Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71687622T>CCA2536610496CDH23c.1987-25T>C (n.1987-25T>C)
c.1418-25T>C
c.2002-25T>C (n.2002-25T>C)
c.762-25T>C
c.2182-25T>C (n.2182-25T>C)
c.2116-25T>C (n.2116-25T>C)
c.2176-25T>C (n.2176-25T>C)
c.2122-25T>C (n.2122-25T>C)
c.2047-25T>C (n.2047-25T>C)
c.1642-25T>C (n.1642-25T>C)
c.1000-25T>C (n.1000-25T>C)
n.2425-25T>C
 gnomAD v4
10g.71687622T>GCA2609541941CDH23c.1987-25T>G (n.1987-25T>G)
c.1418-25T>G
c.2002-25T>G (n.2002-25T>G)
c.762-25T>G
c.2182-25T>G (n.2182-25T>G)
c.2116-25T>G (n.2116-25T>G)
c.2176-25T>G (n.2176-25T>G)
c.2122-25T>G (n.2122-25T>G)
c.2047-25T>G (n.2047-25T>G)
c.1642-25T>G (n.1642-25T>G)
c.1000-25T>G (n.1000-25T>G)
n.2425-25T>G
 gnomAD v4
10g.71687622dupCA2609541940CDH23c.1987-25dup (n.1987-25dup)
c.1418-25dup
c.2002-25dup (n.2002-25dup)
c.762-25dup
c.2182-25dup (n.2182-25dup)
c.2116-25dup (n.2116-25dup)
c.2176-25dup (n.2176-25dup)
c.2122-25dup (n.2122-25dup)
c.2047-25dup (n.2047-25dup)
c.1642-25dup (n.1642-25dup)
c.1000-25dup (n.1000-25dup)
n.2425-25dup
 gnomAD v4
10g.71687623G>ACA2609541942CDH23c.1987-24G>A (n.1987-24G>A)
c.1418-24G>A
c.2002-24G>A (n.2002-24G>A)
c.762-24G>A
c.2182-24G>A (n.2182-24G>A)
c.2116-24G>A (n.2116-24G>A)
c.2176-24G>A (n.2176-24G>A)
c.2122-24G>A (n.2122-24G>A)
c.2047-24G>A (n.2047-24G>A)
c.1642-24G>A (n.1642-24G>A)
c.1000-24G>A (n.1000-24G>A)
n.2425-24G>A
 gnomAD v4
10g.71687623G>CCA5544039CDH23c.1987-24G>C (n.1987-24G>C)
c.1418-24G>C
c.2002-24G>C (n.2002-24G>C)
c.762-24G>C
c.2182-24G>C (n.2182-24G>C)
c.2116-24G>C (n.2116-24G>C)
c.2176-24G>C (n.2176-24G>C)
c.2122-24G>C (n.2122-24G>C)
c.2047-24G>C (n.2047-24G>C)
c.1642-24G>C (n.1642-24G>C)
c.1000-24G>C (n.1000-24G>C)
n.2425-24G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687623G=CA1918826380CDH23c.1987-24G= (n.1987-24G=)
c.1418-24G=
c.2002-24G= (n.2002-24G=)
c.762-24G=
c.2182-24G= (n.2182-24G=)
c.2116-24G= (n.2116-24G=)
c.2176-24G= (n.2176-24G=)
c.2122-24G= (n.2122-24G=)
c.2047-24G= (n.2047-24G=)
c.1642-24G= (n.1642-24G=)
c.1000-24G= (n.1000-24G=)
n.2425-24G=
10g.71687624delCA2574586477CDH23c.1987-23del (n.1987-23del)
c.1418-23del
c.2002-23del (n.2002-23del)
c.762-23del
c.2182-23del (n.2182-23del)
c.2116-23del (n.2116-23del)
c.2176-23del (n.2176-23del)
c.2122-23del (n.2122-23del)
c.2047-23del (n.2047-23del)
c.1642-23del (n.1642-23del)
c.1000-23del (n.1000-23del)
n.2425-23del
10g.71687624C>ACA209436009CDH23c.1987-23C>A (n.1987-23C>A)
c.1418-23C>A
c.2002-23C>A (n.2002-23C>A)
c.762-23C>A
c.2182-23C>A (n.2182-23C>A)
c.2116-23C>A (n.2116-23C>A)
c.2176-23C>A (n.2176-23C>A)
c.2122-23C>A (n.2122-23C>A)
c.2047-23C>A (n.2047-23C>A)
c.1642-23C>A (n.1642-23C>A)
c.1000-23C>A (n.1000-23C>A)
n.2425-23C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71687624C=CA1918826381CDH23c.1987-23C= (n.1987-23C=)
c.1418-23C=
c.2002-23C= (n.2002-23C=)
c.762-23C=
c.2182-23C= (n.2182-23C=)
c.2116-23C= (n.2116-23C=)
c.2176-23C= (n.2176-23C=)
c.2122-23C= (n.2122-23C=)
c.2047-23C= (n.2047-23C=)
c.1642-23C= (n.1642-23C=)
c.1000-23C= (n.1000-23C=)
n.2425-23C=
10g.71687625A=CA1918826382CDH23c.1987-22A= (n.1987-22A=)
c.1418-22A=
c.2002-22A= (n.2002-22A=)
c.762-22A=
c.2182-22A= (n.2182-22A=)
c.2116-22A= (n.2116-22A=)
c.2176-22A= (n.2176-22A=)
c.2122-22A= (n.2122-22A=)
c.2047-22A= (n.2047-22A=)
c.1642-22A= (n.1642-22A=)
c.1000-22A= (n.1000-22A=)
n.2425-22A=
10g.71687625A>CCA668133157CDH23c.1987-22A>C (n.1987-22A>C)
c.1418-22A>C
c.2002-22A>C (n.2002-22A>C)
c.762-22A>C
c.2182-22A>C (n.2182-22A>C)
c.2116-22A>C (n.2116-22A>C)
c.2176-22A>C (n.2176-22A>C)
c.2122-22A>C (n.2122-22A>C)
c.2047-22A>C (n.2047-22A>C)
c.1642-22A>C (n.1642-22A>C)
c.1000-22A>C (n.1000-22A>C)
n.2425-22A>C
 dbSNP gnomAD v3 gnomAD v4
10g.71687625A>GCA2609541943CDH23c.1987-22A>G (n.1987-22A>G)
c.1418-22A>G
c.2002-22A>G (n.2002-22A>G)
c.762-22A>G
c.2182-22A>G (n.2182-22A>G)
c.2116-22A>G (n.2116-22A>G)
c.2176-22A>G (n.2176-22A>G)
c.2122-22A>G (n.2122-22A>G)
c.2047-22A>G (n.2047-22A>G)
c.1642-22A>G (n.1642-22A>G)
c.1000-22A>G (n.1000-22A>G)
n.2425-22A>G
 gnomAD v4
10g.71687626A>TCA2609541944CDH23c.1987-21A>T (n.1987-21A>T)
c.1418-21A>T
c.2002-21A>T (n.2002-21A>T)
c.762-21A>T
c.2182-21A>T (n.2182-21A>T)
c.2116-21A>T (n.2116-21A>T)
c.2176-21A>T (n.2176-21A>T)
c.2122-21A>T (n.2122-21A>T)
c.2047-21A>T (n.2047-21A>T)
c.1642-21A>T (n.1642-21A>T)
c.1000-21A>T (n.1000-21A>T)
n.2425-21A>T
 gnomAD v4
10g.71687627C=CA1918826384CDH23c.1987-20C= (n.1987-20C=)
c.1418-20C=
c.2002-20C= (n.2002-20C=)
c.762-20C=
c.2182-20C= (n.2182-20C=)
c.2116-20C= (n.2116-20C=)
c.2176-20C= (n.2176-20C=)
c.2122-20C= (n.2122-20C=)
c.2047-20C= (n.2047-20C=)
c.1642-20C= (n.1642-20C=)
c.1000-20C= (n.1000-20C=)
n.2425-20C=
10g.71687627C>TCA209436010CDH23c.1987-20C>T (n.1987-20C>T)
c.1418-20C>T
c.2002-20C>T (n.2002-20C>T)
c.762-20C>T
c.2182-20C>T (n.2182-20C>T)
c.2116-20C>T (n.2116-20C>T)
c.2176-20C>T (n.2176-20C>T)
c.2122-20C>T (n.2122-20C>T)
c.2047-20C>T (n.2047-20C>T)
c.1642-20C>T (n.1642-20C>T)
c.1000-20C>T (n.1000-20C>T)
n.2425-20C>T
 dbSNP
10g.71687627_71687631delinsCCTGTCA1918826383CDH23c.1987-20_1987-16delinsCCTGT (n.1987-20_1987-16delinsCCTGT)
c.1418-20_1418-16delinsCCTGT
c.2002-20_2002-16delinsCCTGT (n.2002-20_2002-16delinsCCTGT)
c.762-20_762-16delinsCCTGT
c.2182-20_2182-16delinsCCTGT (n.2182-20_2182-16delinsCCTGT)
c.2116-20_2116-16delinsCCTGT (n.2116-20_2116-16delinsCCTGT)
c.2176-20_2176-16delinsCCTGT (n.2176-20_2176-16delinsCCTGT)
c.2122-20_2122-16delinsCCTGT (n.2122-20_2122-16delinsCCTGT)
c.2047-20_2047-16delinsCCTGT (n.2047-20_2047-16delinsCCTGT)
c.1642-20_1642-16delinsCCTGT (n.1642-20_1642-16delinsCCTGT)
c.1000-20_1000-16delinsCCTGT (n.1000-20_1000-16delinsCCTGT)
n.2425-20_2425-16delinsCCTGT
10g.71687628C>TCA2722241474CDH23c.1987-19C>T (n.1987-19C>T)
c.1418-19C>T
c.2002-19C>T (n.2002-19C>T)
c.762-19C>T
c.2182-19C>T (n.2182-19C>T)
c.2116-19C>T (n.2116-19C>T)
c.2176-19C>T (n.2176-19C>T)
c.2122-19C>T (n.2122-19C>T)
c.2047-19C>T (n.2047-19C>T)
c.1642-19C>T (n.1642-19C>T)
c.1000-19C>T (n.1000-19C>T)
n.2425-19C>T
 dbSNP
10g.71687632_71687635delCA594313390CDH23c.1987-15_1987-12del (n.1987-15_1987-12del)
c.1418-15_1418-12del
c.2002-15_2002-12del (n.2002-15_2002-12del)
c.762-15_762-12del
c.2182-15_2182-12del (n.2182-15_2182-12del)
c.2116-15_2116-12del (n.2116-15_2116-12del)
c.2176-15_2176-12del (n.2176-15_2176-12del)
c.2122-15_2122-12del (n.2122-15_2122-12del)
c.2047-15_2047-12del (n.2047-15_2047-12del)
c.1642-15_1642-12del (n.1642-15_1642-12del)
c.1000-15_1000-12del (n.1000-15_1000-12del)
n.2425-15_2425-12del
 dbSNP gnomAD v2 gnomAD v4
10g.71687629T>ACA2609541945CDH23c.1987-18T>A (n.1987-18T>A)
c.1418-18T>A
c.2002-18T>A (n.2002-18T>A)
c.762-18T>A
c.2182-18T>A (n.2182-18T>A)
c.2116-18T>A (n.2116-18T>A)
c.2176-18T>A (n.2176-18T>A)
c.2122-18T>A (n.2122-18T>A)
c.2047-18T>A (n.2047-18T>A)
c.1642-18T>A (n.1642-18T>A)
c.1000-18T>A (n.1000-18T>A)
n.2425-18T>A
 gnomAD v4
10g.71687630G>ACA5544040CDH23c.1987-17G>A (n.1987-17G>A)
c.1418-17G>A
c.2002-17G>A (n.2002-17G>A)
c.762-17G>A
c.2182-17G>A (n.2182-17G>A)
c.2116-17G>A (n.2116-17G>A)
c.2176-17G>A (n.2176-17G>A)
c.2122-17G>A (n.2122-17G>A)
c.2047-17G>A (n.2047-17G>A)
c.1642-17G>A (n.1642-17G>A)
c.1000-17G>A (n.1000-17G>A)
n.2425-17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687630G=CA1918826385CDH23c.1987-17G= (n.1987-17G=)
c.1418-17G=
c.2002-17G= (n.2002-17G=)
c.762-17G=
c.2182-17G= (n.2182-17G=)
c.2116-17G= (n.2116-17G=)
c.2176-17G= (n.2176-17G=)
c.2122-17G= (n.2122-17G=)
c.2047-17G= (n.2047-17G=)
c.1642-17G= (n.1642-17G=)
c.1000-17G= (n.1000-17G=)
n.2425-17G=
10g.71687632C>TCA2722241517CDH23c.1987-15C>T (n.1987-15C>T)
c.1418-15C>T
c.2002-15C>T (n.2002-15C>T)
c.762-15C>T
c.2182-15C>T (n.2182-15C>T)
c.2116-15C>T (n.2116-15C>T)
c.2176-15C>T (n.2176-15C>T)
c.2122-15C>T (n.2122-15C>T)
c.2047-15C>T (n.2047-15C>T)
c.1642-15C>T (n.1642-15C>T)
c.1000-15C>T (n.1000-15C>T)
n.2425-15C>T
 dbSNP
10g.71687632_71687634delinsCTGCA1918826386CDH23c.1987-15_1987-13delinsCTG (n.1987-15_1987-13delinsCTG)
c.1418-15_1418-13delinsCTG
c.2002-15_2002-13delinsCTG (n.2002-15_2002-13delinsCTG)
c.762-15_762-13delinsCTG
c.2182-15_2182-13delinsCTG (n.2182-15_2182-13delinsCTG)
c.2116-15_2116-13delinsCTG (n.2116-15_2116-13delinsCTG)
c.2176-15_2176-13delinsCTG (n.2176-15_2176-13delinsCTG)
c.2122-15_2122-13delinsCTG (n.2122-15_2122-13delinsCTG)
c.2047-15_2047-13delinsCTG (n.2047-15_2047-13delinsCTG)
c.1642-15_1642-13delinsCTG (n.1642-15_1642-13delinsCTG)
c.1000-15_1000-13delinsCTG (n.1000-15_1000-13delinsCTG)
n.2425-15_2425-13delinsCTG
10g.71687636_71687637delCA594313395CDH23c.1987-11_1987-10del (n.1987-11_1987-10del)
c.1418-11_1418-10del
c.2002-11_2002-10del (n.2002-11_2002-10del)
c.762-11_762-10del
c.2182-11_2182-10del (n.2182-11_2182-10del)
c.2116-11_2116-10del (n.2116-11_2116-10del)
c.2176-11_2176-10del (n.2176-11_2176-10del)
c.2122-11_2122-10del (n.2122-11_2122-10del)
c.2047-11_2047-10del (n.2047-11_2047-10del)
c.1642-11_1642-10del (n.1642-11_1642-10del)
c.1000-11_1000-10del (n.1000-11_1000-10del)
n.2425-11_2425-10del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71687635T>ACA5544041CDH23c.1987-12T>A (n.1987-12T>A)
c.1418-12T>A
c.2002-12T>A (n.2002-12T>A)
c.762-12T>A
c.2182-12T>A (n.2182-12T>A)
c.2116-12T>A (n.2116-12T>A)
c.2176-12T>A (n.2176-12T>A)
c.2122-12T>A (n.2122-12T>A)
c.2047-12T>A (n.2047-12T>A)
c.1642-12T>A (n.1642-12T>A)
c.1000-12T>A (n.1000-12T>A)
n.2425-12T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687635T>CCA2574586478CDH23c.1987-12T>C (n.1987-12T>C)
c.1418-12T>C
c.2002-12T>C (n.2002-12T>C)
c.762-12T>C
c.2182-12T>C (n.2182-12T>C)
c.2116-12T>C (n.2116-12T>C)
c.2176-12T>C (n.2176-12T>C)
c.2122-12T>C (n.2122-12T>C)
c.2047-12T>C (n.2047-12T>C)
c.1642-12T>C (n.1642-12T>C)
c.1000-12T>C (n.1000-12T>C)
n.2425-12T>C
10g.71687635T=CA1918826387CDH23c.1987-12T= (n.1987-12T=)
c.1418-12T=
c.2002-12T= (n.2002-12T=)
c.762-12T=
c.2182-12T= (n.2182-12T=)
c.2116-12T= (n.2116-12T=)
c.2176-12T= (n.2176-12T=)
c.2122-12T= (n.2122-12T=)
c.2047-12T= (n.2047-12T=)
c.1642-12T= (n.1642-12T=)
c.1000-12T= (n.1000-12T=)
n.2425-12T=
10g.71687636G>ACA5544042CDH23c.1987-11G>A (n.1987-11G>A)
c.1418-11G>A
c.2002-11G>A (n.2002-11G>A)
c.762-11G>A
c.2182-11G>A (n.2182-11G>A)
c.2116-11G>A (n.2116-11G>A)
c.2176-11G>A (n.2176-11G>A)
c.2122-11G>A (n.2122-11G>A)
c.2047-11G>A (n.2047-11G>A)
c.1642-11G>A (n.1642-11G>A)
c.1000-11G>A (n.1000-11G>A)
n.2425-11G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687636G=CA1918826388CDH23c.1987-11G= (n.1987-11G=)
c.1418-11G=
c.2002-11G= (n.2002-11G=)
c.762-11G=
c.2182-11G= (n.2182-11G=)
c.2116-11G= (n.2116-11G=)
c.2176-11G= (n.2176-11G=)
c.2122-11G= (n.2122-11G=)
c.2047-11G= (n.2047-11G=)
c.1642-11G= (n.1642-11G=)
c.1000-11G= (n.1000-11G=)
n.2425-11G=
10g.71687637T>CCA594313396CDH23c.1987-10T>C (n.1987-10T>C)
c.1418-10T>C
c.2002-10T>C (n.2002-10T>C)
c.762-10T>C
c.2182-10T>C (n.2182-10T>C)
c.2116-10T>C (n.2116-10T>C)
c.2176-10T>C (n.2176-10T>C)
c.2122-10T>C (n.2122-10T>C)
c.2047-10T>C (n.2047-10T>C)
c.1642-10T>C (n.1642-10T>C)
c.1000-10T>C (n.1000-10T>C)
n.2425-10T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71687637T=CA1918826389CDH23c.1987-10T= (n.1987-10T=)
c.1418-10T=
c.2002-10T= (n.2002-10T=)
c.762-10T=
c.2182-10T= (n.2182-10T=)
c.2116-10T= (n.2116-10T=)
c.2176-10T= (n.2176-10T=)
c.2122-10T= (n.2122-10T=)
c.2047-10T= (n.2047-10T=)
c.1642-10T= (n.1642-10T=)
c.1000-10T= (n.1000-10T=)
n.2425-10T=
10g.71687638dupCA2739275785CDH23c.1987-9dup (n.1987-9dup)
c.1418-9dup
c.2002-9dup (n.2002-9dup)
c.762-9dup
c.2182-9dup (n.2182-9dup)
c.2116-9dup (n.2116-9dup)
c.2176-9dup (n.2176-9dup)
c.2122-9dup (n.2122-9dup)
c.2047-9dup (n.2047-9dup)
c.1642-9dup (n.1642-9dup)
c.1000-9dup (n.1000-9dup)
n.2425-9dup
 ClinVar
10g.71687639C=CA1918826390CDH23c.1987-8C= (n.1987-8C=)
c.1418-8C=
c.2002-8C= (n.2002-8C=)
c.762-8C=
c.2182-8C= (n.2182-8C=)
c.2116-8C= (n.2116-8C=)
c.2176-8C= (n.2176-8C=)
c.2122-8C= (n.2122-8C=)
c.2047-8C= (n.2047-8C=)
c.1642-8C= (n.1642-8C=)
c.1000-8C= (n.1000-8C=)
n.2425-8C=
10g.71687639C>TCA929776661CDH23c.1987-8C>T (n.1987-8C>T)
c.1418-8C>T
c.2002-8C>T (n.2002-8C>T)
c.762-8C>T
c.2182-8C>T (n.2182-8C>T)
c.2116-8C>T (n.2116-8C>T)
c.2176-8C>T (n.2176-8C>T)
c.2122-8C>T (n.2122-8C>T)
c.2047-8C>T (n.2047-8C>T)
c.1642-8C>T (n.1642-8C>T)
c.1000-8C>T (n.1000-8C>T)
n.2425-8C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71687640C>ACA2740093031CDH23c.1987-7C>A (n.1987-7C>A)
c.1418-7C>A
c.2002-7C>A (n.2002-7C>A)
c.762-7C>A
c.2182-7C>A (n.2182-7C>A)
c.2116-7C>A (n.2116-7C>A)
c.2176-7C>A (n.2176-7C>A)
c.2122-7C>A (n.2122-7C>A)
c.2047-7C>A (n.2047-7C>A)
c.1642-7C>A (n.1642-7C>A)
c.1000-7C>A (n.1000-7C>A)
n.2425-7C>A
 ClinVar
10g.71687640C=CA1918826391CDH23c.1987-7C= (n.1987-7C=)
c.1418-7C=
c.2002-7C= (n.2002-7C=)
c.762-7C=
c.2182-7C= (n.2182-7C=)
c.2116-7C= (n.2116-7C=)
c.2176-7C= (n.2176-7C=)
c.2122-7C= (n.2122-7C=)
c.2047-7C= (n.2047-7C=)
c.1642-7C= (n.1642-7C=)
c.1000-7C= (n.1000-7C=)
n.2425-7C=
10g.71687640C>TCA668133171CDH23c.1987-7C>T (n.1987-7C>T)
c.1418-7C>T
c.2002-7C>T (n.2002-7C>T)
c.762-7C>T
c.2182-7C>T (n.2182-7C>T)
c.2116-7C>T (n.2116-7C>T)
c.2176-7C>T (n.2176-7C>T)
c.2122-7C>T (n.2122-7C>T)
c.2047-7C>T (n.2047-7C>T)
c.1642-7C>T (n.1642-7C>T)
c.1000-7C>T (n.1000-7C>T)
n.2425-7C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71687641T>ACA5544043CDH23c.1987-6T>A (n.1987-6T>A)
c.1418-6T>A
c.2002-6T>A (n.2002-6T>A)
c.762-6T>A
c.2182-6T>A (n.2182-6T>A)
c.2116-6T>A (n.2116-6T>A)
c.2176-6T>A (n.2176-6T>A)
c.2122-6T>A (n.2122-6T>A)
c.2047-6T>A (n.2047-6T>A)
c.1642-6T>A (n.1642-6T>A)
c.1000-6T>A (n.1000-6T>A)
n.2425-6T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687641T=CA1918826392CDH23c.1987-6T= (n.1987-6T=)
c.1418-6T=
c.2002-6T= (n.2002-6T=)
c.762-6T=
c.2182-6T= (n.2182-6T=)
c.2116-6T= (n.2116-6T=)
c.2176-6T= (n.2176-6T=)
c.2122-6T= (n.2122-6T=)
c.2047-6T= (n.2047-6T=)
c.1642-6T= (n.1642-6T=)
c.1000-6T= (n.1000-6T=)
n.2425-6T=
10g.71687642delCA2609541948CDH23c.1987-5del (n.1987-5del)
c.1418-5del
c.2002-5del (n.2002-5del)
c.762-5del
c.2182-5del (n.2182-5del)
c.2116-5del (n.2116-5del)
c.2176-5del (n.2176-5del)
c.2122-5del (n.2122-5del)
c.2047-5del (n.2047-5del)
c.1642-5del (n.1642-5del)
c.1000-5del (n.1000-5del)
n.2425-5del
 gnomAD v4
10g.71687642T>GCA594313401CDH23c.1987-5T>G (n.1987-5T>G)
c.1418-5T>G
c.2002-5T>G (n.2002-5T>G)
c.762-5T>G
c.2182-5T>G (n.2182-5T>G)
c.2116-5T>G (n.2116-5T>G)
c.2176-5T>G (n.2176-5T>G)
c.2122-5T>G (n.2122-5T>G)
c.2047-5T>G (n.2047-5T>G)
c.1642-5T>G (n.1642-5T>G)
c.1000-5T>G (n.1000-5T>G)
n.2425-5T>G
 dbSNP gnomAD v2 gnomAD v4
10g.71687642T=CA1918826393CDH23c.1987-5T= (n.1987-5T=)
c.1418-5T=
c.2002-5T= (n.2002-5T=)
c.762-5T=
c.2182-5T= (n.2182-5T=)
c.2116-5T= (n.2116-5T=)
c.2176-5T= (n.2176-5T=)
c.2122-5T= (n.2122-5T=)
c.2047-5T= (n.2047-5T=)
c.1642-5T= (n.1642-5T=)
c.1000-5T= (n.1000-5T=)
n.2425-5T=
10g.71687643C=CA1918826394CDH23c.1987-4C= (n.1987-4C=)
c.1418-4C=
c.2002-4C= (n.2002-4C=)
c.762-4C=
c.2182-4C= (n.2182-4C=)
c.2116-4C= (n.2116-4C=)
c.2176-4C= (n.2176-4C=)
c.2122-4C= (n.2122-4C=)
c.2047-4C= (n.2047-4C=)
c.1642-4C= (n.1642-4C=)
c.1000-4C= (n.1000-4C=)
n.2425-4C=
10g.71687643C>TCA5544044CDH23c.1987-4C>T (n.1987-4C>T)
c.1418-4C>T
c.2002-4C>T (n.2002-4C>T)
c.762-4C>T
c.2182-4C>T (n.2182-4C>T)
c.2116-4C>T (n.2116-4C>T)
c.2176-4C>T (n.2176-4C>T)
c.2122-4C>T (n.2122-4C>T)
c.2047-4C>T (n.2047-4C>T)
c.1642-4C>T (n.1642-4C>T)
c.1000-4C>T (n.1000-4C>T)
n.2425-4C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687644C=CA1918826395CDH23c.1987-3C= (n.1987-3C=)
c.1418-3C=
c.2002-3C= (n.2002-3C=)
c.762-3C=
c.2182-3C= (n.2182-3C=)
c.2116-3C= (n.2116-3C=)
c.2176-3C= (n.2176-3C=)
c.2122-3C= (n.2122-3C=)
c.2047-3C= (n.2047-3C=)
c.1642-3C= (n.1642-3C=)
c.1000-3C= (n.1000-3C=)
n.2425-3C=
10g.71687644C>TCA594313405CDH23c.1987-3C>T (n.1987-3C>T)
c.1418-3C>T
c.2002-3C>T (n.2002-3C>T)
c.762-3C>T
c.2182-3C>T (n.2182-3C>T)
c.2116-3C>T (n.2116-3C>T)
c.2176-3C>T (n.2176-3C>T)
c.2122-3C>T (n.2122-3C>T)
c.2047-3C>T (n.2047-3C>T)
c.1642-3C>T (n.1642-3C>T)
c.1000-3C>T (n.1000-3C>T)
n.2425-3C>T
 dbSNP gnomAD v2 gnomAD v4
10g.71687645A>CCA377133113CDH23c.1987-2A>C (n.1987-2A>C)
c.1418-2A>C
c.2002-2A>C (n.2002-2A>C)
c.762-2A>C
c.2182-2A>C (n.2182-2A>C)
c.2116-2A>C (n.2116-2A>C)
c.2176-2A>C (n.2176-2A>C)
c.2122-2A>C (n.2122-2A>C)
c.2047-2A>C (n.2047-2A>C)
c.1642-2A>C (n.1642-2A>C)
c.1000-2A>C (n.1000-2A>C)
n.2425-2A>C
10g.71687645A>GCA377133115CDH23c.1987-2A>G (n.1987-2A>G)
c.1418-2A>G
c.2002-2A>G (n.2002-2A>G)
c.762-2A>G
c.2182-2A>G (n.2182-2A>G)
c.2116-2A>G (n.2116-2A>G)
c.2176-2A>G (n.2176-2A>G)
c.2122-2A>G (n.2122-2A>G)
c.2047-2A>G (n.2047-2A>G)
c.1642-2A>G (n.1642-2A>G)
c.1000-2A>G (n.1000-2A>G)
n.2425-2A>G
10g.71687645A>TCA377133117CDH23c.1987-2A>T (n.1987-2A>T)
c.1418-2A>T
c.2002-2A>T (n.2002-2A>T)
c.762-2A>T
c.2182-2A>T (n.2182-2A>T)
c.2116-2A>T (n.2116-2A>T)
c.2176-2A>T (n.2176-2A>T)
c.2122-2A>T (n.2122-2A>T)
c.2047-2A>T (n.2047-2A>T)
c.1642-2A>T (n.1642-2A>T)
c.1000-2A>T (n.1000-2A>T)
n.2425-2A>T
10g.71687646G>ACA16609448CDH23c.1987-1G>A (n.1987-1G>A)
c.1418-1G>A
c.2002-1G>A (n.2002-1G>A)
c.762-1G>A
c.2182-1G>A (n.2182-1G>A)
c.2116-1G>A (n.2116-1G>A)
c.2176-1G>A (n.2176-1G>A)
c.2122-1G>A (n.2122-1G>A)
c.2047-1G>A (n.2047-1G>A)
c.1642-1G>A (n.1642-1G>A)
c.1000-1G>A (n.1000-1G>A)
n.2425-1G>A
 ClinVar dbSNP
10g.71687646G>CCA377133121CDH23c.1987-1G>C (n.1987-1G>C)
c.1418-1G>C
c.2002-1G>C (n.2002-1G>C)
c.762-1G>C
c.2182-1G>C (n.2182-1G>C)
c.2116-1G>C (n.2116-1G>C)
c.2176-1G>C (n.2176-1G>C)
c.2122-1G>C (n.2122-1G>C)
c.2047-1G>C (n.2047-1G>C)
c.1642-1G>C (n.1642-1G>C)
c.1000-1G>C (n.1000-1G>C)
n.2425-1G>C
10g.71687646G=CA1918826396CDH23c.1987-1G= (n.1987-1G=)
c.1418-1G=
c.2002-1G= (n.2002-1G=)
c.762-1G=
c.2182-1G= (n.2182-1G=)
c.2116-1G= (n.2116-1G=)
c.2176-1G= (n.2176-1G=)
c.2122-1G= (n.2122-1G=)
c.2047-1G= (n.2047-1G=)
c.1642-1G= (n.1642-1G=)
c.1000-1G= (n.1000-1G=)
n.2425-1G=
10g.71687646G>TCA377133119CDH23c.1987-1G>T (n.1987-1G>T)
c.1418-1G>T
c.2002-1G>T (n.2002-1G>T)
c.762-1G>T
c.2182-1G>T (n.2182-1G>T)
c.2116-1G>T (n.2116-1G>T)
c.2176-1G>T (n.2176-1G>T)
c.2122-1G>T (n.2122-1G>T)
c.2047-1G>T (n.2047-1G>T)
c.1642-1G>T (n.1642-1G>T)
c.1000-1G>T (n.1000-1G>T)
n.2425-1G>T
 ClinVar
10g.71687647G>ACA377133122CDH23c.1987G>A (p.Asp663Asn)
c.1418G>A
c.2002G>A (p.Asp668Asn)
c.762G>A
c.2182G>A (p.Asp728Asn)
c.2116G>A (p.Asp706Asn)
c.2176G>A (p.Asp726Asn)
c.2122G>A (p.Asp708Asn)
c.2047G>A (p.Asp683Asn)
c.1642G>A (p.Asp548Asn)
c.1000G>A (p.Asp334Asn)
n.2425G>A
10g.71687647G>CCA377133123CDH23c.1987G>C (p.Asp663His)
c.1418G>C
c.2002G>C (p.Asp668His)
c.762G>C
c.2182G>C (p.Asp728His)
c.2116G>C (p.Asp706His)
c.2176G>C (p.Asp726His)
c.2122G>C (p.Asp708His)
c.2047G>C (p.Asp683His)
c.1642G>C (p.Asp548His)
c.1000G>C (p.Asp334His)
n.2425G>C
10g.71687647G>TCA377133125CDH23c.1987G>T (p.Asp663Tyr)
c.1418G>T
c.2002G>T (p.Asp668Tyr)
c.762G>T
c.2182G>T (p.Asp728Tyr)
c.2116G>T (p.Asp706Tyr)
c.2176G>T (p.Asp726Tyr)
c.2122G>T (p.Asp708Tyr)
c.2047G>T (p.Asp683Tyr)
c.1642G>T (p.Asp548Tyr)
c.1000G>T (p.Asp334Tyr)
n.2425G>T
10g.71687648A>CCA377133126CDH23c.1988A>C (p.Asp663Ala)
c.1419A>C
c.2003A>C (p.Asp668Ala)
c.763A>C
c.2183A>C (p.Asp728Ala)
c.2117A>C (p.Asp706Ala)
c.2177A>C (p.Asp726Ala)
c.2123A>C (p.Asp708Ala)
c.2048A>C (p.Asp683Ala)
c.1643A>C (p.Asp548Ala)
c.1001A>C (p.Asp334Ala)
n.2426A>C
10g.71687648A>GCA377133128CDH23c.1988A>G (p.Asp663Gly)
c.1419A>G
c.2003A>G (p.Asp668Gly)
c.763A>G
c.2183A>G (p.Asp728Gly)
c.2117A>G (p.Asp706Gly)
c.2177A>G (p.Asp726Gly)
c.2123A>G (p.Asp708Gly)
c.2048A>G (p.Asp683Gly)
c.1643A>G (p.Asp548Gly)
c.1001A>G (p.Asp334Gly)
n.2426A>G
10g.71687648A>TCA377133129CDH23c.1988A>T (p.Asp663Val)
c.1419A>T
c.2003A>T (p.Asp668Val)
c.763A>T
c.2183A>T (p.Asp728Val)
c.2117A>T (p.Asp706Val)
c.2177A>T (p.Asp726Val)
c.2123A>T (p.Asp708Val)
c.2048A>T (p.Asp683Val)
c.1643A>T (p.Asp548Val)
c.1001A>T (p.Asp334Val)
n.2426A>T
10g.71687649T>ACA377133132CDH23c.1989T>A (p.Asp663Glu)
c.1420T>A
c.2004T>A (p.Asp668Glu)
c.764T>A
c.2184T>A (p.Asp728Glu)
c.2118T>A (p.Asp706Glu)
c.2178T>A (p.Asp726Glu)
c.2124T>A (p.Asp708Glu)
c.2049T>A (p.Asp683Glu)
c.1644T>A (p.Asp548Glu)
c.1002T>A (p.Asp334Glu)
n.2427T>A
 gnomAD v4
10g.71687649T>CCA470059692CDH23c.1989T>C (p.Asp663=)
c.1420T>C
c.2004T>C (p.Asp668=)
c.764T>C
c.2184T>C (p.Asp728=)
c.2118T>C (p.Asp706=)
c.2178T>C (p.Asp726=)
c.2124T>C (p.Asp708=)
c.2049T>C (p.Asp683=)
c.1644T>C (p.Asp548=)
c.1002T>C (p.Asp334=)
n.2427T>C
10g.71687649T>GCA377133134CDH23c.1989T>G (p.Asp663Glu)
c.1420T>G
c.2004T>G (p.Asp668Glu)
c.764T>G
c.2184T>G (p.Asp728Glu)
c.2118T>G (p.Asp706Glu)
c.2178T>G (p.Asp726Glu)
c.2124T>G (p.Asp708Glu)
c.2049T>G (p.Asp683Glu)
c.1644T>G (p.Asp548Glu)
c.1002T>G (p.Asp334Glu)
n.2427T>G
 gnomAD v4
10g.71687650G>ACA5544045CDH23c.1990G>A (p.Glu664Lys)
c.1421G>A
c.2005G>A (p.Glu669Lys)
c.765G>A
c.2185G>A (p.Glu729Lys)
c.2119G>A (p.Glu707Lys)
c.2179G>A (p.Glu727Lys)
c.2125G>A (p.Glu709Lys)
c.2050G>A (p.Glu684Lys)
c.1645G>A (p.Glu549Lys)
c.1003G>A (p.Glu335Lys)
n.2428G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687650G>CCA377133136CDH23c.1990G>C (p.Glu664Gln)
c.1421G>C
c.2005G>C (p.Glu669Gln)
c.765G>C
c.2185G>C (p.Glu729Gln)
c.2119G>C (p.Glu707Gln)
c.2179G>C (p.Glu727Gln)
c.2125G>C (p.Glu709Gln)
c.2050G>C (p.Glu684Gln)
c.1645G>C (p.Glu549Gln)
c.1003G>C (p.Glu335Gln)
n.2428G>C
10g.71687650G=CA1918826397CDH23c.1990G= (p.Glu664=)
c.1421G=
c.2005G= (p.Glu669=)
c.765G=
c.2185G= (p.Glu729=)
c.2119G= (p.Glu707=)
c.2179G= (p.Glu727=)
c.2125G= (p.Glu709=)
c.2050G= (p.Glu684=)
c.1645G= (p.Glu549=)
c.1003G= (p.Glu335=)
n.2428G=
10g.71687650G>TCA377133138CDH23c.1990G>T (p.Glu664Ter)
c.1421G>T
c.2005G>T (p.Glu669Ter)
c.765G>T
c.2185G>T (p.Glu729Ter)
c.2119G>T (p.Glu707Ter)
c.2179G>T (p.Glu727Ter)
c.2125G>T (p.Glu709Ter)
c.2050G>T (p.Glu684Ter)
c.1645G>T (p.Glu549Ter)
c.1003G>T (p.Glu335Ter)
n.2428G>T
10g.71687651A>CCA377133140CDH23c.1991A>C (p.Glu664Ala)
c.1422A>C
c.2006A>C (p.Glu669Ala)
c.766A>C
c.2186A>C (p.Glu729Ala)
c.2120A>C (p.Glu707Ala)
c.2180A>C (p.Glu727Ala)
c.2126A>C (p.Glu709Ala)
c.2051A>C (p.Glu684Ala)
c.1646A>C (p.Glu549Ala)
c.1004A>C (p.Glu335Ala)
n.2429A>C
10g.71687651A>GCA377133144CDH23c.1991A>G (p.Glu664Gly)
c.1422A>G
c.2006A>G (p.Glu669Gly)
c.766A>G
c.2186A>G (p.Glu729Gly)
c.2120A>G (p.Glu707Gly)
c.2180A>G (p.Glu727Gly)
c.2126A>G (p.Glu709Gly)
c.2051A>G (p.Glu684Gly)
c.1646A>G (p.Glu549Gly)
c.1004A>G (p.Glu335Gly)
n.2429A>G
10g.71687651A>TCA377133142CDH23c.1991A>T (p.Glu664Val)
c.1422A>T
c.2006A>T (p.Glu669Val)
c.766A>T
c.2186A>T (p.Glu729Val)
c.2120A>T (p.Glu707Val)
c.2180A>T (p.Glu727Val)
c.2126A>T (p.Glu709Val)
c.2051A>T (p.Glu684Val)
c.1646A>T (p.Glu549Val)
c.1004A>T (p.Glu335Val)
n.2429A>T
10g.71687652G>ACA470059696CDH23c.1992G>A (p.Glu664=)
c.1423G>A
c.2007G>A (p.Glu669=)
c.767G>A
c.2187G>A (p.Glu729=)
c.2121G>A (p.Glu707=)
c.2181G>A (p.Glu727=)
c.2127G>A (p.Glu709=)
c.2052G>A (p.Glu684=)
c.1647G>A (p.Glu549=)
c.1005G>A (p.Glu335=)
n.2430G>A
 ClinVar dbSNP gnomAD v4
10g.71687652G>CCA377133146CDH23c.1992G>C (p.Glu664Asp)
c.1423G>C
c.2007G>C (p.Glu669Asp)
c.767G>C
c.2187G>C (p.Glu729Asp)
c.2121G>C (p.Glu707Asp)
c.2181G>C (p.Glu727Asp)
c.2127G>C (p.Glu709Asp)
c.2052G>C (p.Glu684Asp)
c.1647G>C (p.Glu549Asp)
c.1005G>C (p.Glu335Asp)
n.2430G>C
10g.71687652G=CA1918826398CDH23c.1992G= (p.Glu664=)
c.1423G=
c.2007G= (p.Glu669=)
c.767G=
c.2187G= (p.Glu729=)
c.2121G= (p.Glu707=)
c.2181G= (p.Glu727=)
c.2127G= (p.Glu709=)
c.2052G= (p.Glu684=)
c.1647G= (p.Glu549=)
c.1005G= (p.Glu335=)
n.2430G=
10g.71687652G>TCA377133147CDH23c.1992G>T (p.Glu664Asp)
c.1423G>T
c.2007G>T (p.Glu669Asp)
c.767G>T
c.2187G>T (p.Glu729Asp)
c.2121G>T (p.Glu707Asp)
c.2181G>T (p.Glu727Asp)
c.2127G>T (p.Glu709Asp)
c.2052G>T (p.Glu684Asp)
c.1647G>T (p.Glu549Asp)
c.1005G>T (p.Glu335Asp)
n.2430G>T
10g.71687653A>CCA377133148CDH23c.1993A>C (p.Asn665His)
c.1424A>C
c.2008A>C (p.Asn670His)
c.768A>C
c.2188A>C (p.Asn730His)
c.2122A>C (p.Asn708His)
c.2182A>C (p.Asn728His)
c.2128A>C (p.Asn710His)
c.2053A>C (p.Asn685His)
c.1648A>C (p.Asn550His)
c.1006A>C (p.Asn336His)
n.2431A>C
10g.71687653A>GCA377133150CDH23c.1993A>G (p.Asn665Asp)
c.1424A>G
c.2008A>G (p.Asn670Asp)
c.768A>G
c.2188A>G (p.Asn730Asp)
c.2122A>G (p.Asn708Asp)
c.2182A>G (p.Asn728Asp)
c.2128A>G (p.Asn710Asp)
c.2053A>G (p.Asn685Asp)
c.1648A>G (p.Asn550Asp)
c.1006A>G (p.Asn336Asp)
n.2431A>G
10g.71687653A>TCA377133152CDH23c.1993A>T (p.Asn665Tyr)
c.1424A>T
c.2008A>T (p.Asn670Tyr)
c.768A>T
c.2188A>T (p.Asn730Tyr)
c.2122A>T (p.Asn708Tyr)
c.2182A>T (p.Asn728Tyr)
c.2128A>T (p.Asn710Tyr)
c.2053A>T (p.Asn685Tyr)
c.1648A>T (p.Asn550Tyr)
c.1006A>T (p.Asn336Tyr)
n.2431A>T
10g.71687654A>CCA377133155CDH23c.1994A>C (p.Asn665Thr)
c.1425A>C
c.2009A>C (p.Asn670Thr)
c.769A>C
c.2189A>C (p.Asn730Thr)
c.2123A>C (p.Asn708Thr)
c.2183A>C (p.Asn728Thr)
c.2129A>C (p.Asn710Thr)
c.2054A>C (p.Asn685Thr)
c.1649A>C (p.Asn550Thr)
c.1007A>C (p.Asn336Thr)
n.2432A>C
10g.71687654A>GCA377133156CDH23c.1994A>G (p.Asn665Ser)
c.1425A>G
c.2009A>G (p.Asn670Ser)
c.769A>G
c.2189A>G (p.Asn730Ser)
c.2123A>G (p.Asn708Ser)
c.2183A>G (p.Asn728Ser)
c.2129A>G (p.Asn710Ser)
c.2054A>G (p.Asn685Ser)
c.1649A>G (p.Asn550Ser)
c.1007A>G (p.Asn336Ser)
n.2432A>G
10g.71687654A>TCA377133158CDH23c.1994A>T (p.Asn665Ile)
c.1425A>T
c.2009A>T (p.Asn670Ile)
c.769A>T
c.2189A>T (p.Asn730Ile)
c.2123A>T (p.Asn708Ile)
c.2183A>T (p.Asn728Ile)
c.2129A>T (p.Asn710Ile)
c.2054A>T (p.Asn685Ile)
c.1649A>T (p.Asn550Ile)
c.1007A>T (p.Asn336Ile)
n.2432A>T
10g.71687655T>ACA377133161CDH23c.1995T>A (p.Asn665Lys)
c.1426T>A
c.2010T>A (p.Asn670Lys)
c.770T>A
c.2190T>A (p.Asn730Lys)
c.2124T>A (p.Asn708Lys)
c.2184T>A (p.Asn728Lys)
c.2130T>A (p.Asn710Lys)
c.2055T>A (p.Asn685Lys)
c.1650T>A (p.Asn550Lys)
c.1008T>A (p.Asn336Lys)
n.2433T>A
10g.71687655T>CCA470059701CDH23c.1995T>C (p.Asn665=)
c.1426T>C
c.2010T>C (p.Asn670=)
c.770T>C
c.2190T>C (p.Asn730=)
c.2124T>C (p.Asn708=)
c.2184T>C (p.Asn728=)
c.2130T>C (p.Asn710=)
c.2055T>C (p.Asn685=)
c.1650T>C (p.Asn550=)
c.1008T>C (p.Asn336=)
n.2433T>C
10g.71687655T>GCA377133163CDH23c.1995T>G (p.Asn665Lys)
c.1426T>G
c.2010T>G (p.Asn670Lys)
c.770T>G
c.2190T>G (p.Asn730Lys)
c.2124T>G (p.Asn708Lys)
c.2184T>G (p.Asn728Lys)
c.2130T>G (p.Asn710Lys)
c.2055T>G (p.Asn685Lys)
c.1650T>G (p.Asn550Lys)
c.1008T>G (p.Asn336Lys)
n.2433T>G
10g.71687656G>ACA377133165CDH23c.1996G>A (p.Asp666Asn)
c.1427G>A
c.2011G>A (p.Asp671Asn)
c.771G>A
c.2191G>A (p.Asp731Asn)
c.2125G>A (p.Asp709Asn)
c.2185G>A (p.Asp729Asn)
c.2131G>A (p.Asp711Asn)
c.2056G>A (p.Asp686Asn)
c.1651G>A (p.Asp551Asn)
c.1009G>A (p.Asp337Asn)
n.2434G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71687656G>CCA377133166CDH23c.1996G>C (p.Asp666His)
c.1427G>C
c.2011G>C (p.Asp671His)
c.771G>C
c.2191G>C (p.Asp731His)
c.2125G>C (p.Asp709His)
c.2185G>C (p.Asp729His)
c.2131G>C (p.Asp711His)
c.2056G>C (p.Asp686His)
c.1651G>C (p.Asp551His)
c.1009G>C (p.Asp337His)
n.2434G>C
 dbSNP
10g.71687656G=CA1918826399CDH23c.1996G= (p.Asp666=)
c.1427G=
c.2011G= (p.Asp671=)
c.771G=
c.2191G= (p.Asp731=)
c.2125G= (p.Asp709=)
c.2185G= (p.Asp729=)
c.2131G= (p.Asp711=)
c.2056G= (p.Asp686=)
c.1651G= (p.Asp551=)
c.1009G= (p.Asp337=)
n.2434G=
10g.71687656G>TCA377133167CDH23c.1996G>T (p.Asp666Tyr)
c.1427G>T
c.2011G>T (p.Asp671Tyr)
c.771G>T
c.2191G>T (p.Asp731Tyr)
c.2125G>T (p.Asp709Tyr)
c.2185G>T (p.Asp729Tyr)
c.2131G>T (p.Asp711Tyr)
c.2056G>T (p.Asp686Tyr)
c.1651G>T (p.Asp551Tyr)
c.1009G>T (p.Asp337Tyr)
n.2434G>T
10g.71687657A>CCA377133172CDH23c.1997A>C (p.Asp666Ala)
c.1428A>C
c.2012A>C (p.Asp671Ala)
c.772A>C
c.2192A>C (p.Asp731Ala)
c.2126A>C (p.Asp709Ala)
c.2186A>C (p.Asp729Ala)
c.2132A>C (p.Asp711Ala)
c.2057A>C (p.Asp686Ala)
c.1652A>C (p.Asp551Ala)
c.1010A>C (p.Asp337Ala)
n.2435A>C
10g.71687657A>GCA377133171CDH23c.1997A>G (p.Asp666Gly)
c.1428A>G
c.2012A>G (p.Asp671Gly)
c.772A>G
c.2192A>G (p.Asp731Gly)
c.2126A>G (p.Asp709Gly)
c.2186A>G (p.Asp729Gly)
c.2132A>G (p.Asp711Gly)
c.2057A>G (p.Asp686Gly)
c.1652A>G (p.Asp551Gly)
c.1010A>G (p.Asp337Gly)
n.2435A>G
10g.71687657A>TCA377133169CDH23c.1997A>T (p.Asp666Val)
c.1428A>T
c.2012A>T (p.Asp671Val)
c.772A>T
c.2192A>T (p.Asp731Val)
c.2126A>T (p.Asp709Val)
c.2186A>T (p.Asp729Val)
c.2132A>T (p.Asp711Val)
c.2057A>T (p.Asp686Val)
c.1652A>T (p.Asp551Val)
c.1010A>T (p.Asp337Val)
n.2435A>T
10g.71687658C>ACA377133174CDH23c.1998C>A (p.Asp666Glu)
c.1429C>A
c.2013C>A (p.Asp671Glu)
c.773C>A
c.2193C>A (p.Asp731Glu)
c.2127C>A (p.Asp709Glu)
c.2187C>A (p.Asp729Glu)
c.2133C>A (p.Asp711Glu)
c.2058C>A (p.Asp686Glu)
c.1653C>A (p.Asp551Glu)
c.1011C>A (p.Asp337Glu)
n.2436C>A
10g.71687658C>GCA377133176CDH23c.1998C>G (p.Asp666Glu)
c.1429C>G
c.2013C>G (p.Asp671Glu)
c.773C>G
c.2193C>G (p.Asp731Glu)
c.2127C>G (p.Asp709Glu)
c.2187C>G (p.Asp729Glu)
c.2133C>G (p.Asp711Glu)
c.2058C>G (p.Asp686Glu)
c.1653C>G (p.Asp551Glu)
c.1011C>G (p.Asp337Glu)
n.2436C>G
10g.71687658C>TCA470059705CDH23c.1998C>T (p.Asp666=)
c.1429C>T
c.2013C>T (p.Asp671=)
c.773C>T
c.2193C>T (p.Asp731=)
c.2127C>T (p.Asp709=)
c.2187C>T (p.Asp729=)
c.2133C>T (p.Asp711=)
c.2058C>T (p.Asp686=)
c.1653C>T (p.Asp551=)
c.1011C>T (p.Asp337=)
n.2436C>T
 ClinVar dbSNP
10g.71687659A>CCA377133178CDH23c.1999A>C (p.Asn667His)
c.1430A>C
c.2014A>C (p.Asn672His)
c.774A>C
c.2194A>C (p.Asn732His)
c.2128A>C (p.Asn710His)
c.2188A>C (p.Asn730His)
c.2134A>C (p.Asn712His)
c.2059A>C (p.Asn687His)
c.1654A>C (p.Asn552His)
c.1012A>C (p.Asn338His)
n.2437A>C
10g.71687659A>GCA377133180CDH23c.1999A>G (p.Asn667Asp)
c.1430A>G
c.2014A>G (p.Asn672Asp)
c.774A>G
c.2194A>G (p.Asn732Asp)
c.2128A>G (p.Asn710Asp)
c.2188A>G (p.Asn730Asp)
c.2134A>G (p.Asn712Asp)
c.2059A>G (p.Asn687Asp)
c.1654A>G (p.Asn552Asp)
c.1012A>G (p.Asn338Asp)
n.2437A>G
10g.71687659A>TCA377133182CDH23c.1999A>T (p.Asn667Tyr)
c.1430A>T
c.2014A>T (p.Asn672Tyr)
c.774A>T
c.2194A>T (p.Asn732Tyr)
c.2128A>T (p.Asn710Tyr)
c.2188A>T (p.Asn730Tyr)
c.2134A>T (p.Asn712Tyr)
c.2059A>T (p.Asn687Tyr)
c.1654A>T (p.Asn552Tyr)
c.1012A>T (p.Asn338Tyr)
n.2437A>T
10g.71687660A=CA1918826400CDH23c.2000A= (p.Asn667=)
c.1431A=
c.2015A= (p.Asn672=)
c.775A=
c.2195A= (p.Asn732=)
c.2129A= (p.Asn710=)
c.2189A= (p.Asn730=)
c.2135A= (p.Asn712=)
c.2060A= (p.Asn687=)
c.1655A= (p.Asn552=)
c.1013A= (p.Asn338=)
n.2438A=
10g.71687660A>CCA377133184CDH23c.2000A>C (p.Asn667Thr)
c.1431A>C
c.2015A>C (p.Asn672Thr)
c.775A>C
c.2195A>C (p.Asn732Thr)
c.2129A>C (p.Asn710Thr)
c.2189A>C (p.Asn730Thr)
c.2135A>C (p.Asn712Thr)
c.2060A>C (p.Asn687Thr)
c.1655A>C (p.Asn552Thr)
c.1013A>C (p.Asn338Thr)
n.2438A>C
 dbSNP gnomAD v3 gnomAD v4
10g.71687660A>GCA377133186CDH23c.2000A>G (p.Asn667Ser)
c.1431A>G
c.2015A>G (p.Asn672Ser)
c.775A>G
c.2195A>G (p.Asn732Ser)
c.2129A>G (p.Asn710Ser)
c.2189A>G (p.Asn730Ser)
c.2135A>G (p.Asn712Ser)
c.2060A>G (p.Asn687Ser)
c.1655A>G (p.Asn552Ser)
c.1013A>G (p.Asn338Ser)
n.2438A>G
10g.71687660A>TCA377133188CDH23c.2000A>T (p.Asn667Ile)
c.1431A>T
c.2015A>T (p.Asn672Ile)
c.775A>T
c.2195A>T (p.Asn732Ile)
c.2129A>T (p.Asn710Ile)
c.2189A>T (p.Asn730Ile)
c.2135A>T (p.Asn712Ile)
c.2060A>T (p.Asn687Ile)
c.1655A>T (p.Asn552Ile)
c.1013A>T (p.Asn338Ile)
n.2438A>T
10g.71687661C>ACA377133190CDH23c.2001C>A (p.Asn667Lys)
c.1432C>A
c.2016C>A (p.Asn672Lys)
c.776C>A
c.2196C>A (p.Asn732Lys)
c.2130C>A (p.Asn710Lys)
c.2190C>A (p.Asn730Lys)
c.2136C>A (p.Asn712Lys)
c.2061C>A (p.Asn687Lys)
c.1656C>A (p.Asn552Lys)
c.1014C>A (p.Asn338Lys)
n.2439C>A
10g.71687661C=CA1918826401CDH23c.2001C= (p.Asn667=)
c.1432C=
c.2016C= (p.Asn672=)
c.776C=
c.2196C= (p.Asn732=)
c.2130C= (p.Asn710=)
c.2190C= (p.Asn730=)
c.2136C= (p.Asn712=)
c.2061C= (p.Asn687=)
c.1656C= (p.Asn552=)
c.1014C= (p.Asn338=)
n.2439C=
10g.71687661C>GCA377133191CDH23c.2001C>G (p.Asn667Lys)
c.1432C>G
c.2016C>G (p.Asn672Lys)
c.776C>G
c.2196C>G (p.Asn732Lys)
c.2130C>G (p.Asn710Lys)
c.2190C>G (p.Asn730Lys)
c.2136C>G (p.Asn712Lys)
c.2061C>G (p.Asn687Lys)
c.1656C>G (p.Asn552Lys)
c.1014C>G (p.Asn338Lys)
n.2439C>G
10g.71687661C>TCA5544046CDH23c.2001C>T (p.Asn667=)
c.1432C>T
c.2016C>T (p.Asn672=)
c.776C>T
c.2196C>T (p.Asn732=)
c.2130C>T (p.Asn710=)
c.2190C>T (p.Asn730=)
c.2136C>T (p.Asn712=)
c.2061C>T (p.Asn687=)
c.1656C>T (p.Asn552=)
c.1014C>T (p.Asn338=)
n.2439C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687662C>ACA377133195CDH23c.2002C>A (p.Pro668Thr)
c.1433C>A
c.2017C>A (p.Pro673Thr)
c.777C>A
c.2197C>A (p.Pro733Thr)
c.2131C>A (p.Pro711Thr)
c.2191C>A (p.Pro731Thr)
c.2137C>A (p.Pro713Thr)
c.2062C>A (p.Pro688Thr)
c.1657C>A (p.Pro553Thr)
c.1015C>A (p.Pro339Thr)
n.2440C>A
10g.71687662C>GCA377133196CDH23c.2002C>G (p.Pro668Ala)
c.1433C>G
c.2017C>G (p.Pro673Ala)
c.777C>G
c.2197C>G (p.Pro733Ala)
c.2131C>G (p.Pro711Ala)
c.2191C>G (p.Pro731Ala)
c.2137C>G (p.Pro713Ala)
c.2062C>G (p.Pro688Ala)
c.1657C>G (p.Pro553Ala)
c.1015C>G (p.Pro339Ala)
n.2440C>G
10g.71687662C>TCA377133198CDH23c.2002C>T (p.Pro668Ser)
c.1433C>T
c.2017C>T (p.Pro673Ser)
c.777C>T
c.2197C>T (p.Pro733Ser)
c.2131C>T (p.Pro711Ser)
c.2191C>T (p.Pro731Ser)
c.2137C>T (p.Pro713Ser)
c.2062C>T (p.Pro688Ser)
c.1657C>T (p.Pro553Ser)
c.1015C>T (p.Pro339Ser)
n.2440C>T
10g.71687663C>ACA5544047CDH23c.2003C>A (p.Pro668His)
c.1434C>A
c.2018C>A (p.Pro673His)
c.778C>A
c.2198C>A (p.Pro733His)
c.2132C>A (p.Pro711His)
c.2192C>A (p.Pro731His)
c.2138C>A (p.Pro713His)
c.2063C>A (p.Pro688His)
c.1658C>A (p.Pro553His)
c.1016C>A (p.Pro339His)
n.2441C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687663C=CA1918826402CDH23c.2003C= (p.Pro668=)
c.1434C=
c.2018C= (p.Pro673=)
c.778C=
c.2198C= (p.Pro733=)
c.2132C= (p.Pro711=)
c.2192C= (p.Pro731=)
c.2138C= (p.Pro713=)
c.2063C= (p.Pro688=)
c.1658C= (p.Pro553=)
c.1016C= (p.Pro339=)
n.2441C=
10g.71687663C>GCA377133202CDH23c.2003C>G (p.Pro668Arg)
c.1434C>G
c.2018C>G (p.Pro673Arg)
c.778C>G
c.2198C>G (p.Pro733Arg)
c.2132C>G (p.Pro711Arg)
c.2192C>G (p.Pro731Arg)
c.2138C>G (p.Pro713Arg)
c.2063C>G (p.Pro688Arg)
c.1658C>G (p.Pro553Arg)
c.1016C>G (p.Pro339Arg)
n.2441C>G
10g.71687663C>TCA377133200CDH23c.2003C>T (p.Pro668Leu)
c.1434C>T
c.2018C>T (p.Pro673Leu)
c.778C>T
c.2198C>T (p.Pro733Leu)
c.2132C>T (p.Pro711Leu)
c.2192C>T (p.Pro731Leu)
c.2138C>T (p.Pro713Leu)
c.2063C>T (p.Pro688Leu)
c.1658C>T (p.Pro553Leu)
c.1016C>T (p.Pro339Leu)
n.2441C>T
 dbSNP gnomAD v4
10g.71687664T>ACA470059714CDH23c.2004T>A (p.Pro668=)
c.1435T>A
c.2019T>A (p.Pro673=)
c.779T>A
c.2199T>A (p.Pro733=)
c.2133T>A (p.Pro711=)
c.2193T>A (p.Pro731=)
c.2139T>A (p.Pro713=)
c.2064T>A (p.Pro688=)
c.1659T>A (p.Pro553=)
c.1017T>A (p.Pro339=)
n.2442T>A
10g.71687664T>CCA470059715CDH23c.2004T>C (p.Pro668=)
c.1435T>C
c.2019T>C (p.Pro673=)
c.779T>C
c.2199T>C (p.Pro733=)
c.2133T>C (p.Pro711=)
c.2193T>C (p.Pro731=)
c.2139T>C (p.Pro713=)
c.2064T>C (p.Pro688=)
c.1659T>C (p.Pro553=)
c.1017T>C (p.Pro339=)
n.2442T>C
10g.71687664T>GCA470059716CDH23c.2004T>G (p.Pro668=)
c.1435T>G
c.2019T>G (p.Pro673=)
c.779T>G
c.2199T>G (p.Pro733=)
c.2133T>G (p.Pro711=)
c.2193T>G (p.Pro731=)
c.2139T>G (p.Pro713=)
c.2064T>G (p.Pro688=)
c.1659T>G (p.Pro553=)
c.1017T>G (p.Pro339=)
n.2442T>G
10g.71687665C>ACA377133205CDH23c.2005C>A (p.Pro669Thr)
c.1436C>A
c.2020C>A (p.Pro674Thr)
c.780C>A
c.2200C>A (p.Pro734Thr)
c.2134C>A (p.Pro712Thr)
c.2194C>A (p.Pro732Thr)
c.2140C>A (p.Pro714Thr)
c.2065C>A (p.Pro689Thr)
c.1660C>A (p.Pro554Thr)
c.1018C>A (p.Pro340Thr)
n.2443C>A
10g.71687665C=CA1918826403CDH23c.2005C= (p.Pro669=)
c.1436C=
c.2020C= (p.Pro674=)
c.780C=
c.2200C= (p.Pro734=)
c.2134C= (p.Pro712=)
c.2194C= (p.Pro732=)
c.2140C= (p.Pro714=)
c.2065C= (p.Pro689=)
c.1660C= (p.Pro554=)
c.1018C= (p.Pro340=)
n.2443C=
10g.71687665C>GCA377133207CDH23c.2005C>G (p.Pro669Ala)
c.1436C>G
c.2020C>G (p.Pro674Ala)
c.780C>G
c.2200C>G (p.Pro734Ala)
c.2134C>G (p.Pro712Ala)
c.2194C>G (p.Pro732Ala)
c.2140C>G (p.Pro714Ala)
c.2065C>G (p.Pro689Ala)
c.1660C>G (p.Pro554Ala)
c.1018C>G (p.Pro340Ala)
n.2443C>G
 gnomAD v4
10g.71687665C>TCA377133209CDH23c.2005C>T (p.Pro669Ser)
c.1436C>T
c.2020C>T (p.Pro674Ser)
c.780C>T
c.2200C>T (p.Pro734Ser)
c.2134C>T (p.Pro712Ser)
c.2194C>T (p.Pro732Ser)
c.2140C>T (p.Pro714Ser)
c.2065C>T (p.Pro689Ser)
c.1660C>T (p.Pro554Ser)
c.1018C>T (p.Pro340Ser)
n.2443C>T
 dbSNP
10g.71687666C>ACA377133211CDH23c.2006C>A (p.Pro669His)
c.1437C>A
c.2021C>A (p.Pro674His)
c.781C>A
c.2201C>A (p.Pro734His)
c.2135C>A (p.Pro712His)
c.2195C>A (p.Pro732His)
c.2141C>A (p.Pro714His)
c.2066C>A (p.Pro689His)
c.1661C>A (p.Pro554His)
c.1019C>A (p.Pro340His)
n.2444C>A
10g.71687666C>GCA377133213CDH23c.2006C>G (p.Pro669Arg)
c.1437C>G
c.2021C>G (p.Pro674Arg)
c.781C>G
c.2201C>G (p.Pro734Arg)
c.2135C>G (p.Pro712Arg)
c.2195C>G (p.Pro732Arg)
c.2141C>G (p.Pro714Arg)
c.2066C>G (p.Pro689Arg)
c.1661C>G (p.Pro554Arg)
c.1019C>G (p.Pro340Arg)
n.2444C>G
10g.71687666C>TCA377133215CDH23c.2006C>T (p.Pro669Leu)
c.1437C>T
c.2021C>T (p.Pro674Leu)
c.781C>T
c.2201C>T (p.Pro734Leu)
c.2135C>T (p.Pro712Leu)
c.2195C>T (p.Pro732Leu)
c.2141C>T (p.Pro714Leu)
c.2066C>T (p.Pro689Leu)
c.1661C>T (p.Pro554Leu)
c.1019C>T (p.Pro340Leu)
n.2444C>T
10g.71687667C>ACA470059723CDH23c.2007C>A (p.Pro669=)
c.1438C>A
c.2022C>A (p.Pro674=)
c.782C>A
c.2202C>A (p.Pro734=)
c.2136C>A (p.Pro712=)
c.2196C>A (p.Pro732=)
c.2142C>A (p.Pro714=)
c.2067C>A (p.Pro689=)
c.1662C>A (p.Pro554=)
c.1020C>A (p.Pro340=)
n.2445C>A
10g.71687667C=CA1918826404CDH23c.2007C= (p.Pro669=)
c.1438C=
c.2022C= (p.Pro674=)
c.782C=
c.2202C= (p.Pro734=)
c.2136C= (p.Pro712=)
c.2196C= (p.Pro732=)
c.2142C= (p.Pro714=)
c.2067C= (p.Pro689=)
c.1662C= (p.Pro554=)
c.1020C= (p.Pro340=)
n.2445C=
10g.71687667C>GCA209436064CDH23c.2007C>G (p.Pro669=)
c.1438C>G
c.2022C>G (p.Pro674=)
c.782C>G
c.2202C>G (p.Pro734=)
c.2136C>G (p.Pro712=)
c.2196C>G (p.Pro732=)
c.2142C>G (p.Pro714=)
c.2067C>G (p.Pro689=)
c.1662C>G (p.Pro554=)
c.1020C>G (p.Pro340=)
n.2445C>G
 dbSNP
10g.71687667C>TCA470059724CDH23c.2007C>T (p.Pro669=)
c.1438C>T
c.2022C>T (p.Pro674=)
c.782C>T
c.2202C>T (p.Pro734=)
c.2136C>T (p.Pro712=)
c.2196C>T (p.Pro732=)
c.2142C>T (p.Pro714=)
c.2067C>T (p.Pro689=)
c.1662C>T (p.Pro554=)
c.1020C>T (p.Pro340=)
n.2445C>T
 COSMIC COSMIC COSMIC
10g.71687668A=CA1918826405CDH23c.2008A= (p.Thr670=)
c.1439A=
c.2023A= (p.Thr675=)
c.783A=
c.2203A= (p.Thr735=)
c.2137A= (p.Thr713=)
c.2197A= (p.Thr733=)
c.2143A= (p.Thr715=)
c.2068A= (p.Thr690=)
c.1663A= (p.Thr555=)
c.1021A= (p.Thr341=)
n.2446A=
10g.71687668A>CCA377133219CDH23c.2008A>C (p.Thr670Pro)
c.1439A>C
c.2023A>C (p.Thr675Pro)
c.783A>C
c.2203A>C (p.Thr735Pro)
c.2137A>C (p.Thr713Pro)
c.2197A>C (p.Thr733Pro)
c.2143A>C (p.Thr715Pro)
c.2068A>C (p.Thr690Pro)
c.1663A>C (p.Thr555Pro)
c.1021A>C (p.Thr341Pro)
n.2446A>C
 dbSNP gnomAD v4
10g.71687668A>GCA377133218CDH23c.2008A>G (p.Thr670Ala)
c.1439A>G
c.2023A>G (p.Thr675Ala)
c.783A>G
c.2203A>G (p.Thr735Ala)
c.2137A>G (p.Thr713Ala)
c.2197A>G (p.Thr733Ala)
c.2143A>G (p.Thr715Ala)
c.2068A>G (p.Thr690Ala)
c.1663A>G (p.Thr555Ala)
c.1021A>G (p.Thr341Ala)
n.2446A>G
10g.71687668A>TCA377133216CDH23c.2008A>T (p.Thr670Ser)
c.1439A>T
c.2023A>T (p.Thr675Ser)
c.783A>T
c.2203A>T (p.Thr735Ser)
c.2137A>T (p.Thr713Ser)
c.2197A>T (p.Thr733Ser)
c.2143A>T (p.Thr715Ser)
c.2068A>T (p.Thr690Ser)
c.1663A>T (p.Thr555Ser)
c.1021A>T (p.Thr341Ser)
n.2446A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71687668dupCA2695212160CDH23c.2008dup (p.Thr670AsnfsTer?)
c.1439dup
c.2023dup (p.Thr675AsnfsTer?)
c.783dup
c.2203dup (p.Thr735AsnfsTer?)
c.2137dup (p.Thr713AsnfsTer?)
c.2197dup (p.Thr733AsnfsTer?)
c.2143dup (p.Thr715AsnfsTer?)
c.2068dup (p.Thr690AsnfsTer?)
c.1663dup (p.Thr555AsnfsTer?)
c.1021dup (p.Thr341AsnfsTer?)
n.2446dup
10g.71687669C>ACA5544048CDH23c.2009C>A (p.Thr670Asn)
c.1440C>A
c.2024C>A (p.Thr675Asn)
c.784C>A
c.2204C>A (p.Thr735Asn)
c.2138C>A (p.Thr713Asn)
c.2198C>A (p.Thr733Asn)
c.2144C>A (p.Thr715Asn)
c.2069C>A (p.Thr690Asn)
c.1664C>A (p.Thr555Asn)
c.1022C>A (p.Thr341Asn)
n.2447C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687669C=CA1918826406CDH23c.2009C= (p.Thr670=)
c.1440C=
c.2024C= (p.Thr675=)
c.784C=
c.2204C= (p.Thr735=)
c.2138C= (p.Thr713=)
c.2198C= (p.Thr733=)
c.2144C= (p.Thr715=)
c.2069C= (p.Thr690=)
c.1664C= (p.Thr555=)
c.1022C= (p.Thr341=)
n.2447C=
10g.71687669C>GCA377133221CDH23c.2009C>G (p.Thr670Ser)
c.1440C>G
c.2024C>G (p.Thr675Ser)
c.784C>G
c.2204C>G (p.Thr735Ser)
c.2138C>G (p.Thr713Ser)
c.2198C>G (p.Thr733Ser)
c.2144C>G (p.Thr715Ser)
c.2069C>G (p.Thr690Ser)
c.1664C>G (p.Thr555Ser)
c.1022C>G (p.Thr341Ser)
n.2447C>G
10g.71687669C>TCA377133222CDH23c.2009C>T (p.Thr670Ile)
c.1440C>T
c.2024C>T (p.Thr675Ile)
c.784C>T
c.2204C>T (p.Thr735Ile)
c.2138C>T (p.Thr713Ile)
c.2198C>T (p.Thr733Ile)
c.2144C>T (p.Thr715Ile)
c.2069C>T (p.Thr690Ile)
c.1664C>T (p.Thr555Ile)
c.1022C>T (p.Thr341Ile)
n.2447C>T
 dbSNP gnomAD v4
10g.71687670C>ACA470059728CDH23c.2010C>A (p.Thr670=)
c.1441C>A
c.2025C>A (p.Thr675=)
c.785C>A
c.2205C>A (p.Thr735=)
c.2139C>A (p.Thr713=)
c.2199C>A (p.Thr733=)
c.2145C>A (p.Thr715=)
c.2070C>A (p.Thr690=)
c.1665C>A (p.Thr555=)
c.1023C>A (p.Thr341=)
n.2448C>A
10g.71687670C>GCA470059729CDH23c.2010C>G (p.Thr670=)
c.1441C>G
c.2025C>G (p.Thr675=)
c.785C>G
c.2205C>G (p.Thr735=)
c.2139C>G (p.Thr713=)
c.2199C>G (p.Thr733=)
c.2145C>G (p.Thr715=)
c.2070C>G (p.Thr690=)
c.1665C>G (p.Thr555=)
c.1023C>G (p.Thr341=)
n.2448C>G
10g.71687670C>TCA470059731CDH23c.2010C>T (p.Thr670=)
c.1441C>T
c.2025C>T (p.Thr675=)
c.785C>T
c.2205C>T (p.Thr735=)
c.2139C>T (p.Thr713=)
c.2199C>T (p.Thr733=)
c.2145C>T (p.Thr715=)
c.2070C>T (p.Thr690=)
c.1665C>T (p.Thr555=)
c.1023C>T (p.Thr341=)
n.2448C>T
10g.71687670_71687671delinsCTCA1918826407CDH23c.2010_2011delinsCT (p.Thr670=)
c.1441_1442delinsCT
c.2025_2026delinsCT (p.Thr675=)
c.785_786delinsCT
c.2205_2206delinsCT (p.Thr735=)
c.2139_2140delinsCT (p.Thr713=)
c.2199_2200delinsCT (p.Thr733=)
c.2145_2146delinsCT (p.Thr715=)
c.2070_2071delinsCT (p.Thr690=)
c.1665_1666delinsCT (p.Thr555=)
c.1023_1024delinsCT (p.Thr341=)
n.2448_2449delinsCT
10g.71687671T>ACA377133223CDH23c.2011T>A (p.Phe671Ile)
c.1442T>A
c.2026T>A (p.Phe676Ile)
c.786T>A
c.2206T>A (p.Phe736Ile)
c.2140T>A (p.Phe714Ile)
c.2200T>A (p.Phe734Ile)
c.2146T>A (p.Phe716Ile)
c.2071T>A (p.Phe691Ile)
c.1666T>A (p.Phe556Ile)
c.1024T>A (p.Phe342Ile)
n.2449T>A
10g.71687671T>CCA377133224CDH23c.2011T>C (p.Phe671Leu)
c.1442T>C
c.2026T>C (p.Phe676Leu)
c.786T>C
c.2206T>C (p.Phe736Leu)
c.2140T>C (p.Phe714Leu)
c.2200T>C (p.Phe734Leu)
c.2146T>C (p.Phe716Leu)
c.2071T>C (p.Phe691Leu)
c.1666T>C (p.Phe556Leu)
c.1024T>C (p.Phe342Leu)
n.2449T>C
10g.71687671T>GCA377133225CDH23c.2011T>G (p.Phe671Val)
c.1442T>G
c.2026T>G (p.Phe676Val)
c.786T>G
c.2206T>G (p.Phe736Val)
c.2140T>G (p.Phe714Val)
c.2200T>G (p.Phe734Val)
c.2146T>G (p.Phe716Val)
c.2071T>G (p.Phe691Val)
c.1666T>G (p.Phe556Val)
c.1024T>G (p.Phe342Val)
n.2449T>G
10g.71687672delCA261775CDH23c.2012del (p.Phe671SerfsTer23)
c.1443del
c.2027del (p.Phe676SerfsTer23)
c.787del
c.2207del (p.Phe736SerfsTer23)
c.2141del (p.Phe714SerfsTer23)
c.2201del (p.Phe734SerfsTer23)
c.2147del (p.Phe716SerfsTer23)
c.2072del (p.Phe691SerfsTer23)
c.1667del (p.Phe556SerfsTer23)
c.1025del (p.Phe342SerfsTer23)
n.2450del
 ClinVar dbSNP
10g.71687672T>ACA377133228CDH23c.2012T>A (p.Phe671Tyr)
c.1443T>A
c.2027T>A (p.Phe676Tyr)
c.787T>A
c.2207T>A (p.Phe736Tyr)
c.2141T>A (p.Phe714Tyr)
c.2201T>A (p.Phe734Tyr)
c.2147T>A (p.Phe716Tyr)
c.2072T>A (p.Phe691Tyr)
c.1667T>A (p.Phe556Tyr)
c.1025T>A (p.Phe342Tyr)
n.2450T>A
10g.71687672T>CCA377133232CDH23c.2012T>C (p.Phe671Ser)
c.1443T>C
c.2027T>C (p.Phe676Ser)
c.787T>C
c.2207T>C (p.Phe736Ser)
c.2141T>C (p.Phe714Ser)
c.2201T>C (p.Phe734Ser)
c.2147T>C (p.Phe716Ser)
c.2072T>C (p.Phe691Ser)
c.1667T>C (p.Phe556Ser)
c.1025T>C (p.Phe342Ser)
n.2450T>C
10g.71687672T>GCA377133230CDH23c.2012T>G (p.Phe671Cys)
c.1443T>G
c.2027T>G (p.Phe676Cys)
c.787T>G
c.2207T>G (p.Phe736Cys)
c.2141T>G (p.Phe714Cys)
c.2201T>G (p.Phe734Cys)
c.2147T>G (p.Phe716Cys)
c.2072T>G (p.Phe691Cys)
c.1667T>G (p.Phe556Cys)
c.1025T>G (p.Phe342Cys)
n.2450T>G
10g.71687673C>ACA377133234CDH23c.2013C>A (p.Phe671Leu)
c.1444C>A
c.2028C>A (p.Phe676Leu)
c.788C>A
c.2208C>A (p.Phe736Leu)
c.2142C>A (p.Phe714Leu)
c.2202C>A (p.Phe734Leu)
c.2148C>A (p.Phe716Leu)
c.2073C>A (p.Phe691Leu)
c.1668C>A (p.Phe556Leu)
c.1026C>A (p.Phe342Leu)
n.2451C>A
10g.71687673C>GCA377133236CDH23c.2013C>G (p.Phe671Leu)
c.1444C>G
c.2028C>G (p.Phe676Leu)
c.788C>G
c.2208C>G (p.Phe736Leu)
c.2142C>G (p.Phe714Leu)
c.2202C>G (p.Phe734Leu)
c.2148C>G (p.Phe716Leu)
c.2073C>G (p.Phe691Leu)
c.1668C>G (p.Phe556Leu)
c.1026C>G (p.Phe342Leu)
n.2451C>G
10g.71687673C>TCA470059737CDH23c.2013C>T (p.Phe671=)
c.1444C>T
c.2028C>T (p.Phe676=)
c.788C>T
c.2208C>T (p.Phe736=)
c.2142C>T (p.Phe714=)
c.2202C>T (p.Phe734=)
c.2148C>T (p.Phe716=)
c.2073C>T (p.Phe691=)
c.1668C>T (p.Phe556=)
c.1026C>T (p.Phe342=)
n.2451C>T
10g.71687674A>CCA377133239CDH23c.2014A>C (p.Ser672Arg)
c.1445A>C
c.2029A>C (p.Ser677Arg)
c.789A>C
c.2209A>C (p.Ser737Arg)
c.2143A>C (p.Ser715Arg)
c.2203A>C (p.Ser735Arg)
c.2149A>C (p.Ser717Arg)
c.2074A>C (p.Ser692Arg)
c.1669A>C (p.Ser557Arg)
c.1027A>C (p.Ser343Arg)
n.2452A>C
10g.71687674A>GCA377133241CDH23c.2014A>G (p.Ser672Gly)
c.1445A>G
c.2029A>G (p.Ser677Gly)
c.789A>G
c.2209A>G (p.Ser737Gly)
c.2143A>G (p.Ser715Gly)
c.2203A>G (p.Ser735Gly)
c.2149A>G (p.Ser717Gly)
c.2074A>G (p.Ser692Gly)
c.1669A>G (p.Ser557Gly)
c.1027A>G (p.Ser343Gly)
n.2452A>G
10g.71687674A>TCA377133242CDH23c.2014A>T (p.Ser672Cys)
c.1445A>T
c.2029A>T (p.Ser677Cys)
c.789A>T
c.2209A>T (p.Ser737Cys)
c.2143A>T (p.Ser715Cys)
c.2203A>T (p.Ser735Cys)
c.2149A>T (p.Ser717Cys)
c.2074A>T (p.Ser692Cys)
c.1669A>T (p.Ser557Cys)
c.1027A>T (p.Ser343Cys)
n.2452A>T
10g.71687675G>ACA377133245CDH23c.2015G>A (p.Ser672Asn)
c.1446G>A
c.2030G>A (p.Ser677Asn)
c.790G>A
c.2210G>A (p.Ser737Asn)
c.2144G>A (p.Ser715Asn)
c.2204G>A (p.Ser735Asn)
c.2150G>A (p.Ser717Asn)
c.2075G>A (p.Ser692Asn)
c.1670G>A (p.Ser557Asn)
c.1028G>A (p.Ser343Asn)
n.2453G>A
10g.71687675G>CCA377133248CDH23c.2015G>C (p.Ser672Thr)
c.1446G>C
c.2030G>C (p.Ser677Thr)
c.790G>C
c.2210G>C (p.Ser737Thr)
c.2144G>C (p.Ser715Thr)
c.2204G>C (p.Ser735Thr)
c.2150G>C (p.Ser717Thr)
c.2075G>C (p.Ser692Thr)
c.1670G>C (p.Ser557Thr)
c.1028G>C (p.Ser343Thr)
n.2453G>C
 dbSNP
10g.71687675G>TCA377133250CDH23c.2015G>T (p.Ser672Ile)
c.1446G>T
c.2030G>T (p.Ser677Ile)
c.790G>T
c.2210G>T (p.Ser737Ile)
c.2144G>T (p.Ser715Ile)
c.2204G>T (p.Ser735Ile)
c.2150G>T (p.Ser717Ile)
c.2075G>T (p.Ser692Ile)
c.1670G>T (p.Ser557Ile)
c.1028G>T (p.Ser343Ile)
n.2453G>T
10g.71687676C>ACA377133254CDH23c.2016C>A (p.Ser672Arg)
c.1447C>A
c.2031C>A (p.Ser677Arg)
c.791C>A
c.2211C>A (p.Ser737Arg)
c.2145C>A (p.Ser715Arg)
c.2205C>A (p.Ser735Arg)
c.2151C>A (p.Ser717Arg)
c.2076C>A (p.Ser692Arg)
c.1671C>A (p.Ser557Arg)
c.1029C>A (p.Ser343Arg)
n.2454C>A
10g.71687676C=CA1918826408CDH23c.2016C= (p.Ser672=)
c.1447C=
c.2031C= (p.Ser677=)
c.791C=
c.2211C= (p.Ser737=)
c.2145C= (p.Ser715=)
c.2205C= (p.Ser735=)
c.2151C= (p.Ser717=)
c.2076C= (p.Ser692=)
c.1671C= (p.Ser557=)
c.1029C= (p.Ser343=)
n.2454C=
10g.71687676C>GCA377133255CDH23c.2016C>G (p.Ser672Arg)
c.1447C>G
c.2031C>G (p.Ser677Arg)
c.791C>G
c.2211C>G (p.Ser737Arg)
c.2145C>G (p.Ser715Arg)
c.2205C>G (p.Ser735Arg)
c.2151C>G (p.Ser717Arg)
c.2076C>G (p.Ser692Arg)
c.1671C>G (p.Ser557Arg)
c.1029C>G (p.Ser343Arg)
n.2454C>G
 ClinVar dbSNP gnomAD v4
10g.71687676C>TCA470059741CDH23c.2016C>T (p.Ser672=)
c.1447C>T
c.2031C>T (p.Ser677=)
c.791C>T
c.2211C>T (p.Ser737=)
c.2145C>T (p.Ser715=)
c.2205C>T (p.Ser735=)
c.2151C>T (p.Ser717=)
c.2076C>T (p.Ser692=)
c.1671C>T (p.Ser557=)
c.1029C>T (p.Ser343=)
n.2454C>T
10g.71687677A>CCA377133261CDH23c.2017A>C (p.Lys673Gln)
c.1448A>C
c.2032A>C (p.Lys678Gln)
c.792A>C
c.2212A>C (p.Lys738Gln)
c.2146A>C (p.Lys716Gln)
c.2206A>C (p.Lys736Gln)
c.2152A>C (p.Lys718Gln)
c.2077A>C (p.Lys693Gln)
c.1672A>C (p.Lys558Gln)
c.1030A>C (p.Lys344Gln)
n.2455A>C
10g.71687677A>GCA377133256CDH23c.2017A>G (p.Lys673Glu)
c.1448A>G
c.2032A>G (p.Lys678Glu)
c.792A>G
c.2212A>G (p.Lys738Glu)
c.2146A>G (p.Lys716Glu)
c.2206A>G (p.Lys736Glu)
c.2152A>G (p.Lys718Glu)
c.2077A>G (p.Lys693Glu)
c.1672A>G (p.Lys558Glu)
c.1030A>G (p.Lys344Glu)
n.2455A>G
10g.71687677A>TCA377133258CDH23c.2017A>T (p.Lys673Ter)
c.1448A>T
c.2032A>T (p.Lys678Ter)
c.792A>T
c.2212A>T (p.Lys738Ter)
c.2146A>T (p.Lys716Ter)
c.2206A>T (p.Lys736Ter)
c.2152A>T (p.Lys718Ter)
c.2077A>T (p.Lys693Ter)
c.1672A>T (p.Lys558Ter)
c.1030A>T (p.Lys344Ter)
n.2455A>T
10g.71687678A>CCA377133263CDH23c.2018A>C (p.Lys673Thr)
c.1449A>C
c.2033A>C (p.Lys678Thr)
c.793A>C
c.2213A>C (p.Lys738Thr)
c.2147A>C (p.Lys716Thr)
c.2207A>C (p.Lys736Thr)
c.2153A>C (p.Lys718Thr)
c.2078A>C (p.Lys693Thr)
c.1673A>C (p.Lys558Thr)
c.1031A>C (p.Lys344Thr)
n.2456A>C
10g.71687678A>GCA377133266CDH23c.2018A>G (p.Lys673Arg)
c.1449A>G
c.2033A>G (p.Lys678Arg)
c.793A>G
c.2213A>G (p.Lys738Arg)
c.2147A>G (p.Lys716Arg)
c.2207A>G (p.Lys736Arg)
c.2153A>G (p.Lys718Arg)
c.2078A>G (p.Lys693Arg)
c.1673A>G (p.Lys558Arg)
c.1031A>G (p.Lys344Arg)
n.2456A>G
10g.71687678A>TCA377133268CDH23c.2018A>T (p.Lys673Met)
c.1449A>T
c.2033A>T (p.Lys678Met)
c.793A>T
c.2213A>T (p.Lys738Met)
c.2147A>T (p.Lys716Met)
c.2207A>T (p.Lys736Met)
c.2153A>T (p.Lys718Met)
c.2078A>T (p.Lys693Met)
c.1673A>T (p.Lys558Met)
c.1031A>T (p.Lys344Met)
n.2456A>T
10g.71687679G>ACA470059748CDH23c.2019G>A (p.Lys673=)
c.1450G>A
c.2034G>A (p.Lys678=)
c.794G>A
c.2214G>A (p.Lys738=)
c.2148G>A (p.Lys716=)
c.2208G>A (p.Lys736=)
c.2154G>A (p.Lys718=)
c.2079G>A (p.Lys693=)
c.1674G>A (p.Lys558=)
c.1032G>A (p.Lys344=)
n.2457G>A
10g.71687679G>CCA377133269CDH23c.2019G>C (p.Lys673Asn)
c.1450G>C
c.2034G>C (p.Lys678Asn)
c.794G>C
c.2214G>C (p.Lys738Asn)
c.2148G>C (p.Lys716Asn)
c.2208G>C (p.Lys736Asn)
c.2154G>C (p.Lys718Asn)
c.2079G>C (p.Lys693Asn)
c.1674G>C (p.Lys558Asn)
c.1032G>C (p.Lys344Asn)
n.2457G>C
10g.71687679G>TCA377133272CDH23c.2019G>T (p.Lys673Asn)
c.1450G>T
c.2034G>T (p.Lys678Asn)
c.794G>T
c.2214G>T (p.Lys738Asn)
c.2148G>T (p.Lys716Asn)
c.2208G>T (p.Lys736Asn)
c.2154G>T (p.Lys718Asn)
c.2079G>T (p.Lys693Asn)
c.1674G>T (p.Lys558Asn)
c.1032G>T (p.Lys344Asn)
n.2457G>T
 gnomAD v4
10g.71687682_71687685delCA2609541949CDH23c.2022_2025del (p.Ala675ThrfsTer18)
c.1453_1456del
c.2037_2040del (p.Ala680ThrfsTer18)
c.797_800del
c.2217_2220del (p.Ala740ThrfsTer18)
c.2151_2154del (p.Ala718ThrfsTer18)
c.2211_2214del (p.Ala738ThrfsTer18)
c.2157_2160del (p.Ala720ThrfsTer18)
c.2082_2085del (p.Ala695ThrfsTer18)
c.1677_1680del (p.Ala560ThrfsTer18)
c.1035_1038del (p.Ala346ThrfsTer18)
n.2460_2463del
 gnomAD v4
10g.71687680C>ACA377133273CDH23c.2020C>A (p.Pro674Thr)
c.1451C>A
c.2035C>A (p.Pro679Thr)
c.795C>A
c.2215C>A (p.Pro739Thr)
c.2149C>A (p.Pro717Thr)
c.2209C>A (p.Pro737Thr)
c.2155C>A (p.Pro719Thr)
c.2080C>A (p.Pro694Thr)
c.1675C>A (p.Pro559Thr)
c.1033C>A (p.Pro345Thr)
n.2458C>A
10g.71687680C>GCA377133275CDH23c.2020C>G (p.Pro674Ala)
c.1451C>G
c.2035C>G (p.Pro679Ala)
c.795C>G
c.2215C>G (p.Pro739Ala)
c.2149C>G (p.Pro717Ala)
c.2209C>G (p.Pro737Ala)
c.2155C>G (p.Pro719Ala)
c.2080C>G (p.Pro694Ala)
c.1675C>G (p.Pro559Ala)
c.1033C>G (p.Pro345Ala)
n.2458C>G
10g.71687680C>TCA377133279CDH23c.2020C>T (p.Pro674Ser)
c.1451C>T
c.2035C>T (p.Pro679Ser)
c.795C>T
c.2215C>T (p.Pro739Ser)
c.2149C>T (p.Pro717Ser)
c.2209C>T (p.Pro737Ser)
c.2155C>T (p.Pro719Ser)
c.2080C>T (p.Pro694Ser)
c.1675C>T (p.Pro559Ser)
c.1033C>T (p.Pro345Ser)
n.2458C>T
10g.71687681C>ACA377133283CDH23c.2021C>A (p.Pro674His)
c.1452C>A
c.2036C>A (p.Pro679His)
c.796C>A
c.2216C>A (p.Pro739His)
c.2150C>A (p.Pro717His)
c.2210C>A (p.Pro737His)
c.2156C>A (p.Pro719His)
c.2081C>A (p.Pro694His)
c.1676C>A (p.Pro559His)
c.1034C>A (p.Pro345His)
n.2459C>A
 gnomAD v4
10g.71687681C>GCA377133291CDH23c.2021C>G (p.Pro674Arg)
c.1452C>G
c.2036C>G (p.Pro679Arg)
c.796C>G
c.2216C>G (p.Pro739Arg)
c.2150C>G (p.Pro717Arg)
c.2210C>G (p.Pro737Arg)
c.2156C>G (p.Pro719Arg)
c.2081C>G (p.Pro694Arg)
c.1676C>G (p.Pro559Arg)
c.1034C>G (p.Pro345Arg)
n.2459C>G
10g.71687681C>TCA377133286CDH23c.2021C>T (p.Pro674Leu)
c.1452C>T
c.2036C>T (p.Pro679Leu)
c.796C>T
c.2216C>T (p.Pro739Leu)
c.2150C>T (p.Pro717Leu)
c.2210C>T (p.Pro737Leu)
c.2156C>T (p.Pro719Leu)
c.2081C>T (p.Pro694Leu)
c.1676C>T (p.Pro559Leu)
c.1034C>T (p.Pro345Leu)
n.2459C>T
 gnomAD v4 COSMIC COSMIC COSMIC
10g.71687682C>ACA470059754CDH23c.2022C>A (p.Pro674=)
c.1453C>A
c.2037C>A (p.Pro679=)
c.797C>A
c.2217C>A (p.Pro739=)
c.2151C>A (p.Pro717=)
c.2211C>A (p.Pro737=)
c.2157C>A (p.Pro719=)
c.2082C>A (p.Pro694=)
c.1677C>A (p.Pro559=)
c.1035C>A (p.Pro345=)
n.2460C>A
 gnomAD v4
10g.71687682C=CA1918826409CDH23c.2022C= (p.Pro674=)
c.1453C=
c.2037C= (p.Pro679=)
c.797C=
c.2217C= (p.Pro739=)
c.2151C= (p.Pro717=)
c.2211C= (p.Pro737=)
c.2157C= (p.Pro719=)
c.2082C= (p.Pro694=)
c.1677C= (p.Pro559=)
c.1035C= (p.Pro345=)
n.2460C=
10g.71687682C>GCA470059755CDH23c.2022C>G (p.Pro674=)
c.1453C>G
c.2037C>G (p.Pro679=)
c.797C>G
c.2217C>G (p.Pro739=)
c.2151C>G (p.Pro717=)
c.2211C>G (p.Pro737=)
c.2157C>G (p.Pro719=)
c.2082C>G (p.Pro694=)
c.1677C>G (p.Pro559=)
c.1035C>G (p.Pro345=)
n.2460C>G
10g.71687682C>TCA5544049CDH23c.2022C>T (p.Pro674=)
c.1453C>T
c.2037C>T (p.Pro679=)
c.797C>T
c.2217C>T (p.Pro739=)
c.2151C>T (p.Pro717=)
c.2211C>T (p.Pro737=)
c.2157C>T (p.Pro719=)
c.2082C>T (p.Pro694=)
c.1677C>T (p.Pro559=)
c.1035C>T (p.Pro345=)
n.2460C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687683G>ACA5544050CDH23c.2023G>A (p.Ala675Thr)
c.1454G>A
c.2038G>A (p.Ala680Thr)
c.798G>A
c.2218G>A (p.Ala740Thr)
c.2152G>A (p.Ala718Thr)
c.2212G>A (p.Ala738Thr)
c.2158G>A (p.Ala720Thr)
c.2083G>A (p.Ala695Thr)
c.1678G>A (p.Ala560Thr)
c.1036G>A (p.Ala346Thr)
n.2461G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71687683G>CCA377133306CDH23c.2023G>C (p.Ala675Pro)
c.1454G>C
c.2038G>C (p.Ala680Pro)
c.798G>C
c.2218G>C (p.Ala740Pro)
c.2152G>C (p.Ala718Pro)
c.2212G>C (p.Ala738Pro)
c.2158G>C (p.Ala720Pro)
c.2083G>C (p.Ala695Pro)
c.1678G>C (p.Ala560Pro)
c.1036G>C (p.Ala346Pro)
n.2461G>C
 dbSNP
10g.71687683G=CA1918826410CDH23c.2023G= (p.Ala675=)
c.1454G=
c.2038G= (p.Ala680=)
c.798G=
c.2218G= (p.Ala740=)
c.2152G= (p.Ala718=)
c.2212G= (p.Ala738=)
c.2158G= (p.Ala720=)
c.2083G= (p.Ala695=)
c.1678G= (p.Ala560=)
c.1036G= (p.Ala346=)
n.2461G=
10g.71687683G>TCA209436081CDH23c.2023G>T (p.Ala675Ser)
c.1454G>T
c.2038G>T (p.Ala680Ser)
c.798G>T
c.2218G>T (p.Ala740Ser)
c.2152G>T (p.Ala718Ser)
c.2212G>T (p.Ala738Ser)
c.2158G>T (p.Ala720Ser)
c.2083G>T (p.Ala695Ser)
c.1678G>T (p.Ala560Ser)
c.1036G>T (p.Ala346Ser)
n.2461G>T
 dbSNP gnomAD v4
10g.71687684C>ACA377133312CDH23c.2024C>A (p.Ala675Asp)
c.1455C>A
c.2039C>A (p.Ala680Asp)
c.799C>A
c.2219C>A (p.Ala740Asp)
c.2153C>A (p.Ala718Asp)
c.2213C>A (p.Ala738Asp)
c.2159C>A (p.Ala720Asp)
c.2084C>A (p.Ala695Asp)
c.1679C>A (p.Ala560Asp)
c.1037C>A (p.Ala346Asp)
n.2462C>A
10g.71687684C=CA1918826411CDH23c.2024C= (p.Ala675=)
c.1455C=
c.2039C= (p.Ala680=)
c.799C=
c.2219C= (p.Ala740=)
c.2153C= (p.Ala718=)
c.2213C= (p.Ala738=)
c.2159C= (p.Ala720=)
c.2084C= (p.Ala695=)
c.1679C= (p.Ala560=)
c.1037C= (p.Ala346=)
n.2462C=
10g.71687684C>GCA377133347CDH23c.2024C>G (p.Ala675Gly)
c.1455C>G
c.2039C>G (p.Ala680Gly)
c.799C>G
c.2219C>G (p.Ala740Gly)
c.2153C>G (p.Ala718Gly)
c.2213C>G (p.Ala738Gly)
c.2159C>G (p.Ala720Gly)
c.2084C>G (p.Ala695Gly)
c.1679C>G (p.Ala560Gly)
c.1037C>G (p.Ala346Gly)
n.2462C>G
10g.71687684C>TCA5544051CDH23c.2024C>T (p.Ala675Val)
c.1455C>T
c.2039C>T (p.Ala680Val)
c.799C>T
c.2219C>T (p.Ala740Val)
c.2153C>T (p.Ala718Val)
c.2213C>T (p.Ala738Val)
c.2159C>T (p.Ala720Val)
c.2084C>T (p.Ala695Val)
c.1679C>T (p.Ala560Val)
c.1037C>T (p.Ala346Val)
n.2462C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.71687685C>ACA470059762CDH23c.2025C>A (p.Ala675=)
c.1456C>A
c.2040C>A (p.Ala680=)
c.800C>A
c.2220C>A (p.Ala740=)
c.2154C>A (p.Ala718=)
c.2214C>A (p.Ala738=)
c.2160C>A (p.Ala720=)
c.2085C>A (p.Ala695=)
c.1680C>A (p.Ala560=)
c.1038C>A (p.Ala346=)
n.2463C>A
10g.71687685C>GCA470059761CDH23c.2025C>G (p.Ala675=)
c.1456C>G
c.2040C>G (p.Ala680=)
c.800C>G
c.2220C>G (p.Ala740=)
c.2154C>G (p.Ala718=)
c.2214C>G (p.Ala738=)
c.2160C>G (p.Ala720=)
c.2085C>G (p.Ala695=)
c.1680C>G (p.Ala560=)
c.1038C>G (p.Ala346=)
n.2463C>G
10g.71687685C>TCA470059760CDH23c.2025C>T (p.Ala675=)
c.1456C>T
c.2040C>T (p.Ala680=)
c.800C>T
c.2220C>T (p.Ala740=)
c.2154C>T (p.Ala718=)
c.2214C>T (p.Ala738=)
c.2160C>T (p.Ala720=)
c.2085C>T (p.Ala695=)
c.1680C>T (p.Ala560=)
c.1038C>T (p.Ala346=)
n.2463C>T
 ClinVar
10g.71687686T>ACA377133348CDH23c.2026T>A (p.Tyr676Asn)
c.1457T>A
c.2041T>A (p.Tyr681Asn)
c.801T>A
c.2221T>A (p.Tyr741Asn)
c.2155T>A (p.Tyr719Asn)
c.2215T>A (p.Tyr739Asn)
c.2161T>A (p.Tyr721Asn)
c.2086T>A (p.Tyr696Asn)
c.1681T>A (p.Tyr561Asn)
c.1039T>A (p.Tyr347Asn)
n.2464T>A
10g.71687686T>CCA377133352CDH23c.2026T>C (p.Tyr676His)
c.1457T>C
c.2041T>C (p.Tyr681His)
c.801T>C
c.2221T>C (p.Tyr741His)
c.2155T>C (p.Tyr719His)
c.2215T>C (p.Tyr739His)
c.2161T>C (p.Tyr721His)
c.2086T>C (p.Tyr696His)
c.1681T>C (p.Tyr561His)
c.1039T>C (p.Tyr347His)
n.2464T>C
10g.71687686T>GCA377133355CDH23c.2026T>G (p.Tyr676Asp)
c.1457T>G
c.2041T>G (p.Tyr681Asp)
c.801T>G
c.2221T>G (p.Tyr741Asp)
c.2155T>G (p.Tyr719Asp)
c.2215T>G (p.Tyr739Asp)
c.2161T>G (p.Tyr721Asp)
c.2086T>G (p.Tyr696Asp)
c.1681T>G (p.Tyr561Asp)
c.1039T>G (p.Tyr347Asp)
n.2464T>G
10g.71687687A=CA1918826412CDH23c.2027A= (p.Tyr676=)
c.1458A=
c.2042A= (p.Tyr681=)
c.802A=
c.2222A= (p.Tyr741=)
c.2156A= (p.Tyr719=)
c.2216A= (p.Tyr739=)
c.2162A= (p.Tyr721=)
c.2087A= (p.Tyr696=)
c.1682A= (p.Tyr561=)
c.1040A= (p.Tyr347=)
n.2465A=
10g.71687687A>CCA377133356CDH23c.2027A>C (p.Tyr676Ser)
c.1458A>C
c.2042A>C (p.Tyr681Ser)
c.802A>C
c.2222A>C (p.Tyr741Ser)
c.2156A>C (p.Tyr719Ser)
c.2216A>C (p.Tyr739Ser)
c.2162A>C (p.Tyr721Ser)
c.2087A>C (p.Tyr696Ser)
c.1682A>C (p.Tyr561Ser)
c.1040A>C (p.Tyr347Ser)
n.2465A>C
 dbSNP
10g.71687687A>GCA377133357CDH23c.2027A>G (p.Tyr676Cys)
c.1458A>G
c.2042A>G (p.Tyr681Cys)
c.802A>G
c.2222A>G (p.Tyr741Cys)
c.2156A>G (p.Tyr719Cys)
c.2216A>G (p.Tyr739Cys)
c.2162A>G (p.Tyr721Cys)
c.2087A>G (p.Tyr696Cys)
c.1682A>G (p.Tyr561Cys)
c.1040A>G (p.Tyr347Cys)
n.2465A>G
 gnomAD v4
10g.71687687A>TCA377133358CDH23c.2027A>T (p.Tyr676Phe)
c.1458A>T
c.2042A>T (p.Tyr681Phe)
c.802A>T
c.2222A>T (p.Tyr741Phe)
c.2156A>T (p.Tyr719Phe)
c.2216A>T (p.Tyr739Phe)
c.2162A>T (p.Tyr721Phe)
c.2087A>T (p.Tyr696Phe)
c.1682A>T (p.Tyr561Phe)
c.1040A>T (p.Tyr347Phe)
n.2465A>T
 dbSNP gnomAD v3 gnomAD v4
10g.71687688delCA2609541952CDH23c.2028del (p.Phe677SerfsTer17)
c.1459del
c.2043del (p.Phe682SerfsTer17)
c.803del
c.2223del (p.Phe742SerfsTer17)
c.2157del (p.Phe720SerfsTer17)
c.2217del (p.Phe740SerfsTer17)
c.2163del (p.Phe722SerfsTer17)
c.2088del (p.Phe697SerfsTer17)
c.1683del (p.Phe562SerfsTer17)
c.1041del (p.Phe348SerfsTer17)
n.2466del
 gnomAD v4
10g.71687688C>ACA377133359CDH23c.2028C>A (p.Tyr676Ter)
c.1459C>A
c.2043C>A (p.Tyr681Ter)
c.803C>A
c.2223C>A (p.Tyr741Ter)
c.2157C>A (p.Tyr719Ter)
c.2217C>A (p.Tyr739Ter)
c.2163C>A (p.Tyr721Ter)
c.2088C>A (p.Tyr696Ter)
c.1683C>A (p.Tyr561Ter)
c.1041C>A (p.Tyr347Ter)
n.2466C>A
10g.71687688C>GCA377133360CDH23c.2028C>G (p.Tyr676Ter)
c.1459C>G
c.2043C>G (p.Tyr681Ter)
c.803C>G
c.2223C>G (p.Tyr741Ter)
c.2157C>G (p.Tyr719Ter)
c.2217C>G (p.Tyr739Ter)
c.2163C>G (p.Tyr721Ter)
c.2088C>G (p.Tyr696Ter)
c.1683C>G (p.Tyr561Ter)
c.1041C>G (p.Tyr347Ter)
n.2466C>G
10g.71687688C>TCA470059765CDH23c.2028C>T (p.Tyr676=)
c.1459C>T
c.2043C>T (p.Tyr681=)
c.803C>T
c.2223C>T (p.Tyr741=)
c.2157C>T (p.Tyr719=)
c.2217C>T (p.Tyr739=)
c.2163C>T (p.Tyr721=)
c.2088C>T (p.Tyr696=)
c.1683C>T (p.Tyr561=)
c.1041C>T (p.Tyr347=)
n.2466C>T
 gnomAD v4
10g.71687689T>ACA377133361CDH23c.2029T>A (p.Phe677Ile)
c.1460T>A
c.2044T>A (p.Phe682Ile)
c.804T>A
c.2224T>A (p.Phe742Ile)
c.2158T>A (p.Phe720Ile)
c.2218T>A (p.Phe740Ile)
c.2164T>A (p.Phe722Ile)
c.2089T>A (p.Phe697Ile)
c.1684T>A (p.Phe562Ile)
c.1042T>A (p.Phe348Ile)
n.2467T>A
10g.71687689T>CCA377133362CDH23c.2029T>C (p.Phe677Leu)
c.1460T>C
c.2044T>C (p.Phe682Leu)
c.804T>C
c.2224T>C (p.Phe742Leu)
c.2158T>C (p.Phe720Leu)
c.2218T>C (p.Phe740Leu)
c.2164T>C (p.Phe722Leu)
c.2089T>C (p.Phe697Leu)
c.1684T>C (p.Phe562Leu)
c.1042T>C (p.Phe348Leu)
n.2467T>C
10g.71687689T>GCA377133363CDH23c.2029T>G (p.Phe677Val)
c.1460T>G
c.2044T>G (p.Phe682Val)
c.804T>G
c.2224T>G (p.Phe742Val)
c.2158T>G (p.Phe720Val)
c.2218T>G (p.Phe740Val)
c.2164T>G (p.Phe722Val)
c.2089T>G (p.Phe697Val)
c.1684T>G (p.Phe562Val)
c.1042T>G (p.Phe348Val)
n.2467T>G
 gnomAD v4
10g.71687690T>ACA377133368CDH23c.2030T>A (p.Phe677Tyr)
c.1461T>A
c.2045T>A (p.Phe682Tyr)
c.805T>A
c.2225T>A (p.Phe742Tyr)
c.2159T>A (p.Phe720Tyr)
c.2219T>A (p.Phe740Tyr)
c.2165T>A (p.Phe722Tyr)
c.2090T>A (p.Phe697Tyr)
c.1685T>A (p.Phe562Tyr)
c.1043T>A (p.Phe348Tyr)
n.2468T>A
10g.71687690T>CCA377133364CDH23c.2030T>C (p.Phe677Ser)
c.1461T>C
c.2045T>C (p.Phe682Ser)
c.805T>C
c.2225T>C (p.Phe742Ser)
c.2159T>C (p.Phe720Ser)
c.2219T>C (p.Phe740Ser)
c.2165T>C (p.Phe722Ser)
c.2090T>C (p.Phe697Ser)
c.1685T>C (p.Phe562Ser)
c.1043T>C (p.Phe348Ser)
n.2468T>C
 dbSNP gnomAD v4
10g.71687690T>GCA377133367CDH23c.2030T>G (p.Phe677Cys)
c.1461T>G
c.2045T>G (p.Phe682Cys)
c.805T>G
c.2225T>G (p.Phe742Cys)
c.2159T>G (p.Phe720Cys)
c.2219T>G (p.Phe740Cys)
c.2165T>G (p.Phe722Cys)
c.2090T>G (p.Phe697Cys)
c.1685T>G (p.Phe562Cys)
c.1043T>G (p.Phe348Cys)
n.2468T>G
10g.71687691C>ACA377133370CDH23c.2031C>A (p.Phe677Leu)
c.1462C>A
c.2046C>A (p.Phe682Leu)
c.806C>A
c.2226C>A (p.Phe742Leu)
c.2160C>A (p.Phe720Leu)
c.2220C>A (p.Phe740Leu)
c.2166C>A (p.Phe722Leu)
c.2091C>A (p.Phe697Leu)
c.1686C>A (p.Phe562Leu)
c.1044C>A (p.Phe348Leu)
n.2469C>A
10g.71687691C=CA1918826413CDH23c.2031C= (p.Phe677=)
c.1462C=
c.2046C= (p.Phe682=)
c.806C=
c.2226C= (p.Phe742=)
c.2160C= (p.Phe720=)
c.2220C= (p.Phe740=)
c.2166C= (p.Phe722=)
c.2091C= (p.Phe697=)
c.1686C= (p.Phe562=)
c.1044C= (p.Phe348=)
n.2469C=
10g.71687691C>GCA377133372CDH23c.2031C>G (p.Phe677Leu)
c.1462C>G
c.2046C>G (p.Phe682Leu)
c.806C>G
c.2226C>G (p.Phe742Leu)
c.2160C>G (p.Phe720Leu)
c.2220C>G (p.Phe740Leu)
c.2166C>G (p.Phe722Leu)
c.2091C>G (p.Phe697Leu)
c.1686C>G (p.Phe562Leu)
c.1044C>G (p.Phe348Leu)
n.2469C>G
 dbSNP gnomAD v4
10g.71687691C>TCA5544052CDH23c.2031C>T (p.Phe677=)
c.1462C>T
c.2046C>T (p.Phe682=)
c.806C>T
c.2226C>T (p.Phe742=)
c.2160C>T (p.Phe720=)
c.2220C>T (p.Phe740=)
c.2166C>T (p.Phe722=)
c.2091C>T (p.Phe697=)
c.1686C>T (p.Phe562=)
c.1044C>T (p.Phe348=)
n.2469C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.71687692G>ACA5544053CDH23c.2032G>A (p.Val678Ile)
c.1463G>A
c.2047G>A (p.Val683Ile)
c.807G>A
c.2227G>A (p.Val743Ile)
c.2161G>A (p.Val721Ile)
c.2221G>A (p.Val741Ile)
c.2167G>A (p.Val723Ile)
c.2092G>A (p.Val698Ile)
c.1687G>A (p.Val563Ile)
c.1045G>A (p.Val349Ile)
n.2470G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687692G>CCA377133377CDH23c.2032G>C (p.Val678Leu)
c.1463G>C
c.2047G>C (p.Val683Leu)
c.807G>C
c.2227G>C (p.Val743Leu)
c.2161G>C (p.Val721Leu)
c.2221G>C (p.Val741Leu)
c.2167G>C (p.Val723Leu)
c.2092G>C (p.Val698Leu)
c.1687G>C (p.Val563Leu)
c.1045G>C (p.Val349Leu)
n.2470G>C
10g.71687692G=CA1918826414CDH23c.2032G= (p.Val678=)
c.1463G=
c.2047G= (p.Val683=)
c.807G=
c.2227G= (p.Val743=)
c.2161G= (p.Val721=)
c.2221G= (p.Val741=)
c.2167G= (p.Val723=)
c.2092G= (p.Val698=)
c.1687G= (p.Val563=)
c.1045G= (p.Val349=)
n.2470G=
10g.71687692G>TCA377133379CDH23c.2032G>T (p.Val678Phe)
c.1463G>T
c.2047G>T (p.Val683Phe)
c.807G>T
c.2227G>T (p.Val743Phe)
c.2161G>T (p.Val721Phe)
c.2221G>T (p.Val741Phe)
c.2167G>T (p.Val723Phe)
c.2092G>T (p.Val698Phe)
c.1687G>T (p.Val563Phe)
c.1045G>T (p.Val349Phe)
n.2470G>T
10g.71687693T>ACA377133382CDH23c.2033T>A (p.Val678Asp)
c.1464T>A
c.2048T>A (p.Val683Asp)
c.808T>A
c.2228T>A (p.Val743Asp)
c.2162T>A (p.Val721Asp)
c.2222T>A (p.Val741Asp)
c.2168T>A (p.Val723Asp)
c.2093T>A (p.Val698Asp)
c.1688T>A (p.Val563Asp)
c.1046T>A (p.Val349Asp)
n.2471T>A
 dbSNP
10g.71687693T>CCA377133384CDH23c.2033T>C (p.Val678Ala)
c.1464T>C
c.2048T>C (p.Val683Ala)
c.808T>C
c.2228T>C (p.Val743Ala)
c.2162T>C (p.Val721Ala)
c.2222T>C (p.Val741Ala)
c.2168T>C (p.Val723Ala)
c.2093T>C (p.Val698Ala)
c.1688T>C (p.Val563Ala)
c.1046T>C (p.Val349Ala)
n.2471T>C
10g.71687693T>GCA377133386CDH23c.2033T>G (p.Val678Gly)
c.1464T>G
c.2048T>G (p.Val683Gly)
c.808T>G
c.2228T>G (p.Val743Gly)
c.2162T>G (p.Val721Gly)
c.2222T>G (p.Val741Gly)
c.2168T>G (p.Val723Gly)
c.2093T>G (p.Val698Gly)
c.1688T>G (p.Val563Gly)
c.1046T>G (p.Val349Gly)
n.2471T>G
10g.71687694C>ACA470059778CDH23c.2034C>A (p.Val678=)
c.1465C>A
c.2049C>A (p.Val683=)
c.809C>A
c.2229C>A (p.Val743=)
c.2163C>A (p.Val721=)
c.2223C>A (p.Val741=)
c.2169C>A (p.Val723=)
c.2094C>A (p.Val698=)
c.1689C>A (p.Val563=)
c.1047C>A (p.Val349=)
n.2472C>A
 gnomAD v4
10g.71687694C>GCA470059779CDH23c.2034C>G (p.Val678=)
c.1465C>G
c.2049C>G (p.Val683=)
c.809C>G
c.2229C>G (p.Val743=)
c.2163C>G (p.Val721=)
c.2223C>G (p.Val741=)
c.2169C>G (p.Val723=)
c.2094C>G (p.Val698=)
c.1689C>G (p.Val563=)
c.1047C>G (p.Val349=)
n.2472C>G
10g.71687694C>TCA470059780CDH23c.2034C>T (p.Val678=)
c.1465C>T
c.2049C>T (p.Val683=)
c.809C>T
c.2229C>T (p.Val743=)
c.2163C>T (p.Val721=)
c.2223C>T (p.Val741=)
c.2169C>T (p.Val723=)
c.2094C>T (p.Val698=)
c.1689C>T (p.Val563=)
c.1047C>T (p.Val349=)
n.2472C>T
 ClinVar
10g.71687695T>ACA377133390CDH23c.2035T>A (p.Ser679Thr)
c.1466T>A
c.2050T>A (p.Ser684Thr)
c.810T>A
c.2230T>A (p.Ser744Thr)
c.2164T>A (p.Ser722Thr)
c.2224T>A (p.Ser742Thr)
c.2170T>A (p.Ser724Thr)
c.2095T>A (p.Ser699Thr)
c.1690T>A (p.Ser564Thr)
c.1048T>A (p.Ser350Thr)
n.2473T>A
10g.71687695T>CCA377133393CDH23c.2035T>C (p.Ser679Pro)
c.1466T>C
c.2050T>C (p.Ser684Pro)
c.810T>C
c.2230T>C (p.Ser744Pro)
c.2164T>C (p.Ser722Pro)
c.2224T>C (p.Ser742Pro)
c.2170T>C (p.Ser724Pro)
c.2095T>C (p.Ser699Pro)
c.1690T>C (p.Ser564Pro)
c.1048T>C (p.Ser350Pro)
n.2473T>C
10g.71687695T>GCA377133395CDH23c.2035T>G (p.Ser679Ala)
c.1466T>G
c.2050T>G (p.Ser684Ala)
c.810T>G
c.2230T>G (p.Ser744Ala)
c.2164T>G (p.Ser722Ala)
c.2224T>G (p.Ser742Ala)
c.2170T>G (p.Ser724Ala)
c.2095T>G (p.Ser699Ala)
c.1690T>G (p.Ser564Ala)
c.1048T>G (p.Ser350Ala)
n.2473T>G
10g.71687696C>ACA209436130CDH23c.2036C>A (p.Ser679Tyr)
c.1467C>A
c.2051C>A (p.Ser684Tyr)
c.811C>A
c.2231C>A (p.Ser744Tyr)
c.2165C>A (p.Ser722Tyr)
c.2225C>A (p.Ser742Tyr)
c.2171C>A (p.Ser724Tyr)
c.2096C>A (p.Ser699Tyr)
c.1691C>A (p.Ser564Tyr)
c.1049C>A (p.Ser350Tyr)
n.2474C>A
 ClinVar dbSNP
10g.71687696C=CA1918826415CDH23c.2036C= (p.Ser679=)
c.1467C=
c.2051C= (p.Ser684=)
c.811C=
c.2231C= (p.Ser744=)
c.2165C= (p.Ser722=)
c.2225C= (p.Ser742=)
c.2171C= (p.Ser724=)
c.2096C= (p.Ser699=)
c.1691C= (p.Ser564=)
c.1049C= (p.Ser350=)
n.2474C=
10g.71687696C>GCA377133400CDH23c.2036C>G (p.Ser679Cys)
c.1467C>G
c.2051C>G (p.Ser684Cys)
c.811C>G
c.2231C>G (p.Ser744Cys)
c.2165C>G (p.Ser722Cys)
c.2225C>G (p.Ser742Cys)
c.2171C>G (p.Ser724Cys)
c.2096C>G (p.Ser699Cys)
c.1691C>G (p.Ser564Cys)
c.1049C>G (p.Ser350Cys)
n.2474C>G
10g.71687696C>TCA377133397CDH23c.2036C>T (p.Ser679Phe)
c.1467C>T
c.2051C>T (p.Ser684Phe)
c.811C>T
c.2231C>T (p.Ser744Phe)
c.2165C>T (p.Ser722Phe)
c.2225C>T (p.Ser742Phe)
c.2171C>T (p.Ser724Phe)
c.2096C>T (p.Ser699Phe)
c.1691C>T (p.Ser564Phe)
c.1049C>T (p.Ser350Phe)
n.2474C>T
10g.71687697C>ACA470059781CDH23c.2037C>A (p.Ser679=)
c.1468C>A
c.2052C>A (p.Ser684=)
c.812C>A
c.2232C>A (p.Ser744=)
c.2166C>A (p.Ser722=)
c.2226C>A (p.Ser742=)
c.2172C>A (p.Ser724=)
c.2097C>A (p.Ser699=)
c.1692C>A (p.Ser564=)
c.1050C>A (p.Ser350=)
n.2475C>A
10g.71687697C=CA1918826416CDH23c.2037C= (p.Ser679=)
c.1468C=
c.2052C= (p.Ser684=)
c.812C=
c.2232C= (p.Ser744=)
c.2166C= (p.Ser722=)
c.2226C= (p.Ser742=)
c.2172C= (p.Ser724=)
c.2097C= (p.Ser699=)
c.1692C= (p.Ser564=)
c.1050C= (p.Ser350=)
n.2475C=
10g.71687697C>GCA470059782CDH23c.2037C>G (p.Ser679=)
c.1468C>G
c.2052C>G (p.Ser684=)
c.812C>G
c.2232C>G (p.Ser744=)
c.2166C>G (p.Ser722=)
c.2226C>G (p.Ser742=)
c.2172C>G (p.Ser724=)
c.2097C>G (p.Ser699=)
c.1692C>G (p.Ser564=)
c.1050C>G (p.Ser350=)
n.2475C>G
10g.71687697C>TCA5544054CDH23c.2037C>T (p.Ser679=)
c.1468C>T
c.2052C>T (p.Ser684=)
c.812C>T
c.2232C>T (p.Ser744=)
c.2166C>T (p.Ser722=)
c.2226C>T (p.Ser742=)
c.2172C>T (p.Ser724=)
c.2097C>T (p.Ser699=)
c.1692C>T (p.Ser564=)
c.1050C>T (p.Ser350=)
n.2475C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.71687698G>ACA5544055CDH23c.2038G>A (p.Val680Met)
c.1469G>A
c.2053G>A (p.Val685Met)
c.813G>A
c.2233G>A (p.Val745Met)
c.2167G>A (p.Val723Met)
c.2227G>A (p.Val743Met)
c.2173G>A (p.Val725Met)
c.2098G>A (p.Val700Met)
c.1693G>A (p.Val565Met)
c.1051G>A (p.Val351Met)
n.2476G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687698G>CCA377133405CDH23c.2038G>C (p.Val680Leu)
c.1469G>C
c.2053G>C (p.Val685Leu)
c.813G>C
c.2233G>C (p.Val745Leu)
c.2167G>C (p.Val723Leu)
c.2227G>C (p.Val743Leu)
c.2173G>C (p.Val725Leu)
c.2098G>C (p.Val700Leu)
c.1693G>C (p.Val565Leu)
c.1051G>C (p.Val351Leu)
n.2476G>C
10g.71687698G=CA1918826417CDH23c.2038G= (p.Val680=)
c.1469G=
c.2053G= (p.Val685=)
c.813G=
c.2233G= (p.Val745=)
c.2167G= (p.Val723=)
c.2227G= (p.Val743=)
c.2173G= (p.Val725=)
c.2098G= (p.Val700=)
c.1693G= (p.Val565=)
c.1051G= (p.Val351=)
n.2476G=
10g.71687698G>TCA377133408CDH23c.2038G>T (p.Val680Leu)
c.1469G>T
c.2053G>T (p.Val685Leu)
c.813G>T
c.2233G>T (p.Val745Leu)
c.2167G>T (p.Val723Leu)
c.2227G>T (p.Val743Leu)
c.2173G>T (p.Val725Leu)
c.2098G>T (p.Val700Leu)
c.1693G>T (p.Val565Leu)
c.1051G>T (p.Val351Leu)
n.2476G>T
10g.71687699T>ACA377133412CDH23c.2039T>A (p.Val680Glu)
c.1470T>A
c.2054T>A (p.Val685Glu)
c.814T>A
c.2234T>A (p.Val745Glu)
c.2168T>A (p.Val723Glu)
c.2228T>A (p.Val743Glu)
c.2174T>A (p.Val725Glu)
c.2099T>A (p.Val700Glu)
c.1694T>A (p.Val565Glu)
c.1052T>A (p.Val351Glu)
n.2477T>A
10g.71687699T>CCA377133414CDH23c.2039T>C (p.Val680Ala)
c.1470T>C
c.2054T>C (p.Val685Ala)
c.814T>C
c.2234T>C (p.Val745Ala)
c.2168T>C (p.Val723Ala)
c.2228T>C (p.Val743Ala)
c.2174T>C (p.Val725Ala)
c.2099T>C (p.Val700Ala)
c.1694T>C (p.Val565Ala)
c.1052T>C (p.Val351Ala)
n.2477T>C
10g.71687699T>GCA377133415CDH23c.2039T>G (p.Val680Gly)
c.1470T>G
c.2054T>G (p.Val685Gly)
c.814T>G
c.2234T>G (p.Val745Gly)
c.2168T>G (p.Val723Gly)
c.2228T>G (p.Val743Gly)
c.2174T>G (p.Val725Gly)
c.2099T>G (p.Val700Gly)
c.1694T>G (p.Val565Gly)
c.1052T>G (p.Val351Gly)
n.2477T>G
10g.71687700G>ACA470059785CDH23c.2040G>A (p.Val680=)
c.1471G>A
c.2055G>A (p.Val685=)
c.815G>A
c.2235G>A (p.Val745=)
c.2169G>A (p.Val723=)
c.2229G>A (p.Val743=)
c.2175G>A (p.Val725=)
c.2100G>A (p.Val700=)
c.1695G>A (p.Val565=)
c.1053G>A (p.Val351=)
n.2478G>A
10g.71687700G>CCA470059786CDH23c.2040G>C (p.Val680=)
c.1471G>C
c.2055G>C (p.Val685=)
c.815G>C
c.2235G>C (p.Val745=)
c.2169G>C (p.Val723=)
c.2229G>C (p.Val743=)
c.2175G>C (p.Val725=)
c.2100G>C (p.Val700=)
c.1695G>C (p.Val565=)
c.1053G>C (p.Val351=)
n.2478G>C
 ClinVar dbSNP
10g.71687700G=CA1918826418CDH23c.2040G= (p.Val680=)
c.1471G=
c.2055G= (p.Val685=)
c.815G=
c.2235G= (p.Val745=)
c.2169G= (p.Val723=)
c.2229G= (p.Val743=)
c.2175G= (p.Val725=)
c.2100G= (p.Val700=)
c.1695G= (p.Val565=)
c.1053G= (p.Val351=)
n.2478G=
10g.71687700G>TCA470059787CDH23c.2040G>T (p.Val680=)
c.1471G>T
c.2055G>T (p.Val685=)
c.815G>T
c.2235G>T (p.Val745=)
c.2169G>T (p.Val723=)
c.2229G>T (p.Val743=)
c.2175G>T (p.Val725=)
c.2100G>T (p.Val700=)
c.1695G>T (p.Val565=)
c.1053G>T (p.Val351=)
n.2478G>T
10g.71687701G>ACA377133418CDH23c.2041G>A (p.Val681Met)
c.1472G>A
c.2056G>A (p.Val686Met)
c.816G>A
c.2236G>A (p.Val746Met)
c.2170G>A (p.Val724Met)
c.2230G>A (p.Val744Met)
c.2176G>A (p.Val726Met)
c.2101G>A (p.Val701Met)
c.1696G>A (p.Val566Met)
c.1054G>A (p.Val352Met)
n.2479G>A
 dbSNP gnomAD v4
10g.71687701G>CCA5544056CDH23c.2041G>C (p.Val681Leu)
c.1472G>C
c.2056G>C (p.Val686Leu)
c.816G>C
c.2236G>C (p.Val746Leu)
c.2170G>C (p.Val724Leu)
c.2230G>C (p.Val744Leu)
c.2176G>C (p.Val726Leu)
c.2101G>C (p.Val701Leu)
c.1696G>C (p.Val566Leu)
c.1054G>C (p.Val352Leu)
n.2479G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687701G=CA1918826419CDH23c.2041G= (p.Val681=)
c.1472G=
c.2056G= (p.Val686=)
c.816G=
c.2236G= (p.Val746=)
c.2170G= (p.Val724=)
c.2230G= (p.Val744=)
c.2176G= (p.Val726=)
c.2101G= (p.Val701=)
c.1696G= (p.Val566=)
c.1054G= (p.Val352=)
n.2479G=
10g.71687701G>TCA377133422CDH23c.2041G>T (p.Val681Leu)
c.1472G>T
c.2056G>T (p.Val686Leu)
c.816G>T
c.2236G>T (p.Val746Leu)
c.2170G>T (p.Val724Leu)
c.2230G>T (p.Val744Leu)
c.2176G>T (p.Val726Leu)
c.2101G>T (p.Val701Leu)
c.1696G>T (p.Val566Leu)
c.1054G>T (p.Val352Leu)
n.2479G>T
10g.71687702T>ACA377133426CDH23c.2042T>A (p.Val681Glu)
c.1473T>A
c.2057T>A (p.Val686Glu)
c.817T>A
c.2237T>A (p.Val746Glu)
c.2171T>A (p.Val724Glu)
c.2231T>A (p.Val744Glu)
c.2177T>A (p.Val726Glu)
c.2102T>A (p.Val701Glu)
c.1697T>A (p.Val566Glu)
c.1055T>A (p.Val352Glu)
n.2480T>A
10g.71687702T>CCA377133428CDH23c.2042T>C (p.Val681Ala)
c.1473T>C
c.2057T>C (p.Val686Ala)
c.817T>C
c.2237T>C (p.Val746Ala)
c.2171T>C (p.Val724Ala)
c.2231T>C (p.Val744Ala)
c.2177T>C (p.Val726Ala)
c.2102T>C (p.Val701Ala)
c.1697T>C (p.Val566Ala)
c.1055T>C (p.Val352Ala)
n.2480T>C
10g.71687702T>GCA377133429CDH23c.2042T>G (p.Val681Gly)
c.1473T>G
c.2057T>G (p.Val686Gly)
c.817T>G
c.2237T>G (p.Val746Gly)
c.2171T>G (p.Val724Gly)
c.2231T>G (p.Val744Gly)
c.2177T>G (p.Val726Gly)
c.2102T>G (p.Val701Gly)
c.1697T>G (p.Val566Gly)
c.1055T>G (p.Val352Gly)
n.2480T>G
10g.71687702_71687705delinsTGGACA1918826420CDH23c.2042_2045delinsTGGA (p.Val681=)
c.1473_1476delinsTGGA
c.2057_2060delinsTGGA (p.Val686=)
c.817_820delinsTGGA
c.2237_2240delinsTGGA (p.Val746=)
c.2171_2174delinsTGGA (p.Val724=)
c.2231_2234delinsTGGA (p.Val744=)
c.2177_2180delinsTGGA (p.Val726=)
c.2102_2105delinsTGGA (p.Val701=)
c.1697_1700delinsTGGA (p.Val566=)
c.1055_1058delinsTGGA (p.Val352=)
n.2480_2483delinsTGGA
10g.71687703G>ACA470059789CDH23c.2043G>A (p.Val681=)
c.1474G>A
c.2058G>A (p.Val686=)
c.818G>A
c.2238G>A (p.Val746=)
c.2172G>A (p.Val724=)
c.2232G>A (p.Val744=)
c.2178G>A (p.Val726=)
c.2103G>A (p.Val701=)
c.1698G>A (p.Val566=)
c.1056G>A (p.Val352=)
n.2481G>A
10g.71687703G>CCA470059790CDH23c.2043G>C (p.Val681=)
c.1474G>C
c.2058G>C (p.Val686=)
c.818G>C
c.2238G>C (p.Val746=)
c.2172G>C (p.Val724=)
c.2232G>C (p.Val744=)
c.2178G>C (p.Val726=)
c.2103G>C (p.Val701=)
c.1698G>C (p.Val566=)
c.1056G>C (p.Val352=)
n.2481G>C
10g.71687703G>TCA470059791CDH23c.2043G>T (p.Val681=)
c.1474G>T
c.2058G>T (p.Val686=)
c.818G>T
c.2238G>T (p.Val746=)
c.2172G>T (p.Val724=)
c.2232G>T (p.Val744=)
c.2178G>T (p.Val726=)
c.2103G>T (p.Val701=)
c.1698G>T (p.Val566=)
c.1056G>T (p.Val352=)
n.2481G>T
10g.71687704_71687706delCA594313438CDH23c.2044_2046del (p.Glu682del)
c.1475_1477del
c.2059_2061del (p.Glu687del)
c.819_821del
c.2239_2241del (p.Glu747del)
c.2173_2175del (p.Glu725del)
c.2233_2235del (p.Glu745del)
c.2179_2181del (p.Glu727del)
c.2104_2106del (p.Glu702del)
c.1699_1701del (p.Glu567del)
c.1057_1059del (p.Glu353del)
n.2482_2484del
 dbSNP gnomAD v2 gnomAD v4
10g.71687704G>ACA377133434CDH23c.2044G>A (p.Glu682Lys)
c.1475G>A
c.2059G>A (p.Glu687Lys)
c.819G>A
c.2239G>A (p.Glu747Lys)
c.2173G>A (p.Glu725Lys)
c.2233G>A (p.Glu745Lys)
c.2179G>A (p.Glu727Lys)
c.2104G>A (p.Glu702Lys)
c.1699G>A (p.Glu567Lys)
c.1057G>A (p.Glu353Lys)
n.2482G>A
10g.71687704G>CCA377133436CDH23c.2044G>C (p.Glu682Gln)
c.1475G>C
c.2059G>C (p.Glu687Gln)
c.819G>C
c.2239G>C (p.Glu747Gln)
c.2173G>C (p.Glu725Gln)
c.2233G>C (p.Glu745Gln)
c.2179G>C (p.Glu727Gln)
c.2104G>C (p.Glu702Gln)
c.1699G>C (p.Glu567Gln)
c.1057G>C (p.Glu353Gln)
n.2482G>C
10g.71687704G>TCA377133433CDH23c.2044G>T (p.Glu682Ter)
c.1475G>T
c.2059G>T (p.Glu687Ter)
c.819G>T
c.2239G>T (p.Glu747Ter)
c.2173G>T (p.Glu725Ter)
c.2233G>T (p.Glu745Ter)
c.2179G>T (p.Glu727Ter)
c.2104G>T (p.Glu702Ter)
c.1699G>T (p.Glu567Ter)
c.1057G>T (p.Glu353Ter)
n.2482G>T
10g.71687705A>CCA377133438CDH23c.2045A>C (p.Glu682Ala)
c.1476A>C
c.2060A>C (p.Glu687Ala)
c.820A>C
c.2240A>C (p.Glu747Ala)
c.2174A>C (p.Glu725Ala)
c.2234A>C (p.Glu745Ala)
c.2180A>C (p.Glu727Ala)
c.2105A>C (p.Glu702Ala)
c.1700A>C (p.Glu567Ala)
c.1058A>C (p.Glu353Ala)
n.2483A>C
10g.71687705A>GCA377133442CDH23c.2045A>G (p.Glu682Gly)
c.1476A>G
c.2060A>G (p.Glu687Gly)
c.820A>G
c.2240A>G (p.Glu747Gly)
c.2174A>G (p.Glu725Gly)
c.2234A>G (p.Glu745Gly)
c.2180A>G (p.Glu727Gly)
c.2105A>G (p.Glu702Gly)
c.1700A>G (p.Glu567Gly)
c.1058A>G (p.Glu353Gly)
n.2483A>G
10g.71687705A>TCA377133440CDH23c.2045A>T (p.Glu682Val)
c.1476A>T
c.2060A>T (p.Glu687Val)
c.820A>T
c.2240A>T (p.Glu747Val)
c.2174A>T (p.Glu725Val)
c.2234A>T (p.Glu745Val)
c.2180A>T (p.Glu727Val)
c.2105A>T (p.Glu702Val)
c.1700A>T (p.Glu567Val)
c.1058A>T (p.Glu353Val)
n.2483A>T
10g.71687706G>ACA470059793CDH23c.2046G>A (p.Glu682=)
c.1477G>A
c.2061G>A (p.Glu687=)
c.821G>A
c.2241G>A (p.Glu747=)
c.2175G>A (p.Glu725=)
c.2235G>A (p.Glu745=)
c.2181G>A (p.Glu727=)
c.2106G>A (p.Glu702=)
c.1701G>A (p.Glu567=)
c.1059G>A (p.Glu353=)
n.2484G>A
 dbSNP
10g.71687706G>CCA377133445CDH23c.2046G>C (p.Glu682Asp)
c.1477G>C
c.2061G>C (p.Glu687Asp)
c.821G>C
c.2241G>C (p.Glu747Asp)
c.2175G>C (p.Glu725Asp)
c.2235G>C (p.Glu745Asp)
c.2181G>C (p.Glu727Asp)
c.2106G>C (p.Glu702Asp)
c.1701G>C (p.Glu567Asp)
c.1059G>C (p.Glu353Asp)
n.2484G>C
10g.71687706G>TCA377133446CDH23c.2046G>T (p.Glu682Asp)
c.1477G>T
c.2061G>T (p.Glu687Asp)
c.821G>T
c.2241G>T (p.Glu747Asp)
c.2175G>T (p.Glu725Asp)
c.2235G>T (p.Glu745Asp)
c.2181G>T (p.Glu727Asp)
c.2106G>T (p.Glu702Asp)
c.1701G>T (p.Glu567Asp)
c.1059G>T (p.Glu353Asp)
n.2484G>T
10g.71687707A>CCA377133449CDH23c.2047A>C (p.Asn683His)
c.1478A>C
c.2062A>C (p.Asn688His)
c.822A>C
c.2242A>C (p.Asn748His)
c.2176A>C (p.Asn726His)
c.2236A>C (p.Asn746His)
c.2182A>C (p.Asn728His)
c.2107A>C (p.Asn703His)
c.1702A>C (p.Asn568His)
c.1060A>C (p.Asn354His)
n.2485A>C
10g.71687707A>GCA377133452CDH23c.2047A>G (p.Asn683Asp)
c.1478A>G
c.2062A>G (p.Asn688Asp)
c.822A>G
c.2242A>G (p.Asn748Asp)
c.2176A>G (p.Asn726Asp)
c.2236A>G (p.Asn746Asp)
c.2182A>G (p.Asn728Asp)
c.2107A>G (p.Asn703Asp)
c.1702A>G (p.Asn568Asp)
c.1060A>G (p.Asn354Asp)
n.2485A>G
 gnomAD v4
10g.71687707A>TCA377133454CDH23c.2047A>T (p.Asn683Tyr)
c.1478A>T
c.2062A>T (p.Asn688Tyr)
c.822A>T
c.2242A>T (p.Asn748Tyr)
c.2176A>T (p.Asn726Tyr)
c.2236A>T (p.Asn746Tyr)
c.2182A>T (p.Asn728Tyr)
c.2107A>T (p.Asn703Tyr)
c.1702A>T (p.Asn568Tyr)
c.1060A>T (p.Asn354Tyr)
n.2485A>T
10g.71687708A>CCA377133457CDH23c.2048A>C (p.Asn683Thr)
c.1479A>C
c.2063A>C (p.Asn688Thr)
c.823A>C
c.2243A>C (p.Asn748Thr)
c.2177A>C (p.Asn726Thr)
c.2237A>C (p.Asn746Thr)
c.2183A>C (p.Asn728Thr)
c.2108A>C (p.Asn703Thr)
c.1703A>C (p.Asn568Thr)
c.1061A>C (p.Asn354Thr)
n.2486A>C
10g.71687708A>GCA377133459CDH23c.2048A>G (p.Asn683Ser)
c.1479A>G
c.2063A>G (p.Asn688Ser)
c.823A>G
c.2243A>G (p.Asn748Ser)
c.2177A>G (p.Asn726Ser)
c.2237A>G (p.Asn746Ser)
c.2183A>G (p.Asn728Ser)
c.2108A>G (p.Asn703Ser)
c.1703A>G (p.Asn568Ser)
c.1061A>G (p.Asn354Ser)
n.2486A>G
 gnomAD v4 COSMIC COSMIC COSMIC
10g.71687708A>TCA377133461CDH23c.2048A>T (p.Asn683Ile)
c.1479A>T
c.2063A>T (p.Asn688Ile)
c.823A>T
c.2243A>T (p.Asn748Ile)
c.2177A>T (p.Asn726Ile)
c.2237A>T (p.Asn746Ile)
c.2183A>T (p.Asn728Ile)
c.2108A>T (p.Asn703Ile)
c.1703A>T (p.Asn568Ile)
c.1061A>T (p.Asn354Ile)
n.2486A>T
 gnomAD v4
10g.71687709C>ACA377133464CDH23c.2049C>A (p.Asn683Lys)
c.1480C>A
c.2064C>A (p.Asn688Lys)
c.824C>A
c.2244C>A (p.Asn748Lys)
c.2178C>A (p.Asn726Lys)
c.2238C>A (p.Asn746Lys)
c.2184C>A (p.Asn728Lys)
c.2109C>A (p.Asn703Lys)
c.1704C>A (p.Asn568Lys)
c.1062C>A (p.Asn354Lys)
n.2487C>A
10g.71687709C=CA1918826421CDH23c.2049C= (p.Asn683=)
c.1480C=
c.2064C= (p.Asn688=)
c.824C=
c.2244C= (p.Asn748=)
c.2178C= (p.Asn726=)
c.2238C= (p.Asn746=)
c.2184C= (p.Asn728=)
c.2109C= (p.Asn703=)
c.1704C= (p.Asn568=)
c.1062C= (p.Asn354=)
n.2487C=
10g.71687709C>GCA377133465CDH23c.2049C>G (p.Asn683Lys)
c.1480C>G
c.2064C>G (p.Asn688Lys)
c.824C>G
c.2244C>G (p.Asn748Lys)
c.2178C>G (p.Asn726Lys)
c.2238C>G (p.Asn746Lys)
c.2184C>G (p.Asn728Lys)
c.2109C>G (p.Asn703Lys)
c.1704C>G (p.Asn568Lys)
c.1062C>G (p.Asn354Lys)
n.2487C>G
 dbSNP
10g.71687709C>TCA470059794CDH23c.2049C>T (p.Asn683=)
c.1480C>T
c.2064C>T (p.Asn688=)
c.824C>T
c.2244C>T (p.Asn748=)
c.2178C>T (p.Asn726=)
c.2238C>T (p.Asn746=)
c.2184C>T (p.Asn728=)
c.2109C>T (p.Asn703=)
c.1704C>T (p.Asn568=)
c.1062C>T (p.Asn354=)
n.2487C>T
 gnomAD v4
10g.71687710A>CCA377133468CDH23c.2050A>C (p.Ile684Leu)
c.1481A>C
c.2065A>C (p.Ile689Leu)
c.825A>C
c.2245A>C (p.Ile749Leu)
c.2179A>C (p.Ile727Leu)
c.2239A>C (p.Ile747Leu)
c.2185A>C (p.Ile729Leu)
c.2110A>C (p.Ile704Leu)
c.1705A>C (p.Ile569Leu)
c.1063A>C (p.Ile355Leu)
n.2488A>C
10g.71687710A>GCA377133470CDH23c.2050A>G (p.Ile684Val)
c.1481A>G
c.2065A>G (p.Ile689Val)
c.825A>G
c.2245A>G (p.Ile749Val)
c.2179A>G (p.Ile727Val)
c.2239A>G (p.Ile747Val)
c.2185A>G (p.Ile729Val)
c.2110A>G (p.Ile704Val)
c.1705A>G (p.Ile569Val)
c.1063A>G (p.Ile355Val)
n.2488A>G
10g.71687710A>TCA377133472CDH23c.2050A>T (p.Ile684Phe)
c.1481A>T
c.2065A>T (p.Ile689Phe)
c.825A>T
c.2245A>T (p.Ile749Phe)
c.2179A>T (p.Ile727Phe)
c.2239A>T (p.Ile747Phe)
c.2185A>T (p.Ile729Phe)
c.2110A>T (p.Ile704Phe)
c.1705A>T (p.Ile569Phe)
c.1063A>T (p.Ile355Phe)
n.2488A>T
10g.71687711T>ACA377133479CDH23c.2051T>A (p.Ile684Asn)
c.1482T>A
c.2066T>A (p.Ile689Asn)
c.826T>A
c.2246T>A (p.Ile749Asn)
c.2180T>A (p.Ile727Asn)
c.2240T>A (p.Ile747Asn)
c.2186T>A (p.Ile729Asn)
c.2111T>A (p.Ile704Asn)
c.1706T>A (p.Ile569Asn)
c.1064T>A (p.Ile355Asn)
n.2489T>A
10g.71687711T>CCA5544057CDH23c.2051T>C (p.Ile684Thr)
c.1482T>C
c.2066T>C (p.Ile689Thr)
c.826T>C
c.2246T>C (p.Ile749Thr)
c.2180T>C (p.Ile727Thr)
c.2240T>C (p.Ile747Thr)
c.2186T>C (p.Ile729Thr)
c.2111T>C (p.Ile704Thr)
c.1706T>C (p.Ile569Thr)
c.1064T>C (p.Ile355Thr)
n.2489T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71687711T>GCA377133475CDH23c.2051T>G (p.Ile684Ser)
c.1482T>G
c.2066T>G (p.Ile689Ser)
c.826T>G
c.2246T>G (p.Ile749Ser)
c.2180T>G (p.Ile727Ser)
c.2240T>G (p.Ile747Ser)
c.2186T>G (p.Ile729Ser)
c.2111T>G (p.Ile704Ser)
c.1706T>G (p.Ile569Ser)
c.1064T>G (p.Ile355Ser)
n.2489T>G
10g.71687711T=CA1918826422CDH23c.2051T= (p.Ile684=)
c.1482T=
c.2066T= (p.Ile689=)
c.826T=
c.2246T= (p.Ile749=)
c.2180T= (p.Ile727=)
c.2240T= (p.Ile747=)
c.2186T= (p.Ile729=)
c.2111T= (p.Ile704=)
c.1706T= (p.Ile569=)
c.1064T= (p.Ile355=)
n.2489T=
10g.71687712_71687721delCA2788462025CDH23c.2052_2059+2del
c.1483_1490+2del
c.2067_2074+2del
c.827_834+2del
c.2247_2254+2del
c.2181_2188+2del
c.2241_2248+2del
c.2187_2194+2del
c.2112_2119+2del
c.1707_1714+2del
c.1065_1072+2del
n.2490_2497+2del
10g.71687712C>ACA470059796CDH23c.2052C>A (p.Ile684=)
c.1483C>A
c.2067C>A (p.Ile689=)
c.827C>A
c.2247C>A (p.Ile749=)
c.2181C>A (p.Ile727=)
c.2241C>A (p.Ile747=)
c.2187C>A (p.Ile729=)
c.2112C>A (p.Ile704=)
c.1707C>A (p.Ile569=)
c.1065C>A (p.Ile355=)
n.2490C>A
10g.71687712C=CA1918826423CDH23c.2052C= (p.Ile684=)
c.1483C=
c.2067C= (p.Ile689=)
c.827C=
c.2247C= (p.Ile749=)
c.2181C= (p.Ile727=)
c.2241C= (p.Ile747=)
c.2187C= (p.Ile729=)
c.2112C= (p.Ile704=)
c.1707C= (p.Ile569=)
c.1065C= (p.Ile355=)
n.2490C=
10g.71687712C>GCA5544058CDH23c.2052C>G (p.Ile684Met)
c.1483C>G
c.2067C>G (p.Ile689Met)
c.827C>G
c.2247C>G (p.Ile749Met)
c.2181C>G (p.Ile727Met)
c.2241C>G (p.Ile747Met)
c.2187C>G (p.Ile729Met)
c.2112C>G (p.Ile704Met)
c.1707C>G (p.Ile569Met)
c.1065C>G (p.Ile355Met)
n.2490C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687712C>TCA470059797CDH23c.2052C>T (p.Ile684=)
c.1483C>T
c.2067C>T (p.Ile689=)
c.827C>T
c.2247C>T (p.Ile749=)
c.2181C>T (p.Ile727=)
c.2241C>T (p.Ile747=)
c.2187C>T (p.Ile729=)
c.2112C>T (p.Ile704=)
c.1707C>T (p.Ile569=)
c.1065C>T (p.Ile355=)
n.2490C>T
 COSMIC COSMIC COSMIC
10g.71687713A>CCA377133483CDH23c.2053A>C (p.Met685Leu)
c.1484A>C
c.2068A>C (p.Met690Leu)
c.828A>C
c.2248A>C (p.Met750Leu)
c.2182A>C (p.Met728Leu)
c.2242A>C (p.Met748Leu)
c.2188A>C (p.Met730Leu)
c.2113A>C (p.Met705Leu)
c.1708A>C (p.Met570Leu)
c.1066A>C (p.Met356Leu)
n.2491A>C
10g.71687713A>GCA377133486CDH23c.2053A>G (p.Met685Val)
c.1484A>G
c.2068A>G (p.Met690Val)
c.828A>G
c.2248A>G (p.Met750Val)
c.2182A>G (p.Met728Val)
c.2242A>G (p.Met748Val)
c.2188A>G (p.Met730Val)
c.2113A>G (p.Met705Val)
c.1708A>G (p.Met570Val)
c.1066A>G (p.Met356Val)
n.2491A>G
10g.71687713A>TCA377133487CDH23c.2053A>T (p.Met685Leu)
c.1484A>T
c.2068A>T (p.Met690Leu)
c.828A>T
c.2248A>T (p.Met750Leu)
c.2182A>T (p.Met728Leu)
c.2242A>T (p.Met748Leu)
c.2188A>T (p.Met730Leu)
c.2113A>T (p.Met705Leu)
c.1708A>T (p.Met570Leu)
c.1066A>T (p.Met356Leu)
n.2491A>T
10g.71687714T>ACA377133488CDH23c.2054T>A (p.Met685Lys)
c.1485T>A
c.2069T>A (p.Met690Lys)
c.829T>A
c.2249T>A (p.Met750Lys)
c.2183T>A (p.Met728Lys)
c.2243T>A (p.Met748Lys)
c.2189T>A (p.Met730Lys)
c.2114T>A (p.Met705Lys)
c.1709T>A (p.Met570Lys)
c.1067T>A (p.Met356Lys)
n.2492T>A
10g.71687714T>CCA377133489CDH23c.2054T>C (p.Met685Thr)
c.1485T>C
c.2069T>C (p.Met690Thr)
c.829T>C
c.2249T>C (p.Met750Thr)
c.2183T>C (p.Met728Thr)
c.2243T>C (p.Met748Thr)
c.2189T>C (p.Met730Thr)
c.2114T>C (p.Met705Thr)
c.1709T>C (p.Met570Thr)
c.1067T>C (p.Met356Thr)
n.2492T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71687714T>GCA377133490CDH23c.2054T>G (p.Met685Arg)
c.1485T>G
c.2069T>G (p.Met690Arg)
c.829T>G
c.2249T>G (p.Met750Arg)
c.2183T>G (p.Met728Arg)
c.2243T>G (p.Met748Arg)
c.2189T>G (p.Met730Arg)
c.2114T>G (p.Met705Arg)
c.1709T>G (p.Met570Arg)
c.1067T>G (p.Met356Arg)
n.2492T>G
10g.71687714T=CA1918826424CDH23c.2054T= (p.Met685=)
c.1485T=
c.2069T= (p.Met690=)
c.829T=
c.2249T= (p.Met750=)
c.2183T= (p.Met728=)
c.2243T= (p.Met748=)
c.2189T= (p.Met730=)
c.2114T= (p.Met705=)
c.1709T= (p.Met570=)
c.1067T= (p.Met356=)
n.2492T=
10g.71687715G>ACA377133494CDH23c.2055G>A (p.Met685Ile)
c.1486G>A
c.2070G>A (p.Met690Ile)
c.830G>A
c.2250G>A (p.Met750Ile)
c.2184G>A (p.Met728Ile)
c.2244G>A (p.Met748Ile)
c.2190G>A (p.Met730Ile)
c.2115G>A (p.Met705Ile)
c.1710G>A (p.Met570Ile)
c.1068G>A (p.Met356Ile)
n.2493G>A
10g.71687715G>CCA377133495CDH23c.2055G>C (p.Met685Ile)
c.1486G>C
c.2070G>C (p.Met690Ile)
c.830G>C
c.2250G>C (p.Met750Ile)
c.2184G>C (p.Met728Ile)
c.2244G>C (p.Met748Ile)
c.2190G>C (p.Met730Ile)
c.2115G>C (p.Met705Ile)
c.1710G>C (p.Met570Ile)
c.1068G>C (p.Met356Ile)
n.2493G>C
10g.71687715G>TCA377133503CDH23c.2055G>T (p.Met685Ile)
c.1486G>T
c.2070G>T (p.Met690Ile)
c.830G>T
c.2250G>T (p.Met750Ile)
c.2184G>T (p.Met728Ile)
c.2244G>T (p.Met748Ile)
c.2190G>T (p.Met730Ile)
c.2115G>T (p.Met705Ile)
c.1710G>T (p.Met570Ile)
c.1068G>T (p.Met356Ile)
n.2493G>T
10g.71687716G>ACA377133506CDH23c.2056G>A (p.Ala686Thr)
c.1487G>A
c.2071G>A (p.Ala691Thr)
c.831G>A
c.2251G>A (p.Ala751Thr)
c.2185G>A (p.Ala729Thr)
c.2245G>A (p.Ala749Thr)
c.2191G>A (p.Ala731Thr)
c.2116G>A (p.Ala706Thr)
c.1711G>A (p.Ala571Thr)
c.1069G>A (p.Ala357Thr)
n.2494G>A
 ClinVar gnomAD v4
10g.71687716G>CCA377133509CDH23c.2056G>C (p.Ala686Pro)
c.1487G>C
c.2071G>C (p.Ala691Pro)
c.831G>C
c.2251G>C (p.Ala751Pro)
c.2185G>C (p.Ala729Pro)
c.2245G>C (p.Ala749Pro)
c.2191G>C (p.Ala731Pro)
c.2116G>C (p.Ala706Pro)
c.1711G>C (p.Ala571Pro)
c.1069G>C (p.Ala357Pro)
n.2494G>C
10g.71687716G>TCA377133511CDH23c.2056G>T (p.Ala686Ser)
c.1487G>T
c.2071G>T (p.Ala691Ser)
c.831G>T
c.2251G>T (p.Ala751Ser)
c.2185G>T (p.Ala729Ser)
c.2245G>T (p.Ala749Ser)
c.2191G>T (p.Ala731Ser)
c.2116G>T (p.Ala706Ser)
c.1711G>T (p.Ala571Ser)
c.1069G>T (p.Ala357Ser)
n.2494G>T
10g.71687717C>ACA377133518CDH23c.2057C>A (p.Ala686Glu)
c.1488C>A
c.2072C>A (p.Ala691Glu)
c.832C>A
c.2252C>A (p.Ala751Glu)
c.2186C>A (p.Ala729Glu)
c.2246C>A (p.Ala749Glu)
c.2192C>A (p.Ala731Glu)
c.2117C>A (p.Ala706Glu)
c.1712C>A (p.Ala571Glu)
c.1070C>A (p.Ala357Glu)
n.2495C>A
 ClinVar
10g.71687717C>GCA377133519CDH23c.2057C>G (p.Ala686Gly)
c.1488C>G
c.2072C>G (p.Ala691Gly)
c.832C>G
c.2252C>G (p.Ala751Gly)
c.2186C>G (p.Ala729Gly)
c.2246C>G (p.Ala749Gly)
c.2192C>G (p.Ala731Gly)
c.2117C>G (p.Ala706Gly)
c.1712C>G (p.Ala571Gly)
c.1070C>G (p.Ala357Gly)
n.2495C>G
 dbSNP
10g.71687717C>TCA377133514CDH23c.2057C>T (p.Ala686Val)
c.1488C>T
c.2072C>T (p.Ala691Val)
c.832C>T
c.2252C>T (p.Ala751Val)
c.2186C>T (p.Ala729Val)
c.2246C>T (p.Ala749Val)
c.2192C>T (p.Ala731Val)
c.2117C>T (p.Ala706Val)
c.1712C>T (p.Ala571Val)
c.1070C>T (p.Ala357Val)
n.2495C>T
 dbSNP gnomAD v4
10g.71687718A>CCA470059803CDH23c.2058A>C (p.Ala686=)
c.1489A>C
c.2073A>C (p.Ala691=)
c.833A>C
c.2253A>C (p.Ala751=)
c.2187A>C (p.Ala729=)
c.2247A>C (p.Ala749=)
c.2193A>C (p.Ala731=)
c.2118A>C (p.Ala706=)
c.1713A>C (p.Ala571=)
c.1071A>C (p.Ala357=)
n.2496A>C
10g.71687718A>GCA470059804CDH23c.2058A>G (p.Ala686=)
c.1489A>G
c.2073A>G (p.Ala691=)
c.833A>G
c.2253A>G (p.Ala751=)
c.2187A>G (p.Ala729=)
c.2247A>G (p.Ala749=)
c.2193A>G (p.Ala731=)
c.2118A>G (p.Ala706=)
c.1713A>G (p.Ala571=)
c.1071A>G (p.Ala357=)
n.2496A>G
10g.71687718A>TCA470059805CDH23c.2058A>T (p.Ala686=)
c.1489A>T
c.2073A>T (p.Ala691=)
c.833A>T
c.2253A>T (p.Ala751=)
c.2187A>T (p.Ala729=)
c.2247A>T (p.Ala749=)
c.2193A>T (p.Ala731=)
c.2118A>T (p.Ala706=)
c.1713A>T (p.Ala571=)
c.1071A>T (p.Ala357=)
n.2496A>T
10g.71687719G>ACA377133524CDH23c.2059G>A (p.Gly687Arg)
c.1490G>A
c.2074G>A (p.Gly692Arg)
c.834G>A
c.2254G>A (p.Gly752Arg)
c.2188G>A (p.Gly730Arg)
c.2248G>A (p.Gly750Arg)
c.2194G>A (p.Gly732Arg)
c.2119G>A (p.Gly707Arg)
c.1714G>A (p.Gly572Arg)
c.1072G>A (p.Gly358Arg)
n.2497G>A
 ClinVar dbSNP
10g.71687719G>CCA377133525CDH23c.2059G>C (p.Gly687Arg)
c.1490G>C
c.2074G>C (p.Gly692Arg)
c.834G>C
c.2254G>C (p.Gly752Arg)
c.2188G>C (p.Gly730Arg)
c.2248G>C (p.Gly750Arg)
c.2194G>C (p.Gly732Arg)
c.2119G>C (p.Gly707Arg)
c.1714G>C (p.Gly572Arg)
c.1072G>C (p.Gly358Arg)
n.2497G>C
10g.71687719G=CA1918826425CDH23c.2059G= (p.Gly687=)
c.1490G=
c.2074G= (p.Gly692=)
c.834G=
c.2254G= (p.Gly752=)
c.2188G= (p.Gly730=)
c.2248G= (p.Gly750=)
c.2194G= (p.Gly732=)
c.2119G= (p.Gly707=)
c.1714G= (p.Gly572=)
c.1072G= (p.Gly358=)
n.2497G=
10g.71687719G>TCA377133527CDH23c.2059G>T (p.Gly687Ter)
c.1490G>T
c.2074G>T (p.Gly692Ter)
c.834G>T
c.2254G>T (p.Gly752Ter)
c.2188G>T (p.Gly730Ter)
c.2248G>T (p.Gly750Ter)
c.2194G>T (p.Gly732Ter)
c.2119G>T (p.Gly707Ter)
c.1714G>T (p.Gly572Ter)
c.1072G>T (p.Gly358Ter)
n.2497G>T
 ClinVar dbSNP
10g.71687720G>ACA377133529CDH23c.2059+1G>A (n.2059+1G>A)
c.1490+1G>A
c.2074+1G>A (n.2074+1G>A)
c.834+1G>A
c.2254+1G>A (n.2254+1G>A)
c.2188+1G>A (n.2188+1G>A)
c.2248+1G>A (n.2248+1G>A)
c.2194+1G>A (n.2194+1G>A)
c.2119+1G>A (n.2119+1G>A)
c.1714+1G>A (n.1714+1G>A)
c.1072+1G>A (n.1072+1G>A)
n.2497+1G>A
 dbSNP
10g.71687720G>CCA377133532CDH23c.2059+1G>C (n.2059+1G>C)
c.1490+1G>C
c.2074+1G>C (n.2074+1G>C)
c.834+1G>C
c.2254+1G>C (n.2254+1G>C)
c.2188+1G>C (n.2188+1G>C)
c.2248+1G>C (n.2248+1G>C)
c.2194+1G>C (n.2194+1G>C)
c.2119+1G>C (n.2119+1G>C)
c.1714+1G>C (n.1714+1G>C)
c.1072+1G>C (n.1072+1G>C)
n.2497+1G>C
10g.71687720G=CA1918826426CDH23c.2059+1G= (n.2059+1G=)
c.1490+1G=
c.2074+1G= (n.2074+1G=)
c.834+1G=
c.2254+1G= (n.2254+1G=)
c.2188+1G= (n.2188+1G=)
c.2248+1G= (n.2248+1G=)
c.2194+1G= (n.2194+1G=)
c.2119+1G= (n.2119+1G=)
c.1714+1G= (n.1714+1G=)
c.1072+1G= (n.1072+1G=)
n.2497+1G=
10g.71687720G>TCA377133534CDH23c.2059+1G>T (n.2059+1G>T)
c.1490+1G>T
c.2074+1G>T (n.2074+1G>T)
c.834+1G>T
c.2254+1G>T (n.2254+1G>T)
c.2188+1G>T (n.2188+1G>T)
c.2248+1G>T (n.2248+1G>T)
c.2194+1G>T (n.2194+1G>T)
c.2119+1G>T (n.2119+1G>T)
c.1714+1G>T (n.1714+1G>T)
c.1072+1G>T (n.1072+1G>T)
n.2497+1G>T
 ClinVar dbSNP gnomAD v4
10g.71687721T>ACA377133537CDH23c.2059+2T>A (n.2059+2T>A)
c.1490+2T>A
c.2074+2T>A (n.2074+2T>A)
c.834+2T>A
c.2254+2T>A (n.2254+2T>A)
c.2188+2T>A (n.2188+2T>A)
c.2248+2T>A (n.2248+2T>A)
c.2194+2T>A (n.2194+2T>A)
c.2119+2T>A (n.2119+2T>A)
c.1714+2T>A (n.1714+2T>A)
c.1072+2T>A (n.1072+2T>A)
n.2497+2T>A
10g.71687721T>CCA377133539CDH23c.2059+2T>C (n.2059+2T>C)
c.1490+2T>C
c.2074+2T>C (n.2074+2T>C)
c.834+2T>C
c.2254+2T>C (n.2254+2T>C)
c.2188+2T>C (n.2188+2T>C)
c.2248+2T>C (n.2248+2T>C)
c.2194+2T>C (n.2194+2T>C)
c.2119+2T>C (n.2119+2T>C)
c.1714+2T>C (n.1714+2T>C)
c.1072+2T>C (n.1072+2T>C)
n.2497+2T>C
10g.71687721T>GCA5544059CDH23c.2059+2T>G (n.2059+2T>G)
c.1490+2T>G
c.2074+2T>G (n.2074+2T>G)
c.834+2T>G
c.2254+2T>G (n.2254+2T>G)
c.2188+2T>G (n.2188+2T>G)
c.2248+2T>G (n.2248+2T>G)
c.2194+2T>G (n.2194+2T>G)
c.2119+2T>G (n.2119+2T>G)
c.1714+2T>G (n.1714+2T>G)
c.1072+2T>G (n.1072+2T>G)
n.2497+2T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71687721T=CA1918826427CDH23c.2059+2T= (n.2059+2T=)
c.1490+2T=
c.2074+2T= (n.2074+2T=)
c.834+2T=
c.2254+2T= (n.2254+2T=)
c.2188+2T= (n.2188+2T=)
c.2248+2T= (n.2248+2T=)
c.2194+2T= (n.2194+2T=)
c.2119+2T= (n.2119+2T=)
c.1714+2T= (n.1714+2T=)
c.1072+2T= (n.1072+2T=)
n.2497+2T=

Number of alleles fetched