Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71709081C>TCA2609546703CDH23c.3107-17C>T (n.3107-17C>T)
c.2538-17C>T
c.3122-17C>T (n.3122-17C>T)
c.1882-17C>T
c.3302-17C>T (n.3302-17C>T)
c.3236-17C>T (n.3236-17C>T)
c.3296-17C>T (n.3296-17C>T)
c.3242-17C>T (n.3242-17C>T)
c.3167-17C>T (n.3167-17C>T)
c.2762-17C>T (n.2762-17C>T)
c.2120-17C>T (n.2120-17C>T)
n.3545-17C>T
n.7G>A
 gnomAD v4
10g.71709082T>CCA2609546704CDH23c.3107-16T>C (n.3107-16T>C)
c.2538-16T>C
c.3122-16T>C (n.3122-16T>C)
c.1882-16T>C
c.3302-16T>C (n.3302-16T>C)
c.3236-16T>C (n.3236-16T>C)
c.3296-16T>C (n.3296-16T>C)
c.3242-16T>C (n.3242-16T>C)
c.3167-16T>C (n.3167-16T>C)
c.2762-16T>C (n.2762-16T>C)
c.2120-16T>C (n.2120-16T>C)
n.3545-16T>C
n.6A>G
 gnomAD v4
10g.71709083C>TCA2574574912CDH23c.3107-15C>T (n.3107-15C>T)
c.2538-15C>T
c.3122-15C>T (n.3122-15C>T)
c.1882-15C>T
c.3302-15C>T (n.3302-15C>T)
c.3236-15C>T (n.3236-15C>T)
c.3296-15C>T (n.3296-15C>T)
c.3242-15C>T (n.3242-15C>T)
c.3167-15C>T (n.3167-15C>T)
c.2762-15C>T (n.2762-15C>T)
c.2120-15C>T (n.2120-15C>T)
n.3545-15C>T
n.5G>A
 ClinVar gnomAD v4
10g.71709084T>CCA929779196CDH23c.3107-14T>C (n.3107-14T>C)
c.2538-14T>C
c.3122-14T>C (n.3122-14T>C)
c.1882-14T>C
c.3302-14T>C (n.3302-14T>C)
c.3236-14T>C (n.3236-14T>C)
c.3296-14T>C (n.3296-14T>C)
c.3242-14T>C (n.3242-14T>C)
c.3167-14T>C (n.3167-14T>C)
c.2762-14T>C (n.2762-14T>C)
c.2120-14T>C (n.2120-14T>C)
n.3545-14T>C
n.4A>G
 dbSNP gnomAD v3 gnomAD v4
10g.71709084T=CA1918840715CDH23c.3107-14T= (n.3107-14T=)
c.2538-14T=
c.3122-14T= (n.3122-14T=)
c.1882-14T=
c.3302-14T= (n.3302-14T=)
c.3236-14T= (n.3236-14T=)
c.3296-14T= (n.3296-14T=)
c.3242-14T= (n.3242-14T=)
c.3167-14T= (n.3167-14T=)
c.2762-14T= (n.2762-14T=)
c.2120-14T= (n.2120-14T=)
n.3545-14T=
n.4A=
10g.71709085C>ACA5544482CDH23c.3107-13C>A (n.3107-13C>A)
c.2538-13C>A
c.3122-13C>A (n.3122-13C>A)
c.1882-13C>A
c.3302-13C>A (n.3302-13C>A)
c.3236-13C>A (n.3236-13C>A)
c.3296-13C>A (n.3296-13C>A)
c.3242-13C>A (n.3242-13C>A)
c.3167-13C>A (n.3167-13C>A)
c.2762-13C>A (n.2762-13C>A)
c.2120-13C>A (n.2120-13C>A)
n.3545-13C>A
n.3G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709085C=CA1918840716CDH23c.3107-13C= (n.3107-13C=)
c.2538-13C=
c.3122-13C= (n.3122-13C=)
c.1882-13C=
c.3302-13C= (n.3302-13C=)
c.3236-13C= (n.3236-13C=)
c.3296-13C= (n.3296-13C=)
c.3242-13C= (n.3242-13C=)
c.3167-13C= (n.3167-13C=)
c.2762-13C= (n.2762-13C=)
c.2120-13C= (n.2120-13C=)
n.3545-13C=
n.3G=
10g.71709085C>TCA5544481CDH23c.3107-13C>T (n.3107-13C>T)
c.2538-13C>T
c.3122-13C>T (n.3122-13C>T)
c.1882-13C>T
c.3302-13C>T (n.3302-13C>T)
c.3236-13C>T (n.3236-13C>T)
c.3296-13C>T (n.3296-13C>T)
c.3242-13C>T (n.3242-13C>T)
c.3167-13C>T (n.3167-13C>T)
c.2762-13C>T (n.2762-13C>T)
c.2120-13C>T (n.2120-13C>T)
n.3545-13C>T
n.3G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709087_71709089delCA2609546705CDH23c.3107-11_3107-9del (n.3107-11_3107-9del)
c.2538-11_2538-9del
c.3122-11_3122-9del (n.3122-11_3122-9del)
c.1882-11_1882-9del
c.3302-11_3302-9del (n.3302-11_3302-9del)
c.3236-11_3236-9del (n.3236-11_3236-9del)
c.3296-11_3296-9del (n.3296-11_3296-9del)
c.3242-11_3242-9del (n.3242-11_3242-9del)
c.3167-11_3167-9del (n.3167-11_3167-9del)
c.2762-11_2762-9del (n.2762-11_2762-9del)
c.2120-11_2120-9del (n.2120-11_2120-9del)
n.3545-11_3545-9del
 ClinVar gnomAD v4
10g.71709089C>ACA2609546706CDH23c.3107-9C>A (n.3107-9C>A)
c.2538-9C>A
c.3122-9C>A (n.3122-9C>A)
c.1882-9C>A
c.3302-9C>A (n.3302-9C>A)
c.3236-9C>A (n.3236-9C>A)
c.3296-9C>A (n.3296-9C>A)
c.3242-9C>A (n.3242-9C>A)
c.3167-9C>A (n.3167-9C>A)
c.2762-9C>A (n.2762-9C>A)
c.2120-9C>A (n.2120-9C>A)
n.3545-9C>A
 gnomAD v4
10g.71709092C>GCA2739275791CDH23c.3107-6C>G (n.3107-6C>G)
c.2538-6C>G
c.3122-6C>G (n.3122-6C>G)
c.1882-6C>G
c.3302-6C>G (n.3302-6C>G)
c.3236-6C>G (n.3236-6C>G)
c.3296-6C>G (n.3296-6C>G)
c.3242-6C>G (n.3242-6C>G)
c.3167-6C>G (n.3167-6C>G)
c.2762-6C>G (n.2762-6C>G)
c.2120-6C>G (n.2120-6C>G)
n.3545-6C>G
 ClinVar
10g.71709093C>ACA2574574913CDH23c.3107-5C>A (n.3107-5C>A)
c.2538-5C>A
c.3122-5C>A (n.3122-5C>A)
c.1882-5C>A
c.3302-5C>A (n.3302-5C>A)
c.3236-5C>A (n.3236-5C>A)
c.3296-5C>A (n.3296-5C>A)
c.3242-5C>A (n.3242-5C>A)
c.3167-5C>A (n.3167-5C>A)
c.2762-5C>A (n.2762-5C>A)
c.2120-5C>A (n.2120-5C>A)
n.3545-5C>A
10g.71709096A>CCA377142952CDH23c.3107-2A>C (n.3107-2A>C)
c.2538-2A>C
c.3122-2A>C (n.3122-2A>C)
c.1882-2A>C
c.3302-2A>C (n.3302-2A>C)
c.3236-2A>C (n.3236-2A>C)
c.3296-2A>C (n.3296-2A>C)
c.3242-2A>C (n.3242-2A>C)
c.3167-2A>C (n.3167-2A>C)
c.2762-2A>C (n.2762-2A>C)
c.2120-2A>C (n.2120-2A>C)
n.3545-2A>C
10g.71709096A>GCA377142943CDH23c.3107-2A>G (n.3107-2A>G)
c.2538-2A>G
c.3122-2A>G (n.3122-2A>G)
c.1882-2A>G
c.3302-2A>G (n.3302-2A>G)
c.3236-2A>G (n.3236-2A>G)
c.3296-2A>G (n.3296-2A>G)
c.3242-2A>G (n.3242-2A>G)
c.3167-2A>G (n.3167-2A>G)
c.2762-2A>G (n.2762-2A>G)
c.2120-2A>G (n.2120-2A>G)
n.3545-2A>G
10g.71709096A>TCA377142946CDH23c.3107-2A>T (n.3107-2A>T)
c.2538-2A>T
c.3122-2A>T (n.3122-2A>T)
c.1882-2A>T
c.3302-2A>T (n.3302-2A>T)
c.3236-2A>T (n.3236-2A>T)
c.3296-2A>T (n.3296-2A>T)
c.3242-2A>T (n.3242-2A>T)
c.3167-2A>T (n.3167-2A>T)
c.2762-2A>T (n.2762-2A>T)
c.2120-2A>T (n.2120-2A>T)
n.3545-2A>T
10g.71709097G>ACA377142953CDH23c.3107-1G>A (n.3107-1G>A)
c.2538-1G>A
c.3122-1G>A (n.3122-1G>A)
c.1882-1G>A
c.3302-1G>A (n.3302-1G>A)
c.3236-1G>A (n.3236-1G>A)
c.3296-1G>A (n.3296-1G>A)
c.3242-1G>A (n.3242-1G>A)
c.3167-1G>A (n.3167-1G>A)
c.2762-1G>A (n.2762-1G>A)
c.2120-1G>A (n.2120-1G>A)
n.3545-1G>A
10g.71709097G>CCA377142954CDH23c.3107-1G>C (n.3107-1G>C)
c.2538-1G>C
c.3122-1G>C (n.3122-1G>C)
c.1882-1G>C
c.3302-1G>C (n.3302-1G>C)
c.3236-1G>C (n.3236-1G>C)
c.3296-1G>C (n.3296-1G>C)
c.3242-1G>C (n.3242-1G>C)
c.3167-1G>C (n.3167-1G>C)
c.2762-1G>C (n.2762-1G>C)
c.2120-1G>C (n.2120-1G>C)
n.3545-1G>C
10g.71709097G>TCA377142955CDH23c.3107-1G>T (n.3107-1G>T)
c.2538-1G>T
c.3122-1G>T (n.3122-1G>T)
c.1882-1G>T
c.3302-1G>T (n.3302-1G>T)
c.3236-1G>T (n.3236-1G>T)
c.3296-1G>T (n.3296-1G>T)
c.3242-1G>T (n.3242-1G>T)
c.3167-1G>T (n.3167-1G>T)
c.2762-1G>T (n.2762-1G>T)
c.2120-1G>T (n.2120-1G>T)
n.3545-1G>T
10g.71709098G>ACA377142956CDH23c.3107G>A (p.Gly1036Asp)
c.2538G>A
c.3122G>A (p.Gly1041Asp)
c.1882G>A
c.3302G>A (p.Gly1101Asp)
c.3236G>A (p.Gly1079Asp)
c.3296G>A (p.Gly1099Asp)
c.3242G>A (p.Gly1081Asp)
c.3167G>A (p.Gly1056Asp)
c.2762G>A (p.Gly921Asp)
c.2120G>A (p.Gly707Asp)
n.3545G>A
10g.71709098G>CCA377142957CDH23c.3107G>C (p.Gly1036Ala)
c.2538G>C
c.3122G>C (p.Gly1041Ala)
c.1882G>C
c.3302G>C (p.Gly1101Ala)
c.3236G>C (p.Gly1079Ala)
c.3296G>C (p.Gly1099Ala)
c.3242G>C (p.Gly1081Ala)
c.3167G>C (p.Gly1056Ala)
c.2762G>C (p.Gly921Ala)
c.2120G>C (p.Gly707Ala)
n.3545G>C
10g.71709098G>TCA377142959CDH23c.3107G>T (p.Gly1036Val)
c.2538G>T
c.3122G>T (p.Gly1041Val)
c.1882G>T
c.3302G>T (p.Gly1101Val)
c.3236G>T (p.Gly1079Val)
c.3296G>T (p.Gly1099Val)
c.3242G>T (p.Gly1081Val)
c.3167G>T (p.Gly1056Val)
c.2762G>T (p.Gly921Val)
c.2120G>T (p.Gly707Val)
n.3545G>T
10g.71709099T>ACA470062340CDH23c.3108T>A (p.Gly1036=)
c.2539T>A
c.3123T>A (p.Gly1041=)
c.1883T>A
c.3303T>A (p.Gly1101=)
c.3237T>A (p.Gly1079=)
c.3297T>A (p.Gly1099=)
c.3243T>A (p.Gly1081=)
c.3168T>A (p.Gly1056=)
c.2763T>A (p.Gly921=)
c.2121T>A (p.Gly707=)
n.3546T>A
10g.71709099T>CCA470062341CDH23c.3108T>C (p.Gly1036=)
c.2539T>C
c.3123T>C (p.Gly1041=)
c.1883T>C
c.3303T>C (p.Gly1101=)
c.3237T>C (p.Gly1079=)
c.3297T>C (p.Gly1099=)
c.3243T>C (p.Gly1081=)
c.3168T>C (p.Gly1056=)
c.2763T>C (p.Gly921=)
c.2121T>C (p.Gly707=)
n.3546T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71709099T>GCA470062342CDH23c.3108T>G (p.Gly1036=)
c.2539T>G
c.3123T>G (p.Gly1041=)
c.1883T>G
c.3303T>G (p.Gly1101=)
c.3237T>G (p.Gly1079=)
c.3297T>G (p.Gly1099=)
c.3243T>G (p.Gly1081=)
c.3168T>G (p.Gly1056=)
c.2763T>G (p.Gly921=)
c.2121T>G (p.Gly707=)
n.3546T>G
10g.71709099T=CA1918840717CDH23c.3108T= (p.Gly1036=)
c.2539T=
c.3123T= (p.Gly1041=)
c.1883T=
c.3303T= (p.Gly1101=)
c.3237T= (p.Gly1079=)
c.3297T= (p.Gly1099=)
c.3243T= (p.Gly1081=)
c.3168T= (p.Gly1056=)
c.2763T= (p.Gly921=)
c.2121T= (p.Gly707=)
n.3546T=
10g.71709100G>ACA10632002CDH23c.3109G>A (p.Gly1037Ser)
c.2540G>A
c.3124G>A (p.Gly1042Ser)
c.1884G>A
c.3304G>A (p.Gly1102Ser)
c.3238G>A (p.Gly1080Ser)
c.3298G>A (p.Gly1100Ser)
c.3244G>A (p.Gly1082Ser)
c.3169G>A (p.Gly1057Ser)
c.2764G>A (p.Gly922Ser)
c.2122G>A (p.Gly708Ser)
n.3547G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71709100G>CCA377142962CDH23c.3109G>C (p.Gly1037Arg)
c.2540G>C
c.3124G>C (p.Gly1042Arg)
c.1884G>C
c.3304G>C (p.Gly1102Arg)
c.3238G>C (p.Gly1080Arg)
c.3298G>C (p.Gly1100Arg)
c.3244G>C (p.Gly1082Arg)
c.3169G>C (p.Gly1057Arg)
c.2764G>C (p.Gly922Arg)
c.2122G>C (p.Gly708Arg)
n.3547G>C
10g.71709100G=CA1918840718CDH23c.3109G= (p.Gly1037=)
c.2540G=
c.3124G= (p.Gly1042=)
c.1884G=
c.3304G= (p.Gly1102=)
c.3238G= (p.Gly1080=)
c.3298G= (p.Gly1100=)
c.3244G= (p.Gly1082=)
c.3169G= (p.Gly1057=)
c.2764G= (p.Gly922=)
c.2122G= (p.Gly708=)
n.3547G=
10g.71709100G>TCA377142965CDH23c.3109G>T (p.Gly1037Cys)
c.2540G>T
c.3124G>T (p.Gly1042Cys)
c.1884G>T
c.3304G>T (p.Gly1102Cys)
c.3238G>T (p.Gly1080Cys)
c.3298G>T (p.Gly1100Cys)
c.3244G>T (p.Gly1082Cys)
c.3169G>T (p.Gly1057Cys)
c.2764G>T (p.Gly922Cys)
c.2122G>T (p.Gly708Cys)
n.3547G>T
 gnomAD v4
10g.71709101G>ACA377142969CDH23c.3110G>A (p.Gly1037Asp)
c.2541G>A
c.3125G>A (p.Gly1042Asp)
c.1885G>A
c.3305G>A (p.Gly1102Asp)
c.3239G>A (p.Gly1080Asp)
c.3299G>A (p.Gly1100Asp)
c.3245G>A (p.Gly1082Asp)
c.3170G>A (p.Gly1057Asp)
c.2765G>A (p.Gly922Asp)
c.2123G>A (p.Gly708Asp)
n.3548G>A
10g.71709101G>CCA377142970CDH23c.3110G>C (p.Gly1037Ala)
c.2541G>C
c.3125G>C (p.Gly1042Ala)
c.1885G>C
c.3305G>C (p.Gly1102Ala)
c.3239G>C (p.Gly1080Ala)
c.3299G>C (p.Gly1100Ala)
c.3245G>C (p.Gly1082Ala)
c.3170G>C (p.Gly1057Ala)
c.2765G>C (p.Gly922Ala)
c.2123G>C (p.Gly708Ala)
n.3548G>C
10g.71709101G>TCA377142974CDH23c.3110G>T (p.Gly1037Val)
c.2541G>T
c.3125G>T (p.Gly1042Val)
c.1885G>T
c.3305G>T (p.Gly1102Val)
c.3239G>T (p.Gly1080Val)
c.3299G>T (p.Gly1100Val)
c.3245G>T (p.Gly1082Val)
c.3170G>T (p.Gly1057Val)
c.2765G>T (p.Gly922Val)
c.2123G>T (p.Gly708Val)
n.3548G>T
10g.71709102C>ACA470062344CDH23c.3111C>A (p.Gly1037=)
c.2542C>A
c.3126C>A (p.Gly1042=)
c.1886C>A
c.3306C>A (p.Gly1102=)
c.3240C>A (p.Gly1080=)
c.3300C>A (p.Gly1100=)
c.3246C>A (p.Gly1082=)
c.3171C>A (p.Gly1057=)
c.2766C>A (p.Gly922=)
c.2124C>A (p.Gly708=)
n.3549C>A
10g.71709102C>GCA470062347CDH23c.3111C>G (p.Gly1037=)
c.2542C>G
c.3126C>G (p.Gly1042=)
c.1886C>G
c.3306C>G (p.Gly1102=)
c.3240C>G (p.Gly1080=)
c.3300C>G (p.Gly1100=)
c.3246C>G (p.Gly1082=)
c.3171C>G (p.Gly1057=)
c.2766C>G (p.Gly922=)
c.2124C>G (p.Gly708=)
n.3549C>G
10g.71709102C>TCA470062349CDH23c.3111C>T (p.Gly1037=)
c.2542C>T
c.3126C>T (p.Gly1042=)
c.1886C>T
c.3306C>T (p.Gly1102=)
c.3240C>T (p.Gly1080=)
c.3300C>T (p.Gly1100=)
c.3246C>T (p.Gly1082=)
c.3171C>T (p.Gly1057=)
c.2766C>T (p.Gly922=)
c.2124C>T (p.Gly708=)
n.3549C>T
10g.71709103A=CA1918840719CDH23c.3112A= (p.Asn1038=)
c.2543A=
c.3127A= (p.Asn1043=)
c.1887A=
c.3307A= (p.Asn1103=)
c.3241A= (p.Asn1081=)
c.3301A= (p.Asn1101=)
c.3247A= (p.Asn1083=)
c.3172A= (p.Asn1058=)
c.2767A= (p.Asn923=)
c.2125A= (p.Asn709=)
n.3550A=
10g.71709103A>CCA377142986CDH23c.3112A>C (p.Asn1038His)
c.2543A>C
c.3127A>C (p.Asn1043His)
c.1887A>C
c.3307A>C (p.Asn1103His)
c.3241A>C (p.Asn1081His)
c.3301A>C (p.Asn1101His)
c.3247A>C (p.Asn1083His)
c.3172A>C (p.Asn1058His)
c.2767A>C (p.Asn923His)
c.2125A>C (p.Asn709His)
n.3550A>C
 gnomAD v4
10g.71709103A>GCA209462001CDH23c.3112A>G (p.Asn1038Asp)
c.2543A>G
c.3127A>G (p.Asn1043Asp)
c.1887A>G
c.3307A>G (p.Asn1103Asp)
c.3241A>G (p.Asn1081Asp)
c.3301A>G (p.Asn1101Asp)
c.3247A>G (p.Asn1083Asp)
c.3172A>G (p.Asn1058Asp)
c.2767A>G (p.Asn923Asp)
c.2125A>G (p.Asn709Asp)
n.3550A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709103A>TCA377142976CDH23c.3112A>T (p.Asn1038Tyr)
c.2543A>T
c.3127A>T (p.Asn1043Tyr)
c.1887A>T
c.3307A>T (p.Asn1103Tyr)
c.3241A>T (p.Asn1081Tyr)
c.3301A>T (p.Asn1101Tyr)
c.3247A>T (p.Asn1083Tyr)
c.3172A>T (p.Asn1058Tyr)
c.2767A>T (p.Asn923Tyr)
c.2125A>T (p.Asn709Tyr)
n.3550A>T
10g.71709104delCA2574574914CDH23c.3113del (p.Asn1038ThrfsTer15)
c.2544del
c.3128del (p.Asn1043ThrfsTer15)
c.1888del
c.3308del (p.Asn1103ThrfsTer15)
c.3242del (p.Asn1081ThrfsTer15)
c.3302del (p.Asn1101ThrfsTer15)
c.3248del (p.Asn1083ThrfsTer15)
c.3173del (p.Asn1058ThrfsTer15)
c.2768del (p.Asn923ThrfsTer15)
c.2126del (p.Asn709ThrfsTer15)
n.3551del
10g.71709104A=CA1918840720CDH23c.3113A= (p.Asn1038=)
c.2544A=
c.3128A= (p.Asn1043=)
c.1888A=
c.3308A= (p.Asn1103=)
c.3242A= (p.Asn1081=)
c.3302A= (p.Asn1101=)
c.3248A= (p.Asn1083=)
c.3173A= (p.Asn1058=)
c.2768A= (p.Asn923=)
c.2126A= (p.Asn709=)
n.3551A=
10g.71709104A>CCA377142995CDH23c.3113A>C (p.Asn1038Thr)
c.2544A>C
c.3128A>C (p.Asn1043Thr)
c.1888A>C
c.3308A>C (p.Asn1103Thr)
c.3242A>C (p.Asn1081Thr)
c.3302A>C (p.Asn1101Thr)
c.3248A>C (p.Asn1083Thr)
c.3173A>C (p.Asn1058Thr)
c.2768A>C (p.Asn923Thr)
c.2126A>C (p.Asn709Thr)
n.3551A>C
10g.71709104A>GCA5544483CDH23c.3113A>G (p.Asn1038Ser)
c.2544A>G
c.3128A>G (p.Asn1043Ser)
c.1888A>G
c.3308A>G (p.Asn1103Ser)
c.3242A>G (p.Asn1081Ser)
c.3302A>G (p.Asn1101Ser)
c.3248A>G (p.Asn1083Ser)
c.3173A>G (p.Asn1058Ser)
c.2768A>G (p.Asn923Ser)
c.2126A>G (p.Asn709Ser)
n.3551A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709104A>TCA377142992CDH23c.3113A>T (p.Asn1038Ile)
c.2544A>T
c.3128A>T (p.Asn1043Ile)
c.1888A>T
c.3308A>T (p.Asn1103Ile)
c.3242A>T (p.Asn1081Ile)
c.3302A>T (p.Asn1101Ile)
c.3248A>T (p.Asn1083Ile)
c.3173A>T (p.Asn1058Ile)
c.2768A>T (p.Asn923Ile)
c.2126A>T (p.Asn709Ile)
n.3551A>T
 dbSNP
10g.71709105C>ACA5544485CDH23c.3114C>A (p.Asn1038Lys)
c.2545C>A
c.3129C>A (p.Asn1043Lys)
c.1889C>A
c.3309C>A (p.Asn1103Lys)
c.3243C>A (p.Asn1081Lys)
c.3303C>A (p.Asn1101Lys)
c.3249C>A (p.Asn1083Lys)
c.3174C>A (p.Asn1058Lys)
c.2769C>A (p.Asn923Lys)
c.2127C>A (p.Asn709Lys)
n.3552C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709105C=CA1918840722CDH23c.3114C= (p.Asn1038=)
c.2545C=
c.3129C= (p.Asn1043=)
c.1889C=
c.3309C= (p.Asn1103=)
c.3243C= (p.Asn1081=)
c.3303C= (p.Asn1101=)
c.3249C= (p.Asn1083=)
c.3174C= (p.Asn1058=)
c.2769C= (p.Asn923=)
c.2127C= (p.Asn709=)
n.3552C=
10g.71709105C>GCA377142999CDH23c.3114C>G (p.Asn1038Lys)
c.2545C>G
c.3129C>G (p.Asn1043Lys)
c.1889C>G
c.3309C>G (p.Asn1103Lys)
c.3243C>G (p.Asn1081Lys)
c.3303C>G (p.Asn1101Lys)
c.3249C>G (p.Asn1083Lys)
c.3174C>G (p.Asn1058Lys)
c.2769C>G (p.Asn923Lys)
c.2127C>G (p.Asn709Lys)
n.3552C>G
10g.71709105C>TCA5544484CDH23c.3114C>T (p.Asn1038=)
c.2545C>T
c.3129C>T (p.Asn1043=)
c.1889C>T
c.3309C>T (p.Asn1103=)
c.3243C>T (p.Asn1081=)
c.3303C>T (p.Asn1101=)
c.3249C>T (p.Asn1083=)
c.3174C>T (p.Asn1058=)
c.2769C>T (p.Asn923=)
c.2127C>T (p.Asn709=)
n.3552C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709106G>ACA5544486CDH23c.3115G>A (p.Val1039Met)
c.2546G>A
c.3130G>A (p.Val1044Met)
c.1890G>A
c.3310G>A (p.Val1104Met)
c.3244G>A (p.Val1082Met)
c.3304G>A (p.Val1102Met)
c.3250G>A (p.Val1084Met)
c.3175G>A (p.Val1059Met)
c.2770G>A (p.Val924Met)
c.2128G>A (p.Val710Met)
n.3553G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709106G>CCA377143002CDH23c.3115G>C (p.Val1039Leu)
c.2546G>C
c.3130G>C (p.Val1044Leu)
c.1890G>C
c.3310G>C (p.Val1104Leu)
c.3244G>C (p.Val1082Leu)
c.3304G>C (p.Val1102Leu)
c.3250G>C (p.Val1084Leu)
c.3175G>C (p.Val1059Leu)
c.2770G>C (p.Val924Leu)
c.2128G>C (p.Val710Leu)
n.3553G>C
 dbSNP
10g.71709106G=CA1918840725CDH23c.3115G= (p.Val1039=)
c.2546G=
c.3130G= (p.Val1044=)
c.1890G=
c.3310G= (p.Val1104=)
c.3244G= (p.Val1082=)
c.3304G= (p.Val1102=)
c.3250G= (p.Val1084=)
c.3175G= (p.Val1059=)
c.2770G= (p.Val924=)
c.2128G= (p.Val710=)
n.3553G=
10g.71709106G>TCA377143003CDH23c.3115G>T (p.Val1039Leu)
c.2546G>T
c.3130G>T (p.Val1044Leu)
c.1890G>T
c.3310G>T (p.Val1104Leu)
c.3244G>T (p.Val1082Leu)
c.3304G>T (p.Val1102Leu)
c.3250G>T (p.Val1084Leu)
c.3175G>T (p.Val1059Leu)
c.2770G>T (p.Val924Leu)
c.2128G>T (p.Val710Leu)
n.3553G>T
10g.71709107T>ACA377143004CDH23c.3116T>A (p.Val1039Glu)
c.2547T>A
c.3131T>A (p.Val1044Glu)
c.1891T>A
c.3311T>A (p.Val1104Glu)
c.3245T>A (p.Val1082Glu)
c.3305T>A (p.Val1102Glu)
c.3251T>A (p.Val1084Glu)
c.3176T>A (p.Val1059Glu)
c.2771T>A (p.Val924Glu)
c.2129T>A (p.Val710Glu)
n.3554T>A
10g.71709107T>CCA377143006CDH23c.3116T>C (p.Val1039Ala)
c.2547T>C
c.3131T>C (p.Val1044Ala)
c.1891T>C
c.3311T>C (p.Val1104Ala)
c.3245T>C (p.Val1082Ala)
c.3305T>C (p.Val1102Ala)
c.3251T>C (p.Val1084Ala)
c.3176T>C (p.Val1059Ala)
c.2771T>C (p.Val924Ala)
c.2129T>C (p.Val710Ala)
n.3554T>C
10g.71709107T>GCA377143005CDH23c.3116T>G (p.Val1039Gly)
c.2547T>G
c.3131T>G (p.Val1044Gly)
c.1891T>G
c.3311T>G (p.Val1104Gly)
c.3245T>G (p.Val1082Gly)
c.3305T>G (p.Val1102Gly)
c.3251T>G (p.Val1084Gly)
c.3176T>G (p.Val1059Gly)
c.2771T>G (p.Val924Gly)
c.2129T>G (p.Val710Gly)
n.3554T>G
10g.71709108G>ACA470062355CDH23c.3117G>A (p.Val1039=)
c.2548G>A
c.3132G>A (p.Val1044=)
c.1892G>A
c.3312G>A (p.Val1104=)
c.3246G>A (p.Val1082=)
c.3306G>A (p.Val1102=)
c.3252G>A (p.Val1084=)
c.3177G>A (p.Val1059=)
c.2772G>A (p.Val924=)
c.2130G>A (p.Val710=)
n.3555G>A
 COSMIC COSMIC
10g.71709108G>CCA470062354CDH23c.3117G>C (p.Val1039=)
c.2548G>C
c.3132G>C (p.Val1044=)
c.1892G>C
c.3312G>C (p.Val1104=)
c.3246G>C (p.Val1082=)
c.3306G>C (p.Val1102=)
c.3252G>C (p.Val1084=)
c.3177G>C (p.Val1059=)
c.2772G>C (p.Val924=)
c.2130G>C (p.Val710=)
n.3555G>C
10g.71709108G=CA1918840750CDH23c.3117G= (p.Val1039=)
c.2548G=
c.3132G= (p.Val1044=)
c.1892G=
c.3312G= (p.Val1104=)
c.3246G= (p.Val1082=)
c.3306G= (p.Val1102=)
c.3252G= (p.Val1084=)
c.3177G= (p.Val1059=)
c.2772G= (p.Val924=)
c.2130G= (p.Val710=)
n.3555G=
10g.71709108G>TCA209462036CDH23c.3117G>T (p.Val1039=)
c.2548G>T
c.3132G>T (p.Val1044=)
c.1892G>T
c.3312G>T (p.Val1104=)
c.3246G>T (p.Val1082=)
c.3306G>T (p.Val1102=)
c.3252G>T (p.Val1084=)
c.3177G>T (p.Val1059=)
c.2772G>T (p.Val924=)
c.2130G>T (p.Val710=)
n.3555G>T
 dbSNP
10g.71709109G>ACA377143009CDH23c.3118G>A (p.Asp1040Asn)
c.2549G>A
c.3133G>A (p.Asp1045Asn)
c.1893G>A
c.3313G>A (p.Asp1105Asn)
c.3247G>A (p.Asp1083Asn)
c.3307G>A (p.Asp1103Asn)
c.3253G>A (p.Asp1085Asn)
c.3178G>A (p.Asp1060Asn)
c.2773G>A (p.Asp925Asn)
c.2131G>A (p.Asp711Asn)
n.3556G>A
 gnomAD v4
10g.71709109G>CCA377143012CDH23c.3118G>C (p.Asp1040His)
c.2549G>C
c.3133G>C (p.Asp1045His)
c.1893G>C
c.3313G>C (p.Asp1105His)
c.3247G>C (p.Asp1083His)
c.3307G>C (p.Asp1103His)
c.3253G>C (p.Asp1085His)
c.3178G>C (p.Asp1060His)
c.2773G>C (p.Asp925His)
c.2131G>C (p.Asp711His)
n.3556G>C
10g.71709109G=CA1918840754CDH23c.3118G= (p.Asp1040=)
c.2549G=
c.3133G= (p.Asp1045=)
c.1893G=
c.3313G= (p.Asp1105=)
c.3247G= (p.Asp1083=)
c.3307G= (p.Asp1103=)
c.3253G= (p.Asp1085=)
c.3178G= (p.Asp1060=)
c.2773G= (p.Asp925=)
c.2131G= (p.Asp711=)
n.3556G=
10g.71709109G>TCA5544487CDH23c.3118G>T (p.Asp1040Tyr)
c.2549G>T
c.3133G>T (p.Asp1045Tyr)
c.1893G>T
c.3313G>T (p.Asp1105Tyr)
c.3247G>T (p.Asp1083Tyr)
c.3307G>T (p.Asp1103Tyr)
c.3253G>T (p.Asp1085Tyr)
c.3178G>T (p.Asp1060Tyr)
c.2773G>T (p.Asp925Tyr)
c.2131G>T (p.Asp711Tyr)
n.3556G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709110A=CA1918840757CDH23c.3119A= (p.Asp1040=)
c.2550A=
c.3134A= (p.Asp1045=)
c.1894A=
c.3314A= (p.Asp1105=)
c.3248A= (p.Asp1083=)
c.3308A= (p.Asp1103=)
c.3254A= (p.Asp1085=)
c.3179A= (p.Asp1060=)
c.2774A= (p.Asp925=)
c.2132A= (p.Asp711=)
n.3557A=
10g.71709110A>CCA377143015CDH23c.3119A>C (p.Asp1040Ala)
c.2550A>C
c.3134A>C (p.Asp1045Ala)
c.1894A>C
c.3314A>C (p.Asp1105Ala)
c.3248A>C (p.Asp1083Ala)
c.3308A>C (p.Asp1103Ala)
c.3254A>C (p.Asp1085Ala)
c.3179A>C (p.Asp1060Ala)
c.2774A>C (p.Asp925Ala)
c.2132A>C (p.Asp711Ala)
n.3557A>C
10g.71709110A>GCA377143018CDH23c.3119A>G (p.Asp1040Gly)
c.2550A>G
c.3134A>G (p.Asp1045Gly)
c.1894A>G
c.3314A>G (p.Asp1105Gly)
c.3248A>G (p.Asp1083Gly)
c.3308A>G (p.Asp1103Gly)
c.3254A>G (p.Asp1085Gly)
c.3179A>G (p.Asp1060Gly)
c.2774A>G (p.Asp925Gly)
c.2132A>G (p.Asp711Gly)
n.3557A>G
 dbSNP
10g.71709110A>TCA377143017CDH23c.3119A>T (p.Asp1040Val)
c.2550A>T
c.3134A>T (p.Asp1045Val)
c.1894A>T
c.3314A>T (p.Asp1105Val)
c.3248A>T (p.Asp1083Val)
c.3308A>T (p.Asp1103Val)
c.3254A>T (p.Asp1085Val)
c.3179A>T (p.Asp1060Val)
c.2774A>T (p.Asp925Val)
c.2132A>T (p.Asp711Val)
n.3557A>T
10g.71709111T>ACA377143020CDH23c.3120T>A (p.Asp1040Glu)
c.2551T>A
c.3135T>A (p.Asp1045Glu)
c.1895T>A
c.3315T>A (p.Asp1105Glu)
c.3249T>A (p.Asp1083Glu)
c.3309T>A (p.Asp1103Glu)
c.3255T>A (p.Asp1085Glu)
c.3180T>A (p.Asp1060Glu)
c.2775T>A (p.Asp925Glu)
c.2133T>A (p.Asp711Glu)
n.3558T>A
10g.71709111T>CCA470062356CDH23c.3120T>C (p.Asp1040=)
c.2551T>C
c.3135T>C (p.Asp1045=)
c.1895T>C
c.3315T>C (p.Asp1105=)
c.3249T>C (p.Asp1083=)
c.3309T>C (p.Asp1103=)
c.3255T>C (p.Asp1085=)
c.3180T>C (p.Asp1060=)
c.2775T>C (p.Asp925=)
c.2133T>C (p.Asp711=)
n.3558T>C
10g.71709111T>GCA377143023CDH23c.3120T>G (p.Asp1040Glu)
c.2551T>G
c.3135T>G (p.Asp1045Glu)
c.1895T>G
c.3315T>G (p.Asp1105Glu)
c.3249T>G (p.Asp1083Glu)
c.3309T>G (p.Asp1103Glu)
c.3255T>G (p.Asp1085Glu)
c.3180T>G (p.Asp1060Glu)
c.2775T>G (p.Asp925Glu)
c.2133T>G (p.Asp711Glu)
n.3558T>G
10g.71709112G>ACA377143026CDH23c.3121G>A (p.Gly1041Arg)
c.2552G>A
c.3136G>A (p.Gly1046Arg)
c.1896G>A
c.3316G>A (p.Gly1106Arg)
c.3250G>A (p.Gly1084Arg)
c.3310G>A (p.Gly1104Arg)
c.3256G>A (p.Gly1086Arg)
c.3181G>A (p.Gly1061Arg)
c.2776G>A (p.Gly926Arg)
c.2134G>A (p.Gly712Arg)
n.3559G>A
 ClinVar
10g.71709112G>CCA377143029CDH23c.3121G>C (p.Gly1041Arg)
c.2552G>C
c.3136G>C (p.Gly1046Arg)
c.1896G>C
c.3316G>C (p.Gly1106Arg)
c.3250G>C (p.Gly1084Arg)
c.3310G>C (p.Gly1104Arg)
c.3256G>C (p.Gly1086Arg)
c.3181G>C (p.Gly1061Arg)
c.2776G>C (p.Gly926Arg)
c.2134G>C (p.Gly712Arg)
n.3559G>C
10g.71709112G>TCA377143030CDH23c.3121G>T (p.Gly1041Trp)
c.2552G>T
c.3136G>T (p.Gly1046Trp)
c.1896G>T
c.3316G>T (p.Gly1106Trp)
c.3250G>T (p.Gly1084Trp)
c.3310G>T (p.Gly1104Trp)
c.3256G>T (p.Gly1086Trp)
c.3181G>T (p.Gly1061Trp)
c.2776G>T (p.Gly926Trp)
c.2134G>T (p.Gly712Trp)
n.3559G>T
10g.71709113G>ACA377143032CDH23c.3122G>A (p.Gly1041Glu)
c.2553G>A
c.3137G>A (p.Gly1046Glu)
c.1897G>A
c.3317G>A (p.Gly1106Glu)
c.3251G>A (p.Gly1084Glu)
c.3311G>A (p.Gly1104Glu)
c.3257G>A (p.Gly1086Glu)
c.3182G>A (p.Gly1061Glu)
c.2777G>A (p.Gly926Glu)
c.2135G>A (p.Gly712Glu)
n.3560G>A
 gnomAD v4
10g.71709113G>CCA377143033CDH23c.3122G>C (p.Gly1041Ala)
c.2553G>C
c.3137G>C (p.Gly1046Ala)
c.1897G>C
c.3317G>C (p.Gly1106Ala)
c.3251G>C (p.Gly1084Ala)
c.3311G>C (p.Gly1104Ala)
c.3257G>C (p.Gly1086Ala)
c.3182G>C (p.Gly1061Ala)
c.2777G>C (p.Gly926Ala)
c.2135G>C (p.Gly712Ala)
n.3560G>C
10g.71709113G>TCA377143034CDH23c.3122G>T (p.Gly1041Val)
c.2553G>T
c.3137G>T (p.Gly1046Val)
c.1897G>T
c.3317G>T (p.Gly1106Val)
c.3251G>T (p.Gly1084Val)
c.3311G>T (p.Gly1104Val)
c.3257G>T (p.Gly1086Val)
c.3182G>T (p.Gly1061Val)
c.2777G>T (p.Gly926Val)
c.2135G>T (p.Gly712Val)
n.3560G>T
10g.71709114G>ACA470062361CDH23c.3123G>A (p.Gly1041=)
c.2554G>A
c.3138G>A (p.Gly1046=)
c.1898G>A
c.3318G>A (p.Gly1106=)
c.3252G>A (p.Gly1084=)
c.3312G>A (p.Gly1104=)
c.3258G>A (p.Gly1086=)
c.3183G>A (p.Gly1061=)
c.2778G>A (p.Gly926=)
c.2136G>A (p.Gly712=)
n.3561G>A
10g.71709114G>CCA470062362CDH23c.3123G>C (p.Gly1041=)
c.2554G>C
c.3138G>C (p.Gly1046=)
c.1898G>C
c.3318G>C (p.Gly1106=)
c.3252G>C (p.Gly1084=)
c.3312G>C (p.Gly1104=)
c.3258G>C (p.Gly1086=)
c.3183G>C (p.Gly1061=)
c.2778G>C (p.Gly926=)
c.2136G>C (p.Gly712=)
n.3561G>C
10g.71709114G>TCA470062363CDH23c.3123G>T (p.Gly1041=)
c.2554G>T
c.3138G>T (p.Gly1046=)
c.1898G>T
c.3318G>T (p.Gly1106=)
c.3252G>T (p.Gly1084=)
c.3312G>T (p.Gly1104=)
c.3258G>T (p.Gly1086=)
c.3183G>T (p.Gly1061=)
c.2778G>T (p.Gly926=)
c.2136G>T (p.Gly712=)
n.3561G>T
10g.71709115A>CCA377143037CDH23c.3124A>C (p.Lys1042Gln)
c.2555A>C
c.3139A>C (p.Lys1047Gln)
c.1899A>C
c.3319A>C (p.Lys1107Gln)
c.3253A>C (p.Lys1085Gln)
c.3313A>C (p.Lys1105Gln)
c.3259A>C (p.Lys1087Gln)
c.3184A>C (p.Lys1062Gln)
c.2779A>C (p.Lys927Gln)
c.2137A>C (p.Lys713Gln)
n.3562A>C
10g.71709115A>GCA377143039CDH23c.3124A>G (p.Lys1042Glu)
c.2555A>G
c.3139A>G (p.Lys1047Glu)
c.1899A>G
c.3319A>G (p.Lys1107Glu)
c.3253A>G (p.Lys1085Glu)
c.3313A>G (p.Lys1105Glu)
c.3259A>G (p.Lys1087Glu)
c.3184A>G (p.Lys1062Glu)
c.2779A>G (p.Lys927Glu)
c.2137A>G (p.Lys713Glu)
n.3562A>G
10g.71709115A>TCA377143041CDH23c.3124A>T (p.Lys1042Ter)
c.2555A>T
c.3139A>T (p.Lys1047Ter)
c.1899A>T
c.3319A>T (p.Lys1107Ter)
c.3253A>T (p.Lys1085Ter)
c.3313A>T (p.Lys1105Ter)
c.3259A>T (p.Lys1087Ter)
c.3184A>T (p.Lys1062Ter)
c.2779A>T (p.Lys927Ter)
c.2137A>T (p.Lys713Ter)
n.3562A>T
10g.71709116A=CA1918840760CDH23c.3125A= (p.Lys1042=)
c.2556A=
c.3140A= (p.Lys1047=)
c.1900A=
c.3320A= (p.Lys1107=)
c.3254A= (p.Lys1085=)
c.3314A= (p.Lys1105=)
c.3260A= (p.Lys1087=)
c.3185A= (p.Lys1062=)
c.2780A= (p.Lys927=)
c.2138A= (p.Lys713=)
n.3563A=
10g.71709116A>CCA377143043CDH23c.3125A>C (p.Lys1042Thr)
c.2556A>C
c.3140A>C (p.Lys1047Thr)
c.1900A>C
c.3320A>C (p.Lys1107Thr)
c.3254A>C (p.Lys1085Thr)
c.3314A>C (p.Lys1105Thr)
c.3260A>C (p.Lys1087Thr)
c.3185A>C (p.Lys1062Thr)
c.2780A>C (p.Lys927Thr)
c.2138A>C (p.Lys713Thr)
n.3563A>C
 dbSNP
10g.71709116A>GCA377143047CDH23c.3125A>G (p.Lys1042Arg)
c.2556A>G
c.3140A>G (p.Lys1047Arg)
c.1900A>G
c.3320A>G (p.Lys1107Arg)
c.3254A>G (p.Lys1085Arg)
c.3314A>G (p.Lys1105Arg)
c.3260A>G (p.Lys1087Arg)
c.3185A>G (p.Lys1062Arg)
c.2780A>G (p.Lys927Arg)
c.2138A>G (p.Lys713Arg)
n.3563A>G
 dbSNP gnomAD v4
10g.71709116A>TCA377143045CDH23c.3125A>T (p.Lys1042Met)
c.2556A>T
c.3140A>T (p.Lys1047Met)
c.1900A>T
c.3320A>T (p.Lys1107Met)
c.3254A>T (p.Lys1085Met)
c.3314A>T (p.Lys1105Met)
c.3260A>T (p.Lys1087Met)
c.3185A>T (p.Lys1062Met)
c.2780A>T (p.Lys927Met)
c.2138A>T (p.Lys713Met)
n.3563A>T
 dbSNP gnomAD v4
10g.71709117G>ACA209462055CDH23c.3126G>A (p.Lys1042=)
c.2557G>A
c.3141G>A (p.Lys1047=)
c.1901G>A
c.3321G>A (p.Lys1107=)
c.3255G>A (p.Lys1085=)
c.3315G>A (p.Lys1105=)
c.3261G>A (p.Lys1087=)
c.3186G>A (p.Lys1062=)
c.2781G>A (p.Lys927=)
c.2139G>A (p.Lys713=)
n.3564G>A
 ClinVar dbSNP gnomAD v4
10g.71709117G>CCA377143050CDH23c.3126G>C (p.Lys1042Asn)
c.2557G>C
c.3141G>C (p.Lys1047Asn)
c.1901G>C
c.3321G>C (p.Lys1107Asn)
c.3255G>C (p.Lys1085Asn)
c.3315G>C (p.Lys1105Asn)
c.3261G>C (p.Lys1087Asn)
c.3186G>C (p.Lys1062Asn)
c.2781G>C (p.Lys927Asn)
c.2139G>C (p.Lys713Asn)
n.3564G>C
10g.71709117G=CA1918840767CDH23c.3126G= (p.Lys1042=)
c.2557G=
c.3141G= (p.Lys1047=)
c.1901G=
c.3321G= (p.Lys1107=)
c.3255G= (p.Lys1085=)
c.3315G= (p.Lys1105=)
c.3261G= (p.Lys1087=)
c.3186G= (p.Lys1062=)
c.2781G= (p.Lys927=)
c.2139G= (p.Lys713=)
n.3564G=
10g.71709117G>TCA377143053CDH23c.3126G>T (p.Lys1042Asn)
c.2557G>T
c.3141G>T (p.Lys1047Asn)
c.1901G>T
c.3321G>T (p.Lys1107Asn)
c.3255G>T (p.Lys1085Asn)
c.3315G>T (p.Lys1105Asn)
c.3261G>T (p.Lys1087Asn)
c.3186G>T (p.Lys1062Asn)
c.2781G>T (p.Lys927Asn)
c.2139G>T (p.Lys713Asn)
n.3564G>T
10g.71709118T>ACA377143055CDH23c.3127T>A (p.Phe1043Ile)
c.2558T>A
c.3142T>A (p.Phe1048Ile)
c.1902T>A
c.3322T>A (p.Phe1108Ile)
c.3256T>A (p.Phe1086Ile)
c.3316T>A (p.Phe1106Ile)
c.3262T>A (p.Phe1088Ile)
c.3187T>A (p.Phe1063Ile)
c.2782T>A (p.Phe928Ile)
c.2140T>A (p.Phe714Ile)
n.3565T>A
 gnomAD v4
10g.71709118T>CCA5544488CDH23c.3127T>C (p.Phe1043Leu)
c.2558T>C
c.3142T>C (p.Phe1048Leu)
c.1902T>C
c.3322T>C (p.Phe1108Leu)
c.3256T>C (p.Phe1086Leu)
c.3316T>C (p.Phe1106Leu)
c.3262T>C (p.Phe1088Leu)
c.3187T>C (p.Phe1063Leu)
c.2782T>C (p.Phe928Leu)
c.2140T>C (p.Phe714Leu)
n.3565T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709118T>GCA377143058CDH23c.3127T>G (p.Phe1043Val)
c.2558T>G
c.3142T>G (p.Phe1048Val)
c.1902T>G
c.3322T>G (p.Phe1108Val)
c.3256T>G (p.Phe1086Val)
c.3316T>G (p.Phe1106Val)
c.3262T>G (p.Phe1088Val)
c.3187T>G (p.Phe1063Val)
c.2782T>G (p.Phe928Val)
c.2140T>G (p.Phe714Val)
n.3565T>G
10g.71709118T=CA1918840770CDH23c.3127T= (p.Phe1043=)
c.2558T=
c.3142T= (p.Phe1048=)
c.1902T=
c.3322T= (p.Phe1108=)
c.3256T= (p.Phe1086=)
c.3316T= (p.Phe1106=)
c.3262T= (p.Phe1088=)
c.3187T= (p.Phe1063=)
c.2782T= (p.Phe928=)
c.2140T= (p.Phe714=)
n.3565T=
10g.71709119T>ACA377143060CDH23c.3128T>A (p.Phe1043Tyr)
c.2559T>A
c.3143T>A (p.Phe1048Tyr)
c.1903T>A
c.3323T>A (p.Phe1108Tyr)
c.3257T>A (p.Phe1086Tyr)
c.3317T>A (p.Phe1106Tyr)
c.3263T>A (p.Phe1088Tyr)
c.3188T>A (p.Phe1063Tyr)
c.2783T>A (p.Phe928Tyr)
c.2141T>A (p.Phe714Tyr)
n.3566T>A
10g.71709119T>CCA377143061CDH23c.3128T>C (p.Phe1043Ser)
c.2559T>C
c.3143T>C (p.Phe1048Ser)
c.1903T>C
c.3323T>C (p.Phe1108Ser)
c.3257T>C (p.Phe1086Ser)
c.3317T>C (p.Phe1106Ser)
c.3263T>C (p.Phe1088Ser)
c.3188T>C (p.Phe1063Ser)
c.2783T>C (p.Phe928Ser)
c.2141T>C (p.Phe714Ser)
n.3566T>C
10g.71709119T>GCA377143063CDH23c.3128T>G (p.Phe1043Cys)
c.2559T>G
c.3143T>G (p.Phe1048Cys)
c.1903T>G
c.3323T>G (p.Phe1108Cys)
c.3257T>G (p.Phe1086Cys)
c.3317T>G (p.Phe1106Cys)
c.3263T>G (p.Phe1088Cys)
c.3188T>G (p.Phe1063Cys)
c.2783T>G (p.Phe928Cys)
c.2141T>G (p.Phe714Cys)
n.3566T>G
10g.71709120C>ACA377143074CDH23c.3129C>A (p.Phe1043Leu)
c.2560C>A
c.3144C>A (p.Phe1048Leu)
c.1904C>A
c.3324C>A (p.Phe1108Leu)
c.3258C>A (p.Phe1086Leu)
c.3318C>A (p.Phe1106Leu)
c.3264C>A (p.Phe1088Leu)
c.3189C>A (p.Phe1063Leu)
c.2784C>A (p.Phe928Leu)
c.2142C>A (p.Phe714Leu)
n.3567C>A
10g.71709120C>GCA377143076CDH23c.3129C>G (p.Phe1043Leu)
c.2560C>G
c.3144C>G (p.Phe1048Leu)
c.1904C>G
c.3324C>G (p.Phe1108Leu)
c.3258C>G (p.Phe1086Leu)
c.3318C>G (p.Phe1106Leu)
c.3264C>G (p.Phe1088Leu)
c.3189C>G (p.Phe1063Leu)
c.2784C>G (p.Phe928Leu)
c.2142C>G (p.Phe714Leu)
n.3567C>G
10g.71709120C>TCA470062367CDH23c.3129C>T (p.Phe1043=)
c.2560C>T
c.3144C>T (p.Phe1048=)
c.1904C>T
c.3324C>T (p.Phe1108=)
c.3258C>T (p.Phe1086=)
c.3318C>T (p.Phe1106=)
c.3264C>T (p.Phe1088=)
c.3189C>T (p.Phe1063=)
c.2784C>T (p.Phe928=)
c.2142C>T (p.Phe714=)
n.3567C>T
 gnomAD v4
10g.71709121A=CA1918840774CDH23c.3130A= (p.Ser1044=)
c.2561A=
c.3145A= (p.Ser1049=)
c.1905A=
c.3325A= (p.Ser1109=)
c.3259A= (p.Ser1087=)
c.3319A= (p.Ser1107=)
c.3265A= (p.Ser1089=)
c.3190A= (p.Ser1064=)
c.2785A= (p.Ser929=)
c.2143A= (p.Ser715=)
n.3568A=
10g.71709121A>CCA377143079CDH23c.3130A>C (p.Ser1044Arg)
c.2561A>C
c.3145A>C (p.Ser1049Arg)
c.1905A>C
c.3325A>C (p.Ser1109Arg)
c.3259A>C (p.Ser1087Arg)
c.3319A>C (p.Ser1107Arg)
c.3265A>C (p.Ser1089Arg)
c.3190A>C (p.Ser1064Arg)
c.2785A>C (p.Ser929Arg)
c.2143A>C (p.Ser715Arg)
n.3568A>C
 gnomAD v4
10g.71709121A>GCA209462062CDH23c.3130A>G (p.Ser1044Gly)
c.2561A>G
c.3145A>G (p.Ser1049Gly)
c.1905A>G
c.3325A>G (p.Ser1109Gly)
c.3259A>G (p.Ser1087Gly)
c.3319A>G (p.Ser1107Gly)
c.3265A>G (p.Ser1089Gly)
c.3190A>G (p.Ser1064Gly)
c.2785A>G (p.Ser929Gly)
c.2143A>G (p.Ser715Gly)
n.3568A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709121A>TCA377143084CDH23c.3130A>T (p.Ser1044Cys)
c.2561A>T
c.3145A>T (p.Ser1049Cys)
c.1905A>T
c.3325A>T (p.Ser1109Cys)
c.3259A>T (p.Ser1087Cys)
c.3319A>T (p.Ser1107Cys)
c.3265A>T (p.Ser1089Cys)
c.3190A>T (p.Ser1064Cys)
c.2785A>T (p.Ser929Cys)
c.2143A>T (p.Ser715Cys)
n.3568A>T
 ClinVar dbSNP
10g.71709122G>ACA377143085CDH23c.3131G>A (p.Ser1044Asn)
c.2562G>A
c.3146G>A (p.Ser1049Asn)
c.1906G>A
c.3326G>A (p.Ser1109Asn)
c.3260G>A (p.Ser1087Asn)
c.3320G>A (p.Ser1107Asn)
c.3266G>A (p.Ser1089Asn)
c.3191G>A (p.Ser1064Asn)
c.2786G>A (p.Ser929Asn)
c.2144G>A (p.Ser715Asn)
n.3569G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709122G>CCA377143090CDH23c.3131G>C (p.Ser1044Thr)
c.2562G>C
c.3146G>C (p.Ser1049Thr)
c.1906G>C
c.3326G>C (p.Ser1109Thr)
c.3260G>C (p.Ser1087Thr)
c.3320G>C (p.Ser1107Thr)
c.3266G>C (p.Ser1089Thr)
c.3191G>C (p.Ser1064Thr)
c.2786G>C (p.Ser929Thr)
c.2144G>C (p.Ser715Thr)
n.3569G>C
10g.71709122G=CA1918840777CDH23c.3131G= (p.Ser1044=)
c.2562G=
c.3146G= (p.Ser1049=)
c.1906G=
c.3326G= (p.Ser1109=)
c.3260G= (p.Ser1087=)
c.3320G= (p.Ser1107=)
c.3266G= (p.Ser1089=)
c.3191G= (p.Ser1064=)
c.2786G= (p.Ser929=)
c.2144G= (p.Ser715=)
n.3569G=
10g.71709122G>TCA377143087CDH23c.3131G>T (p.Ser1044Ile)
c.2562G>T
c.3146G>T (p.Ser1049Ile)
c.1906G>T
c.3326G>T (p.Ser1109Ile)
c.3260G>T (p.Ser1087Ile)
c.3320G>T (p.Ser1107Ile)
c.3266G>T (p.Ser1089Ile)
c.3191G>T (p.Ser1064Ile)
c.2786G>T (p.Ser929Ile)
c.2144G>T (p.Ser715Ile)
n.3569G>T
10g.71709123C>ACA377143092CDH23c.3132C>A (p.Ser1044Arg)
c.2563C>A
c.3147C>A (p.Ser1049Arg)
c.1907C>A
c.3327C>A (p.Ser1109Arg)
c.3261C>A (p.Ser1087Arg)
c.3321C>A (p.Ser1107Arg)
c.3267C>A (p.Ser1089Arg)
c.3192C>A (p.Ser1064Arg)
c.2787C>A (p.Ser929Arg)
c.2145C>A (p.Ser715Arg)
n.3570C>A
10g.71709123C=CA1918840782CDH23c.3132C= (p.Ser1044=)
c.2563C=
c.3147C= (p.Ser1049=)
c.1907C=
c.3327C= (p.Ser1109=)
c.3261C= (p.Ser1087=)
c.3321C= (p.Ser1107=)
c.3267C= (p.Ser1089=)
c.3192C= (p.Ser1064=)
c.2787C= (p.Ser929=)
c.2145C= (p.Ser715=)
n.3570C=
10g.71709123C>GCA377143094CDH23c.3132C>G (p.Ser1044Arg)
c.2563C>G
c.3147C>G (p.Ser1049Arg)
c.1907C>G
c.3327C>G (p.Ser1109Arg)
c.3261C>G (p.Ser1087Arg)
c.3321C>G (p.Ser1107Arg)
c.3267C>G (p.Ser1089Arg)
c.3192C>G (p.Ser1064Arg)
c.2787C>G (p.Ser929Arg)
c.2145C>G (p.Ser715Arg)
n.3570C>G
10g.71709123C>TCA470062370CDH23c.3132C>T (p.Ser1044=)
c.2563C>T
c.3147C>T (p.Ser1049=)
c.1907C>T
c.3327C>T (p.Ser1109=)
c.3261C>T (p.Ser1087=)
c.3321C>T (p.Ser1107=)
c.3267C>T (p.Ser1089=)
c.3192C>T (p.Ser1064=)
c.2787C>T (p.Ser929=)
c.2145C>T (p.Ser715=)
n.3570C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71709124G>ACA5544489CDH23c.3133G>A (p.Val1045Met)
c.2564G>A
c.3148G>A (p.Val1050Met)
c.1908G>A
c.3328G>A (p.Val1110Met)
c.3262G>A (p.Val1088Met)
c.3322G>A (p.Val1108Met)
c.3268G>A (p.Val1090Met)
c.3193G>A (p.Val1065Met)
c.2788G>A (p.Val930Met)
c.2146G>A (p.Val716Met)
n.3571G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709124G>CCA377143098CDH23c.3133G>C (p.Val1045Leu)
c.2564G>C
c.3148G>C (p.Val1050Leu)
c.1908G>C
c.3328G>C (p.Val1110Leu)
c.3262G>C (p.Val1088Leu)
c.3322G>C (p.Val1108Leu)
c.3268G>C (p.Val1090Leu)
c.3193G>C (p.Val1065Leu)
c.2788G>C (p.Val930Leu)
c.2146G>C (p.Val716Leu)
n.3571G>C
 gnomAD v4
10g.71709124G=CA1918840790CDH23c.3133G= (p.Val1045=)
c.2564G=
c.3148G= (p.Val1050=)
c.1908G=
c.3328G= (p.Val1110=)
c.3262G= (p.Val1088=)
c.3322G= (p.Val1108=)
c.3268G= (p.Val1090=)
c.3193G= (p.Val1065=)
c.2788G= (p.Val930=)
c.2146G= (p.Val716=)
n.3571G=
10g.71709124G>TCA137358CDH23c.3133G>T (p.Val1045Leu)
c.2564G>T
c.3148G>T (p.Val1050Leu)
c.1908G>T
c.3328G>T (p.Val1110Leu)
c.3262G>T (p.Val1088Leu)
c.3322G>T (p.Val1108Leu)
c.3268G>T (p.Val1090Leu)
c.3193G>T (p.Val1065Leu)
c.2788G>T (p.Val930Leu)
c.2146G>T (p.Val716Leu)
n.3571G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709125T>ACA377143102CDH23c.3134T>A (p.Val1045Glu)
c.2565T>A
c.3149T>A (p.Val1050Glu)
c.1909T>A
c.3329T>A (p.Val1110Glu)
c.3263T>A (p.Val1088Glu)
c.3323T>A (p.Val1108Glu)
c.3269T>A (p.Val1090Glu)
c.3194T>A (p.Val1065Glu)
c.2789T>A (p.Val930Glu)
c.2147T>A (p.Val716Glu)
n.3572T>A
10g.71709125T>CCA209462074CDH23c.3134T>C (p.Val1045Ala)
c.2565T>C
c.3149T>C (p.Val1050Ala)
c.1909T>C
c.3329T>C (p.Val1110Ala)
c.3263T>C (p.Val1088Ala)
c.3323T>C (p.Val1108Ala)
c.3269T>C (p.Val1090Ala)
c.3194T>C (p.Val1065Ala)
c.2789T>C (p.Val930Ala)
c.2147T>C (p.Val716Ala)
n.3572T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71709125T>GCA377143106CDH23c.3134T>G (p.Val1045Gly)
c.2565T>G
c.3149T>G (p.Val1050Gly)
c.1909T>G
c.3329T>G (p.Val1110Gly)
c.3263T>G (p.Val1088Gly)
c.3323T>G (p.Val1108Gly)
c.3269T>G (p.Val1090Gly)
c.3194T>G (p.Val1065Gly)
c.2789T>G (p.Val930Gly)
c.2147T>G (p.Val716Gly)
n.3572T>G
10g.71709125T=CA1918840797CDH23c.3134T= (p.Val1045=)
c.2565T=
c.3149T= (p.Val1050=)
c.1909T=
c.3329T= (p.Val1110=)
c.3263T= (p.Val1088=)
c.3323T= (p.Val1108=)
c.3269T= (p.Val1090=)
c.3194T= (p.Val1065=)
c.2789T= (p.Val930=)
c.2147T= (p.Val716=)
n.3572T=
10g.71709126G>ACA470062371CDH23c.3135G>A (p.Val1045=)
c.2566G>A
c.3150G>A (p.Val1050=)
c.1910G>A
c.3330G>A (p.Val1110=)
c.3264G>A (p.Val1088=)
c.3324G>A (p.Val1108=)
c.3270G>A (p.Val1090=)
c.3195G>A (p.Val1065=)
c.2790G>A (p.Val930=)
c.2148G>A (p.Val716=)
n.3573G>A
10g.71709126G>CCA470062373CDH23c.3135G>C (p.Val1045=)
c.2566G>C
c.3150G>C (p.Val1050=)
c.1910G>C
c.3330G>C (p.Val1110=)
c.3264G>C (p.Val1088=)
c.3324G>C (p.Val1108=)
c.3270G>C (p.Val1090=)
c.3195G>C (p.Val1065=)
c.2790G>C (p.Val930=)
c.2148G>C (p.Val716=)
n.3573G>C
 ClinVar
10g.71709126G>TCA470062372CDH23c.3135G>T (p.Val1045=)
c.2566G>T
c.3150G>T (p.Val1050=)
c.1910G>T
c.3330G>T (p.Val1110=)
c.3264G>T (p.Val1088=)
c.3324G>T (p.Val1108=)
c.3270G>T (p.Val1090=)
c.3195G>T (p.Val1065=)
c.2790G>T (p.Val930=)
c.2148G>T (p.Val716=)
n.3573G>T
10g.71709127G>ACA377143110CDH23c.3136G>A (p.Gly1046Ser)
c.2567G>A
c.3151G>A (p.Gly1051Ser)
c.1911G>A
c.3331G>A (p.Gly1111Ser)
c.3265G>A (p.Gly1089Ser)
c.3325G>A (p.Gly1109Ser)
c.3271G>A (p.Gly1091Ser)
c.3196G>A (p.Gly1066Ser)
c.2791G>A (p.Gly931Ser)
c.2149G>A (p.Gly717Ser)
n.3574G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.71709127G>CCA5544490CDH23c.3136G>C (p.Gly1046Arg)
c.2567G>C
c.3151G>C (p.Gly1051Arg)
c.1911G>C
c.3331G>C (p.Gly1111Arg)
c.3265G>C (p.Gly1089Arg)
c.3325G>C (p.Gly1109Arg)
c.3271G>C (p.Gly1091Arg)
c.3196G>C (p.Gly1066Arg)
c.2791G>C (p.Gly931Arg)
c.2149G>C (p.Gly717Arg)
n.3574G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709127G=CA1918840801CDH23c.3136G= (p.Gly1046=)
c.2567G=
c.3151G= (p.Gly1051=)
c.1911G=
c.3331G= (p.Gly1111=)
c.3265G= (p.Gly1089=)
c.3325G= (p.Gly1109=)
c.3271G= (p.Gly1091=)
c.3196G= (p.Gly1066=)
c.2791G= (p.Gly931=)
c.2149G= (p.Gly717=)
n.3574G=
10g.71709127G>TCA209462090CDH23c.3136G>T (p.Gly1046Cys)
c.2567G>T
c.3151G>T (p.Gly1051Cys)
c.1911G>T
c.3331G>T (p.Gly1111Cys)
c.3265G>T (p.Gly1089Cys)
c.3325G>T (p.Gly1109Cys)
c.3271G>T (p.Gly1091Cys)
c.3196G>T (p.Gly1066Cys)
c.2791G>T (p.Gly931Cys)
c.2149G>T (p.Gly717Cys)
n.3574G>T
 dbSNP
10g.71709128G>ACA377143130CDH23c.3137G>A (p.Gly1046Asp)
c.2568G>A
c.3152G>A (p.Gly1051Asp)
c.1912G>A
c.3332G>A (p.Gly1111Asp)
c.3266G>A (p.Gly1089Asp)
c.3326G>A (p.Gly1109Asp)
c.3272G>A (p.Gly1091Asp)
c.3197G>A (p.Gly1066Asp)
c.2792G>A (p.Gly931Asp)
c.2150G>A (p.Gly717Asp)
n.3575G>A
10g.71709128G>CCA377143135CDH23c.3137G>C (p.Gly1046Ala)
c.2568G>C
c.3152G>C (p.Gly1051Ala)
c.1912G>C
c.3332G>C (p.Gly1111Ala)
c.3266G>C (p.Gly1089Ala)
c.3326G>C (p.Gly1109Ala)
c.3272G>C (p.Gly1091Ala)
c.3197G>C (p.Gly1066Ala)
c.2792G>C (p.Gly931Ala)
c.2150G>C (p.Gly717Ala)
n.3575G>C
 gnomAD v4
10g.71709128G>TCA377143127CDH23c.3137G>T (p.Gly1046Val)
c.2568G>T
c.3152G>T (p.Gly1051Val)
c.1912G>T
c.3332G>T (p.Gly1111Val)
c.3266G>T (p.Gly1089Val)
c.3326G>T (p.Gly1109Val)
c.3272G>T (p.Gly1091Val)
c.3197G>T (p.Gly1066Val)
c.2792G>T (p.Gly931Val)
c.2150G>T (p.Gly717Val)
n.3575G>T
10g.71709129T>ACA470062374CDH23c.3138T>A (p.Gly1046=)
c.2569T>A
c.3153T>A (p.Gly1051=)
c.1913T>A
c.3333T>A (p.Gly1111=)
c.3267T>A (p.Gly1089=)
c.3327T>A (p.Gly1109=)
c.3273T>A (p.Gly1091=)
c.3198T>A (p.Gly1066=)
c.2793T>A (p.Gly931=)
c.2151T>A (p.Gly717=)
n.3576T>A
10g.71709129T>CCA470062375CDH23c.3138T>C (p.Gly1046=)
c.2569T>C
c.3153T>C (p.Gly1051=)
c.1913T>C
c.3333T>C (p.Gly1111=)
c.3267T>C (p.Gly1089=)
c.3327T>C (p.Gly1109=)
c.3273T>C (p.Gly1091=)
c.3198T>C (p.Gly1066=)
c.2793T>C (p.Gly931=)
c.2151T>C (p.Gly717=)
n.3576T>C
 gnomAD v4
10g.71709129T>GCA470062376CDH23c.3138T>G (p.Gly1046=)
c.2569T>G
c.3153T>G (p.Gly1051=)
c.1913T>G
c.3333T>G (p.Gly1111=)
c.3267T>G (p.Gly1089=)
c.3327T>G (p.Gly1109=)
c.3273T>G (p.Gly1091=)
c.3198T>G (p.Gly1066=)
c.2793T>G (p.Gly931=)
c.2151T>G (p.Gly717=)
n.3576T>G
10g.71709130T>ACA377143137CDH23c.3139T>A (p.Tyr1047Asn)
c.2570T>A
c.3154T>A (p.Tyr1052Asn)
c.1914T>A
c.3334T>A (p.Tyr1112Asn)
c.3268T>A (p.Tyr1090Asn)
c.3328T>A (p.Tyr1110Asn)
c.3274T>A (p.Tyr1092Asn)
c.3199T>A (p.Tyr1067Asn)
c.2794T>A (p.Tyr932Asn)
c.2152T>A (p.Tyr718Asn)
n.3577T>A
10g.71709130T>CCA377143144CDH23c.3139T>C (p.Tyr1047His)
c.2570T>C
c.3154T>C (p.Tyr1052His)
c.1914T>C
c.3334T>C (p.Tyr1112His)
c.3268T>C (p.Tyr1090His)
c.3328T>C (p.Tyr1110His)
c.3274T>C (p.Tyr1092His)
c.3199T>C (p.Tyr1067His)
c.2794T>C (p.Tyr932His)
c.2152T>C (p.Tyr718His)
n.3577T>C
10g.71709130T>GCA377143147CDH23c.3139T>G (p.Tyr1047Asp)
c.2570T>G
c.3154T>G (p.Tyr1052Asp)
c.1914T>G
c.3334T>G (p.Tyr1112Asp)
c.3268T>G (p.Tyr1090Asp)
c.3328T>G (p.Tyr1110Asp)
c.3274T>G (p.Tyr1092Asp)
c.3199T>G (p.Tyr1067Asp)
c.2794T>G (p.Tyr932Asp)
c.2152T>G (p.Tyr718Asp)
n.3577T>G
10g.71709131A>CCA377143148CDH23c.3140A>C (p.Tyr1047Ser)
c.2571A>C
c.3155A>C (p.Tyr1052Ser)
c.1915A>C
c.3335A>C (p.Tyr1112Ser)
c.3269A>C (p.Tyr1090Ser)
c.3329A>C (p.Tyr1110Ser)
c.3275A>C (p.Tyr1092Ser)
c.3200A>C (p.Tyr1067Ser)
c.2795A>C (p.Tyr932Ser)
c.2153A>C (p.Tyr718Ser)
n.3578A>C
10g.71709131A>GCA377143151CDH23c.3140A>G (p.Tyr1047Cys)
c.2571A>G
c.3155A>G (p.Tyr1052Cys)
c.1915A>G
c.3335A>G (p.Tyr1112Cys)
c.3269A>G (p.Tyr1090Cys)
c.3329A>G (p.Tyr1110Cys)
c.3275A>G (p.Tyr1092Cys)
c.3200A>G (p.Tyr1067Cys)
c.2795A>G (p.Tyr932Cys)
c.2153A>G (p.Tyr718Cys)
n.3578A>G
10g.71709131A>TCA377143154CDH23c.3140A>T (p.Tyr1047Phe)
c.2571A>T
c.3155A>T (p.Tyr1052Phe)
c.1915A>T
c.3335A>T (p.Tyr1112Phe)
c.3269A>T (p.Tyr1090Phe)
c.3329A>T (p.Tyr1110Phe)
c.3275A>T (p.Tyr1092Phe)
c.3200A>T (p.Tyr1067Phe)
c.2795A>T (p.Tyr932Phe)
c.2153A>T (p.Tyr718Phe)
n.3578A>T
10g.71709132C>ACA377143160CDH23c.3141C>A (p.Tyr1047Ter)
c.2572C>A
c.3156C>A (p.Tyr1052Ter)
c.1916C>A
c.3336C>A (p.Tyr1112Ter)
c.3270C>A (p.Tyr1090Ter)
c.3330C>A (p.Tyr1110Ter)
c.3276C>A (p.Tyr1092Ter)
c.3201C>A (p.Tyr1067Ter)
c.2796C>A (p.Tyr932Ter)
c.2154C>A (p.Tyr718Ter)
n.3579C>A
10g.71709132C>GCA377143158CDH23c.3141C>G (p.Tyr1047Ter)
c.2572C>G
c.3156C>G (p.Tyr1052Ter)
c.1916C>G
c.3336C>G (p.Tyr1112Ter)
c.3270C>G (p.Tyr1090Ter)
c.3330C>G (p.Tyr1110Ter)
c.3276C>G (p.Tyr1092Ter)
c.3201C>G (p.Tyr1067Ter)
c.2796C>G (p.Tyr932Ter)
c.2154C>G (p.Tyr718Ter)
n.3579C>G
10g.71709132C>TCA470062377CDH23c.3141C>T (p.Tyr1047=)
c.2572C>T
c.3156C>T (p.Tyr1052=)
c.1916C>T
c.3336C>T (p.Tyr1112=)
c.3270C>T (p.Tyr1090=)
c.3330C>T (p.Tyr1110=)
c.3276C>T (p.Tyr1092=)
c.3201C>T (p.Tyr1067=)
c.2796C>T (p.Tyr932=)
c.2154C>T (p.Tyr718=)
n.3579C>T
 ClinVar dbSNP
10g.71709133C>ACA377143162CDH23c.3142C>A (p.Arg1048Ser)
c.2573C>A
c.3157C>A (p.Arg1053Ser)
c.1917C>A
c.3337C>A (p.Arg1113Ser)
c.3271C>A (p.Arg1091Ser)
c.3331C>A (p.Arg1111Ser)
c.3277C>A (p.Arg1093Ser)
c.3202C>A (p.Arg1068Ser)
c.2797C>A (p.Arg933Ser)
c.2155C>A (p.Arg719Ser)
n.3580C>A
10g.71709133C=CA1918840804CDH23c.3142C= (p.Arg1048=)
c.2573C=
c.3157C= (p.Arg1053=)
c.1917C=
c.3337C= (p.Arg1113=)
c.3271C= (p.Arg1091=)
c.3331C= (p.Arg1111=)
c.3277C= (p.Arg1093=)
c.3202C= (p.Arg1068=)
c.2797C= (p.Arg933=)
c.2155C= (p.Arg719=)
n.3580C=
10g.71709133C>GCA377143165CDH23c.3142C>G (p.Arg1048Gly)
c.2573C>G
c.3157C>G (p.Arg1053Gly)
c.1917C>G
c.3337C>G (p.Arg1113Gly)
c.3271C>G (p.Arg1091Gly)
c.3331C>G (p.Arg1111Gly)
c.3277C>G (p.Arg1093Gly)
c.3202C>G (p.Arg1068Gly)
c.2797C>G (p.Arg933Gly)
c.2155C>G (p.Arg719Gly)
n.3580C>G
 dbSNP
10g.71709133C>TCA5544491CDH23c.3142C>T (p.Arg1048Cys)
c.2573C>T
c.3157C>T (p.Arg1053Cys)
c.1917C>T
c.3337C>T (p.Arg1113Cys)
c.3271C>T (p.Arg1091Cys)
c.3331C>T (p.Arg1111Cys)
c.3277C>T (p.Arg1093Cys)
c.3202C>T (p.Arg1068Cys)
c.2797C>T (p.Arg933Cys)
c.2155C>T (p.Arg719Cys)
n.3580C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709134G>ACA5544492CDH23c.3143G>A (p.Arg1048His)
c.2574G>A
c.3158G>A (p.Arg1053His)
c.1918G>A
c.3338G>A (p.Arg1113His)
c.3272G>A (p.Arg1091His)
c.3332G>A (p.Arg1111His)
c.3278G>A (p.Arg1093His)
c.3203G>A (p.Arg1068His)
c.2798G>A (p.Arg933His)
c.2156G>A (p.Arg719His)
n.3581G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71709134G>CCA377143170CDH23c.3143G>C (p.Arg1048Pro)
c.2574G>C
c.3158G>C (p.Arg1053Pro)
c.1918G>C
c.3338G>C (p.Arg1113Pro)
c.3272G>C (p.Arg1091Pro)
c.3332G>C (p.Arg1111Pro)
c.3278G>C (p.Arg1093Pro)
c.3203G>C (p.Arg1068Pro)
c.2798G>C (p.Arg933Pro)
c.2156G>C (p.Arg719Pro)
n.3581G>C
10g.71709134G=CA1918840808CDH23c.3143G= (p.Arg1048=)
c.2574G=
c.3158G= (p.Arg1053=)
c.1918G=
c.3338G= (p.Arg1113=)
c.3272G= (p.Arg1091=)
c.3332G= (p.Arg1111=)
c.3278G= (p.Arg1093=)
c.3203G= (p.Arg1068=)
c.2798G= (p.Arg933=)
c.2156G= (p.Arg719=)
n.3581G=
10g.71709134G>TCA377143171CDH23c.3143G>T (p.Arg1048Leu)
c.2574G>T
c.3158G>T (p.Arg1053Leu)
c.1918G>T
c.3338G>T (p.Arg1113Leu)
c.3272G>T (p.Arg1091Leu)
c.3332G>T (p.Arg1111Leu)
c.3278G>T (p.Arg1093Leu)
c.3203G>T (p.Arg1068Leu)
c.2798G>T (p.Arg933Leu)
c.2156G>T (p.Arg719Leu)
n.3581G>T
10g.71709135C>ACA470062379CDH23c.3144C>A (p.Arg1048=)
c.2575C>A
c.3159C>A (p.Arg1053=)
c.1919C>A
c.3339C>A (p.Arg1113=)
c.3273C>A (p.Arg1091=)
c.3333C>A (p.Arg1111=)
c.3279C>A (p.Arg1093=)
c.3204C>A (p.Arg1068=)
c.2799C>A (p.Arg933=)
c.2157C>A (p.Arg719=)
n.3582C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71709135C=CA1918840813CDH23c.3144C= (p.Arg1048=)
c.2575C=
c.3159C= (p.Arg1053=)
c.1919C=
c.3339C= (p.Arg1113=)
c.3273C= (p.Arg1091=)
c.3333C= (p.Arg1111=)
c.3279C= (p.Arg1093=)
c.3204C= (p.Arg1068=)
c.2799C= (p.Arg933=)
c.2157C= (p.Arg719=)
n.3582C=
10g.71709135C>GCA470062378CDH23c.3144C>G (p.Arg1048=)
c.2575C>G
c.3159C>G (p.Arg1053=)
c.1919C>G
c.3339C>G (p.Arg1113=)
c.3273C>G (p.Arg1091=)
c.3333C>G (p.Arg1111=)
c.3279C>G (p.Arg1093=)
c.3204C>G (p.Arg1068=)
c.2799C>G (p.Arg933=)
c.2157C>G (p.Arg719=)
n.3582C>G
10g.71709135C>TCA209462104CDH23c.3144C>T (p.Arg1048=)
c.2575C>T
c.3159C>T (p.Arg1053=)
c.1919C>T
c.3339C>T (p.Arg1113=)
c.3273C>T (p.Arg1091=)
c.3333C>T (p.Arg1111=)
c.3279C>T (p.Arg1093=)
c.3204C>T (p.Arg1068=)
c.2799C>T (p.Arg933=)
c.2157C>T (p.Arg719=)
n.3582C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71709136G>ACA5544493CDH23c.3145G>A (p.Asp1049Asn)
c.2576G>A
c.3160G>A (p.Asp1054Asn)
c.1920G>A
c.3340G>A (p.Asp1114Asn)
c.3274G>A (p.Asp1092Asn)
c.3334G>A (p.Asp1112Asn)
c.3280G>A (p.Asp1094Asn)
c.3205G>A (p.Asp1069Asn)
c.2800G>A (p.Asp934Asn)
c.2158G>A (p.Asp720Asn)
n.3583G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709136G>CCA377143179CDH23c.3145G>C (p.Asp1049His)
c.2576G>C
c.3160G>C (p.Asp1054His)
c.1920G>C
c.3340G>C (p.Asp1114His)
c.3274G>C (p.Asp1092His)
c.3334G>C (p.Asp1112His)
c.3280G>C (p.Asp1094His)
c.3205G>C (p.Asp1069His)
c.2800G>C (p.Asp934His)
c.2158G>C (p.Asp720His)
n.3583G>C
10g.71709136G=CA1918840816CDH23c.3145G= (p.Asp1049=)
c.2576G=
c.3160G= (p.Asp1054=)
c.1920G=
c.3340G= (p.Asp1114=)
c.3274G= (p.Asp1092=)
c.3334G= (p.Asp1112=)
c.3280G= (p.Asp1094=)
c.3205G= (p.Asp1069=)
c.2800G= (p.Asp934=)
c.2158G= (p.Asp720=)
n.3583G=
10g.71709136G>TCA377143176CDH23c.3145G>T (p.Asp1049Tyr)
c.2576G>T
c.3160G>T (p.Asp1054Tyr)
c.1920G>T
c.3340G>T (p.Asp1114Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3334G>T (p.Asp1112Tyr)
c.3280G>T (p.Asp1094Tyr)
c.3205G>T (p.Asp1069Tyr)
c.2800G>T (p.Asp934Tyr)
c.2158G>T (p.Asp720Tyr)
n.3583G>T
10g.71709137A=CA1918840817CDH23c.3146A= (p.Asp1049=)
c.2577A=
c.3161A= (p.Asp1054=)
c.1921A=
c.3341A= (p.Asp1114=)
c.3275A= (p.Asp1092=)
c.3335A= (p.Asp1112=)
c.3281A= (p.Asp1094=)
c.3206A= (p.Asp1069=)
c.2801A= (p.Asp934=)
c.2159A= (p.Asp720=)
n.3584A=
10g.71709137A>CCA377143183CDH23c.3146A>C (p.Asp1049Ala)
c.2577A>C
c.3161A>C (p.Asp1054Ala)
c.1921A>C
c.3341A>C (p.Asp1114Ala)
c.3275A>C (p.Asp1092Ala)
c.3335A>C (p.Asp1112Ala)
c.3281A>C (p.Asp1094Ala)
c.3206A>C (p.Asp1069Ala)
c.2801A>C (p.Asp934Ala)
c.2159A>C (p.Asp720Ala)
n.3584A>C
10g.71709137A>GCA5544494CDH23c.3146A>G (p.Asp1049Gly)
c.2577A>G
c.3161A>G (p.Asp1054Gly)
c.1921A>G
c.3341A>G (p.Asp1114Gly)
c.3275A>G (p.Asp1092Gly)
c.3335A>G (p.Asp1112Gly)
c.3281A>G (p.Asp1094Gly)
c.3206A>G (p.Asp1069Gly)
c.2801A>G (p.Asp934Gly)
c.2159A>G (p.Asp720Gly)
n.3584A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709137A>TCA377143186CDH23c.3146A>T (p.Asp1049Val)
c.2577A>T
c.3161A>T (p.Asp1054Val)
c.1921A>T
c.3341A>T (p.Asp1114Val)
c.3275A>T (p.Asp1092Val)
c.3335A>T (p.Asp1112Val)
c.3281A>T (p.Asp1094Val)
c.3206A>T (p.Asp1069Val)
c.2801A>T (p.Asp934Val)
c.2159A>T (p.Asp720Val)
n.3584A>T
 dbSNP gnomAD v2 gnomAD v4
10g.71709138T>ACA377143189CDH23c.3147T>A (p.Asp1049Glu)
c.2578T>A
c.3162T>A (p.Asp1054Glu)
c.1922T>A
c.3342T>A (p.Asp1114Glu)
c.3276T>A (p.Asp1092Glu)
c.3336T>A (p.Asp1112Glu)
c.3282T>A (p.Asp1094Glu)
c.3207T>A (p.Asp1069Glu)
c.2802T>A (p.Asp934Glu)
c.2160T>A (p.Asp720Glu)
n.3585T>A
10g.71709138T>CCA5544495CDH23c.3147T>C (p.Asp1049=)
c.2578T>C
c.3162T>C (p.Asp1054=)
c.1922T>C
c.3342T>C (p.Asp1114=)
c.3276T>C (p.Asp1092=)
c.3336T>C (p.Asp1112=)
c.3282T>C (p.Asp1094=)
c.3207T>C (p.Asp1069=)
c.2802T>C (p.Asp934=)
c.2160T>C (p.Asp720=)
n.3585T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709138T>GCA377143194CDH23c.3147T>G (p.Asp1049Glu)
c.2578T>G
c.3162T>G (p.Asp1054Glu)
c.1922T>G
c.3342T>G (p.Asp1114Glu)
c.3276T>G (p.Asp1092Glu)
c.3336T>G (p.Asp1112Glu)
c.3282T>G (p.Asp1094Glu)
c.3207T>G (p.Asp1069Glu)
c.2802T>G (p.Asp934Glu)
c.2160T>G (p.Asp720Glu)
n.3585T>G
 gnomAD v4
10g.71709138T=CA1918840821CDH23c.3147T= (p.Asp1049=)
c.2578T=
c.3162T= (p.Asp1054=)
c.1922T=
c.3342T= (p.Asp1114=)
c.3276T= (p.Asp1092=)
c.3336T= (p.Asp1112=)
c.3282T= (p.Asp1094=)
c.3207T= (p.Asp1069=)
c.2802T= (p.Asp934=)
c.2160T= (p.Asp720=)
n.3585T=
10g.71709139G>ACA377143196CDH23c.3148G>A (p.Ala1050Thr)
c.2579G>A
c.3163G>A (p.Ala1055Thr)
c.1923G>A
c.3343G>A (p.Ala1115Thr)
c.3277G>A (p.Ala1093Thr)
c.3337G>A (p.Ala1113Thr)
c.3283G>A (p.Ala1095Thr)
c.3208G>A (p.Ala1070Thr)
c.2803G>A (p.Ala935Thr)
c.2161G>A (p.Ala721Thr)
n.3586G>A
 gnomAD v4
10g.71709139G>CCA377143199CDH23c.3148G>C (p.Ala1050Pro)
c.2579G>C
c.3163G>C (p.Ala1055Pro)
c.1923G>C
c.3343G>C (p.Ala1115Pro)
c.3277G>C (p.Ala1093Pro)
c.3337G>C (p.Ala1113Pro)
c.3283G>C (p.Ala1095Pro)
c.3208G>C (p.Ala1070Pro)
c.2803G>C (p.Ala935Pro)
c.2161G>C (p.Ala721Pro)
n.3586G>C
10g.71709139G>TCA377143206CDH23c.3148G>T (p.Ala1050Ser)
c.2579G>T
c.3163G>T (p.Ala1055Ser)
c.1923G>T
c.3343G>T (p.Ala1115Ser)
c.3277G>T (p.Ala1093Ser)
c.3337G>T (p.Ala1113Ser)
c.3283G>T (p.Ala1095Ser)
c.3208G>T (p.Ala1070Ser)
c.2803G>T (p.Ala935Ser)
c.2161G>T (p.Ala721Ser)
n.3586G>T
10g.71709140C>ACA377143208CDH23c.3149C>A (p.Ala1050Asp)
c.2580C>A
c.3164C>A (p.Ala1055Asp)
c.1924C>A
c.3344C>A (p.Ala1115Asp)
c.3278C>A (p.Ala1093Asp)
c.3338C>A (p.Ala1113Asp)
c.3284C>A (p.Ala1095Asp)
c.3209C>A (p.Ala1070Asp)
c.2804C>A (p.Ala935Asp)
c.2162C>A (p.Ala721Asp)
n.3587C>A
10g.71709140C>GCA377143210CDH23c.3149C>G (p.Ala1050Gly)
c.2580C>G
c.3164C>G (p.Ala1055Gly)
c.1924C>G
c.3344C>G (p.Ala1115Gly)
c.3278C>G (p.Ala1093Gly)
c.3338C>G (p.Ala1113Gly)
c.3284C>G (p.Ala1095Gly)
c.3209C>G (p.Ala1070Gly)
c.2804C>G (p.Ala935Gly)
c.2162C>G (p.Ala721Gly)
n.3587C>G
 gnomAD v4 COSMIC COSMIC
10g.71709140C>TCA377143212CDH23c.3149C>T (p.Ala1050Val)
c.2580C>T
c.3164C>T (p.Ala1055Val)
c.1924C>T
c.3344C>T (p.Ala1115Val)
c.3278C>T (p.Ala1093Val)
c.3338C>T (p.Ala1113Val)
c.3284C>T (p.Ala1095Val)
c.3209C>T (p.Ala1070Val)
c.2804C>T (p.Ala935Val)
c.2162C>T (p.Ala721Val)
n.3587C>T
 COSMIC
10g.71709141C>ACA5544496CDH23c.3150C>A (p.Ala1050=)
c.2581C>A
c.3165C>A (p.Ala1055=)
c.1925C>A
c.3345C>A (p.Ala1115=)
c.3279C>A (p.Ala1093=)
c.3339C>A (p.Ala1113=)
c.3285C>A (p.Ala1095=)
c.3210C>A (p.Ala1070=)
c.2805C>A (p.Ala935=)
c.2163C>A (p.Ala721=)
n.3588C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.71709141C=CA1918840831CDH23c.3150C= (p.Ala1050=)
c.2581C=
c.3165C= (p.Ala1055=)
c.1925C=
c.3345C= (p.Ala1115=)
c.3279C= (p.Ala1093=)
c.3339C= (p.Ala1113=)
c.3285C= (p.Ala1095=)
c.3210C= (p.Ala1070=)
c.2805C= (p.Ala935=)
c.2163C= (p.Ala721=)
n.3588C=
10g.71709141C>GCA470062380CDH23c.3150C>G (p.Ala1050=)
c.2581C>G
c.3165C>G (p.Ala1055=)
c.1925C>G
c.3345C>G (p.Ala1115=)
c.3279C>G (p.Ala1093=)
c.3339C>G (p.Ala1113=)
c.3285C>G (p.Ala1095=)
c.3210C>G (p.Ala1070=)
c.2805C>G (p.Ala935=)
c.2163C>G (p.Ala721=)
n.3588C>G
 dbSNP gnomAD v3 gnomAD v4
10g.71709141C>TCA209462124CDH23c.3150C>T (p.Ala1050=)
c.2581C>T
c.3165C>T (p.Ala1055=)
c.1925C>T
c.3345C>T (p.Ala1115=)
c.3279C>T (p.Ala1093=)
c.3339C>T (p.Ala1113=)
c.3285C>T (p.Ala1095=)
c.3210C>T (p.Ala1070=)
c.2805C>T (p.Ala935=)
c.2163C>T (p.Ala721=)
n.3588C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71709142G>ACA10576812CDH23c.3151G>A (p.Val1051Ile)
c.2582G>A
c.3166G>A (p.Val1056Ile)
c.1926G>A
c.3346G>A (p.Val1116Ile)
c.3280G>A (p.Val1094Ile)
c.3340G>A (p.Val1114Ile)
c.3286G>A (p.Val1096Ile)
c.3211G>A (p.Val1071Ile)
c.2806G>A (p.Val936Ile)
c.2164G>A (p.Val722Ile)
n.3589G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709142G>CCA377143222CDH23c.3151G>C (p.Val1051Leu)
c.2582G>C
c.3166G>C (p.Val1056Leu)
c.1926G>C
c.3346G>C (p.Val1116Leu)
c.3280G>C (p.Val1094Leu)
c.3340G>C (p.Val1114Leu)
c.3286G>C (p.Val1096Leu)
c.3211G>C (p.Val1071Leu)
c.2806G>C (p.Val936Leu)
c.2164G>C (p.Val722Leu)
n.3589G>C
10g.71709142G=CA1918840836CDH23c.3151G= (p.Val1051=)
c.2582G=
c.3166G= (p.Val1056=)
c.1926G=
c.3346G= (p.Val1116=)
c.3280G= (p.Val1094=)
c.3340G= (p.Val1114=)
c.3286G= (p.Val1096=)
c.3211G= (p.Val1071=)
c.2806G= (p.Val936=)
c.2164G= (p.Val722=)
n.3589G=
10g.71709142G>TCA377143218CDH23c.3151G>T (p.Val1051Phe)
c.2582G>T
c.3166G>T (p.Val1056Phe)
c.1926G>T
c.3346G>T (p.Val1116Phe)
c.3280G>T (p.Val1094Phe)
c.3340G>T (p.Val1114Phe)
c.3286G>T (p.Val1096Phe)
c.3211G>T (p.Val1071Phe)
c.2806G>T (p.Val936Phe)
c.2164G>T (p.Val722Phe)
n.3589G>T
 gnomAD v4
10g.71709143T>ACA377143228CDH23c.3152T>A (p.Val1051Asp)
c.2583T>A
c.3167T>A (p.Val1056Asp)
c.1927T>A
c.3347T>A (p.Val1116Asp)
c.3281T>A (p.Val1094Asp)
c.3341T>A (p.Val1114Asp)
c.3287T>A (p.Val1096Asp)
c.3212T>A (p.Val1071Asp)
c.2807T>A (p.Val936Asp)
c.2165T>A (p.Val722Asp)
n.3590T>A
10g.71709143T>CCA377143231CDH23c.3152T>C (p.Val1051Ala)
c.2583T>C
c.3167T>C (p.Val1056Ala)
c.1927T>C
c.3347T>C (p.Val1116Ala)
c.3281T>C (p.Val1094Ala)
c.3341T>C (p.Val1114Ala)
c.3287T>C (p.Val1096Ala)
c.3212T>C (p.Val1071Ala)
c.2807T>C (p.Val936Ala)
c.2165T>C (p.Val722Ala)
n.3590T>C
10g.71709143T>GCA377143237CDH23c.3152T>G (p.Val1051Gly)
c.2583T>G
c.3167T>G (p.Val1056Gly)
c.1927T>G
c.3347T>G (p.Val1116Gly)
c.3281T>G (p.Val1094Gly)
c.3341T>G (p.Val1114Gly)
c.3287T>G (p.Val1096Gly)
c.3212T>G (p.Val1071Gly)
c.2807T>G (p.Val936Gly)
c.2165T>G (p.Val722Gly)
n.3590T>G
10g.71709144T>ACA470062381CDH23c.3153T>A (p.Val1051=)
c.2584T>A
c.3168T>A (p.Val1056=)
c.1928T>A
c.3348T>A (p.Val1116=)
c.3282T>A (p.Val1094=)
c.3342T>A (p.Val1114=)
c.3288T>A (p.Val1096=)
c.3213T>A (p.Val1071=)
c.2808T>A (p.Val936=)
c.2166T>A (p.Val722=)
n.3591T>A
10g.71709144T>CCA5544497CDH23c.3153T>C (p.Val1051=)
c.2584T>C
c.3168T>C (p.Val1056=)
c.1928T>C
c.3348T>C (p.Val1116=)
c.3282T>C (p.Val1094=)
c.3342T>C (p.Val1114=)
c.3288T>C (p.Val1096=)
c.3213T>C (p.Val1071=)
c.2808T>C (p.Val936=)
c.2166T>C (p.Val722=)
n.3591T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709144T>GCA470062382CDH23c.3153T>G (p.Val1051=)
c.2584T>G
c.3168T>G (p.Val1056=)
c.1928T>G
c.3348T>G (p.Val1116=)
c.3282T>G (p.Val1094=)
c.3342T>G (p.Val1114=)
c.3288T>G (p.Val1096=)
c.3213T>G (p.Val1071=)
c.2808T>G (p.Val936=)
c.2166T>G (p.Val722=)
n.3591T>G
10g.71709144T=CA1918840843CDH23c.3153T= (p.Val1051=)
c.2584T=
c.3168T= (p.Val1056=)
c.1928T=
c.3348T= (p.Val1116=)
c.3282T= (p.Val1094=)
c.3342T= (p.Val1114=)
c.3288T= (p.Val1096=)
c.3213T= (p.Val1071=)
c.2808T= (p.Val936=)
c.2166T= (p.Val722=)
n.3591T=
10g.71709145G>ACA377143242CDH23c.3154G>A (p.Val1052Met)
c.2585G>A
c.3169G>A (p.Val1057Met)
c.1929G>A
c.3349G>A (p.Val1117Met)
c.3283G>A (p.Val1095Met)
c.3343G>A (p.Val1115Met)
c.3289G>A (p.Val1097Met)
c.3214G>A (p.Val1072Met)
c.2809G>A (p.Val937Met)
c.2167G>A (p.Val723Met)
n.3592G>A
10g.71709145G>CCA377143243CDH23c.3154G>C (p.Val1052Leu)
c.2585G>C
c.3169G>C (p.Val1057Leu)
c.1929G>C
c.3349G>C (p.Val1117Leu)
c.3283G>C (p.Val1095Leu)
c.3343G>C (p.Val1115Leu)
c.3289G>C (p.Val1097Leu)
c.3214G>C (p.Val1072Leu)
c.2809G>C (p.Val937Leu)
c.2167G>C (p.Val723Leu)
n.3592G>C
10g.71709145G>TCA377143245CDH23c.3154G>T (p.Val1052Leu)
c.2585G>T
c.3169G>T (p.Val1057Leu)
c.1929G>T
c.3349G>T (p.Val1117Leu)
c.3283G>T (p.Val1095Leu)
c.3343G>T (p.Val1115Leu)
c.3289G>T (p.Val1097Leu)
c.3214G>T (p.Val1072Leu)
c.2809G>T (p.Val937Leu)
c.2167G>T (p.Val723Leu)
n.3592G>T
10g.71709146T>ACA377143248CDH23c.3155T>A (p.Val1052Glu)
c.2586T>A
c.3170T>A (p.Val1057Glu)
c.1930T>A
c.3350T>A (p.Val1117Glu)
c.3284T>A (p.Val1095Glu)
c.3344T>A (p.Val1115Glu)
c.3290T>A (p.Val1097Glu)
c.3215T>A (p.Val1072Glu)
c.2810T>A (p.Val937Glu)
c.2168T>A (p.Val723Glu)
n.3593T>A
10g.71709146T>CCA377143249CDH23c.3155T>C (p.Val1052Ala)
c.2586T>C
c.3170T>C (p.Val1057Ala)
c.1930T>C
c.3350T>C (p.Val1117Ala)
c.3284T>C (p.Val1095Ala)
c.3344T>C (p.Val1115Ala)
c.3290T>C (p.Val1097Ala)
c.3215T>C (p.Val1072Ala)
c.2810T>C (p.Val937Ala)
c.2168T>C (p.Val723Ala)
n.3593T>C
10g.71709146T>GCA377143252CDH23c.3155T>G (p.Val1052Gly)
c.2586T>G
c.3170T>G (p.Val1057Gly)
c.1930T>G
c.3350T>G (p.Val1117Gly)
c.3284T>G (p.Val1095Gly)
c.3344T>G (p.Val1115Gly)
c.3290T>G (p.Val1097Gly)
c.3215T>G (p.Val1072Gly)
c.2810T>G (p.Val937Gly)
c.2168T>G (p.Val723Gly)
n.3593T>G
 gnomAD v4
10g.71709147G>ACA470062385CDH23c.3156G>A (p.Val1052=)
c.2587G>A
c.3171G>A (p.Val1057=)
c.1931G>A
c.3351G>A (p.Val1117=)
c.3285G>A (p.Val1095=)
c.3345G>A (p.Val1115=)
c.3291G>A (p.Val1097=)
c.3216G>A (p.Val1072=)
c.2811G>A (p.Val937=)
c.2169G>A (p.Val723=)
n.3594G>A
 gnomAD v4
10g.71709147G>CCA470062386CDH23c.3156G>C (p.Val1052=)
c.2587G>C
c.3171G>C (p.Val1057=)
c.1931G>C
c.3351G>C (p.Val1117=)
c.3285G>C (p.Val1095=)
c.3345G>C (p.Val1115=)
c.3291G>C (p.Val1097=)
c.3216G>C (p.Val1072=)
c.2811G>C (p.Val937=)
c.2169G>C (p.Val723=)
n.3594G>C
10g.71709147G>TCA470062387CDH23c.3156G>T (p.Val1052=)
c.2587G>T
c.3171G>T (p.Val1057=)
c.1931G>T
c.3351G>T (p.Val1117=)
c.3285G>T (p.Val1095=)
c.3345G>T (p.Val1115=)
c.3291G>T (p.Val1097=)
c.3216G>T (p.Val1072=)
c.2811G>T (p.Val937=)
c.2169G>T (p.Val723=)
n.3594G>T
10g.71709148A>CCA470062388CDH23c.3157A>C (p.Arg1053=)
c.2588A>C
c.3172A>C (p.Arg1058=)
c.1932A>C
c.3352A>C (p.Arg1118=)
c.3286A>C (p.Arg1096=)
c.3346A>C (p.Arg1116=)
c.3292A>C (p.Arg1098=)
c.3217A>C (p.Arg1073=)
c.2812A>C (p.Arg938=)
c.2170A>C (p.Arg724=)
n.3595A>C
 ClinVar
10g.71709148A>GCA377143259CDH23c.3157A>G (p.Arg1053Gly)
c.2588A>G
c.3172A>G (p.Arg1058Gly)
c.1932A>G
c.3352A>G (p.Arg1118Gly)
c.3286A>G (p.Arg1096Gly)
c.3346A>G (p.Arg1116Gly)
c.3292A>G (p.Arg1098Gly)
c.3217A>G (p.Arg1073Gly)
c.2812A>G (p.Arg938Gly)
c.2170A>G (p.Arg724Gly)
n.3595A>G
10g.71709148A>TCA377143262CDH23c.3157A>T (p.Arg1053Ter)
c.2588A>T
c.3172A>T (p.Arg1058Ter)
c.1932A>T
c.3352A>T (p.Arg1118Ter)
c.3286A>T (p.Arg1096Ter)
c.3346A>T (p.Arg1116Ter)
c.3292A>T (p.Arg1098Ter)
c.3217A>T (p.Arg1073Ter)
c.2812A>T (p.Arg938Ter)
c.2170A>T (p.Arg724Ter)
n.3595A>T
10g.71709149G>ACA377143264CDH23c.3158G>A (p.Arg1053Lys)
c.2589G>A
c.3173G>A (p.Arg1058Lys)
c.1933G>A
c.3353G>A (p.Arg1118Lys)
c.3287G>A (p.Arg1096Lys)
c.3347G>A (p.Arg1116Lys)
c.3293G>A (p.Arg1098Lys)
c.3218G>A (p.Arg1073Lys)
c.2813G>A (p.Arg938Lys)
c.2171G>A (p.Arg724Lys)
n.3596G>A
10g.71709149G>CCA377143265CDH23c.3158G>C (p.Arg1053Thr)
c.2589G>C
c.3173G>C (p.Arg1058Thr)
c.1933G>C
c.3353G>C (p.Arg1118Thr)
c.3287G>C (p.Arg1096Thr)
c.3347G>C (p.Arg1116Thr)
c.3293G>C (p.Arg1098Thr)
c.3218G>C (p.Arg1073Thr)
c.2813G>C (p.Arg938Thr)
c.2171G>C (p.Arg724Thr)
n.3596G>C
 gnomAD v4
10g.71709149G>TCA377143263CDH23c.3158G>T (p.Arg1053Ile)
c.2589G>T
c.3173G>T (p.Arg1058Ile)
c.1933G>T
c.3353G>T (p.Arg1118Ile)
c.3287G>T (p.Arg1096Ile)
c.3347G>T (p.Arg1116Ile)
c.3293G>T (p.Arg1098Ile)
c.3218G>T (p.Arg1073Ile)
c.2813G>T (p.Arg938Ile)
c.2171G>T (p.Arg724Ile)
n.3596G>T
10g.71709150A>CCA377143266CDH23c.3159A>C (p.Arg1053Ser)
c.2590A>C
c.3174A>C (p.Arg1058Ser)
c.1934A>C
c.3354A>C (p.Arg1118Ser)
c.3288A>C (p.Arg1096Ser)
c.3348A>C (p.Arg1116Ser)
c.3294A>C (p.Arg1098Ser)
c.3219A>C (p.Arg1073Ser)
c.2814A>C (p.Arg938Ser)
c.2172A>C (p.Arg724Ser)
n.3597A>C
10g.71709150A>GCA470062392CDH23c.3159A>G (p.Arg1053=)
c.2590A>G
c.3174A>G (p.Arg1058=)
c.1934A>G
c.3354A>G (p.Arg1118=)
c.3288A>G (p.Arg1096=)
c.3348A>G (p.Arg1116=)
c.3294A>G (p.Arg1098=)
c.3219A>G (p.Arg1073=)
c.2814A>G (p.Arg938=)
c.2172A>G (p.Arg724=)
n.3597A>G
10g.71709150A>TCA377143268CDH23c.3159A>T (p.Arg1053Ser)
c.2590A>T
c.3174A>T (p.Arg1058Ser)
c.1934A>T
c.3354A>T (p.Arg1118Ser)
c.3288A>T (p.Arg1096Ser)
c.3348A>T (p.Arg1116Ser)
c.3294A>T (p.Arg1098Ser)
c.3219A>T (p.Arg1073Ser)
c.2814A>T (p.Arg938Ser)
c.2172A>T (p.Arg724Ser)
n.3597A>T
10g.71709151A>CCA377143269CDH23c.3160A>C (p.Thr1054Pro)
c.2591A>C
c.3175A>C (p.Thr1059Pro)
c.1935A>C
c.3355A>C (p.Thr1119Pro)
c.3289A>C (p.Thr1097Pro)
c.3349A>C (p.Thr1117Pro)
c.3295A>C (p.Thr1099Pro)
c.3220A>C (p.Thr1074Pro)
c.2815A>C (p.Thr939Pro)
c.2173A>C (p.Thr725Pro)
n.3598A>C
10g.71709151A>GCA377143271CDH23c.3160A>G (p.Thr1054Ala)
c.2591A>G
c.3175A>G (p.Thr1059Ala)
c.1935A>G
c.3355A>G (p.Thr1119Ala)
c.3289A>G (p.Thr1097Ala)
c.3349A>G (p.Thr1117Ala)
c.3295A>G (p.Thr1099Ala)
c.3220A>G (p.Thr1074Ala)
c.2815A>G (p.Thr939Ala)
c.2173A>G (p.Thr725Ala)
n.3598A>G
10g.71709151A>TCA377143272CDH23c.3160A>T (p.Thr1054Ser)
c.2591A>T
c.3175A>T (p.Thr1059Ser)
c.1935A>T
c.3355A>T (p.Thr1119Ser)
c.3289A>T (p.Thr1097Ser)
c.3349A>T (p.Thr1117Ser)
c.3295A>T (p.Thr1099Ser)
c.3220A>T (p.Thr1074Ser)
c.2815A>T (p.Thr939Ser)
c.2173A>T (p.Thr725Ser)
n.3598A>T
10g.71709152C>ACA377143275CDH23c.3161C>A (p.Thr1054Asn)
c.2592C>A
c.3176C>A (p.Thr1059Asn)
c.1936C>A
c.3356C>A (p.Thr1119Asn)
c.3290C>A (p.Thr1097Asn)
c.3350C>A (p.Thr1117Asn)
c.3296C>A (p.Thr1099Asn)
c.3221C>A (p.Thr1074Asn)
c.2816C>A (p.Thr939Asn)
c.2174C>A (p.Thr725Asn)
n.3599C>A
10g.71709152C>GCA377143273CDH23c.3161C>G (p.Thr1054Ser)
c.2592C>G
c.3176C>G (p.Thr1059Ser)
c.1936C>G
c.3356C>G (p.Thr1119Ser)
c.3290C>G (p.Thr1097Ser)
c.3350C>G (p.Thr1117Ser)
c.3296C>G (p.Thr1099Ser)
c.3221C>G (p.Thr1074Ser)
c.2816C>G (p.Thr939Ser)
c.2174C>G (p.Thr725Ser)
n.3599C>G
10g.71709152C>TCA377143274CDH23c.3161C>T (p.Thr1054Ile)
c.2592C>T
c.3176C>T (p.Thr1059Ile)
c.1936C>T
c.3356C>T (p.Thr1119Ile)
c.3290C>T (p.Thr1097Ile)
c.3350C>T (p.Thr1117Ile)
c.3296C>T (p.Thr1099Ile)
c.3221C>T (p.Thr1074Ile)
c.2816C>T (p.Thr939Ile)
c.2174C>T (p.Thr725Ile)
n.3599C>T
10g.71709153C>ACA470062394CDH23c.3162C>A (p.Thr1054=)
c.2593C>A
c.3177C>A (p.Thr1059=)
c.1937C>A
c.3357C>A (p.Thr1119=)
c.3291C>A (p.Thr1097=)
c.3351C>A (p.Thr1117=)
c.3297C>A (p.Thr1099=)
c.3222C>A (p.Thr1074=)
c.2817C>A (p.Thr939=)
c.2175C>A (p.Thr725=)
n.3600C>A
 gnomAD v4 COSMIC COSMIC
10g.71709153C=CA1918840853CDH23c.3162C= (p.Thr1054=)
c.2593C=
c.3177C= (p.Thr1059=)
c.1937C=
c.3357C= (p.Thr1119=)
c.3291C= (p.Thr1097=)
c.3351C= (p.Thr1117=)
c.3297C= (p.Thr1099=)
c.3222C= (p.Thr1074=)
c.2817C= (p.Thr939=)
c.2175C= (p.Thr725=)
n.3600C=
10g.71709153C>GCA182066CDH23c.3162C>G (p.Thr1054=)
c.2593C>G
c.3177C>G (p.Thr1059=)
c.1937C>G
c.3357C>G (p.Thr1119=)
c.3291C>G (p.Thr1097=)
c.3351C>G (p.Thr1117=)
c.3297C>G (p.Thr1099=)
c.3222C>G (p.Thr1074=)
c.2817C>G (p.Thr939=)
c.2175C>G (p.Thr725=)
n.3600C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709153C>TCA5544498CDH23c.3162C>T (p.Thr1054=)
c.2593C>T
c.3177C>T (p.Thr1059=)
c.1937C>T
c.3357C>T (p.Thr1119=)
c.3291C>T (p.Thr1097=)
c.3351C>T (p.Thr1117=)
c.3297C>T (p.Thr1099=)
c.3222C>T (p.Thr1074=)
c.2817C>T (p.Thr939=)
c.2175C>T (p.Thr725=)
n.3600C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709154G>ACA5544499CDH23c.3163G>A (p.Val1055Met)
c.2594G>A
c.3178G>A (p.Val1060Met)
c.1938G>A
c.3358G>A (p.Val1120Met)
c.3292G>A (p.Val1098Met)
c.3352G>A (p.Val1118Met)
c.3298G>A (p.Val1100Met)
c.3223G>A (p.Val1075Met)
c.2818G>A (p.Val940Met)
c.2176G>A (p.Val726Met)
n.3601G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71709154G>CCA377143278CDH23c.3163G>C (p.Val1055Leu)
c.2594G>C
c.3178G>C (p.Val1060Leu)
c.1938G>C
c.3358G>C (p.Val1120Leu)
c.3292G>C (p.Val1098Leu)
c.3352G>C (p.Val1118Leu)
c.3298G>C (p.Val1100Leu)
c.3223G>C (p.Val1075Leu)
c.2818G>C (p.Val940Leu)
c.2176G>C (p.Val726Leu)
n.3601G>C
 gnomAD v4
10g.71709154G=CA1918840863CDH23c.3163G= (p.Val1055=)
c.2594G=
c.3178G= (p.Val1060=)
c.1938G=
c.3358G= (p.Val1120=)
c.3292G= (p.Val1098=)
c.3352G= (p.Val1118=)
c.3298G= (p.Val1100=)
c.3223G= (p.Val1075=)
c.2818G= (p.Val940=)
c.2176G= (p.Val726=)
n.3601G=
10g.71709154G>TCA377143280CDH23c.3163G>T (p.Val1055Leu)
c.2594G>T
c.3178G>T (p.Val1060Leu)
c.1938G>T
c.3358G>T (p.Val1120Leu)
c.3292G>T (p.Val1098Leu)
c.3352G>T (p.Val1118Leu)
c.3298G>T (p.Val1100Leu)
c.3223G>T (p.Val1075Leu)
c.2818G>T (p.Val940Leu)
c.2176G>T (p.Val726Leu)
n.3601G>T
10g.71709155T>ACA377143281CDH23c.3164T>A (p.Val1055Glu)
c.2595T>A
c.3179T>A (p.Val1060Glu)
c.1939T>A
c.3359T>A (p.Val1120Glu)
c.3293T>A (p.Val1098Glu)
c.3353T>A (p.Val1118Glu)
c.3299T>A (p.Val1100Glu)
c.3224T>A (p.Val1075Glu)
c.2819T>A (p.Val940Glu)
c.2177T>A (p.Val726Glu)
n.3602T>A
10g.71709155T>CCA377143285CDH23c.3164T>C (p.Val1055Ala)
c.2595T>C
c.3179T>C (p.Val1060Ala)
c.1939T>C
c.3359T>C (p.Val1120Ala)
c.3293T>C (p.Val1098Ala)
c.3353T>C (p.Val1118Ala)
c.3299T>C (p.Val1100Ala)
c.3224T>C (p.Val1075Ala)
c.2819T>C (p.Val940Ala)
c.2177T>C (p.Val726Ala)
n.3602T>C
10g.71709155T>GCA377143283CDH23c.3164T>G (p.Val1055Gly)
c.2595T>G
c.3179T>G (p.Val1060Gly)
c.1939T>G
c.3359T>G (p.Val1120Gly)
c.3293T>G (p.Val1098Gly)
c.3353T>G (p.Val1118Gly)
c.3299T>G (p.Val1100Gly)
c.3224T>G (p.Val1075Gly)
c.2819T>G (p.Val940Gly)
c.2177T>G (p.Val726Gly)
n.3602T>G
10g.71709156G>ACA5544500CDH23c.3165G>A (p.Val1055=)
c.2596G>A
c.3180G>A (p.Val1060=)
c.1940G>A
c.3360G>A (p.Val1120=)
c.3294G>A (p.Val1098=)
c.3354G>A (p.Val1118=)
c.3300G>A (p.Val1100=)
c.3225G>A (p.Val1075=)
c.2820G>A (p.Val940=)
c.2178G>A (p.Val726=)
n.3603G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709156G>CCA470062395CDH23c.3165G>C (p.Val1055=)
c.2596G>C
c.3180G>C (p.Val1060=)
c.1940G>C
c.3360G>C (p.Val1120=)
c.3294G>C (p.Val1098=)
c.3354G>C (p.Val1118=)
c.3300G>C (p.Val1100=)
c.3225G>C (p.Val1075=)
c.2820G>C (p.Val940=)
c.2178G>C (p.Val726=)
n.3603G>C
10g.71709156G=CA1918840868CDH23c.3165G= (p.Val1055=)
c.2596G=
c.3180G= (p.Val1060=)
c.1940G=
c.3360G= (p.Val1120=)
c.3294G= (p.Val1098=)
c.3354G= (p.Val1118=)
c.3300G= (p.Val1100=)
c.3225G= (p.Val1075=)
c.2820G= (p.Val940=)
c.2178G= (p.Val726=)
n.3603G=
10g.71709156G>TCA470062396CDH23c.3165G>T (p.Val1055=)
c.2596G>T
c.3180G>T (p.Val1060=)
c.1940G>T
c.3360G>T (p.Val1120=)
c.3294G>T (p.Val1098=)
c.3354G>T (p.Val1118=)
c.3300G>T (p.Val1100=)
c.3225G>T (p.Val1075=)
c.2820G>T (p.Val940=)
c.2178G>T (p.Val726=)
n.3603G>T
10g.71709157G>ACA377143287CDH23c.3166G>A (p.Val1056Met)
c.2597G>A
c.3181G>A (p.Val1061Met)
c.1941G>A
c.3361G>A (p.Val1121Met)
c.3295G>A (p.Val1099Met)
c.3355G>A (p.Val1119Met)
c.3301G>A (p.Val1101Met)
c.3226G>A (p.Val1076Met)
c.2821G>A (p.Val941Met)
c.2179G>A (p.Val727Met)
n.3604G>A
10g.71709157G>CCA377143286CDH23c.3166G>C (p.Val1056Leu)
c.2597G>C
c.3181G>C (p.Val1061Leu)
c.1941G>C
c.3361G>C (p.Val1121Leu)
c.3295G>C (p.Val1099Leu)
c.3355G>C (p.Val1119Leu)
c.3301G>C (p.Val1101Leu)
c.3226G>C (p.Val1076Leu)
c.2821G>C (p.Val941Leu)
c.2179G>C (p.Val727Leu)
n.3604G>C
10g.71709157G>TCA377143288CDH23c.3166G>T (p.Val1056Leu)
c.2597G>T
c.3181G>T (p.Val1061Leu)
c.1941G>T
c.3361G>T (p.Val1121Leu)
c.3295G>T (p.Val1099Leu)
c.3355G>T (p.Val1119Leu)
c.3301G>T (p.Val1101Leu)
c.3226G>T (p.Val1076Leu)
c.2821G>T (p.Val941Leu)
c.2179G>T (p.Val727Leu)
n.3604G>T
10g.71709158T>ACA377143290CDH23c.3167T>A (p.Val1056Glu)
c.2598T>A
c.3182T>A (p.Val1061Glu)
c.1942T>A
c.3362T>A (p.Val1121Glu)
c.3296T>A (p.Val1099Glu)
c.3356T>A (p.Val1119Glu)
c.3302T>A (p.Val1101Glu)
c.3227T>A (p.Val1076Glu)
c.2822T>A (p.Val941Glu)
c.2180T>A (p.Val727Glu)
n.3605T>A
10g.71709158T>CCA377143293CDH23c.3167T>C (p.Val1056Ala)
c.2598T>C
c.3182T>C (p.Val1061Ala)
c.1942T>C
c.3362T>C (p.Val1121Ala)
c.3296T>C (p.Val1099Ala)
c.3356T>C (p.Val1119Ala)
c.3302T>C (p.Val1101Ala)
c.3227T>C (p.Val1076Ala)
c.2822T>C (p.Val941Ala)
c.2180T>C (p.Val727Ala)
n.3605T>C
10g.71709158T>GCA377143292CDH23c.3167T>G (p.Val1056Gly)
c.2598T>G
c.3182T>G (p.Val1061Gly)
c.1942T>G
c.3362T>G (p.Val1121Gly)
c.3296T>G (p.Val1099Gly)
c.3356T>G (p.Val1119Gly)
c.3302T>G (p.Val1101Gly)
c.3227T>G (p.Val1076Gly)
c.2822T>G (p.Val941Gly)
c.2180T>G (p.Val727Gly)
n.3605T>G
10g.71709159G>ACA470062397CDH23c.3168G>A (p.Val1056=)
c.2599G>A
c.3183G>A (p.Val1061=)
c.1943G>A
c.3363G>A (p.Val1121=)
c.3297G>A (p.Val1099=)
c.3357G>A (p.Val1119=)
c.3303G>A (p.Val1101=)
c.3228G>A (p.Val1076=)
c.2823G>A (p.Val941=)
c.2181G>A (p.Val727=)
n.3606G>A
 ClinVar dbSNP
10g.71709159G>CCA470062398CDH23c.3168G>C (p.Val1056=)
c.2599G>C
c.3183G>C (p.Val1061=)
c.1943G>C
c.3363G>C (p.Val1121=)
c.3297G>C (p.Val1099=)
c.3357G>C (p.Val1119=)
c.3303G>C (p.Val1101=)
c.3228G>C (p.Val1076=)
c.2823G>C (p.Val941=)
c.2181G>C (p.Val727=)
n.3606G>C
10g.71709159G=CA1918840872CDH23c.3168G= (p.Val1056=)
c.2599G=
c.3183G= (p.Val1061=)
c.1943G=
c.3363G= (p.Val1121=)
c.3297G= (p.Val1099=)
c.3357G= (p.Val1119=)
c.3303G= (p.Val1101=)
c.3228G= (p.Val1076=)
c.2823G= (p.Val941=)
c.2181G= (p.Val727=)
n.3606G=
10g.71709159G>TCA470062399CDH23c.3168G>T (p.Val1056=)
c.2599G>T
c.3183G>T (p.Val1061=)
c.1943G>T
c.3363G>T (p.Val1121=)
c.3297G>T (p.Val1099=)
c.3357G>T (p.Val1119=)
c.3303G>T (p.Val1101=)
c.3228G>T (p.Val1076=)
c.2823G>T (p.Val941=)
c.2181G>T (p.Val727=)
n.3606G>T
10g.71709160G>ACA377143294CDH23c.3169G>A (p.Gly1057Ser)
c.2600G>A
c.3184G>A (p.Gly1062Ser)
c.1944G>A
c.3364G>A (p.Gly1122Ser)
c.3298G>A (p.Gly1100Ser)
c.3358G>A (p.Gly1120Ser)
c.3304G>A (p.Gly1102Ser)
c.3229G>A (p.Gly1077Ser)
c.2824G>A (p.Gly942Ser)
c.2182G>A (p.Gly728Ser)
n.3607G>A
10g.71709160G>CCA377143297CDH23c.3169G>C (p.Gly1057Arg)
c.2600G>C
c.3184G>C (p.Gly1062Arg)
c.1944G>C
c.3364G>C (p.Gly1122Arg)
c.3298G>C (p.Gly1100Arg)
c.3358G>C (p.Gly1120Arg)
c.3304G>C (p.Gly1102Arg)
c.3229G>C (p.Gly1077Arg)
c.2824G>C (p.Gly942Arg)
c.2182G>C (p.Gly728Arg)
n.3607G>C
 ClinVar dbSNP
10g.71709160G>TCA377143295CDH23c.3169G>T (p.Gly1057Cys)
c.2600G>T
c.3184G>T (p.Gly1062Cys)
c.1944G>T
c.3364G>T (p.Gly1122Cys)
c.3298G>T (p.Gly1100Cys)
c.3358G>T (p.Gly1120Cys)
c.3304G>T (p.Gly1102Cys)
c.3229G>T (p.Gly1077Cys)
c.2824G>T (p.Gly942Cys)
c.2182G>T (p.Gly728Cys)
n.3607G>T
10g.71709168_71709169insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGACCA2741106608CDH23c.3177_3178insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1059_Arg1060insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.2608_2609insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC
c.3192_3193insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1064_Arg1065insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.1952_1953insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC
c.3372_3373insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1124_Arg1125insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3306_3307insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1102_Arg1103insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3366_3367insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1122_Arg1123insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3312_3313insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1104_Arg1105insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3237_3238insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1079_Arg1080insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.2832_2833insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp944_Arg945insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.2190_2191insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp730_Arg731insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
n.3615_3616insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC
10g.71709161G>ACA377143298CDH23c.3170G>A (p.Gly1057Asp)
c.2601G>A
c.3185G>A (p.Gly1062Asp)
c.1945G>A
c.3365G>A (p.Gly1122Asp)
c.3299G>A (p.Gly1100Asp)
c.3359G>A (p.Gly1120Asp)
c.3305G>A (p.Gly1102Asp)
c.3230G>A (p.Gly1077Asp)
c.2825G>A (p.Gly942Asp)
c.2183G>A (p.Gly728Asp)
n.3608G>A
 ClinVar gnomAD v4 COSMIC COSMIC
10g.71709161G>CCA5544501CDH23c.3170G>C (p.Gly1057Ala)
c.2601G>C
c.3185G>C (p.Gly1062Ala)
c.1945G>C
c.3365G>C (p.Gly1122Ala)
c.3299G>C (p.Gly1100Ala)
c.3359G>C (p.Gly1120Ala)
c.3305G>C (p.Gly1102Ala)
c.3230G>C (p.Gly1077Ala)
c.2825G>C (p.Gly942Ala)
c.2183G>C (p.Gly728Ala)
n.3608G>C
 dbSNP ExAC
10g.71709161G=CA1918840881CDH23c.3170G= (p.Gly1057=)
c.2601G=
c.3185G= (p.Gly1062=)
c.1945G=
c.3365G= (p.Gly1122=)
c.3299G= (p.Gly1100=)
c.3359G= (p.Gly1120=)
c.3305G= (p.Gly1102=)
c.3230G= (p.Gly1077=)
c.2825G= (p.Gly942=)
c.2183G= (p.Gly728=)
n.3608G=
10g.71709161G>TCA377143300CDH23c.3170G>T (p.Gly1057Val)
c.2601G>T
c.3185G>T (p.Gly1062Val)
c.1945G>T
c.3365G>T (p.Gly1122Val)
c.3299G>T (p.Gly1100Val)
c.3359G>T (p.Gly1120Val)
c.3305G>T (p.Gly1102Val)
c.3230G>T (p.Gly1077Val)
c.2825G>T (p.Gly942Val)
c.2183G>T (p.Gly728Val)
n.3608G>T
10g.71709162C>ACA470062400CDH23c.3171C>A (p.Gly1057=)
c.2602C>A
c.3186C>A (p.Gly1062=)
c.1946C>A
c.3366C>A (p.Gly1122=)
c.3300C>A (p.Gly1100=)
c.3360C>A (p.Gly1120=)
c.3306C>A (p.Gly1102=)
c.3231C>A (p.Gly1077=)
c.2826C>A (p.Gly942=)
c.2184C>A (p.Gly728=)
n.3609C>A
10g.71709162C>GCA470062401CDH23c.3171C>G (p.Gly1057=)
c.2602C>G
c.3186C>G (p.Gly1062=)
c.1946C>G
c.3366C>G (p.Gly1122=)
c.3300C>G (p.Gly1100=)
c.3360C>G (p.Gly1120=)
c.3306C>G (p.Gly1102=)
c.3231C>G (p.Gly1077=)
c.2826C>G (p.Gly942=)
c.2184C>G (p.Gly728=)
n.3609C>G
10g.71709162C>TCA470062402CDH23c.3171C>T (p.Gly1057=)
c.2602C>T
c.3186C>T (p.Gly1062=)
c.1946C>T
c.3366C>T (p.Gly1122=)
c.3300C>T (p.Gly1100=)
c.3360C>T (p.Gly1120=)
c.3306C>T (p.Gly1102=)
c.3231C>T (p.Gly1077=)
c.2826C>T (p.Gly942=)
c.2184C>T (p.Gly728=)
n.3609C>T
 ClinVar
10g.71709163C>ACA377143301CDH23c.3172C>A (p.Leu1058Met)
c.2603C>A
c.3187C>A (p.Leu1063Met)
c.1947C>A
c.3367C>A (p.Leu1123Met)
c.3301C>A (p.Leu1101Met)
c.3361C>A (p.Leu1121Met)
c.3307C>A (p.Leu1103Met)
c.3232C>A (p.Leu1078Met)
c.2827C>A (p.Leu943Met)
c.2185C>A (p.Leu729Met)
n.3610C>A
10g.71709163C=CA1918840883CDH23c.3172C= (p.Leu1058=)
c.2603C=
c.3187C= (p.Leu1063=)
c.1947C=
c.3367C= (p.Leu1123=)
c.3301C= (p.Leu1101=)
c.3361C= (p.Leu1121=)
c.3307C= (p.Leu1103=)
c.3232C= (p.Leu1078=)
c.2827C= (p.Leu943=)
c.2185C= (p.Leu729=)
n.3610C=
10g.71709163C>GCA242794CDH23c.3172C>G (p.Leu1058Val)
c.2603C>G
c.3187C>G (p.Leu1063Val)
c.1947C>G
c.3367C>G (p.Leu1123Val)
c.3301C>G (p.Leu1101Val)
c.3361C>G (p.Leu1121Val)
c.3307C>G (p.Leu1103Val)
c.3232C>G (p.Leu1078Val)
c.2827C>G (p.Leu943Val)
c.2185C>G (p.Leu729Val)
n.3610C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709163C>TCA470062403CDH23c.3172C>T (p.Leu1058=)
c.2603C>T
c.3187C>T (p.Leu1063=)
c.1947C>T
c.3367C>T (p.Leu1123=)
c.3301C>T (p.Leu1101=)
c.3361C>T (p.Leu1121=)
c.3307C>T (p.Leu1103=)
c.3232C>T (p.Leu1078=)
c.2827C>T (p.Leu943=)
c.2185C>T (p.Leu729=)
n.3610C>T
10g.71709164T>ACA377143304CDH23c.3173T>A (p.Leu1058Gln)
c.2604T>A
c.3188T>A (p.Leu1063Gln)
c.1948T>A
c.3368T>A (p.Leu1123Gln)
c.3302T>A (p.Leu1101Gln)
c.3362T>A (p.Leu1121Gln)
c.3308T>A (p.Leu1103Gln)
c.3233T>A (p.Leu1078Gln)
c.2828T>A (p.Leu943Gln)
c.2186T>A (p.Leu729Gln)
n.3611T>A
 gnomAD v4
10g.71709164T>CCA377143307CDH23c.3173T>C (p.Leu1058Pro)
c.2604T>C
c.3188T>C (p.Leu1063Pro)
c.1948T>C
c.3368T>C (p.Leu1123Pro)
c.3302T>C (p.Leu1101Pro)
c.3362T>C (p.Leu1121Pro)
c.3308T>C (p.Leu1103Pro)
c.3233T>C (p.Leu1078Pro)
c.2828T>C (p.Leu943Pro)
c.2186T>C (p.Leu729Pro)
n.3611T>C
 dbSNP gnomAD v2
10g.71709164T>GCA377143306CDH23c.3173T>G (p.Leu1058Arg)
c.2604T>G
c.3188T>G (p.Leu1063Arg)
c.1948T>G
c.3368T>G (p.Leu1123Arg)
c.3302T>G (p.Leu1101Arg)
c.3362T>G (p.Leu1121Arg)
c.3308T>G (p.Leu1103Arg)
c.3233T>G (p.Leu1078Arg)
c.2828T>G (p.Leu943Arg)
c.2186T>G (p.Leu729Arg)
n.3611T>G
10g.71709164T=CA1918840889CDH23c.3173T= (p.Leu1058=)
c.2604T=
c.3188T= (p.Leu1063=)
c.1948T=
c.3368T= (p.Leu1123=)
c.3302T= (p.Leu1101=)
c.3362T= (p.Leu1121=)
c.3308T= (p.Leu1103=)
c.3233T= (p.Leu1078=)
c.2828T= (p.Leu943=)
c.2186T= (p.Leu729=)
n.3611T=
10g.71709165G>ACA470062404CDH23c.3174G>A (p.Leu1058=)
c.2605G>A
c.3189G>A (p.Leu1063=)
c.1949G>A
c.3369G>A (p.Leu1123=)
c.3303G>A (p.Leu1101=)
c.3363G>A (p.Leu1121=)
c.3309G>A (p.Leu1103=)
c.3234G>A (p.Leu1078=)
c.2829G>A (p.Leu943=)
c.2187G>A (p.Leu729=)
n.3612G>A
10g.71709165G>CCA470062405CDH23c.3174G>C (p.Leu1058=)
c.2605G>C
c.3189G>C (p.Leu1063=)
c.1949G>C
c.3369G>C (p.Leu1123=)
c.3303G>C (p.Leu1101=)
c.3363G>C (p.Leu1121=)
c.3309G>C (p.Leu1103=)
c.3234G>C (p.Leu1078=)
c.2829G>C (p.Leu943=)
c.2187G>C (p.Leu729=)
n.3612G>C
10g.71709165G>TCA470062406CDH23c.3174G>T (p.Leu1058=)
c.2605G>T
c.3189G>T (p.Leu1063=)
c.1949G>T
c.3369G>T (p.Leu1123=)
c.3303G>T (p.Leu1101=)
c.3363G>T (p.Leu1121=)
c.3309G>T (p.Leu1103=)
c.3234G>T (p.Leu1078=)
c.2829G>T (p.Leu943=)
c.2187G>T (p.Leu729=)
n.3612G>T
10g.71709166G>ACA377143309CDH23c.3175G>A (p.Asp1059Asn)
c.2606G>A
c.3190G>A (p.Asp1064Asn)
c.1950G>A
c.3370G>A (p.Asp1124Asn)
c.3304G>A (p.Asp1102Asn)
c.3364G>A (p.Asp1122Asn)
c.3310G>A (p.Asp1104Asn)
c.3235G>A (p.Asp1079Asn)
c.2830G>A (p.Asp944Asn)
c.2188G>A (p.Asp730Asn)
n.3613G>A
 gnomAD v4
10g.71709166G>CCA377143310CDH23c.3175G>C (p.Asp1059His)
c.2606G>C
c.3190G>C (p.Asp1064His)
c.1950G>C
c.3370G>C (p.Asp1124His)
c.3304G>C (p.Asp1102His)
c.3364G>C (p.Asp1122His)
c.3310G>C (p.Asp1104His)
c.3235G>C (p.Asp1079His)
c.2830G>C (p.Asp944His)
c.2188G>C (p.Asp730His)
n.3613G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71709166G=CA1918840894CDH23c.3175G= (p.Asp1059=)
c.2606G=
c.3190G= (p.Asp1064=)
c.1950G=
c.3370G= (p.Asp1124=)
c.3304G= (p.Asp1102=)
c.3364G= (p.Asp1122=)
c.3310G= (p.Asp1104=)
c.3235G= (p.Asp1079=)
c.2830G= (p.Asp944=)
c.2188G= (p.Asp730=)
n.3613G=
10g.71709166G>TCA377143311CDH23c.3175G>T (p.Asp1059Tyr)
c.2606G>T
c.3190G>T (p.Asp1064Tyr)
c.1950G>T
c.3370G>T (p.Asp1124Tyr)
c.3304G>T (p.Asp1102Tyr)
c.3364G>T (p.Asp1122Tyr)
c.3310G>T (p.Asp1104Tyr)
c.3235G>T (p.Asp1079Tyr)
c.2830G>T (p.Asp944Tyr)
c.2188G>T (p.Asp730Tyr)
n.3613G>T
10g.71709167A=CA1918840900CDH23c.3176A= (p.Asp1059=)
c.2607A=
c.3191A= (p.Asp1064=)
c.1951A=
c.3371A= (p.Asp1124=)
c.3305A= (p.Asp1102=)
c.3365A= (p.Asp1122=)
c.3311A= (p.Asp1104=)
c.3236A= (p.Asp1079=)
c.2831A= (p.Asp944=)
c.2189A= (p.Asp730=)
n.3614A=
10g.71709167A>CCA377143313CDH23c.3176A>C (p.Asp1059Ala)
c.2607A>C
c.3191A>C (p.Asp1064Ala)
c.1951A>C
c.3371A>C (p.Asp1124Ala)
c.3305A>C (p.Asp1102Ala)
c.3365A>C (p.Asp1122Ala)
c.3311A>C (p.Asp1104Ala)
c.3236A>C (p.Asp1079Ala)
c.2831A>C (p.Asp944Ala)
c.2189A>C (p.Asp730Ala)
n.3614A>C
10g.71709167A>GCA377143315CDH23c.3176A>G (p.Asp1059Gly)
c.2607A>G
c.3191A>G (p.Asp1064Gly)
c.1951A>G
c.3371A>G (p.Asp1124Gly)
c.3305A>G (p.Asp1102Gly)
c.3365A>G (p.Asp1122Gly)
c.3311A>G (p.Asp1104Gly)
c.3236A>G (p.Asp1079Gly)
c.2831A>G (p.Asp944Gly)
c.2189A>G (p.Asp730Gly)
n.3614A>G
10g.71709167A>TCA377143317CDH23c.3176A>T (p.Asp1059Val)
c.2607A>T
c.3191A>T (p.Asp1064Val)
c.1951A>T
c.3371A>T (p.Asp1124Val)
c.3305A>T (p.Asp1102Val)
c.3365A>T (p.Asp1122Val)
c.3311A>T (p.Asp1104Val)
c.3236A>T (p.Asp1079Val)
c.2831A>T (p.Asp944Val)
c.2189A>T (p.Asp730Val)
n.3614A>T
 ClinVar dbSNP
10g.71709168C>ACA377143318CDH23c.3177C>A (p.Asp1059Glu)
c.2608C>A
c.3192C>A (p.Asp1064Glu)
c.1952C>A
c.3372C>A (p.Asp1124Glu)
c.3306C>A (p.Asp1102Glu)
c.3366C>A (p.Asp1122Glu)
c.3312C>A (p.Asp1104Glu)
c.3237C>A (p.Asp1079Glu)
c.2832C>A (p.Asp944Glu)
c.2190C>A (p.Asp730Glu)
n.3615C>A
10g.71709168C=CA1918840903CDH23c.3177C= (p.Asp1059=)
c.2608C=
c.3192C= (p.Asp1064=)
c.1952C=
c.3372C= (p.Asp1124=)
c.3306C= (p.Asp1102=)
c.3366C= (p.Asp1122=)
c.3312C= (p.Asp1104=)
c.3237C= (p.Asp1079=)
c.2832C= (p.Asp944=)
c.2190C= (p.Asp730=)
n.3615C=
10g.71709168C>GCA377143319CDH23c.3177C>G (p.Asp1059Glu)
c.2608C>G
c.3192C>G (p.Asp1064Glu)
c.1952C>G
c.3372C>G (p.Asp1124Glu)
c.3306C>G (p.Asp1102Glu)
c.3366C>G (p.Asp1122Glu)
c.3312C>G (p.Asp1104Glu)
c.3237C>G (p.Asp1079Glu)
c.2832C>G (p.Asp944Glu)
c.2190C>G (p.Asp730Glu)
n.3615C>G
10g.71709168C>TCA470062407CDH23c.3177C>T (p.Asp1059=)
c.2608C>T
c.3192C>T (p.Asp1064=)
c.1952C>T
c.3372C>T (p.Asp1124=)
c.3306C>T (p.Asp1102=)
c.3366C>T (p.Asp1122=)
c.3312C>T (p.Asp1104=)
c.3237C>T (p.Asp1079=)
c.2832C>T (p.Asp944=)
c.2190C>T (p.Asp730=)
n.3615C>T
 ClinVar dbSNP
10g.71709169C>ACA209462174CDH23c.3178C>A (p.Arg1060=)
c.2609C>A
c.3193C>A (p.Arg1065=)
c.1953C>A
c.3373C>A (p.Arg1125=)
c.3307C>A (p.Arg1103=)
c.3367C>A (p.Arg1123=)
c.3313C>A (p.Arg1105=)
c.3238C>A (p.Arg1080=)
c.2833C>A (p.Arg945=)
c.2191C>A (p.Arg731=)
n.3616C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71709169C=CA1918840907CDH23c.3178C= (p.Arg1060=)
c.2609C=
c.3193C= (p.Arg1065=)
c.1953C=
c.3373C= (p.Arg1125=)
c.3307C= (p.Arg1103=)
c.3367C= (p.Arg1123=)
c.3313C= (p.Arg1105=)
c.3238C= (p.Arg1080=)
c.2833C= (p.Arg945=)
c.2191C= (p.Arg731=)
n.3616C=
10g.71709169C>GCA377143320CDH23c.3178C>G (p.Arg1060Gly)
c.2609C>G
c.3193C>G (p.Arg1065Gly)
c.1953C>G
c.3373C>G (p.Arg1125Gly)
c.3307C>G (p.Arg1103Gly)
c.3367C>G (p.Arg1123Gly)
c.3313C>G (p.Arg1105Gly)
c.3238C>G (p.Arg1080Gly)
c.2833C>G (p.Arg945Gly)
c.2191C>G (p.Arg731Gly)
n.3616C>G
 gnomAD v4
10g.71709169C>TCA5544502CDH23c.3178C>T (p.Arg1060Trp)
c.2609C>T
c.3193C>T (p.Arg1065Trp)
c.1953C>T
c.3373C>T (p.Arg1125Trp)
c.3307C>T (p.Arg1103Trp)
c.3367C>T (p.Arg1123Trp)
c.3313C>T (p.Arg1105Trp)
c.3238C>T (p.Arg1080Trp)
c.2833C>T (p.Arg945Trp)
c.2191C>T (p.Arg731Trp)
n.3616C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709170G>ACA5544503CDH23c.3179G>A (p.Arg1060Gln)
c.2610G>A
c.3194G>A (p.Arg1065Gln)
c.1954G>A
c.3374G>A (p.Arg1125Gln)
c.3308G>A (p.Arg1103Gln)
c.3368G>A (p.Arg1123Gln)
c.3314G>A (p.Arg1105Gln)
c.3239G>A (p.Arg1080Gln)
c.2834G>A (p.Arg945Gln)
c.2192G>A (p.Arg731Gln)
n.3617G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709170G>CCA5544504CDH23c.3179G>C (p.Arg1060Pro)
c.2610G>C
c.3194G>C (p.Arg1065Pro)
c.1954G>C
c.3374G>C (p.Arg1125Pro)
c.3308G>C (p.Arg1103Pro)
c.3368G>C (p.Arg1123Pro)
c.3314G>C (p.Arg1105Pro)
c.3239G>C (p.Arg1080Pro)
c.2834G>C (p.Arg945Pro)
c.2192G>C (p.Arg731Pro)
n.3617G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709170G=CA1918840914CDH23c.3179G= (p.Arg1060=)
c.2610G=
c.3194G= (p.Arg1065=)
c.1954G=
c.3374G= (p.Arg1125=)
c.3308G= (p.Arg1103=)
c.3368G= (p.Arg1123=)
c.3314G= (p.Arg1105=)
c.3239G= (p.Arg1080=)
c.2834G= (p.Arg945=)
c.2192G= (p.Arg731=)
n.3617G=
10g.71709170G>TCA377143323CDH23c.3179G>T (p.Arg1060Leu)
c.2610G>T
c.3194G>T (p.Arg1065Leu)
c.1954G>T
c.3374G>T (p.Arg1125Leu)
c.3308G>T (p.Arg1103Leu)
c.3368G>T (p.Arg1123Leu)
c.3314G>T (p.Arg1105Leu)
c.3239G>T (p.Arg1080Leu)
c.2834G>T (p.Arg945Leu)
c.2192G>T (p.Arg731Leu)
n.3617G>T
 gnomAD v4 COSMIC
10g.71709171G>ACA470062408CDH23c.3180G>A (p.Arg1060=)
c.2611G>A
c.3195G>A (p.Arg1065=)
c.1955G>A
c.3375G>A (p.Arg1125=)
c.3309G>A (p.Arg1103=)
c.3369G>A (p.Arg1123=)
c.3315G>A (p.Arg1105=)
c.3240G>A (p.Arg1080=)
c.2835G>A (p.Arg945=)
c.2193G>A (p.Arg731=)
n.3618G>A
10g.71709171G>CCA470062409CDH23c.3180G>C (p.Arg1060=)
c.2611G>C
c.3195G>C (p.Arg1065=)
c.1955G>C
c.3375G>C (p.Arg1125=)
c.3309G>C (p.Arg1103=)
c.3369G>C (p.Arg1123=)
c.3315G>C (p.Arg1105=)
c.3240G>C (p.Arg1080=)
c.2835G>C (p.Arg945=)
c.2193G>C (p.Arg731=)
n.3618G>C
10g.71709171G>TCA470062410CDH23c.3180G>T (p.Arg1060=)
c.2611G>T
c.3195G>T (p.Arg1065=)
c.1955G>T
c.3375G>T (p.Arg1125=)
c.3309G>T (p.Arg1103=)
c.3369G>T (p.Arg1123=)
c.3315G>T (p.Arg1105=)
c.3240G>T (p.Arg1080=)
c.2835G>T (p.Arg945=)
c.2193G>T (p.Arg731=)
n.3618G>T
10g.71709172G>ACA16609571CDH23c.3181G>A (p.Glu1061Lys)
c.2612G>A
c.3196G>A (p.Glu1066Lys)
c.1956G>A
c.3376G>A (p.Glu1126Lys)
c.3310G>A (p.Glu1104Lys)
c.3370G>A (p.Glu1124Lys)
c.3316G>A (p.Glu1106Lys)
c.3241G>A (p.Glu1081Lys)
c.2836G>A (p.Glu946Lys)
c.2194G>A (p.Glu732Lys)
n.3619G>A
 ClinVar dbSNP
10g.71709172G>CCA377143326CDH23c.3181G>C (p.Glu1061Gln)
c.2612G>C
c.3196G>C (p.Glu1066Gln)
c.1956G>C
c.3376G>C (p.Glu1126Gln)
c.3310G>C (p.Glu1104Gln)
c.3370G>C (p.Glu1124Gln)
c.3316G>C (p.Glu1106Gln)
c.3241G>C (p.Glu1081Gln)
c.2836G>C (p.Glu946Gln)
c.2194G>C (p.Glu732Gln)
n.3619G>C
10g.71709172G=CA1918840924CDH23c.3181G= (p.Glu1061=)
c.2612G=
c.3196G= (p.Glu1066=)
c.1956G=
c.3376G= (p.Glu1126=)
c.3310G= (p.Glu1104=)
c.3370G= (p.Glu1124=)
c.3316G= (p.Glu1106=)
c.3241G= (p.Glu1081=)
c.2836G= (p.Glu946=)
c.2194G= (p.Glu732=)
n.3619G=
10g.71709172G>TCA377143328CDH23c.3181G>T (p.Glu1061Ter)
c.2612G>T
c.3196G>T (p.Glu1066Ter)
c.1956G>T
c.3376G>T (p.Glu1126Ter)
c.3310G>T (p.Glu1104Ter)
c.3370G>T (p.Glu1124Ter)
c.3316G>T (p.Glu1106Ter)
c.3241G>T (p.Glu1081Ter)
c.2836G>T (p.Glu946Ter)
c.2194G>T (p.Glu732Ter)
n.3619G>T
10g.71709173A>CCA377143329CDH23c.3182A>C (p.Glu1061Ala)
c.2613A>C
c.3197A>C (p.Glu1066Ala)
c.1957A>C
c.3377A>C (p.Glu1126Ala)
c.3311A>C (p.Glu1104Ala)
c.3371A>C (p.Glu1124Ala)
c.3317A>C (p.Glu1106Ala)
c.3242A>C (p.Glu1081Ala)
c.2837A>C (p.Glu946Ala)
c.2195A>C (p.Glu732Ala)
n.3620A>C
10g.71709173A>GCA377143330CDH23c.3182A>G (p.Glu1061Gly)
c.2613A>G
c.3197A>G (p.Glu1066Gly)
c.1957A>G
c.3377A>G (p.Glu1126Gly)
c.3311A>G (p.Glu1104Gly)
c.3371A>G (p.Glu1124Gly)
c.3317A>G (p.Glu1106Gly)
c.3242A>G (p.Glu1081Gly)
c.2837A>G (p.Glu946Gly)
c.2195A>G (p.Glu732Gly)
n.3620A>G
10g.71709173A>TCA377143332CDH23c.3182A>T (p.Glu1061Val)
c.2613A>T
c.3197A>T (p.Glu1066Val)
c.1957A>T
c.3377A>T (p.Glu1126Val)
c.3311A>T (p.Glu1104Val)
c.3371A>T (p.Glu1124Val)
c.3317A>T (p.Glu1106Val)
c.3242A>T (p.Glu1081Val)
c.2837A>T (p.Glu946Val)
c.2195A>T (p.Glu732Val)
n.3620A>T
10g.71709174G>ACA470062411CDH23c.3183G>A (p.Glu1061=)
c.2614G>A
c.3198G>A (p.Glu1066=)
c.1958G>A
c.3378G>A (p.Glu1126=)
c.3312G>A (p.Glu1104=)
c.3372G>A (p.Glu1124=)
c.3318G>A (p.Glu1106=)
c.3243G>A (p.Glu1081=)
c.2838G>A (p.Glu946=)
c.2196G>A (p.Glu732=)
n.3621G>A
10g.71709174G>CCA5544505CDH23c.3183G>C (p.Glu1061Asp)
c.2614G>C
c.3198G>C (p.Glu1066Asp)
c.1958G>C
c.3378G>C (p.Glu1126Asp)
c.3312G>C (p.Glu1104Asp)
c.3372G>C (p.Glu1124Asp)
c.3318G>C (p.Glu1106Asp)
c.3243G>C (p.Glu1081Asp)
c.2838G>C (p.Glu946Asp)
c.2196G>C (p.Glu732Asp)
n.3621G>C
 ClinVar dbSNP ExAC gnomAD v2
10g.71709174G=CA1918840930CDH23c.3183G= (p.Glu1061=)
c.2614G=
c.3198G= (p.Glu1066=)
c.1958G=
c.3378G= (p.Glu1126=)
c.3312G= (p.Glu1104=)
c.3372G= (p.Glu1124=)
c.3318G= (p.Glu1106=)
c.3243G= (p.Glu1081=)
c.2838G= (p.Glu946=)
c.2196G= (p.Glu732=)
n.3621G=
10g.71709174G>TCA377143335CDH23c.3183G>T (p.Glu1061Asp)
c.2614G>T
c.3198G>T (p.Glu1066Asp)
c.1958G>T
c.3378G>T (p.Glu1126Asp)
c.3312G>T (p.Glu1104Asp)
c.3372G>T (p.Glu1124Asp)
c.3318G>T (p.Glu1106Asp)
c.3243G>T (p.Glu1081Asp)
c.2838G>T (p.Glu946Asp)
c.2196G>T (p.Glu732Asp)
n.3621G>T
10g.71709175A>CCA377143336CDH23c.3184A>C (p.Thr1062Pro)
c.2615A>C
c.3199A>C (p.Thr1067Pro)
c.1959A>C
c.3379A>C (p.Thr1127Pro)
c.3313A>C (p.Thr1105Pro)
c.3373A>C (p.Thr1125Pro)
c.3319A>C (p.Thr1107Pro)
c.3244A>C (p.Thr1082Pro)
c.2839A>C (p.Thr947Pro)
c.2197A>C (p.Thr733Pro)
n.3622A>C
 gnomAD v4
10g.71709175A>GCA377143337CDH23c.3184A>G (p.Thr1062Ala)
c.2615A>G
c.3199A>G (p.Thr1067Ala)
c.1959A>G
c.3379A>G (p.Thr1127Ala)
c.3313A>G (p.Thr1105Ala)
c.3373A>G (p.Thr1125Ala)
c.3319A>G (p.Thr1107Ala)
c.3244A>G (p.Thr1082Ala)
c.2839A>G (p.Thr947Ala)
c.2197A>G (p.Thr733Ala)
n.3622A>G
10g.71709175A>TCA377143338CDH23c.3184A>T (p.Thr1062Ser)
c.2615A>T
c.3199A>T (p.Thr1067Ser)
c.1959A>T
c.3379A>T (p.Thr1127Ser)
c.3313A>T (p.Thr1105Ser)
c.3373A>T (p.Thr1125Ser)
c.3319A>T (p.Thr1107Ser)
c.3244A>T (p.Thr1082Ser)
c.2839A>T (p.Thr947Ser)
c.2197A>T (p.Thr733Ser)
n.3622A>T
10g.71709176C>ACA377143341CDH23c.3185C>A (p.Thr1062Asn)
c.2616C>A
c.3200C>A (p.Thr1067Asn)
c.1960C>A
c.3380C>A (p.Thr1127Asn)
c.3314C>A (p.Thr1105Asn)
c.3374C>A (p.Thr1125Asn)
c.3320C>A (p.Thr1107Asn)
c.3245C>A (p.Thr1082Asn)
c.2840C>A (p.Thr947Asn)
c.2198C>A (p.Thr733Asn)
n.3623C>A
10g.71709176C=CA1918840935CDH23c.3185C= (p.Thr1062=)
c.2616C=
c.3200C= (p.Thr1067=)
c.1960C=
c.3380C= (p.Thr1127=)
c.3314C= (p.Thr1105=)
c.3374C= (p.Thr1125=)
c.3320C= (p.Thr1107=)
c.3245C= (p.Thr1082=)
c.2840C= (p.Thr947=)
c.2198C= (p.Thr733=)
n.3623C=
10g.71709176C>GCA377143342CDH23c.3185C>G (p.Thr1062Ser)
c.2616C>G
c.3200C>G (p.Thr1067Ser)
c.1960C>G
c.3380C>G (p.Thr1127Ser)
c.3314C>G (p.Thr1105Ser)
c.3374C>G (p.Thr1125Ser)
c.3320C>G (p.Thr1107Ser)
c.3245C>G (p.Thr1082Ser)
c.2840C>G (p.Thr947Ser)
c.2198C>G (p.Thr733Ser)
n.3623C>G
10g.71709176C>TCA377143339CDH23c.3185C>T (p.Thr1062Ile)
c.2616C>T
c.3200C>T (p.Thr1067Ile)
c.1960C>T
c.3380C>T (p.Thr1127Ile)
c.3314C>T (p.Thr1105Ile)
c.3374C>T (p.Thr1125Ile)
c.3320C>T (p.Thr1107Ile)
c.3245C>T (p.Thr1082Ile)
c.2840C>T (p.Thr947Ile)
c.2198C>T (p.Thr733Ile)
n.3623C>T
 dbSNP
10g.71709177C>ACA5544506CDH23c.3186C>A (p.Thr1062=)
c.2617C>A
c.3201C>A (p.Thr1067=)
c.1961C>A
c.3381C>A (p.Thr1127=)
c.3315C>A (p.Thr1105=)
c.3375C>A (p.Thr1125=)
c.3321C>A (p.Thr1107=)
c.3246C>A (p.Thr1082=)
c.2841C>A (p.Thr947=)
c.2199C>A (p.Thr733=)
n.3624C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709177C=CA1918840940CDH23c.3186C= (p.Thr1062=)
c.2617C=
c.3201C= (p.Thr1067=)
c.1961C=
c.3381C= (p.Thr1127=)
c.3315C= (p.Thr1105=)
c.3375C= (p.Thr1125=)
c.3321C= (p.Thr1107=)
c.3246C= (p.Thr1082=)
c.2841C= (p.Thr947=)
c.2199C= (p.Thr733=)
n.3624C=
10g.71709177C>GCA470062412CDH23c.3186C>G (p.Thr1062=)
c.2617C>G
c.3201C>G (p.Thr1067=)
c.1961C>G
c.3381C>G (p.Thr1127=)
c.3315C>G (p.Thr1105=)
c.3375C>G (p.Thr1125=)
c.3321C>G (p.Thr1107=)
c.3246C>G (p.Thr1082=)
c.2841C>G (p.Thr947=)
c.2199C>G (p.Thr733=)
n.3624C>G
10g.71709177C>TCA5544507CDH23c.3186C>T (p.Thr1062=)
c.2617C>T
c.3201C>T (p.Thr1067=)
c.1961C>T
c.3381C>T (p.Thr1127=)
c.3315C>T (p.Thr1105=)
c.3375C>T (p.Thr1125=)
c.3321C>T (p.Thr1107=)
c.3246C>T (p.Thr1082=)
c.2841C>T (p.Thr947=)
c.2199C>T (p.Thr733=)
n.3624C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709178A=CA1918840953CDH23c.3187A= (p.Thr1063=)
c.2618A=
c.3202A= (p.Thr1068=)
c.1962A=
c.3382A= (p.Thr1128=)
c.3316A= (p.Thr1106=)
c.3376A= (p.Thr1126=)
c.3322A= (p.Thr1108=)
c.3247A= (p.Thr1083=)
c.2842A= (p.Thr948=)
c.2200A= (p.Thr734=)
n.3625A=
10g.71709178A>CCA377143344CDH23c.3187A>C (p.Thr1063Pro)
c.2618A>C
c.3202A>C (p.Thr1068Pro)
c.1962A>C
c.3382A>C (p.Thr1128Pro)
c.3316A>C (p.Thr1106Pro)
c.3376A>C (p.Thr1126Pro)
c.3322A>C (p.Thr1108Pro)
c.3247A>C (p.Thr1083Pro)
c.2842A>C (p.Thr948Pro)
c.2200A>C (p.Thr734Pro)
n.3625A>C
10g.71709178A>GCA377143345CDH23c.3187A>G (p.Thr1063Ala)
c.2618A>G
c.3202A>G (p.Thr1068Ala)
c.1962A>G
c.3382A>G (p.Thr1128Ala)
c.3316A>G (p.Thr1106Ala)
c.3376A>G (p.Thr1126Ala)
c.3322A>G (p.Thr1108Ala)
c.3247A>G (p.Thr1083Ala)
c.2842A>G (p.Thr948Ala)
c.2200A>G (p.Thr734Ala)
n.3625A>G
10g.71709178A>TCA377143347CDH23c.3187A>T (p.Thr1063Ser)
c.2618A>T
c.3202A>T (p.Thr1068Ser)
c.1962A>T
c.3382A>T (p.Thr1128Ser)
c.3316A>T (p.Thr1106Ser)
c.3376A>T (p.Thr1126Ser)
c.3322A>T (p.Thr1108Ser)
c.3247A>T (p.Thr1083Ser)
c.2842A>T (p.Thr948Ser)
c.2200A>T (p.Thr734Ser)
n.3625A>T
 dbSNP gnomAD v3 gnomAD v4
10g.71709179C>ACA377143349CDH23c.3188C>A (p.Thr1063Lys)
c.2619C>A
c.3203C>A (p.Thr1068Lys)
c.1963C>A
c.3383C>A (p.Thr1128Lys)
c.3317C>A (p.Thr1106Lys)
c.3377C>A (p.Thr1126Lys)
c.3323C>A (p.Thr1108Lys)
c.3248C>A (p.Thr1083Lys)
c.2843C>A (p.Thr948Lys)
c.2201C>A (p.Thr734Lys)
n.3626C>A
10g.71709179C>GCA377143350CDH23c.3188C>G (p.Thr1063Arg)
c.2619C>G
c.3203C>G (p.Thr1068Arg)
c.1963C>G
c.3383C>G (p.Thr1128Arg)
c.3317C>G (p.Thr1106Arg)
c.3377C>G (p.Thr1126Arg)
c.3323C>G (p.Thr1108Arg)
c.3248C>G (p.Thr1083Arg)
c.2843C>G (p.Thr948Arg)
c.2201C>G (p.Thr734Arg)
n.3626C>G
10g.71709179C>TCA377143351CDH23c.3188C>T (p.Thr1063Ile)
c.2619C>T
c.3203C>T (p.Thr1068Ile)
c.1963C>T
c.3383C>T (p.Thr1128Ile)
c.3317C>T (p.Thr1106Ile)
c.3377C>T (p.Thr1126Ile)
c.3323C>T (p.Thr1108Ile)
c.3248C>T (p.Thr1083Ile)
c.2843C>T (p.Thr948Ile)
c.2201C>T (p.Thr734Ile)
n.3626C>T
10g.71709180A=CA1918840959CDH23c.3189A= (p.Thr1063=)
c.2620A=
c.3204A= (p.Thr1068=)
c.1964A=
c.3384A= (p.Thr1128=)
c.3318A= (p.Thr1106=)
c.3378A= (p.Thr1126=)
c.3324A= (p.Thr1108=)
c.3249A= (p.Thr1083=)
c.2844A= (p.Thr948=)
c.2202A= (p.Thr734=)
n.3627A=
10g.71709180A>CCA470062413CDH23c.3189A>C (p.Thr1063=)
c.2620A>C
c.3204A>C (p.Thr1068=)
c.1964A>C
c.3384A>C (p.Thr1128=)
c.3318A>C (p.Thr1106=)
c.3378A>C (p.Thr1126=)
c.3324A>C (p.Thr1108=)
c.3249A>C (p.Thr1083=)
c.2844A>C (p.Thr948=)
c.2202A>C (p.Thr734=)
n.3627A>C
10g.71709180A>GCA470062414CDH23c.3189A>G (p.Thr1063=)
c.2620A>G
c.3204A>G (p.Thr1068=)
c.1964A>G
c.3384A>G (p.Thr1128=)
c.3318A>G (p.Thr1106=)
c.3378A>G (p.Thr1126=)
c.3324A>G (p.Thr1108=)
c.3249A>G (p.Thr1083=)
c.2844A>G (p.Thr948=)
c.2202A>G (p.Thr734=)
n.3627A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71709180A>TCA470062415CDH23c.3189A>T (p.Thr1063=)
c.2620A>T
c.3204A>T (p.Thr1068=)
c.1964A>T
c.3384A>T (p.Thr1128=)
c.3318A>T (p.Thr1106=)
c.3378A>T (p.Thr1126=)
c.3324A>T (p.Thr1108=)
c.3249A>T (p.Thr1083=)
c.2844A>T (p.Thr948=)
c.2202A>T (p.Thr734=)
n.3627A>T
10g.71709181G>ACA377143352CDH23c.3190G>A (p.Ala1064Thr)
c.2621G>A
c.3205G>A (p.Ala1069Thr)
c.1965G>A
c.3385G>A (p.Ala1129Thr)
c.3319G>A (p.Ala1107Thr)
c.3379G>A (p.Ala1127Thr)
c.3325G>A (p.Ala1109Thr)
c.3250G>A (p.Ala1084Thr)
c.2845G>A (p.Ala949Thr)
c.2203G>A (p.Ala735Thr)
n.3628G>A
 COSMIC COSMIC
10g.71709181G>CCA377143354CDH23c.3190G>C (p.Ala1064Pro)
c.2621G>C
c.3205G>C (p.Ala1069Pro)
c.1965G>C
c.3385G>C (p.Ala1129Pro)
c.3319G>C (p.Ala1107Pro)
c.3379G>C (p.Ala1127Pro)
c.3325G>C (p.Ala1109Pro)
c.3250G>C (p.Ala1084Pro)
c.2845G>C (p.Ala949Pro)
c.2203G>C (p.Ala735Pro)
n.3628G>C
10g.71709181G>TCA377143356CDH23c.3190G>T (p.Ala1064Ser)
c.2621G>T
c.3205G>T (p.Ala1069Ser)
c.1965G>T
c.3385G>T (p.Ala1129Ser)
c.3319G>T (p.Ala1107Ser)
c.3379G>T (p.Ala1127Ser)
c.3325G>T (p.Ala1109Ser)
c.3250G>T (p.Ala1084Ser)
c.2845G>T (p.Ala949Ser)
c.2203G>T (p.Ala735Ser)
n.3628G>T

Number of alleles fetched