Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71793171C>ACA2609580229CDH23c.6254-11C>A (n.6254-11C>A)
c.6269-11C>A (n.6269-11C>A)
c.6449-11C>A (n.6449-11C>A)
c.6383-11C>A (n.6383-11C>A)
c.6446-11C>A (n.6446-11C>A)
c.6443-11C>A (n.6443-11C>A)
c.6389-11C>A (n.6389-11C>A)
c.6314-11C>A (n.6314-11C>A)
c.5909-11C>A (n.5909-11C>A)
c.5267-11C>A (n.5267-11C>A)
c.2777-11C>A (n.2777-11C>A)
n.6692-11C>A
 gnomAD v4
10g.71793171C=CA1918874110CDH23c.6254-11C= (n.6254-11C=)
c.6269-11C= (n.6269-11C=)
c.6449-11C= (n.6449-11C=)
c.6383-11C= (n.6383-11C=)
c.6446-11C= (n.6446-11C=)
c.6443-11C= (n.6443-11C=)
c.6389-11C= (n.6389-11C=)
c.6314-11C= (n.6314-11C=)
c.5909-11C= (n.5909-11C=)
c.5267-11C= (n.5267-11C=)
c.2777-11C= (n.2777-11C=)
n.6692-11C=
10g.71793171C>TCA2609580230CDH23c.6254-11C>T (n.6254-11C>T)
c.6269-11C>T (n.6269-11C>T)
c.6449-11C>T (n.6449-11C>T)
c.6383-11C>T (n.6383-11C>T)
c.6446-11C>T (n.6446-11C>T)
c.6443-11C>T (n.6443-11C>T)
c.6389-11C>T (n.6389-11C>T)
c.6314-11C>T (n.6314-11C>T)
c.5909-11C>T (n.5909-11C>T)
c.5267-11C>T (n.5267-11C>T)
c.2777-11C>T (n.2777-11C>T)
n.6692-11C>T
 gnomAD v4
10g.71793171_71793172delinsCTCA1918874109CDH23c.6254-11_6254-10delinsCT (n.6254-11_6254-10delinsCT)
c.6269-11_6269-10delinsCT (n.6269-11_6269-10delinsCT)
c.6449-11_6449-10delinsCT (n.6449-11_6449-10delinsCT)
c.6383-11_6383-10delinsCT (n.6383-11_6383-10delinsCT)
c.6446-11_6446-10delinsCT (n.6446-11_6446-10delinsCT)
c.6443-11_6443-10delinsCT (n.6443-11_6443-10delinsCT)
c.6389-11_6389-10delinsCT (n.6389-11_6389-10delinsCT)
c.6314-11_6314-10delinsCT (n.6314-11_6314-10delinsCT)
c.5909-11_5909-10delinsCT (n.5909-11_5909-10delinsCT)
c.5267-11_5267-10delinsCT (n.5267-11_5267-10delinsCT)
c.2777-11_2777-10delinsCT (n.2777-11_2777-10delinsCT)
n.6692-11_6692-10delinsCT
10g.71793172delCA915945954CDH23c.6254-10del (n.6254-10del)
c.6269-10del (n.6269-10del)
c.6449-10del (n.6449-10del)
c.6383-10del (n.6383-10del)
c.6446-10del (n.6446-10del)
c.6443-10del (n.6443-10del)
c.6389-10del (n.6389-10del)
c.6314-10del (n.6314-10del)
c.5909-10del (n.5909-10del)
c.5267-10del (n.5267-10del)
c.2777-10del (n.2777-10del)
n.6692-10del
 ClinVar dbSNP
10g.71793172T>CCA2609580233CDH23c.6254-10T>C (n.6254-10T>C)
c.6269-10T>C (n.6269-10T>C)
c.6449-10T>C (n.6449-10T>C)
c.6383-10T>C (n.6383-10T>C)
c.6446-10T>C (n.6446-10T>C)
c.6443-10T>C (n.6443-10T>C)
c.6389-10T>C (n.6389-10T>C)
c.6314-10T>C (n.6314-10T>C)
c.5909-10T>C (n.5909-10T>C)
c.5267-10T>C (n.5267-10T>C)
c.2777-10T>C (n.2777-10T>C)
n.6692-10T>C
 gnomAD v4
10g.71793172T>GCA2574578496CDH23c.6254-10T>G (n.6254-10T>G)
c.6269-10T>G (n.6269-10T>G)
c.6449-10T>G (n.6449-10T>G)
c.6383-10T>G (n.6383-10T>G)
c.6446-10T>G (n.6446-10T>G)
c.6443-10T>G (n.6443-10T>G)
c.6389-10T>G (n.6389-10T>G)
c.6314-10T>G (n.6314-10T>G)
c.5909-10T>G (n.5909-10T>G)
c.5267-10T>G (n.5267-10T>G)
c.2777-10T>G (n.2777-10T>G)
n.6692-10T>G
10g.71793174_71793201dupCA929791241CDH23c.6254-8_6273dup
c.6269-8_6288dup
c.6449-8_6468dup
c.6383-8_6402dup
c.6446-8_6465dup
c.6443-8_6462dup
c.6389-8_6408dup
c.6314-8_6333dup
c.5909-8_5928dup
c.5267-8_5286dup
c.2777-8_2796dup
n.6692-8_6711dup
 dbSNP gnomAD v3 gnomAD v4
10g.71793173C=CA1918874113CDH23c.6254-9C= (n.6254-9C=)
c.6269-9C= (n.6269-9C=)
c.6449-9C= (n.6449-9C=)
c.6383-9C= (n.6383-9C=)
c.6446-9C= (n.6446-9C=)
c.6443-9C= (n.6443-9C=)
c.6389-9C= (n.6389-9C=)
c.6314-9C= (n.6314-9C=)
c.5909-9C= (n.5909-9C=)
c.5267-9C= (n.5267-9C=)
c.2777-9C= (n.2777-9C=)
n.6692-9C=
10g.71793173C>TCA594705896CDH23c.6254-9C>T (n.6254-9C>T)
c.6269-9C>T (n.6269-9C>T)
c.6449-9C>T (n.6449-9C>T)
c.6383-9C>T (n.6383-9C>T)
c.6446-9C>T (n.6446-9C>T)
c.6443-9C>T (n.6443-9C>T)
c.6389-9C>T (n.6389-9C>T)
c.6314-9C>T (n.6314-9C>T)
c.5909-9C>T (n.5909-9C>T)
c.5267-9C>T (n.5267-9C>T)
c.2777-9C>T (n.2777-9C>T)
n.6692-9C>T
 dbSNP gnomAD v2 gnomAD v4
10g.71793174T>CCA2609580234CDH23c.6254-8T>C (n.6254-8T>C)
c.6269-8T>C (n.6269-8T>C)
c.6449-8T>C (n.6449-8T>C)
c.6383-8T>C (n.6383-8T>C)
c.6446-8T>C (n.6446-8T>C)
c.6443-8T>C (n.6443-8T>C)
c.6389-8T>C (n.6389-8T>C)
c.6314-8T>C (n.6314-8T>C)
c.5909-8T>C (n.5909-8T>C)
c.5267-8T>C (n.5267-8T>C)
c.2777-8T>C (n.2777-8T>C)
n.6692-8T>C
 gnomAD v4
10g.71793175C>TCA2609580236CDH23c.6254-7C>T (n.6254-7C>T)
c.6269-7C>T (n.6269-7C>T)
c.6449-7C>T (n.6449-7C>T)
c.6383-7C>T (n.6383-7C>T)
c.6446-7C>T (n.6446-7C>T)
c.6443-7C>T (n.6443-7C>T)
c.6389-7C>T (n.6389-7C>T)
c.6314-7C>T (n.6314-7C>T)
c.5909-7C>T (n.5909-7C>T)
c.5267-7C>T (n.5267-7C>T)
c.2777-7C>T (n.2777-7C>T)
n.6692-7C>T
 gnomAD v4
10g.71793176C>ACA2609580238CDH23c.6254-6C>A (n.6254-6C>A)
c.6269-6C>A (n.6269-6C>A)
c.6449-6C>A (n.6449-6C>A)
c.6383-6C>A (n.6383-6C>A)
c.6446-6C>A (n.6446-6C>A)
c.6443-6C>A (n.6443-6C>A)
c.6389-6C>A (n.6389-6C>A)
c.6314-6C>A (n.6314-6C>A)
c.5909-6C>A (n.5909-6C>A)
c.5267-6C>A (n.5267-6C>A)
c.2777-6C>A (n.2777-6C>A)
n.6692-6C>A
 gnomAD v4
10g.71793176C=CA1918874115CDH23c.6254-6C= (n.6254-6C=)
c.6269-6C= (n.6269-6C=)
c.6449-6C= (n.6449-6C=)
c.6383-6C= (n.6383-6C=)
c.6446-6C= (n.6446-6C=)
c.6443-6C= (n.6443-6C=)
c.6389-6C= (n.6389-6C=)
c.6314-6C= (n.6314-6C=)
c.5909-6C= (n.5909-6C=)
c.5267-6C= (n.5267-6C=)
c.2777-6C= (n.2777-6C=)
n.6692-6C=
10g.71793176C>TCA594705910CDH23c.6254-6C>T (n.6254-6C>T)
c.6269-6C>T (n.6269-6C>T)
c.6449-6C>T (n.6449-6C>T)
c.6383-6C>T (n.6383-6C>T)
c.6446-6C>T (n.6446-6C>T)
c.6443-6C>T (n.6443-6C>T)
c.6389-6C>T (n.6389-6C>T)
c.6314-6C>T (n.6314-6C>T)
c.5909-6C>T (n.5909-6C>T)
c.5267-6C>T (n.5267-6C>T)
c.2777-6C>T (n.2777-6C>T)
n.6692-6C>T
 dbSNP gnomAD v2
10g.71793178_71793181delinsACAGCA1918874116CDH23c.6254-4_6254-1delinsACAG (n.6254-4_6254-1delinsACAG)
c.6269-4_6269-1delinsACAG (n.6269-4_6269-1delinsACAG)
c.6449-4_6449-1delinsACAG (n.6449-4_6449-1delinsACAG)
c.6383-4_6383-1delinsACAG (n.6383-4_6383-1delinsACAG)
c.6446-4_6446-1delinsACAG (n.6446-4_6446-1delinsACAG)
c.6443-4_6443-1delinsACAG (n.6443-4_6443-1delinsACAG)
c.6389-4_6389-1delinsACAG (n.6389-4_6389-1delinsACAG)
c.6314-4_6314-1delinsACAG (n.6314-4_6314-1delinsACAG)
c.5909-4_5909-1delinsACAG (n.5909-4_5909-1delinsACAG)
c.5267-4_5267-1delinsACAG (n.5267-4_5267-1delinsACAG)
c.2777-4_2777-1delinsACAG (n.2777-4_2777-1delinsACAG)
n.6692-4_6692-1delinsACAG
10g.71793178_71793182delinsACAGGCA1918874117CDH23c.6254-4_6254delinsACAGG
c.6269-4_6269delinsACAGG
c.6449-4_6449delinsACAGG
c.6383-4_6383delinsACAGG
c.6446-4_6446delinsACAGG
c.6443-4_6443delinsACAGG
c.6389-4_6389delinsACAGG
c.6314-4_6314delinsACAGG
c.5909-4_5909delinsACAGG
c.5267-4_5267delinsACAGG
c.2777-4_2777delinsACAGG
n.6692-4_6692delinsACAGG
10g.71793179C=CA1918874119CDH23c.6254-3C= (n.6254-3C=)
c.6269-3C= (n.6269-3C=)
c.6449-3C= (n.6449-3C=)
c.6383-3C= (n.6383-3C=)
c.6446-3C= (n.6446-3C=)
c.6443-3C= (n.6443-3C=)
c.6389-3C= (n.6389-3C=)
c.6314-3C= (n.6314-3C=)
c.5909-3C= (n.5909-3C=)
c.5267-3C= (n.5267-3C=)
c.2777-3C= (n.2777-3C=)
n.6692-3C=
10g.71793179C>TCA594705912CDH23c.6254-3C>T (n.6254-3C>T)
c.6269-3C>T (n.6269-3C>T)
c.6449-3C>T (n.6449-3C>T)
c.6383-3C>T (n.6383-3C>T)
c.6446-3C>T (n.6446-3C>T)
c.6443-3C>T (n.6443-3C>T)
c.6389-3C>T (n.6389-3C>T)
c.6314-3C>T (n.6314-3C>T)
c.5909-3C>T (n.5909-3C>T)
c.5267-3C>T (n.5267-3C>T)
c.2777-3C>T (n.2777-3C>T)
n.6692-3C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793179_71793181delCA594705911CDH23c.6254-3_6254-1del (n.6254-3_6254-1del)
c.6269-3_6269-1del (n.6269-3_6269-1del)
c.6449-3_6449-1del (n.6449-3_6449-1del)
c.6383-3_6383-1del (n.6383-3_6383-1del)
c.6446-3_6446-1del (n.6446-3_6446-1del)
c.6443-3_6443-1del (n.6443-3_6443-1del)
c.6389-3_6389-1del (n.6389-3_6389-1del)
c.6314-3_6314-1del (n.6314-3_6314-1del)
c.5909-3_5909-1del (n.5909-3_5909-1del)
c.5267-3_5267-1del (n.5267-3_5267-1del)
c.2777-3_2777-1del (n.2777-3_2777-1del)
n.6692-3_6692-1del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793179_71793182delinsTCA1139661501CDH23c.6254-3_6254delinsT
c.6269-3_6269delinsT
c.6449-3_6449delinsT
c.6383-3_6383delinsT
c.6446-3_6446delinsT
c.6443-3_6443delinsT
c.6389-3_6389delinsT
c.6314-3_6314delinsT
c.5909-3_5909delinsT
c.5267-3_5267delinsT
c.2777-3_2777delinsT
n.6692-3_6692delinsT
 ClinVar dbSNP
10g.71793180A>CCA377153748CDH23c.6254-2A>C (n.6254-2A>C)
c.6269-2A>C (n.6269-2A>C)
c.6449-2A>C (n.6449-2A>C)
c.6383-2A>C (n.6383-2A>C)
c.6446-2A>C (n.6446-2A>C)
c.6443-2A>C (n.6443-2A>C)
c.6389-2A>C (n.6389-2A>C)
c.6314-2A>C (n.6314-2A>C)
c.5909-2A>C (n.5909-2A>C)
c.5267-2A>C (n.5267-2A>C)
c.2777-2A>C (n.2777-2A>C)
n.6692-2A>C
10g.71793180A>GCA377153752CDH23c.6254-2A>G (n.6254-2A>G)
c.6269-2A>G (n.6269-2A>G)
c.6449-2A>G (n.6449-2A>G)
c.6383-2A>G (n.6383-2A>G)
c.6446-2A>G (n.6446-2A>G)
c.6443-2A>G (n.6443-2A>G)
c.6389-2A>G (n.6389-2A>G)
c.6314-2A>G (n.6314-2A>G)
c.5909-2A>G (n.5909-2A>G)
c.5267-2A>G (n.5267-2A>G)
c.2777-2A>G (n.2777-2A>G)
n.6692-2A>G
10g.71793180A>TCA377153756CDH23c.6254-2A>T (n.6254-2A>T)
c.6269-2A>T (n.6269-2A>T)
c.6449-2A>T (n.6449-2A>T)
c.6383-2A>T (n.6383-2A>T)
c.6446-2A>T (n.6446-2A>T)
c.6443-2A>T (n.6443-2A>T)
c.6389-2A>T (n.6389-2A>T)
c.6314-2A>T (n.6314-2A>T)
c.5909-2A>T (n.5909-2A>T)
c.5267-2A>T (n.5267-2A>T)
c.2777-2A>T (n.2777-2A>T)
n.6692-2A>T
10g.71793181G>ACA377153768CDH23c.6254-1G>A (n.6254-1G>A)
c.6269-1G>A (n.6269-1G>A)
c.6449-1G>A (n.6449-1G>A)
c.6383-1G>A (n.6383-1G>A)
c.6446-1G>A (n.6446-1G>A)
c.6443-1G>A (n.6443-1G>A)
c.6389-1G>A (n.6389-1G>A)
c.6314-1G>A (n.6314-1G>A)
c.5909-1G>A (n.5909-1G>A)
c.5267-1G>A (n.5267-1G>A)
c.2777-1G>A (n.2777-1G>A)
n.6692-1G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71793181G>CCA377153776CDH23c.6254-1G>C (n.6254-1G>C)
c.6269-1G>C (n.6269-1G>C)
c.6449-1G>C (n.6449-1G>C)
c.6383-1G>C (n.6383-1G>C)
c.6446-1G>C (n.6446-1G>C)
c.6443-1G>C (n.6443-1G>C)
c.6389-1G>C (n.6389-1G>C)
c.6314-1G>C (n.6314-1G>C)
c.5909-1G>C (n.5909-1G>C)
c.5267-1G>C (n.5267-1G>C)
c.2777-1G>C (n.2777-1G>C)
n.6692-1G>C
 dbSNP
10g.71793181G=CA1918874122CDH23c.6254-1G= (n.6254-1G=)
c.6269-1G= (n.6269-1G=)
c.6449-1G= (n.6449-1G=)
c.6383-1G= (n.6383-1G=)
c.6446-1G= (n.6446-1G=)
c.6443-1G= (n.6443-1G=)
c.6389-1G= (n.6389-1G=)
c.6314-1G= (n.6314-1G=)
c.5909-1G= (n.5909-1G=)
c.5267-1G= (n.5267-1G=)
c.2777-1G= (n.2777-1G=)
n.6692-1G=
10g.71793181G>TCA377153773CDH23c.6254-1G>T (n.6254-1G>T)
c.6269-1G>T (n.6269-1G>T)
c.6449-1G>T (n.6449-1G>T)
c.6383-1G>T (n.6383-1G>T)
c.6446-1G>T (n.6446-1G>T)
c.6443-1G>T (n.6443-1G>T)
c.6389-1G>T (n.6389-1G>T)
c.6314-1G>T (n.6314-1G>T)
c.5909-1G>T (n.5909-1G>T)
c.5267-1G>T (n.5267-1G>T)
c.2777-1G>T (n.2777-1G>T)
n.6692-1G>T
 gnomAD v4
10g.71793181_71793182insCCA2573053290CDH23c.6254-1_6254insC (n.6254-1_6254insC)
c.6269-1_6269insC (n.6269-1_6269insC)
c.6449-1_6449insC (n.6449-1_6449insC)
c.6383-1_6383insC (n.6383-1_6383insC)
c.6446-1_6446insC (n.6446-1_6446insC)
c.6443-1_6443insC (n.6443-1_6443insC)
c.6389-1_6389insC (n.6389-1_6389insC)
c.6314-1_6314insC (n.6314-1_6314insC)
c.5909-1_5909insC (n.5909-1_5909insC)
c.5267-1_5267insC (n.5267-1_5267insC)
c.2777-1_2777insC (n.2777-1_2777insC)
n.6692-1_6692insC
 ClinVar dbSNP
10g.71793182G>ACA377153780CDH23c.6254G>A (p.Gly2085Glu)
c.6269G>A (p.Gly2090Glu)
c.6449G>A (p.Gly2150Glu)
c.6383G>A (p.Gly2128Glu)
c.6446G>A (p.Gly2149Glu)
c.6443G>A (p.Gly2148Glu)
c.6389G>A (p.Gly2130Glu)
c.6314G>A (p.Gly2105Glu)
c.5909G>A (p.Gly1970Glu)
c.5267G>A (p.Gly1756Glu)
c.2777G>A (p.Gly926Glu)
n.6692G>A
10g.71793182G>CCA377153783CDH23c.6254G>C (p.Gly2085Ala)
c.6269G>C (p.Gly2090Ala)
c.6449G>C (p.Gly2150Ala)
c.6383G>C (p.Gly2128Ala)
c.6446G>C (p.Gly2149Ala)
c.6443G>C (p.Gly2148Ala)
c.6389G>C (p.Gly2130Ala)
c.6314G>C (p.Gly2105Ala)
c.5909G>C (p.Gly1970Ala)
c.5267G>C (p.Gly1756Ala)
c.2777G>C (p.Gly926Ala)
n.6692G>C
 dbSNP
10g.71793182G=CA1918874124CDH23c.6254G= (p.Gly2085=)
c.6269G= (p.Gly2090=)
c.6449G= (p.Gly2150=)
c.6383G= (p.Gly2128=)
c.6446G= (p.Gly2149=)
c.6443G= (p.Gly2148=)
c.6389G= (p.Gly2130=)
c.6314G= (p.Gly2105=)
c.5909G= (p.Gly1970=)
c.5267G= (p.Gly1756=)
c.2777G= (p.Gly926=)
n.6692G=
10g.71793182G>TCA377153785CDH23c.6254G>T (p.Gly2085Val)
c.6269G>T (p.Gly2090Val)
c.6449G>T (p.Gly2150Val)
c.6383G>T (p.Gly2128Val)
c.6446G>T (p.Gly2149Val)
c.6443G>T (p.Gly2148Val)
c.6389G>T (p.Gly2130Val)
c.6314G>T (p.Gly2105Val)
c.5909G>T (p.Gly1970Val)
c.5267G>T (p.Gly1756Val)
c.2777G>T (p.Gly926Val)
n.6692G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793182_71793184delinsCTACTCCCTTTTCCCCA2573053291CDH23c.6254_6256delinsCTACTCCCTTTTCCC (p.Gly2085_Phe2086delinsAlaThrProPheSerLeu)
c.6269_6271delinsCTACTCCCTTTTCCC (p.Gly2090_Phe2091delinsAlaThrProPheSerLeu)
c.6449_6451delinsCTACTCCCTTTTCCC (p.Gly2150_Phe2151delinsAlaThrProPheSerLeu)
c.6383_6385delinsCTACTCCCTTTTCCC (p.Gly2128_Phe2129delinsAlaThrProPheSerLeu)
c.6446_6448delinsCTACTCCCTTTTCCC (p.Gly2149_Phe2150delinsAlaThrProPheSerLeu)
c.6443_6445delinsCTACTCCCTTTTCCC (p.Gly2148_Phe2149delinsAlaThrProPheSerLeu)
c.6389_6391delinsCTACTCCCTTTTCCC (p.Gly2130_Phe2131delinsAlaThrProPheSerLeu)
c.6314_6316delinsCTACTCCCTTTTCCC (p.Gly2105_Phe2106delinsAlaThrProPheSerLeu)
c.5909_5911delinsCTACTCCCTTTTCCC (p.Gly1970_Phe1971delinsAlaThrProPheSerLeu)
c.5267_5269delinsCTACTCCCTTTTCCC (p.Gly1756_Phe1757delinsAlaThrProPheSerLeu)
c.2777_2779delinsCTACTCCCTTTTCCC (p.Gly926_Phe927delinsAlaThrProPheSerLeu)
n.6692_6694delinsCTACTCCCTTTTCCC
 ClinVar dbSNP
10g.71793183_71793184insCTCCCTTTCA2573053292CDH23c.6255_6256insCTCCCTTT (p.Phe2086LeufsTer26)
c.6270_6271insCTCCCTTT (p.Phe2091LeufsTer26)
c.6450_6451insCTCCCTTT (p.Phe2151LeufsTer26)
c.6384_6385insCTCCCTTT (p.Phe2129LeufsTer26)
c.6447_6448insCTCCCTTT (p.Phe2150LeufsTer26)
c.6444_6445insCTCCCTTT (p.Phe2149LeufsTer26)
c.6390_6391insCTCCCTTT (p.Phe2131LeufsTer26)
c.6315_6316insCTCCCTTT (p.Phe2106LeufsTer26)
c.5910_5911insCTCCCTTT (p.Phe1971LeufsTer26)
c.5268_5269insCTCCCTTT (p.Phe1757LeufsTer26)
c.2778_2779insCTCCCTTT (p.Phe927LeufsTer26)
n.6693_6694insCTCCCTTT
 ClinVar dbSNP
10g.71793184T>ACA377153789CDH23c.6256T>A (p.Phe2086Ile)
c.6271T>A (p.Phe2091Ile)
c.6451T>A (p.Phe2151Ile)
c.6385T>A (p.Phe2129Ile)
c.6448T>A (p.Phe2150Ile)
c.6445T>A (p.Phe2149Ile)
c.6391T>A (p.Phe2131Ile)
c.6316T>A (p.Phe2106Ile)
c.5911T>A (p.Phe1971Ile)
c.5269T>A (p.Phe1757Ile)
c.2779T>A (p.Phe927Ile)
n.6694T>A
10g.71793184T>CCA377153792CDH23c.6256T>C (p.Phe2086Leu)
c.6271T>C (p.Phe2091Leu)
c.6451T>C (p.Phe2151Leu)
c.6385T>C (p.Phe2129Leu)
c.6448T>C (p.Phe2150Leu)
c.6445T>C (p.Phe2149Leu)
c.6391T>C (p.Phe2131Leu)
c.6316T>C (p.Phe2106Leu)
c.5911T>C (p.Phe1971Leu)
c.5269T>C (p.Phe1757Leu)
c.2779T>C (p.Phe927Leu)
n.6694T>C
10g.71793184T>GCA377153795CDH23c.6256T>G (p.Phe2086Val)
c.6271T>G (p.Phe2091Val)
c.6451T>G (p.Phe2151Val)
c.6385T>G (p.Phe2129Val)
c.6448T>G (p.Phe2150Val)
c.6445T>G (p.Phe2149Val)
c.6391T>G (p.Phe2131Val)
c.6316T>G (p.Phe2106Val)
c.5911T>G (p.Phe1971Val)
c.5269T>G (p.Phe1757Val)
c.2779T>G (p.Phe927Val)
n.6694T>G
10g.71793185T>ACA377153798CDH23c.6257T>A (p.Phe2086Tyr)
c.6272T>A (p.Phe2091Tyr)
c.6452T>A (p.Phe2151Tyr)
c.6386T>A (p.Phe2129Tyr)
c.6449T>A (p.Phe2150Tyr)
c.6446T>A (p.Phe2149Tyr)
c.6392T>A (p.Phe2131Tyr)
c.6317T>A (p.Phe2106Tyr)
c.5912T>A (p.Phe1971Tyr)
c.5270T>A (p.Phe1757Tyr)
c.2780T>A (p.Phe927Tyr)
n.6695T>A
10g.71793185T>CCA377153801CDH23c.6257T>C (p.Phe2086Ser)
c.6272T>C (p.Phe2091Ser)
c.6452T>C (p.Phe2151Ser)
c.6386T>C (p.Phe2129Ser)
c.6449T>C (p.Phe2150Ser)
c.6446T>C (p.Phe2149Ser)
c.6392T>C (p.Phe2131Ser)
c.6317T>C (p.Phe2106Ser)
c.5912T>C (p.Phe1971Ser)
c.5270T>C (p.Phe1757Ser)
c.2780T>C (p.Phe927Ser)
n.6695T>C
10g.71793185T>GCA377153805CDH23c.6257T>G (p.Phe2086Cys)
c.6272T>G (p.Phe2091Cys)
c.6452T>G (p.Phe2151Cys)
c.6386T>G (p.Phe2129Cys)
c.6449T>G (p.Phe2150Cys)
c.6446T>G (p.Phe2149Cys)
c.6392T>G (p.Phe2131Cys)
c.6317T>G (p.Phe2106Cys)
c.5912T>G (p.Phe1971Cys)
c.5270T>G (p.Phe1757Cys)
c.2780T>G (p.Phe927Cys)
n.6695T>G
10g.71793186C>ACA377153810CDH23c.6258C>A (p.Phe2086Leu)
c.6273C>A (p.Phe2091Leu)
c.6453C>A (p.Phe2151Leu)
c.6387C>A (p.Phe2129Leu)
c.6450C>A (p.Phe2150Leu)
c.6447C>A (p.Phe2149Leu)
c.6393C>A (p.Phe2131Leu)
c.6318C>A (p.Phe2106Leu)
c.5913C>A (p.Phe1971Leu)
c.5271C>A (p.Phe1757Leu)
c.2781C>A (p.Phe927Leu)
n.6696C>A
10g.71793186C>GCA377153811CDH23c.6258C>G (p.Phe2086Leu)
c.6273C>G (p.Phe2091Leu)
c.6453C>G (p.Phe2151Leu)
c.6387C>G (p.Phe2129Leu)
c.6450C>G (p.Phe2150Leu)
c.6447C>G (p.Phe2149Leu)
c.6393C>G (p.Phe2131Leu)
c.6318C>G (p.Phe2106Leu)
c.5913C>G (p.Phe1971Leu)
c.5271C>G (p.Phe1757Leu)
c.2781C>G (p.Phe927Leu)
n.6696C>G
10g.71793187T>ACA377153834CDH23c.6259T>A (p.Ser2087Thr)
c.6274T>A (p.Ser2092Thr)
c.6454T>A (p.Ser2152Thr)
c.6388T>A (p.Ser2130Thr)
c.6451T>A (p.Ser2151Thr)
c.6448T>A (p.Ser2150Thr)
c.6394T>A (p.Ser2132Thr)
c.6319T>A (p.Ser2107Thr)
c.5914T>A (p.Ser1972Thr)
c.5272T>A (p.Ser1758Thr)
c.2782T>A (p.Ser928Thr)
n.6697T>A
10g.71793187T>CCA377153832CDH23c.6259T>C (p.Ser2087Pro)
c.6274T>C (p.Ser2092Pro)
c.6454T>C (p.Ser2152Pro)
c.6388T>C (p.Ser2130Pro)
c.6451T>C (p.Ser2151Pro)
c.6448T>C (p.Ser2150Pro)
c.6394T>C (p.Ser2132Pro)
c.6319T>C (p.Ser2107Pro)
c.5914T>C (p.Ser1972Pro)
c.5272T>C (p.Ser1758Pro)
c.2782T>C (p.Ser928Pro)
n.6697T>C
 gnomAD v4
10g.71793187T>GCA377153831CDH23c.6259T>G (p.Ser2087Ala)
c.6274T>G (p.Ser2092Ala)
c.6454T>G (p.Ser2152Ala)
c.6388T>G (p.Ser2130Ala)
c.6451T>G (p.Ser2151Ala)
c.6448T>G (p.Ser2150Ala)
c.6394T>G (p.Ser2132Ala)
c.6319T>G (p.Ser2107Ala)
c.5914T>G (p.Ser1972Ala)
c.5272T>G (p.Ser1758Ala)
c.2782T>G (p.Ser928Ala)
n.6697T>G
10g.71793188C>ACA377153845CDH23c.6260C>A (p.Ser2087Ter)
c.6275C>A (p.Ser2092Ter)
c.6455C>A (p.Ser2152Ter)
c.6389C>A (p.Ser2130Ter)
c.6452C>A (p.Ser2151Ter)
c.6449C>A (p.Ser2150Ter)
c.6395C>A (p.Ser2132Ter)
c.6320C>A (p.Ser2107Ter)
c.5915C>A (p.Ser1972Ter)
c.5273C>A (p.Ser1758Ter)
c.2783C>A (p.Ser928Ter)
n.6698C>A
10g.71793188C>GCA377153837CDH23c.6260C>G (p.Ser2087Ter)
c.6275C>G (p.Ser2092Ter)
c.6455C>G (p.Ser2152Ter)
c.6389C>G (p.Ser2130Ter)
c.6452C>G (p.Ser2151Ter)
c.6449C>G (p.Ser2150Ter)
c.6395C>G (p.Ser2132Ter)
c.6320C>G (p.Ser2107Ter)
c.5915C>G (p.Ser1972Ter)
c.5273C>G (p.Ser1758Ter)
c.2783C>G (p.Ser928Ter)
n.6698C>G
10g.71793188C>TCA377153839CDH23c.6260C>T (p.Ser2087Leu)
c.6275C>T (p.Ser2092Leu)
c.6455C>T (p.Ser2152Leu)
c.6389C>T (p.Ser2130Leu)
c.6452C>T (p.Ser2151Leu)
c.6449C>T (p.Ser2150Leu)
c.6395C>T (p.Ser2132Leu)
c.6320C>T (p.Ser2107Leu)
c.5915C>T (p.Ser1972Leu)
c.5273C>T (p.Ser1758Leu)
c.2783C>T (p.Ser928Leu)
n.6698C>T
 dbSNP
10g.71793189A>CCA2574578497CDH23c.6261A>C (p.Ser2087=)
c.6276A>C (p.Ser2092=)
c.6456A>C (p.Ser2152=)
c.6390A>C (p.Ser2130=)
c.6453A>C (p.Ser2151=)
c.6450A>C (p.Ser2150=)
c.6396A>C (p.Ser2132=)
c.6321A>C (p.Ser2107=)
c.5916A>C (p.Ser1972=)
c.5274A>C (p.Ser1758=)
c.2784A>C (p.Ser928=)
n.6699A>C
10g.71793190G>ACA377153850CDH23c.6262G>A (p.Val2088Ile)
c.6277G>A (p.Val2093Ile)
c.6457G>A (p.Val2153Ile)
c.6391G>A (p.Val2131Ile)
c.6454G>A (p.Val2152Ile)
c.6451G>A (p.Val2151Ile)
c.6397G>A (p.Val2133Ile)
c.6322G>A (p.Val2108Ile)
c.5917G>A (p.Val1973Ile)
c.5275G>A (p.Val1759Ile)
c.2785G>A (p.Val929Ile)
n.6700G>A
10g.71793190G>CCA377153854CDH23c.6262G>C (p.Val2088Leu)
c.6277G>C (p.Val2093Leu)
c.6457G>C (p.Val2153Leu)
c.6391G>C (p.Val2131Leu)
c.6454G>C (p.Val2152Leu)
c.6451G>C (p.Val2151Leu)
c.6397G>C (p.Val2133Leu)
c.6322G>C (p.Val2108Leu)
c.5917G>C (p.Val1973Leu)
c.5275G>C (p.Val1759Leu)
c.2785G>C (p.Val929Leu)
n.6700G>C
10g.71793190G>TCA377153855CDH23c.6262G>T (p.Val2088Phe)
c.6277G>T (p.Val2093Phe)
c.6457G>T (p.Val2153Phe)
c.6391G>T (p.Val2131Phe)
c.6454G>T (p.Val2152Phe)
c.6451G>T (p.Val2151Phe)
c.6397G>T (p.Val2133Phe)
c.6322G>T (p.Val2108Phe)
c.5917G>T (p.Val1973Phe)
c.5275G>T (p.Val1759Phe)
c.2785G>T (p.Val929Phe)
n.6700G>T
10g.71793191T>ACA377153858CDH23c.6263T>A (p.Val2088Asp)
c.6278T>A (p.Val2093Asp)
c.6458T>A (p.Val2153Asp)
c.6392T>A (p.Val2131Asp)
c.6455T>A (p.Val2152Asp)
c.6452T>A (p.Val2151Asp)
c.6398T>A (p.Val2133Asp)
c.6323T>A (p.Val2108Asp)
c.5918T>A (p.Val1973Asp)
c.5276T>A (p.Val1759Asp)
c.2786T>A (p.Val929Asp)
n.6701T>A
10g.71793191T>CCA377153861CDH23c.6263T>C (p.Val2088Ala)
c.6278T>C (p.Val2093Ala)
c.6458T>C (p.Val2153Ala)
c.6392T>C (p.Val2131Ala)
c.6455T>C (p.Val2152Ala)
c.6452T>C (p.Val2151Ala)
c.6398T>C (p.Val2133Ala)
c.6323T>C (p.Val2108Ala)
c.5918T>C (p.Val1973Ala)
c.5276T>C (p.Val1759Ala)
c.2786T>C (p.Val929Ala)
n.6701T>C
10g.71793191T>GCA377153864CDH23c.6263T>G (p.Val2088Gly)
c.6278T>G (p.Val2093Gly)
c.6458T>G (p.Val2153Gly)
c.6392T>G (p.Val2131Gly)
c.6455T>G (p.Val2152Gly)
c.6452T>G (p.Val2151Gly)
c.6398T>G (p.Val2133Gly)
c.6323T>G (p.Val2108Gly)
c.5918T>G (p.Val1973Gly)
c.5276T>G (p.Val1759Gly)
c.2786T>G (p.Val929Gly)
n.6701T>G
10g.71793192C>ACA184522CDH23c.6264C>A (p.Val2088=)
c.6279C>A (p.Val2093=)
c.6459C>A (p.Val2153=)
c.6393C>A (p.Val2131=)
c.6456C>A (p.Val2152=)
c.6453C>A (p.Val2151=)
c.6399C>A (p.Val2133=)
c.6324C>A (p.Val2108=)
c.5919C>A (p.Val1973=)
c.5277C>A (p.Val1759=)
c.2787C>A (p.Val929=)
n.6702C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793192C=CA1918874125CDH23c.6264C= (p.Val2088=)
c.6279C= (p.Val2093=)
c.6459C= (p.Val2153=)
c.6393C= (p.Val2131=)
c.6456C= (p.Val2152=)
c.6453C= (p.Val2151=)
c.6399C= (p.Val2133=)
c.6324C= (p.Val2108=)
c.5919C= (p.Val1973=)
c.5277C= (p.Val1759=)
c.2787C= (p.Val929=)
n.6702C=
10g.71793192C>TCA2722017246CDH23c.6264C>T (p.Val2088=)
c.6279C>T (p.Val2093=)
c.6459C>T (p.Val2153=)
c.6393C>T (p.Val2131=)
c.6456C>T (p.Val2152=)
c.6453C>T (p.Val2151=)
c.6399C>T (p.Val2133=)
c.6324C>T (p.Val2108=)
c.5919C>T (p.Val1973=)
c.5277C>T (p.Val1759=)
c.2787C>T (p.Val929=)
n.6702C>T
 dbSNP
10g.71793193C>ACA377153887CDH23c.6265C>A (p.Leu2089Ile)
c.6280C>A (p.Leu2094Ile)
c.6460C>A (p.Leu2154Ile)
c.6394C>A (p.Leu2132Ile)
c.6457C>A (p.Leu2153Ile)
c.6454C>A (p.Leu2152Ile)
c.6400C>A (p.Leu2134Ile)
c.6325C>A (p.Leu2109Ile)
c.5920C>A (p.Leu1974Ile)
c.5278C>A (p.Leu1760Ile)
c.2788C>A (p.Leu930Ile)
n.6703C>A
 dbSNP
10g.71793193C=CA1918874127CDH23c.6265C= (p.Leu2089=)
c.6280C= (p.Leu2094=)
c.6460C= (p.Leu2154=)
c.6394C= (p.Leu2132=)
c.6457C= (p.Leu2153=)
c.6454C= (p.Leu2152=)
c.6400C= (p.Leu2134=)
c.6325C= (p.Leu2109=)
c.5920C= (p.Leu1974=)
c.5278C= (p.Leu1760=)
c.2788C= (p.Leu930=)
n.6703C=
10g.71793193C>GCA377153894CDH23c.6265C>G (p.Leu2089Val)
c.6280C>G (p.Leu2094Val)
c.6460C>G (p.Leu2154Val)
c.6394C>G (p.Leu2132Val)
c.6457C>G (p.Leu2153Val)
c.6454C>G (p.Leu2152Val)
c.6400C>G (p.Leu2134Val)
c.6325C>G (p.Leu2109Val)
c.5920C>G (p.Leu1974Val)
c.5278C>G (p.Leu1760Val)
c.2788C>G (p.Leu930Val)
n.6703C>G
10g.71793193C>TCA5546047CDH23c.6265C>T (p.Leu2089Phe)
c.6280C>T (p.Leu2094Phe)
c.6460C>T (p.Leu2154Phe)
c.6394C>T (p.Leu2132Phe)
c.6457C>T (p.Leu2153Phe)
c.6454C>T (p.Leu2152Phe)
c.6400C>T (p.Leu2134Phe)
c.6325C>T (p.Leu2109Phe)
c.5920C>T (p.Leu1974Phe)
c.5278C>T (p.Leu1760Phe)
c.2788C>T (p.Leu930Phe)
n.6703C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793194T>ACA377153910CDH23c.6266T>A (p.Leu2089His)
c.6281T>A (p.Leu2094His)
c.6461T>A (p.Leu2154His)
c.6395T>A (p.Leu2132His)
c.6458T>A (p.Leu2153His)
c.6455T>A (p.Leu2152His)
c.6401T>A (p.Leu2134His)
c.6326T>A (p.Leu2109His)
c.5921T>A (p.Leu1974His)
c.5279T>A (p.Leu1760His)
c.2789T>A (p.Leu930His)
n.6704T>A
10g.71793194T>CCA377153912CDH23c.6266T>C (p.Leu2089Pro)
c.6281T>C (p.Leu2094Pro)
c.6461T>C (p.Leu2154Pro)
c.6395T>C (p.Leu2132Pro)
c.6458T>C (p.Leu2153Pro)
c.6455T>C (p.Leu2152Pro)
c.6401T>C (p.Leu2134Pro)
c.6326T>C (p.Leu2109Pro)
c.5921T>C (p.Leu1974Pro)
c.5279T>C (p.Leu1760Pro)
c.2789T>C (p.Leu930Pro)
n.6704T>C
10g.71793194T>GCA377153906CDH23c.6266T>G (p.Leu2089Arg)
c.6281T>G (p.Leu2094Arg)
c.6461T>G (p.Leu2154Arg)
c.6395T>G (p.Leu2132Arg)
c.6458T>G (p.Leu2153Arg)
c.6455T>G (p.Leu2152Arg)
c.6401T>G (p.Leu2134Arg)
c.6326T>G (p.Leu2109Arg)
c.5921T>G (p.Leu1974Arg)
c.5279T>G (p.Leu1760Arg)
c.2789T>G (p.Leu930Arg)
n.6704T>G
10g.71793196C>ACA377153915CDH23c.6268C>A (p.Gln2090Lys)
c.6283C>A (p.Gln2095Lys)
c.6463C>A (p.Gln2155Lys)
c.6397C>A (p.Gln2133Lys)
c.6460C>A (p.Gln2154Lys)
c.6457C>A (p.Gln2153Lys)
c.6403C>A (p.Gln2135Lys)
c.6328C>A (p.Gln2110Lys)
c.5923C>A (p.Gln1975Lys)
c.5281C>A (p.Gln1761Lys)
c.2791C>A (p.Gln931Lys)
n.6706C>A
10g.71793196C>GCA377153923CDH23c.6268C>G (p.Gln2090Glu)
c.6283C>G (p.Gln2095Glu)
c.6463C>G (p.Gln2155Glu)
c.6397C>G (p.Gln2133Glu)
c.6460C>G (p.Gln2154Glu)
c.6457C>G (p.Gln2153Glu)
c.6403C>G (p.Gln2135Glu)
c.6328C>G (p.Gln2110Glu)
c.5923C>G (p.Gln1975Glu)
c.5281C>G (p.Gln1761Glu)
c.2791C>G (p.Gln931Glu)
n.6706C>G
 COSMIC
10g.71793196C>TCA377153926CDH23c.6268C>T (p.Gln2090Ter)
c.6283C>T (p.Gln2095Ter)
c.6463C>T (p.Gln2155Ter)
c.6397C>T (p.Gln2133Ter)
c.6460C>T (p.Gln2154Ter)
c.6457C>T (p.Gln2153Ter)
c.6403C>T (p.Gln2135Ter)
c.6328C>T (p.Gln2110Ter)
c.5923C>T (p.Gln1975Ter)
c.5281C>T (p.Gln1761Ter)
c.2791C>T (p.Gln931Ter)
n.6706C>T
10g.71793197A>CCA377153928CDH23c.6269A>C (p.Gln2090Pro)
c.6284A>C (p.Gln2095Pro)
c.6464A>C (p.Gln2155Pro)
c.6398A>C (p.Gln2133Pro)
c.6461A>C (p.Gln2154Pro)
c.6458A>C (p.Gln2153Pro)
c.6404A>C (p.Gln2135Pro)
c.6329A>C (p.Gln2110Pro)
c.5924A>C (p.Gln1975Pro)
c.5282A>C (p.Gln1761Pro)
c.2792A>C (p.Gln931Pro)
n.6707A>C
10g.71793197A>GCA377153932CDH23c.6269A>G (p.Gln2090Arg)
c.6284A>G (p.Gln2095Arg)
c.6464A>G (p.Gln2155Arg)
c.6398A>G (p.Gln2133Arg)
c.6461A>G (p.Gln2154Arg)
c.6458A>G (p.Gln2153Arg)
c.6404A>G (p.Gln2135Arg)
c.6329A>G (p.Gln2110Arg)
c.5924A>G (p.Gln1975Arg)
c.5282A>G (p.Gln1761Arg)
c.2792A>G (p.Gln931Arg)
n.6707A>G
10g.71793197A>TCA377153935CDH23c.6269A>T (p.Gln2090Leu)
c.6284A>T (p.Gln2095Leu)
c.6464A>T (p.Gln2155Leu)
c.6398A>T (p.Gln2133Leu)
c.6461A>T (p.Gln2154Leu)
c.6458A>T (p.Gln2153Leu)
c.6404A>T (p.Gln2135Leu)
c.6329A>T (p.Gln2110Leu)
c.5924A>T (p.Gln1975Leu)
c.5282A>T (p.Gln1761Leu)
c.2792A>T (p.Gln931Leu)
n.6707A>T
10g.71793198A>CCA377153939CDH23c.6270A>C (p.Gln2090His)
c.6285A>C (p.Gln2095His)
c.6465A>C (p.Gln2155His)
c.6399A>C (p.Gln2133His)
c.6462A>C (p.Gln2154His)
c.6459A>C (p.Gln2153His)
c.6405A>C (p.Gln2135His)
c.6330A>C (p.Gln2110His)
c.5925A>C (p.Gln1975His)
c.5283A>C (p.Gln1761His)
c.2793A>C (p.Gln931His)
n.6708A>C
10g.71793198A>TCA377153942CDH23c.6270A>T (p.Gln2090His)
c.6285A>T (p.Gln2095His)
c.6465A>T (p.Gln2155His)
c.6399A>T (p.Gln2133His)
c.6462A>T (p.Gln2154His)
c.6459A>T (p.Gln2153His)
c.6405A>T (p.Gln2135His)
c.6330A>T (p.Gln2110His)
c.5925A>T (p.Gln1975His)
c.5283A>T (p.Gln1761His)
c.2793A>T (p.Gln931His)
n.6708A>T
10g.71793199G>ACA377153947CDH23c.6271G>A (p.Val2091Ile)
c.6286G>A (p.Val2096Ile)
c.6466G>A (p.Val2156Ile)
c.6400G>A (p.Val2134Ile)
c.6463G>A (p.Val2155Ile)
c.6460G>A (p.Val2154Ile)
c.6406G>A (p.Val2136Ile)
c.6331G>A (p.Val2111Ile)
c.5926G>A (p.Val1976Ile)
c.5284G>A (p.Val1762Ile)
c.2794G>A (p.Val932Ile)
n.6709G>A
 ClinVar gnomAD v4
10g.71793199G>CCA377153948CDH23c.6271G>C (p.Val2091Leu)
c.6286G>C (p.Val2096Leu)
c.6466G>C (p.Val2156Leu)
c.6400G>C (p.Val2134Leu)
c.6463G>C (p.Val2155Leu)
c.6460G>C (p.Val2154Leu)
c.6406G>C (p.Val2136Leu)
c.6331G>C (p.Val2111Leu)
c.5926G>C (p.Val1976Leu)
c.5284G>C (p.Val1762Leu)
c.2794G>C (p.Val932Leu)
n.6709G>C
 dbSNP
10g.71793199G>TCA377153950CDH23c.6271G>T (p.Val2091Phe)
c.6286G>T (p.Val2096Phe)
c.6466G>T (p.Val2156Phe)
c.6400G>T (p.Val2134Phe)
c.6463G>T (p.Val2155Phe)
c.6460G>T (p.Val2154Phe)
c.6406G>T (p.Val2136Phe)
c.6331G>T (p.Val2111Phe)
c.5926G>T (p.Val1976Phe)
c.5284G>T (p.Val1762Phe)
c.2794G>T (p.Val932Phe)
n.6709G>T
10g.71793200T>ACA377153953CDH23c.6272T>A (p.Val2091Asp)
c.6287T>A (p.Val2096Asp)
c.6467T>A (p.Val2156Asp)
c.6401T>A (p.Val2134Asp)
c.6464T>A (p.Val2155Asp)
c.6461T>A (p.Val2154Asp)
c.6407T>A (p.Val2136Asp)
c.6332T>A (p.Val2111Asp)
c.5927T>A (p.Val1976Asp)
c.5285T>A (p.Val1762Asp)
c.2795T>A (p.Val932Asp)
n.6710T>A
10g.71793200T>CCA377153955CDH23c.6272T>C (p.Val2091Ala)
c.6287T>C (p.Val2096Ala)
c.6467T>C (p.Val2156Ala)
c.6401T>C (p.Val2134Ala)
c.6464T>C (p.Val2155Ala)
c.6461T>C (p.Val2154Ala)
c.6407T>C (p.Val2136Ala)
c.6332T>C (p.Val2111Ala)
c.5927T>C (p.Val1976Ala)
c.5285T>C (p.Val1762Ala)
c.2795T>C (p.Val932Ala)
n.6710T>C
10g.71793200T>GCA377153959CDH23c.6272T>G (p.Val2091Gly)
c.6287T>G (p.Val2096Gly)
c.6467T>G (p.Val2156Gly)
c.6401T>G (p.Val2134Gly)
c.6464T>G (p.Val2155Gly)
c.6461T>G (p.Val2154Gly)
c.6407T>G (p.Val2136Gly)
c.6332T>G (p.Val2111Gly)
c.5927T>G (p.Val1976Gly)
c.5285T>G (p.Val1762Gly)
c.2795T>G (p.Val932Gly)
n.6710T>G
10g.71793201_71793203delCA2788485450CDH23c.6273_6275del (p.Thr2092del)
c.6288_6290del (p.Thr2097del)
c.6468_6470del (p.Thr2157del)
c.6402_6404del (p.Thr2135del)
c.6465_6467del (p.Thr2156del)
c.6462_6464del (p.Thr2155del)
c.6408_6410del (p.Thr2137del)
c.6333_6335del (p.Thr2112del)
c.5928_5930del (p.Thr1977del)
c.5286_5288del (p.Thr1763del)
c.2796_2798del (p.Thr933del)
n.6711_6713del
10g.71793202A>CCA377153968CDH23c.6274A>C (p.Thr2092Pro)
c.6289A>C (p.Thr2097Pro)
c.6469A>C (p.Thr2157Pro)
c.6403A>C (p.Thr2135Pro)
c.6466A>C (p.Thr2156Pro)
c.6463A>C (p.Thr2155Pro)
c.6409A>C (p.Thr2137Pro)
c.6334A>C (p.Thr2112Pro)
c.5929A>C (p.Thr1977Pro)
c.5287A>C (p.Thr1763Pro)
c.2797A>C (p.Thr933Pro)
n.6712A>C
10g.71793202A>GCA377153973CDH23c.6274A>G (p.Thr2092Ala)
c.6289A>G (p.Thr2097Ala)
c.6469A>G (p.Thr2157Ala)
c.6403A>G (p.Thr2135Ala)
c.6466A>G (p.Thr2156Ala)
c.6463A>G (p.Thr2155Ala)
c.6409A>G (p.Thr2137Ala)
c.6334A>G (p.Thr2112Ala)
c.5929A>G (p.Thr1977Ala)
c.5287A>G (p.Thr1763Ala)
c.2797A>G (p.Thr933Ala)
n.6712A>G
10g.71793202A>TCA377153967CDH23c.6274A>T (p.Thr2092Ser)
c.6289A>T (p.Thr2097Ser)
c.6469A>T (p.Thr2157Ser)
c.6403A>T (p.Thr2135Ser)
c.6466A>T (p.Thr2156Ser)
c.6463A>T (p.Thr2155Ser)
c.6409A>T (p.Thr2137Ser)
c.6334A>T (p.Thr2112Ser)
c.5929A>T (p.Thr1977Ser)
c.5287A>T (p.Thr1763Ser)
c.2797A>T (p.Thr933Ser)
n.6712A>T
10g.71793203C>ACA377153974CDH23c.6275C>A (p.Thr2092Lys)
c.6290C>A (p.Thr2097Lys)
c.6470C>A (p.Thr2157Lys)
c.6404C>A (p.Thr2135Lys)
c.6467C>A (p.Thr2156Lys)
c.6464C>A (p.Thr2155Lys)
c.6410C>A (p.Thr2137Lys)
c.6335C>A (p.Thr2112Lys)
c.5930C>A (p.Thr1977Lys)
c.5288C>A (p.Thr1763Lys)
c.2798C>A (p.Thr933Lys)
n.6713C>A
10g.71793203C=CA1918874131CDH23c.6275C= (p.Thr2092=)
c.6290C= (p.Thr2097=)
c.6470C= (p.Thr2157=)
c.6404C= (p.Thr2135=)
c.6467C= (p.Thr2156=)
c.6464C= (p.Thr2155=)
c.6410C= (p.Thr2137=)
c.6335C= (p.Thr2112=)
c.5930C= (p.Thr1977=)
c.5288C= (p.Thr1763=)
c.2798C= (p.Thr933=)
n.6713C=
10g.71793203C>GCA377153975CDH23c.6275C>G (p.Thr2092Arg)
c.6290C>G (p.Thr2097Arg)
c.6470C>G (p.Thr2157Arg)
c.6404C>G (p.Thr2135Arg)
c.6467C>G (p.Thr2156Arg)
c.6464C>G (p.Thr2155Arg)
c.6410C>G (p.Thr2137Arg)
c.6335C>G (p.Thr2112Arg)
c.5930C>G (p.Thr1977Arg)
c.5288C>G (p.Thr1763Arg)
c.2798C>G (p.Thr933Arg)
n.6713C>G
10g.71793203C>TCA5546048CDH23c.6275C>T (p.Thr2092Ile)
c.6290C>T (p.Thr2097Ile)
c.6470C>T (p.Thr2157Ile)
c.6404C>T (p.Thr2135Ile)
c.6467C>T (p.Thr2156Ile)
c.6464C>T (p.Thr2155Ile)
c.6410C>T (p.Thr2137Ile)
c.6335C>T (p.Thr2112Ile)
c.5930C>T (p.Thr1977Ile)
c.5288C>T (p.Thr1763Ile)
c.2798C>T (p.Thr933Ile)
n.6713C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793205G>ACA377153977CDH23c.6277G>A (p.Ala2093Thr)
c.6292G>A (p.Ala2098Thr)
c.6472G>A (p.Ala2158Thr)
c.6406G>A (p.Ala2136Thr)
c.6469G>A (p.Ala2157Thr)
c.6466G>A (p.Ala2156Thr)
c.6412G>A (p.Ala2138Thr)
c.6337G>A (p.Ala2113Thr)
c.5932G>A (p.Ala1978Thr)
c.5290G>A (p.Ala1764Thr)
c.2800G>A (p.Ala934Thr)
n.6715G>A
 dbSNP gnomAD v4 COSMIC
10g.71793205G>CCA377153979CDH23c.6277G>C (p.Ala2093Pro)
c.6292G>C (p.Ala2098Pro)
c.6472G>C (p.Ala2158Pro)
c.6406G>C (p.Ala2136Pro)
c.6469G>C (p.Ala2157Pro)
c.6466G>C (p.Ala2156Pro)
c.6412G>C (p.Ala2138Pro)
c.6337G>C (p.Ala2113Pro)
c.5932G>C (p.Ala1978Pro)
c.5290G>C (p.Ala1764Pro)
c.2800G>C (p.Ala934Pro)
n.6715G>C
 dbSNP
10g.71793205G>TCA377153981CDH23c.6277G>T (p.Ala2093Ser)
c.6292G>T (p.Ala2098Ser)
c.6472G>T (p.Ala2158Ser)
c.6406G>T (p.Ala2136Ser)
c.6469G>T (p.Ala2157Ser)
c.6466G>T (p.Ala2156Ser)
c.6412G>T (p.Ala2138Ser)
c.6337G>T (p.Ala2113Ser)
c.5932G>T (p.Ala1978Ser)
c.5290G>T (p.Ala1764Ser)
c.2800G>T (p.Ala934Ser)
n.6715G>T
10g.71793206C>ACA377153983CDH23c.6278C>A (p.Ala2093Asp)
c.6293C>A (p.Ala2098Asp)
c.6473C>A (p.Ala2158Asp)
c.6407C>A (p.Ala2136Asp)
c.6470C>A (p.Ala2157Asp)
c.6467C>A (p.Ala2156Asp)
c.6413C>A (p.Ala2138Asp)
c.6338C>A (p.Ala2113Asp)
c.5933C>A (p.Ala1978Asp)
c.5291C>A (p.Ala1764Asp)
c.2801C>A (p.Ala934Asp)
n.6716C>A
10g.71793206C>GCA377153986CDH23c.6278C>G (p.Ala2093Gly)
c.6293C>G (p.Ala2098Gly)
c.6473C>G (p.Ala2158Gly)
c.6407C>G (p.Ala2136Gly)
c.6470C>G (p.Ala2157Gly)
c.6467C>G (p.Ala2156Gly)
c.6413C>G (p.Ala2138Gly)
c.6338C>G (p.Ala2113Gly)
c.5933C>G (p.Ala1978Gly)
c.5291C>G (p.Ala1764Gly)
c.2801C>G (p.Ala934Gly)
n.6716C>G
10g.71793206C>TCA377153988CDH23c.6278C>T (p.Ala2093Val)
c.6293C>T (p.Ala2098Val)
c.6473C>T (p.Ala2158Val)
c.6407C>T (p.Ala2136Val)
c.6470C>T (p.Ala2157Val)
c.6467C>T (p.Ala2156Val)
c.6413C>T (p.Ala2138Val)
c.6338C>T (p.Ala2113Val)
c.5933C>T (p.Ala1978Val)
c.5291C>T (p.Ala1764Val)
c.2801C>T (p.Ala934Val)
n.6716C>T
10g.71793207C>TCA2499220347CDH23c.6279C>T (p.Ala2093=)
c.6294C>T (p.Ala2098=)
c.6474C>T (p.Ala2158=)
c.6408C>T (p.Ala2136=)
c.6471C>T (p.Ala2157=)
c.6468C>T (p.Ala2156=)
c.6414C>T (p.Ala2138=)
c.6339C>T (p.Ala2113=)
c.5934C>T (p.Ala1978=)
c.5292C>T (p.Ala1764=)
c.2802C>T (p.Ala934=)
n.6717C>T
 ClinVar dbSNP
10g.71793207_71793212delCA2788485457CDH23c.6279_6284del (p.Thr2094_Asp2095del)
c.6294_6299del (p.Thr2099_Asp2100del)
c.6474_6479del (p.Thr2159_Asp2160del)
c.6408_6413del (p.Thr2137_Asp2138del)
c.6471_6476del (p.Thr2158_Asp2159del)
c.6468_6473del (p.Thr2157_Asp2158del)
c.6414_6419del (p.Thr2139_Asp2140del)
c.6339_6344del (p.Thr2114_Asp2115del)
c.5934_5939del (p.Thr1979_Asp1980del)
c.5292_5297del (p.Thr1765_Asp1766del)
c.2802_2807del (p.Thr935_Asp936del)
n.6717_6722del
10g.71793208A>CCA377153989CDH23c.6280A>C (p.Thr2094Pro)
c.6295A>C (p.Thr2099Pro)
c.6475A>C (p.Thr2159Pro)
c.6409A>C (p.Thr2137Pro)
c.6472A>C (p.Thr2158Pro)
c.6469A>C (p.Thr2157Pro)
c.6415A>C (p.Thr2139Pro)
c.6340A>C (p.Thr2114Pro)
c.5935A>C (p.Thr1979Pro)
c.5293A>C (p.Thr1765Pro)
c.2803A>C (p.Thr935Pro)
n.6718A>C
10g.71793208A>GCA377153995CDH23c.6280A>G (p.Thr2094Ala)
c.6295A>G (p.Thr2099Ala)
c.6475A>G (p.Thr2159Ala)
c.6409A>G (p.Thr2137Ala)
c.6472A>G (p.Thr2158Ala)
c.6469A>G (p.Thr2157Ala)
c.6415A>G (p.Thr2139Ala)
c.6340A>G (p.Thr2114Ala)
c.5935A>G (p.Thr1979Ala)
c.5293A>G (p.Thr1765Ala)
c.2803A>G (p.Thr935Ala)
n.6718A>G
10g.71793208A>TCA377153996CDH23c.6280A>T (p.Thr2094Ser)
c.6295A>T (p.Thr2099Ser)
c.6475A>T (p.Thr2159Ser)
c.6409A>T (p.Thr2137Ser)
c.6472A>T (p.Thr2158Ser)
c.6469A>T (p.Thr2157Ser)
c.6415A>T (p.Thr2139Ser)
c.6340A>T (p.Thr2114Ser)
c.5935A>T (p.Thr1979Ser)
c.5293A>T (p.Thr1765Ser)
c.2803A>T (p.Thr935Ser)
n.6718A>T
10g.71793209C>ACA209465948CDH23c.6281C>A (p.Thr2094Lys)
c.6296C>A (p.Thr2099Lys)
c.6476C>A (p.Thr2159Lys)
c.6410C>A (p.Thr2137Lys)
c.6473C>A (p.Thr2158Lys)
c.6470C>A (p.Thr2157Lys)
c.6416C>A (p.Thr2139Lys)
c.6341C>A (p.Thr2114Lys)
c.5936C>A (p.Thr1979Lys)
c.5294C>A (p.Thr1765Lys)
c.2804C>A (p.Thr935Lys)
n.6719C>A
 dbSNP
10g.71793209C=CA1918874133CDH23c.6281C= (p.Thr2094=)
c.6296C= (p.Thr2099=)
c.6476C= (p.Thr2159=)
c.6410C= (p.Thr2137=)
c.6473C= (p.Thr2158=)
c.6470C= (p.Thr2157=)
c.6416C= (p.Thr2139=)
c.6341C= (p.Thr2114=)
c.5936C= (p.Thr1979=)
c.5294C= (p.Thr1765=)
c.2804C= (p.Thr935=)
n.6719C=
10g.71793209C>GCA377154002CDH23c.6281C>G (p.Thr2094Arg)
c.6296C>G (p.Thr2099Arg)
c.6476C>G (p.Thr2159Arg)
c.6410C>G (p.Thr2137Arg)
c.6473C>G (p.Thr2158Arg)
c.6470C>G (p.Thr2157Arg)
c.6416C>G (p.Thr2139Arg)
c.6341C>G (p.Thr2114Arg)
c.5936C>G (p.Thr1979Arg)
c.5294C>G (p.Thr1765Arg)
c.2804C>G (p.Thr935Arg)
n.6719C>G
10g.71793209C>TCA377154003CDH23c.6281C>T (p.Thr2094Ile)
c.6296C>T (p.Thr2099Ile)
c.6476C>T (p.Thr2159Ile)
c.6410C>T (p.Thr2137Ile)
c.6473C>T (p.Thr2158Ile)
c.6470C>T (p.Thr2157Ile)
c.6416C>T (p.Thr2139Ile)
c.6341C>T (p.Thr2114Ile)
c.5936C>T (p.Thr1979Ile)
c.5294C>T (p.Thr1765Ile)
c.2804C>T (p.Thr935Ile)
n.6719C>T
10g.71793210A>GCA2609580281CDH23c.6282A>G (p.Thr2094=)
c.6297A>G (p.Thr2099=)
c.6477A>G (p.Thr2159=)
c.6411A>G (p.Thr2137=)
c.6474A>G (p.Thr2158=)
c.6471A>G (p.Thr2157=)
c.6417A>G (p.Thr2139=)
c.6342A>G (p.Thr2114=)
c.5937A>G (p.Thr1979=)
c.5295A>G (p.Thr1765=)
c.2805A>G (p.Thr935=)
n.6720A>G
 ClinVar gnomAD v4
10g.71793211G>ACA377154014CDH23c.6283G>A (p.Asp2095Asn)
c.6298G>A (p.Asp2100Asn)
c.6478G>A (p.Asp2160Asn)
c.6412G>A (p.Asp2138Asn)
c.6475G>A (p.Asp2159Asn)
c.6472G>A (p.Asp2158Asn)
c.6418G>A (p.Asp2140Asn)
c.6343G>A (p.Asp2115Asn)
c.5938G>A (p.Asp1980Asn)
c.5296G>A (p.Asp1766Asn)
c.2806G>A (p.Asp936Asn)
n.6721G>A
10g.71793211G>CCA377154007CDH23c.6283G>C (p.Asp2095His)
c.6298G>C (p.Asp2100His)
c.6478G>C (p.Asp2160His)
c.6412G>C (p.Asp2138His)
c.6475G>C (p.Asp2159His)
c.6472G>C (p.Asp2158His)
c.6418G>C (p.Asp2140His)
c.6343G>C (p.Asp2115His)
c.5938G>C (p.Asp1980His)
c.5296G>C (p.Asp1766His)
c.2806G>C (p.Asp936His)
n.6721G>C
10g.71793211G>TCA377154010CDH23c.6283G>T (p.Asp2095Tyr)
c.6298G>T (p.Asp2100Tyr)
c.6478G>T (p.Asp2160Tyr)
c.6412G>T (p.Asp2138Tyr)
c.6475G>T (p.Asp2159Tyr)
c.6472G>T (p.Asp2158Tyr)
c.6418G>T (p.Asp2140Tyr)
c.6343G>T (p.Asp2115Tyr)
c.5938G>T (p.Asp1980Tyr)
c.5296G>T (p.Asp1766Tyr)
c.2806G>T (p.Asp936Tyr)
n.6721G>T
10g.71793212A=CA1918874134CDH23c.6284A= (p.Asp2095=)
c.6299A= (p.Asp2100=)
c.6479A= (p.Asp2160=)
c.6413A= (p.Asp2138=)
c.6476A= (p.Asp2159=)
c.6473A= (p.Asp2158=)
c.6419A= (p.Asp2140=)
c.6344A= (p.Asp2115=)
c.5939A= (p.Asp1980=)
c.5297A= (p.Asp1766=)
c.2807A= (p.Asp936=)
n.6722A=
10g.71793212A>CCA377154015CDH23c.6284A>C (p.Asp2095Ala)
c.6299A>C (p.Asp2100Ala)
c.6479A>C (p.Asp2160Ala)
c.6413A>C (p.Asp2138Ala)
c.6476A>C (p.Asp2159Ala)
c.6473A>C (p.Asp2158Ala)
c.6419A>C (p.Asp2140Ala)
c.6344A>C (p.Asp2115Ala)
c.5939A>C (p.Asp1980Ala)
c.5297A>C (p.Asp1766Ala)
c.2807A>C (p.Asp936Ala)
n.6722A>C
10g.71793212A>GCA377154016CDH23c.6284A>G (p.Asp2095Gly)
c.6299A>G (p.Asp2100Gly)
c.6479A>G (p.Asp2160Gly)
c.6413A>G (p.Asp2138Gly)
c.6476A>G (p.Asp2159Gly)
c.6473A>G (p.Asp2158Gly)
c.6419A>G (p.Asp2140Gly)
c.6344A>G (p.Asp2115Gly)
c.5939A>G (p.Asp1980Gly)
c.5297A>G (p.Asp1766Gly)
c.2807A>G (p.Asp936Gly)
n.6722A>G
10g.71793212A>TCA377154017CDH23c.6284A>T (p.Asp2095Val)
c.6299A>T (p.Asp2100Val)
c.6479A>T (p.Asp2160Val)
c.6413A>T (p.Asp2138Val)
c.6476A>T (p.Asp2159Val)
c.6473A>T (p.Asp2158Val)
c.6419A>T (p.Asp2140Val)
c.6344A>T (p.Asp2115Val)
c.5939A>T (p.Asp1980Val)
c.5297A>T (p.Asp1766Val)
c.2807A>T (p.Asp936Val)
n.6722A>T
10g.71793213T>ACA377154020CDH23c.6285T>A (p.Asp2095Glu)
c.6300T>A (p.Asp2100Glu)
c.6480T>A (p.Asp2160Glu)
c.6414T>A (p.Asp2138Glu)
c.6477T>A (p.Asp2159Glu)
c.6474T>A (p.Asp2158Glu)
c.6420T>A (p.Asp2140Glu)
c.6345T>A (p.Asp2115Glu)
c.5940T>A (p.Asp1980Glu)
c.5298T>A (p.Asp1766Glu)
c.2808T>A (p.Asp936Glu)
n.6723T>A
10g.71793213T>GCA377154023CDH23c.6285T>G (p.Asp2095Glu)
c.6300T>G (p.Asp2100Glu)
c.6480T>G (p.Asp2160Glu)
c.6414T>G (p.Asp2138Glu)
c.6477T>G (p.Asp2159Glu)
c.6474T>G (p.Asp2158Glu)
c.6420T>G (p.Asp2140Glu)
c.6345T>G (p.Asp2115Glu)
c.5940T>G (p.Asp1980Glu)
c.5298T>G (p.Asp1766Glu)
c.2808T>G (p.Asp936Glu)
n.6723T>G
10g.71793213dupCA658822201CDH23c.6285dup (p.Glu2096Ter)
c.6300dup (p.Glu2101Ter)
c.6480dup (p.Glu2161Ter)
c.6414dup (p.Glu2139Ter)
c.6477dup (p.Glu2160Ter)
c.6474dup (p.Glu2159Ter)
c.6420dup (p.Glu2141Ter)
c.6345dup (p.Glu2116Ter)
c.5940dup (p.Glu1981Ter)
c.5298dup (p.Glu1767Ter)
c.2808dup (p.Glu937Ter)
n.6723dup
 ClinVar dbSNP gnomAD v4
10g.71793214G>ACA5546049CDH23c.6286G>A (p.Glu2096Lys)
c.6301G>A (p.Glu2101Lys)
c.6481G>A (p.Glu2161Lys)
c.6415G>A (p.Glu2139Lys)
c.6478G>A (p.Glu2160Lys)
c.6475G>A (p.Glu2159Lys)
c.6421G>A (p.Glu2141Lys)
c.6346G>A (p.Glu2116Lys)
c.5941G>A (p.Glu1981Lys)
c.5299G>A (p.Glu1767Lys)
c.2809G>A (p.Glu937Lys)
n.6724G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793214G>CCA377154026CDH23c.6286G>C (p.Glu2096Gln)
c.6301G>C (p.Glu2101Gln)
c.6481G>C (p.Glu2161Gln)
c.6415G>C (p.Glu2139Gln)
c.6478G>C (p.Glu2160Gln)
c.6475G>C (p.Glu2159Gln)
c.6421G>C (p.Glu2141Gln)
c.6346G>C (p.Glu2116Gln)
c.5941G>C (p.Glu1981Gln)
c.5299G>C (p.Glu1767Gln)
c.2809G>C (p.Glu937Gln)
n.6724G>C
10g.71793214G=CA1918874137CDH23c.6286G= (p.Glu2096=)
c.6301G= (p.Glu2101=)
c.6481G= (p.Glu2161=)
c.6415G= (p.Glu2139=)
c.6478G= (p.Glu2160=)
c.6475G= (p.Glu2159=)
c.6421G= (p.Glu2141=)
c.6346G= (p.Glu2116=)
c.5941G= (p.Glu1981=)
c.5299G= (p.Glu1767=)
c.2809G= (p.Glu937=)
n.6724G=
10g.71793214G>TCA377154028CDH23c.6286G>T (p.Glu2096Ter)
c.6301G>T (p.Glu2101Ter)
c.6481G>T (p.Glu2161Ter)
c.6415G>T (p.Glu2139Ter)
c.6478G>T (p.Glu2160Ter)
c.6475G>T (p.Glu2159Ter)
c.6421G>T (p.Glu2141Ter)
c.6346G>T (p.Glu2116Ter)
c.5941G>T (p.Glu1981Ter)
c.5299G>T (p.Glu1767Ter)
c.2809G>T (p.Glu937Ter)
n.6724G>T
10g.71793215A>CCA377154033CDH23c.6287A>C (p.Glu2096Ala)
c.6302A>C (p.Glu2101Ala)
c.6482A>C (p.Glu2161Ala)
c.6416A>C (p.Glu2139Ala)
c.6479A>C (p.Glu2160Ala)
c.6476A>C (p.Glu2159Ala)
c.6422A>C (p.Glu2141Ala)
c.6347A>C (p.Glu2116Ala)
c.5942A>C (p.Glu1981Ala)
c.5300A>C (p.Glu1767Ala)
c.2810A>C (p.Glu937Ala)
n.6725A>C
10g.71793215A>GCA377154034CDH23c.6287A>G (p.Glu2096Gly)
c.6302A>G (p.Glu2101Gly)
c.6482A>G (p.Glu2161Gly)
c.6416A>G (p.Glu2139Gly)
c.6479A>G (p.Glu2160Gly)
c.6476A>G (p.Glu2159Gly)
c.6422A>G (p.Glu2141Gly)
c.6347A>G (p.Glu2116Gly)
c.5942A>G (p.Glu1981Gly)
c.5300A>G (p.Glu1767Gly)
c.2810A>G (p.Glu937Gly)
n.6725A>G
10g.71793215A>TCA377154041CDH23c.6287A>T (p.Glu2096Val)
c.6302A>T (p.Glu2101Val)
c.6482A>T (p.Glu2161Val)
c.6416A>T (p.Glu2139Val)
c.6479A>T (p.Glu2160Val)
c.6476A>T (p.Glu2159Val)
c.6422A>T (p.Glu2141Val)
c.6347A>T (p.Glu2116Val)
c.5942A>T (p.Glu1981Val)
c.5300A>T (p.Glu1767Val)
c.2810A>T (p.Glu937Val)
n.6725A>T
10g.71793216G>CCA377154047CDH23c.6288G>C (p.Glu2096Asp)
c.6303G>C (p.Glu2101Asp)
c.6483G>C (p.Glu2161Asp)
c.6417G>C (p.Glu2139Asp)
c.6480G>C (p.Glu2160Asp)
c.6477G>C (p.Glu2159Asp)
c.6423G>C (p.Glu2141Asp)
c.6348G>C (p.Glu2116Asp)
c.5943G>C (p.Glu1981Asp)
c.5301G>C (p.Glu1767Asp)
c.2811G>C (p.Glu937Asp)
n.6726G>C
10g.71793216G>TCA377154043CDH23c.6288G>T (p.Glu2096Asp)
c.6303G>T (p.Glu2101Asp)
c.6483G>T (p.Glu2161Asp)
c.6417G>T (p.Glu2139Asp)
c.6480G>T (p.Glu2160Asp)
c.6477G>T (p.Glu2159Asp)
c.6423G>T (p.Glu2141Asp)
c.6348G>T (p.Glu2116Asp)
c.5943G>T (p.Glu1981Asp)
c.5301G>T (p.Glu1767Asp)
c.2811G>T (p.Glu937Asp)
n.6726G>T
10g.71793217G>ACA209465957CDH23c.6289G>A (p.Asp2097Asn)
c.6304G>A (p.Asp2102Asn)
c.6484G>A (p.Asp2162Asn)
c.6418G>A (p.Asp2140Asn)
c.6481G>A (p.Asp2161Asn)
c.6478G>A (p.Asp2160Asn)
c.6424G>A (p.Asp2142Asn)
c.6349G>A (p.Asp2117Asn)
c.5944G>A (p.Asp1982Asn)
c.5302G>A (p.Asp1768Asn)
c.2812G>A (p.Asp938Asn)
n.6727G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793217G>CCA377154065CDH23c.6289G>C (p.Asp2097His)
c.6304G>C (p.Asp2102His)
c.6484G>C (p.Asp2162His)
c.6418G>C (p.Asp2140His)
c.6481G>C (p.Asp2161His)
c.6478G>C (p.Asp2160His)
c.6424G>C (p.Asp2142His)
c.6349G>C (p.Asp2117His)
c.5944G>C (p.Asp1982His)
c.5302G>C (p.Asp1768His)
c.2812G>C (p.Asp938His)
n.6727G>C
 dbSNP
10g.71793217G=CA1918874139CDH23c.6289G= (p.Asp2097=)
c.6304G= (p.Asp2102=)
c.6484G= (p.Asp2162=)
c.6418G= (p.Asp2140=)
c.6481G= (p.Asp2161=)
c.6478G= (p.Asp2160=)
c.6424G= (p.Asp2142=)
c.6349G= (p.Asp2117=)
c.5944G= (p.Asp1982=)
c.5302G= (p.Asp1768=)
c.2812G= (p.Asp938=)
n.6727G=
10g.71793217G>TCA377154066CDH23c.6289G>T (p.Asp2097Tyr)
c.6304G>T (p.Asp2102Tyr)
c.6484G>T (p.Asp2162Tyr)
c.6418G>T (p.Asp2140Tyr)
c.6481G>T (p.Asp2161Tyr)
c.6478G>T (p.Asp2160Tyr)
c.6424G>T (p.Asp2142Tyr)
c.6349G>T (p.Asp2117Tyr)
c.5944G>T (p.Asp1982Tyr)
c.5302G>T (p.Asp1768Tyr)
c.2812G>T (p.Asp938Tyr)
n.6727G>T
10g.71793218A>CCA377154072CDH23c.6290A>C (p.Asp2097Ala)
c.6305A>C (p.Asp2102Ala)
c.6485A>C (p.Asp2162Ala)
c.6419A>C (p.Asp2140Ala)
c.6482A>C (p.Asp2161Ala)
c.6479A>C (p.Asp2160Ala)
c.6425A>C (p.Asp2142Ala)
c.6350A>C (p.Asp2117Ala)
c.5945A>C (p.Asp1982Ala)
c.5303A>C (p.Asp1768Ala)
c.2813A>C (p.Asp938Ala)
n.6728A>C
10g.71793218A>GCA377154074CDH23c.6290A>G (p.Asp2097Gly)
c.6305A>G (p.Asp2102Gly)
c.6485A>G (p.Asp2162Gly)
c.6419A>G (p.Asp2140Gly)
c.6482A>G (p.Asp2161Gly)
c.6479A>G (p.Asp2160Gly)
c.6425A>G (p.Asp2142Gly)
c.6350A>G (p.Asp2117Gly)
c.5945A>G (p.Asp1982Gly)
c.5303A>G (p.Asp1768Gly)
c.2813A>G (p.Asp938Gly)
n.6728A>G
10g.71793218A>TCA377154077CDH23c.6290A>T (p.Asp2097Val)
c.6305A>T (p.Asp2102Val)
c.6485A>T (p.Asp2162Val)
c.6419A>T (p.Asp2140Val)
c.6482A>T (p.Asp2161Val)
c.6479A>T (p.Asp2160Val)
c.6425A>T (p.Asp2142Val)
c.6350A>T (p.Asp2117Val)
c.5945A>T (p.Asp1982Val)
c.5303A>T (p.Asp1768Val)
c.2813A>T (p.Asp938Val)
n.6728A>T
 gnomAD v4
10g.71793219C>ACA377154078CDH23c.6291C>A (p.Asp2097Glu)
c.6306C>A (p.Asp2102Glu)
c.6486C>A (p.Asp2162Glu)
c.6420C>A (p.Asp2140Glu)
c.6483C>A (p.Asp2161Glu)
c.6480C>A (p.Asp2160Glu)
c.6426C>A (p.Asp2142Glu)
c.6351C>A (p.Asp2117Glu)
c.5946C>A (p.Asp1982Glu)
c.5304C>A (p.Asp1768Glu)
c.2814C>A (p.Asp938Glu)
n.6729C>A
10g.71793219C>GCA377154082CDH23c.6291C>G (p.Asp2097Glu)
c.6306C>G (p.Asp2102Glu)
c.6486C>G (p.Asp2162Glu)
c.6420C>G (p.Asp2140Glu)
c.6483C>G (p.Asp2161Glu)
c.6480C>G (p.Asp2160Glu)
c.6426C>G (p.Asp2142Glu)
c.6351C>G (p.Asp2117Glu)
c.5946C>G (p.Asp1982Glu)
c.5304C>G (p.Asp1768Glu)
c.2814C>G (p.Asp938Glu)
n.6729C>G
 gnomAD v4
10g.71793220A=CA1918874141CDH23c.6292A= (p.Ser2098=)
c.6307A= (p.Ser2103=)
c.6487A= (p.Ser2163=)
c.6421A= (p.Ser2141=)
c.6484A= (p.Ser2162=)
c.6481A= (p.Ser2161=)
c.6427A= (p.Ser2143=)
c.6352A= (p.Ser2118=)
c.5947A= (p.Ser1983=)
c.5305A= (p.Ser1769=)
c.2815A= (p.Ser939=)
n.6730A=
10g.71793220A>CCA377154088CDH23c.6292A>C (p.Ser2098Arg)
c.6307A>C (p.Ser2103Arg)
c.6487A>C (p.Ser2163Arg)
c.6421A>C (p.Ser2141Arg)
c.6484A>C (p.Ser2162Arg)
c.6481A>C (p.Ser2161Arg)
c.6427A>C (p.Ser2143Arg)
c.6352A>C (p.Ser2118Arg)
c.5947A>C (p.Ser1983Arg)
c.5305A>C (p.Ser1769Arg)
c.2815A>C (p.Ser939Arg)
n.6730A>C
10g.71793220A>GCA5546050CDH23c.6292A>G (p.Ser2098Gly)
c.6307A>G (p.Ser2103Gly)
c.6487A>G (p.Ser2163Gly)
c.6421A>G (p.Ser2141Gly)
c.6484A>G (p.Ser2162Gly)
c.6481A>G (p.Ser2161Gly)
c.6427A>G (p.Ser2143Gly)
c.6352A>G (p.Ser2118Gly)
c.5947A>G (p.Ser1983Gly)
c.5305A>G (p.Ser1769Gly)
c.2815A>G (p.Ser939Gly)
n.6730A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793220A>TCA377154095CDH23c.6292A>T (p.Ser2098Cys)
c.6307A>T (p.Ser2103Cys)
c.6487A>T (p.Ser2163Cys)
c.6421A>T (p.Ser2141Cys)
c.6484A>T (p.Ser2162Cys)
c.6481A>T (p.Ser2161Cys)
c.6427A>T (p.Ser2143Cys)
c.6352A>T (p.Ser2118Cys)
c.5947A>T (p.Ser1983Cys)
c.5305A>T (p.Ser1769Cys)
c.2815A>T (p.Ser939Cys)
n.6730A>T
10g.71793221G>ACA377154098CDH23c.6293G>A (p.Ser2098Asn)
c.6308G>A (p.Ser2103Asn)
c.6488G>A (p.Ser2163Asn)
c.6422G>A (p.Ser2141Asn)
c.6485G>A (p.Ser2162Asn)
c.6482G>A (p.Ser2161Asn)
c.6428G>A (p.Ser2143Asn)
c.6353G>A (p.Ser2118Asn)
c.5948G>A (p.Ser1983Asn)
c.5306G>A (p.Ser1769Asn)
c.2816G>A (p.Ser939Asn)
n.6731G>A
 gnomAD v4
10g.71793221G>CCA377154102CDH23c.6293G>C (p.Ser2098Thr)
c.6308G>C (p.Ser2103Thr)
c.6488G>C (p.Ser2163Thr)
c.6422G>C (p.Ser2141Thr)
c.6485G>C (p.Ser2162Thr)
c.6482G>C (p.Ser2161Thr)
c.6428G>C (p.Ser2143Thr)
c.6353G>C (p.Ser2118Thr)
c.5948G>C (p.Ser1983Thr)
c.5306G>C (p.Ser1769Thr)
c.2816G>C (p.Ser939Thr)
n.6731G>C
10g.71793221G>TCA377154103CDH23c.6293G>T (p.Ser2098Ile)
c.6308G>T (p.Ser2103Ile)
c.6488G>T (p.Ser2163Ile)
c.6422G>T (p.Ser2141Ile)
c.6485G>T (p.Ser2162Ile)
c.6482G>T (p.Ser2161Ile)
c.6428G>T (p.Ser2143Ile)
c.6353G>T (p.Ser2118Ile)
c.5948G>T (p.Ser1983Ile)
c.5306G>T (p.Ser1769Ile)
c.2816G>T (p.Ser939Ile)
n.6731G>T
10g.71793222T>ACA377154106CDH23c.6294T>A (p.Ser2098Arg)
c.6309T>A (p.Ser2103Arg)
c.6489T>A (p.Ser2163Arg)
c.6423T>A (p.Ser2141Arg)
c.6486T>A (p.Ser2162Arg)
c.6483T>A (p.Ser2161Arg)
c.6429T>A (p.Ser2143Arg)
c.6354T>A (p.Ser2118Arg)
c.5949T>A (p.Ser1983Arg)
c.5307T>A (p.Ser1769Arg)
c.2817T>A (p.Ser939Arg)
n.6732T>A
 dbSNP
10g.71793222T>CCA2739275741CDH23c.6294T>C (p.Ser2098=)
c.6309T>C (p.Ser2103=)
c.6489T>C (p.Ser2163=)
c.6423T>C (p.Ser2141=)
c.6486T>C (p.Ser2162=)
c.6483T>C (p.Ser2161=)
c.6429T>C (p.Ser2143=)
c.6354T>C (p.Ser2118=)
c.5949T>C (p.Ser1983=)
c.5307T>C (p.Ser1769=)
c.2817T>C (p.Ser939=)
n.6732T>C
 ClinVar
10g.71793222T>GCA377154107CDH23c.6294T>G (p.Ser2098Arg)
c.6309T>G (p.Ser2103Arg)
c.6489T>G (p.Ser2163Arg)
c.6423T>G (p.Ser2141Arg)
c.6486T>G (p.Ser2162Arg)
c.6483T>G (p.Ser2161Arg)
c.6429T>G (p.Ser2143Arg)
c.6354T>G (p.Ser2118Arg)
c.5949T>G (p.Ser1983Arg)
c.5307T>G (p.Ser1769Arg)
c.2817T>G (p.Ser939Arg)
n.6732T>G
10g.71793223G>ACA377154111CDH23c.6295G>A (p.Gly2099Ser)
c.6310G>A (p.Gly2104Ser)
c.6490G>A (p.Gly2164Ser)
c.6424G>A (p.Gly2142Ser)
c.6487G>A (p.Gly2163Ser)
c.6484G>A (p.Gly2162Ser)
c.6430G>A (p.Gly2144Ser)
c.6355G>A (p.Gly2119Ser)
c.5950G>A (p.Gly1984Ser)
c.5308G>A (p.Gly1770Ser)
c.2818G>A (p.Gly940Ser)
n.6733G>A
10g.71793223G>CCA377154112CDH23c.6295G>C (p.Gly2099Arg)
c.6310G>C (p.Gly2104Arg)
c.6490G>C (p.Gly2164Arg)
c.6424G>C (p.Gly2142Arg)
c.6487G>C (p.Gly2163Arg)
c.6484G>C (p.Gly2162Arg)
c.6430G>C (p.Gly2144Arg)
c.6355G>C (p.Gly2119Arg)
c.5950G>C (p.Gly1984Arg)
c.5308G>C (p.Gly1770Arg)
c.2818G>C (p.Gly940Arg)
n.6733G>C
10g.71793223G>TCA377154113CDH23c.6295G>T (p.Gly2099Cys)
c.6310G>T (p.Gly2104Cys)
c.6490G>T (p.Gly2164Cys)
c.6424G>T (p.Gly2142Cys)
c.6487G>T (p.Gly2163Cys)
c.6484G>T (p.Gly2162Cys)
c.6430G>T (p.Gly2144Cys)
c.6355G>T (p.Gly2119Cys)
c.5950G>T (p.Gly1984Cys)
c.5308G>T (p.Gly1770Cys)
c.2818G>T (p.Gly940Cys)
n.6733G>T
10g.71793224G>ACA377154114CDH23c.6296G>A (p.Gly2099Asp)
c.6311G>A (p.Gly2104Asp)
c.6491G>A (p.Gly2164Asp)
c.6425G>A (p.Gly2142Asp)
c.6488G>A (p.Gly2163Asp)
c.6485G>A (p.Gly2162Asp)
c.6431G>A (p.Gly2144Asp)
c.6356G>A (p.Gly2119Asp)
c.5951G>A (p.Gly1984Asp)
c.5309G>A (p.Gly1770Asp)
c.2819G>A (p.Gly940Asp)
n.6734G>A
 dbSNP gnomAD v3 gnomAD v4
10g.71793224G>CCA377154115CDH23c.6296G>C (p.Gly2099Ala)
c.6311G>C (p.Gly2104Ala)
c.6491G>C (p.Gly2164Ala)
c.6425G>C (p.Gly2142Ala)
c.6488G>C (p.Gly2163Ala)
c.6485G>C (p.Gly2162Ala)
c.6431G>C (p.Gly2144Ala)
c.6356G>C (p.Gly2119Ala)
c.5951G>C (p.Gly1984Ala)
c.5309G>C (p.Gly1770Ala)
c.2819G>C (p.Gly940Ala)
n.6734G>C
10g.71793224G=CA1918874143CDH23c.6296G= (p.Gly2099=)
c.6311G= (p.Gly2104=)
c.6491G= (p.Gly2164=)
c.6425G= (p.Gly2142=)
c.6488G= (p.Gly2163=)
c.6485G= (p.Gly2162=)
c.6431G= (p.Gly2144=)
c.6356G= (p.Gly2119=)
c.5951G= (p.Gly1984=)
c.5309G= (p.Gly1770=)
c.2819G= (p.Gly940=)
n.6734G=
10g.71793224G>TCA377154117CDH23c.6296G>T (p.Gly2099Val)
c.6311G>T (p.Gly2104Val)
c.6491G>T (p.Gly2164Val)
c.6425G>T (p.Gly2142Val)
c.6488G>T (p.Gly2163Val)
c.6485G>T (p.Gly2162Val)
c.6431G>T (p.Gly2144Val)
c.6356G>T (p.Gly2119Val)
c.5951G>T (p.Gly1984Val)
c.5309G>T (p.Gly1770Val)
c.2819G>T (p.Gly940Val)
n.6734G>T
10g.71793225C>TCA2609580329CDH23c.6297C>T (p.Gly2099=)
c.6312C>T (p.Gly2104=)
c.6492C>T (p.Gly2164=)
c.6426C>T (p.Gly2142=)
c.6489C>T (p.Gly2163=)
c.6486C>T (p.Gly2162=)
c.6432C>T (p.Gly2144=)
c.6357C>T (p.Gly2119=)
c.5952C>T (p.Gly1984=)
c.5310C>T (p.Gly1770=)
c.2820C>T (p.Gly940=)
n.6735C>T
 gnomAD v4
10g.71793226C>ACA377154121CDH23c.6298C>A (p.Leu2100Ile)
c.6313C>A (p.Leu2105Ile)
c.6493C>A (p.Leu2165Ile)
c.6427C>A (p.Leu2143Ile)
c.6490C>A (p.Leu2164Ile)
c.6487C>A (p.Leu2163Ile)
c.6433C>A (p.Leu2145Ile)
c.6358C>A (p.Leu2120Ile)
c.5953C>A (p.Leu1985Ile)
c.5311C>A (p.Leu1771Ile)
c.2821C>A (p.Leu941Ile)
n.6736C>A
10g.71793226C>GCA377154122CDH23c.6298C>G (p.Leu2100Val)
c.6313C>G (p.Leu2105Val)
c.6493C>G (p.Leu2165Val)
c.6427C>G (p.Leu2143Val)
c.6490C>G (p.Leu2164Val)
c.6487C>G (p.Leu2163Val)
c.6433C>G (p.Leu2145Val)
c.6358C>G (p.Leu2120Val)
c.5953C>G (p.Leu1985Val)
c.5311C>G (p.Leu1771Val)
c.2821C>G (p.Leu941Val)
n.6736C>G
10g.71793226C>TCA377154125CDH23c.6298C>T (p.Leu2100Phe)
c.6313C>T (p.Leu2105Phe)
c.6493C>T (p.Leu2165Phe)
c.6427C>T (p.Leu2143Phe)
c.6490C>T (p.Leu2164Phe)
c.6487C>T (p.Leu2163Phe)
c.6433C>T (p.Leu2145Phe)
c.6358C>T (p.Leu2120Phe)
c.5953C>T (p.Leu1985Phe)
c.5311C>T (p.Leu1771Phe)
c.2821C>T (p.Leu941Phe)
n.6736C>T
10g.71793227T>ACA377154127CDH23c.6299T>A (p.Leu2100His)
c.6314T>A (p.Leu2105His)
c.6494T>A (p.Leu2165His)
c.6428T>A (p.Leu2143His)
c.6491T>A (p.Leu2164His)
c.6488T>A (p.Leu2163His)
c.6434T>A (p.Leu2145His)
c.6359T>A (p.Leu2120His)
c.5954T>A (p.Leu1985His)
c.5312T>A (p.Leu1771His)
c.2822T>A (p.Leu941His)
n.6737T>A
 dbSNP
10g.71793227T>CCA377154129CDH23c.6299T>C (p.Leu2100Pro)
c.6314T>C (p.Leu2105Pro)
c.6494T>C (p.Leu2165Pro)
c.6428T>C (p.Leu2143Pro)
c.6491T>C (p.Leu2164Pro)
c.6488T>C (p.Leu2163Pro)
c.6434T>C (p.Leu2145Pro)
c.6359T>C (p.Leu2120Pro)
c.5954T>C (p.Leu1985Pro)
c.5312T>C (p.Leu1771Pro)
c.2822T>C (p.Leu941Pro)
n.6737T>C
10g.71793227T>GCA377154132CDH23c.6299T>G (p.Leu2100Arg)
c.6314T>G (p.Leu2105Arg)
c.6494T>G (p.Leu2165Arg)
c.6428T>G (p.Leu2143Arg)
c.6491T>G (p.Leu2164Arg)
c.6488T>G (p.Leu2163Arg)
c.6434T>G (p.Leu2145Arg)
c.6359T>G (p.Leu2120Arg)
c.5954T>G (p.Leu1985Arg)
c.5312T>G (p.Leu1771Arg)
c.2822T>G (p.Leu941Arg)
n.6737T>G
10g.71793228C=CA1918874144CDH23c.6300C= (p.Leu2100=)
c.6315C= (p.Leu2105=)
c.6495C= (p.Leu2165=)
c.6429C= (p.Leu2143=)
c.6492C= (p.Leu2164=)
c.6489C= (p.Leu2163=)
c.6435C= (p.Leu2145=)
c.6360C= (p.Leu2120=)
c.5955C= (p.Leu1985=)
c.5313C= (p.Leu1771=)
c.2823C= (p.Leu941=)
n.6738C=
10g.71793228C>GCA2722285354CDH23c.6300C>G (p.Leu2100=)
c.6315C>G (p.Leu2105=)
c.6495C>G (p.Leu2165=)
c.6429C>G (p.Leu2143=)
c.6492C>G (p.Leu2164=)
c.6489C>G (p.Leu2163=)
c.6435C>G (p.Leu2145=)
c.6360C>G (p.Leu2120=)
c.5955C>G (p.Leu1985=)
c.5313C>G (p.Leu1771=)
c.2823C>G (p.Leu941=)
n.6738C>G
 dbSNP
10g.71793228C>TCA2609580336CDH23c.6300C>T (p.Leu2100=)
c.6315C>T (p.Leu2105=)
c.6495C>T (p.Leu2165=)
c.6429C>T (p.Leu2143=)
c.6492C>T (p.Leu2164=)
c.6489C>T (p.Leu2163=)
c.6435C>T (p.Leu2145=)
c.6360C>T (p.Leu2120=)
c.5955C>T (p.Leu1985=)
c.5313C>T (p.Leu1771=)
c.2823C>T (p.Leu941=)
n.6738C>T
 gnomAD v4
10g.71793229A=CA1918874146CDH23c.6301A= (p.Asn2101=)
c.6316A= (p.Asn2106=)
c.6496A= (p.Asn2166=)
c.6430A= (p.Asn2144=)
c.6493A= (p.Asn2165=)
c.6490A= (p.Asn2164=)
c.6436A= (p.Asn2146=)
c.6361A= (p.Asn2121=)
c.5956A= (p.Asn1986=)
c.5314A= (p.Asn1772=)
c.2824A= (p.Asn942=)
n.6739A=
10g.71793229A>CCA377154135CDH23c.6301A>C (p.Asn2101His)
c.6316A>C (p.Asn2106His)
c.6496A>C (p.Asn2166His)
c.6430A>C (p.Asn2144His)
c.6493A>C (p.Asn2165His)
c.6490A>C (p.Asn2164His)
c.6436A>C (p.Asn2146His)
c.6361A>C (p.Asn2121His)
c.5956A>C (p.Asn1986His)
c.5314A>C (p.Asn1772His)
c.2824A>C (p.Asn942His)
n.6739A>C
10g.71793229A>GCA5546051CDH23c.6301A>G (p.Asn2101Asp)
c.6316A>G (p.Asn2106Asp)
c.6496A>G (p.Asn2166Asp)
c.6430A>G (p.Asn2144Asp)
c.6493A>G (p.Asn2165Asp)
c.6490A>G (p.Asn2164Asp)
c.6436A>G (p.Asn2146Asp)
c.6361A>G (p.Asn2121Asp)
c.5956A>G (p.Asn1986Asp)
c.5314A>G (p.Asn1772Asp)
c.2824A>G (p.Asn942Asp)
n.6739A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793229A>TCA377154146CDH23c.6301A>T (p.Asn2101Tyr)
c.6316A>T (p.Asn2106Tyr)
c.6496A>T (p.Asn2166Tyr)
c.6430A>T (p.Asn2144Tyr)
c.6493A>T (p.Asn2165Tyr)
c.6490A>T (p.Asn2164Tyr)
c.6436A>T (p.Asn2146Tyr)
c.6361A>T (p.Asn2121Tyr)
c.5956A>T (p.Asn1986Tyr)
c.5314A>T (p.Asn1772Tyr)
c.2824A>T (p.Asn942Tyr)
n.6739A>T
10g.71793229_71793230dupCA929791260CDH23c.6301_6302dup (p.Asn2101LysfsTer9)
c.6316_6317dup (p.Asn2106LysfsTer9)
c.6496_6497dup (p.Asn2166LysfsTer9)
c.6430_6431dup (p.Asn2144LysfsTer9)
c.6493_6494dup (p.Asn2165LysfsTer9)
c.6490_6491dup (p.Asn2164LysfsTer9)
c.6436_6437dup (p.Asn2146LysfsTer9)
c.6361_6362dup (p.Asn2121LysfsTer9)
c.5956_5957dup (p.Asn1986LysfsTer9)
c.5314_5315dup (p.Asn1772LysfsTer9)
c.2824_2825dup (p.Asn942LysfsTer9)
n.6739_6740dup
 dbSNP gnomAD v3 gnomAD v4
10g.71793230A=CA1918874148CDH23c.6302A= (p.Asn2101=)
c.6317A= (p.Asn2106=)
c.6497A= (p.Asn2166=)
c.6431A= (p.Asn2144=)
c.6494A= (p.Asn2165=)
c.6491A= (p.Asn2164=)
c.6437A= (p.Asn2146=)
c.6362A= (p.Asn2121=)
c.5957A= (p.Asn1986=)
c.5315A= (p.Asn1772=)
c.2825A= (p.Asn942=)
n.6740A=
10g.71793230A>CCA377154159CDH23c.6302A>C (p.Asn2101Thr)
c.6317A>C (p.Asn2106Thr)
c.6497A>C (p.Asn2166Thr)
c.6431A>C (p.Asn2144Thr)
c.6494A>C (p.Asn2165Thr)
c.6491A>C (p.Asn2164Thr)
c.6437A>C (p.Asn2146Thr)
c.6362A>C (p.Asn2121Thr)
c.5957A>C (p.Asn1986Thr)
c.5315A>C (p.Asn1772Thr)
c.2825A>C (p.Asn942Thr)
n.6740A>C
10g.71793230A>GCA377154161CDH23c.6302A>G (p.Asn2101Ser)
c.6317A>G (p.Asn2106Ser)
c.6497A>G (p.Asn2166Ser)
c.6431A>G (p.Asn2144Ser)
c.6494A>G (p.Asn2165Ser)
c.6491A>G (p.Asn2164Ser)
c.6437A>G (p.Asn2146Ser)
c.6362A>G (p.Asn2121Ser)
c.5957A>G (p.Asn1986Ser)
c.5315A>G (p.Asn1772Ser)
c.2825A>G (p.Asn942Ser)
n.6740A>G
 dbSNP gnomAD v2 gnomAD v4
10g.71793230A>TCA377154160CDH23c.6302A>T (p.Asn2101Ile)
c.6317A>T (p.Asn2106Ile)
c.6497A>T (p.Asn2166Ile)
c.6431A>T (p.Asn2144Ile)
c.6494A>T (p.Asn2165Ile)
c.6491A>T (p.Asn2164Ile)
c.6437A>T (p.Asn2146Ile)
c.6362A>T (p.Asn2121Ile)
c.5957A>T (p.Asn1986Ile)
c.5315A>T (p.Asn1772Ile)
c.2825A>T (p.Asn942Ile)
n.6740A>T
10g.71793231T>ACA377154162CDH23c.6303T>A (p.Asn2101Lys)
c.6318T>A (p.Asn2106Lys)
c.6498T>A (p.Asn2166Lys)
c.6432T>A (p.Asn2144Lys)
c.6495T>A (p.Asn2165Lys)
c.6492T>A (p.Asn2164Lys)
c.6438T>A (p.Asn2146Lys)
c.6363T>A (p.Asn2121Lys)
c.5958T>A (p.Asn1986Lys)
c.5316T>A (p.Asn1772Lys)
c.2826T>A (p.Asn942Lys)
n.6741T>A
 dbSNP
10g.71793231T>GCA377154163CDH23c.6303T>G (p.Asn2101Lys)
c.6318T>G (p.Asn2106Lys)
c.6498T>G (p.Asn2166Lys)
c.6432T>G (p.Asn2144Lys)
c.6495T>G (p.Asn2165Lys)
c.6492T>G (p.Asn2164Lys)
c.6438T>G (p.Asn2146Lys)
c.6363T>G (p.Asn2121Lys)
c.5958T>G (p.Asn1986Lys)
c.5316T>G (p.Asn1772Lys)
c.2826T>G (p.Asn942Lys)
n.6741T>G
10g.71793231_71793232delinsTGCA1918874149CDH23c.6303_6304delinsTG (p.Asn2101=)
c.6318_6319delinsTG (p.Asn2106=)
c.6498_6499delinsTG (p.Asn2166=)
c.6432_6433delinsTG (p.Asn2144=)
c.6495_6496delinsTG (p.Asn2165=)
c.6492_6493delinsTG (p.Asn2164=)
c.6438_6439delinsTG (p.Asn2146=)
c.6363_6364delinsTG (p.Asn2121=)
c.5958_5959delinsTG (p.Asn1986=)
c.5316_5317delinsTG (p.Asn1772=)
c.2826_2827delinsTG (p.Asn942=)
n.6741_6742delinsTG
10g.71793232G>ACA377154164CDH23c.6304G>A (p.Gly2102Arg)
c.6319G>A (p.Gly2107Arg)
c.6499G>A (p.Gly2167Arg)
c.6433G>A (p.Gly2145Arg)
c.6496G>A (p.Gly2166Arg)
c.6493G>A (p.Gly2165Arg)
c.6439G>A (p.Gly2147Arg)
c.6364G>A (p.Gly2122Arg)
c.5959G>A (p.Gly1987Arg)
c.5317G>A (p.Gly1773Arg)
c.2827G>A (p.Gly943Arg)
n.6742G>A
 dbSNP
10g.71793232G>CCA377154165CDH23c.6304G>C (p.Gly2102Arg)
c.6319G>C (p.Gly2107Arg)
c.6499G>C (p.Gly2167Arg)
c.6433G>C (p.Gly2145Arg)
c.6496G>C (p.Gly2166Arg)
c.6493G>C (p.Gly2165Arg)
c.6439G>C (p.Gly2147Arg)
c.6364G>C (p.Gly2122Arg)
c.5959G>C (p.Gly1987Arg)
c.5317G>C (p.Gly1773Arg)
c.2827G>C (p.Gly943Arg)
n.6742G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71793232G=CA1918874151CDH23c.6304G= (p.Gly2102=)
c.6319G= (p.Gly2107=)
c.6499G= (p.Gly2167=)
c.6433G= (p.Gly2145=)
c.6496G= (p.Gly2166=)
c.6493G= (p.Gly2165=)
c.6439G= (p.Gly2147=)
c.6364G= (p.Gly2122=)
c.5959G= (p.Gly1987=)
c.5317G= (p.Gly1773=)
c.2827G= (p.Gly943=)
n.6742G=
10g.71793232G>TCA209465968CDH23c.6304G>T (p.Gly2102Trp)
c.6319G>T (p.Gly2107Trp)
c.6499G>T (p.Gly2167Trp)
c.6433G>T (p.Gly2145Trp)
c.6496G>T (p.Gly2166Trp)
c.6493G>T (p.Gly2165Trp)
c.6439G>T (p.Gly2147Trp)
c.6364G>T (p.Gly2122Trp)
c.5959G>T (p.Gly1987Trp)
c.5317G>T (p.Gly1773Trp)
c.2827G>T (p.Gly943Trp)
n.6742G>T
 dbSNP gnomAD v4
10g.71793235delCA929791265CDH23c.6307del (p.Glu2103SerfsTer6)
c.6322del (p.Glu2108SerfsTer6)
c.6502del (p.Glu2168SerfsTer6)
c.6436del (p.Glu2146SerfsTer6)
c.6499del (p.Glu2167SerfsTer6)
c.6496del (p.Glu2166SerfsTer6)
c.6442del (p.Glu2148SerfsTer6)
c.6367del (p.Glu2123SerfsTer6)
c.5962del (p.Glu1988SerfsTer6)
c.5320del (p.Glu1774SerfsTer6)
c.2830del (p.Glu944SerfsTer6)
n.6745del
 dbSNP gnomAD v3 gnomAD v4
10g.71793233G>ACA377154171CDH23c.6305G>A (p.Gly2102Glu)
c.6320G>A (p.Gly2107Glu)
c.6500G>A (p.Gly2167Glu)
c.6434G>A (p.Gly2145Glu)
c.6497G>A (p.Gly2166Glu)
c.6494G>A (p.Gly2165Glu)
c.6440G>A (p.Gly2147Glu)
c.6365G>A (p.Gly2122Glu)
c.5960G>A (p.Gly1987Glu)
c.5318G>A (p.Gly1773Glu)
c.2828G>A (p.Gly943Glu)
n.6743G>A
 dbSNP gnomAD v2
10g.71793233G>CCA377154174CDH23c.6305G>C (p.Gly2102Ala)
c.6320G>C (p.Gly2107Ala)
c.6500G>C (p.Gly2167Ala)
c.6434G>C (p.Gly2145Ala)
c.6497G>C (p.Gly2166Ala)
c.6494G>C (p.Gly2165Ala)
c.6440G>C (p.Gly2147Ala)
c.6365G>C (p.Gly2122Ala)
c.5960G>C (p.Gly1987Ala)
c.5318G>C (p.Gly1773Ala)
c.2828G>C (p.Gly943Ala)
n.6743G>C
 dbSNP gnomAD v4
10g.71793233G=CA1918874153CDH23c.6305G= (p.Gly2102=)
c.6320G= (p.Gly2107=)
c.6500G= (p.Gly2167=)
c.6434G= (p.Gly2145=)
c.6497G= (p.Gly2166=)
c.6494G= (p.Gly2165=)
c.6440G= (p.Gly2147=)
c.6365G= (p.Gly2122=)
c.5960G= (p.Gly1987=)
c.5318G= (p.Gly1773=)
c.2828G= (p.Gly943=)
n.6743G=
10g.71793233G>TCA377154177CDH23c.6305G>T (p.Gly2102Val)
c.6320G>T (p.Gly2107Val)
c.6500G>T (p.Gly2167Val)
c.6434G>T (p.Gly2145Val)
c.6497G>T (p.Gly2166Val)
c.6494G>T (p.Gly2165Val)
c.6440G>T (p.Gly2147Val)
c.6365G>T (p.Gly2122Val)
c.5960G>T (p.Gly1987Val)
c.5318G>T (p.Gly1773Val)
c.2828G>T (p.Gly943Val)
n.6743G>T
 dbSNP
10g.71793234G>ACA5546052CDH23c.6306G>A (p.Gly2102=)
c.6321G>A (p.Gly2107=)
c.6501G>A (p.Gly2167=)
c.6435G>A (p.Gly2145=)
c.6498G>A (p.Gly2166=)
c.6495G>A (p.Gly2165=)
c.6441G>A (p.Gly2147=)
c.6366G>A (p.Gly2122=)
c.5961G>A (p.Gly1987=)
c.5319G>A (p.Gly1773=)
c.2829G>A (p.Gly943=)
n.6744G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793234G=CA1918874155CDH23c.6306G= (p.Gly2102=)
c.6321G= (p.Gly2107=)
c.6501G= (p.Gly2167=)
c.6435G= (p.Gly2145=)
c.6498G= (p.Gly2166=)
c.6495G= (p.Gly2165=)
c.6441G= (p.Gly2147=)
c.6366G= (p.Gly2122=)
c.5961G= (p.Gly1987=)
c.5319G= (p.Gly1773=)
c.2829G= (p.Gly943=)
n.6744G=
10g.71793235G>ACA377154185CDH23c.6307G>A (p.Glu2103Lys)
c.6322G>A (p.Glu2108Lys)
c.6502G>A (p.Glu2168Lys)
c.6436G>A (p.Glu2146Lys)
c.6499G>A (p.Glu2167Lys)
c.6496G>A (p.Glu2166Lys)
c.6442G>A (p.Glu2148Lys)
c.6367G>A (p.Glu2123Lys)
c.5962G>A (p.Glu1988Lys)
c.5320G>A (p.Glu1774Lys)
c.2830G>A (p.Glu944Lys)
n.6745G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71793235G>CCA377154193CDH23c.6307G>C (p.Glu2103Gln)
c.6322G>C (p.Glu2108Gln)
c.6502G>C (p.Glu2168Gln)
c.6436G>C (p.Glu2146Gln)
c.6499G>C (p.Glu2167Gln)
c.6496G>C (p.Glu2166Gln)
c.6442G>C (p.Glu2148Gln)
c.6367G>C (p.Glu2123Gln)
c.5962G>C (p.Glu1988Gln)
c.5320G>C (p.Glu1774Gln)
c.2830G>C (p.Glu944Gln)
n.6745G>C
 dbSNP
10g.71793235G=CA1918874156CDH23c.6307G= (p.Glu2103=)
c.6322G= (p.Glu2108=)
c.6502G= (p.Glu2168=)
c.6436G= (p.Glu2146=)
c.6499G= (p.Glu2167=)
c.6496G= (p.Glu2166=)
c.6442G= (p.Glu2148=)
c.6367G= (p.Glu2123=)
c.5962G= (p.Glu1988=)
c.5320G= (p.Glu1774=)
c.2830G= (p.Glu944=)
n.6745G=
10g.71793235G>TCA377154196CDH23c.6307G>T (p.Glu2103Ter)
c.6322G>T (p.Glu2108Ter)
c.6502G>T (p.Glu2168Ter)
c.6436G>T (p.Glu2146Ter)
c.6499G>T (p.Glu2167Ter)
c.6496G>T (p.Glu2166Ter)
c.6442G>T (p.Glu2148Ter)
c.6367G>T (p.Glu2123Ter)
c.5962G>T (p.Glu1988Ter)
c.5320G>T (p.Glu1774Ter)
c.2830G>T (p.Glu944Ter)
n.6745G>T
 ClinVar dbSNP gnomAD v4
10g.71793236A>CCA377154197CDH23c.6308A>C (p.Glu2103Ala)
c.6323A>C (p.Glu2108Ala)
c.6503A>C (p.Glu2168Ala)
c.6437A>C (p.Glu2146Ala)
c.6500A>C (p.Glu2167Ala)
c.6497A>C (p.Glu2166Ala)
c.6443A>C (p.Glu2148Ala)
c.6368A>C (p.Glu2123Ala)
c.5963A>C (p.Glu1988Ala)
c.5321A>C (p.Glu1774Ala)
c.2831A>C (p.Glu944Ala)
n.6746A>C
10g.71793236A>GCA377154198CDH23c.6308A>G (p.Glu2103Gly)
c.6323A>G (p.Glu2108Gly)
c.6503A>G (p.Glu2168Gly)
c.6437A>G (p.Glu2146Gly)
c.6500A>G (p.Glu2167Gly)
c.6497A>G (p.Glu2166Gly)
c.6443A>G (p.Glu2148Gly)
c.6368A>G (p.Glu2123Gly)
c.5963A>G (p.Glu1988Gly)
c.5321A>G (p.Glu1774Gly)
c.2831A>G (p.Glu944Gly)
n.6746A>G
 dbSNP
10g.71793236A>TCA377154199CDH23c.6308A>T (p.Glu2103Val)
c.6323A>T (p.Glu2108Val)
c.6503A>T (p.Glu2168Val)
c.6437A>T (p.Glu2146Val)
c.6500A>T (p.Glu2167Val)
c.6497A>T (p.Glu2166Val)
c.6443A>T (p.Glu2148Val)
c.6368A>T (p.Glu2123Val)
c.5963A>T (p.Glu1988Val)
c.5321A>T (p.Glu1774Val)
c.2831A>T (p.Glu944Val)
n.6746A>T
10g.71793237G>ACA594705918CDH23c.6309G>A (p.Glu2103=)
c.6324G>A (p.Glu2108=)
c.6504G>A (p.Glu2168=)
c.6438G>A (p.Glu2146=)
c.6501G>A (p.Glu2167=)
c.6498G>A (p.Glu2166=)
c.6444G>A (p.Glu2148=)
c.6369G>A (p.Glu2123=)
c.5964G>A (p.Glu1988=)
c.5322G>A (p.Glu1774=)
c.2832G>A (p.Glu944=)
n.6747G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793237G>CCA377154200CDH23c.6309G>C (p.Glu2103Asp)
c.6324G>C (p.Glu2108Asp)
c.6504G>C (p.Glu2168Asp)
c.6438G>C (p.Glu2146Asp)
c.6501G>C (p.Glu2167Asp)
c.6498G>C (p.Glu2166Asp)
c.6444G>C (p.Glu2148Asp)
c.6369G>C (p.Glu2123Asp)
c.5964G>C (p.Glu1988Asp)
c.5322G>C (p.Glu1774Asp)
c.2832G>C (p.Glu944Asp)
n.6747G>C
10g.71793237G=CA1918874158CDH23c.6309G= (p.Glu2103=)
c.6324G= (p.Glu2108=)
c.6504G= (p.Glu2168=)
c.6438G= (p.Glu2146=)
c.6501G= (p.Glu2167=)
c.6498G= (p.Glu2166=)
c.6444G= (p.Glu2148=)
c.6369G= (p.Glu2123=)
c.5964G= (p.Glu1988=)
c.5322G= (p.Glu1774=)
c.2832G= (p.Glu944=)
n.6747G=
10g.71793237G>TCA377154202CDH23c.6309G>T (p.Glu2103Asp)
c.6324G>T (p.Glu2108Asp)
c.6504G>T (p.Glu2168Asp)
c.6438G>T (p.Glu2146Asp)
c.6501G>T (p.Glu2167Asp)
c.6498G>T (p.Glu2166Asp)
c.6444G>T (p.Glu2148Asp)
c.6369G>T (p.Glu2123Asp)
c.5964G>T (p.Glu1988Asp)
c.5322G>T (p.Glu1774Asp)
c.2832G>T (p.Glu944Asp)
n.6747G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71793238C>ACA377154206CDH23c.6310C>A (p.Leu2104Met)
c.6325C>A (p.Leu2109Met)
c.6505C>A (p.Leu2169Met)
c.6439C>A (p.Leu2147Met)
c.6502C>A (p.Leu2168Met)
c.6499C>A (p.Leu2167Met)
c.6445C>A (p.Leu2149Met)
c.6370C>A (p.Leu2124Met)
c.5965C>A (p.Leu1989Met)
c.5323C>A (p.Leu1775Met)
c.2833C>A (p.Leu945Met)
n.6748C>A
10g.71793238C>GCA377154209CDH23c.6310C>G (p.Leu2104Val)
c.6325C>G (p.Leu2109Val)
c.6505C>G (p.Leu2169Val)
c.6439C>G (p.Leu2147Val)
c.6502C>G (p.Leu2168Val)
c.6499C>G (p.Leu2167Val)
c.6445C>G (p.Leu2149Val)
c.6370C>G (p.Leu2124Val)
c.5965C>G (p.Leu1989Val)
c.5323C>G (p.Leu1775Val)
c.2833C>G (p.Leu945Val)
n.6748C>G
 gnomAD v4
10g.71793238C>TCA2722285418CDH23c.6310C>T (p.Leu2104=)
c.6325C>T (p.Leu2109=)
c.6505C>T (p.Leu2169=)
c.6439C>T (p.Leu2147=)
c.6502C>T (p.Leu2168=)
c.6499C>T (p.Leu2167=)
c.6445C>T (p.Leu2149=)
c.6370C>T (p.Leu2124=)
c.5965C>T (p.Leu1989=)
c.5323C>T (p.Leu1775=)
c.2833C>T (p.Leu945=)
n.6748C>T
 dbSNP
10g.71793239T>ACA377154217CDH23c.6311T>A (p.Leu2104Gln)
c.6326T>A (p.Leu2109Gln)
c.6506T>A (p.Leu2169Gln)
c.6440T>A (p.Leu2147Gln)
c.6503T>A (p.Leu2168Gln)
c.6500T>A (p.Leu2167Gln)
c.6446T>A (p.Leu2149Gln)
c.6371T>A (p.Leu2124Gln)
c.5966T>A (p.Leu1989Gln)
c.5324T>A (p.Leu1775Gln)
c.2834T>A (p.Leu945Gln)
n.6749T>A
10g.71793239T>CCA377154219CDH23c.6311T>C (p.Leu2104Pro)
c.6326T>C (p.Leu2109Pro)
c.6506T>C (p.Leu2169Pro)
c.6440T>C (p.Leu2147Pro)
c.6503T>C (p.Leu2168Pro)
c.6500T>C (p.Leu2167Pro)
c.6446T>C (p.Leu2149Pro)
c.6371T>C (p.Leu2124Pro)
c.5966T>C (p.Leu1989Pro)
c.5324T>C (p.Leu1775Pro)
c.2834T>C (p.Leu945Pro)
n.6749T>C
10g.71793239T>GCA377154224CDH23c.6311T>G (p.Leu2104Arg)
c.6326T>G (p.Leu2109Arg)
c.6506T>G (p.Leu2169Arg)
c.6440T>G (p.Leu2147Arg)
c.6503T>G (p.Leu2168Arg)
c.6500T>G (p.Leu2167Arg)
c.6446T>G (p.Leu2149Arg)
c.6371T>G (p.Leu2124Arg)
c.5966T>G (p.Leu1989Arg)
c.5324T>G (p.Leu1775Arg)
c.2834T>G (p.Leu945Arg)
n.6749T>G
10g.71793239_71793240delinsTGCA1918874160CDH23c.6311_6312delinsTG (p.Leu2104=)
c.6326_6327delinsTG (p.Leu2109=)
c.6506_6507delinsTG (p.Leu2169=)
c.6440_6441delinsTG (p.Leu2147=)
c.6503_6504delinsTG (p.Leu2168=)
c.6500_6501delinsTG (p.Leu2167=)
c.6446_6447delinsTG (p.Leu2149=)
c.6371_6372delinsTG (p.Leu2124=)
c.5966_5967delinsTG (p.Leu1989=)
c.5324_5325delinsTG (p.Leu1775=)
c.2834_2835delinsTG (p.Leu945=)
n.6749_6750delinsTG
10g.71793239_71793272delinsCCACA2695199526CDH23c.6311_6344delinsCCA (p.Leu2104ProfsTer29)
c.6326_6359delinsCCA (p.Leu2109ProfsTer29)
c.6506_6539delinsCCA (p.Leu2169ProfsTer29)
c.6440_6473delinsCCA (p.Leu2147ProfsTer29)
c.6503_6536delinsCCA (p.Leu2168ProfsTer29)
c.6500_6533delinsCCA (p.Leu2167ProfsTer29)
c.6446_6479delinsCCA (p.Leu2149ProfsTer29)
c.6506_6539delinsCCA (p.Leu2169ProfsTer20)
c.6371_6404delinsCCA (p.Leu2124ProfsTer29)
c.5966_5999delinsCCA (p.Leu1989ProfsTer29)
c.5324_5357delinsCCA (p.Leu1775ProfsTer29)
c.2834_2867delinsCCA (p.Leu945ProfsTer29)
n.6749_6782delinsCCA
 ClinVar
10g.71793240G>ACA2722065365CDH23c.6312G>A (p.Leu2104=)
c.6327G>A (p.Leu2109=)
c.6507G>A (p.Leu2169=)
c.6441G>A (p.Leu2147=)
c.6504G>A (p.Leu2168=)
c.6501G>A (p.Leu2167=)
c.6447G>A (p.Leu2149=)
c.6372G>A (p.Leu2124=)
c.5967G>A (p.Leu1989=)
c.5325G>A (p.Leu1775=)
c.2835G>A (p.Leu945=)
n.6750G>A
 dbSNP
10g.71793240G=CA1918874162CDH23c.6312G= (p.Leu2104=)
c.6327G= (p.Leu2109=)
c.6507G= (p.Leu2169=)
c.6441G= (p.Leu2147=)
c.6504G= (p.Leu2168=)
c.6501G= (p.Leu2167=)
c.6447G= (p.Leu2149=)
c.6372G= (p.Leu2124=)
c.5967G= (p.Leu1989=)
c.5325G= (p.Leu1775=)
c.2835G= (p.Leu945=)
n.6750G=
10g.71793240G>TCA1918874163CDH23c.6312G>T (p.Leu2104=)
c.6327G>T (p.Leu2109=)
c.6507G>T (p.Leu2169=)
c.6441G>T (p.Leu2147=)
c.6504G>T (p.Leu2168=)
c.6501G>T (p.Leu2167=)
c.6447G>T (p.Leu2149=)
c.6372G>T (p.Leu2124=)
c.5967G>T (p.Leu1989=)
c.5325G>T (p.Leu1775=)
c.2835G>T (p.Leu945=)
n.6750G>T
 dbSNP gnomAD v4
10g.71793241delCA5546053CDH23c.6313del (p.Val2105SerfsTer4)
c.6328del (p.Val2110SerfsTer4)
c.6508del (p.Val2170SerfsTer4)
c.6442del (p.Val2148SerfsTer4)
c.6505del (p.Val2169SerfsTer4)
c.6502del (p.Val2168SerfsTer4)
c.6448del (p.Val2150SerfsTer4)
c.6373del (p.Val2125SerfsTer4)
c.5968del (p.Val1990SerfsTer4)
c.5326del (p.Val1776SerfsTer4)
c.2836del (p.Val946SerfsTer4)
n.6751del
 dbSNP ExAC gnomAD v2
10g.71793241G>ACA377154229CDH23c.6313G>A (p.Val2105Ile)
c.6328G>A (p.Val2110Ile)
c.6508G>A (p.Val2170Ile)
c.6442G>A (p.Val2148Ile)
c.6505G>A (p.Val2169Ile)
c.6502G>A (p.Val2168Ile)
c.6448G>A (p.Val2150Ile)
c.6373G>A (p.Val2125Ile)
c.5968G>A (p.Val1990Ile)
c.5326G>A (p.Val1776Ile)
c.2836G>A (p.Val946Ile)
n.6751G>A
 dbSNP
10g.71793241G>CCA377154246CDH23c.6313G>C (p.Val2105Leu)
c.6328G>C (p.Val2110Leu)
c.6508G>C (p.Val2170Leu)
c.6442G>C (p.Val2148Leu)
c.6505G>C (p.Val2169Leu)
c.6502G>C (p.Val2168Leu)
c.6448G>C (p.Val2150Leu)
c.6373G>C (p.Val2125Leu)
c.5968G>C (p.Val1990Leu)
c.5326G>C (p.Val1776Leu)
c.2836G>C (p.Val946Leu)
n.6751G>C
 gnomAD v4
10g.71793241G=CA1918874165CDH23c.6313G= (p.Val2105=)
c.6328G= (p.Val2110=)
c.6508G= (p.Val2170=)
c.6442G= (p.Val2148=)
c.6505G= (p.Val2169=)
c.6502G= (p.Val2168=)
c.6448G= (p.Val2150=)
c.6373G= (p.Val2125=)
c.5968G= (p.Val1990=)
c.5326G= (p.Val1776=)
c.2836G= (p.Val946=)
n.6751G=
10g.71793241G>TCA377154249CDH23c.6313G>T (p.Val2105Phe)
c.6328G>T (p.Val2110Phe)
c.6508G>T (p.Val2170Phe)
c.6442G>T (p.Val2148Phe)
c.6505G>T (p.Val2169Phe)
c.6502G>T (p.Val2168Phe)
c.6448G>T (p.Val2150Phe)
c.6373G>T (p.Val2125Phe)
c.5968G>T (p.Val1990Phe)
c.5326G>T (p.Val1776Phe)
c.2836G>T (p.Val946Phe)
n.6751G>T
10g.71793242T>ACA377154252CDH23c.6314T>A (p.Val2105Asp)
c.6329T>A (p.Val2110Asp)
c.6509T>A (p.Val2170Asp)
c.6443T>A (p.Val2148Asp)
c.6506T>A (p.Val2169Asp)
c.6503T>A (p.Val2168Asp)
c.6449T>A (p.Val2150Asp)
c.6374T>A (p.Val2125Asp)
c.5969T>A (p.Val1990Asp)
c.5327T>A (p.Val1776Asp)
c.2837T>A (p.Val946Asp)
n.6752T>A
10g.71793242T>CCA377154254CDH23c.6314T>C (p.Val2105Ala)
c.6329T>C (p.Val2110Ala)
c.6509T>C (p.Val2170Ala)
c.6443T>C (p.Val2148Ala)
c.6506T>C (p.Val2169Ala)
c.6503T>C (p.Val2168Ala)
c.6449T>C (p.Val2150Ala)
c.6374T>C (p.Val2125Ala)
c.5969T>C (p.Val1990Ala)
c.5327T>C (p.Val1776Ala)
c.2837T>C (p.Val946Ala)
n.6752T>C
10g.71793242T>GCA377154256CDH23c.6314T>G (p.Val2105Gly)
c.6329T>G (p.Val2110Gly)
c.6509T>G (p.Val2170Gly)
c.6443T>G (p.Val2148Gly)
c.6506T>G (p.Val2169Gly)
c.6503T>G (p.Val2168Gly)
c.6449T>G (p.Val2150Gly)
c.6374T>G (p.Val2125Gly)
c.5969T>G (p.Val1990Gly)
c.5327T>G (p.Val1776Gly)
c.2837T>G (p.Val946Gly)
n.6752T>G
10g.71793243C>ACA1918874167CDH23c.6315C>A (p.Val2105=)
c.6330C>A (p.Val2110=)
c.6510C>A (p.Val2170=)
c.6444C>A (p.Val2148=)
c.6507C>A (p.Val2169=)
c.6504C>A (p.Val2168=)
c.6450C>A (p.Val2150=)
c.6375C>A (p.Val2125=)
c.5970C>A (p.Val1990=)
c.5328C>A (p.Val1776=)
c.2838C>A (p.Val946=)
n.6753C>A
 dbSNP gnomAD v4
10g.71793243C=CA1918874166CDH23c.6315C= (p.Val2105=)
c.6330C= (p.Val2110=)
c.6510C= (p.Val2170=)
c.6444C= (p.Val2148=)
c.6507C= (p.Val2169=)
c.6504C= (p.Val2168=)
c.6450C= (p.Val2150=)
c.6375C= (p.Val2125=)
c.5970C= (p.Val1990=)
c.5328C= (p.Val1776=)
c.2838C= (p.Val946=)
n.6753C=
10g.71793243C>GCA2722051847CDH23c.6315C>G (p.Val2105=)
c.6330C>G (p.Val2110=)
c.6510C>G (p.Val2170=)
c.6444C>G (p.Val2148=)
c.6507C>G (p.Val2169=)
c.6504C>G (p.Val2168=)
c.6450C>G (p.Val2150=)
c.6375C>G (p.Val2125=)
c.5970C>G (p.Val1990=)
c.5328C>G (p.Val1776=)
c.2838C>G (p.Val946=)
n.6753C>G
 dbSNP
10g.71793243C>TCA2739275742CDH23c.6315C>T (p.Val2105=)
c.6330C>T (p.Val2110=)
c.6510C>T (p.Val2170=)
c.6444C>T (p.Val2148=)
c.6507C>T (p.Val2169=)
c.6504C>T (p.Val2168=)
c.6450C>T (p.Val2150=)
c.6375C>T (p.Val2125=)
c.5970C>T (p.Val1990=)
c.5328C>T (p.Val1776=)
c.2838C>T (p.Val946=)
n.6753C>T
 ClinVar
10g.71793244T>ACA377154259CDH23c.6316T>A (p.Tyr2106Asn)
c.6331T>A (p.Tyr2111Asn)
c.6511T>A (p.Tyr2171Asn)
c.6445T>A (p.Tyr2149Asn)
c.6508T>A (p.Tyr2170Asn)
c.6505T>A (p.Tyr2169Asn)
c.6451T>A (p.Tyr2151Asn)
c.6376T>A (p.Tyr2126Asn)
c.5971T>A (p.Tyr1991Asn)
c.5329T>A (p.Tyr1777Asn)
c.2839T>A (p.Tyr947Asn)
n.6754T>A
10g.71793244T>CCA377154266CDH23c.6316T>C (p.Tyr2106His)
c.6331T>C (p.Tyr2111His)
c.6511T>C (p.Tyr2171His)
c.6445T>C (p.Tyr2149His)
c.6508T>C (p.Tyr2170His)
c.6505T>C (p.Tyr2169His)
c.6451T>C (p.Tyr2151His)
c.6376T>C (p.Tyr2126His)
c.5971T>C (p.Tyr1991His)
c.5329T>C (p.Tyr1777His)
c.2839T>C (p.Tyr947His)
n.6754T>C
10g.71793244T>GCA377154264CDH23c.6316T>G (p.Tyr2106Asp)
c.6331T>G (p.Tyr2111Asp)
c.6511T>G (p.Tyr2171Asp)
c.6445T>G (p.Tyr2149Asp)
c.6508T>G (p.Tyr2170Asp)
c.6505T>G (p.Tyr2169Asp)
c.6451T>G (p.Tyr2151Asp)
c.6376T>G (p.Tyr2126Asp)
c.5971T>G (p.Tyr1991Asp)
c.5329T>G (p.Tyr1777Asp)
c.2839T>G (p.Tyr947Asp)
n.6754T>G
10g.71793245A>CCA377154268CDH23c.6317A>C (p.Tyr2106Ser)
c.6332A>C (p.Tyr2111Ser)
c.6512A>C (p.Tyr2171Ser)
c.6446A>C (p.Tyr2149Ser)
c.6509A>C (p.Tyr2170Ser)
c.6506A>C (p.Tyr2169Ser)
c.6452A>C (p.Tyr2151Ser)
c.6377A>C (p.Tyr2126Ser)
c.5972A>C (p.Tyr1991Ser)
c.5330A>C (p.Tyr1777Ser)
c.2840A>C (p.Tyr947Ser)
n.6755A>C
10g.71793245A>GCA377154270CDH23c.6317A>G (p.Tyr2106Cys)
c.6332A>G (p.Tyr2111Cys)
c.6512A>G (p.Tyr2171Cys)
c.6446A>G (p.Tyr2149Cys)
c.6509A>G (p.Tyr2170Cys)
c.6506A>G (p.Tyr2169Cys)
c.6452A>G (p.Tyr2151Cys)
c.6377A>G (p.Tyr2126Cys)
c.5972A>G (p.Tyr1991Cys)
c.5330A>G (p.Tyr1777Cys)
c.2840A>G (p.Tyr947Cys)
n.6755A>G
10g.71793245A>TCA377154273CDH23c.6317A>T (p.Tyr2106Phe)
c.6332A>T (p.Tyr2111Phe)
c.6512A>T (p.Tyr2171Phe)
c.6446A>T (p.Tyr2149Phe)
c.6509A>T (p.Tyr2170Phe)
c.6506A>T (p.Tyr2169Phe)
c.6452A>T (p.Tyr2151Phe)
c.6377A>T (p.Tyr2126Phe)
c.5972A>T (p.Tyr1991Phe)
c.5330A>T (p.Tyr1777Phe)
c.2840A>T (p.Tyr947Phe)
n.6755A>T
10g.71793246C>ACA377154276CDH23c.6318C>A (p.Tyr2106Ter)
c.6333C>A (p.Tyr2111Ter)
c.6513C>A (p.Tyr2171Ter)
c.6447C>A (p.Tyr2149Ter)
c.6510C>A (p.Tyr2170Ter)
c.6507C>A (p.Tyr2169Ter)
c.6453C>A (p.Tyr2151Ter)
c.6378C>A (p.Tyr2126Ter)
c.5973C>A (p.Tyr1991Ter)
c.5331C>A (p.Tyr1777Ter)
c.2841C>A (p.Tyr947Ter)
n.6756C>A
10g.71793246C>GCA377154277CDH23c.6318C>G (p.Tyr2106Ter)
c.6333C>G (p.Tyr2111Ter)
c.6513C>G (p.Tyr2171Ter)
c.6447C>G (p.Tyr2149Ter)
c.6510C>G (p.Tyr2170Ter)
c.6507C>G (p.Tyr2169Ter)
c.6453C>G (p.Tyr2151Ter)
c.6378C>G (p.Tyr2126Ter)
c.5973C>G (p.Tyr1991Ter)
c.5331C>G (p.Tyr1777Ter)
c.2841C>G (p.Tyr947Ter)
n.6756C>G
 dbSNP
10g.71793247C>ACA2499220348CDH23c.6319C>A (p.Arg2107=)
c.6334C>A (p.Arg2112=)
c.6514C>A (p.Arg2172=)
c.6448C>A (p.Arg2150=)
c.6511C>A (p.Arg2171=)
c.6508C>A (p.Arg2170=)
c.6454C>A (p.Arg2152=)
c.6379C>A (p.Arg2127=)
c.5974C>A (p.Arg1992=)
c.5332C>A (p.Arg1778=)
c.2842C>A (p.Arg948=)
n.6757C>A
 ClinVar dbSNP
10g.71793247C=CA1918874169CDH23c.6319C= (p.Arg2107=)
c.6334C= (p.Arg2112=)
c.6514C= (p.Arg2172=)
c.6448C= (p.Arg2150=)
c.6511C= (p.Arg2171=)
c.6508C= (p.Arg2170=)
c.6454C= (p.Arg2152=)
c.6379C= (p.Arg2127=)
c.5974C= (p.Arg1992=)
c.5332C= (p.Arg1778=)
c.2842C= (p.Arg948=)
n.6757C=
10g.71793247C>GCA377154278CDH23c.6319C>G (p.Arg2107Gly)
c.6334C>G (p.Arg2112Gly)
c.6514C>G (p.Arg2172Gly)
c.6448C>G (p.Arg2150Gly)
c.6511C>G (p.Arg2171Gly)
c.6508C>G (p.Arg2170Gly)
c.6454C>G (p.Arg2152Gly)
c.6379C>G (p.Arg2127Gly)
c.5974C>G (p.Arg1992Gly)
c.5332C>G (p.Arg1778Gly)
c.2842C>G (p.Arg948Gly)
n.6757C>G
 dbSNP gnomAD v4
10g.71793247C>TCA377154279CDH23c.6319C>T (p.Arg2107Ter)
c.6334C>T (p.Arg2112Ter)
c.6514C>T (p.Arg2172Ter)
c.6448C>T (p.Arg2150Ter)
c.6511C>T (p.Arg2171Ter)
c.6508C>T (p.Arg2170Ter)
c.6454C>T (p.Arg2152Ter)
c.6379C>T (p.Arg2127Ter)
c.5974C>T (p.Arg1992Ter)
c.5332C>T (p.Arg1778Ter)
c.2842C>T (p.Arg948Ter)
n.6757C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.71793248G>ACA5546054CDH23c.6320G>A (p.Arg2107Gln)
c.6335G>A (p.Arg2112Gln)
c.6515G>A (p.Arg2172Gln)
c.6449G>A (p.Arg2150Gln)
c.6512G>A (p.Arg2171Gln)
c.6509G>A (p.Arg2170Gln)
c.6455G>A (p.Arg2152Gln)
c.6380G>A (p.Arg2127Gln)
c.5975G>A (p.Arg1992Gln)
c.5333G>A (p.Arg1778Gln)
c.2843G>A (p.Arg948Gln)
n.6758G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793248G>CCA377154282CDH23c.6320G>C (p.Arg2107Pro)
c.6335G>C (p.Arg2112Pro)
c.6515G>C (p.Arg2172Pro)
c.6449G>C (p.Arg2150Pro)
c.6512G>C (p.Arg2171Pro)
c.6509G>C (p.Arg2170Pro)
c.6455G>C (p.Arg2152Pro)
c.6380G>C (p.Arg2127Pro)
c.5975G>C (p.Arg1992Pro)
c.5333G>C (p.Arg1778Pro)
c.2843G>C (p.Arg948Pro)
n.6758G>C
 dbSNP gnomAD v4
10g.71793248G=CA1918874173CDH23c.6320G= (p.Arg2107=)
c.6335G= (p.Arg2112=)
c.6515G= (p.Arg2172=)
c.6449G= (p.Arg2150=)
c.6512G= (p.Arg2171=)
c.6509G= (p.Arg2170=)
c.6455G= (p.Arg2152=)
c.6380G= (p.Arg2127=)
c.5975G= (p.Arg1992=)
c.5333G= (p.Arg1778=)
c.2843G= (p.Arg948=)
n.6758G=
10g.71793248G>TCA377154284CDH23c.6320G>T (p.Arg2107Leu)
c.6335G>T (p.Arg2112Leu)
c.6515G>T (p.Arg2172Leu)
c.6449G>T (p.Arg2150Leu)
c.6512G>T (p.Arg2171Leu)
c.6509G>T (p.Arg2170Leu)
c.6455G>T (p.Arg2152Leu)
c.6380G>T (p.Arg2127Leu)
c.5975G>T (p.Arg1992Leu)
c.5333G>T (p.Arg1778Leu)
c.2843G>T (p.Arg948Leu)
n.6758G>T
 ClinVar dbSNP gnomAD v4
10g.71793250A=CA1918874177CDH23c.6322A= (p.Ile2108=)
c.6337A= (p.Ile2113=)
c.6517A= (p.Ile2173=)
c.6451A= (p.Ile2151=)
c.6514A= (p.Ile2172=)
c.6511A= (p.Ile2171=)
c.6457A= (p.Ile2153=)
c.6382A= (p.Ile2128=)
c.5977A= (p.Ile1993=)
c.5335A= (p.Ile1779=)
c.2845A= (p.Ile949=)
n.6760A=
10g.71793250A>CCA377154287CDH23c.6322A>C (p.Ile2108Leu)
c.6337A>C (p.Ile2113Leu)
c.6517A>C (p.Ile2173Leu)
c.6451A>C (p.Ile2151Leu)
c.6514A>C (p.Ile2172Leu)
c.6511A>C (p.Ile2171Leu)
c.6457A>C (p.Ile2153Leu)
c.6382A>C (p.Ile2128Leu)
c.5977A>C (p.Ile1993Leu)
c.5335A>C (p.Ile1779Leu)
c.2845A>C (p.Ile949Leu)
n.6760A>C
10g.71793250A>GCA377154294CDH23c.6322A>G (p.Ile2108Val)
c.6337A>G (p.Ile2113Val)
c.6517A>G (p.Ile2173Val)
c.6451A>G (p.Ile2151Val)
c.6514A>G (p.Ile2172Val)
c.6511A>G (p.Ile2171Val)
c.6457A>G (p.Ile2153Val)
c.6382A>G (p.Ile2128Val)
c.5977A>G (p.Ile1993Val)
c.5335A>G (p.Ile1779Val)
c.2845A>G (p.Ile949Val)
n.6760A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793250A>TCA377154295CDH23c.6322A>T (p.Ile2108Leu)
c.6337A>T (p.Ile2113Leu)
c.6517A>T (p.Ile2173Leu)
c.6451A>T (p.Ile2151Leu)
c.6514A>T (p.Ile2172Leu)
c.6511A>T (p.Ile2171Leu)
c.6457A>T (p.Ile2153Leu)
c.6382A>T (p.Ile2128Leu)
c.5977A>T (p.Ile1993Leu)
c.5335A>T (p.Ile1779Leu)
c.2845A>T (p.Ile949Leu)
n.6760A>T
10g.71793251T>ACA377154296CDH23c.6323T>A (p.Ile2108Lys)
c.6338T>A (p.Ile2113Lys)
c.6518T>A (p.Ile2173Lys)
c.6452T>A (p.Ile2151Lys)
c.6515T>A (p.Ile2172Lys)
c.6512T>A (p.Ile2171Lys)
c.6458T>A (p.Ile2153Lys)
c.6383T>A (p.Ile2128Lys)
c.5978T>A (p.Ile1993Lys)
c.5336T>A (p.Ile1779Lys)
c.2846T>A (p.Ile949Lys)
n.6761T>A
 dbSNP
10g.71793251T>CCA377154298CDH23c.6323T>C (p.Ile2108Thr)
c.6338T>C (p.Ile2113Thr)
c.6518T>C (p.Ile2173Thr)
c.6452T>C (p.Ile2151Thr)
c.6515T>C (p.Ile2172Thr)
c.6512T>C (p.Ile2171Thr)
c.6458T>C (p.Ile2153Thr)
c.6383T>C (p.Ile2128Thr)
c.5978T>C (p.Ile1993Thr)
c.5336T>C (p.Ile1779Thr)
c.2846T>C (p.Ile949Thr)
n.6761T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793251T>GCA377154297CDH23c.6323T>G (p.Ile2108Arg)
c.6338T>G (p.Ile2113Arg)
c.6518T>G (p.Ile2173Arg)
c.6452T>G (p.Ile2151Arg)
c.6515T>G (p.Ile2172Arg)
c.6512T>G (p.Ile2171Arg)
c.6458T>G (p.Ile2153Arg)
c.6383T>G (p.Ile2128Arg)
c.5978T>G (p.Ile1993Arg)
c.5336T>G (p.Ile1779Arg)
c.2846T>G (p.Ile949Arg)
n.6761T>G
10g.71793251T=CA1918874179CDH23c.6323T= (p.Ile2108=)
c.6338T= (p.Ile2113=)
c.6518T= (p.Ile2173=)
c.6452T= (p.Ile2151=)
c.6515T= (p.Ile2172=)
c.6512T= (p.Ile2171=)
c.6458T= (p.Ile2153=)
c.6383T= (p.Ile2128=)
c.5978T= (p.Ile1993=)
c.5336T= (p.Ile1779=)
c.2846T= (p.Ile949=)
n.6761T=
10g.71793252A>GCA377154300CDH23c.6324A>G (p.Ile2108Met)
c.6339A>G (p.Ile2113Met)
c.6519A>G (p.Ile2173Met)
c.6453A>G (p.Ile2151Met)
c.6516A>G (p.Ile2172Met)
c.6513A>G (p.Ile2171Met)
c.6459A>G (p.Ile2153Met)
c.6384A>G (p.Ile2128Met)
c.5979A>G (p.Ile1993Met)
c.5337A>G (p.Ile1779Met)
c.2847A>G (p.Ile949Met)
n.6762A>G
10g.71793253G>ACA377154309CDH23c.6325G>A (p.Glu2109Lys)
c.6340G>A (p.Glu2114Lys)
c.6520G>A (p.Glu2174Lys)
c.6454G>A (p.Glu2152Lys)
c.6517G>A (p.Glu2173Lys)
c.6514G>A (p.Glu2172Lys)
c.6460G>A (p.Glu2154Lys)
c.6385G>A (p.Glu2129Lys)
c.5980G>A (p.Glu1994Lys)
c.5338G>A (p.Glu1780Lys)
c.2848G>A (p.Glu950Lys)
n.6763G>A
10g.71793253G>CCA377154312CDH23c.6325G>C (p.Glu2109Gln)
c.6340G>C (p.Glu2114Gln)
c.6520G>C (p.Glu2174Gln)
c.6454G>C (p.Glu2152Gln)
c.6517G>C (p.Glu2173Gln)
c.6514G>C (p.Glu2172Gln)
c.6460G>C (p.Glu2154Gln)
c.6385G>C (p.Glu2129Gln)
c.5980G>C (p.Glu1994Gln)
c.5338G>C (p.Glu1780Gln)
c.2848G>C (p.Glu950Gln)
n.6763G>C
10g.71793253G>TCA377154315CDH23c.6325G>T (p.Glu2109Ter)
c.6340G>T (p.Glu2114Ter)
c.6520G>T (p.Glu2174Ter)
c.6454G>T (p.Glu2152Ter)
c.6517G>T (p.Glu2173Ter)
c.6514G>T (p.Glu2172Ter)
c.6460G>T (p.Glu2154Ter)
c.6385G>T (p.Glu2129Ter)
c.5980G>T (p.Glu1994Ter)
c.5338G>T (p.Glu1780Ter)
c.2848G>T (p.Glu950Ter)
n.6763G>T
10g.71793254A>CCA377154317CDH23c.6326A>C (p.Glu2109Ala)
c.6341A>C (p.Glu2114Ala)
c.6521A>C (p.Glu2174Ala)
c.6455A>C (p.Glu2152Ala)
c.6518A>C (p.Glu2173Ala)
c.6515A>C (p.Glu2172Ala)
c.6461A>C (p.Glu2154Ala)
c.6386A>C (p.Glu2129Ala)
c.5981A>C (p.Glu1994Ala)
c.5339A>C (p.Glu1780Ala)
c.2849A>C (p.Glu950Ala)
n.6764A>C
10g.71793254A>GCA377154319CDH23c.6326A>G (p.Glu2109Gly)
c.6341A>G (p.Glu2114Gly)
c.6521A>G (p.Glu2174Gly)
c.6455A>G (p.Glu2152Gly)
c.6518A>G (p.Glu2173Gly)
c.6515A>G (p.Glu2172Gly)
c.6461A>G (p.Glu2154Gly)
c.6386A>G (p.Glu2129Gly)
c.5981A>G (p.Glu1994Gly)
c.5339A>G (p.Glu1780Gly)
c.2849A>G (p.Glu950Gly)
n.6764A>G
 gnomAD v4
10g.71793254A>TCA377154321CDH23c.6326A>T (p.Glu2109Val)
c.6341A>T (p.Glu2114Val)
c.6521A>T (p.Glu2174Val)
c.6455A>T (p.Glu2152Val)
c.6518A>T (p.Glu2173Val)
c.6515A>T (p.Glu2172Val)
c.6461A>T (p.Glu2154Val)
c.6386A>T (p.Glu2129Val)
c.5981A>T (p.Glu1994Val)
c.5339A>T (p.Glu1780Val)
c.2849A>T (p.Glu950Val)
n.6764A>T
10g.71793255A>CCA377154323CDH23c.6327A>C (p.Glu2109Asp)
c.6342A>C (p.Glu2114Asp)
c.6522A>C (p.Glu2174Asp)
c.6456A>C (p.Glu2152Asp)
c.6519A>C (p.Glu2173Asp)
c.6516A>C (p.Glu2172Asp)
c.6462A>C (p.Glu2154Asp)
c.6387A>C (p.Glu2129Asp)
c.5982A>C (p.Glu1994Asp)
c.5340A>C (p.Glu1780Asp)
c.2850A>C (p.Glu950Asp)
n.6765A>C
10g.71793255A>TCA377154327CDH23c.6327A>T (p.Glu2109Asp)
c.6342A>T (p.Glu2114Asp)
c.6522A>T (p.Glu2174Asp)
c.6456A>T (p.Glu2152Asp)
c.6519A>T (p.Glu2173Asp)
c.6516A>T (p.Glu2172Asp)
c.6462A>T (p.Glu2154Asp)
c.6387A>T (p.Glu2129Asp)
c.5982A>T (p.Glu1994Asp)
c.5340A>T (p.Glu1780Asp)
c.2850A>T (p.Glu950Asp)
n.6765A>T
10g.71793256G>ACA5546055CDH23c.6328G>A (p.Ala2110Thr)
c.6343G>A (p.Ala2115Thr)
c.6523G>A (p.Ala2175Thr)
c.6457G>A (p.Ala2153Thr)
c.6520G>A (p.Ala2174Thr)
c.6517G>A (p.Ala2173Thr)
c.6463G>A (p.Ala2155Thr)
c.6388G>A (p.Ala2130Thr)
c.5983G>A (p.Ala1995Thr)
c.5341G>A (p.Ala1781Thr)
c.2851G>A (p.Ala951Thr)
n.6766G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793256G>CCA377154334CDH23c.6328G>C (p.Ala2110Pro)
c.6343G>C (p.Ala2115Pro)
c.6523G>C (p.Ala2175Pro)
c.6457G>C (p.Ala2153Pro)
c.6520G>C (p.Ala2174Pro)
c.6517G>C (p.Ala2173Pro)
c.6463G>C (p.Ala2155Pro)
c.6388G>C (p.Ala2130Pro)
c.5983G>C (p.Ala1995Pro)
c.5341G>C (p.Ala1781Pro)
c.2851G>C (p.Ala951Pro)
n.6766G>C
 dbSNP gnomAD v4
10g.71793256G=CA1918874180CDH23c.6328G= (p.Ala2110=)
c.6343G= (p.Ala2115=)
c.6523G= (p.Ala2175=)
c.6457G= (p.Ala2153=)
c.6520G= (p.Ala2174=)
c.6517G= (p.Ala2173=)
c.6463G= (p.Ala2155=)
c.6388G= (p.Ala2130=)
c.5983G= (p.Ala1995=)
c.5341G= (p.Ala1781=)
c.2851G= (p.Ala951=)
n.6766G=
10g.71793256G>TCA377154330CDH23c.6328G>T (p.Ala2110Ser)
c.6343G>T (p.Ala2115Ser)
c.6523G>T (p.Ala2175Ser)
c.6457G>T (p.Ala2153Ser)
c.6520G>T (p.Ala2174Ser)
c.6517G>T (p.Ala2173Ser)
c.6463G>T (p.Ala2155Ser)
c.6388G>T (p.Ala2130Ser)
c.5983G>T (p.Ala1995Ser)
c.5341G>T (p.Ala1781Ser)
c.2851G>T (p.Ala951Ser)
n.6766G>T
10g.71793257C>ACA377154336CDH23c.6329C>A (p.Ala2110Asp)
c.6344C>A (p.Ala2115Asp)
c.6524C>A (p.Ala2175Asp)
c.6458C>A (p.Ala2153Asp)
c.6521C>A (p.Ala2174Asp)
c.6518C>A (p.Ala2173Asp)
c.6464C>A (p.Ala2155Asp)
c.6389C>A (p.Ala2130Asp)
c.5984C>A (p.Ala1995Asp)
c.5342C>A (p.Ala1781Asp)
c.2852C>A (p.Ala951Asp)
n.6767C>A
10g.71793257C=CA1918874182CDH23c.6329C= (p.Ala2110=)
c.6344C= (p.Ala2115=)
c.6524C= (p.Ala2175=)
c.6458C= (p.Ala2153=)
c.6521C= (p.Ala2174=)
c.6518C= (p.Ala2173=)
c.6464C= (p.Ala2155=)
c.6389C= (p.Ala2130=)
c.5984C= (p.Ala1995=)
c.5342C= (p.Ala1781=)
c.2852C= (p.Ala951=)
n.6767C=
10g.71793257C>GCA377154338CDH23c.6329C>G (p.Ala2110Gly)
c.6344C>G (p.Ala2115Gly)
c.6524C>G (p.Ala2175Gly)
c.6458C>G (p.Ala2153Gly)
c.6521C>G (p.Ala2174Gly)
c.6518C>G (p.Ala2173Gly)
c.6464C>G (p.Ala2155Gly)
c.6389C>G (p.Ala2130Gly)
c.5984C>G (p.Ala1995Gly)
c.5342C>G (p.Ala1781Gly)
c.2852C>G (p.Ala951Gly)
n.6767C>G
10g.71793257C>TCA137531CDH23c.6329C>T (p.Ala2110Val)
c.6344C>T (p.Ala2115Val)
c.6524C>T (p.Ala2175Val)
c.6458C>T (p.Ala2153Val)
c.6521C>T (p.Ala2174Val)
c.6518C>T (p.Ala2173Val)
c.6464C>T (p.Ala2155Val)
c.6389C>T (p.Ala2130Val)
c.5984C>T (p.Ala1995Val)
c.5342C>T (p.Ala1781Val)
c.2852C>T (p.Ala951Val)
n.6767C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793258T>GCA209465999CDH23c.6330T>G (p.Ala2110=)
c.6345T>G (p.Ala2115=)
c.6525T>G (p.Ala2175=)
c.6459T>G (p.Ala2153=)
c.6522T>G (p.Ala2174=)
c.6519T>G (p.Ala2173=)
c.6465T>G (p.Ala2155=)
c.6390T>G (p.Ala2130=)
c.5985T>G (p.Ala1995=)
c.5343T>G (p.Ala1781=)
c.2853T>G (p.Ala951=)
n.6768T>G
 dbSNP gnomAD v3 gnomAD v4
10g.71793258T=CA1918874184CDH23c.6330T= (p.Ala2110=)
c.6345T= (p.Ala2115=)
c.6525T= (p.Ala2175=)
c.6459T= (p.Ala2153=)
c.6522T= (p.Ala2174=)
c.6519T= (p.Ala2173=)
c.6465T= (p.Ala2155=)
c.6390T= (p.Ala2130=)
c.5985T= (p.Ala1995=)
c.5343T= (p.Ala1781=)
c.2853T= (p.Ala951=)
n.6768T=
10g.71793259G>ACA377154348CDH23c.6331G>A (p.Gly2111Arg)
c.6346G>A (p.Gly2116Arg)
c.6526G>A (p.Gly2176Arg)
c.6460G>A (p.Gly2154Arg)
c.6523G>A (p.Gly2175Arg)
c.6520G>A (p.Gly2174Arg)
c.6466G>A (p.Gly2156Arg)
c.6391G>A (p.Gly2131Arg)
c.5986G>A (p.Gly1996Arg)
c.5344G>A (p.Gly1782Arg)
c.2854G>A (p.Gly952Arg)
n.6769G>A
 dbSNP
10g.71793259G>CCA377154352CDH23c.6331G>C (p.Gly2111Arg)
c.6346G>C (p.Gly2116Arg)
c.6526G>C (p.Gly2176Arg)
c.6460G>C (p.Gly2154Arg)
c.6523G>C (p.Gly2175Arg)
c.6520G>C (p.Gly2174Arg)
c.6466G>C (p.Gly2156Arg)
c.6391G>C (p.Gly2131Arg)
c.5986G>C (p.Gly1996Arg)
c.5344G>C (p.Gly1782Arg)
c.2854G>C (p.Gly952Arg)
n.6769G>C
 dbSNP
10g.71793259G>TCA377154357CDH23c.6331G>T (p.Gly2111Trp)
c.6346G>T (p.Gly2116Trp)
c.6526G>T (p.Gly2176Trp)
c.6460G>T (p.Gly2154Trp)
c.6523G>T (p.Gly2175Trp)
c.6520G>T (p.Gly2174Trp)
c.6466G>T (p.Gly2156Trp)
c.6391G>T (p.Gly2131Trp)
c.5986G>T (p.Gly1996Trp)
c.5344G>T (p.Gly1782Trp)
c.2854G>T (p.Gly952Trp)
n.6769G>T
10g.71793262delCA2609580382CDH23c.6334del (p.Ala2112LeufsTer?)
c.6349del (p.Ala2117LeufsTer?)
c.6529del (p.Ala2177LeufsTer?)
c.6463del (p.Ala2155LeufsTer?)
c.6526del (p.Ala2176LeufsTer?)
c.6523del (p.Ala2175LeufsTer?)
c.6469del (p.Ala2157LeufsTer?)
c.6529del (p.Ala2177LeufsTer22)
c.6394del (p.Ala2132LeufsTer?)
c.5989del (p.Ala1997LeufsTer?)
c.5347del (p.Ala1783LeufsTer?)
c.2857del (p.Ala953LeufsTer?)
n.6772del
 gnomAD v4
10g.71793260G>ACA377154360CDH23c.6332G>A (p.Gly2111Glu)
c.6347G>A (p.Gly2116Glu)
c.6527G>A (p.Gly2176Glu)
c.6461G>A (p.Gly2154Glu)
c.6524G>A (p.Gly2175Glu)
c.6521G>A (p.Gly2174Glu)
c.6467G>A (p.Gly2156Glu)
c.6392G>A (p.Gly2131Glu)
c.5987G>A (p.Gly1996Glu)
c.5345G>A (p.Gly1782Glu)
c.2855G>A (p.Gly952Glu)
n.6770G>A
 dbSNP gnomAD v4
10g.71793260G>CCA377154362CDH23c.6332G>C (p.Gly2111Ala)
c.6347G>C (p.Gly2116Ala)
c.6527G>C (p.Gly2176Ala)
c.6461G>C (p.Gly2154Ala)
c.6524G>C (p.Gly2175Ala)
c.6521G>C (p.Gly2174Ala)
c.6467G>C (p.Gly2156Ala)
c.6392G>C (p.Gly2131Ala)
c.5987G>C (p.Gly1996Ala)
c.5345G>C (p.Gly1782Ala)
c.2855G>C (p.Gly952Ala)
n.6770G>C
10g.71793260G>TCA377154363CDH23c.6332G>T (p.Gly2111Val)
c.6347G>T (p.Gly2116Val)
c.6527G>T (p.Gly2176Val)
c.6461G>T (p.Gly2154Val)
c.6524G>T (p.Gly2175Val)
c.6521G>T (p.Gly2174Val)
c.6467G>T (p.Gly2156Val)
c.6392G>T (p.Gly2131Val)
c.5987G>T (p.Gly1996Val)
c.5345G>T (p.Gly1782Val)
c.2855G>T (p.Gly952Val)
n.6770G>T
10g.71793261G>ACA5546056CDH23c.6333G>A (p.Gly2111=)
c.6348G>A (p.Gly2116=)
c.6528G>A (p.Gly2176=)
c.6462G>A (p.Gly2154=)
c.6525G>A (p.Gly2175=)
c.6522G>A (p.Gly2174=)
c.6468G>A (p.Gly2156=)
c.6393G>A (p.Gly2131=)
c.5988G>A (p.Gly1996=)
c.5346G>A (p.Gly1782=)
c.2856G>A (p.Gly952=)
n.6771G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793261G=CA1918874186CDH23c.6333G= (p.Gly2111=)
c.6348G= (p.Gly2116=)
c.6528G= (p.Gly2176=)
c.6462G= (p.Gly2154=)
c.6525G= (p.Gly2175=)
c.6522G= (p.Gly2174=)
c.6468G= (p.Gly2156=)
c.6393G= (p.Gly2131=)
c.5988G= (p.Gly1996=)
c.5346G= (p.Gly1782=)
c.2856G= (p.Gly952=)
n.6771G=
10g.71793262G>ACA5546057CDH23c.6334G>A (p.Ala2112Thr)
c.6349G>A (p.Ala2117Thr)
c.6529G>A (p.Ala2177Thr)
c.6463G>A (p.Ala2155Thr)
c.6526G>A (p.Ala2176Thr)
c.6523G>A (p.Ala2175Thr)
c.6469G>A (p.Ala2157Thr)
c.6394G>A (p.Ala2132Thr)
c.5989G>A (p.Ala1997Thr)
c.5347G>A (p.Ala1783Thr)
c.2857G>A (p.Ala953Thr)
n.6772G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793262G>CCA377154374CDH23c.6334G>C (p.Ala2112Pro)
c.6349G>C (p.Ala2117Pro)
c.6529G>C (p.Ala2177Pro)
c.6463G>C (p.Ala2155Pro)
c.6526G>C (p.Ala2176Pro)
c.6523G>C (p.Ala2175Pro)
c.6469G>C (p.Ala2157Pro)
c.6394G>C (p.Ala2132Pro)
c.5989G>C (p.Ala1997Pro)
c.5347G>C (p.Ala1783Pro)
c.2857G>C (p.Ala953Pro)
n.6772G>C
10g.71793262G=CA1918874190CDH23c.6334G= (p.Ala2112=)
c.6349G= (p.Ala2117=)
c.6529G= (p.Ala2177=)
c.6463G= (p.Ala2155=)
c.6526G= (p.Ala2176=)
c.6523G= (p.Ala2175=)
c.6469G= (p.Ala2157=)
c.6394G= (p.Ala2132=)
c.5989G= (p.Ala1997=)
c.5347G= (p.Ala1783=)
c.2857G= (p.Ala953=)
n.6772G=
10g.71793262G>TCA377154376CDH23c.6334G>T (p.Ala2112Ser)
c.6349G>T (p.Ala2117Ser)
c.6529G>T (p.Ala2177Ser)
c.6463G>T (p.Ala2155Ser)
c.6526G>T (p.Ala2176Ser)
c.6523G>T (p.Ala2175Ser)
c.6469G>T (p.Ala2157Ser)
c.6394G>T (p.Ala2132Ser)
c.5989G>T (p.Ala1997Ser)
c.5347G>T (p.Ala1783Ser)
c.2857G>T (p.Ala953Ser)
n.6772G>T
 gnomAD v4
10g.71793263C>ACA377154389CDH23c.6335C>A (p.Ala2112Asp)
c.6350C>A (p.Ala2117Asp)
c.6530C>A (p.Ala2177Asp)
c.6464C>A (p.Ala2155Asp)
c.6527C>A (p.Ala2176Asp)
c.6524C>A (p.Ala2175Asp)
c.6470C>A (p.Ala2157Asp)
c.6395C>A (p.Ala2132Asp)
c.5990C>A (p.Ala1997Asp)
c.5348C>A (p.Ala1783Asp)
c.2858C>A (p.Ala953Asp)
n.6773C>A
10g.71793263C=CA1918874193CDH23c.6335C= (p.Ala2112=)
c.6350C= (p.Ala2117=)
c.6530C= (p.Ala2177=)
c.6464C= (p.Ala2155=)
c.6527C= (p.Ala2176=)
c.6524C= (p.Ala2175=)
c.6470C= (p.Ala2157=)
c.6395C= (p.Ala2132=)
c.5990C= (p.Ala1997=)
c.5348C= (p.Ala1783=)
c.2858C= (p.Ala953=)
n.6773C=
10g.71793263C>GCA377154379CDH23c.6335C>G (p.Ala2112Gly)
c.6350C>G (p.Ala2117Gly)
c.6530C>G (p.Ala2177Gly)
c.6464C>G (p.Ala2155Gly)
c.6527C>G (p.Ala2176Gly)
c.6524C>G (p.Ala2175Gly)
c.6470C>G (p.Ala2157Gly)
c.6395C>G (p.Ala2132Gly)
c.5990C>G (p.Ala1997Gly)
c.5348C>G (p.Ala1783Gly)
c.2858C>G (p.Ala953Gly)
n.6773C>G
10g.71793263C>TCA377154387CDH23c.6335C>T (p.Ala2112Val)
c.6350C>T (p.Ala2117Val)
c.6530C>T (p.Ala2177Val)
c.6464C>T (p.Ala2155Val)
c.6527C>T (p.Ala2176Val)
c.6524C>T (p.Ala2175Val)
c.6470C>T (p.Ala2157Val)
c.6395C>T (p.Ala2132Val)
c.5990C>T (p.Ala1997Val)
c.5348C>T (p.Ala1783Val)
c.2858C>T (p.Ala953Val)
n.6773C>T
 dbSNP
10g.71793264T>ACA2722285582CDH23c.6336T>A (p.Ala2112=)
c.6351T>A (p.Ala2117=)
c.6531T>A (p.Ala2177=)
c.6465T>A (p.Ala2155=)
c.6528T>A (p.Ala2176=)
c.6525T>A (p.Ala2175=)
c.6471T>A (p.Ala2157=)
c.6396T>A (p.Ala2132=)
c.5991T>A (p.Ala1997=)
c.5349T>A (p.Ala1783=)
c.2859T>A (p.Ala953=)
n.6774T>A
 dbSNP
10g.71793264T>CCA2697558461CDH23c.6336T>C (p.Ala2112=)
c.6351T>C (p.Ala2117=)
c.6531T>C (p.Ala2177=)
c.6465T>C (p.Ala2155=)
c.6528T>C (p.Ala2176=)
c.6525T>C (p.Ala2175=)
c.6471T>C (p.Ala2157=)
c.6396T>C (p.Ala2132=)
c.5991T>C (p.Ala1997=)
c.5349T>C (p.Ala1783=)
c.2859T>C (p.Ala953=)
n.6774T>C
 ClinVar
10g.71793265C>ACA377154400CDH23c.6337C>A (p.Gln2113Lys)
c.6352C>A (p.Gln2118Lys)
c.6532C>A (p.Gln2178Lys)
c.6466C>A (p.Gln2156Lys)
c.6529C>A (p.Gln2177Lys)
c.6526C>A (p.Gln2176Lys)
c.6472C>A (p.Gln2158Lys)
c.6397C>A (p.Gln2133Lys)
c.5992C>A (p.Gln1998Lys)
c.5350C>A (p.Gln1784Lys)
c.2860C>A (p.Gln954Lys)
n.6775C>A
 dbSNP
10g.71793265C=CA1918874194CDH23c.6337C= (p.Gln2113=)
c.6352C= (p.Gln2118=)
c.6532C= (p.Gln2178=)
c.6466C= (p.Gln2156=)
c.6529C= (p.Gln2177=)
c.6526C= (p.Gln2176=)
c.6472C= (p.Gln2158=)
c.6397C= (p.Gln2133=)
c.5992C= (p.Gln1998=)
c.5350C= (p.Gln1784=)
c.2860C= (p.Gln954=)
n.6775C=
10g.71793265C>GCA377154407CDH23c.6337C>G (p.Gln2113Glu)
c.6352C>G (p.Gln2118Glu)
c.6532C>G (p.Gln2178Glu)
c.6466C>G (p.Gln2156Glu)
c.6529C>G (p.Gln2177Glu)
c.6526C>G (p.Gln2176Glu)
c.6472C>G (p.Gln2158Glu)
c.6397C>G (p.Gln2133Glu)
c.5992C>G (p.Gln1998Glu)
c.5350C>G (p.Gln1784Glu)
c.2860C>G (p.Gln954Glu)
n.6775C>G
10g.71793265C>TCA5546058CDH23c.6337C>T (p.Gln2113Ter)
c.6352C>T (p.Gln2118Ter)
c.6532C>T (p.Gln2178Ter)
c.6466C>T (p.Gln2156Ter)
c.6529C>T (p.Gln2177Ter)
c.6526C>T (p.Gln2176Ter)
c.6472C>T (p.Gln2158Ter)
c.6397C>T (p.Gln2133Ter)
c.5992C>T (p.Gln1998Ter)
c.5350C>T (p.Gln1784Ter)
c.2860C>T (p.Gln954Ter)
n.6775C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793266A=CA1918874196CDH23c.6338A= (p.Gln2113=)
c.6353A= (p.Gln2118=)
c.6533A= (p.Gln2178=)
c.6467A= (p.Gln2156=)
c.6530A= (p.Gln2177=)
c.6527A= (p.Gln2176=)
c.6473A= (p.Gln2158=)
c.6398A= (p.Gln2133=)
c.5993A= (p.Gln1998=)
c.5351A= (p.Gln1784=)
c.2861A= (p.Gln954=)
n.6776A=
10g.71793266A>CCA377154411CDH23c.6338A>C (p.Gln2113Pro)
c.6353A>C (p.Gln2118Pro)
c.6533A>C (p.Gln2178Pro)
c.6467A>C (p.Gln2156Pro)
c.6530A>C (p.Gln2177Pro)
c.6527A>C (p.Gln2176Pro)
c.6473A>C (p.Gln2158Pro)
c.6398A>C (p.Gln2133Pro)
c.5993A>C (p.Gln1998Pro)
c.5351A>C (p.Gln1784Pro)
c.2861A>C (p.Gln954Pro)
n.6776A>C
10g.71793266A>GCA377154412CDH23c.6338A>G (p.Gln2113Arg)
c.6353A>G (p.Gln2118Arg)
c.6533A>G (p.Gln2178Arg)
c.6467A>G (p.Gln2156Arg)
c.6530A>G (p.Gln2177Arg)
c.6527A>G (p.Gln2176Arg)
c.6473A>G (p.Gln2158Arg)
c.6398A>G (p.Gln2133Arg)
c.5993A>G (p.Gln1998Arg)
c.5351A>G (p.Gln1784Arg)
c.2861A>G (p.Gln954Arg)
n.6776A>G
 dbSNP gnomAD v4
10g.71793266A>TCA209466001CDH23c.6338A>T (p.Gln2113Leu)
c.6353A>T (p.Gln2118Leu)
c.6533A>T (p.Gln2178Leu)
c.6467A>T (p.Gln2156Leu)
c.6530A>T (p.Gln2177Leu)
c.6527A>T (p.Gln2176Leu)
c.6473A>T (p.Gln2158Leu)
c.6398A>T (p.Gln2133Leu)
c.5993A>T (p.Gln1998Leu)
c.5351A>T (p.Gln1784Leu)
c.2861A>T (p.Gln954Leu)
n.6776A>T
 dbSNP
10g.71793267G>ACA2580081859CDH23c.6339G>A (p.Gln2113=)
c.6354G>A (p.Gln2118=)
c.6534G>A (p.Gln2178=)
c.6468G>A (p.Gln2156=)
c.6531G>A (p.Gln2177=)
c.6528G>A (p.Gln2176=)
c.6474G>A (p.Gln2158=)
c.6399G>A (p.Gln2133=)
c.5994G>A (p.Gln1998=)
c.5352G>A (p.Gln1784=)
c.2862G>A (p.Gln954=)
n.6777G>A
 ClinVar
10g.71793267G>CCA377154421CDH23c.6339G>C (p.Gln2113His)
c.6354G>C (p.Gln2118His)
c.6534G>C (p.Gln2178His)
c.6468G>C (p.Gln2156His)
c.6531G>C (p.Gln2177His)
c.6528G>C (p.Gln2176His)
c.6474G>C (p.Gln2158His)
c.6399G>C (p.Gln2133His)
c.5994G>C (p.Gln1998His)
c.5352G>C (p.Gln1784His)
c.2862G>C (p.Gln954His)
n.6777G>C
10g.71793267G>TCA377154424CDH23c.6339G>T (p.Gln2113His)
c.6354G>T (p.Gln2118His)
c.6534G>T (p.Gln2178His)
c.6468G>T (p.Gln2156His)
c.6531G>T (p.Gln2177His)
c.6528G>T (p.Gln2176His)
c.6474G>T (p.Gln2158His)
c.6399G>T (p.Gln2133His)
c.5994G>T (p.Gln1998His)
c.5352G>T (p.Gln1784His)
c.2862G>T (p.Gln954His)
n.6777G>T
10g.71793268G>ACA209466006CDH23c.6340G>A (p.Asp2114Asn)
c.6355G>A (p.Asp2119Asn)
c.6535G>A (p.Asp2179Asn)
c.6469G>A (p.Asp2157Asn)
c.6532G>A (p.Asp2178Asn)
c.6529G>A (p.Asp2177Asn)
c.6475G>A (p.Asp2159Asn)
c.6400G>A (p.Asp2134Asn)
c.5995G>A (p.Asp1999Asn)
c.5353G>A (p.Asp1785Asn)
c.2863G>A (p.Asp955Asn)
n.6778G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71793268G>CCA377154427CDH23c.6340G>C (p.Asp2114His)
c.6355G>C (p.Asp2119His)
c.6535G>C (p.Asp2179His)
c.6469G>C (p.Asp2157His)
c.6532G>C (p.Asp2178His)
c.6529G>C (p.Asp2177His)
c.6475G>C (p.Asp2159His)
c.6400G>C (p.Asp2134His)
c.5995G>C (p.Asp1999His)
c.5353G>C (p.Asp1785His)
c.2863G>C (p.Asp955His)
n.6778G>C
10g.71793268G=CA1918874197CDH23c.6340G= (p.Asp2114=)
c.6355G= (p.Asp2119=)
c.6535G= (p.Asp2179=)
c.6469G= (p.Asp2157=)
c.6532G= (p.Asp2178=)
c.6529G= (p.Asp2177=)
c.6475G= (p.Asp2159=)
c.6400G= (p.Asp2134=)
c.5995G= (p.Asp1999=)
c.5353G= (p.Asp1785=)
c.2863G= (p.Asp955=)
n.6778G=
10g.71793268G>TCA377154428CDH23c.6340G>T (p.Asp2114Tyr)
c.6355G>T (p.Asp2119Tyr)
c.6535G>T (p.Asp2179Tyr)
c.6469G>T (p.Asp2157Tyr)
c.6532G>T (p.Asp2178Tyr)
c.6529G>T (p.Asp2177Tyr)
c.6475G>T (p.Asp2159Tyr)
c.6400G>T (p.Asp2134Tyr)
c.5995G>T (p.Asp1999Tyr)
c.5353G>T (p.Asp1785Tyr)
c.2863G>T (p.Asp955Tyr)
n.6778G>T
10g.71793269A>CCA377154431CDH23c.6341A>C (p.Asp2114Ala)
c.6356A>C (p.Asp2119Ala)
c.6536A>C (p.Asp2179Ala)
c.6470A>C (p.Asp2157Ala)
c.6533A>C (p.Asp2178Ala)
c.6530A>C (p.Asp2177Ala)
c.6476A>C (p.Asp2159Ala)
c.6401A>C (p.Asp2134Ala)
c.5996A>C (p.Asp1999Ala)
c.5354A>C (p.Asp1785Ala)
c.2864A>C (p.Asp955Ala)
n.6779A>C
10g.71793269A>GCA377154433CDH23c.6341A>G (p.Asp2114Gly)
c.6356A>G (p.Asp2119Gly)
c.6536A>G (p.Asp2179Gly)
c.6470A>G (p.Asp2157Gly)
c.6533A>G (p.Asp2178Gly)
c.6530A>G (p.Asp2177Gly)
c.6476A>G (p.Asp2159Gly)
c.6401A>G (p.Asp2134Gly)
c.5996A>G (p.Asp1999Gly)
c.5354A>G (p.Asp1785Gly)
c.2864A>G (p.Asp955Gly)
n.6779A>G
10g.71793269A>TCA377154430CDH23c.6341A>T (p.Asp2114Val)
c.6356A>T (p.Asp2119Val)
c.6536A>T (p.Asp2179Val)
c.6470A>T (p.Asp2157Val)
c.6533A>T (p.Asp2178Val)
c.6530A>T (p.Asp2177Val)
c.6476A>T (p.Asp2159Val)
c.6401A>T (p.Asp2134Val)
c.5996A>T (p.Asp1999Val)
c.5354A>T (p.Asp1785Val)
c.2864A>T (p.Asp955Val)
n.6779A>T
10g.71793270C>ACA377154435CDH23c.6342C>A (p.Asp2114Glu)
c.6357C>A (p.Asp2119Glu)
c.6537C>A (p.Asp2179Glu)
c.6471C>A (p.Asp2157Glu)
c.6534C>A (p.Asp2178Glu)
c.6531C>A (p.Asp2177Glu)
c.6477C>A (p.Asp2159Glu)
c.6402C>A (p.Asp2134Glu)
c.5997C>A (p.Asp1999Glu)
c.5355C>A (p.Asp1785Glu)
c.2865C>A (p.Asp955Glu)
n.6780C>A
 dbSNP
10g.71793270C>GCA377154437CDH23c.6342C>G (p.Asp2114Glu)
c.6357C>G (p.Asp2119Glu)
c.6537C>G (p.Asp2179Glu)
c.6471C>G (p.Asp2157Glu)
c.6534C>G (p.Asp2178Glu)
c.6531C>G (p.Asp2177Glu)
c.6477C>G (p.Asp2159Glu)
c.6402C>G (p.Asp2134Glu)
c.5997C>G (p.Asp1999Glu)
c.5355C>G (p.Asp1785Glu)
c.2865C>G (p.Asp955Glu)
n.6780C>G
10g.71793271C>ACA377154440CDH23c.6343C>A (p.Arg2115Ser)
c.6358C>A (p.Arg2120Ser)
c.6538C>A (p.Arg2180Ser)
c.6472C>A (p.Arg2158Ser)
c.6535C>A (p.Arg2179Ser)
c.6532C>A (p.Arg2178Ser)
c.6478C>A (p.Arg2160Ser)
c.6403C>A (p.Arg2135Ser)
c.5998C>A (p.Arg2000Ser)
c.5356C>A (p.Arg1786Ser)
c.2866C>A (p.Arg956Ser)
n.6781C>A
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71793271C=CA1918874200CDH23c.6343C= (p.Arg2115=)
c.6358C= (p.Arg2120=)
c.6538C= (p.Arg2180=)
c.6472C= (p.Arg2158=)
c.6535C= (p.Arg2179=)
c.6532C= (p.Arg2178=)
c.6478C= (p.Arg2160=)
c.6403C= (p.Arg2135=)
c.5998C= (p.Arg2000=)
c.5356C= (p.Arg1786=)
c.2866C= (p.Arg956=)
n.6781C=
10g.71793271C>GCA5546060CDH23c.6343C>G (p.Arg2115Gly)
c.6358C>G (p.Arg2120Gly)
c.6538C>G (p.Arg2180Gly)
c.6472C>G (p.Arg2158Gly)
c.6535C>G (p.Arg2179Gly)
c.6532C>G (p.Arg2178Gly)
c.6478C>G (p.Arg2160Gly)
c.6403C>G (p.Arg2135Gly)
c.5998C>G (p.Arg2000Gly)
c.5356C>G (p.Arg1786Gly)
c.2866C>G (p.Arg956Gly)
n.6781C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793271C>TCA5546059CDH23c.6343C>T (p.Arg2115Cys)
c.6358C>T (p.Arg2120Cys)
c.6538C>T (p.Arg2180Cys)
c.6472C>T (p.Arg2158Cys)
c.6535C>T (p.Arg2179Cys)
c.6532C>T (p.Arg2178Cys)
c.6478C>T (p.Arg2160Cys)
c.6403C>T (p.Arg2135Cys)
c.5998C>T (p.Arg2000Cys)
c.5356C>T (p.Arg1786Cys)
c.2866C>T (p.Arg956Cys)
n.6781C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793271_71793272delinsCGCA1918874202CDH23c.6343_6344delinsCG (p.Arg2115=)
c.6358_6359delinsCG (p.Arg2120=)
c.6538_6539delinsCG (p.Arg2180=)
c.6472_6473delinsCG (p.Arg2158=)
c.6535_6536delinsCG (p.Arg2179=)
c.6532_6533delinsCG (p.Arg2178=)
c.6478_6479delinsCG (p.Arg2160=)
c.6403_6404delinsCG (p.Arg2135=)
c.5998_5999delinsCG (p.Arg2000=)
c.5356_5357delinsCG (p.Arg1786=)
c.2866_2867delinsCG (p.Arg956=)
n.6781_6782delinsCG

Number of alleles fetched