912-44del (n.8912-44del)
c.8858-44del (n.8858-44del)
c.8828-44del (n.8828-44del)
c.8783-44del (n.8783-44del)
c.8378-44del (n.8378-44del)
c.7736-44del (n.7736-44del)
c.5246-44del (n.5246-44del)
 gnomAD v4
10g.71809774G>ACA2609588285CDH23c.8723-46G>A (n.8723-46G>A)
c.2656-46G>A (n.2656-46G>A)
c.2320-46G>A (n.2320-46G>A)
c.8738-46G>A (n.8738-46G>A)
c.2003-46G>A (n.2003-46G>A)
n.2259-46G>A
c.8918-46G>A (n.8918-46G>A)
c.8852-46G>A (n.8852-46G>A)
c.8915-46G>A (n.8915-46G>A)
c.8912-46G>A (n.8912-46G>A)
c.8858-46G>A (n.8858-46G>A)
c.8828-46G>A (n.8828-46G>A)
c.8783-46G>A (n.8783-46G>A)
c.8378-46G>A (n.8378-46G>A)
c.7736-46G>A (n.7736-46G>A)
c.5246-46G>A (n.5246-46G>A)
 gnomAD v4
10g.71809774G>TCA2574575736CDH23c.8723-46G>T (n.8723-46G>T)
c.2656-46G>T (n.2656-46G>T)
c.2320-46G>T (n.2320-46G>T)
c.8738-46G>T (n.8738-46G>T)
c.2003-46G>T (n.2003-46G>T)
n.2259-46G>T
c.8918-46G>T (n.8918-46G>T)
c.8852-46G>T (n.8852-46G>T)
c.8915-46G>T (n.8915-46G>T)
c.8912-46G>T (n.8912-46G>T)
c.8858-46G>T (n.8858-46G>T)
c.8828-46G>T (n.8828-46G>T)
c.8783-46G>T (n.8783-46G>T)
c.8378-46G>T (n.8378-46G>T)
c.7736-46G>T (n.7736-46G>T)
c.5246-46G>T (n.5246-46G>T)
 gnomAD v4
10g.71809775G>ACA2609588286CDH23c.8723-45G>A (n.8723-45G>A)
c.2656-45G>A (n.2656-45G>A)
c.2320-45G>A (n.2320-45G>A)
c.8738-45G>A (n.8738-45G>A)
c.2003-45G>A (n.2003-45G>A)
n.2259-45G>A
c.8918-45G>A (n.8918-45G>A)
c.8852-45G>A (n.8852-45G>A)
c.8915-45G>A (n.8915-45G>A)
c.8912-45G>A (n.8912-45G>A)
c.8858-45G>A (n.8858-45G>A)
c.8828-45G>A (n.8828-45G>A)
c.8783-45G>A (n.8783-45G>A)
c.8378-45G>A (n.8378-45G>A)
c.7736-45G>A (n.7736-45G>A)
c.5246-45G>A (n.5246-45G>A)
 gnomAD v4
10g.71809775G>TCA2609588287CDH23c.8723-45G>T (n.8723-45G>T)
c.2656-45G>T (n.2656-45G>T)
c.2320-45G>T (n.2320-45G>T)
c.8738-45G>T (n.8738-45G>T)
c.2003-45G>T (n.2003-45G>T)
n.2259-45G>T
c.8918-45G>T (n.8918-45G>T)
c.8852-45G>T (n.8852-45G>T)
c.8915-45G>T (n.8915-45G>T)
c.8912-45G>T (n.8912-45G>T)
c.8858-45G>T (n.8858-45G>T)
c.8828-45G>T (n.8828-45G>T)
c.8783-45G>T (n.8783-45G>T)
c.8378-45G>T (n.8378-45G>T)
c.7736-45G>T (n.7736-45G>T)
c.5246-45G>T (n.5246-45G>T)
 gnomAD v4
10g.71809776G>ACA2609588289CDH23c.8723-44G>A (n.8723-44G>A)
c.2656-44G>A (n.2656-44G>A)
c.2320-44G>A (n.2320-44G>A)
c.8738-44G>A (n.8738-44G>A)
c.2003-44G>A (n.2003-44G>A)
n.2259-44G>A
c.8918-44G>A (n.8918-44G>A)
c.8852-44G>A (n.8852-44G>A)
c.8915-44G>A (n.8915-44G>A)
c.8912-44G>A (n.8912-44G>A)
c.8858-44G>A (n.8858-44G>A)
c.8828-44G>A (n.8828-44G>A)
c.8783-44G>A (n.8783-44G>A)
c.8378-44G>A (n.8378-44G>A)
c.7736-44G>A (n.7736-44G>A)
c.5246-44G>A (n.5246-44G>A)
 gnomAD v4
10g.71809776G=CA1918888928CDH23c.8723-44G= (n.8723-44G=)
c.2656-44G= (n.2656-44G=)
c.2320-44G= (n.2320-44G=)
c.8738-44G= (n.8738-44G=)
c.2003-44G= (n.2003-44G=)
n.2259-44G=
c.8918-44G= (n.8918-44G=)
c.8852-44G= (n.8852-44G=)
c.8915-44G= (n.8915-44G=)
c.8912-44G= (n.8912-44G=)
c.8858-44G= (n.8858-44G=)
c.8828-44G= (n.8828-44G=)
c.8783-44G= (n.8783-44G=)
c.8378-44G= (n.8378-44G=)
c.7736-44G= (n.7736-44G=)
c.5246-44G= (n.5246-44G=)
10g.71809776G>TCA209438936CDH23c.8723-44G>T (n.8723-44G>T)
c.2656-44G>T (n.2656-44G>T)
c.2320-44G>T (n.2320-44G>T)
c.8738-44G>T (n.8738-44G>T)
c.2003-44G>T (n.2003-44G>T)
n.2259-44G>T
c.8918-44G>T (n.8918-44G>T)
c.8852-44G>T (n.8852-44G>T)
c.8915-44G>T (n.8915-44G>T)
c.8912-44G>T (n.8912-44G>T)
c.8858-44G>T (n.8858-44G>T)
c.8828-44G>T (n.8828-44G>T)
c.8783-44G>T (n.8783-44G>T)
c.8378-44G>T (n.8378-44G>T)
c.7736-44G>T (n.7736-44G>T)
c.5246-44G>T (n.5246-44G>T)
 dbSNP gnomAD v4
10g.71809777_71809779dupCA1918888930CDH23c.8723-43_8723-41dup (n.8723-43_8723-41dup)
c.2656-43_2656-41dup (n.2656-43_2656-41dup)
c.2320-43_2320-41dup (n.2320-43_2320-41dup)
c.8738-43_8738-41dup (n.8738-43_8738-41dup)
c.2003-43_2003-41dup (n.2003-43_2003-41dup)
n.2259-43_2259-41dup
c.8918-43_8918-41dup (n.8918-43_8918-41dup)
c.8852-43_8852-41dup (n.8852-43_8852-41dup)
c.8915-43_8915-41dup (n.8915-43_8915-41dup)
c.8912-43_8912-41dup (n.8912-43_8912-41dup)
c.8858-43_8858-41dup (n.8858-43_8858-41dup)
c.8828-43_8828-41dup (n.8828-43_8828-41dup)
c.8783-43_8783-41dup (n.8783-43_8783-41dup)
c.8378-43_8378-41dup (n.8378-43_8378-41dup)
c.7736-43_7736-41dup (n.7736-43_7736-41dup)
c.5246-43_5246-41dup (n.5246-43_5246-41dup)
 dbSNP
10g.71809778A=CA1918888932CDH23c.8723-42A= (n.8723-42A=)
c.2656-42A= (n.2656-42A=)
c.2320-42A= (n.2320-42A=)
c.8738-42A= (n.8738-42A=)
c.2003-42A= (n.2003-42A=)
n.2259-42A=
c.8918-42A= (n.8918-42A=)
c.8852-42A= (n.8852-42A=)
c.8915-42A= (n.8915-42A=)
c.8912-42A= (n.8912-42A=)
c.8858-42A= (n.8858-42A=)
c.8828-42A= (n.8828-42A=)
c.8783-42A= (n.8783-42A=)
c.8378-42A= (n.8378-42A=)
c.7736-42A= (n.7736-42A=)
c.5246-42A= (n.5246-42A=)
10g.71809778A>CCA1918888933CDH23c.8723-42A>C (n.8723-42A>C)
c.2656-42A>C (n.2656-42A>C)
c.2320-42A>C (n.2320-42A>C)
c.8738-42A>C (n.8738-42A>C)
c.2003-42A>C (n.2003-42A>C)
n.2259-42A>C
c.8918-42A>C (n.8918-42A>C)
c.8852-42A>C (n.8852-42A>C)
c.8915-42A>C (n.8915-42A>C)
c.8912-42A>C (n.8912-42A>C)
c.8858-42A>C (n.8858-42A>C)
c.8828-42A>C (n.8828-42A>C)
c.8783-42A>C (n.8783-42A>C)
c.8378-42A>C (n.8378-42A>C)
c.7736-42A>C (n.7736-42A>C)
c.5246-42A>C (n.5246-42A>C)
 dbSNP
10g.71809778_71809780delinsACTCA1918888931CDH23c.8723-42_8723-40delinsACT (n.8723-42_8723-40delinsACT)
c.2656-42_2656-40delinsACT (n.2656-42_2656-40delinsACT)
c.2320-42_2320-40delinsACT (n.2320-42_2320-40delinsACT)
c.8738-42_8738-40delinsACT (n.8738-42_8738-40delinsACT)
c.2003-42_2003-40delinsACT (n.2003-42_2003-40delinsACT)
n.2259-42_2259-40delinsACT
c.8918-42_8918-40delinsACT (n.8918-42_8918-40delinsACT)
c.8852-42_8852-40delinsACT (n.8852-42_8852-40delinsACT)
c.8915-42_8915-40delinsACT (n.8915-42_8915-40delinsACT)
c.8912-42_8912-40delinsACT (n.8912-42_8912-40delinsACT)
c.8858-42_8858-40delinsACT (n.8858-42_8858-40delinsACT)
c.8828-42_8828-40delinsACT (n.8828-42_8828-40delinsACT)
c.8783-42_8783-40delinsACT (n.8783-42_8783-40delinsACT)
c.8378-42_8378-40delinsACT (n.8378-42_8378-40delinsACT)
c.7736-42_7736-40delinsACT (n.7736-42_7736-40delinsACT)
c.5246-42_5246-40delinsACT (n.5246-42_5246-40delinsACT)
10g.71809779C=CA1918888936CDH23c.8723-41C= (n.8723-41C=)
c.2656-41C= (n.2656-41C=)
c.2320-41C= (n.2320-41C=)
c.8738-41C= (n.8738-41C=)
c.2003-41C= (n.2003-41C=)
n.2259-41C=
c.8918-41C= (n.8918-41C=)
c.8852-41C= (n.8852-41C=)
c.8915-41C= (n.8915-41C=)
c.8912-41C= (n.8912-41C=)
c.8858-41C= (n.8858-41C=)
c.8828-41C= (n.8828-41C=)
c.8783-41C= (n.8783-41C=)
c.8378-41C= (n.8378-41C=)
c.7736-41C= (n.7736-41C=)
c.5246-41C= (n.5246-41C=)
10g.71809779C>GCA1918888937CDH23c.8723-41C>G (n.8723-41C>G)
c.2656-41C>G (n.2656-41C>G)
c.2320-41C>G (n.2320-41C>G)
c.8738-41C>G (n.8738-41C>G)
c.2003-41C>G (n.2003-41C>G)
n.2259-41C>G
c.8918-41C>G (n.8918-41C>G)
c.8852-41C>G (n.8852-41C>G)
c.8915-41C>G (n.8915-41C>G)
c.8912-41C>G (n.8912-41C>G)
c.8858-41C>G (n.8858-41C>G)
c.8828-41C>G (n.8828-41C>G)
c.8783-41C>G (n.8783-41C>G)
c.8378-41C>G (n.8378-41C>G)
c.7736-41C>G (n.7736-41C>G)
c.5246-41C>G (n.5246-41C>G)
 dbSNP gnomAD v4
10g.71809779C>TCA5546727CDH23c.8723-41C>T (n.8723-41C>T)
c.2656-41C>T (n.2656-41C>T)
c.2320-41C>T (n.2320-41C>T)
c.8738-41C>T (n.8738-41C>T)
c.2003-41C>T (n.2003-41C>T)
n.2259-41C>T
c.8918-41C>T (n.8918-41C>T)
c.8852-41C>T (n.8852-41C>T)
c.8915-41C>T (n.8915-41C>T)
c.8912-41C>T (n.8912-41C>T)
c.8858-41C>T (n.8858-41C>T)
c.8828-41C>T (n.8828-41C>T)
c.8783-41C>T (n.8783-41C>T)
c.8378-41C>T (n.8378-41C>T)
c.7736-41C>T (n.7736-41C>T)
c.5246-41C>T (n.5246-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809779_71809780delCA594307733CDH23c.8723-41_8723-40del (n.8723-41_8723-40del)
c.2656-41_2656-40del (n.2656-41_2656-40del)
c.2320-41_2320-40del (n.2320-41_2320-40del)
c.8738-41_8738-40del (n.8738-41_8738-40del)
c.2003-41_2003-40del (n.2003-41_2003-40del)
n.2259-41_2259-40del
c.8918-41_8918-40del (n.8918-41_8918-40del)
c.8852-41_8852-40del (n.8852-41_8852-40del)
c.8915-41_8915-40del (n.8915-41_8915-40del)
c.8912-41_8912-40del (n.8912-41_8912-40del)
c.8858-41_8858-40del (n.8858-41_8858-40del)
c.8828-41_8828-40del (n.8828-41_8828-40del)
c.8783-41_8783-40del (n.8783-41_8783-40del)
c.8378-41_8378-40del (n.8378-41_8378-40del)
c.7736-41_7736-40del (n.7736-41_7736-40del)
c.5246-41_5246-40del (n.5246-41_5246-40del)
 dbSNP gnomAD v2
10g.71809780T>CCA2574575737CDH23c.8723-40T>C (n.8723-40T>C)
c.2656-40T>C (n.2656-40T>C)
c.2320-40T>C (n.2320-40T>C)
c.8738-40T>C (n.8738-40T>C)
c.2003-40T>C (n.2003-40T>C)
n.2259-40T>C
c.8918-40T>C (n.8918-40T>C)
c.8852-40T>C (n.8852-40T>C)
c.8915-40T>C (n.8915-40T>C)
c.8912-40T>C (n.8912-40T>C)
c.8858-40T>C (n.8858-40T>C)
c.8828-40T>C (n.8828-40T>C)
c.8783-40T>C (n.8783-40T>C)
c.8378-40T>C (n.8378-40T>C)
c.7736-40T>C (n.7736-40T>C)
c.5246-40T>C (n.5246-40T>C)
 gnomAD v4
10g.71809781G>CCA209438945CDH23c.8723-39G>C (n.8723-39G>C)
c.2656-39G>C (n.2656-39G>C)
c.2320-39G>C (n.2320-39G>C)
c.8738-39G>C (n.8738-39G>C)
c.2003-39G>C (n.2003-39G>C)
n.2259-39G>C
c.8918-39G>C (n.8918-39G>C)
c.8852-39G>C (n.8852-39G>C)
c.8915-39G>C (n.8915-39G>C)
c.8912-39G>C (n.8912-39G>C)
c.8858-39G>C (n.8858-39G>C)
c.8828-39G>C (n.8828-39G>C)
c.8783-39G>C (n.8783-39G>C)
c.8378-39G>C (n.8378-39G>C)
c.7736-39G>C (n.7736-39G>C)
c.5246-39G>C (n.5246-39G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809781G=CA1918888939CDH23c.8723-39G= (n.8723-39G=)
c.2656-39G= (n.2656-39G=)
c.2320-39G= (n.2320-39G=)
c.8738-39G= (n.8738-39G=)
c.2003-39G= (n.2003-39G=)
n.2259-39G=
c.8918-39G= (n.8918-39G=)
c.8852-39G= (n.8852-39G=)
c.8915-39G= (n.8915-39G=)
c.8912-39G= (n.8912-39G=)
c.8858-39G= (n.8858-39G=)
c.8828-39G= (n.8828-39G=)
c.8783-39G= (n.8783-39G=)
c.8378-39G= (n.8378-39G=)
c.7736-39G= (n.7736-39G=)
c.5246-39G= (n.5246-39G=)
10g.71809781G>TCA2609588295CDH23c.8723-39G>T (n.8723-39G>T)
c.2656-39G>T (n.2656-39G>T)
c.2320-39G>T (n.2320-39G>T)
c.8738-39G>T (n.8738-39G>T)
c.2003-39G>T (n.2003-39G>T)
n.2259-39G>T
c.8918-39G>T (n.8918-39G>T)
c.8852-39G>T (n.8852-39G>T)
c.8915-39G>T (n.8915-39G>T)
c.8912-39G>T (n.8912-39G>T)
c.8858-39G>T (n.8858-39G>T)
c.8828-39G>T (n.8828-39G>T)
c.8783-39G>T (n.8783-39G>T)
c.8378-39G>T (n.8378-39G>T)
c.7736-39G>T (n.7736-39G>T)
c.5246-39G>T (n.5246-39G>T)
 gnomAD v4
10g.71809782A>GCA2609588297CDH23c.8723-38A>G (n.8723-38A>G)
c.2656-38A>G (n.2656-38A>G)
c.2320-38A>G (n.2320-38A>G)
c.8738-38A>G (n.8738-38A>G)
c.2003-38A>G (n.2003-38A>G)
n.2259-38A>G
c.8918-38A>G (n.8918-38A>G)
c.8852-38A>G (n.8852-38A>G)
c.8915-38A>G (n.8915-38A>G)
c.8912-38A>G (n.8912-38A>G)
c.8858-38A>G (n.8858-38A>G)
c.8828-38A>G (n.8828-38A>G)
c.8783-38A>G (n.8783-38A>G)
c.8378-38A>G (n.8378-38A>G)
c.7736-38A>G (n.7736-38A>G)
c.5246-38A>G (n.5246-38A>G)
 gnomAD v4
10g.71809783G>ACA2609588304CDH23c.8723-37G>A (n.8723-37G>A)
c.2656-37G>A (n.2656-37G>A)
c.2320-37G>A (n.2320-37G>A)
c.8738-37G>A (n.8738-37G>A)
c.2003-37G>A (n.2003-37G>A)
n.2259-37G>A
c.8918-37G>A (n.8918-37G>A)
c.8852-37G>A (n.8852-37G>A)
c.8915-37G>A (n.8915-37G>A)
c.8912-37G>A (n.8912-37G>A)
c.8858-37G>A (n.8858-37G>A)
c.8828-37G>A (n.8828-37G>A)
c.8783-37G>A (n.8783-37G>A)
c.8378-37G>A (n.8378-37G>A)
c.7736-37G>A (n.7736-37G>A)
c.5246-37G>A (n.5246-37G>A)
 gnomAD v4
10g.71809783G>TCA2609588300CDH23c.8723-37G>T (n.8723-37G>T)
c.2656-37G>T (n.2656-37G>T)
c.2320-37G>T (n.2320-37G>T)
c.8738-37G>T (n.8738-37G>T)
c.2003-37G>T (n.2003-37G>T)
n.2259-37G>T
c.8918-37G>T (n.8918-37G>T)
c.8852-37G>T (n.8852-37G>T)
c.8915-37G>T (n.8915-37G>T)
c.8912-37G>T (n.8912-37G>T)
c.8858-37G>T (n.8858-37G>T)
c.8828-37G>T (n.8828-37G>T)
c.8783-37G>T (n.8783-37G>T)
c.8378-37G>T (n.8378-37G>T)
c.7736-37G>T (n.7736-37G>T)
c.5246-37G>T (n.5246-37G>T)
 gnomAD v4
10g.71809785C>ACA2609588311CDH23c.8723-35C>A (n.8723-35C>A)
c.2656-35C>A (n.2656-35C>A)
c.2320-35C>A (n.2320-35C>A)
c.8738-35C>A (n.8738-35C>A)
c.2003-35C>A (n.2003-35C>A)
n.2259-35C>A
c.8918-35C>A (n.8918-35C>A)
c.8852-35C>A (n.8852-35C>A)
c.8915-35C>A (n.8915-35C>A)
c.8912-35C>A (n.8912-35C>A)
c.8858-35C>A (n.8858-35C>A)
c.8828-35C>A (n.8828-35C>A)
c.8783-35C>A (n.8783-35C>A)
c.8378-35C>A (n.8378-35C>A)
c.7736-35C>A (n.7736-35C>A)
c.5246-35C>A (n.5246-35C>A)
 gnomAD v4
10g.71809785C=CA1918888940CDH23c.8723-35C= (n.8723-35C=)
c.2656-35C= (n.2656-35C=)
c.2320-35C= (n.2320-35C=)
c.8738-35C= (n.8738-35C=)
c.2003-35C= (n.2003-35C=)
n.2259-35C=
c.8918-35C= (n.8918-35C=)
c.8852-35C= (n.8852-35C=)
c.8915-35C= (n.8915-35C=)
c.8912-35C= (n.8912-35C=)
c.8858-35C= (n.8858-35C=)
c.8828-35C= (n.8828-35C=)
c.8783-35C= (n.8783-35C=)
c.8378-35C= (n.8378-35C=)
c.7736-35C= (n.7736-35C=)
c.5246-35C= (n.5246-35C=)
10g.71809785C>TCA594307734CDH23c.8723-35C>T (n.8723-35C>T)
c.2656-35C>T (n.2656-35C>T)
c.2320-35C>T (n.2320-35C>T)
c.8738-35C>T (n.8738-35C>T)
c.2003-35C>T (n.2003-35C>T)
n.2259-35C>T
c.8918-35C>T (n.8918-35C>T)
c.8852-35C>T (n.8852-35C>T)
c.8915-35C>T (n.8915-35C>T)
c.8912-35C>T (n.8912-35C>T)
c.8858-35C>T (n.8858-35C>T)
c.8828-35C>T (n.8828-35C>T)
c.8783-35C>T (n.8783-35C>T)
c.8378-35C>T (n.8378-35C>T)
c.7736-35C>T (n.7736-35C>T)
c.5246-35C>T (n.5246-35C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71809786T>ACA2609588314CDH23c.8723-34T>A (n.8723-34T>A)
c.2656-34T>A (n.2656-34T>A)
c.2320-34T>A (n.2320-34T>A)
c.8738-34T>A (n.8738-34T>A)
c.2003-34T>A (n.2003-34T>A)
n.2259-34T>A
c.8918-34T>A (n.8918-34T>A)
c.8852-34T>A (n.8852-34T>A)
c.8915-34T>A (n.8915-34T>A)
c.8912-34T>A (n.8912-34T>A)
c.8858-34T>A (n.8858-34T>A)
c.8828-34T>A (n.8828-34T>A)
c.8783-34T>A (n.8783-34T>A)
c.8378-34T>A (n.8378-34T>A)
c.7736-34T>A (n.7736-34T>A)
c.5246-34T>A (n.5246-34T>A)
 gnomAD v4
10g.71809786T>CCA1918888943CDH23c.8723-34T>C (n.8723-34T>C)
c.2656-34T>C (n.2656-34T>C)
c.2320-34T>C (n.2320-34T>C)
c.8738-34T>C (n.8738-34T>C)
c.2003-34T>C (n.2003-34T>C)
n.2259-34T>C
c.8918-34T>C (n.8918-34T>C)
c.8852-34T>C (n.8852-34T>C)
c.8915-34T>C (n.8915-34T>C)
c.8912-34T>C (n.8912-34T>C)
c.8858-34T>C (n.8858-34T>C)
c.8828-34T>C (n.8828-34T>C)
c.8783-34T>C (n.8783-34T>C)
c.8378-34T>C (n.8378-34T>C)
c.7736-34T>C (n.7736-34T>C)
c.5246-34T>C (n.5246-34T>C)
 dbSNP gnomAD v4
10g.71809786T=CA1918888942CDH23c.8723-34T= (n.8723-34T=)
c.2656-34T= (n.2656-34T=)
c.2320-34T= (n.2320-34T=)
c.8738-34T= (n.8738-34T=)
c.2003-34T= (n.2003-34T=)
n.2259-34T=
c.8918-34T= (n.8918-34T=)
c.8852-34T= (n.8852-34T=)
c.8915-34T= (n.8915-34T=)
c.8912-34T= (n.8912-34T=)
c.8858-34T= (n.8858-34T=)
c.8828-34T= (n.8828-34T=)
c.8783-34T= (n.8783-34T=)
c.8378-34T= (n.8378-34T=)
c.7736-34T= (n.7736-34T=)
c.5246-34T= (n.5246-34T=)
10g.71809787C>ACA2609588317CDH23c.8723-33C>A (n.8723-33C>A)
c.2656-33C>A (n.2656-33C>A)
c.2320-33C>A (n.2320-33C>A)
c.8738-33C>A (n.8738-33C>A)
c.2003-33C>A (n.2003-33C>A)
n.2259-33C>A
c.8918-33C>A (n.8918-33C>A)
c.8852-33C>A (n.8852-33C>A)
c.8915-33C>A (n.8915-33C>A)
c.8912-33C>A (n.8912-33C>A)
c.8858-33C>A (n.8858-33C>A)
c.8828-33C>A (n.8828-33C>A)
c.8783-33C>A (n.8783-33C>A)
c.8378-33C>A (n.8378-33C>A)
c.7736-33C>A (n.7736-33C>A)
c.5246-33C>A (n.5246-33C>A)
 gnomAD v4
10g.71809787_71809805delinsCTGAGCCGTACCCCGCCTTCA1918888944CDH23c.8723-33_8723-15delinsCTGAGCCGTACCCCGCCTT (n.8723-33_8723-15delinsCTGAGCCGTACCCCGCCTT)
c.2656-33_2656-15delinsCTGAGCCGTACCCCGCCTT (n.2656-33_2656-15delinsCTGAGCCGTACCCCGCCTT)
c.2320-33_2320-15delinsCTGAGCCGTACCCCGCCTT (n.2320-33_2320-15delinsCTGAGCCGTACCCCGCCTT)
c.8738-33_8738-15delinsCTGAGCCGTACCCCGCCTT (n.8738-33_8738-15delinsCTGAGCCGTACCCCGCCTT)
c.2003-33_2003-15delinsCTGAGCCGTACCCCGCCTT (n.2003-33_2003-15delinsCTGAGCCGTACCCCGCCTT)
n.2259-33_2259-15delinsCTGAGCCGTACCCCGCCTT
c.8918-33_8918-15delinsCTGAGCCGTACCCCGCCTT (n.8918-33_8918-15delinsCTGAGCCGTACCCCGCCTT)
c.8852-33_8852-15delinsCTGAGCCGTACCCCGCCTT (n.8852-33_8852-15delinsCTGAGCCGTACCCCGCCTT)
c.8915-33_8915-15delinsCTGAGCCGTACCCCGCCTT (n.8915-33_8915-15delinsCTGAGCCGTACCCCGCCTT)
c.8912-33_8912-15delinsCTGAGCCGTACCCCGCCTT (n.8912-33_8912-15delinsCTGAGCCGTACCCCGCCTT)
c.8858-33_8858-15delinsCTGAGCCGTACCCCGCCTT (n.8858-33_8858-15delinsCTGAGCCGTACCCCGCCTT)
c.8828-33_8828-15delinsCTGAGCCGTACCCCGCCTT (n.8828-33_8828-15delinsCTGAGCCGTACCCCGCCTT)
c.8783-33_8783-15delinsCTGAGCCGTACCCCGCCTT (n.8783-33_8783-15delinsCTGAGCCGTACCCCGCCTT)
c.8378-33_8378-15delinsCTGAGCCGTACCCCGCCTT (n.8378-33_8378-15delinsCTGAGCCGTACCCCGCCTT)
c.7736-33_7736-15delinsCTGAGCCGTACCCCGCCTT (n.7736-33_7736-15delinsCTGAGCCGTACCCCGCCTT)
c.5246-33_5246-15delinsCTGAGCCGTACCCCGCCTT (n.5246-33_5246-15delinsCTGAGCCGTACCCCGCCTT)
10g.71809790_71809807delCA668122107CDH23c.8723-30_8723-13del (n.8723-30_8723-13del)
c.2656-30_2656-13del (n.2656-30_2656-13del)
c.2320-30_2320-13del (n.2320-30_2320-13del)
c.8738-30_8738-13del (n.8738-30_8738-13del)
c.2003-30_2003-13del (n.2003-30_2003-13del)
n.2259-30_2259-13del
c.8918-30_8918-13del (n.8918-30_8918-13del)
c.8852-30_8852-13del (n.8852-30_8852-13del)
c.8915-30_8915-13del (n.8915-30_8915-13del)
c.8912-30_8912-13del (n.8912-30_8912-13del)
c.8858-30_8858-13del (n.8858-30_8858-13del)
c.8828-30_8828-13del (n.8828-30_8828-13del)
c.8783-30_8783-13del (n.8783-30_8783-13del)
c.8378-30_8378-13del (n.8378-30_8378-13del)
c.7736-30_7736-13del (n.7736-30_7736-13del)
c.5246-30_5246-13del (n.5246-30_5246-13del)
 dbSNP gnomAD v3 gnomAD v4
10g.71809789G>TCA2609588320CDH23c.8723-31G>T (n.8723-31G>T)
c.2656-31G>T (n.2656-31G>T)
c.2320-31G>T (n.2320-31G>T)
c.8738-31G>T (n.8738-31G>T)
c.2003-31G>T (n.2003-31G>T)
n.2259-31G>T
c.8918-31G>T (n.8918-31G>T)
c.8852-31G>T (n.8852-31G>T)
c.8915-31G>T (n.8915-31G>T)
c.8912-31G>T (n.8912-31G>T)
c.8858-31G>T (n.8858-31G>T)
c.8828-31G>T (n.8828-31G>T)
c.8783-31G>T (n.8783-31G>T)
c.8378-31G>T (n.8378-31G>T)
c.7736-31G>T (n.7736-31G>T)
c.5246-31G>T (n.5246-31G>T)
 gnomAD v4
10g.71809790A=CA1918888946CDH23c.8723-30A= (n.8723-30A=)
c.2656-30A= (n.2656-30A=)
c.2320-30A= (n.2320-30A=)
c.8738-30A= (n.8738-30A=)
c.2003-30A= (n.2003-30A=)
n.2259-30A=
c.8918-30A= (n.8918-30A=)
c.8852-30A= (n.8852-30A=)
c.8915-30A= (n.8915-30A=)
c.8912-30A= (n.8912-30A=)
c.8858-30A= (n.8858-30A=)
c.8828-30A= (n.8828-30A=)
c.8783-30A= (n.8783-30A=)
c.8378-30A= (n.8378-30A=)
c.7736-30A= (n.7736-30A=)
c.5246-30A= (n.5246-30A=)
10g.71809790A>GCA1918888947CDH23c.8723-30A>G (n.8723-30A>G)
c.2656-30A>G (n.2656-30A>G)
c.2320-30A>G (n.2320-30A>G)
c.8738-30A>G (n.8738-30A>G)
c.2003-30A>G (n.2003-30A>G)
n.2259-30A>G
c.8918-30A>G (n.8918-30A>G)
c.8852-30A>G (n.8852-30A>G)
c.8915-30A>G (n.8915-30A>G)
c.8912-30A>G (n.8912-30A>G)
c.8858-30A>G (n.8858-30A>G)
c.8828-30A>G (n.8828-30A>G)
c.8783-30A>G (n.8783-30A>G)
c.8378-30A>G (n.8378-30A>G)
c.7736-30A>G (n.7736-30A>G)
c.5246-30A>G (n.5246-30A>G)
 dbSNP gnomAD v4
10g.71809791G>ACA594307735CDH23c.8723-29G>A (n.8723-29G>A)
c.2656-29G>A (n.2656-29G>A)
c.2320-29G>A (n.2320-29G>A)
c.8738-29G>A (n.8738-29G>A)
c.2003-29G>A (n.2003-29G>A)
n.2259-29G>A
c.8918-29G>A (n.8918-29G>A)
c.8852-29G>A (n.8852-29G>A)
c.8915-29G>A (n.8915-29G>A)
c.8912-29G>A (n.8912-29G>A)
c.8858-29G>A (n.8858-29G>A)
c.8828-29G>A (n.8828-29G>A)
c.8783-29G>A (n.8783-29G>A)
c.8378-29G>A (n.8378-29G>A)
c.7736-29G>A (n.7736-29G>A)
c.5246-29G>A (n.5246-29G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.71809791G=CA1918888948CDH23c.8723-29G= (n.8723-29G=)
c.2656-29G= (n.2656-29G=)
c.2320-29G= (n.2320-29G=)
c.8738-29G= (n.8738-29G=)
c.2003-29G= (n.2003-29G=)
n.2259-29G=
c.8918-29G= (n.8918-29G=)
c.8852-29G= (n.8852-29G=)
c.8915-29G= (n.8915-29G=)
c.8912-29G= (n.8912-29G=)
c.8858-29G= (n.8858-29G=)
c.8828-29G= (n.8828-29G=)
c.8783-29G= (n.8783-29G=)
c.8378-29G= (n.8378-29G=)
c.7736-29G= (n.7736-29G=)
c.5246-29G= (n.5246-29G=)
10g.71809791G>TCA2609588329CDH23c.8723-29G>T (n.8723-29G>T)
c.2656-29G>T (n.2656-29G>T)
c.2320-29G>T (n.2320-29G>T)
c.8738-29G>T (n.8738-29G>T)
c.2003-29G>T (n.2003-29G>T)
n.2259-29G>T
c.8918-29G>T (n.8918-29G>T)
c.8852-29G>T (n.8852-29G>T)
c.8915-29G>T (n.8915-29G>T)
c.8912-29G>T (n.8912-29G>T)
c.8858-29G>T (n.8858-29G>T)
c.8828-29G>T (n.8828-29G>T)
c.8783-29G>T (n.8783-29G>T)
c.8378-29G>T (n.8378-29G>T)
c.7736-29G>T (n.7736-29G>T)
c.5246-29G>T (n.5246-29G>T)
 gnomAD v4
10g.71809792C>ACA2609588333CDH23c.8723-28C>A (n.8723-28C>A)
c.2656-28C>A (n.2656-28C>A)
c.2320-28C>A (n.2320-28C>A)
c.8738-28C>A (n.8738-28C>A)
c.2003-28C>A (n.2003-28C>A)
n.2259-28C>A
c.8918-28C>A (n.8918-28C>A)
c.8852-28C>A (n.8852-28C>A)
c.8915-28C>A (n.8915-28C>A)
c.8912-28C>A (n.8912-28C>A)
c.8858-28C>A (n.8858-28C>A)
c.8828-28C>A (n.8828-28C>A)
c.8783-28C>A (n.8783-28C>A)
c.8378-28C>A (n.8378-28C>A)
c.7736-28C>A (n.7736-28C>A)
c.5246-28C>A (n.5246-28C>A)
 gnomAD v4
10g.71809792C>TCA2574575738CDH23c.8723-28C>T (n.8723-28C>T)
c.2656-28C>T (n.2656-28C>T)
c.2320-28C>T (n.2320-28C>T)
c.8738-28C>T (n.8738-28C>T)
c.2003-28C>T (n.2003-28C>T)
n.2259-28C>T
c.8918-28C>T (n.8918-28C>T)
c.8852-28C>T (n.8852-28C>T)
c.8915-28C>T (n.8915-28C>T)
c.8912-28C>T (n.8912-28C>T)
c.8858-28C>T (n.8858-28C>T)
c.8828-28C>T (n.8828-28C>T)
c.8783-28C>T (n.8783-28C>T)
c.8378-28C>T (n.8378-28C>T)
c.7736-28C>T (n.7736-28C>T)
c.5246-28C>T (n.5246-28C>T)
10g.71809793C=CA1918888950CDH23c.8723-27C= (n.8723-27C=)
c.2656-27C= (n.2656-27C=)
c.2320-27C= (n.2320-27C=)
c.8738-27C= (n.8738-27C=)
c.2003-27C= (n.2003-27C=)
n.2259-27C=
c.8918-27C= (n.8918-27C=)
c.8852-27C= (n.8852-27C=)
c.8915-27C= (n.8915-27C=)
c.8912-27C= (n.8912-27C=)
c.8858-27C= (n.8858-27C=)
c.8828-27C= (n.8828-27C=)
c.8783-27C= (n.8783-27C=)
c.8378-27C= (n.8378-27C=)
c.7736-27C= (n.7736-27C=)
c.5246-27C= (n.5246-27C=)
10g.71809793C>TCA5546728CDH23c.8723-27C>T (n.8723-27C>T)
c.2656-27C>T (n.2656-27C>T)
c.2320-27C>T (n.2320-27C>T)
c.8738-27C>T (n.8738-27C>T)
c.2003-27C>T (n.2003-27C>T)
n.2259-27C>T
c.8918-27C>T (n.8918-27C>T)
c.8852-27C>T (n.8852-27C>T)
c.8915-27C>T (n.8915-27C>T)
c.8912-27C>T (n.8912-27C>T)
c.8858-27C>T (n.8858-27C>T)
c.8828-27C>T (n.8828-27C>T)
c.8783-27C>T (n.8783-27C>T)
c.8378-27C>T (n.8378-27C>T)
c.7736-27C>T (n.7736-27C>T)
c.5246-27C>T (n.5246-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809794G>ACA5546729CDH23c.8723-26G>A (n.8723-26G>A)
c.2656-26G>A (n.2656-26G>A)
c.2320-26G>A (n.2320-26G>A)
c.8738-26G>A (n.8738-26G>A)
c.2003-26G>A (n.2003-26G>A)
n.2259-26G>A
c.8918-26G>A (n.8918-26G>A)
c.8852-26G>A (n.8852-26G>A)
c.8915-26G>A (n.8915-26G>A)
c.8912-26G>A (n.8912-26G>A)
c.8858-26G>A (n.8858-26G>A)
c.8828-26G>A (n.8828-26G>A)
c.8783-26G>A (n.8783-26G>A)
c.8378-26G>A (n.8378-26G>A)
c.7736-26G>A (n.7736-26G>A)
c.5246-26G>A (n.5246-26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809794G>CCA2609588340CDH23c.8723-26G>C (n.8723-26G>C)
c.2656-26G>C (n.2656-26G>C)
c.2320-26G>C (n.2320-26G>C)
c.8738-26G>C (n.8738-26G>C)
c.2003-26G>C (n.2003-26G>C)
n.2259-26G>C
c.8918-26G>C (n.8918-26G>C)
c.8852-26G>C (n.8852-26G>C)
c.8915-26G>C (n.8915-26G>C)
c.8912-26G>C (n.8912-26G>C)
c.8858-26G>C (n.8858-26G>C)
c.8828-26G>C (n.8828-26G>C)
c.8783-26G>C (n.8783-26G>C)
c.8378-26G>C (n.8378-26G>C)
c.7736-26G>C (n.7736-26G>C)
c.5246-26G>C (n.5246-26G>C)
 gnomAD v4
10g.71809794G=CA1918888952CDH23c.8723-26G= (n.8723-26G=)
c.2656-26G= (n.2656-26G=)
c.2320-26G= (n.2320-26G=)
c.8738-26G= (n.8738-26G=)
c.2003-26G= (n.2003-26G=)
n.2259-26G=
c.8918-26G= (n.8918-26G=)
c.8852-26G= (n.8852-26G=)
c.8915-26G= (n.8915-26G=)
c.8912-26G= (n.8912-26G=)
c.8858-26G= (n.8858-26G=)
c.8828-26G= (n.8828-26G=)
c.8783-26G= (n.8783-26G=)
c.8378-26G= (n.8378-26G=)
c.7736-26G= (n.7736-26G=)
c.5246-26G= (n.5246-26G=)
10g.71809794G>TCA2609588342CDH23c.8723-26G>T (n.8723-26G>T)
c.2656-26G>T (n.2656-26G>T)
c.2320-26G>T (n.2320-26G>T)
c.8738-26G>T (n.8738-26G>T)
c.2003-26G>T (n.2003-26G>T)
n.2259-26G>T
c.8918-26G>T (n.8918-26G>T)
c.8852-26G>T (n.8852-26G>T)
c.8915-26G>T (n.8915-26G>T)
c.8912-26G>T (n.8912-26G>T)
c.8858-26G>T (n.8858-26G>T)
c.8828-26G>T (n.8828-26G>T)
c.8783-26G>T (n.8783-26G>T)
c.8378-26G>T (n.8378-26G>T)
c.7736-26G>T (n.7736-26G>T)
c.5246-26G>T (n.5246-26G>T)
 gnomAD v4
10g.71809797C>ACA5546730CDH23c.8723-23C>A (n.8723-23C>A)
c.2656-23C>A (n.2656-23C>A)
c.2320-23C>A (n.2320-23C>A)
c.8738-23C>A (n.8738-23C>A)
c.2003-23C>A (n.2003-23C>A)
n.2259-23C>A
c.8918-23C>A (n.8918-23C>A)
c.8852-23C>A (n.8852-23C>A)
c.8915-23C>A (n.8915-23C>A)
c.8912-23C>A (n.8912-23C>A)
c.8858-23C>A (n.8858-23C>A)
c.8828-23C>A (n.8828-23C>A)
c.8783-23C>A (n.8783-23C>A)
c.8378-23C>A (n.8378-23C>A)
c.7736-23C>A (n.7736-23C>A)
c.5246-23C>A (n.5246-23C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809797C=CA1918888954CDH23c.8723-23C= (n.8723-23C=)
c.2656-23C= (n.2656-23C=)
c.2320-23C= (n.2320-23C=)
c.8738-23C= (n.8738-23C=)
c.2003-23C= (n.2003-23C=)
n.2259-23C=
c.8918-23C= (n.8918-23C=)
c.8852-23C= (n.8852-23C=)
c.8915-23C= (n.8915-23C=)
c.8912-23C= (n.8912-23C=)
c.8858-23C= (n.8858-23C=)
c.8828-23C= (n.8828-23C=)
c.8783-23C= (n.8783-23C=)
c.8378-23C= (n.8378-23C=)
c.7736-23C= (n.7736-23C=)
c.5246-23C= (n.5246-23C=)
10g.71809797C>TCA594307736CDH23c.8723-23C>T (n.8723-23C>T)
c.2656-23C>T (n.2656-23C>T)
c.2320-23C>T (n.2320-23C>T)
c.8738-23C>T (n.8738-23C>T)
c.2003-23C>T (n.2003-23C>T)
n.2259-23C>T
c.8918-23C>T (n.8918-23C>T)
c.8852-23C>T (n.8852-23C>T)
c.8915-23C>T (n.8915-23C>T)
c.8912-23C>T (n.8912-23C>T)
c.8858-23C>T (n.8858-23C>T)
c.8828-23C>T (n.8828-23C>T)
c.8783-23C>T (n.8783-23C>T)
c.8378-23C>T (n.8378-23C>T)
c.7736-23C>T (n.7736-23C>T)
c.5246-23C>T (n.5246-23C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71809798C>GCA2574575743CDH23c.8723-22C>G (n.8723-22C>G)
c.2656-22C>G (n.2656-22C>G)
c.2320-22C>G (n.2320-22C>G)
c.8738-22C>G (n.8738-22C>G)
c.2003-22C>G (n.2003-22C>G)
n.2259-22C>G
c.8918-22C>G (n.8918-22C>G)
c.8852-22C>G (n.8852-22C>G)
c.8915-22C>G (n.8915-22C>G)
c.8912-22C>G (n.8912-22C>G)
c.8858-22C>G (n.8858-22C>G)
c.8828-22C>G (n.8828-22C>G)
c.8783-22C>G (n.8783-22C>G)
c.8378-22C>G (n.8378-22C>G)
c.7736-22C>G (n.7736-22C>G)
c.5246-22C>G (n.5246-22C>G)
10g.71809798C>TCA2609588348CDH23c.8723-22C>T (n.8723-22C>T)
c.2656-22C>T (n.2656-22C>T)
c.2320-22C>T (n.2320-22C>T)
c.8738-22C>T (n.8738-22C>T)
c.2003-22C>T (n.2003-22C>T)
n.2259-22C>T
c.8918-22C>T (n.8918-22C>T)
c.8852-22C>T (n.8852-22C>T)
c.8915-22C>T (n.8915-22C>T)
c.8912-22C>T (n.8912-22C>T)
c.8858-22C>T (n.8858-22C>T)
c.8828-22C>T (n.8828-22C>T)
c.8783-22C>T (n.8783-22C>T)
c.8378-22C>T (n.8378-22C>T)
c.7736-22C>T (n.7736-22C>T)
c.5246-22C>T (n.5246-22C>T)
 gnomAD v4
10g.71809799C>ACA2609588351CDH23c.8723-21C>A (n.8723-21C>A)
c.2656-21C>A (n.2656-21C>A)
c.2320-21C>A (n.2320-21C>A)
c.8738-21C>A (n.8738-21C>A)
c.2003-21C>A (n.2003-21C>A)
n.2259-21C>A
c.8918-21C>A (n.8918-21C>A)
c.8852-21C>A (n.8852-21C>A)
c.8915-21C>A (n.8915-21C>A)
c.8912-21C>A (n.8912-21C>A)
c.8858-21C>A (n.8858-21C>A)
c.8828-21C>A (n.8828-21C>A)
c.8783-21C>A (n.8783-21C>A)
c.8378-21C>A (n.8378-21C>A)
c.7736-21C>A (n.7736-21C>A)
c.5246-21C>A (n.5246-21C>A)
 gnomAD v4
10g.71809799C=CA1918888957CDH23c.8723-21C= (n.8723-21C=)
c.2656-21C= (n.2656-21C=)
c.2320-21C= (n.2320-21C=)
c.8738-21C= (n.8738-21C=)
c.2003-21C= (n.2003-21C=)
n.2259-21C=
c.8918-21C= (n.8918-21C=)
c.8852-21C= (n.8852-21C=)
c.8915-21C= (n.8915-21C=)
c.8912-21C= (n.8912-21C=)
c.8858-21C= (n.8858-21C=)
c.8828-21C= (n.8828-21C=)
c.8783-21C= (n.8783-21C=)
c.8378-21C= (n.8378-21C=)
c.7736-21C= (n.7736-21C=)
c.5246-21C= (n.5246-21C=)
10g.71809799C>TCA5546731CDH23c.8723-21C>T (n.8723-21C>T)
c.2656-21C>T (n.2656-21C>T)
c.2320-21C>T (n.2320-21C>T)
c.8738-21C>T (n.8738-21C>T)
c.2003-21C>T (n.2003-21C>T)
n.2259-21C>T
c.8918-21C>T (n.8918-21C>T)
c.8852-21C>T (n.8852-21C>T)
c.8915-21C>T (n.8915-21C>T)
c.8912-21C>T (n.8912-21C>T)
c.8858-21C>T (n.8858-21C>T)
c.8828-21C>T (n.8828-21C>T)
c.8783-21C>T (n.8783-21C>T)
c.8378-21C>T (n.8378-21C>T)
c.7736-21C>T (n.7736-21C>T)
c.5246-21C>T (n.5246-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809800C>ACA2609588356CDH23c.8723-20C>A (n.8723-20C>A)
c.2656-20C>A (n.2656-20C>A)
c.2320-20C>A (n.2320-20C>A)
c.8738-20C>A (n.8738-20C>A)
c.2003-20C>A (n.2003-20C>A)
n.2259-20C>A
c.8918-20C>A (n.8918-20C>A)
c.8852-20C>A (n.8852-20C>A)
c.8915-20C>A (n.8915-20C>A)
c.8912-20C>A (n.8912-20C>A)
c.8858-20C>A (n.8858-20C>A)
c.8828-20C>A (n.8828-20C>A)
c.8783-20C>A (n.8783-20C>A)
c.8378-20C>A (n.8378-20C>A)
c.7736-20C>A (n.7736-20C>A)
c.5246-20C>A (n.5246-20C>A)
 gnomAD v4
10g.71809800C=CA1918888960CDH23c.8723-20C= (n.8723-20C=)
c.2656-20C= (n.2656-20C=)
c.2320-20C= (n.2320-20C=)
c.8738-20C= (n.8738-20C=)
c.2003-20C= (n.2003-20C=)
n.2259-20C=
c.8918-20C= (n.8918-20C=)
c.8852-20C= (n.8852-20C=)
c.8915-20C= (n.8915-20C=)
c.8912-20C= (n.8912-20C=)
c.8858-20C= (n.8858-20C=)
c.8828-20C= (n.8828-20C=)
c.8783-20C= (n.8783-20C=)
c.8378-20C= (n.8378-20C=)
c.7736-20C= (n.7736-20C=)
c.5246-20C= (n.5246-20C=)
10g.71809800C>TCA594307737CDH23c.8723-20C>T (n.8723-20C>T)
c.2656-20C>T (n.2656-20C>T)
c.2320-20C>T (n.2320-20C>T)
c.8738-20C>T (n.8738-20C>T)
c.2003-20C>T (n.2003-20C>T)
n.2259-20C>T
c.8918-20C>T (n.8918-20C>T)
c.8852-20C>T (n.8852-20C>T)
c.8915-20C>T (n.8915-20C>T)
c.8912-20C>T (n.8912-20C>T)
c.8858-20C>T (n.8858-20C>T)
c.8828-20C>T (n.8828-20C>T)
c.8783-20C>T (n.8783-20C>T)
c.8378-20C>T (n.8378-20C>T)
c.7736-20C>T (n.7736-20C>T)
c.5246-20C>T (n.5246-20C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809801G>ACA5546732CDH23c.8723-19G>A (n.8723-19G>A)
c.2656-19G>A (n.2656-19G>A)
c.2320-19G>A (n.2320-19G>A)
c.8738-19G>A (n.8738-19G>A)
c.2003-19G>A (n.2003-19G>A)
n.2259-19G>A
c.8918-19G>A (n.8918-19G>A)
c.8852-19G>A (n.8852-19G>A)
c.8915-19G>A (n.8915-19G>A)
c.8912-19G>A (n.8912-19G>A)
c.8858-19G>A (n.8858-19G>A)
c.8828-19G>A (n.8828-19G>A)
c.8783-19G>A (n.8783-19G>A)
c.8378-19G>A (n.8378-19G>A)
c.7736-19G>A (n.7736-19G>A)
c.5246-19G>A (n.5246-19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809801G=CA1918888962CDH23c.8723-19G= (n.8723-19G=)
c.2656-19G= (n.2656-19G=)
c.2320-19G= (n.2320-19G=)
c.8738-19G= (n.8738-19G=)
c.2003-19G= (n.2003-19G=)
n.2259-19G=
c.8918-19G= (n.8918-19G=)
c.8852-19G= (n.8852-19G=)
c.8915-19G= (n.8915-19G=)
c.8912-19G= (n.8912-19G=)
c.8858-19G= (n.8858-19G=)
c.8828-19G= (n.8828-19G=)
c.8783-19G= (n.8783-19G=)
c.8378-19G= (n.8378-19G=)
c.7736-19G= (n.7736-19G=)
c.5246-19G= (n.5246-19G=)
10g.71809801G>TCA2609588364CDH23c.8723-19G>T (n.8723-19G>T)
c.2656-19G>T (n.2656-19G>T)
c.2320-19G>T (n.2320-19G>T)
c.8738-19G>T (n.8738-19G>T)
c.2003-19G>T (n.2003-19G>T)
n.2259-19G>T
c.8918-19G>T (n.8918-19G>T)
c.8852-19G>T (n.8852-19G>T)
c.8915-19G>T (n.8915-19G>T)
c.8912-19G>T (n.8912-19G>T)
c.8858-19G>T (n.8858-19G>T)
c.8828-19G>T (n.8828-19G>T)
c.8783-19G>T (n.8783-19G>T)
c.8378-19G>T (n.8378-19G>T)
c.7736-19G>T (n.7736-19G>T)
c.5246-19G>T (n.5246-19G>T)
 gnomAD v4
10g.71809802C>ACA668122124CDH23c.8723-18C>A (n.8723-18C>A)
c.2656-18C>A (n.2656-18C>A)
c.2320-18C>A (n.2320-18C>A)
c.8738-18C>A (n.8738-18C>A)
c.2003-18C>A (n.2003-18C>A)
n.2259-18C>A
c.8918-18C>A (n.8918-18C>A)
c.8852-18C>A (n.8852-18C>A)
c.8915-18C>A (n.8915-18C>A)
c.8912-18C>A (n.8912-18C>A)
c.8858-18C>A (n.8858-18C>A)
c.8828-18C>A (n.8828-18C>A)
c.8783-18C>A (n.8783-18C>A)
c.8378-18C>A (n.8378-18C>A)
c.7736-18C>A (n.7736-18C>A)
c.5246-18C>A (n.5246-18C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.71809802C=CA1918888965CDH23c.8723-18C= (n.8723-18C=)
c.2656-18C= (n.2656-18C=)
c.2320-18C= (n.2320-18C=)
c.8738-18C= (n.8738-18C=)
c.2003-18C= (n.2003-18C=)
n.2259-18C=
c.8918-18C= (n.8918-18C=)
c.8852-18C= (n.8852-18C=)
c.8915-18C= (n.8915-18C=)
c.8912-18C= (n.8912-18C=)
c.8858-18C= (n.8858-18C=)
c.8828-18C= (n.8828-18C=)
c.8783-18C= (n.8783-18C=)
c.8378-18C= (n.8378-18C=)
c.7736-18C= (n.7736-18C=)
c.5246-18C= (n.5246-18C=)
10g.71809802C>TCA209438986CDH23c.8723-18C>T (n.8723-18C>T)
c.2656-18C>T (n.2656-18C>T)
c.2320-18C>T (n.2320-18C>T)
c.8738-18C>T (n.8738-18C>T)
c.2003-18C>T (n.2003-18C>T)
n.2259-18C>T
c.8918-18C>T (n.8918-18C>T)
c.8852-18C>T (n.8852-18C>T)
c.8915-18C>T (n.8915-18C>T)
c.8912-18C>T (n.8912-18C>T)
c.8858-18C>T (n.8858-18C>T)
c.8828-18C>T (n.8828-18C>T)
c.8783-18C>T (n.8783-18C>T)
c.8378-18C>T (n.8378-18C>T)
c.7736-18C>T (n.7736-18C>T)
c.5246-18C>T (n.5246-18C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71809803delCA2788481232CDH23c.8723-17del (n.8723-17del)
c.2656-17del (n.2656-17del)
c.2320-17del (n.2320-17del)
c.8738-17del (n.8738-17del)
c.2003-17del (n.2003-17del)
n.2259-17del
c.8918-17del (n.8918-17del)
c.8852-17del (n.8852-17del)
c.8915-17del (n.8915-17del)
c.8912-17del (n.8912-17del)
c.8858-17del (n.8858-17del)
c.8828-17del (n.8828-17del)
c.8783-17del (n.8783-17del)
c.8378-17del (n.8378-17del)
c.7736-17del (n.7736-17del)
c.5246-17del (n.5246-17del)
10g.71809804T>CCA2609588374CDH23c.8723-16T>C (n.8723-16T>C)
c.2656-16T>C (n.2656-16T>C)
c.2320-16T>C (n.2320-16T>C)
c.8738-16T>C (n.8738-16T>C)
c.2003-16T>C (n.2003-16T>C)
n.2259-16T>C
c.8918-16T>C (n.8918-16T>C)
c.8852-16T>C (n.8852-16T>C)
c.8915-16T>C (n.8915-16T>C)
c.8912-16T>C (n.8912-16T>C)
c.8858-16T>C (n.8858-16T>C)
c.8828-16T>C (n.8828-16T>C)
c.8783-16T>C (n.8783-16T>C)
c.8378-16T>C (n.8378-16T>C)
c.7736-16T>C (n.7736-16T>C)
c.5246-16T>C (n.5246-16T>C)
 gnomAD v4
10g.71809806delCA2609588373CDH23c.8723-14del (n.8723-14del)
c.2656-14del (n.2656-14del)
c.2320-14del (n.2320-14del)
c.8738-14del (n.8738-14del)
c.2003-14del (n.2003-14del)
n.2259-14del
c.8918-14del (n.8918-14del)
c.8852-14del (n.8852-14del)
c.8915-14del (n.8915-14del)
c.8912-14del (n.8912-14del)
c.8858-14del (n.8858-14del)
c.8828-14del (n.8828-14del)
c.8783-14del (n.8783-14del)
c.8378-14del (n.8378-14del)
c.7736-14del (n.7736-14del)
c.5246-14del (n.5246-14del)
 gnomAD v4
10g.71809805T>CCA2609588376CDH23c.8723-15T>C (n.8723-15T>C)
c.2656-15T>C (n.2656-15T>C)
c.2320-15T>C (n.2320-15T>C)
c.8738-15T>C (n.8738-15T>C)
c.2003-15T>C (n.2003-15T>C)
n.2259-15T>C
c.8918-15T>C (n.8918-15T>C)
c.8852-15T>C (n.8852-15T>C)
c.8915-15T>C (n.8915-15T>C)
c.8912-15T>C (n.8912-15T>C)
c.8858-15T>C (n.8858-15T>C)
c.8828-15T>C (n.8828-15T>C)
c.8783-15T>C (n.8783-15T>C)
c.8378-15T>C (n.8378-15T>C)
c.7736-15T>C (n.7736-15T>C)
c.5246-15T>C (n.5246-15T>C)
 gnomAD v4
10g.71809806T>CCA1918888968CDH23c.8723-14T>C (n.8723-14T>C)
c.2656-14T>C (n.2656-14T>C)
c.2320-14T>C (n.2320-14T>C)
c.8738-14T>C (n.8738-14T>C)
c.2003-14T>C (n.2003-14T>C)
n.2259-14T>C
c.8918-14T>C (n.8918-14T>C)
c.8852-14T>C (n.8852-14T>C)
c.8915-14T>C (n.8915-14T>C)
c.8912-14T>C (n.8912-14T>C)
c.8858-14T>C (n.8858-14T>C)
c.8828-14T>C (n.8828-14T>C)
c.8783-14T>C (n.8783-14T>C)
c.8378-14T>C (n.8378-14T>C)
c.7736-14T>C (n.7736-14T>C)
c.5246-14T>C (n.5246-14T>C)
 dbSNP gnomAD v4
10g.71809806T=CA1918888967CDH23c.8723-14T= (n.8723-14T=)
c.2656-14T= (n.2656-14T=)
c.2320-14T= (n.2320-14T=)
c.8738-14T= (n.8738-14T=)
c.2003-14T= (n.2003-14T=)
n.2259-14T=
c.8918-14T= (n.8918-14T=)
c.8852-14T= (n.8852-14T=)
c.8915-14T= (n.8915-14T=)
c.8912-14T= (n.8912-14T=)
c.8858-14T= (n.8858-14T=)
c.8828-14T= (n.8828-14T=)
c.8783-14T= (n.8783-14T=)
c.8378-14T= (n.8378-14T=)
c.7736-14T= (n.7736-14T=)
c.5246-14T= (n.5246-14T=)
10g.71809808G>ACA929786639CDH23c.8723-12G>A (n.8723-12G>A)
c.2656-12G>A (n.2656-12G>A)
c.2320-12G>A (n.2320-12G>A)
c.8738-12G>A (n.8738-12G>A)
c.2003-12G>A (n.2003-12G>A)
n.2259-12G>A
c.8918-12G>A (n.8918-12G>A)
c.8852-12G>A (n.8852-12G>A)
c.8915-12G>A (n.8915-12G>A)
c.8912-12G>A (n.8912-12G>A)
c.8858-12G>A (n.8858-12G>A)
c.8828-12G>A (n.8828-12G>A)
c.8783-12G>A (n.8783-12G>A)
c.8378-12G>A (n.8378-12G>A)
c.7736-12G>A (n.7736-12G>A)
c.5246-12G>A (n.5246-12G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.71809808G=CA1918888969CDH23c.8723-12G= (n.8723-12G=)
c.2656-12G= (n.2656-12G=)
c.2320-12G= (n.2320-12G=)
c.8738-12G= (n.8738-12G=)
c.2003-12G= (n.2003-12G=)
n.2259-12G=
c.8918-12G= (n.8918-12G=)
c.8852-12G= (n.8852-12G=)
c.8915-12G= (n.8915-12G=)
c.8912-12G= (n.8912-12G=)
c.8858-12G= (n.8858-12G=)
c.8828-12G= (n.8828-12G=)
c.8783-12G= (n.8783-12G=)
c.8378-12G= (n.8378-12G=)
c.7736-12G= (n.7736-12G=)
c.5246-12G= (n.5246-12G=)
10g.71809809G>ACA2574575749CDH23c.8723-11G>A (n.8723-11G>A)
c.2656-11G>A (n.2656-11G>A)
c.2320-11G>A (n.2320-11G>A)
c.8738-11G>A (n.8738-11G>A)
c.2003-11G>A (n.2003-11G>A)
n.2259-11G>A
c.8918-11G>A (n.8918-11G>A)
c.8852-11G>A (n.8852-11G>A)
c.8915-11G>A (n.8915-11G>A)
c.8912-11G>A (n.8912-11G>A)
c.8858-11G>A (n.8858-11G>A)
c.8828-11G>A (n.8828-11G>A)
c.8783-11G>A (n.8783-11G>A)
c.8378-11G>A (n.8378-11G>A)
c.7736-11G>A (n.7736-11G>A)
c.5246-11G>A (n.5246-11G>A)
 gnomAD v4
10g.71809809G>TCA2609588385CDH23c.8723-11G>T (n.8723-11G>T)
c.2656-11G>T (n.2656-11G>T)
c.2320-11G>T (n.2320-11G>T)
c.8738-11G>T (n.8738-11G>T)
c.2003-11G>T (n.2003-11G>T)
n.2259-11G>T
c.8918-11G>T (n.8918-11G>T)
c.8852-11G>T (n.8852-11G>T)
c.8915-11G>T (n.8915-11G>T)
c.8912-11G>T (n.8912-11G>T)
c.8858-11G>T (n.8858-11G>T)
c.8828-11G>T (n.8828-11G>T)
c.8783-11G>T (n.8783-11G>T)
c.8378-11G>T (n.8378-11G>T)
c.7736-11G>T (n.7736-11G>T)
c.5246-11G>T (n.5246-11G>T)
 gnomAD v4
10g.71809811_71809817delCA2609588381CDH23c.8723-9_8723-3del (n.8723-9_8723-3del)
c.2656-9_2656-3del (n.2656-9_2656-3del)
c.2320-9_2320-3del (n.2320-9_2320-3del)
c.8738-9_8738-3del (n.8738-9_8738-3del)
c.2003-9_2003-3del (n.2003-9_2003-3del)
n.2259-9_2259-3del
c.8918-9_8918-3del (n.8918-9_8918-3del)
c.8852-9_8852-3del (n.8852-9_8852-3del)
c.8915-9_8915-3del (n.8915-9_8915-3del)
c.8912-9_8912-3del (n.8912-9_8912-3del)
c.8858-9_8858-3del (n.8858-9_8858-3del)
c.8828-9_8828-3del (n.8828-9_8828-3del)
c.8783-9_8783-3del (n.8783-9_8783-3del)
c.8378-9_8378-3del (n.8378-9_8378-3del)
c.7736-9_7736-3del (n.7736-9_7736-3del)
c.5246-9_5246-3del (n.5246-9_5246-3del)
 gnomAD v4
10g.71809810C>ACA2609588388CDH23c.8723-10C>A (n.8723-10C>A)
c.2656-10C>A (n.2656-10C>A)
c.2320-10C>A (n.2320-10C>A)
c.8738-10C>A (n.8738-10C>A)
c.2003-10C>A (n.2003-10C>A)
n.2259-10C>A
c.8918-10C>A (n.8918-10C>A)
c.8852-10C>A (n.8852-10C>A)
c.8915-10C>A (n.8915-10C>A)
c.8912-10C>A (n.8912-10C>A)
c.8858-10C>A (n.8858-10C>A)
c.8828-10C>A (n.8828-10C>A)
c.8783-10C>A (n.8783-10C>A)
c.8378-10C>A (n.8378-10C>A)
c.7736-10C>A (n.7736-10C>A)
c.5246-10C>A (n.5246-10C>A)
 gnomAD v4
10g.71809810C=CA1918888972CDH23c.8723-10C= (n.8723-10C=)
c.2656-10C= (n.2656-10C=)
c.2320-10C= (n.2320-10C=)
c.8738-10C= (n.8738-10C=)
c.2003-10C= (n.2003-10C=)
n.2259-10C=
c.8918-10C= (n.8918-10C=)
c.8852-10C= (n.8852-10C=)
c.8915-10C= (n.8915-10C=)
c.8912-10C= (n.8912-10C=)
c.8858-10C= (n.8858-10C=)
c.8828-10C= (n.8828-10C=)
c.8783-10C= (n.8783-10C=)
c.8378-10C= (n.8378-10C=)
c.7736-10C= (n.7736-10C=)
c.5246-10C= (n.5246-10C=)
10g.71809810C>TCA594307738CDH23c.8723-10C>T (n.8723-10C>T)
c.2656-10C>T (n.2656-10C>T)
c.2320-10C>T (n.2320-10C>T)
c.8738-10C>T (n.8738-10C>T)
c.2003-10C>T (n.2003-10C>T)
n.2259-10C>T
c.8918-10C>T (n.8918-10C>T)
c.8852-10C>T (n.8852-10C>T)
c.8915-10C>T (n.8915-10C>T)
c.8912-10C>T (n.8912-10C>T)
c.8858-10C>T (n.8858-10C>T)
c.8828-10C>T (n.8828-10C>T)
c.8783-10C>T (n.8783-10C>T)
c.8378-10C>T (n.8378-10C>T)
c.7736-10C>T (n.7736-10C>T)
c.5246-10C>T (n.5246-10C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71809811_71809813delCA2574575750CDH23c.8723-9_8723-7del (n.8723-9_8723-7del)
c.2656-9_2656-7del (n.2656-9_2656-7del)
c.2320-9_2320-7del (n.2320-9_2320-7del)
c.8738-9_8738-7del (n.8738-9_8738-7del)
c.2003-9_2003-7del (n.2003-9_2003-7del)
n.2259-9_2259-7del
c.8918-9_8918-7del (n.8918-9_8918-7del)
c.8852-9_8852-7del (n.8852-9_8852-7del)
c.8915-9_8915-7del (n.8915-9_8915-7del)
c.8912-9_8912-7del (n.8912-9_8912-7del)
c.8858-9_8858-7del (n.8858-9_8858-7del)
c.8828-9_8828-7del (n.8828-9_8828-7del)
c.8783-9_8783-7del (n.8783-9_8783-7del)
c.8378-9_8378-7del (n.8378-9_8378-7del)
c.7736-9_7736-7del (n.7736-9_7736-7del)
c.5246-9_5246-7del (n.5246-9_5246-7del)
10g.71809812T>CCA594307739CDH23c.8723-8T>C (n.8723-8T>C)
c.2656-8T>C (n.2656-8T>C)
c.2320-8T>C (n.2320-8T>C)
c.8738-8T>C (n.8738-8T>C)
c.2003-8T>C (n.2003-8T>C)
n.2259-8T>C
c.8918-8T>C (n.8918-8T>C)
c.8852-8T>C (n.8852-8T>C)
c.8915-8T>C (n.8915-8T>C)
c.8912-8T>C (n.8912-8T>C)
c.8858-8T>C (n.8858-8T>C)
c.8828-8T>C (n.8828-8T>C)
c.8783-8T>C (n.8783-8T>C)
c.8378-8T>C (n.8378-8T>C)
c.7736-8T>C (n.7736-8T>C)
c.5246-8T>C (n.5246-8T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809812T=CA1918888974CDH23c.8723-8T= (n.8723-8T=)
c.2656-8T= (n.2656-8T=)
c.2320-8T= (n.2320-8T=)
c.8738-8T= (n.8738-8T=)
c.2003-8T= (n.2003-8T=)
n.2259-8T=
c.8918-8T= (n.8918-8T=)
c.8852-8T= (n.8852-8T=)
c.8915-8T= (n.8915-8T=)
c.8912-8T= (n.8912-8T=)
c.8858-8T= (n.8858-8T=)
c.8828-8T= (n.8828-8T=)
c.8783-8T= (n.8783-8T=)
c.8378-8T= (n.8378-8T=)
c.7736-8T= (n.7736-8T=)
c.5246-8T= (n.5246-8T=)
10g.71809814C>TCA2609588397CDH23c.8723-6C>T (n.8723-6C>T)
c.2656-6C>T (n.2656-6C>T)
c.2320-6C>T (n.2320-6C>T)
c.8738-6C>T (n.8738-6C>T)
c.2003-6C>T (n.2003-6C>T)
n.2259-6C>T
c.8918-6C>T (n.8918-6C>T)
c.8852-6C>T (n.8852-6C>T)
c.8915-6C>T (n.8915-6C>T)
c.8912-6C>T (n.8912-6C>T)
c.8858-6C>T (n.8858-6C>T)
c.8828-6C>T (n.8828-6C>T)
c.8783-6C>T (n.8783-6C>T)
c.8378-6C>T (n.8378-6C>T)
c.7736-6C>T (n.7736-6C>T)
c.5246-6C>T (n.5246-6C>T)
 gnomAD v4
10g.71809815T>ACA2722017249CDH23c.8723-5T>A (n.8723-5T>A)
c.2656-5T>A (n.2656-5T>A)
c.2320-5T>A (n.2320-5T>A)
c.8738-5T>A (n.8738-5T>A)
c.2003-5T>A (n.2003-5T>A)
n.2259-5T>A
c.8918-5T>A (n.8918-5T>A)
c.8852-5T>A (n.8852-5T>A)
c.8915-5T>A (n.8915-5T>A)
c.8912-5T>A (n.8912-5T>A)
c.8858-5T>A (n.8858-5T>A)
c.8828-5T>A (n.8828-5T>A)
c.8783-5T>A (n.8783-5T>A)
c.8378-5T>A (n.8378-5T>A)
c.7736-5T>A (n.7736-5T>A)
c.5246-5T>A (n.5246-5T>A)
 dbSNP
10g.71809815T>CCA5546733CDH23c.8723-5T>C (n.8723-5T>C)
c.2656-5T>C (n.2656-5T>C)
c.2320-5T>C (n.2320-5T>C)
c.8738-5T>C (n.8738-5T>C)
c.2003-5T>C (n.2003-5T>C)
n.2259-5T>C
c.8918-5T>C (n.8918-5T>C)
c.8852-5T>C (n.8852-5T>C)
c.8915-5T>C (n.8915-5T>C)
c.8912-5T>C (n.8912-5T>C)
c.8858-5T>C (n.8858-5T>C)
c.8828-5T>C (n.8828-5T>C)
c.8783-5T>C (n.8783-5T>C)
c.8378-5T>C (n.8378-5T>C)
c.7736-5T>C (n.7736-5T>C)
c.5246-5T>C (n.5246-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809815T>GCA2609588401CDH23c.8723-5T>G (n.8723-5T>G)
c.2656-5T>G (n.2656-5T>G)
c.2320-5T>G (n.2320-5T>G)
c.8738-5T>G (n.8738-5T>G)
c.2003-5T>G (n.2003-5T>G)
n.2259-5T>G
c.8918-5T>G (n.8918-5T>G)
c.8852-5T>G (n.8852-5T>G)
c.8915-5T>G (n.8915-5T>G)
c.8912-5T>G (n.8912-5T>G)
c.8858-5T>G (n.8858-5T>G)
c.8828-5T>G (n.8828-5T>G)
c.8783-5T>G (n.8783-5T>G)
c.8378-5T>G (n.8378-5T>G)
c.7736-5T>G (n.7736-5T>G)
c.5246-5T>G (n.5246-5T>G)
 gnomAD v4
10g.71809815T=CA1918888977CDH23c.8723-5T= (n.8723-5T=)
c.2656-5T= (n.2656-5T=)
c.2320-5T= (n.2320-5T=)
c.8738-5T= (n.8738-5T=)
c.2003-5T= (n.2003-5T=)
n.2259-5T=
c.8918-5T= (n.8918-5T=)
c.8852-5T= (n.8852-5T=)
c.8915-5T= (n.8915-5T=)
c.8912-5T= (n.8912-5T=)
c.8858-5T= (n.8858-5T=)
c.8828-5T= (n.8828-5T=)
c.8783-5T= (n.8783-5T=)
c.8378-5T= (n.8378-5T=)
c.7736-5T= (n.7736-5T=)
c.5246-5T= (n.5246-5T=)
10g.71809815_71809822delinsTGCAGGGACA1918888980CDH23c.8723-5_8725delinsTGCAGGGA
c.2656-5_2658delinsTGCAGGGA
c.2320-5_2322delinsTGCAGGGA
c.8738-5_8740delinsTGCAGGGA
c.2003-5_2005delinsTGCAGGGA
n.2259-5_2261delinsTGCAGGGA
c.8918-5_8920delinsTGCAGGGA
c.8852-5_8854delinsTGCAGGGA
c.8915-5_8917delinsTGCAGGGA
c.8912-5_8914delinsTGCAGGGA
c.8858-5_8860delinsTGCAGGGA
c.8828-5_8830delinsTGCAGGGA
c.8783-5_8785delinsTGCAGGGA
c.8378-5_8380delinsTGCAGGGA
c.7736-5_7738delinsTGCAGGGA
c.5246-5_5248delinsTGCAGGGA
10g.71809816G>ACA137602CDH23c.8723-4G>A (n.8723-4G>A)
c.2656-4G>A (n.2656-4G>A)
c.2320-4G>A (n.2320-4G>A)
c.8738-4G>A (n.8738-4G>A)
c.2003-4G>A (n.2003-4G>A)
n.2259-4G>A
c.8918-4G>A (n.8918-4G>A)
c.8852-4G>A (n.8852-4G>A)
c.8915-4G>A (n.8915-4G>A)
c.8912-4G>A (n.8912-4G>A)
c.8858-4G>A (n.8858-4G>A)
c.8828-4G>A (n.8828-4G>A)
c.8783-4G>A (n.8783-4G>A)
c.8378-4G>A (n.8378-4G>A)
c.7736-4G>A (n.7736-4G>A)
c.5246-4G>A (n.5246-4G>A)
 ClinVar dbSNP gnomAD v4
10g.71809816G=CA1918888985CDH23c.8723-4G= (n.8723-4G=)
c.2656-4G= (n.2656-4G=)
c.2320-4G= (n.2320-4G=)
c.8738-4G= (n.8738-4G=)
c.2003-4G= (n.2003-4G=)
n.2259-4G=
c.8918-4G= (n.8918-4G=)
c.8852-4G= (n.8852-4G=)
c.8915-4G= (n.8915-4G=)
c.8912-4G= (n.8912-4G=)
c.8858-4G= (n.8858-4G=)
c.8828-4G= (n.8828-4G=)
c.8783-4G= (n.8783-4G=)
c.8378-4G= (n.8378-4G=)
c.7736-4G= (n.7736-4G=)
c.5246-4G= (n.5246-4G=)
10g.71809819_71809825delCA915945963CDH23c.8723-1_8728del
c.2656-1_2661del
c.2320-1_2325del
c.8738-1_8743del
c.2003-1_2008del
n.2259-1_2264del
c.8918-1_8923del
c.8852-1_8857del
c.8915-1_8920del
c.8912-1_8917del
c.8858-1_8863del
c.8828-1_8833del
c.8783-1_8788del
c.8378-1_8383del
c.7736-1_7741del
c.5246-1_5251del
 ClinVar dbSNP
10g.71809817C>ACA2609588415CDH23c.8723-3C>A (n.8723-3C>A)
c.2656-3C>A (n.2656-3C>A)
c.2320-3C>A (n.2320-3C>A)
c.8738-3C>A (n.8738-3C>A)
c.2003-3C>A (n.2003-3C>A)
n.2259-3C>A
c.8918-3C>A (n.8918-3C>A)
c.8852-3C>A (n.8852-3C>A)
c.8915-3C>A (n.8915-3C>A)
c.8912-3C>A (n.8912-3C>A)
c.8858-3C>A (n.8858-3C>A)
c.8828-3C>A (n.8828-3C>A)
c.8783-3C>A (n.8783-3C>A)
c.8378-3C>A (n.8378-3C>A)
c.7736-3C>A (n.7736-3C>A)
c.5246-3C>A (n.5246-3C>A)
 gnomAD v4
10g.71809818A>CCA377133001CDH23c.8723-2A>C (n.8723-2A>C)
c.2656-2A>C (n.2656-2A>C)
c.2320-2A>C (n.2320-2A>C)
c.8738-2A>C (n.8738-2A>C)
c.2003-2A>C (n.2003-2A>C)
n.2259-2A>C
c.8918-2A>C (n.8918-2A>C)
c.8852-2A>C (n.8852-2A>C)
c.8915-2A>C (n.8915-2A>C)
c.8912-2A>C (n.8912-2A>C)
c.8858-2A>C (n.8858-2A>C)
c.8828-2A>C (n.8828-2A>C)
c.8783-2A>C (n.8783-2A>C)
c.8378-2A>C (n.8378-2A>C)
c.7736-2A>C (n.7736-2A>C)
c.5246-2A>C (n.5246-2A>C)
10g.71809818A>GCA377133002CDH23c.8723-2A>G (n.8723-2A>G)
c.2656-2A>G (n.2656-2A>G)
c.2320-2A>G (n.2320-2A>G)
c.8738-2A>G (n.8738-2A>G)
c.2003-2A>G (n.2003-2A>G)
n.2259-2A>G
c.8918-2A>G (n.8918-2A>G)
c.8852-2A>G (n.8852-2A>G)
c.8915-2A>G (n.8915-2A>G)
c.8912-2A>G (n.8912-2A>G)
c.8858-2A>G (n.8858-2A>G)
c.8828-2A>G (n.8828-2A>G)
c.8783-2A>G (n.8783-2A>G)
c.8378-2A>G (n.8378-2A>G)
c.7736-2A>G (n.7736-2A>G)
c.5246-2A>G (n.5246-2A>G)
 ClinVar
10g.71809818A>TCA377133003CDH23c.8723-2A>T (n.8723-2A>T)
c.2656-2A>T (n.2656-2A>T)
c.2320-2A>T (n.2320-2A>T)
c.8738-2A>T (n.8738-2A>T)
c.2003-2A>T (n.2003-2A>T)
n.2259-2A>T
c.8918-2A>T (n.8918-2A>T)
c.8852-2A>T (n.8852-2A>T)
c.8915-2A>T (n.8915-2A>T)
c.8912-2A>T (n.8912-2A>T)
c.8858-2A>T (n.8858-2A>T)
c.8828-2A>T (n.8828-2A>T)
c.8783-2A>T (n.8783-2A>T)
c.8378-2A>T (n.8378-2A>T)
c.7736-2A>T (n.7736-2A>T)
c.5246-2A>T (n.5246-2A>T)
10g.71809819G>ACA377133004CDH23c.8723-1G>A (n.8723-1G>A)
c.2656-1G>A (n.2656-1G>A)
c.2320-1G>A (n.2320-1G>A)
c.8738-1G>A (n.8738-1G>A)
c.2003-1G>A (n.2003-1G>A)
n.2259-1G>A
c.8918-1G>A (n.8918-1G>A)
c.8852-1G>A (n.8852-1G>A)
c.8915-1G>A (n.8915-1G>A)
c.8912-1G>A (n.8912-1G>A)
c.8858-1G>A (n.8858-1G>A)
c.8828-1G>A (n.8828-1G>A)
c.8783-1G>A (n.8783-1G>A)
c.8378-1G>A (n.8378-1G>A)
c.7736-1G>A (n.7736-1G>A)
c.5246-1G>A (n.5246-1G>A)
 COSMIC
10g.71809819G>CCA377133005CDH23c.8723-1G>C (n.8723-1G>C)
c.2656-1G>C (n.2656-1G>C)
c.2320-1G>C (n.2320-1G>C)
c.8738-1G>C (n.8738-1G>C)
c.2003-1G>C (n.2003-1G>C)
n.2259-1G>C
c.8918-1G>C (n.8918-1G>C)
c.8852-1G>C (n.8852-1G>C)
c.8915-1G>C (n.8915-1G>C)
c.8912-1G>C (n.8912-1G>C)
c.8858-1G>C (n.8858-1G>C)
c.8828-1G>C (n.8828-1G>C)
c.8783-1G>C (n.8783-1G>C)
c.8378-1G>C (n.8378-1G>C)
c.7736-1G>C (n.7736-1G>C)
c.5246-1G>C (n.5246-1G>C)
10g.71809819G>TCA377133006CDH23c.8723-1G>T (n.8723-1G>T)
c.2656-1G>T (n.2656-1G>T)
c.2320-1G>T (n.2320-1G>T)
c.8738-1G>T (n.8738-1G>T)
c.2003-1G>T (n.2003-1G>T)
n.2259-1G>T
c.8918-1G>T (n.8918-1G>T)
c.8852-1G>T (n.8852-1G>T)
c.8915-1G>T (n.8915-1G>T)
c.8912-1G>T (n.8912-1G>T)
c.8858-1G>T (n.8858-1G>T)
c.8828-1G>T (n.8828-1G>T)
c.8783-1G>T (n.8783-1G>T)
c.8378-1G>T (n.8378-1G>T)
c.7736-1G>T (n.7736-1G>T)
c.5246-1G>T (n.5246-1G>T)
10g.71809821delCA2609588419CDH23c.8724del
c.2657del
c.2321del
c.8739del
c.2004del
n.2260del
c.8919del
c.8853del
c.8916del
c.8913del
c.8859del
c.8829del
c.8784del
c.8379del
c.7737del
c.5247del
 gnomAD v4
10g.71809820G>ACA377133009CDH23c.8723G>A (p.Gly2908Glu)
c.2656G>A (n.2656G>A)
c.2320G>A (n.2320G>A)
c.8738G>A (p.Gly2913Glu)
c.2003G>A (p.Gly668Glu)
n.2259G>A
c.8918G>A (p.Gly2973Glu)
c.8852G>A (p.Gly2951Glu)
c.8915G>A (p.Gly2972Glu)
c.8912G>A (p.Gly2971Glu)
c.8858G>A (p.Gly2953Glu)
c.8828G>A (p.Gly2943Glu)
c.8783G>A (p.Gly2928Glu)
c.8378G>A (p.Gly2793Glu)
c.7736G>A (p.Gly2579Glu)
c.5246G>A (p.Gly1749Glu)
 dbSNP gnomAD v2 COSMIC
10g.71809820G>CCA377133008CDH23c.8723G>C (p.Gly2908Ala)
c.2656G>C (n.2656G>C)
c.2320G>C (n.2320G>C)
c.8738G>C (p.Gly2913Ala)
c.2003G>C (p.Gly668Ala)
n.2259G>C
c.8918G>C (p.Gly2973Ala)
c.8852G>C (p.Gly2951Ala)
c.8915G>C (p.Gly2972Ala)
c.8912G>C (p.Gly2971Ala)
c.8858G>C (p.Gly2953Ala)
c.8828G>C (p.Gly2943Ala)
c.8783G>C (p.Gly2928Ala)
c.8378G>C (p.Gly2793Ala)
c.7736G>C (p.Gly2579Ala)
c.5246G>C (p.Gly1749Ala)
 COSMIC
10g.71809820G=CA1918888988CDH23c.8723G= (p.Gly2908=)
c.2656G= (n.2656G=)
c.2320G= (n.2320G=)
c.8738G= (p.Gly2913=)
c.2003G= (p.Gly668=)
n.2259G=
c.8918G= (p.Gly2973=)
c.8852G= (p.Gly2951=)
c.8915G= (p.Gly2972=)
c.8912G= (p.Gly2971=)
c.8858G= (p.Gly2953=)
c.8828G= (p.Gly2943=)
c.8783G= (p.Gly2928=)
c.8378G= (p.Gly2793=)
c.7736G= (p.Gly2579=)
c.5246G= (p.Gly1749=)
10g.71809820G>TCA377133007CDH23c.8723G>T (p.Gly2908Val)
c.2656G>T (n.2656G>T)
c.2320G>T (n.2320G>T)
c.8738G>T (p.Gly2913Val)
c.2003G>T (p.Gly668Val)
n.2259G>T
c.8918G>T (p.Gly2973Val)
c.8852G>T (p.Gly2951Val)
c.8915G>T (p.Gly2972Val)
c.8912G>T (p.Gly2971Val)
c.8858G>T (p.Gly2953Val)
c.8828G>T (p.Gly2943Val)
c.8783G>T (p.Gly2928Val)
c.8378G>T (p.Gly2793Val)
c.7736G>T (p.Gly2579Val)
c.5246G>T (p.Gly1749Val)
10g.71809821G>ACA5546734CDH23c.8724G>A (p.Gly2908=)
c.2657G>A (n.2657G>A)
c.2321G>A (n.2321G>A)
c.8739G>A (p.Gly2913=)
c.2004G>A (p.Gly668=)
n.2260G>A
c.8919G>A (p.Gly2973=)
c.8853G>A (p.Gly2951=)
c.8916G>A (p.Gly2972=)
c.8913G>A (p.Gly2971=)
c.8859G>A (p.Gly2953=)
c.8829G>A (p.Gly2943=)
c.8784G>A (p.Gly2928=)
c.8379G>A (p.Gly2793=)
c.7737G>A (p.Gly2579=)
c.5247G>A (p.Gly1749=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809821G>CCA470282444CDH23c.8724G>C (p.Gly2908=)
c.2657G>C (n.2657G>C)
c.2321G>C (n.2321G>C)
c.8739G>C (p.Gly2913=)
c.2004G>C (p.Gly668=)
n.2260G>C
c.8919G>C (p.Gly2973=)
c.8853G>C (p.Gly2951=)
c.8916G>C (p.Gly2972=)
c.8913G>C (p.Gly2971=)
c.8859G>C (p.Gly2953=)
c.8829G>C (p.Gly2943=)
c.8784G>C (p.Gly2928=)
c.8379G>C (p.Gly2793=)
c.7737G>C (p.Gly2579=)
c.5247G>C (p.Gly1749=)
10g.71809821G=CA1918888990CDH23c.8724G= (p.Gly2908=)
c.2657G= (n.2657G=)
c.2321G= (n.2321G=)
c.8739G= (p.Gly2913=)
c.2004G= (p.Gly668=)
n.2260G=
c.8919G= (p.Gly2973=)
c.8853G= (p.Gly2951=)
c.8916G= (p.Gly2972=)
c.8913G= (p.Gly2971=)
c.8859G= (p.Gly2953=)
c.8829G= (p.Gly2943=)
c.8784G= (p.Gly2928=)
c.8379G= (p.Gly2793=)
c.7737G= (p.Gly2579=)
c.5247G= (p.Gly1749=)
10g.71809821G>TCA470282445CDH23c.8724G>T (p.Gly2908=)
c.2657G>T (n.2657G>T)
c.2321G>T (n.2321G>T)
c.8739G>T (p.Gly2913=)
c.2004G>T (p.Gly668=)
n.2260G>T
c.8919G>T (p.Gly2973=)
c.8853G>T (p.Gly2951=)
c.8916G>T (p.Gly2972=)
c.8913G>T (p.Gly2971=)
c.8859G>T (p.Gly2953=)
c.8829G>T (p.Gly2943=)
c.8784G>T (p.Gly2928=)
c.8379G>T (p.Gly2793=)
c.7737G>T (p.Gly2579=)
c.5247G>T (p.Gly1749=)
 gnomAD v4
10g.71809822A>CCA377133010CDH23c.8725A>C (p.Ser2909Arg)
c.2658A>C (n.2658A>C)
c.2322A>C (n.2322A>C)
c.8740A>C (p.Ser2914Arg)
c.2005A>C (p.Ser669Arg)
n.2261A>C
c.8920A>C (p.Ser2974Arg)
c.8854A>C (p.Ser2952Arg)
c.8917A>C (p.Ser2973Arg)
c.8914A>C (p.Ser2972Arg)
c.8860A>C (p.Ser2954Arg)
c.8830A>C (p.Ser2944Arg)
c.8785A>C (p.Ser2929Arg)
c.8380A>C (p.Ser2794Arg)
c.7738A>C (p.Ser2580Arg)
c.5248A>C (p.Ser1750Arg)
10g.71809822A>GCA377133011CDH23c.8725A>G (p.Ser2909Gly)
c.2658A>G (n.2658A>G)
c.2322A>G (n.2322A>G)
c.8740A>G (p.Ser2914Gly)
c.2005A>G (p.Ser669Gly)
n.2261A>G
c.8920A>G (p.Ser2974Gly)
c.8854A>G (p.Ser2952Gly)
c.8917A>G (p.Ser2973Gly)
c.8914A>G (p.Ser2972Gly)
c.8860A>G (p.Ser2954Gly)
c.8830A>G (p.Ser2944Gly)
c.8785A>G (p.Ser2929Gly)
c.8380A>G (p.Ser2794Gly)
c.7738A>G (p.Ser2580Gly)
c.5248A>G (p.Ser1750Gly)
10g.71809822A>TCA377133012CDH23c.8725A>T (p.Ser2909Cys)
c.2658A>T (n.2658A>T)
c.2322A>T (n.2322A>T)
c.8740A>T (p.Ser2914Cys)
c.2005A>T (p.Ser669Cys)
n.2261A>T
c.8920A>T (p.Ser2974Cys)
c.8854A>T (p.Ser2952Cys)
c.8917A>T (p.Ser2973Cys)
c.8914A>T (p.Ser2972Cys)
c.8860A>T (p.Ser2954Cys)
c.8830A>T (p.Ser2944Cys)
c.8785A>T (p.Ser2929Cys)
c.8380A>T (p.Ser2794Cys)
c.7738A>T (p.Ser2580Cys)
c.5248A>T (p.Ser1750Cys)
 gnomAD v4
10g.71809823G>ACA137603CDH23c.8726G>A (p.Ser2909Asn)
c.2659G>A (n.2659G>A)
c.2323G>A (n.2323G>A)
c.8741G>A (p.Ser2914Asn)
c.2006G>A (p.Ser669Asn)
n.2262G>A
c.8921G>A (p.Ser2974Asn)
c.8855G>A (p.Ser2952Asn)
c.8918G>A (p.Ser2973Asn)
c.8915G>A (p.Ser2972Asn)
c.8861G>A (p.Ser2954Asn)
c.8831G>A (p.Ser2944Asn)
c.8786G>A (p.Ser2929Asn)
c.8381G>A (p.Ser2794Asn)
c.7739G>A (p.Ser2580Asn)
c.5249G>A (p.Ser1750Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809823G>CCA377133013CDH23c.8726G>C (p.Ser2909Thr)
c.2659G>C (n.2659G>C)
c.2323G>C (n.2323G>C)
c.8741G>C (p.Ser2914Thr)
c.2006G>C (p.Ser669Thr)
n.2262G>C
c.8921G>C (p.Ser2974Thr)
c.8855G>C (p.Ser2952Thr)
c.8918G>C (p.Ser2973Thr)
c.8915G>C (p.Ser2972Thr)
c.8861G>C (p.Ser2954Thr)
c.8831G>C (p.Ser2944Thr)
c.8786G>C (p.Ser2929Thr)
c.8381G>C (p.Ser2794Thr)
c.7739G>C (p.Ser2580Thr)
c.5249G>C (p.Ser1750Thr)
10g.71809823G=CA1918888992CDH23c.8726G= (p.Ser2909=)
c.2659G= (n.2659G=)
c.2323G= (n.2323G=)
c.8741G= (p.Ser2914=)
c.2006G= (p.Ser669=)
n.2262G=
c.8921G= (p.Ser2974=)
c.8855G= (p.Ser2952=)
c.8918G= (p.Ser2973=)
c.8915G= (p.Ser2972=)
c.8861G= (p.Ser2954=)
c.8831G= (p.Ser2944=)
c.8786G= (p.Ser2929=)
c.8381G= (p.Ser2794=)
c.7739G= (p.Ser2580=)
c.5249G= (p.Ser1750=)
10g.71809823G>TCA377133014CDH23c.8726G>T (p.Ser2909Ile)
c.2659G>T (n.2659G>T)
c.2323G>T (n.2323G>T)
c.8741G>T (p.Ser2914Ile)
c.2006G>T (p.Ser669Ile)
n.2262G>T
c.8921G>T (p.Ser2974Ile)
c.8855G>T (p.Ser2952Ile)
c.8918G>T (p.Ser2973Ile)
c.8915G>T (p.Ser2972Ile)
c.8861G>T (p.Ser2954Ile)
c.8831G>T (p.Ser2944Ile)
c.8786G>T (p.Ser2929Ile)
c.8381G>T (p.Ser2794Ile)
c.7739G>T (p.Ser2580Ile)
c.5249G>T (p.Ser1750Ile)
 gnomAD v4
10g.71809824C>ACA377133016CDH23c.8727C>A (p.Ser2909Arg)
c.2660C>A (n.2660C>A)
c.2324C>A (n.2324C>A)
c.8742C>A (p.Ser2914Arg)
c.2007C>A (p.Ser669Arg)
n.2263C>A
c.8922C>A (p.Ser2974Arg)
c.8856C>A (p.Ser2952Arg)
c.8919C>A (p.Ser2973Arg)
c.8916C>A (p.Ser2972Arg)
c.8862C>A (p.Ser2954Arg)
c.8832C>A (p.Ser2944Arg)
c.8787C>A (p.Ser2929Arg)
c.8382C>A (p.Ser2794Arg)
c.7740C>A (p.Ser2580Arg)
c.5250C>A (p.Ser1750Arg)
10g.71809824C>GCA377133015CDH23c.8727C>G (p.Ser2909Arg)
c.2660C>G (n.2660C>G)
c.2324C>G (n.2324C>G)
c.8742C>G (p.Ser2914Arg)
c.2007C>G (p.Ser669Arg)
n.2263C>G
c.8922C>G (p.Ser2974Arg)
c.8856C>G (p.Ser2952Arg)
c.8919C>G (p.Ser2973Arg)
c.8916C>G (p.Ser2972Arg)
c.8862C>G (p.Ser2954Arg)
c.8832C>G (p.Ser2944Arg)
c.8787C>G (p.Ser2929Arg)
c.8382C>G (p.Ser2794Arg)
c.7740C>G (p.Ser2580Arg)
c.5250C>G (p.Ser1750Arg)
10g.71809824C>TCA470282447CDH23c.8727C>T (p.Ser2909=)
c.2660C>T (n.2660C>T)
c.2324C>T (n.2324C>T)
c.8742C>T (p.Ser2914=)
c.2007C>T (p.Ser669=)
n.2263C>T
c.8922C>T (p.Ser2974=)
c.8856C>T (p.Ser2952=)
c.8919C>T (p.Ser2973=)
c.8916C>T (p.Ser2972=)
c.8862C>T (p.Ser2954=)
c.8832C>T (p.Ser2944=)
c.8787C>T (p.Ser2929=)
c.8382C>T (p.Ser2794=)
c.7740C>T (p.Ser2580=)
c.5250C>T (p.Ser1750=)
 ClinVar gnomAD v4
10g.71809825A>CCA377133017CDH23c.8728A>C (p.Met2910Leu)
c.2661A>C (n.2661A>C)
c.2325A>C (n.2325A>C)
c.8743A>C (p.Met2915Leu)
c.2008A>C (p.Met670Leu)
n.2264A>C
c.8923A>C (p.Met2975Leu)
c.8857A>C (p.Met2953Leu)
c.8920A>C (p.Met2974Leu)
c.8917A>C (p.Met2973Leu)
c.8863A>C (p.Met2955Leu)
c.8833A>C (p.Met2945Leu)
c.8788A>C (p.Met2930Leu)
c.8383A>C (p.Met2795Leu)
c.7741A>C (p.Met2581Leu)
c.5251A>C (p.Met1751Leu)
10g.71809825A>GCA377133018CDH23c.8728A>G (p.Met2910Val)
c.2661A>G (n.2661A>G)
c.2325A>G (n.2325A>G)
c.8743A>G (p.Met2915Val)
c.2008A>G (p.Met670Val)
n.2264A>G
c.8923A>G (p.Met2975Val)
c.8857A>G (p.Met2953Val)
c.8920A>G (p.Met2974Val)
c.8917A>G (p.Met2973Val)
c.8863A>G (p.Met2955Val)
c.8833A>G (p.Met2945Val)
c.8788A>G (p.Met2930Val)
c.8383A>G (p.Met2795Val)
c.7741A>G (p.Met2581Val)
c.5251A>G (p.Met1751Val)
10g.71809825A>TCA377133019CDH23c.8728A>T (p.Met2910Leu)
c.2661A>T (n.2661A>T)
c.2325A>T (n.2325A>T)
c.8743A>T (p.Met2915Leu)
c.2008A>T (p.Met670Leu)
n.2264A>T
c.8923A>T (p.Met2975Leu)
c.8857A>T (p.Met2953Leu)
c.8920A>T (p.Met2974Leu)
c.8917A>T (p.Met2973Leu)
c.8863A>T (p.Met2955Leu)
c.8833A>T (p.Met2945Leu)
c.8788A>T (p.Met2930Leu)
c.8383A>T (p.Met2795Leu)
c.7741A>T (p.Met2581Leu)
c.5251A>T (p.Met1751Leu)
10g.71809826T>ACA377133020CDH23c.8729T>A (p.Met2910Lys)
c.2662T>A (n.2662T>A)
c.2326T>A (n.2326T>A)
c.8744T>A (p.Met2915Lys)
c.2009T>A (p.Met670Lys)
n.2265T>A
c.8924T>A (p.Met2975Lys)
c.8858T>A (p.Met2953Lys)
c.8921T>A (p.Met2974Lys)
c.8918T>A (p.Met2973Lys)
c.8864T>A (p.Met2955Lys)
c.8834T>A (p.Met2945Lys)
c.8789T>A (p.Met2930Lys)
c.8384T>A (p.Met2795Lys)
c.7742T>A (p.Met2581Lys)
c.5252T>A (p.Met1751Lys)
10g.71809826T>CCA5546735CDH23c.8729T>C (p.Met2910Thr)
c.2662T>C (n.2662T>C)
c.2326T>C (n.2326T>C)
c.8744T>C (p.Met2915Thr)
c.2009T>C (p.Met670Thr)
n.2265T>C
c.8924T>C (p.Met2975Thr)
c.8858T>C (p.Met2953Thr)
c.8921T>C (p.Met2974Thr)
c.8918T>C (p.Met2973Thr)
c.8864T>C (p.Met2955Thr)
c.8834T>C (p.Met2945Thr)
c.8789T>C (p.Met2930Thr)
c.8384T>C (p.Met2795Thr)
c.7742T>C (p.Met2581Thr)
c.5252T>C (p.Met1751Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809826T>GCA377133021CDH23c.8729T>G (p.Met2910Arg)
c.2662T>G (n.2662T>G)
c.2326T>G (n.2326T>G)
c.8744T>G (p.Met2915Arg)
c.2009T>G (p.Met670Arg)
n.2265T>G
c.8924T>G (p.Met2975Arg)
c.8858T>G (p.Met2953Arg)
c.8921T>G (p.Met2974Arg)
c.8918T>G (p.Met2973Arg)
c.8864T>G (p.Met2955Arg)
c.8834T>G (p.Met2945Arg)
c.8789T>G (p.Met2930Arg)
c.8384T>G (p.Met2795Arg)
c.7742T>G (p.Met2581Arg)
c.5252T>G (p.Met1751Arg)
 gnomAD v3 gnomAD v4
10g.71809826T=CA1918888995CDH23c.8729T= (p.Met2910=)
c.2662T= (n.2662T=)
c.2326T= (n.2326T=)
c.8744T= (p.Met2915=)
c.2009T= (p.Met670=)
n.2265T=
c.8924T= (p.Met2975=)
c.8858T= (p.Met2953=)
c.8921T= (p.Met2974=)
c.8918T= (p.Met2973=)
c.8864T= (p.Met2955=)
c.8834T= (p.Met2945=)
c.8789T= (p.Met2930=)
c.8384T= (p.Met2795=)
c.7742T= (p.Met2581=)
c.5252T= (p.Met1751=)
10g.71809827G>ACA5546736CDH23c.8730G>A (p.Met2910Ile)
c.2663G>A (n.2663G>A)
c.2327G>A (n.2327G>A)
c.8745G>A (p.Met2915Ile)
c.2010G>A (p.Met670Ile)
n.2266G>A
c.8925G>A (p.Met2975Ile)
c.8859G>A (p.Met2953Ile)
c.8922G>A (p.Met2974Ile)
c.8919G>A (p.Met2973Ile)
c.8865G>A (p.Met2955Ile)
c.8835G>A (p.Met2945Ile)
c.8790G>A (p.Met2930Ile)
c.8385G>A (p.Met2795Ile)
c.7743G>A (p.Met2581Ile)
c.5253G>A (p.Met1751Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809827G>CCA377133023CDH23c.8730G>C (p.Met2910Ile)
c.2663G>C (n.2663G>C)
c.2327G>C (n.2327G>C)
c.8745G>C (p.Met2915Ile)
c.2010G>C (p.Met670Ile)
n.2266G>C
c.8925G>C (p.Met2975Ile)
c.8859G>C (p.Met2953Ile)
c.8922G>C (p.Met2974Ile)
c.8919G>C (p.Met2973Ile)
c.8865G>C (p.Met2955Ile)
c.8835G>C (p.Met2945Ile)
c.8790G>C (p.Met2930Ile)
c.8385G>C (p.Met2795Ile)
c.7743G>C (p.Met2581Ile)
c.5253G>C (p.Met1751Ile)
10g.71809827G=CA1918888997CDH23c.8730G= (p.Met2910=)
c.2663G= (n.2663G=)
c.2327G= (n.2327G=)
c.8745G= (p.Met2915=)
c.2010G= (p.Met670=)
n.2266G=
c.8925G= (p.Met2975=)
c.8859G= (p.Met2953=)
c.8922G= (p.Met2974=)
c.8919G= (p.Met2973=)
c.8865G= (p.Met2955=)
c.8835G= (p.Met2945=)
c.8790G= (p.Met2930=)
c.8385G= (p.Met2795=)
c.7743G= (p.Met2581=)
c.5253G= (p.Met1751=)
10g.71809827G>TCA377133022CDH23c.8730G>T (p.Met2910Ile)
c.2663G>T (n.2663G>T)
c.2327G>T (n.2327G>T)
c.8745G>T (p.Met2915Ile)
c.2010G>T (p.Met670Ile)
n.2266G>T
c.8925G>T (p.Met2975Ile)
c.8859G>T (p.Met2953Ile)
c.8922G>T (p.Met2974Ile)
c.8919G>T (p.Met2973Ile)
c.8865G>T (p.Met2955Ile)
c.8835G>T (p.Met2945Ile)
c.8790G>T (p.Met2930Ile)
c.8385G>T (p.Met2795Ile)
c.7743G>T (p.Met2581Ile)
c.5253G>T (p.Met1751Ile)
 gnomAD v4
10g.71809828G>ACA377133024CDH23c.8731G>A (p.Asp2911Asn)
c.2664G>A (n.2664G>A)
c.2328G>A (n.2328G>A)
c.8746G>A (p.Asp2916Asn)
c.2011G>A (p.Asp671Asn)
n.2267G>A
c.8926G>A (p.Asp2976Asn)
c.8860G>A (p.Asp2954Asn)
c.8923G>A (p.Asp2975Asn)
c.8920G>A (p.Asp2974Asn)
c.8866G>A (p.Asp2956Asn)
c.8836G>A (p.Asp2946Asn)
c.8791G>A (p.Asp2931Asn)
c.8386G>A (p.Asp2796Asn)
c.7744G>A (p.Asp2582Asn)
c.5254G>A (p.Asp1752Asn)
10g.71809828G>CCA377133025CDH23c.8731G>C (p.Asp2911His)
c.2664G>C (n.2664G>C)
c.2328G>C (n.2328G>C)
c.8746G>C (p.Asp2916His)
c.2011G>C (p.Asp671His)
n.2267G>C
c.8926G>C (p.Asp2976His)
c.8860G>C (p.Asp2954His)
c.8923G>C (p.Asp2975His)
c.8920G>C (p.Asp2974His)
c.8866G>C (p.Asp2956His)
c.8836G>C (p.Asp2946His)
c.8791G>C (p.Asp2931His)
c.8386G>C (p.Asp2796His)
c.7744G>C (p.Asp2582His)
c.5254G>C (p.Asp1752His)
 gnomAD v4
10g.71809828G=CA1918888998CDH23c.8731G= (p.Asp2911=)
c.2664G= (n.2664G=)
c.2328G= (n.2328G=)
c.8746G= (p.Asp2916=)
c.2011G= (p.Asp671=)
n.2267G=
c.8926G= (p.Asp2976=)
c.8860G= (p.Asp2954=)
c.8923G= (p.Asp2975=)
c.8920G= (p.Asp2974=)
c.8866G= (p.Asp2956=)
c.8836G= (p.Asp2946=)
c.8791G= (p.Asp2931=)
c.8386G= (p.Asp2796=)
c.7744G= (p.Asp2582=)
c.5254G= (p.Asp1752=)
10g.71809828G>TCA377133026CDH23c.8731G>T (p.Asp2911Tyr)
c.2664G>T (n.2664G>T)
c.2328G>T (n.2328G>T)
c.8746G>T (p.Asp2916Tyr)
c.2011G>T (p.Asp671Tyr)
n.2267G>T
c.8926G>T (p.Asp2976Tyr)
c.8860G>T (p.Asp2954Tyr)
c.8923G>T (p.Asp2975Tyr)
c.8920G>T (p.Asp2974Tyr)
c.8866G>T (p.Asp2956Tyr)
c.8836G>T (p.Asp2946Tyr)
c.8791G>T (p.Asp2931Tyr)
c.8386G>T (p.Asp2796Tyr)
c.7744G>T (p.Asp2582Tyr)
c.5254G>T (p.Asp1752Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.71809829A>CCA377133027CDH23c.8732A>C (p.Asp2911Ala)
c.2665A>C (n.2665A>C)
c.2329A>C (n.2329A>C)
c.8747A>C (p.Asp2916Ala)
c.2012A>C (p.Asp671Ala)
n.2268A>C
c.8927A>C (p.Asp2976Ala)
c.8861A>C (p.Asp2954Ala)
c.8924A>C (p.Asp2975Ala)
c.8921A>C (p.Asp2974Ala)
c.8867A>C (p.Asp2956Ala)
c.8837A>C (p.Asp2946Ala)
c.8792A>C (p.Asp2931Ala)
c.8387A>C (p.Asp2796Ala)
c.7745A>C (p.Asp2582Ala)
c.5255A>C (p.Asp1752Ala)
 gnomAD v4
10g.71809829A>GCA377133028CDH23c.8732A>G (p.Asp2911Gly)
c.2665A>G (n.2665A>G)
c.2329A>G (n.2329A>G)
c.8747A>G (p.Asp2916Gly)
c.2012A>G (p.Asp671Gly)
n.2268A>G
c.8927A>G (p.Asp2976Gly)
c.8861A>G (p.Asp2954Gly)
c.8924A>G (p.Asp2975Gly)
c.8921A>G (p.Asp2974Gly)
c.8867A>G (p.Asp2956Gly)
c.8837A>G (p.Asp2946Gly)
c.8792A>G (p.Asp2931Gly)
c.8387A>G (p.Asp2796Gly)
c.7745A>G (p.Asp2582Gly)
c.5255A>G (p.Asp1752Gly)
10g.71809829A>TCA377133029CDH23c.8732A>T (p.Asp2911Val)
c.2665A>T (n.2665A>T)
c.2329A>T (n.2329A>T)
c.8747A>T (p.Asp2916Val)
c.2012A>T (p.Asp671Val)
n.2268A>T
c.8927A>T (p.Asp2976Val)
c.8861A>T (p.Asp2954Val)
c.8924A>T (p.Asp2975Val)
c.8921A>T (p.Asp2974Val)
c.8867A>T (p.Asp2956Val)
c.8837A>T (p.Asp2946Val)
c.8792A>T (p.Asp2931Val)
c.8387A>T (p.Asp2796Val)
c.7745A>T (p.Asp2582Val)
c.5255A>T (p.Asp1752Val)
10g.71809830delCA2739291343CDH23c.8733del (p.Asp2911GlufsTer?)
c.2666del (n.2666del)
c.2330del (n.2330del)
c.8748del (p.Asp2916GlufsTer?)
c.2013del (p.Asp671GlufsTer?)
n.2269del
c.8928del (p.Asp2976GlufsTer?)
c.8862del (p.Asp2954GlufsTer?)
c.8925del (p.Asp2975GlufsTer?)
c.8922del (p.Asp2974GlufsTer?)
c.8868del (p.Asp2956GlufsTer?)
c.8838del (p.Asp2946GlufsTer?)
c.8793del (p.Asp2931GlufsTer?)
c.8388del (p.Asp2796GlufsTer?)
c.7746del (p.Asp2582GlufsTer?)
c.5256del (p.Asp1752GlufsTer?)
10g.71809830C>ACA377133030CDH23c.8733C>A (p.Asp2911Glu)
c.2666C>A (n.2666C>A)
c.2330C>A (n.2330C>A)
c.8748C>A (p.Asp2916Glu)
c.2013C>A (p.Asp671Glu)
n.2269C>A
c.8928C>A (p.Asp2976Glu)
c.8862C>A (p.Asp2954Glu)
c.8925C>A (p.Asp2975Glu)
c.8922C>A (p.Asp2974Glu)
c.8868C>A (p.Asp2956Glu)
c.8838C>A (p.Asp2946Glu)
c.8793C>A (p.Asp2931Glu)
c.8388C>A (p.Asp2796Glu)
c.7746C>A (p.Asp2582Glu)
c.5256C>A (p.Asp1752Glu)
10g.71809830C=CA1918889000CDH23c.8733C= (p.Asp2911=)
c.2666C= (n.2666C=)
c.2330C= (n.2330C=)
c.8748C= (p.Asp2916=)
c.2013C= (p.Asp671=)
n.2269C=
c.8928C= (p.Asp2976=)
c.8862C= (p.Asp2954=)
c.8925C= (p.Asp2975=)
c.8922C= (p.Asp2974=)
c.8868C= (p.Asp2956=)
c.8838C= (p.Asp2946=)
c.8793C= (p.Asp2931=)
c.8388C= (p.Asp2796=)
c.7746C= (p.Asp2582=)
c.5256C= (p.Asp1752=)
10g.71809830C>GCA377133031CDH23c.8733C>G (p.Asp2911Glu)
c.2666C>G (n.2666C>G)
c.2330C>G (n.2330C>G)
c.8748C>G (p.Asp2916Glu)
c.2013C>G (p.Asp671Glu)
n.2269C>G
c.8928C>G (p.Asp2976Glu)
c.8862C>G (p.Asp2954Glu)
c.8925C>G (p.Asp2975Glu)
c.8922C>G (p.Asp2974Glu)
c.8868C>G (p.Asp2956Glu)
c.8838C>G (p.Asp2946Glu)
c.8793C>G (p.Asp2931Glu)
c.8388C>G (p.Asp2796Glu)
c.7746C>G (p.Asp2582Glu)
c.5256C>G (p.Asp1752Glu)
10g.71809830C>TCA5546737CDH23c.8733C>T (p.Asp2911=)
c.2666C>T (n.2666C>T)
c.2330C>T (n.2330C>T)
c.8748C>T (p.Asp2916=)
c.2013C>T (p.Asp671=)
n.2269C>T
c.8928C>T (p.Asp2976=)
c.8862C>T (p.Asp2954=)
c.8925C>T (p.Asp2975=)
c.8922C>T (p.Asp2974=)
c.8868C>T (p.Asp2956=)
c.8838C>T (p.Asp2946=)
c.8793C>T (p.Asp2931=)
c.8388C>T (p.Asp2796=)
c.7746C>T (p.Asp2582=)
c.5256C>T (p.Asp1752=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809831G>ACA377133032CDH23c.8734G>A (p.Gly2912Ser)
c.2667G>A (n.2667G>A)
c.2331G>A (n.2331G>A)
c.8749G>A (p.Gly2917Ser)
c.2014G>A (p.Gly672Ser)
n.2270G>A
c.8929G>A (p.Gly2977Ser)
c.8863G>A (p.Gly2955Ser)
c.8926G>A (p.Gly2976Ser)
c.8923G>A (p.Gly2975Ser)
c.8869G>A (p.Gly2957Ser)
c.8839G>A (p.Gly2947Ser)
c.8794G>A (p.Gly2932Ser)
c.8389G>A (p.Gly2797Ser)
c.7747G>A (p.Gly2583Ser)
c.5257G>A (p.Gly1753Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809831G>CCA377133033CDH23c.8734G>C (p.Gly2912Arg)
c.2667G>C (n.2667G>C)
c.2331G>C (n.2331G>C)
c.8749G>C (p.Gly2917Arg)
c.2014G>C (p.Gly672Arg)
n.2270G>C
c.8929G>C (p.Gly2977Arg)
c.8863G>C (p.Gly2955Arg)
c.8926G>C (p.Gly2976Arg)
c.8923G>C (p.Gly2975Arg)
c.8869G>C (p.Gly2957Arg)
c.8839G>C (p.Gly2947Arg)
c.8794G>C (p.Gly2932Arg)
c.8389G>C (p.Gly2797Arg)
c.7747G>C (p.Gly2583Arg)
c.5257G>C (p.Gly1753Arg)
 dbSNP
10g.71809831G=CA1918889001CDH23c.8734G= (p.Gly2912=)
c.2667G= (n.2667G=)
c.2331G= (n.2331G=)
c.8749G= (p.Gly2917=)
c.2014G= (p.Gly672=)
n.2270G=
c.8929G= (p.Gly2977=)
c.8863G= (p.Gly2955=)
c.8926G= (p.Gly2976=)
c.8923G= (p.Gly2975=)
c.8869G= (p.Gly2957=)
c.8839G= (p.Gly2947=)
c.8794G= (p.Gly2932=)
c.8389G= (p.Gly2797=)
c.7747G= (p.Gly2583=)
c.5257G= (p.Gly1753=)
10g.71809831G>TCA377133034CDH23c.8734G>T (p.Gly2912Cys)
c.2667G>T (n.2667G>T)
c.2331G>T (n.2331G>T)
c.8749G>T (p.Gly2917Cys)
c.2014G>T (p.Gly672Cys)
n.2270G>T
c.8929G>T (p.Gly2977Cys)
c.8863G>T (p.Gly2955Cys)
c.8926G>T (p.Gly2976Cys)
c.8923G>T (p.Gly2975Cys)
c.8869G>T (p.Gly2957Cys)
c.8839G>T (p.Gly2947Cys)
c.8794G>T (p.Gly2932Cys)
c.8389G>T (p.Gly2797Cys)
c.7747G>T (p.Gly2583Cys)
c.5257G>T (p.Gly1753Cys)
10g.71809832G>ACA377133035CDH23c.8735G>A (p.Gly2912Asp)
c.2668G>A (n.2668G>A)
c.2332G>A (n.2332G>A)
c.8750G>A (p.Gly2917Asp)
c.2015G>A (p.Gly672Asp)
n.2271G>A
c.8930G>A (p.Gly2977Asp)
c.8864G>A (p.Gly2955Asp)
c.8927G>A (p.Gly2976Asp)
c.8924G>A (p.Gly2975Asp)
c.8870G>A (p.Gly2957Asp)
c.8840G>A (p.Gly2947Asp)
c.8795G>A (p.Gly2932Asp)
c.8390G>A (p.Gly2797Asp)
c.7748G>A (p.Gly2583Asp)
c.5258G>A (p.Gly1753Asp)
 gnomAD v4
10g.71809832G>CCA377133037CDH23c.8735G>C (p.Gly2912Ala)
c.2668G>C (n.2668G>C)
c.2332G>C (n.2332G>C)
c.8750G>C (p.Gly2917Ala)
c.2015G>C (p.Gly672Ala)
n.2271G>C
c.8930G>C (p.Gly2977Ala)
c.8864G>C (p.Gly2955Ala)
c.8927G>C (p.Gly2976Ala)
c.8924G>C (p.Gly2975Ala)
c.8870G>C (p.Gly2957Ala)
c.8840G>C (p.Gly2947Ala)
c.8795G>C (p.Gly2932Ala)
c.8390G>C (p.Gly2797Ala)
c.7748G>C (p.Gly2583Ala)
c.5258G>C (p.Gly1753Ala)
10g.71809832G>TCA377133036CDH23c.8735G>T (p.Gly2912Val)
c.2668G>T (n.2668G>T)
c.2332G>T (n.2332G>T)
c.8750G>T (p.Gly2917Val)
c.2015G>T (p.Gly672Val)
n.2271G>T
c.8930G>T (p.Gly2977Val)
c.8864G>T (p.Gly2955Val)
c.8927G>T (p.Gly2976Val)
c.8924G>T (p.Gly2975Val)
c.8870G>T (p.Gly2957Val)
c.8840G>T (p.Gly2947Val)
c.8795G>T (p.Gly2932Val)
c.8390G>T (p.Gly2797Val)
c.7748G>T (p.Gly2583Val)
c.5258G>T (p.Gly1753Val)
10g.71809833C>ACA470282456CDH23c.8736C>A (p.Gly2912=)
c.2669C>A (n.2669C>A)
c.2333C>A (n.2333C>A)
c.8751C>A (p.Gly2917=)
c.2016C>A (p.Gly672=)
n.2272C>A
c.8931C>A (p.Gly2977=)
c.8865C>A (p.Gly2955=)
c.8928C>A (p.Gly2976=)
c.8925C>A (p.Gly2975=)
c.8871C>A (p.Gly2957=)
c.8841C>A (p.Gly2947=)
c.8796C>A (p.Gly2932=)
c.8391C>A (p.Gly2797=)
c.7749C>A (p.Gly2583=)
c.5259C>A (p.Gly1753=)
10g.71809833C=CA1918889003CDH23c.8736C= (p.Gly2912=)
c.2669C= (n.2669C=)
c.2333C= (n.2333C=)
c.8751C= (p.Gly2917=)
c.2016C= (p.Gly672=)
n.2272C=
c.8931C= (p.Gly2977=)
c.8865C= (p.Gly2955=)
c.8928C= (p.Gly2976=)
c.8925C= (p.Gly2975=)
c.8871C= (p.Gly2957=)
c.8841C= (p.Gly2947=)
c.8796C= (p.Gly2932=)
c.8391C= (p.Gly2797=)
c.7749C= (p.Gly2583=)
c.5259C= (p.Gly1753=)
10g.71809833C>GCA470282458CDH23c.8736C>G (p.Gly2912=)
c.2669C>G (n.2669C>G)
c.2333C>G (n.2333C>G)
c.8751C>G (p.Gly2917=)
c.2016C>G (p.Gly672=)
n.2272C>G
c.8931C>G (p.Gly2977=)
c.8865C>G (p.Gly2955=)
c.8928C>G (p.Gly2976=)
c.8925C>G (p.Gly2975=)
c.8871C>G (p.Gly2957=)
c.8841C>G (p.Gly2947=)
c.8796C>G (p.Gly2932=)
c.8391C>G (p.Gly2797=)
c.7749C>G (p.Gly2583=)
c.5259C>G (p.Gly1753=)
10g.71809833C>TCA470282457CDH23c.8736C>T (p.Gly2912=)
c.2669C>T (n.2669C>T)
c.2333C>T (n.2333C>T)
c.8751C>T (p.Gly2917=)
c.2016C>T (p.Gly672=)
n.2272C>T
c.8931C>T (p.Gly2977=)
c.8865C>T (p.Gly2955=)
c.8928C>T (p.Gly2976=)
c.8925C>T (p.Gly2975=)
c.8871C>T (p.Gly2957=)
c.8841C>T (p.Gly2947=)
c.8796C>T (p.Gly2932=)
c.8391C>T (p.Gly2797=)
c.7749C>T (p.Gly2583=)
c.5259C>T (p.Gly1753=)
 dbSNP gnomAD v4
10g.71809834A=CA1918889005CDH23c.8737A= (p.Ile2913=)
c.2670A= (n.2670A=)
c.2334A= (n.2334A=)
c.8752A= (p.Ile2918=)
c.2017A= (p.Ile673=)
n.2273A=
c.8932A= (p.Ile2978=)
c.8866A= (p.Ile2956=)
c.8929A= (p.Ile2977=)
c.8926A= (p.Ile2976=)
c.8872A= (p.Ile2958=)
c.8842A= (p.Ile2948=)
c.8797A= (p.Ile2933=)
c.8392A= (p.Ile2798=)
c.7750A= (p.Ile2584=)
c.5260A= (p.Ile1754=)
10g.71809834A>CCA377133038CDH23c.8737A>C (p.Ile2913Leu)
c.2670A>C (n.2670A>C)
c.2334A>C (n.2334A>C)
c.8752A>C (p.Ile2918Leu)
c.2017A>C (p.Ile673Leu)
n.2273A>C
c.8932A>C (p.Ile2978Leu)
c.8866A>C (p.Ile2956Leu)
c.8929A>C (p.Ile2977Leu)
c.8926A>C (p.Ile2976Leu)
c.8872A>C (p.Ile2958Leu)
c.8842A>C (p.Ile2948Leu)
c.8797A>C (p.Ile2933Leu)
c.8392A>C (p.Ile2798Leu)
c.7750A>C (p.Ile2584Leu)
c.5260A>C (p.Ile1754Leu)
 ClinVar dbSNP gnomAD v4
10g.71809834A>GCA377133039CDH23c.8737A>G (p.Ile2913Val)
c.2670A>G (n.2670A>G)
c.2334A>G (n.2334A>G)
c.8752A>G (p.Ile2918Val)
c.2017A>G (p.Ile673Val)
n.2273A>G
c.8932A>G (p.Ile2978Val)
c.8866A>G (p.Ile2956Val)
c.8929A>G (p.Ile2977Val)
c.8926A>G (p.Ile2976Val)
c.8872A>G (p.Ile2958Val)
c.8842A>G (p.Ile2948Val)
c.8797A>G (p.Ile2933Val)
c.8392A>G (p.Ile2798Val)
c.7750A>G (p.Ile2584Val)
c.5260A>G (p.Ile1754Val)
10g.71809834A>TCA209439031CDH23c.8737A>T (p.Ile2913Phe)
c.2670A>T (n.2670A>T)
c.2334A>T (n.2334A>T)
c.8752A>T (p.Ile2918Phe)
c.2017A>T (p.Ile673Phe)
n.2273A>T
c.8932A>T (p.Ile2978Phe)
c.8866A>T (p.Ile2956Phe)
c.8929A>T (p.Ile2977Phe)
c.8926A>T (p.Ile2976Phe)
c.8872A>T (p.Ile2958Phe)
c.8842A>T (p.Ile2948Phe)
c.8797A>T (p.Ile2933Phe)
c.8392A>T (p.Ile2798Phe)
c.7750A>T (p.Ile2584Phe)
c.5260A>T (p.Ile1754Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809835T>ACA377133040CDH23c.8738T>A (p.Ile2913Asn)
c.2671T>A (n.2671T>A)
c.2335T>A (n.2335T>A)
c.8753T>A (p.Ile2918Asn)
c.2018T>A (p.Ile673Asn)
n.2274T>A
c.8933T>A (p.Ile2978Asn)
c.8867T>A (p.Ile2956Asn)
c.8930T>A (p.Ile2977Asn)
c.8927T>A (p.Ile2976Asn)
c.8873T>A (p.Ile2958Asn)
c.8843T>A (p.Ile2948Asn)
c.8798T>A (p.Ile2933Asn)
c.8393T>A (p.Ile2798Asn)
c.7751T>A (p.Ile2584Asn)
c.5261T>A (p.Ile1754Asn)
10g.71809835T>CCA377133041CDH23c.8738T>C (p.Ile2913Thr)
c.2671T>C (n.2671T>C)
c.2335T>C (n.2335T>C)
c.8753T>C (p.Ile2918Thr)
c.2018T>C (p.Ile673Thr)
n.2274T>C
c.8933T>C (p.Ile2978Thr)
c.8867T>C (p.Ile2956Thr)
c.8930T>C (p.Ile2977Thr)
c.8927T>C (p.Ile2976Thr)
c.8873T>C (p.Ile2958Thr)
c.8843T>C (p.Ile2948Thr)
c.8798T>C (p.Ile2933Thr)
c.8393T>C (p.Ile2798Thr)
c.7751T>C (p.Ile2584Thr)
c.5261T>C (p.Ile1754Thr)
10g.71809835T>GCA377133042CDH23c.8738T>G (p.Ile2913Ser)
c.2671T>G (n.2671T>G)
c.2335T>G (n.2335T>G)
c.8753T>G (p.Ile2918Ser)
c.2018T>G (p.Ile673Ser)
n.2274T>G
c.8933T>G (p.Ile2978Ser)
c.8867T>G (p.Ile2956Ser)
c.8930T>G (p.Ile2977Ser)
c.8927T>G (p.Ile2976Ser)
c.8873T>G (p.Ile2958Ser)
c.8843T>G (p.Ile2948Ser)
c.8798T>G (p.Ile2933Ser)
c.8393T>G (p.Ile2798Ser)
c.7751T>G (p.Ile2584Ser)
c.5261T>G (p.Ile1754Ser)
10g.71809836T>ACA470282459CDH23c.8739T>A (p.Ile2913=)
c.2672T>A (n.2672T>A)
c.2336T>A (n.2336T>A)
c.8754T>A (p.Ile2918=)
c.2019T>A (p.Ile673=)
n.2275T>A
c.8934T>A (p.Ile2978=)
c.8868T>A (p.Ile2956=)
c.8931T>A (p.Ile2977=)
c.8928T>A (p.Ile2976=)
c.8874T>A (p.Ile2958=)
c.8844T>A (p.Ile2948=)
c.8799T>A (p.Ile2933=)
c.8394T>A (p.Ile2798=)
c.7752T>A (p.Ile2584=)
c.5262T>A (p.Ile1754=)
10g.71809836T>CCA470282461CDH23c.8739T>C (p.Ile2913=)
c.2672T>C (n.2672T>C)
c.2336T>C (n.2336T>C)
c.8754T>C (p.Ile2918=)
c.2019T>C (p.Ile673=)
n.2275T>C
c.8934T>C (p.Ile2978=)
c.8868T>C (p.Ile2956=)
c.8931T>C (p.Ile2977=)
c.8928T>C (p.Ile2976=)
c.8874T>C (p.Ile2958=)
c.8844T>C (p.Ile2948=)
c.8799T>C (p.Ile2933=)
c.8394T>C (p.Ile2798=)
c.7752T>C (p.Ile2584=)
c.5262T>C (p.Ile1754=)
10g.71809836T>GCA377133043CDH23c.8739T>G (p.Ile2913Met)
c.2672T>G (n.2672T>G)
c.2336T>G (n.2336T>G)
c.8754T>G (p.Ile2918Met)
c.2019T>G (p.Ile673Met)
n.2275T>G
c.8934T>G (p.Ile2978Met)
c.8868T>G (p.Ile2956Met)
c.8931T>G (p.Ile2977Met)
c.8928T>G (p.Ile2976Met)
c.8874T>G (p.Ile2958Met)
c.8844T>G (p.Ile2948Met)
c.8799T>G (p.Ile2933Met)
c.8394T>G (p.Ile2798Met)
c.7752T>G (p.Ile2584Met)
c.5262T>G (p.Ile1754Met)
10g.71809837C>ACA377133044CDH23c.8740C>A (p.Leu2914Met)
c.2673C>A (n.2673C>A)
c.2337C>A (n.2337C>A)
c.8755C>A (p.Leu2919Met)
c.2020C>A (p.Leu674Met)
n.2276C>A
c.8935C>A (p.Leu2979Met)
c.8869C>A (p.Leu2957Met)
c.8932C>A (p.Leu2978Met)
c.8929C>A (p.Leu2977Met)
c.8875C>A (p.Leu2959Met)
c.8845C>A (p.Leu2949Met)
c.8800C>A (p.Leu2934Met)
c.8395C>A (p.Leu2799Met)
c.7753C>A (p.Leu2585Met)
c.5263C>A (p.Leu1755Met)
10g.71809837C=CA1918889008CDH23c.8740C= (p.Leu2914=)
c.2673C= (n.2673C=)
c.2337C= (n.2337C=)
c.8755C= (p.Leu2919=)
c.2020C= (p.Leu674=)
n.2276C=
c.8935C= (p.Leu2979=)
c.8869C= (p.Leu2957=)
c.8932C= (p.Leu2978=)
c.8929C= (p.Leu2977=)
c.8875C= (p.Leu2959=)
c.8845C= (p.Leu2949=)
c.8800C= (p.Leu2934=)
c.8395C= (p.Leu2799=)
c.7753C= (p.Leu2585=)
c.5263C= (p.Leu1755=)
10g.71809837C>GCA377133045CDH23c.8740C>G (p.Leu2914Val)
c.2673C>G (n.2673C>G)
c.2337C>G (n.2337C>G)
c.8755C>G (p.Leu2919Val)
c.2020C>G (p.Leu674Val)
n.2276C>G
c.8935C>G (p.Leu2979Val)
c.8869C>G (p.Leu2957Val)
c.8932C>G (p.Leu2978Val)
c.8929C>G (p.Leu2977Val)
c.8875C>G (p.Leu2959Val)
c.8845C>G (p.Leu2949Val)
c.8800C>G (p.Leu2934Val)
c.8395C>G (p.Leu2799Val)
c.7753C>G (p.Leu2585Val)
c.5263C>G (p.Leu1755Val)
 gnomAD v4
10g.71809837C>TCA470282462CDH23c.8740C>T (p.Leu2914=)
c.2673C>T (n.2673C>T)
c.2337C>T (n.2337C>T)
c.8755C>T (p.Leu2919=)
c.2020C>T (p.Leu674=)
n.2276C>T
c.8935C>T (p.Leu2979=)
c.8869C>T (p.Leu2957=)
c.8932C>T (p.Leu2978=)
c.8929C>T (p.Leu2977=)
c.8875C>T (p.Leu2959=)
c.8845C>T (p.Leu2949=)
c.8800C>T (p.Leu2934=)
c.8395C>T (p.Leu2799=)
c.7753C>T (p.Leu2585=)
c.5263C>T (p.Leu1755=)
 ClinVar dbSNP gnomAD v2
10g.71809838T>ACA377133046CDH23c.8741T>A (p.Leu2914Gln)
c.2674T>A (n.2674T>A)
c.2338T>A (n.2338T>A)
c.8756T>A (p.Leu2919Gln)
c.2021T>A (p.Leu674Gln)
n.2277T>A
c.8936T>A (p.Leu2979Gln)
c.8870T>A (p.Leu2957Gln)
c.8933T>A (p.Leu2978Gln)
c.8930T>A (p.Leu2977Gln)
c.8876T>A (p.Leu2959Gln)
c.8846T>A (p.Leu2949Gln)
c.8801T>A (p.Leu2934Gln)
c.8396T>A (p.Leu2799Gln)
c.7754T>A (p.Leu2585Gln)
c.5264T>A (p.Leu1755Gln)
10g.71809838T>CCA377133047CDH23c.8741T>C (p.Leu2914Pro)
c.2674T>C (n.2674T>C)
c.2338T>C (n.2338T>C)
c.8756T>C (p.Leu2919Pro)
c.2021T>C (p.Leu674Pro)
n.2277T>C
c.8936T>C (p.Leu2979Pro)
c.8870T>C (p.Leu2957Pro)
c.8933T>C (p.Leu2978Pro)
c.8930T>C (p.Leu2977Pro)
c.8876T>C (p.Leu2959Pro)
c.8846T>C (p.Leu2949Pro)
c.8801T>C (p.Leu2934Pro)
c.8396T>C (p.Leu2799Pro)
c.7754T>C (p.Leu2585Pro)
c.5264T>C (p.Leu1755Pro)
10g.71809838T>GCA377133048CDH23c.8741T>G (p.Leu2914Arg)
c.2674T>G (n.2674T>G)
c.2338T>G (n.2338T>G)
c.8756T>G (p.Leu2919Arg)
c.2021T>G (p.Leu674Arg)
n.2277T>G
c.8936T>G (p.Leu2979Arg)
c.8870T>G (p.Leu2957Arg)
c.8933T>G (p.Leu2978Arg)
c.8930T>G (p.Leu2977Arg)
c.8876T>G (p.Leu2959Arg)
c.8846T>G (p.Leu2949Arg)
c.8801T>G (p.Leu2934Arg)
c.8396T>G (p.Leu2799Arg)
c.7754T>G (p.Leu2585Arg)
c.5264T>G (p.Leu1755Arg)
10g.71809839G>ACA470282463CDH23c.8742G>A (p.Leu2914=)
c.2675G>A (n.2675G>A)
c.2339G>A (n.2339G>A)
c.8757G>A (p.Leu2919=)
c.2022G>A (p.Leu674=)
n.2278G>A
c.8937G>A (p.Leu2979=)
c.8871G>A (p.Leu2957=)
c.8934G>A (p.Leu2978=)
c.8931G>A (p.Leu2977=)
c.8877G>A (p.Leu2959=)
c.8847G>A (p.Leu2949=)
c.8802G>A (p.Leu2934=)
c.8397G>A (p.Leu2799=)
c.7755G>A (p.Leu2585=)
c.5265G>A (p.Leu1755=)
 gnomAD v4
10g.71809839G>CCA470282465CDH23c.8742G>C (p.Leu2914=)
c.2675G>C (n.2675G>C)
c.2339G>C (n.2339G>C)
c.8757G>C (p.Leu2919=)
c.2022G>C (p.Leu674=)
n.2278G>C
c.8937G>C (p.Leu2979=)
c.8871G>C (p.Leu2957=)
c.8934G>C (p.Leu2978=)
c.8931G>C (p.Leu2977=)
c.8877G>C (p.Leu2959=)
c.8847G>C (p.Leu2949=)
c.8802G>C (p.Leu2934=)
c.8397G>C (p.Leu2799=)
c.7755G>C (p.Leu2585=)
c.5265G>C (p.Leu1755=)
10g.71809839G>TCA470282467CDH23c.8742G>T (p.Leu2914=)
c.2675G>T (n.2675G>T)
c.2339G>T (n.2339G>T)
c.8757G>T (p.Leu2919=)
c.2022G>T (p.Leu674=)
n.2278G>T
c.8937G>T (p.Leu2979=)
c.8871G>T (p.Leu2957=)
c.8934G>T (p.Leu2978=)
c.8931G>T (p.Leu2977=)
c.8877G>T (p.Leu2959=)
c.8847G>T (p.Leu2949=)
c.8802G>T (p.Leu2934=)
c.8397G>T (p.Leu2799=)
c.7755G>T (p.Leu2585=)
c.5265G>T (p.Leu1755=)
 gnomAD v4
10g.71809840C>ACA377133050CDH23c.8743C>A (p.Arg2915Ser)
c.2676C>A (n.2676C>A)
c.2340C>A (n.2340C>A)
c.8758C>A (p.Arg2920Ser)
c.2023C>A (p.Arg675Ser)
n.2279C>A
c.8938C>A (p.Arg2980Ser)
c.8872C>A (p.Arg2958Ser)
c.8935C>A (p.Arg2979Ser)
c.8932C>A (p.Arg2978Ser)
c.8878C>A (p.Arg2960Ser)
c.8848C>A (p.Arg2950Ser)
c.8803C>A (p.Arg2935Ser)
c.8398C>A (p.Arg2800Ser)
c.7756C>A (p.Arg2586Ser)
c.5266C>A (p.Arg1756Ser)
10g.71809840C=CA1918889011CDH23c.8743C= (p.Arg2915=)
c.2676C= (n.2676C=)
c.2340C= (n.2340C=)
c.8758C= (p.Arg2920=)
c.2023C= (p.Arg675=)
n.2279C=
c.8938C= (p.Arg2980=)
c.8872C= (p.Arg2958=)
c.8935C= (p.Arg2979=)
c.8932C= (p.Arg2978=)
c.8878C= (p.Arg2960=)
c.8848C= (p.Arg2950=)
c.8803C= (p.Arg2935=)
c.8398C= (p.Arg2800=)
c.7756C= (p.Arg2586=)
c.5266C= (p.Arg1756=)
10g.71809840C>GCA377133049CDH23c.8743C>G (p.Arg2915Gly)
c.2676C>G (n.2676C>G)
c.2340C>G (n.2340C>G)
c.8758C>G (p.Arg2920Gly)
c.2023C>G (p.Arg675Gly)
n.2279C>G
c.8938C>G (p.Arg2980Gly)
c.8872C>G (p.Arg2958Gly)
c.8935C>G (p.Arg2979Gly)
c.8932C>G (p.Arg2978Gly)
c.8878C>G (p.Arg2960Gly)
c.8848C>G (p.Arg2950Gly)
c.8803C>G (p.Arg2935Gly)
c.8398C>G (p.Arg2800Gly)
c.7756C>G (p.Arg2586Gly)
c.5266C>G (p.Arg1756Gly)
10g.71809840C>TCA5546738CDH23c.8743C>T (p.Arg2915Cys)
c.2676C>T (n.2676C>T)
c.2340C>T (n.2340C>T)
c.8758C>T (p.Arg2920Cys)
c.2023C>T (p.Arg675Cys)
n.2279C>T
c.8938C>T (p.Arg2980Cys)
c.8872C>T (p.Arg2958Cys)
c.8935C>T (p.Arg2979Cys)
c.8932C>T (p.Arg2978Cys)
c.8878C>T (p.Arg2960Cys)
c.8848C>T (p.Arg2950Cys)
c.8803C>T (p.Arg2935Cys)
c.8398C>T (p.Arg2800Cys)
c.7756C>T (p.Arg2586Cys)
c.5266C>T (p.Arg1756Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809841G>ACA5546739CDH23c.8744G>A (p.Arg2915His)
c.2677G>A (n.2677G>A)
c.2341G>A (n.2341G>A)
c.8759G>A (p.Arg2920His)
c.2024G>A (p.Arg675His)
n.2280G>A
c.8939G>A (p.Arg2980His)
c.8873G>A (p.Arg2958His)
c.8936G>A (p.Arg2979His)
c.8933G>A (p.Arg2978His)
c.8879G>A (p.Arg2960His)
c.8849G>A (p.Arg2950His)
c.8804G>A (p.Arg2935His)
c.8399G>A (p.Arg2800His)
c.7757G>A (p.Arg2586His)
c.5267G>A (p.Arg1756His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809841G>CCA377133051CDH23c.8744G>C (p.Arg2915Pro)
c.2677G>C (n.2677G>C)
c.2341G>C (n.2341G>C)
c.8759G>C (p.Arg2920Pro)
c.2024G>C (p.Arg675Pro)
n.2280G>C
c.8939G>C (p.Arg2980Pro)
c.8873G>C (p.Arg2958Pro)
c.8936G>C (p.Arg2979Pro)
c.8933G>C (p.Arg2978Pro)
c.8879G>C (p.Arg2960Pro)
c.8849G>C (p.Arg2950Pro)
c.8804G>C (p.Arg2935Pro)
c.8399G>C (p.Arg2800Pro)
c.7757G>C (p.Arg2586Pro)
c.5267G>C (p.Arg1756Pro)
10g.71809841G=CA1918889012CDH23c.8744G= (p.Arg2915=)
c.2677G= (n.2677G=)
c.2341G= (n.2341G=)
c.8759G= (p.Arg2920=)
c.2024G= (p.Arg675=)
n.2280G=
c.8939G= (p.Arg2980=)
c.8873G= (p.Arg2958=)
c.8936G= (p.Arg2979=)
c.8933G= (p.Arg2978=)
c.8879G= (p.Arg2960=)
c.8849G= (p.Arg2950=)
c.8804G= (p.Arg2935=)
c.8399G= (p.Arg2800=)
c.7757G= (p.Arg2586=)
c.5267G= (p.Arg1756=)
10g.71809841G>TCA377133052CDH23c.8744G>T (p.Arg2915Leu)
c.2677G>T (n.2677G>T)
c.2341G>T (n.2341G>T)
c.8759G>T (p.Arg2920Leu)
c.2024G>T (p.Arg675Leu)
n.2280G>T
c.8939G>T (p.Arg2980Leu)
c.8873G>T (p.Arg2958Leu)
c.8936G>T (p.Arg2979Leu)
c.8933G>T (p.Arg2978Leu)
c.8879G>T (p.Arg2960Leu)
c.8849G>T (p.Arg2950Leu)
c.8804G>T (p.Arg2935Leu)
c.8399G>T (p.Arg2800Leu)
c.7757G>T (p.Arg2586Leu)
c.5267G>T (p.Arg1756Leu)
 gnomAD v4 COSMIC
10g.71809842C>ACA470282470CDH23c.8745C>A (p.Arg2915=)
c.2678C>A (n.2678C>A)
c.2342C>A (n.2342C>A)
c.8760C>A (p.Arg2920=)
c.2025C>A (p.Arg675=)
n.2281C>A
c.8940C>A (p.Arg2980=)
c.8874C>A (p.Arg2958=)
c.8937C>A (p.Arg2979=)
c.8934C>A (p.Arg2978=)
c.8880C>A (p.Arg2960=)
c.8850C>A (p.Arg2950=)
c.8805C>A (p.Arg2935=)
c.8400C>A (p.Arg2800=)
c.7758C>A (p.Arg2586=)
c.5268C>A (p.Arg1756=)
10g.71809842C=CA1918889013CDH23c.8745C= (p.Arg2915=)
c.2678C= (n.2678C=)
c.2342C= (n.2342C=)
c.8760C= (p.Arg2920=)
c.2025C= (p.Arg675=)
n.2281C=
c.8940C= (p.Arg2980=)
c.8874C= (p.Arg2958=)
c.8937C= (p.Arg2979=)
c.8934C= (p.Arg2978=)
c.8880C= (p.Arg2960=)
c.8850C= (p.Arg2950=)
c.8805C= (p.Arg2935=)
c.8400C= (p.Arg2800=)
c.7758C= (p.Arg2586=)
c.5268C= (p.Arg1756=)
10g.71809842C>GCA470282472CDH23c.8745C>G (p.Arg2915=)
c.2678C>G (n.2678C>G)
c.2342C>G (n.2342C>G)
c.8760C>G (p.Arg2920=)
c.2025C>G (p.Arg675=)
n.2281C>G
c.8940C>G (p.Arg2980=)
c.8874C>G (p.Arg2958=)
c.8937C>G (p.Arg2979=)
c.8934C>G (p.Arg2978=)
c.8880C>G (p.Arg2960=)
c.8850C>G (p.Arg2950=)
c.8805C>G (p.Arg2935=)
c.8400C>G (p.Arg2800=)
c.7758C>G (p.Arg2586=)
c.5268C>G (p.Arg1756=)
10g.71809842C>TCA470282474CDH23c.8745C>T (p.Arg2915=)
c.2678C>T (n.2678C>T)
c.2342C>T (n.2342C>T)
c.8760C>T (p.Arg2920=)
c.2025C>T (p.Arg675=)
n.2281C>T
c.8940C>T (p.Arg2980=)
c.8874C>T (p.Arg2958=)
c.8937C>T (p.Arg2979=)
c.8934C>T (p.Arg2978=)
c.8880C>T (p.Arg2960=)
c.8850C>T (p.Arg2950=)
c.8805C>T (p.Arg2935=)
c.8400C>T (p.Arg2800=)
c.7758C>T (p.Arg2586=)
c.5268C>T (p.Arg1756=)
 dbSNP gnomAD v2 gnomAD v4
10g.71809843delCA2559473609CDH23c.8746del (p.Thr2916ProfsTer?)
c.2679del (n.2679del)
c.2343del (n.2343del)
c.8761del (p.Thr2921ProfsTer?)
c.2026del (p.Thr676ProfsTer?)
n.2282del
c.8941del (p.Thr2981ProfsTer?)
c.8875del (p.Thr2959ProfsTer?)
c.8938del (p.Thr2980ProfsTer?)
c.8935del (p.Thr2979ProfsTer?)
c.8881del (p.Thr2961ProfsTer?)
c.8851del (p.Thr2951ProfsTer?)
c.8806del (p.Thr2936ProfsTer?)
c.8401del (p.Thr2801ProfsTer?)
c.7759del (p.Thr2587ProfsTer?)
c.5269del (p.Thr1757ProfsTer?)
10g.71809843A=CA1918889015CDH23c.8746A= (p.Thr2916=)
c.2679A= (n.2679A=)
c.2343A= (n.2343A=)
c.8761A= (p.Thr2921=)
c.2026A= (p.Thr676=)
n.2282A=
c.8941A= (p.Thr2981=)
c.8875A= (p.Thr2959=)
c.8938A= (p.Thr2980=)
c.8935A= (p.Thr2979=)
c.8881A= (p.Thr2961=)
c.8851A= (p.Thr2951=)
c.8806A= (p.Thr2936=)
c.8401A= (p.Thr2801=)
c.7759A= (p.Thr2587=)
c.5269A= (p.Thr1757=)
10g.71809843A>CCA5546740CDH23c.8746A>C (p.Thr2916Pro)
c.2679A>C (n.2679A>C)
c.2343A>C (n.2343A>C)
c.8761A>C (p.Thr2921Pro)
c.2026A>C (p.Thr676Pro)
n.2282A>C
c.8941A>C (p.Thr2981Pro)
c.8875A>C (p.Thr2959Pro)
c.8938A>C (p.Thr2980Pro)
c.8935A>C (p.Thr2979Pro)
c.8881A>C (p.Thr2961Pro)
c.8851A>C (p.Thr2951Pro)
c.8806A>C (p.Thr2936Pro)
c.8401A>C (p.Thr2801Pro)
c.7759A>C (p.Thr2587Pro)
c.5269A>C (p.Thr1757Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809843A>GCA377133053CDH23c.8746A>G (p.Thr2916Ala)
c.2679A>G (n.2679A>G)
c.2343A>G (n.2343A>G)
c.8761A>G (p.Thr2921Ala)
c.2026A>G (p.Thr676Ala)
n.2282A>G
c.8941A>G (p.Thr2981Ala)
c.8875A>G (p.Thr2959Ala)
c.8938A>G (p.Thr2980Ala)
c.8935A>G (p.Thr2979Ala)
c.8881A>G (p.Thr2961Ala)
c.8851A>G (p.Thr2951Ala)
c.8806A>G (p.Thr2936Ala)
c.8401A>G (p.Thr2801Ala)
c.7759A>G (p.Thr2587Ala)
c.5269A>G (p.Thr1757Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809843A>TCA377133054CDH23c.8746A>T (p.Thr2916Ser)
c.2679A>T (n.2679A>T)
c.2343A>T (n.2343A>T)
c.8761A>T (p.Thr2921Ser)
c.2026A>T (p.Thr676Ser)
n.2282A>T
c.8941A>T (p.Thr2981Ser)
c.8875A>T (p.Thr2959Ser)
c.8938A>T (p.Thr2980Ser)
c.8935A>T (p.Thr2979Ser)
c.8881A>T (p.Thr2961Ser)
c.8851A>T (p.Thr2951Ser)
c.8806A>T (p.Thr2936Ser)
c.8401A>T (p.Thr2801Ser)
c.7759A>T (p.Thr2587Ser)
c.5269A>T (p.Thr1757Ser)
 ClinVar dbSNP gnomAD v4
10g.71809844C>ACA377133055CDH23c.8747C>A (p.Thr2916Asn)
c.2680C>A (n.2680C>A)
c.2344C>A (n.2344C>A)
c.8762C>A (p.Thr2921Asn)
c.2027C>A (p.Thr676Asn)
n.2283C>A
c.8942C>A (p.Thr2981Asn)
c.8876C>A (p.Thr2959Asn)
c.8939C>A (p.Thr2980Asn)
c.8936C>A (p.Thr2979Asn)
c.8882C>A (p.Thr2961Asn)
c.8852C>A (p.Thr2951Asn)
c.8807C>A (p.Thr2936Asn)
c.8402C>A (p.Thr2801Asn)
c.7760C>A (p.Thr2587Asn)
c.5270C>A (p.Thr1757Asn)
10g.71809844C=CA1918889017CDH23c.8747C= (p.Thr2916=)
c.2680C= (n.2680C=)
c.2344C= (n.2344C=)
c.8762C= (p.Thr2921=)
c.2027C= (p.Thr676=)
n.2283C=
c.8942C= (p.Thr2981=)
c.8876C= (p.Thr2959=)
c.8939C= (p.Thr2980=)
c.8936C= (p.Thr2979=)
c.8882C= (p.Thr2961=)
c.8852C= (p.Thr2951=)
c.8807C= (p.Thr2936=)
c.8402C= (p.Thr2801=)
c.7760C= (p.Thr2587=)
c.5270C= (p.Thr1757=)
10g.71809844C>GCA377133056CDH23c.8747C>G (p.Thr2916Ser)
c.2680C>G (n.2680C>G)
c.2344C>G (n.2344C>G)
c.8762C>G (p.Thr2921Ser)
c.2027C>G (p.Thr676Ser)
n.2283C>G
c.8942C>G (p.Thr2981Ser)
c.8876C>G (p.Thr2959Ser)
c.8939C>G (p.Thr2980Ser)
c.8936C>G (p.Thr2979Ser)
c.8882C>G (p.Thr2961Ser)
c.8852C>G (p.Thr2951Ser)
c.8807C>G (p.Thr2936Ser)
c.8402C>G (p.Thr2801Ser)
c.7760C>G (p.Thr2587Ser)
c.5270C>G (p.Thr1757Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.71809844C>TCA377133057CDH23c.8747C>T (p.Thr2916Ile)
c.2680C>T (n.2680C>T)
c.2344C>T (n.2344C>T)
c.8762C>T (p.Thr2921Ile)
c.2027C>T (p.Thr676Ile)
n.2283C>T
c.8942C>T (p.Thr2981Ile)
c.8876C>T (p.Thr2959Ile)
c.8939C>T (p.Thr2980Ile)
c.8936C>T (p.Thr2979Ile)
c.8882C>T (p.Thr2961Ile)
c.8852C>T (p.Thr2951Ile)
c.8807C>T (p.Thr2936Ile)
c.8402C>T (p.Thr2801Ile)
c.7760C>T (p.Thr2587Ile)
c.5270C>T (p.Thr1757Ile)
 dbSNP gnomAD v4
10g.71809845C>ACA470282475CDH23c.8748C>A (p.Thr2916=)
c.2681C>A (n.2681C>A)
c.2345C>A (n.2345C>A)
c.8763C>A (p.Thr2921=)
c.2028C>A (p.Thr676=)
n.2284C>A
c.8943C>A (p.Thr2981=)
c.8877C>A (p.Thr2959=)
c.8940C>A (p.Thr2980=)
c.8937C>A (p.Thr2979=)
c.8883C>A (p.Thr2961=)
c.8853C>A (p.Thr2951=)
c.8808C>A (p.Thr2936=)
c.8403C>A (p.Thr2801=)
c.7761C>A (p.Thr2587=)
c.5271C>A (p.Thr1757=)
10g.71809845C>GCA470282477CDH23c.8748C>G (p.Thr2916=)
c.2681C>G (n.2681C>G)
c.2345C>G (n.2345C>G)
c.8763C>G (p.Thr2921=)
c.2028C>G (p.Thr676=)
n.2284C>G
c.8943C>G (p.Thr2981=)
c.8877C>G (p.Thr2959=)
c.8940C>G (p.Thr2980=)
c.8937C>G (p.Thr2979=)
c.8883C>G (p.Thr2961=)
c.8853C>G (p.Thr2951=)
c.8808C>G (p.Thr2936=)
c.8403C>G (p.Thr2801=)
c.7761C>G (p.Thr2587=)
c.5271C>G (p.Thr1757=)
10g.71809845C>TCA470282476CDH23c.8748C>T (p.Thr2916=)
c.2681C>T (n.2681C>T)
c.2345C>T (n.2345C>T)
c.8763C>T (p.Thr2921=)
c.2028C>T (p.Thr676=)
n.2284C>T
c.8943C>T (p.Thr2981=)
c.8877C>T (p.Thr2959=)
c.8940C>T (p.Thr2980=)
c.8937C>T (p.Thr2979=)
c.8883C>T (p.Thr2961=)
c.8853C>T (p.Thr2951=)
c.8808C>T (p.Thr2936=)
c.8403C>T (p.Thr2801=)
c.7761C>T (p.Thr2587=)
c.5271C>T (p.Thr1757=)
10g.71809846T>ACA377133058CDH23c.8749T>A (p.Phe2917Ile)
c.2682T>A (n.2682T>A)
c.2346T>A (n.2346T>A)
c.8764T>A (p.Phe2922Ile)
c.2029T>A (p.Phe677Ile)
n.2285T>A
c.8944T>A (p.Phe2982Ile)
c.8878T>A (p.Phe2960Ile)
c.8941T>A (p.Phe2981Ile)
c.8938T>A (p.Phe2980Ile)
c.8884T>A (p.Phe2962Ile)
c.8854T>A (p.Phe2952Ile)
c.8809T>A (p.Phe2937Ile)
c.8404T>A (p.Phe2802Ile)
c.7762T>A (p.Phe2588Ile)
c.5272T>A (p.Phe1758Ile)
10g.71809846T>CCA5546741CDH23c.8749T>C (p.Phe2917Leu)
c.2682T>C (n.2682T>C)
c.2346T>C (n.2346T>C)
c.8764T>C (p.Phe2922Leu)
c.2029T>C (p.Phe677Leu)
n.2285T>C
c.8944T>C (p.Phe2982Leu)
c.8878T>C (p.Phe2960Leu)
c.8941T>C (p.Phe2981Leu)
c.8938T>C (p.Phe2980Leu)
c.8884T>C (p.Phe2962Leu)
c.8854T>C (p.Phe2952Leu)
c.8809T>C (p.Phe2937Leu)
c.8404T>C (p.Phe2802Leu)
c.7762T>C (p.Phe2588Leu)
c.5272T>C (p.Phe1758Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809846T>GCA377133059CDH23c.8749T>G (p.Phe2917Val)
c.2682T>G (n.2682T>G)
c.2346T>G (n.2346T>G)
c.8764T>G (p.Phe2922Val)
c.2029T>G (p.Phe677Val)
n.2285T>G
c.8944T>G (p.Phe2982Val)
c.8878T>G (p.Phe2960Val)
c.8941T>G (p.Phe2981Val)
c.8938T>G (p.Phe2980Val)
c.8884T>G (p.Phe2962Val)
c.8854T>G (p.Phe2952Val)
c.8809T>G (p.Phe2937Val)
c.8404T>G (p.Phe2802Val)
c.7762T>G (p.Phe2588Val)
c.5272T>G (p.Phe1758Val)
10g.71809846T=CA1918889019CDH23c.8749T= (p.Phe2917=)
c.2682T= (n.2682T=)
c.2346T= (n.2346T=)
c.8764T= (p.Phe2922=)
c.2029T= (p.Phe677=)
n.2285T=
c.8944T= (p.Phe2982=)
c.8878T= (p.Phe2960=)
c.8941T= (p.Phe2981=)
c.8938T= (p.Phe2980=)
c.8884T= (p.Phe2962=)
c.8854T= (p.Phe2952=)
c.8809T= (p.Phe2937=)
c.8404T= (p.Phe2802=)
c.7762T= (p.Phe2588=)
c.5272T= (p.Phe1758=)
10g.71809847T>ACA5546742CDH23c.8750T>A (p.Phe2917Tyr)
c.2683T>A (n.2683T>A)
c.2347T>A (n.2347T>A)
c.8765T>A (p.Phe2922Tyr)
c.2030T>A (p.Phe677Tyr)
n.2286T>A
c.8945T>A (p.Phe2982Tyr)
c.8879T>A (p.Phe2960Tyr)
c.8942T>A (p.Phe2981Tyr)
c.8939T>A (p.Phe2980Tyr)
c.8885T>A (p.Phe2962Tyr)
c.8855T>A (p.Phe2952Tyr)
c.8810T>A (p.Phe2937Tyr)
c.8405T>A (p.Phe2802Tyr)
c.7763T>A (p.Phe2588Tyr)
c.5273T>A (p.Phe1758Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809847T>CCA377133061CDH23c.8750T>C (p.Phe2917Ser)
c.2683T>C (n.2683T>C)
c.2347T>C (n.2347T>C)
c.8765T>C (p.Phe2922Ser)
c.2030T>C (p.Phe677Ser)
n.2286T>C
c.8945T>C (p.Phe2982Ser)
c.8879T>C (p.Phe2960Ser)
c.8942T>C (p.Phe2981Ser)
c.8939T>C (p.Phe2980Ser)
c.8885T>C (p.Phe2962Ser)
c.8855T>C (p.Phe2952Ser)
c.8810T>C (p.Phe2937Ser)
c.8405T>C (p.Phe2802Ser)
c.7763T>C (p.Phe2588Ser)
c.5273T>C (p.Phe1758Ser)
10g.71809847T>GCA377133060CDH23c.8750T>G (p.Phe2917Cys)
c.2683T>G (n.2683T>G)
c.2347T>G (n.2347T>G)
c.8765T>G (p.Phe2922Cys)
c.2030T>G (p.Phe677Cys)
n.2286T>G
c.8945T>G (p.Phe2982Cys)
c.8879T>G (p.Phe2960Cys)
c.8942T>G (p.Phe2981Cys)
c.8939T>G (p.Phe2980Cys)
c.8885T>G (p.Phe2962Cys)
c.8855T>G (p.Phe2952Cys)
c.8810T>G (p.Phe2937Cys)
c.8405T>G (p.Phe2802Cys)
c.7763T>G (p.Phe2588Cys)
c.5273T>G (p.Phe1758Cys)
 dbSNP
10g.71809847T=CA1918889020CDH23c.8750T= (p.Phe2917=)
c.2683T= (n.2683T=)
c.2347T= (n.2347T=)
c.8765T= (p.Phe2922=)
c.2030T= (p.Phe677=)
n.2286T=
c.8945T= (p.Phe2982=)
c.8879T= (p.Phe2960=)
c.8942T= (p.Phe2981=)
c.8939T= (p.Phe2980=)
c.8885T= (p.Phe2962=)
c.8855T= (p.Phe2952=)
c.8810T= (p.Phe2937=)
c.8405T= (p.Phe2802=)
c.7763T= (p.Phe2588=)
c.5273T= (p.Phe1758=)
10g.71809848C>ACA377133063CDH23c.8751C>A (p.Phe2917Leu)
c.2684C>A (n.2684C>A)
c.2348C>A (n.2348C>A)
c.8766C>A (p.Phe2922Leu)
c.2031C>A (p.Phe677Leu)
n.2287C>A
c.8946C>A (p.Phe2982Leu)
c.8880C>A (p.Phe2960Leu)
c.8943C>A (p.Phe2981Leu)
c.8940C>A (p.Phe2980Leu)
c.8886C>A (p.Phe2962Leu)
c.8856C>A (p.Phe2952Leu)
c.8811C>A (p.Phe2937Leu)
c.8406C>A (p.Phe2802Leu)
c.7764C>A (p.Phe2588Leu)
c.5274C>A (p.Phe1758Leu)
10g.71809848C=CA1918889021CDH23c.8751C= (p.Phe2917=)
c.2684C= (n.2684C=)
c.2348C= (n.2348C=)
c.8766C= (p.Phe2922=)
c.2031C= (p.Phe677=)
n.2287C=
c.8946C= (p.Phe2982=)
c.8880C= (p.Phe2960=)
c.8943C= (p.Phe2981=)
c.8940C= (p.Phe2980=)
c.8886C= (p.Phe2962=)
c.8856C= (p.Phe2952=)
c.8811C= (p.Phe2937=)
c.8406C= (p.Phe2802=)
c.7764C= (p.Phe2588=)
c.5274C= (p.Phe1758=)
10g.71809848C>GCA377133062CDH23c.8751C>G (p.Phe2917Leu)
c.2684C>G (n.2684C>G)
c.2348C>G (n.2348C>G)
c.8766C>G (p.Phe2922Leu)
c.2031C>G (p.Phe677Leu)
n.2287C>G
c.8946C>G (p.Phe2982Leu)
c.8880C>G (p.Phe2960Leu)
c.8943C>G (p.Phe2981Leu)
c.8940C>G (p.Phe2980Leu)
c.8886C>G (p.Phe2962Leu)
c.8856C>G (p.Phe2952Leu)
c.8811C>G (p.Phe2937Leu)
c.8406C>G (p.Phe2802Leu)
c.7764C>G (p.Phe2588Leu)
c.5274C>G (p.Phe1758Leu)
 gnomAD v4
10g.71809848C>TCA5546743CDH23c.8751C>T (p.Phe2917=)
c.2684C>T (n.2684C>T)
c.2348C>T (n.2348C>T)
c.8766C>T (p.Phe2922=)
c.2031C>T (p.Phe677=)
n.2287C>T
c.8946C>T (p.Phe2982=)
c.8880C>T (p.Phe2960=)
c.8943C>T (p.Phe2981=)
c.8940C>T (p.Phe2980=)
c.8886C>T (p.Phe2962=)
c.8856C>T (p.Phe2952=)
c.8811C>T (p.Phe2937=)
c.8406C>T (p.Phe2802=)
c.7764C>T (p.Phe2588=)
c.5274C>T (p.Phe1758=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809849G>ACA377133064CDH23c.8752G>A (p.Asp2918Asn)
c.2685G>A (n.2685G>A)
c.2349G>A (n.2349G>A)
c.8767G>A (p.Asp2923Asn)
c.2032G>A (p.Asp678Asn)
n.2288G>A
c.8947G>A (p.Asp2983Asn)
c.8881G>A (p.Asp2961Asn)
c.8944G>A (p.Asp2982Asn)
c.8941G>A (p.Asp2981Asn)
c.8887G>A (p.Asp2963Asn)
c.8857G>A (p.Asp2953Asn)
c.8812G>A (p.Asp2938Asn)
c.8407G>A (p.Asp2803Asn)
c.7765G>A (p.Asp2589Asn)
c.5275G>A (p.Asp1759Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809849G>CCA377133066CDH23c.8752G>C (p.Asp2918His)
c.2685G>C (n.2685G>C)
c.2349G>C (n.2349G>C)
c.8767G>C (p.Asp2923His)
c.2032G>C (p.Asp678His)
n.2288G>C
c.8947G>C (p.Asp2983His)
c.8881G>C (p.Asp2961His)
c.8944G>C (p.Asp2982His)
c.8941G>C (p.Asp2981His)
c.8887G>C (p.Asp2963His)
c.8857G>C (p.Asp2953His)
c.8812G>C (p.Asp2938His)
c.8407G>C (p.Asp2803His)
c.7765G>C (p.Asp2589His)
c.5275G>C (p.Asp1759His)
10g.71809849G=CA1918889023CDH23c.8752G= (p.Asp2918=)
c.2685G= (n.2685G=)
c.2349G= (n.2349G=)
c.8767G= (p.Asp2923=)
c.2032G= (p.Asp678=)
n.2288G=
c.8947G= (p.Asp2983=)
c.8881G= (p.Asp2961=)
c.8944G= (p.Asp2982=)
c.8941G= (p.Asp2981=)
c.8887G= (p.Asp2963=)
c.8857G= (p.Asp2953=)
c.8812G= (p.Asp2938=)
c.8407G= (p.Asp2803=)
c.7765G= (p.Asp2589=)
c.5275G= (p.Asp1759=)
10g.71809849G>TCA377133065CDH23c.8752G>T (p.Asp2918Tyr)
c.2685G>T (n.2685G>T)
c.2349G>T (n.2349G>T)
c.8767G>T (p.Asp2923Tyr)
c.2032G>T (p.Asp678Tyr)
n.2288G>T
c.8947G>T (p.Asp2983Tyr)
c.8881G>T (p.Asp2961Tyr)
c.8944G>T (p.Asp2982Tyr)
c.8941G>T (p.Asp2981Tyr)
c.8887G>T (p.Asp2963Tyr)
c.8857G>T (p.Asp2953Tyr)
c.8812G>T (p.Asp2938Tyr)
c.8407G>T (p.Asp2803Tyr)
c.7765G>T (p.Asp2589Tyr)
c.5275G>T (p.Asp1759Tyr)
 gnomAD v4
10g.71809850A>CCA377133067CDH23c.8753A>C (p.Asp2918Ala)
c.2686A>C (n.2686A>C)
c.2350A>C (n.2350A>C)
c.8768A>C (p.Asp2923Ala)
c.2033A>C (p.Asp678Ala)
n.2289A>C
c.8948A>C (p.Asp2983Ala)
c.8882A>C (p.Asp2961Ala)
c.8945A>C (p.Asp2982Ala)
c.8942A>C (p.Asp2981Ala)
c.8888A>C (p.Asp2963Ala)
c.8858A>C (p.Asp2953Ala)
c.8813A>C (p.Asp2938Ala)
c.8408A>C (p.Asp2803Ala)
c.7766A>C (p.Asp2589Ala)
c.5276A>C (p.Asp1759Ala)
10g.71809850A>GCA377133068CDH23c.8753A>G (p.Asp2918Gly)
c.2686A>G (n.2686A>G)
c.2350A>G (n.2350A>G)
c.8768A>G (p.Asp2923Gly)
c.2033A>G (p.Asp678Gly)
n.2289A>G
c.8948A>G (p.Asp2983Gly)
c.8882A>G (p.Asp2961Gly)
c.8945A>G (p.Asp2982Gly)
c.8942A>G (p.Asp2981Gly)
c.8888A>G (p.Asp2963Gly)
c.8858A>G (p.Asp2953Gly)
c.8813A>G (p.Asp2938Gly)
c.8408A>G (p.Asp2803Gly)
c.7766A>G (p.Asp2589Gly)
c.5276A>G (p.Asp1759Gly)
10g.71809850A>TCA377133069CDH23c.8753A>T (p.Asp2918Val)
c.2686A>T (n.2686A>T)
c.2350A>T (n.2350A>T)
c.8768A>T (p.Asp2923Val)
c.2033A>T (p.Asp678Val)
n.2289A>T
c.8948A>T (p.Asp2983Val)
c.8882A>T (p.Asp2961Val)
c.8945A>T (p.Asp2982Val)
c.8942A>T (p.Asp2981Val)
c.8888A>T (p.Asp2963Val)
c.8858A>T (p.Asp2953Val)
c.8813A>T (p.Asp2938Val)
c.8408A>T (p.Asp2803Val)
c.7766A>T (p.Asp2589Val)
c.5276A>T (p.Asp1759Val)
 gnomAD v4
10g.71809851C>ACA377133070CDH23c.8754C>A (p.Asp2918Glu)
c.2687C>A (n.2687C>A)
c.2351C>A (n.2351C>A)
c.8769C>A (p.Asp2923Glu)
c.2034C>A (p.Asp678Glu)
n.2290C>A
c.8949C>A (p.Asp2983Glu)
c.8883C>A (p.Asp2961Glu)
c.8946C>A (p.Asp2982Glu)
c.8943C>A (p.Asp2981Glu)
c.8889C>A (p.Asp2963Glu)
c.8859C>A (p.Asp2953Glu)
c.8814C>A (p.Asp2938Glu)
c.8409C>A (p.Asp2803Glu)
c.7767C>A (p.Asp2589Glu)
c.5277C>A (p.Asp1759Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.71809851C=CA1918889025CDH23c.8754C= (p.Asp2918=)
c.2687C= (n.2687C=)
c.2351C= (n.2351C=)
c.8769C= (p.Asp2923=)
c.2034C= (p.Asp678=)
n.2290C=
c.8949C= (p.Asp2983=)
c.8883C= (p.Asp2961=)
c.8946C= (p.Asp2982=)
c.8943C= (p.Asp2981=)
c.8889C= (p.Asp2963=)
c.8859C= (p.Asp2953=)
c.8814C= (p.Asp2938=)
c.8409C= (p.Asp2803=)
c.7767C= (p.Asp2589=)
c.5277C= (p.Asp1759=)
10g.71809851C>GCA377133071CDH23c.8754C>G (p.Asp2918Glu)
c.2687C>G (n.2687C>G)
c.2351C>G (n.2351C>G)
c.8769C>G (p.Asp2923Glu)
c.2034C>G (p.Asp678Glu)
n.2290C>G
c.8949C>G (p.Asp2983Glu)
c.8883C>G (p.Asp2961Glu)
c.8946C>G (p.Asp2982Glu)
c.8943C>G (p.Asp2981Glu)
c.8889C>G (p.Asp2963Glu)
c.8859C>G (p.Asp2953Glu)
c.8814C>G (p.Asp2938Glu)
c.8409C>G (p.Asp2803Glu)
c.7767C>G (p.Asp2589Glu)
c.5277C>G (p.Asp1759Glu)
10g.71809851C>TCA470282482CDH23c.8754C>T (p.Asp2918=)
c.2687C>T (n.2687C>T)
c.2351C>T (n.2351C>T)
c.8769C>T (p.Asp2923=)
c.2034C>T (p.Asp678=)
n.2290C>T
c.8949C>T (p.Asp2983=)
c.8883C>T (p.Asp2961=)
c.8946C>T (p.Asp2982=)
c.8943C>T (p.Asp2981=)
c.8889C>T (p.Asp2963=)
c.8859C>T (p.Asp2953=)
c.8814C>T (p.Asp2938=)
c.8409C>T (p.Asp2803=)
c.7767C>T (p.Asp2589=)
c.5277C>T (p.Asp1759=)
10g.71809852C>ACA377133072CDH23c.8755C>A (p.Leu2919Ile)
c.2688C>A (n.2688C>A)
c.2352C>A (n.2352C>A)
c.8770C>A (p.Leu2924Ile)
c.2035C>A (p.Leu679Ile)
n.2291C>A
c.8950C>A (p.Leu2984Ile)
c.8884C>A (p.Leu2962Ile)
c.8947C>A (p.Leu2983Ile)
c.8944C>A (p.Leu2982Ile)
c.8890C>A (p.Leu2964Ile)
c.8860C>A (p.Leu2954Ile)
c.8815C>A (p.Leu2939Ile)
c.8410C>A (p.Leu2804Ile)
c.7768C>A (p.Leu2590Ile)
c.5278C>A (p.Leu1760Ile)
10g.71809852C=CA1918889027CDH23c.8755C= (p.Leu2919=)
c.2688C= (n.2688C=)
c.2352C= (n.2352C=)
c.8770C= (p.Leu2924=)
c.2035C= (p.Leu679=)
n.2291C=
c.8950C= (p.Leu2984=)
c.8884C= (p.Leu2962=)
c.8947C= (p.Leu2983=)
c.8944C= (p.Leu2982=)
c.8890C= (p.Leu2964=)
c.8860C= (p.Leu2954=)
c.8815C= (p.Leu2939=)
c.8410C= (p.Leu2804=)
c.7768C= (p.Leu2590=)
c.5278C= (p.Leu1760=)
10g.71809852C>GCA377133073CDH23c.8755C>G (p.Leu2919Val)
c.2688C>G (n.2688C>G)
c.2352C>G (n.2352C>G)
c.8770C>G (p.Leu2924Val)
c.2035C>G (p.Leu679Val)
n.2291C>G
c.8950C>G (p.Leu2984Val)
c.8884C>G (p.Leu2962Val)
c.8947C>G (p.Leu2983Val)
c.8944C>G (p.Leu2982Val)
c.8890C>G (p.Leu2964Val)
c.8860C>G (p.Leu2954Val)
c.8815C>G (p.Leu2939Val)
c.8410C>G (p.Leu2804Val)
c.7768C>G (p.Leu2590Val)
c.5278C>G (p.Leu1760Val)
10g.71809852C>TCA5546744CDH23c.8755C>T (p.Leu2919Phe)
c.2688C>T (n.2688C>T)
c.2352C>T (n.2352C>T)
c.8770C>T (p.Leu2924Phe)
c.2035C>T (p.Leu679Phe)
n.2291C>T
c.8950C>T (p.Leu2984Phe)
c.8884C>T (p.Leu2962Phe)
c.8947C>T (p.Leu2983Phe)
c.8944C>T (p.Leu2982Phe)
c.8890C>T (p.Leu2964Phe)
c.8860C>T (p.Leu2954Phe)
c.8815C>T (p.Leu2939Phe)
c.8410C>T (p.Leu2804Phe)
c.7768C>T (p.Leu2590Phe)
c.5278C>T (p.Leu1760Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71809853T>ACA377133074CDH23c.8756T>A (p.Leu2919His)
c.2689T>A (n.2689T>A)
c.2353T>A (n.2353T>A)
c.8771T>A (p.Leu2924His)
c.2036T>A (p.Leu679His)
n.2292T>A
c.8951T>A (p.Leu2984His)
c.8885T>A (p.Leu2962His)
c.8948T>A (p.Leu2983His)
c.8945T>A (p.Leu2982His)
c.8891T>A (p.Leu2964His)
c.8861T>A (p.Leu2954His)
c.8816T>A (p.Leu2939His)
c.8411T>A (p.Leu2804His)
c.7769T>A (p.Leu2590His)
c.5279T>A (p.Leu1760His)
10g.71809853T>CCA377133075CDH23c.8756T>C (p.Leu2919Pro)
c.2689T>C (n.2689T>C)
c.2353T>C (n.2353T>C)
c.8771T>C (p.Leu2924Pro)
c.2036T>C (p.Leu679Pro)
n.2292T>C
c.8951T>C (p.Leu2984Pro)
c.8885T>C (p.Leu2962Pro)
c.8948T>C (p.Leu2983Pro)
c.8945T>C (p.Leu2982Pro)
c.8891T>C (p.Leu2964Pro)
c.8861T>C (p.Leu2954Pro)
c.8816T>C (p.Leu2939Pro)
c.8411T>C (p.Leu2804Pro)
c.7769T>C (p.Leu2590Pro)
c.5279T>C (p.Leu1760Pro)
10g.71809853T>GCA377133076CDH23c.8756T>G (p.Leu2919Arg)
c.2689T>G (n.2689T>G)
c.2353T>G (n.2353T>G)
c.8771T>G (p.Leu2924Arg)
c.2036T>G (p.Leu679Arg)
n.2292T>G
c.8951T>G (p.Leu2984Arg)
c.8885T>G (p.Leu2962Arg)
c.8948T>G (p.Leu2983Arg)
c.8945T>G (p.Leu2982Arg)
c.8891T>G (p.Leu2964Arg)
c.8861T>G (p.Leu2954Arg)
c.8816T>G (p.Leu2939Arg)
c.8411T>G (p.Leu2804Arg)
c.7769T>G (p.Leu2590Arg)
c.5279T>G (p.Leu1760Arg)
10g.71809854C>ACA470282485CDH23c.8757C>A (p.Leu2919=)
c.2690C>A (n.2690C>A)
c.2354C>A (n.2354C>A)
c.8772C>A (p.Leu2924=)
c.2037C>A (p.Leu679=)
n.2293C>A
c.8952C>A (p.Leu2984=)
c.8886C>A (p.Leu2962=)
c.8949C>A (p.Leu2983=)
c.8946C>A (p.Leu2982=)
c.8892C>A (p.Leu2964=)
c.8862C>A (p.Leu2954=)
c.8817C>A (p.Leu2939=)
c.8412C>A (p.Leu2804=)
c.7770C>A (p.Leu2590=)
c.5280C>A (p.Leu1760=)
10g.71809854C=CA1918889029CDH23c.8757C= (p.Leu2919=)
c.2690C= (n.2690C=)
c.2354C= (n.2354C=)
c.8772C= (p.Leu2924=)
c.2037C= (p.Leu679=)
n.2293C=
c.8952C= (p.Leu2984=)
c.8886C= (p.Leu2962=)
c.8949C= (p.Leu2983=)
c.8946C= (p.Leu2982=)
c.8892C= (p.Leu2964=)
c.8862C= (p.Leu2954=)
c.8817C= (p.Leu2939=)
c.8412C= (p.Leu2804=)
c.7770C= (p.Leu2590=)
c.5280C= (p.Leu1760=)
10g.71809854C>GCA470282484CDH23c.8757C>G (p.Leu2919=)
c.2690C>G (n.2690C>G)
c.2354C>G (n.2354C>G)
c.8772C>G (p.Leu2924=)
c.2037C>G (p.Leu679=)
n.2293C>G
c.8952C>G (p.Leu2984=)
c.8886C>G (p.Leu2962=)
c.8949C>G (p.Leu2983=)
c.8946C>G (p.Leu2982=)
c.8892C>G (p.Leu2964=)
c.8862C>G (p.Leu2954=)
c.8817C>G (p.Leu2939=)
c.8412C>G (p.Leu2804=)
c.7770C>G (p.Leu2590=)
c.5280C>G (p.Leu1760=)
 gnomAD v4
10g.71809854C>TCA209439075CDH23c.8757C>T (p.Leu2919=)
c.2690C>T (n.2690C>T)
c.2354C>T (n.2354C>T)
c.8772C>T (p.Leu2924=)
c.2037C>T (p.Leu679=)
n.2293C>T
c.8952C>T (p.Leu2984=)
c.8886C>T (p.Leu2962=)
c.8949C>T (p.Leu2983=)
c.8946C>T (p.Leu2982=)
c.8892C>T (p.Leu2964=)
c.8862C>T (p.Leu2954=)
c.8817C>T (p.Leu2939=)
c.8412C>T (p.Leu2804=)
c.7770C>T (p.Leu2590=)
c.5280C>T (p.Leu1760=)
 dbSNP
10g.71809855T>ACA377133079CDH23c.8758T>A (p.Phe2920Ile)
c.2691T>A (n.2691T>A)
c.2355T>A (n.2355T>A)
c.8773T>A (p.Phe2925Ile)
c.2038T>A (p.Phe680Ile)
n.2294T>A
c.8953T>A (p.Phe2985Ile)
c.8887T>A (p.Phe2963Ile)
c.8950T>A (p.Phe2984Ile)
c.8947T>A (p.Phe2983Ile)
c.8893T>A (p.Phe2965Ile)
c.8863T>A (p.Phe2955Ile)
c.8818T>A (p.Phe2940Ile)
c.8413T>A (p.Phe2805Ile)
c.7771T>A (p.Phe2591Ile)
c.5281T>A (p.Phe1761Ile)
10g.71809855T>CCA377133077CDH23c.8758T>C (p.Phe2920Leu)
c.2691T>C (n.2691T>C)
c.2355T>C (n.2355T>C)
c.8773T>C (p.Phe2925Leu)
c.2038T>C (p.Phe680Leu)
n.2294T>C
c.8953T>C (p.Phe2985Leu)
c.8887T>C (p.Phe2963Leu)
c.8950T>C (p.Phe2984Leu)
c.8947T>C (p.Phe2983Leu)
c.8893T>C (p.Phe2965Leu)
c.8863T>C (p.Phe2955Leu)
c.8818T>C (p.Phe2940Leu)
c.8413T>C (p.Phe2805Leu)
c.7771T>C (p.Phe2591Leu)
c.5281T>C (p.Phe1761Leu)
10g.71809855T>GCA377133078CDH23c.8758T>G (p.Phe2920Val)
c.2691T>G (n.2691T>G)
c.2355T>G (n.2355T>G)
c.8773T>G (p.Phe2925Val)
c.2038T>G (p.Phe680Val)
n.2294T>G
c.8953T>G (p.Phe2985Val)
c.8887T>G (p.Phe2963Val)
c.8950T>G (p.Phe2984Val)
c.8947T>G (p.Phe2983Val)
c.8893T>G (p.Phe2965Val)
c.8863T>G (p.Phe2955Val)
c.8818T>G (p.Phe2940Val)
c.8413T>G (p.Phe2805Val)
c.7771T>G (p.Phe2591Val)
c.5281T>G (p.Phe1761Val)
10g.71809856T>ACA5546745CDH23c.8759T>A (p.Phe2920Tyr)
c.2692T>A (n.2692T>A)
c.2356T>A (n.2356T>A)
c.8774T>A (p.Phe2925Tyr)
c.2039T>A (p.Phe680Tyr)
n.2295T>A
c.8954T>A (p.Phe2985Tyr)
c.8888T>A (p.Phe2963Tyr)
c.8951T>A (p.Phe2984Tyr)
c.8948T>A (p.Phe2983Tyr)
c.8894T>A (p.Phe2965Tyr)
c.8864T>A (p.Phe2955Tyr)
c.8819T>A (p.Phe2940Tyr)
c.8414T>A (p.Phe2805Tyr)
c.7772T>A (p.Phe2591Tyr)
c.5282T>A (p.Phe1761Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809856T>CCA377133080CDH23c.8759T>C (p.Phe2920Ser)
c.2692T>C (n.2692T>C)
c.2356T>C (n.2356T>C)
c.8774T>C (p.Phe2925Ser)
c.2039T>C (p.Phe680Ser)
n.2295T>C
c.8954T>C (p.Phe2985Ser)
c.8888T>C (p.Phe2963Ser)
c.8951T>C (p.Phe2984Ser)
c.8948T>C (p.Phe2983Ser)
c.8894T>C (p.Phe2965Ser)
c.8864T>C (p.Phe2955Ser)
c.8819T>C (p.Phe2940Ser)
c.8414T>C (p.Phe2805Ser)
c.7772T>C (p.Phe2591Ser)
c.5282T>C (p.Phe1761Ser)
10g.71809856T>GCA377133081CDH23c.8759T>G (p.Phe2920Cys)
c.2692T>G (n.2692T>G)
c.2356T>G (n.2356T>G)
c.8774T>G (p.Phe2925Cys)
c.2039T>G (p.Phe680Cys)
n.2295T>G
c.8954T>G (p.Phe2985Cys)
c.8888T>G (p.Phe2963Cys)
c.8951T>G (p.Phe2984Cys)
c.8948T>G (p.Phe2983Cys)
c.8894T>G (p.Phe2965Cys)
c.8864T>G (p.Phe2955Cys)
c.8819T>G (p.Phe2940Cys)
c.8414T>G (p.Phe2805Cys)
c.7772T>G (p.Phe2591Cys)
c.5282T>G (p.Phe1761Cys)
10g.71809856T=CA1918889030CDH23c.8759T= (p.Phe2920=)
c.2692T= (n.2692T=)
c.2356T= (n.2356T=)
c.8774T= (p.Phe2925=)
c.2039T= (p.Phe680=)
n.2295T=
c.8954T= (p.Phe2985=)
c.8888T= (p.Phe2963=)
c.8951T= (p.Phe2984=)
c.8948T= (p.Phe2983=)
c.8894T= (p.Phe2965=)
c.8864T= (p.Phe2955=)
c.8819T= (p.Phe2940=)
c.8414T= (p.Phe2805=)
c.7772T= (p.Phe2591=)
c.5282T= (p.Phe1761=)
10g.71809857C>ACA377133082CDH23c.8760C>A (p.Phe2920Leu)
c.2693C>A (n.2693C>A)
c.2357C>A (n.2357C>A)
c.8775C>A (p.Phe2925Leu)
c.2040C>A (p.Phe680Leu)
n.2296C>A
c.8955C>A (p.Phe2985Leu)
c.8889C>A (p.Phe2963Leu)
c.8952C>A (p.Phe2984Leu)
c.8949C>A (p.Phe2983Leu)
c.8895C>A (p.Phe2965Leu)
c.8865C>A (p.Phe2955Leu)
c.8820C>A (p.Phe2940Leu)
c.8415C>A (p.Phe2805Leu)
c.7773C>A (p.Phe2591Leu)
c.5283C>A (p.Phe1761Leu)
10g.71809857C>GCA377133083CDH23c.8760C>G (p.Phe2920Leu)
c.2693C>G (n.2693C>G)
c.2357C>G (n.2357C>G)
c.8775C>G (p.Phe2925Leu)
c.2040C>G (p.Phe680Leu)
n.2296C>G
c.8955C>G (p.Phe2985Leu)
c.8889C>G (p.Phe2963Leu)
c.8952C>G (p.Phe2984Leu)
c.8949C>G (p.Phe2983Leu)
c.8895C>G (p.Phe2965Leu)
c.8865C>G (p.Phe2955Leu)
c.8820C>G (p.Phe2940Leu)
c.8415C>G (p.Phe2805Leu)
c.7773C>G (p.Phe2591Leu)
c.5283C>G (p.Phe1761Leu)
10g.71809857C>TCA470282486CDH23c.8760C>T (p.Phe2920=)
c.2693C>T (n.2693C>T)
c.2357C>T (n.2357C>T)
c.8775C>T (p.Phe2925=)
c.2040C>T (p.Phe680=)
n.2296C>T
c.8955C>T (p.Phe2985=)
c.8889C>T (p.Phe2963=)
c.8952C>T (p.Phe2984=)
c.8949C>T (p.Phe2983=)
c.8895C>T (p.Phe2965=)
c.8865C>T (p.Phe2955=)
c.8820C>T (p.Phe2940=)
c.8415C>T (p.Phe2805=)
c.7773C>T (p.Phe2591=)
c.5283C>T (p.Phe1761=)
10g.71809858A=CA1918889032CDH23c.8761A= (p.Met2921=)
c.2694A= (n.2694A=)
c.2358A= (n.2358A=)
c.8776A= (p.Met2926=)
c.2041A= (p.Met681=)
n.2297A=
c.8956A= (p.Met2986=)
c.8890A= (p.Met2964=)
c.8953A= (p.Met2985=)
c.8950A= (p.Met2984=)
c.8896A= (p.Met2966=)
c.8866A= (p.Met2956=)
c.8821A= (p.Met2941=)
c.8416A= (p.Met2806=)
c.7774A= (p.Met2592=)
c.5284A= (p.Met1762=)
10g.71809858A>CCA377133084CDH23c.8761A>C (p.Met2921Leu)
c.2694A>C (n.2694A>C)
c.2358A>C (n.2358A>C)
c.8776A>C (p.Met2926Leu)
c.2041A>C (p.Met681Leu)
n.2297A>C
c.8956A>C (p.Met2986Leu)
c.8890A>C (p.Met2964Leu)
c.8953A>C (p.Met2985Leu)
c.8950A>C (p.Met2984Leu)
c.8896A>C (p.Met2966Leu)
c.8866A>C (p.Met2956Leu)
c.8821A>C (p.Met2941Leu)
c.8416A>C (p.Met2806Leu)
c.7774A>C (p.Met2592Leu)
c.5284A>C (p.Met1762Leu)
10g.71809858A>GCA377133085CDH23c.8761A>G (p.Met2921Val)
c.2694A>G (n.2694A>G)
c.2358A>G (n.2358A>G)
c.8776A>G (p.Met2926Val)
c.2041A>G (p.Met681Val)
n.2297A>G
c.8956A>G (p.Met2986Val)
c.8890A>G (p.Met2964Val)
c.8953A>G (p.Met2985Val)
c.8950A>G (p.Met2984Val)
c.8896A>G (p.Met2966Val)
c.8866A>G (p.Met2956Val)
c.8821A>G (p.Met2941Val)
c.8416A>G (p.Met2806Val)
c.7774A>G (p.Met2592Val)
c.5284A>G (p.Met1762Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71809858A>TCA377133086CDH23c.8761A>T (p.Met2921Leu)
c.2694A>T (n.2694A>T)
c.2358A>T (n.2358A>T)
c.8776A>T (p.Met2926Leu)
c.2041A>T (p.Met681Leu)
n.2297A>T
c.8956A>T (p.Met2986Leu)
c.8890A>T (p.Met2964Leu)
c.8953A>T (p.Met2985Leu)
c.8950A>T (p.Met2984Leu)
c.8896A>T (p.Met2966Leu)
c.8866A>T (p.Met2956Leu)
c.8821A>T (p.Met2941Leu)
c.8416A>T (p.Met2806Leu)
c.7774A>T (p.Met2592Leu)
c.5284A>T (p.Met1762Leu)
10g.71809859T>ACA377133087CDH23c.8762T>A (p.Met2921Lys)
c.2695T>A (n.2695T>A)
c.2359T>A (n.2359T>A)
c.8777T>A (p.Met2926Lys)
c.2042T>A (p.Met681Lys)
n.2298T>A
c.8957T>A (p.Met2986Lys)
c.8891T>A (p.Met2964Lys)
c.8954T>A (p.Met2985Lys)
c.8951T>A (p.Met2984Lys)
c.8897T>A (p.Met2966Lys)
c.8867T>A (p.Met2956Lys)
c.8822T>A (p.Met2941Lys)
c.8417T>A (p.Met2806Lys)
c.7775T>A (p.Met2592Lys)
c.5285T>A (p.Met1762Lys)
10g.71809859T>CCA377133088CDH23c.8762T>C (p.Met2921Thr)
c.2695T>C (n.2695T>C)
c.2359T>C (n.2359T>C)
c.8777T>C (p.Met2926Thr)
c.2042T>C (p.Met681Thr)
n.2298T>C
c.8957T>C (p.Met2986Thr)
c.8891T>C (p.Met2964Thr)
c.8954T>C (p.Met2985Thr)
c.8951T>C (p.Met2984Thr)
c.8897T>C (p.Met2966Thr)
c.8867T>C (p.Met2956Thr)
c.8822T>C (p.Met2941Thr)
c.8417T>C (p.Met2806Thr)
c.7775T>C (p.Met2592Thr)
c.5285T>C (p.Met1762Thr)
10g.71809859T>GCA377133089CDH23c.8762T>G (p.Met2921Arg)
c.2695T>G (n.2695T>G)
c.2359T>G (n.2359T>G)
c.8777T>G (p.Met2926Arg)
c.2042T>G (p.Met681Arg)
n.2298T>G
c.8957T>G (p.Met2986Arg)
c.8891T>G (p.Met2964Arg)
c.8954T>G (p.Met2985Arg)
c.8951T>G (p.Met2984Arg)
c.8897T>G (p.Met2966Arg)
c.8867T>G (p.Met2956Arg)
c.8822T>G (p.Met2941Arg)
c.8417T>G (p.Met2806Arg)
c.7775T>G (p.Met2592Arg)
c.5285T>G (p.Met1762Arg)
10g.71809860G>ACA5546746CDH23c.8763G>A (p.Met2921Ile)
c.2696G>A (n.2696G>A)
c.2360G>A (n.2360G>A)
c.8778G>A (p.Met2926Ile)
c.2043G>A (p.Met681Ile)
n.2299G>A
c.8958G>A (p.Met2986Ile)
c.8892G>A (p.Met2964Ile)
c.8955G>A (p.Met2985Ile)
c.8952G>A (p.Met2984Ile)
c.8898G>A (p.Met2966Ile)
c.8868G>A (p.Met2956Ile)
c.8823G>A (p.Met2941Ile)
c.8418G>A (p.Met2806Ile)
c.7776G>A (p.Met2592Ile)
c.5286G>A (p.Met1762Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809860G>CCA377133091CDH23c.8763G>C (p.Met2921Ile)
c.2696G>C (n.2696G>C)
c.2360G>C (n.2360G>C)
c.8778G>C (p.Met2926Ile)
c.2043G>C (p.Met681Ile)
n.2299G>C
c.8958G>C (p.Met2986Ile)
c.8892G>C (p.Met2964Ile)
c.8955G>C (p.Met2985Ile)
c.8952G>C (p.Met2984Ile)
c.8898G>C (p.Met2966Ile)
c.8868G>C (p.Met2956Ile)
c.8823G>C (p.Met2941Ile)
c.8418G>C (p.Met2806Ile)
c.7776G>C (p.Met2592Ile)
c.5286G>C (p.Met1762Ile)
10g.71809860G=CA1918889034CDH23c.8763G= (p.Met2921=)
c.2696G= (n.2696G=)
c.2360G= (n.2360G=)
c.8778G= (p.Met2926=)
c.2043G= (p.Met681=)
n.2299G=
c.8958G= (p.Met2986=)
c.8892G= (p.Met2964=)
c.8955G= (p.Met2985=)
c.8952G= (p.Met2984=)
c.8898G= (p.Met2966=)
c.8868G= (p.Met2956=)
c.8823G= (p.Met2941=)
c.8418G= (p.Met2806=)
c.7776G= (p.Met2592=)
c.5286G= (p.Met1762=)
10g.71809860G>TCA377133090CDH23c.8763G>T (p.Met2921Ile)
c.2696G>T (n.2696G>T)
c.2360G>T (n.2360G>T)
c.8778G>T (p.Met2926Ile)
c.2043G>T (p.Met681Ile)
n.2299G>T
c.8958G>T (p.Met2986Ile)
c.8892G>T (p.Met2964Ile)
c.8955G>T (p.Met2985Ile)
c.8952G>T (p.Met2984Ile)
c.8898G>T (p.Met2966Ile)
c.8868G>T (p.Met2956Ile)
c.8823G>T (p.Met2941Ile)
c.8418G>T (p.Met2806Ile)
c.7776G>T (p.Met2592Ile)
c.5286G>T (p.Met1762Ile)
10g.71809861delCA2695199536CDH23c.8764del (p.Ala2922ProfsTer30)
c.2697del (n.2697del)
c.2361del (n.2361del)
c.8779del (p.Ala2927ProfsTer30)
c.2044del (p.Ala682ProfsTer30)
n.2300del
c.8959del (p.Ala2987ProfsTer30)
c.8893del (p.Ala2965ProfsTer30)
c.8956del (p.Ala2986ProfsTer30)
c.8953del (p.Ala2985ProfsTer30)
c.8899del (p.Ala2967ProfsTer30)
c.8869del (p.Ala2957ProfsTer30)
c.8824del (p.Ala2942ProfsTer30)
c.8419del (p.Ala2807ProfsTer30)
c.7777del (p.Ala2593ProfsTer30)
c.5287del (p.Ala1763ProfsTer30)
 ClinVar
10g.71809861G>ACA377133092CDH23c.8764G>A (p.Ala2922Thr)
c.2697G>A (n.2697G>A)
c.2361G>A (n.2361G>A)
c.8779G>A (p.Ala2927Thr)
c.2044G>A (p.Ala682Thr)
n.2300G>A
c.8959G>A (p.Ala2987Thr)
c.8893G>A (p.Ala2965Thr)
c.8956G>A (p.Ala2986Thr)
c.8953G>A (p.Ala2985Thr)
c.8899G>A (p.Ala2967Thr)
c.8869G>A (p.Ala2957Thr)
c.8824G>A (p.Ala2942Thr)
c.8419G>A (p.Ala2807Thr)
c.7777G>A (p.Ala2593Thr)
c.5287G>A (p.Ala1763Thr)
10g.71809861G>CCA377133093CDH23c.8764G>C (p.Ala2922Pro)
c.2697G>C (n.2697G>C)
c.2361G>C (n.2361G>C)
c.8779G>C (p.Ala2927Pro)
c.2044G>C (p.Ala682Pro)
n.2300G>C
c.8959G>C (p.Ala2987Pro)
c.8893G>C (p.Ala2965Pro)
c.8956G>C (p.Ala2986Pro)
c.8953G>C (p.Ala2985Pro)
c.8899G>C (p.Ala2967Pro)
c.8869G>C (p.Ala2957Pro)
c.8824G>C (p.Ala2942Pro)
c.8419G>C (p.Ala2807Pro)
c.7777G>C (p.Ala2593Pro)
c.5287G>C (p.Ala1763Pro)
10g.71809861G>TCA377133094CDH23c.8764G>T (p.Ala2922Ser)
c.2697G>T (n.2697G>T)
c.2361G>T (n.2361G>T)
c.8779G>T (p.Ala2927Ser)
c.2044G>T (p.Ala682Ser)
n.2300G>T
c.8959G>T (p.Ala2987Ser)
c.8893G>T (p.Ala2965Ser)
c.8956G>T (p.Ala2986Ser)
c.8953G>T (p.Ala2985Ser)
c.8899G>T (p.Ala2967Ser)
c.8869G>T (p.Ala2957Ser)
c.8824G>T (p.Ala2942Ser)
c.8419G>T (p.Ala2807Ser)
c.7777G>T (p.Ala2593Ser)
c.5287G>T (p.Ala1763Ser)
10g.71809861_71809862insACTTGGCGGTACGCA918704190CDH23c.8764_8765insACTTGGCGGTACG (p.Ala2922AspfsTer?)
c.2697_2698insACTTGGCGGTACG (n.2697_2698insACTTGGCGGTACG)
c.2361_2362insACTTGGCGGTACG (n.2361_2362insACTTGGCGGTACG)
c.8779_8780insACTTGGCGGTACG (p.Ala2927AspfsTer?)
c.2044_2045insACTTGGCGGTACG (p.Ala682AspfsTer?)
n.2300_2301insACTTGGCGGTACG
c.8959_8960insACTTGGCGGTACG (p.Ala2987AspfsTer?)
c.8893_8894insACTTGGCGGTACG (p.Ala2965AspfsTer?)
c.8956_8957insACTTGGCGGTACG (p.Ala2986AspfsTer?)
c.8953_8954insACTTGGCGGTACG (p.Ala2985AspfsTer?)
c.8899_8900insACTTGGCGGTACG (p.Ala2967AspfsTer?)
c.8869_8870insACTTGGCGGTACG (p.Ala2957AspfsTer?)
c.8824_8825insACTTGGCGGTACG (p.Ala2942AspfsTer?)
c.8419_8420insACTTGGCGGTACG (p.Ala2807AspfsTer?)
c.7777_7778insACTTGGCGGTACG (p.Ala2593AspfsTer?)
c.5287_5288insACTTGGCGGTACG (p.Ala1763AspfsTer?)
 dbSNP
10g.71809862C>ACA377133095CDH23c.8765C>A (p.Ala2922Asp)
c.2698C>A (n.2698C>A)
c.2362C>A (n.2362C>A)
c.8780C>A (p.Ala2927Asp)
c.2045C>A (p.Ala682Asp)
n.2301C>A
c.8960C>A (p.Ala2987Asp)
c.8894C>A (p.Ala2965Asp)
c.8957C>A (p.Ala2986Asp)
c.8954C>A (p.Ala2985Asp)
c.8900C>A (p.Ala2967Asp)
c.8870C>A (p.Ala2957Asp)
c.8825C>A (p.Ala2942Asp)
c.8420C>A (p.Ala2807Asp)
c.7778C>A (p.Ala2593Asp)
c.5288C>A (p.Ala1763Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.71809862C=CA1918889036CDH23c.8765C= (p.Ala2922=)
c.2698C= (n.2698C=)
c.2362C= (n.2362C=)
c.8780C= (p.Ala2927=)
c.2045C= (p.Ala682=)
n.2301C=
c.8960C= (p.Ala2987=)
c.8894C= (p.Ala2965=)
c.8957C= (p.Ala2986=)
c.8954C= (p.Ala2985=)
c.8900C= (p.Ala2967=)
c.8870C= (p.Ala2957=)
c.8825C= (p.Ala2942=)
c.8420C= (p.Ala2807=)
c.7778C= (p.Ala2593=)
c.5288C= (p.Ala1763=)
10g.71809862C>GCA377133096CDH23c.8765C>G (p.Ala2922Gly)
c.2698C>G (n.2698C>G)
c.2362C>G (n.2362C>G)
c.8780C>G (p.Ala2927Gly)
c.2045C>G (p.Ala682Gly)
n.2301C>G
c.8960C>G (p.Ala2987Gly)
c.8894C>G (p.Ala2965Gly)
c.8957C>G (p.Ala2986Gly)
c.8954C>G (p.Ala2985Gly)
c.8900C>G (p.Ala2967Gly)
c.8870C>G (p.Ala2957Gly)
c.8825C>G (p.Ala2942Gly)
c.8420C>G (p.Ala2807Gly)
c.7778C>G (p.Ala2593Gly)
c.5288C>G (p.Ala1763Gly)
10g.71809862C>TCA5546747CDH23c.8765C>T (p.Ala2922Val)
c.2698C>T (n.2698C>T)
c.2362C>T (n.2362C>T)
c.8780C>T (p.Ala2927Val)
c.2045C>T (p.Ala682Val)
n.2301C>T
c.8960C>T (p.Ala2987Val)
c.8894C>T (p.Ala2965Val)
c.8957C>T (p.Ala2986Val)
c.8954C>T (p.Ala2985Val)
c.8900C>T (p.Ala2967Val)
c.8870C>T (p.Ala2957Val)
c.8825C>T (p.Ala2942Val)
c.8420C>T (p.Ala2807Val)
c.7778C>T (p.Ala2593Val)
c.5288C>T (p.Ala1763Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809863C>ACA470282493CDH23c.8766C>A (p.Ala2922=)
c.2699C>A (n.2699C>A)
c.2363C>A (n.2363C>A)
c.8781C>A (p.Ala2927=)
c.2046C>A (p.Ala682=)
n.2302C>A
c.8961C>A (p.Ala2987=)
c.8895C>A (p.Ala2965=)
c.8958C>A (p.Ala2986=)
c.8955C>A (p.Ala2985=)
c.8901C>A (p.Ala2967=)
c.8871C>A (p.Ala2957=)
c.8826C>A (p.Ala2942=)
c.8421C>A (p.Ala2807=)
c.7779C>A (p.Ala2593=)
c.5289C>A (p.Ala1763=)
10g.71809863C=CA1918889038CDH23c.8766C= (p.Ala2922=)
c.2699C= (n.2699C=)
c.2363C= (n.2363C=)
c.8781C= (p.Ala2927=)
c.2046C= (p.Ala682=)
n.2302C=
c.8961C= (p.Ala2987=)
c.8895C= (p.Ala2965=)
c.8958C= (p.Ala2986=)
c.8955C= (p.Ala2985=)
c.8901C= (p.Ala2967=)
c.8871C= (p.Ala2957=)
c.8826C= (p.Ala2942=)
c.8421C= (p.Ala2807=)
c.7779C= (p.Ala2593=)
c.5289C= (p.Ala1763=)
10g.71809863C>GCA470282494CDH23c.8766C>G (p.Ala2922=)
c.2699C>G (n.2699C>G)
c.2363C>G (n.2363C>G)
c.8781C>G (p.Ala2927=)
c.2046C>G (p.Ala682=)
n.2302C>G
c.8961C>G (p.Ala2987=)
c.8895C>G (p.Ala2965=)
c.8958C>G (p.Ala2986=)
c.8955C>G (p.Ala2985=)
c.8901C>G (p.Ala2967=)
c.8871C>G (p.Ala2957=)
c.8826C>G (p.Ala2942=)
c.8421C>G (p.Ala2807=)
c.7779C>G (p.Ala2593=)
c.5289C>G (p.Ala1763=)
 ClinVar dbSNP
10g.71809863C>TCA5546748CDH23c.8766C>T (p.Ala2922=)
c.2699C>T (n.2699C>T)
c.2363C>T (n.2363C>T)
c.8781C>T (p.Ala2927=)
c.2046C>T (p.Ala682=)
n.2302C>T
c.8961C>T (p.Ala2987=)
c.8895C>T (p.Ala2965=)
c.8958C>T (p.Ala2986=)
c.8955C>T (p.Ala2985=)
c.8901C>T (p.Ala2967=)
c.8871C>T (p.Ala2957=)
c.8826C>T (p.Ala2942=)
c.8421C>T (p.Ala2807=)
c.7779C>T (p.Ala2593=)
c.5289C>T (p.Ala1763=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809864T>ACA377133097CDH23c.8767T>A (p.Tyr2923Asn)
c.2700T>A (n.2700T>A)
c.2364T>A (n.2364T>A)
c.8782T>A (p.Tyr2928Asn)
c.2047T>A (p.Tyr683Asn)
n.2303T>A
c.8962T>A (p.Tyr2988Asn)
c.8896T>A (p.Tyr2966Asn)
c.8959T>A (p.Tyr2987Asn)
c.8956T>A (p.Tyr2986Asn)
c.8902T>A (p.Tyr2968Asn)
c.8872T>A (p.Tyr2958Asn)
c.8827T>A (p.Tyr2943Asn)
c.8422T>A (p.Tyr2808Asn)
c.7780T>A (p.Tyr2594Asn)
c.5290T>A (p.Tyr1764Asn)
10g.71809864T>CCA377133098CDH23c.8767T>C (p.Tyr2923His)
c.2700T>C (n.2700T>C)
c.2364T>C (n.2364T>C)
c.8782T>C (p.Tyr2928His)
c.2047T>C (p.Tyr683His)
n.2303T>C
c.8962T>C (p.Tyr2988His)
c.8896T>C (p.Tyr2966His)
c.8959T>C (p.Tyr2987His)
c.8956T>C (p.Tyr2986His)
c.8902T>C (p.Tyr2968His)
c.8872T>C (p.Tyr2958His)
c.8827T>C (p.Tyr2943His)
c.8422T>C (p.Tyr2808His)
c.7780T>C (p.Tyr2594His)
c.5290T>C (p.Tyr1764His)
 gnomAD v4
10g.71809864T>GCA377133099CDH23c.8767T>G (p.Tyr2923Asp)
c.2700T>G (n.2700T>G)
c.2364T>G (n.2364T>G)
c.8782T>G (p.Tyr2928Asp)
c.2047T>G (p.Tyr683Asp)
n.2303T>G
c.8962T>G (p.Tyr2988Asp)
c.8896T>G (p.Tyr2966Asp)
c.8959T>G (p.Tyr2987Asp)
c.8956T>G (p.Tyr2986Asp)
c.8902T>G (p.Tyr2968Asp)
c.8872T>G (p.Tyr2958Asp)
c.8827T>G (p.Tyr2943Asp)
c.8422T>G (p.Tyr2808Asp)
c.7780T>G (p.Tyr2594Asp)
c.5290T>G (p.Tyr1764Asp)
10g.71809864T=CA1918889040CDH23c.8767T= (p.Tyr2923=)
c.2700T= (n.2700T=)
c.2364T= (n.2364T=)
c.8782T= (p.Tyr2928=)
c.2047T= (p.Tyr683=)
n.2303T=
c.8962T= (p.Tyr2988=)
c.8896T= (p.Tyr2966=)
c.8959T= (p.Tyr2987=)
c.8956T= (p.Tyr2986=)
c.8902T= (p.Tyr2968=)
c.8872T= (p.Tyr2958=)
c.8827T= (p.Tyr2943=)
c.8422T= (p.Tyr2808=)
c.7780T= (p.Tyr2594=)
c.5290T= (p.Tyr1764=)
10g.71809864_71809865insCTCCGGTCAGTTGGGCTTGGATCTGGTCACA918704192CDH23c.8767_8768insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2923SerfsTer39)
c.2700_2701insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (n.2700_2701insCTCCGGTCAGTTGGGCTTGGATCTGGTCA)
c.2364_2365insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (n.2364_2365insCTCCGGTCAGTTGGGCTTGGATCTGGTCA)
c.8782_8783insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2928SerfsTer39)
c.2047_2048insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr683SerfsTer39)
n.2303_2304insCTCCGGTCAGTTGGGCTTGGATCTGGTCA
c.8962_8963insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2988SerfsTer39)
c.8896_8897insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2966SerfsTer39)
c.8959_8960insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2987SerfsTer39)
c.8956_8957insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2986SerfsTer39)
c.8902_8903insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2968SerfsTer39)
c.8872_8873insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2958SerfsTer39)
c.8827_8828insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2943SerfsTer39)
c.8422_8423insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2808SerfsTer39)
c.7780_7781insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr2594SerfsTer39)
c.5290_5291insCTCCGGTCAGTTGGGCTTGGATCTGGTCA (p.Tyr1764SerfsTer39)
 dbSNP
10g.71809864_71809865insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACGCA2551587427CDH23c.8767_8768insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2923SerfsTer40)
c.2700_2701insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (n.2700_2701insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG)
c.2364_2365insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (n.2364_2365insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG)
c.8782_8783insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2928SerfsTer40)
c.2047_2048insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr683SerfsTer40)
n.2303_2304insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG
c.8962_8963insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2988SerfsTer40)
c.8896_8897insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2966SerfsTer40)
c.8959_8960insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2987SerfsTer40)
c.8956_8957insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2986SerfsTer40)
c.8902_8903insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2968SerfsTer40)
c.8872_8873insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2958SerfsTer40)
c.8827_8828insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2943SerfsTer40)
c.8422_8423insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2808SerfsTer40)
c.7780_7781insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr2594SerfsTer40)
c.5290_5291insCTCCGGTCAGTTGGGCTTGGATTTGGTCAACG (p.Tyr1764SerfsTer40)
10g.71809865A>CCA377133100CDH23c.8768A>C (p.Tyr2923Ser)
c.2701A>C (n.2701A>C)
c.2365A>C (n.2365A>C)
c.8783A>C (p.Tyr2928Ser)
c.2048A>C (p.Tyr683Ser)
n.2304A>C
c.8963A>C (p.Tyr2988Ser)
c.8897A>C (p.Tyr2966Ser)
c.8960A>C (p.Tyr2987Ser)
c.8957A>C (p.Tyr2986Ser)
c.8903A>C (p.Tyr2968Ser)
c.8873A>C (p.Tyr2958Ser)
c.8828A>C (p.Tyr2943Ser)
c.8423A>C (p.Tyr2808Ser)
c.7781A>C (p.Tyr2594Ser)
c.5291A>C (p.Tyr1764Ser)
10g.71809865A>GCA377133101CDH23c.8768A>G (p.Tyr2923Cys)
c.2701A>G (n.2701A>G)
c.2365A>G (n.2365A>G)
c.8783A>G (p.Tyr2928Cys)
c.2048A>G (p.Tyr683Cys)
n.2304A>G
c.8963A>G (p.Tyr2988Cys)
c.8897A>G (p.Tyr2966Cys)
c.8960A>G (p.Tyr2987Cys)
c.8957A>G (p.Tyr2986Cys)
c.8903A>G (p.Tyr2968Cys)
c.8873A>G (p.Tyr2958Cys)
c.8828A>G (p.Tyr2943Cys)
c.8423A>G (p.Tyr2808Cys)
c.7781A>G (p.Tyr2594Cys)
c.5291A>G (p.Tyr1764Cys)
10g.71809865A>TCA377133102CDH23c.8768A>T (p.Tyr2923Phe)
c.2701A>T (n.2701A>T)
c.2365A>T (n.2365A>T)
c.8783A>T (p.Tyr2928Phe)
c.2048A>T (p.Tyr683Phe)
n.2304A>T
c.8963A>T (p.Tyr2988Phe)
c.8897A>T (p.Tyr2966Phe)
c.8960A>T (p.Tyr2987Phe)
c.8957A>T (p.Tyr2986Phe)
c.8903A>T (p.Tyr2968Phe)
c.8873A>T (p.Tyr2958Phe)
c.8828A>T (p.Tyr2943Phe)
c.8423A>T (p.Tyr2808Phe)
c.7781A>T (p.Tyr2594Phe)
c.5291A>T (p.Tyr1764Phe)
10g.71809866C>ACA377133104CDH23c.8769C>A (p.Tyr2923Ter)
c.2702C>A (n.2702C>A)
c.2366C>A (n.2366C>A)
c.8784C>A (p.Tyr2928Ter)
c.2049C>A (p.Tyr683Ter)
n.2305C>A
c.8964C>A (p.Tyr2988Ter)
c.8898C>A (p.Tyr2966Ter)
c.8961C>A (p.Tyr2987Ter)
c.8958C>A (p.Tyr2986Ter)
c.8904C>A (p.Tyr2968Ter)
c.8874C>A (p.Tyr2958Ter)
c.8829C>A (p.Tyr2943Ter)
c.8424C>A (p.Tyr2808Ter)
c.7782C>A (p.Tyr2594Ter)
c.5292C>A (p.Tyr1764Ter)
10g.71809866C=CA1918889042CDH23c.8769C= (p.Tyr2923=)
c.2702C= (n.2702C=)
c.2366C= (n.2366C=)
c.8784C= (p.Tyr2928=)
c.2049C= (p.Tyr683=)
n.2305C=
c.8964C= (p.Tyr2988=)
c.8898C= (p.Tyr2966=)
c.8961C= (p.Tyr2987=)
c.8958C= (p.Tyr2986=)
c.8904C= (p.Tyr2968=)
c.8874C= (p.Tyr2958=)
c.8829C= (p.Tyr2943=)
c.8424C= (p.Tyr2808=)
c.7782C= (p.Tyr2594=)
c.5292C= (p.Tyr1764=)
10g.71809866C>GCA377133103CDH23c.8769C>G (p.Tyr2923Ter)
c.2702C>G (n.2702C>G)
c.2366C>G (n.2366C>G)
c.8784C>G (p.Tyr2928Ter)
c.2049C>G (p.Tyr683Ter)
n.2305C>G
c.8964C>G (p.Tyr2988Ter)
c.8898C>G (p.Tyr2966Ter)
c.8961C>G (p.Tyr2987Ter)
c.8958C>G (p.Tyr2986Ter)
c.8904C>G (p.Tyr2968Ter)
c.8874C>G (p.Tyr2958Ter)
c.8829C>G (p.Tyr2943Ter)
c.8424C>G (p.Tyr2808Ter)
c.7782C>G (p.Tyr2594Ter)
c.5292C>G (p.Tyr1764Ter)
10g.71809866C>TCA470282498CDH23c.8769C>T (p.Tyr2923=)
c.2702C>T (n.2702C>T)
c.2366C>T (n.2366C>T)
c.8784C>T (p.Tyr2928=)
c.2049C>T (p.Tyr683=)
n.2305C>T
c.8964C>T (p.Tyr2988=)
c.8898C>T (p.Tyr2966=)
c.8961C>T (p.Tyr2987=)
c.8958C>T (p.Tyr2986=)
c.8904C>T (p.Tyr2968=)
c.8874C>T (p.Tyr2958=)
c.8829C>T (p.Tyr2943=)
c.8424C>T (p.Tyr2808=)
c.7782C>T (p.Tyr2594=)
c.5292C>T (p.Tyr1764=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71809867A>CCA377133105CDH23c.8770A>C (p.Ser2924Arg)
c.2703A>C (n.2703A>C)
c.2367A>C (n.2367A>C)
c.8785A>C (p.Ser2929Arg)
c.2050A>C (p.Ser684Arg)
n.2306A>C
c.8965A>C (p.Ser2989Arg)
c.8899A>C (p.Ser2967Arg)
c.8962A>C (p.Ser2988Arg)
c.8959A>C (p.Ser2987Arg)
c.8905A>C (p.Ser2969Arg)
c.8875A>C (p.Ser2959Arg)
c.8830A>C (p.Ser2944Arg)
c.8425A>C (p.Ser2809Arg)
c.7783A>C (p.Ser2595Arg)
c.5293A>C (p.Ser1765Arg)
10g.71809867A>GCA377133106CDH23c.8770A>G (p.Ser2924Gly)
c.2703A>G (n.2703A>G)
c.2367A>G (n.2367A>G)
c.8785A>G (p.Ser2929Gly)
c.2050A>G (p.Ser684Gly)
n.2306A>G
c.8965A>G (p.Ser2989Gly)
c.8899A>G (p.Ser2967Gly)
c.8962A>G (p.Ser2988Gly)
c.8959A>G (p.Ser2987Gly)
c.8905A>G (p.Ser2969Gly)
c.8875A>G (p.Ser2959Gly)
c.8830A>G (p.Ser2944Gly)
c.8425A>G (p.Ser2809Gly)
c.7783A>G (p.Ser2595Gly)
c.5293A>G (p.Ser1765Gly)
 gnomAD v4
10g.71809867A>TCA377133107CDH23c.8770A>T (p.Ser2924Cys)
c.2703A>T (n.2703A>T)
c.2367A>T (n.2367A>T)
c.8785A>T (p.Ser2929Cys)
c.2050A>T (p.Ser684Cys)
n.2306A>T
c.8965A>T (p.Ser2989Cys)
c.8899A>T (p.Ser2967Cys)
c.8962A>T (p.Ser2988Cys)
c.8959A>T (p.Ser2987Cys)
c.8905A>T (p.Ser2969Cys)
c.8875A>T (p.Ser2959Cys)
c.8830A>T (p.Ser2944Cys)
c.8425A>T (p.Ser2809Cys)
c.7783A>T (p.Ser2595Cys)
c.5293A>T (p.Ser1765Cys)
10g.71809867_71809868insTGGCTGTACA16618984CDH23c.8770_8771insTGGCTGTA (p.Ser2924MetfsTer31)
c.2703_2704insTGGCTGTA (n.2703_2704insTGGCTGTA)
c.2367_2368insTGGCTGTA (n.2367_2368insTGGCTGTA)
c.8785_8786insTGGCTGTA (p.Ser2929MetfsTer31)
c.2050_2051insTGGCTGTA (p.Ser684MetfsTer31)
n.2306_2307insTGGCTGTA
c.8965_8966insTGGCTGTA (p.Ser2989MetfsTer31)
c.8899_8900insTGGCTGTA (p.Ser2967MetfsTer31)
c.8962_8963insTGGCTGTA (p.Ser2988MetfsTer31)
c.8959_8960insTGGCTGTA (p.Ser2987MetfsTer31)
c.8905_8906insTGGCTGTA (p.Ser2969MetfsTer31)
c.8875_8876insTGGCTGTA (p.Ser2959MetfsTer31)
c.8830_8831insTGGCTGTA (p.Ser2944MetfsTer31)
c.8425_8426insTGGCTGTA (p.Ser2809MetfsTer31)
c.7783_7784insTGGCTGTA (p.Ser2595MetfsTer31)
c.5293_5294insTGGCTGTA (p.Ser1765MetfsTer31)
 ClinVar dbSNP
10g.71809867_71809868insAAATGGAAGAAGTTTCTACCCAATGCA2538400465CDH23c.8770_8771insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2924LysfsTer?)
c.2703_2704insAAATGGAAGAAGTTTCTACCCAATG (n.2703_2704insAAATGGAAGAAGTTTCTACCCAATG)
c.2367_2368insAAATGGAAGAAGTTTCTACCCAATG (n.2367_2368insAAATGGAAGAAGTTTCTACCCAATG)
c.8785_8786insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2929LysfsTer?)
c.2050_2051insAAATGGAAGAAGTTTCTACCCAATG (p.Ser684LysfsTer?)
n.2306_2307insAAATGGAAGAAGTTTCTACCCAATG
c.8965_8966insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2989LysfsTer?)
c.8899_8900insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2967LysfsTer?)
c.8962_8963insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2988LysfsTer?)
c.8959_8960insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2987LysfsTer?)
c.8905_8906insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2969LysfsTer?)
c.8875_8876insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2959LysfsTer?)
c.8830_8831insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2944LysfsTer?)
c.8425_8426insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2809LysfsTer?)
c.7783_7784insAAATGGAAGAAGTTTCTACCCAATG (p.Ser2595LysfsTer?)
c.5293_5294insAAATGGAAGAAGTTTCTACCCAATG (p.Ser1765LysfsTer?)
10g.71809868G>ACA377133108CDH23c.8771G>A (p.Ser2924Asn)
c.2704G>A (n.2704G>A)
c.2368G>A (n.2368G>A)
c.8786G>A (p.Ser2929Asn)
c.2051G>A (p.Ser684Asn)
n.2307G>A
c.8966G>A (p.Ser2989Asn)
c.8900G>A (p.Ser2967Asn)
c.8963G>A (p.Ser2988Asn)
c.8960G>A (p.Ser2987Asn)
c.8906G>A (p.Ser2969Asn)
c.8876G>A (p.Ser2959Asn)
c.8831G>A (p.Ser2944Asn)
c.8426G>A (p.Ser2809Asn)
c.7784G>A (p.Ser2595Asn)
c.5294G>A (p.Ser1765Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.71809868G>CCA377133109CDH23c.8771G>C (p.Ser2924Thr)
c.2704G>C (n.2704G>C)
c.2368G>C (n.2368G>C)
c.8786G>C (p.Ser2929Thr)
c.2051G>C (p.Ser684Thr)
n.2307G>C
c.8966G>C (p.Ser2989Thr)
c.8900G>C (p.Ser2967Thr)
c.8963G>C (p.Ser2988Thr)
c.8960G>C (p.Ser2987Thr)
c.8906G>C (p.Ser2969Thr)
c.8876G>C (p.Ser2959Thr)
c.8831G>C (p.Ser2944Thr)
c.8426G>C (p.Ser2809Thr)
c.7784G>C (p.Ser2595Thr)
c.5294G>C (p.Ser1765Thr)
 gnomAD v4
10g.71809868G=CA1918889044CDH23c.8771G= (p.Ser2924=)
c.2704G= (n.2704G=)
c.2368G= (n.2368G=)
c.8786G= (p.Ser2929=)
c.2051G= (p.Ser684=)
n.2307G=
c.8966G= (p.Ser2989=)
c.8900G= (p.Ser2967=)
c.8963G= (p.Ser2988=)
c.8960G= (p.Ser2987=)
c.8906G= (p.Ser2969=)
c.8876G= (p.Ser2959=)
c.8831G= (p.Ser2944=)
c.8426G= (p.Ser2809=)
c.7784G= (p.Ser2595=)
c.5294G= (p.Ser1765=)
10g.71809868G>TCA377133110CDH23c.8771G>T (p.Ser2924Ile)
c.2704G>T (n.2704G>T)
c.2368G>T (n.2368G>T)
c.8786G>T (p.Ser2929Ile)
c.2051G>T (p.Ser684Ile)
n.2307G>T
c.8966G>T (p.Ser2989Ile)
c.8900G>T (p.Ser2967Ile)
c.8963G>T (p.Ser2988Ile)
c.8960G>T (p.Ser2987Ile)
c.8906G>T (p.Ser2969Ile)
c.8876G>T (p.Ser2959Ile)
c.8831G>T (p.Ser2944Ile)
c.8426G>T (p.Ser2809Ile)
c.7784G>T (p.Ser2595Ile)
c.5294G>T (p.Ser1765Ile)
10g.71809869C>ACA5546749CDH23c.8772C>A (p.Ser2924Arg)
c.2705C>A (n.2705C>A)
c.2369C>A (n.2369C>A)
c.8787C>A (p.Ser2929Arg)
c.2052C>A (p.Ser684Arg)
n.2308C>A
c.8967C>A (p.Ser2989Arg)
c.8901C>A (p.Ser2967Arg)
c.8964C>A (p.Ser2988Arg)
c.8961C>A (p.Ser2987Arg)
c.8907C>A (p.Ser2969Arg)
c.8877C>A (p.Ser2959Arg)
c.8832C>A (p.Ser2944Arg)
c.8427C>A (p.Ser2809Arg)
c.7785C>A (p.Ser2595Arg)
c.5295C>A (p.Ser1765Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71809869C=CA1918889046CDH23c.8772C= (p.Ser2924=)
c.2705C= (n.2705C=)
c.2369C= (n.2369C=)
c.8787C= (p.Ser2929=)
c.2052C= (p.Ser684=)
n.2308C=
c.8967C= (p.Ser2989=)
c.8901C= (p.Ser2967=)
c.8964C= (p.Ser2988=)
c.8961C= (p.Ser2987=)
c.8907C= (p.Ser2969=)
c.8877C= (p.Ser2959=)
c.8832C= (p.Ser2944=)
c.8427C= (p.Ser2809=)
c.7785C= (p.Ser2595=)
c.5295C= (p.Ser1765=)
10g.71809869C>GCA377133111CDH23c.8772C>G (p.Ser2924Arg)
c.2705C>G (n.2705C>G)
c.2369C>G (n.2369C>G)
c.8787C>G (p.Ser2929Arg)
c.2052C>G (p.Ser684Arg)
n.2308C>G
c.8967C>G (p.Ser2989Arg)
c.8901C>G (p.Ser2967Arg)
c.8964C>G (p.Ser2988Arg)
c.8961C>G (p.Ser2987Arg)
c.8907C>G (p.Ser2969Arg)
c.8877C>G (p.Ser2959Arg)
c.8832C>G (p.Ser2944Arg)
c.8427C>G (p.Ser2809Arg)
c.7785C>G (p.Ser2595Arg)
c.5295C>G (p.Ser1765Arg)
10g.71809869C>TCA470282502CDH23c.8772C>T (p.Ser2924=)
c.2705C>T (n.2705C>T)
c.2369C>T (n.2369C>T)
c.8787C>T (p.Ser2929=)
c.2052C>T (p.Ser684=)
n.2308C>T
c.8967C>T (p.Ser2989=)
c.8901C>T (p.Ser2967=)
c.8964C>T (p.Ser2988=)
c.8961C>T (p.Ser2987=)
c.8907C>T (p.Ser2969=)
c.8877C>T (p.Ser2959=)
c.8832C>T (p.Ser2944=)
c.8427C>T (p.Ser2809=)
c.7785C>T (p.Ser2595=)
c.5295C>T (p.Ser1765=)
10g.71809869_71809870insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGTCA2549649930CDH23c.8772_8773insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2925SerfsTer?)
c.2705_2706insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (n.2705_2706insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT)
c.2369_2370insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (n.2369_2370insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT)
c.8787_8788insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2930SerfsTer?)
c.2052_2053insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro685SerfsTer?)
n.2308_2309insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT
c.8967_8968insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2990SerfsTer?)
c.8901_8902insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2968SerfsTer?)
c.8964_8965insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2989SerfsTer?)
c.8961_8962insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2988SerfsTer?)
c.8907_8908insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2970SerfsTer?)
c.8877_8878insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2960SerfsTer?)
c.8832_8833insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2945SerfsTer?)
c.8427_8428insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2810SerfsTer?)
c.7785_7786insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro2596SerfsTer?)
c.5295_5296insTCAAAGACATTCGCAATTACGTCTTGGCGCGTCAGGAAGAAATGGTCAAAGT (p.Pro1766SerfsTer?)
10g.71809870C>ACA377133112CDH23c.8773C>A (p.Pro2925Thr)
c.2706C>A (n.2706C>A)
c.2370C>A (n.2370C>A)
c.8788C>A (p.Pro2930Thr)
c.2053C>A (p.Pro685Thr)
n.2309C>A
c.8968C>A (p.Pro2990Thr)
c.8902C>A (p.Pro2968Thr)
c.8965C>A (p.Pro2989Thr)
c.8962C>A (p.Pro2988Thr)
c.8908C>A (p.Pro2970Thr)
c.8878C>A (p.Pro2960Thr)
c.8833C>A (p.Pro2945Thr)
c.8428C>A (p.Pro2810Thr)
c.7786C>A (p.Pro2596Thr)
c.5296C>A (p.Pro1766Thr)
10g.71809870C>GCA377133114CDH23c.8773C>G (p.Pro2925Ala)
c.2706C>G (n.2706C>G)
c.2370C>G (n.2370C>G)
c.8788C>G (p.Pro2930Ala)
c.2053C>G (p.Pro685Ala)
n.2309C>G
c.8968C>G (p.Pro2990Ala)
c.8902C>G (p.Pro2968Ala)
c.8965C>G (p.Pro2989Ala)
c.8962C>G (p.Pro2988Ala)
c.8908C>G (p.Pro2970Ala)
c.8878C>G (p.Pro2960Ala)
c.8833C>G (p.Pro2945Ala)
c.8428C>G (p.Pro2810Ala)
c.7786C>G (p.Pro2596Ala)
c.5296C>G (p.Pro1766Ala)
10g.71809870C>TCA377133116CDH23c.8773C>T (p.Pro2925Ser)
c.2706C>T (n.2706C>T)
c.2370C>T (n.2370C>T)
c.8788C>T (p.Pro2930Ser)
c.2053C>T (p.Pro685Ser)
n.2309C>T
c.8968C>T (p.Pro2990Ser)
c.8902C>T (p.Pro2968Ser)
c.8965C>T (p.Pro2989Ser)
c.8962C>T (p.Pro2988Ser)
c.8908C>T (p.Pro2970Ser)
c.8878C>T (p.Pro2960Ser)
c.8833C>T (p.Pro2945Ser)
c.8428C>T (p.Pro2810Ser)
c.7786C>T (p.Pro2596Ser)
c.5296C>T (p.Pro1766Ser)
 gnomAD v4
10g.71809871C>ACA377133118CDH23c.8774C>A (p.Pro2925His)
c.2707C>A (n.2707C>A)
c.2371C>A (n.2371C>A)
c.8789C>A (p.Pro2930His)
c.2054C>A (p.Pro685His)
n.2310C>A
c.8969C>A (p.Pro2990His)
c.8903C>A (p.Pro2968His)
c.8966C>A (p.Pro2989His)
c.8963C>A (p.Pro2988His)
c.8909C>A (p.Pro2970His)
c.8879C>A (p.Pro2960His)
c.8834C>A (p.Pro2945His)
c.8429C>A (p.Pro2810His)
c.7787C>A (p.Pro2596His)
c.5297C>A (p.Pro1766His)
10g.71809871C=CA1918889048CDH23c.8774C= (p.Pro2925=)
c.2707C= (n.2707C=)
c.2371C= (n.2371C=)
c.8789C= (p.Pro2930=)
c.2054C= (p.Pro685=)
n.2310C=
c.8969C= (p.Pro2990=)
c.8903C= (p.Pro2968=)
c.8966C= (p.Pro2989=)
c.8963C= (p.Pro2988=)
c.8909C= (p.Pro2970=)
c.8879C= (p.Pro2960=)
c.8834C= (p.Pro2945=)
c.8429C= (p.Pro2810=)
c.7787C= (p.Pro2596=)
c.5297C= (p.Pro1766=)
10g.71809871C>GCA377133120CDH23c.8774C>G (p.Pro2925Arg)
c.2707C>G (n.2707C>G)
c.2371C>G (n.2371C>G)
c.8789C>G (p.Pro2930Arg)
c.2054C>G (p.Pro685Arg)
n.2310C>G
c.8969C>G (p.Pro2990Arg)
c.8903C>G (p.Pro2968Arg)
c.8966C>G (p.Pro2989Arg)
c.8963C>G (p.Pro2988Arg)
c.8909C>G (p.Pro2970Arg)
c.8879C>G (p.Pro2960Arg)
c.8834C>G (p.Pro2945Arg)
c.8429C>G (p.Pro2810Arg)
c.7787C>G (p.Pro2596Arg)
c.5297C>G (p.Pro1766Arg)
10g.71809871C>TCA5546750CDH23c.8774C>T (p.Pro2925Leu)
c.2707C>T (n.2707C>T)
c.2371C>T (n.2371C>T)
c.8789C>T (p.Pro2930Leu)
c.2054C>T (p.Pro685Leu)
n.2310C>T
c.8969C>T (p.Pro2990Leu)
c.8903C>T (p.Pro2968Leu)
c.8966C>T (p.Pro2989Leu)
c.8963C>T (p.Pro2988Leu)
c.8909C>T (p.Pro2970Leu)
c.8879C>T (p.Pro2960Leu)
c.8834C>T (p.Pro2945Leu)
c.8429C>T (p.Pro2810Leu)
c.7787C>T (p.Pro2596Leu)
c.5297C>T (p.Pro1766Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71809872C>ACA470282505CDH23c.8775C>A (p.Pro2925=)
c.2708C>A (n.2708C>A)
c.2372C>A (n.2372C>A)
c.8790C>A (p.Pro2930=)
c.2055C>A (p.Pro685=)
n.2311C>A
c.8970C>A (p.Pro2990=)
c.8904C>A (p.Pro2968=)
c.8967C>A (p.Pro2989=)
c.8964C>A (p.Pro2988=)
c.8910C>A (p.Pro2970=)
c.8880C>A (p.Pro2960=)
c.8835C>A (p.Pro2945=)
c.8430C>A (p.Pro2810=)
c.7788C>A (p.Pro2596=)
c.5298C>A (p.Pro1766=)
 dbSNP gnomAD v3 gnomAD v4
10g.71809872C=CA1918889051CDH23c.8775C= (p.Pro2925=)
c.2708C= (n.2708C=)
c.2372C= (n.2372C=)
c.8790C= (p.Pro2930=)
c.2055C= (p.Pro685=)
n.2311C=
c.8970C= (p.Pro2990=)
c.8904C= (p.Pro2968=)
c.8967C= (p.Pro2989=)
c.8964C= (p.Pro2988=)
c.8910C= (p.Pro2970=)
c.8880C= (p.Pro2960=)
c.8835C= (p.Pro2945=)
c.8430C= (p.Pro2810=)
c.7788C= (p.Pro2596=)
c.5298C= (p.Pro1766=)
10g.71809872C>GCA470282507CDH23c.8775C>G (p.Pro2925=)
c.2708C>G (n.2708C>G)
c.2372C>G (n.2372C>G)
c.8790C>G (p.Pro2930=)
c.2055C>G (p.Pro685=)
n.2311C>G
c.8970C>G (p.Pro2990=)
c.8904C>G (p.Pro2968=)
c.8967C>G (p.Pro2989=)
c.8964C>G (p.Pro2988=)
c.8910C>G (p.Pro2970=)
c.8880C>G (p.Pro2960=)
c.8835C>G (p.Pro2945=)
c.8430C>G (p.Pro2810=)
c.7788C>G (p.Pro2596=)
c.5298C>G (p.Pro1766=)
10g.71809872C>TCA5546751CDH23c.8775C>T (p.Pro2925=)
c.2708C>T (n.2708C>T)
c.2372C>T (n.2372C>T)
c.8790C>T (p.Pro2930=)
c.2055C>T (p.Pro685=)
n.2311C>T
c.8970C>T (p.Pro2990=)
c.8904C>T (p.Pro2968=)
c.8967C>T (p.Pro2989=)
c.8964C>T (p.Pro2988=)
c.8910C>T (p.Pro2970=)
c.8880C>T (p.Pro2960=)
c.8835C>T (p.Pro2945=)
c.8430C>T (p.Pro2810=)
c.7788C>T (p.Pro2596=)
c.5298C>T (p.Pro1766=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71809873G>ACA5546752CDH23c.8776G>A (p.Gly2926Ser)
c.2709G>A (n.2709G>A)
c.2373G>A (n.2373G>A)
c.8791G>A (p.Gly2931Ser)
c.2056G>A (p.Gly686Ser)
n.2312G>A
c.8971G>A (p.Gly2991Ser)
c.8905G>A (p.Gly2969Ser)
c.8968G>A (p.Gly2990Ser)
c.8965G>A (p.Gly2989Ser)
c.8911G>A (p.Gly2971Ser)
c.8881G>A (p.Gly2961Ser)
c.8836G>A (p.Gly2946Ser)
c.8431G>A (p.Gly2811Ser)
c.7789G>A (p.Gly2597Ser)
c.5299G>A (p.Gly1767Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71809873G>CCA377133124CDH23c.8776G>C (p.Gly2926Arg)
c.2709G>C (n.2709G>C)
c.2373G>C (n.2373G>C)
c.8791G>C (p.Gly2931Arg)
c.2056G>C (p.Gly686Arg)
n.2312G>C
c.8971G>C (p.Gly2991Arg)
c.8905G>C (p.Gly2969Arg)
c.8968G>C (p.Gly2990Arg)
c.8965G>C (p.Gly2989Arg)
c.8911G>C (p.Gly2971Arg)
c.8881G>C (p.Gly2961Arg)
c.8836G>C (p.Gly2946Arg)
c.8431G>C (p.Gly2811Arg)
c.7789G>C (p.Gly2597Arg)
c.5299G>C (p.Gly1767Arg)
10g.71809873G=CA1918889055CDH23c.8776G= (p.Gly2926=)
c.2709G= (n.2709G=)
c.2373G= (n.2373G=)
c.8791G= (p.Gly2931=)
c.2056G= (p.Gly686=)
n.2312G=
c.8971G= (p.Gly2991=)
c.8905G= (p.Gly2969=)
c.8968G= (p.Gly2990=)
c.8965G= (p.Gly2989=)
c.8911G= (p.Gly2971=)
c.8881G= (p.Gly2961=)
c.8836G= (p.Gly2946=)
c.8431G= (p.Gly2811=)
c.7789G= (p.Gly2597=)
c.5299G= (p.Gly1767=)
10g.71809873G>TCA377133127CDH23c.8776G>T (p.Gly2926Cys)
c.2709G>T (n.2709G>T)
c.2373G>T (n.2373G>T)
c.8791G>T (p.Gly2931Cys)
c.2056G>T (p.Gly686Cys)
n.2312G>T
c.8971G>T (p.Gly2991Cys)
c.8905G>T (p.Gly2969Cys)
c.8968G>T (p.Gly2990Cys)
c.8965G>T (p.Gly2989Cys)
c.8911G>T (p.Gly2971Cys)
c.8881G>T (p.Gly2961Cys)
c.8836G>T (p.Gly2946Cys)
c.8431G>T (p.Gly2811Cys)
c.7789G>T (p.Gly2597Cys)
c.5299G>T (p.Gly1767Cys)
10g.71809874delCA2609588720CDH23c.8777del (p.Gly2926AlafsTer26)
c.2710del (n.2710del)
c.2374del (n.2374del)
c.8792del (p.Gly2931AlafsTer26)
c.2057del (p.Gly686AlafsTer26)
n.2313del
c.8972del (p.Gly2991AlafsTer26)
c.8906del (p.Gly2969AlafsTer26)
c.8969del (p.Gly2990AlafsTer26)
c.8966del (p.Gly2989AlafsTer26)
c.8912del (p.Gly2971AlafsTer26)
c.8882del (p.Gly2961AlafsTer26)
c.8837del (p.Gly2946AlafsTer26)
c.8432del (p.Gly2811AlafsTer26)
c.7790del (p.Gly2597AlafsTer26)
c.5300del (p.Gly1767AlafsTer26)
 gnomAD v4

Number of alleles fetched