Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71802868_71802881delinsTACCTTTGGCCTTGCA1918880376CDH23c.7483-30_7483-17delinsTACCTTTGGCCTTG (n.7483-30_7483-17delinsTACCTTTGGCCTTG)
c.1416-30_1416-17delinsTACCTTTGGCCTTG (n.1416-30_1416-17delinsTACCTTTGGCCTTG)
c.1080-30_1080-17delinsTACCTTTGGCCTTG (n.1080-30_1080-17delinsTACCTTTGGCCTTG)
c.7498-30_7498-17delinsTACCTTTGGCCTTG (n.7498-30_7498-17delinsTACCTTTGGCCTTG)
c.763-30_763-17delinsTACCTTTGGCCTTG (n.763-30_763-17delinsTACCTTTGGCCTTG)
n.1019-30_1019-17delinsTACCTTTGGCCTTG
c.7678-30_7678-17delinsTACCTTTGGCCTTG (n.7678-30_7678-17delinsTACCTTTGGCCTTG)
c.7612-30_7612-17delinsTACCTTTGGCCTTG (n.7612-30_7612-17delinsTACCTTTGGCCTTG)
c.7675-30_7675-17delinsTACCTTTGGCCTTG (n.7675-30_7675-17delinsTACCTTTGGCCTTG)
c.7672-30_7672-17delinsTACCTTTGGCCTTG (n.7672-30_7672-17delinsTACCTTTGGCCTTG)
c.7618-30_7618-17delinsTACCTTTGGCCTTG (n.7618-30_7618-17delinsTACCTTTGGCCTTG)
c.7588-30_7588-17delinsTACCTTTGGCCTTG (n.7588-30_7588-17delinsTACCTTTGGCCTTG)
c.7543-30_7543-17delinsTACCTTTGGCCTTG (n.7543-30_7543-17delinsTACCTTTGGCCTTG)
c.7138-30_7138-17delinsTACCTTTGGCCTTG (n.7138-30_7138-17delinsTACCTTTGGCCTTG)
c.6496-30_6496-17delinsTACCTTTGGCCTTG (n.6496-30_6496-17delinsTACCTTTGGCCTTG)
c.4006-30_4006-17delinsTACCTTTGGCCTTG (n.4006-30_4006-17delinsTACCTTTGGCCTTG)
10g.71802873_71802885delCA929794146CDH23c.7483-25_7483-13del (n.7483-25_7483-13del)
c.1416-25_1416-13del (n.1416-25_1416-13del)
c.1080-25_1080-13del (n.1080-25_1080-13del)
c.7498-25_7498-13del (n.7498-25_7498-13del)
c.763-25_763-13del (n.763-25_763-13del)
n.1019-25_1019-13del
c.7678-25_7678-13del (n.7678-25_7678-13del)
c.7612-25_7612-13del (n.7612-25_7612-13del)
c.7675-25_7675-13del (n.7675-25_7675-13del)
c.7672-25_7672-13del (n.7672-25_7672-13del)
c.7618-25_7618-13del (n.7618-25_7618-13del)
c.7588-25_7588-13del (n.7588-25_7588-13del)
c.7543-25_7543-13del (n.7543-25_7543-13del)
c.7138-25_7138-13del (n.7138-25_7138-13del)
c.6496-25_6496-13del (n.6496-25_6496-13del)
c.4006-25_4006-13del (n.4006-25_4006-13del)
 dbSNP gnomAD v3 gnomAD v4
10g.71802876G=CA1918880381CDH23c.7483-22G= (n.7483-22G=)
c.1416-22G= (n.1416-22G=)
c.1080-22G= (n.1080-22G=)
c.7498-22G= (n.7498-22G=)
c.763-22G= (n.763-22G=)
n.1019-22G=
c.7678-22G= (n.7678-22G=)
c.7612-22G= (n.7612-22G=)
c.7675-22G= (n.7675-22G=)
c.7672-22G= (n.7672-22G=)
c.7618-22G= (n.7618-22G=)
c.7588-22G= (n.7588-22G=)
c.7543-22G= (n.7543-22G=)
c.7138-22G= (n.7138-22G=)
c.6496-22G= (n.6496-22G=)
c.4006-22G= (n.4006-22G=)
10g.71802876G>TCA209472369CDH23c.7483-22G>T (n.7483-22G>T)
c.1416-22G>T (n.1416-22G>T)
c.1080-22G>T (n.1080-22G>T)
c.7498-22G>T (n.7498-22G>T)
c.763-22G>T (n.763-22G>T)
n.1019-22G>T
c.7678-22G>T (n.7678-22G>T)
c.7612-22G>T (n.7612-22G>T)
c.7675-22G>T (n.7675-22G>T)
c.7672-22G>T (n.7672-22G>T)
c.7618-22G>T (n.7618-22G>T)
c.7588-22G>T (n.7588-22G>T)
c.7543-22G>T (n.7543-22G>T)
c.7138-22G>T (n.7138-22G>T)
c.6496-22G>T (n.6496-22G>T)
c.4006-22G>T (n.4006-22G>T)
 dbSNP gnomAD v3 gnomAD v4
10g.71802877C>TCA2609580199CDH23c.7483-21C>T (n.7483-21C>T)
c.1416-21C>T (n.1416-21C>T)
c.1080-21C>T (n.1080-21C>T)
c.7498-21C>T (n.7498-21C>T)
c.763-21C>T (n.763-21C>T)
n.1019-21C>T
c.7678-21C>T (n.7678-21C>T)
c.7612-21C>T (n.7612-21C>T)
c.7675-21C>T (n.7675-21C>T)
c.7672-21C>T (n.7672-21C>T)
c.7618-21C>T (n.7618-21C>T)
c.7588-21C>T (n.7588-21C>T)
c.7543-21C>T (n.7543-21C>T)
c.7138-21C>T (n.7138-21C>T)
c.6496-21C>T (n.6496-21C>T)
c.4006-21C>T (n.4006-21C>T)
 gnomAD v4
10g.71802881G>ACA668115872CDH23c.7483-17G>A (n.7483-17G>A)
c.1416-17G>A (n.1416-17G>A)
c.1080-17G>A (n.1080-17G>A)
c.7498-17G>A (n.7498-17G>A)
c.763-17G>A (n.763-17G>A)
n.1019-17G>A
c.7678-17G>A (n.7678-17G>A)
c.7612-17G>A (n.7612-17G>A)
c.7675-17G>A (n.7675-17G>A)
c.7672-17G>A (n.7672-17G>A)
c.7618-17G>A (n.7618-17G>A)
c.7588-17G>A (n.7588-17G>A)
c.7543-17G>A (n.7543-17G>A)
c.7138-17G>A (n.7138-17G>A)
c.6496-17G>A (n.6496-17G>A)
c.4006-17G>A (n.4006-17G>A)
 dbSNP
10g.71802881G>CCA2609580203CDH23c.7483-17G>C (n.7483-17G>C)
c.1416-17G>C (n.1416-17G>C)
c.1080-17G>C (n.1080-17G>C)
c.7498-17G>C (n.7498-17G>C)
c.763-17G>C (n.763-17G>C)
n.1019-17G>C
c.7678-17G>C (n.7678-17G>C)
c.7612-17G>C (n.7612-17G>C)
c.7675-17G>C (n.7675-17G>C)
c.7672-17G>C (n.7672-17G>C)
c.7618-17G>C (n.7618-17G>C)
c.7588-17G>C (n.7588-17G>C)
c.7543-17G>C (n.7543-17G>C)
c.7138-17G>C (n.7138-17G>C)
c.6496-17G>C (n.6496-17G>C)
c.4006-17G>C (n.4006-17G>C)
 dbSNP gnomAD v4
10g.71802881G=CA1918880382CDH23c.7483-17G= (n.7483-17G=)
c.1416-17G= (n.1416-17G=)
c.1080-17G= (n.1080-17G=)
c.7498-17G= (n.7498-17G=)
c.763-17G= (n.763-17G=)
n.1019-17G=
c.7678-17G= (n.7678-17G=)
c.7612-17G= (n.7612-17G=)
c.7675-17G= (n.7675-17G=)
c.7672-17G= (n.7672-17G=)
c.7618-17G= (n.7618-17G=)
c.7588-17G= (n.7588-17G=)
c.7543-17G= (n.7543-17G=)
c.7138-17G= (n.7138-17G=)
c.6496-17G= (n.6496-17G=)
c.4006-17G= (n.4006-17G=)
10g.71802881G>TCA2609580206CDH23c.7483-17G>T (n.7483-17G>T)
c.1416-17G>T (n.1416-17G>T)
c.1080-17G>T (n.1080-17G>T)
c.7498-17G>T (n.7498-17G>T)
c.763-17G>T (n.763-17G>T)
n.1019-17G>T
c.7678-17G>T (n.7678-17G>T)
c.7612-17G>T (n.7612-17G>T)
c.7675-17G>T (n.7675-17G>T)
c.7672-17G>T (n.7672-17G>T)
c.7618-17G>T (n.7618-17G>T)
c.7588-17G>T (n.7588-17G>T)
c.7543-17G>T (n.7543-17G>T)
c.7138-17G>T (n.7138-17G>T)
c.6496-17G>T (n.6496-17G>T)
c.4006-17G>T (n.4006-17G>T)
 gnomAD v4
10g.71802882A>GCA2739275811CDH23c.7483-16A>G (n.7483-16A>G)
c.1416-16A>G (n.1416-16A>G)
c.1080-16A>G (n.1080-16A>G)
c.7498-16A>G (n.7498-16A>G)
c.763-16A>G (n.763-16A>G)
n.1019-16A>G
c.7678-16A>G (n.7678-16A>G)
c.7612-16A>G (n.7612-16A>G)
c.7675-16A>G (n.7675-16A>G)
c.7672-16A>G (n.7672-16A>G)
c.7618-16A>G (n.7618-16A>G)
c.7588-16A>G (n.7588-16A>G)
c.7543-16A>G (n.7543-16A>G)
c.7138-16A>G (n.7138-16A>G)
c.6496-16A>G (n.6496-16A>G)
c.4006-16A>G (n.4006-16A>G)
 ClinVar
10g.71802882A>TCA2722283630CDH23c.7483-16A>T (n.7483-16A>T)
c.1416-16A>T (n.1416-16A>T)
c.1080-16A>T (n.1080-16A>T)
c.7498-16A>T (n.7498-16A>T)
c.763-16A>T (n.763-16A>T)
n.1019-16A>T
c.7678-16A>T (n.7678-16A>T)
c.7612-16A>T (n.7612-16A>T)
c.7675-16A>T (n.7675-16A>T)
c.7672-16A>T (n.7672-16A>T)
c.7618-16A>T (n.7618-16A>T)
c.7588-16A>T (n.7588-16A>T)
c.7543-16A>T (n.7543-16A>T)
c.7138-16A>T (n.7138-16A>T)
c.6496-16A>T (n.6496-16A>T)
c.4006-16A>T (n.4006-16A>T)
 dbSNP
10g.71802883C>ACA1918880384CDH23c.7483-15C>A (n.7483-15C>A)
c.1416-15C>A (n.1416-15C>A)
c.1080-15C>A (n.1080-15C>A)
c.7498-15C>A (n.7498-15C>A)
c.763-15C>A (n.763-15C>A)
n.1019-15C>A
c.7678-15C>A (n.7678-15C>A)
c.7612-15C>A (n.7612-15C>A)
c.7675-15C>A (n.7675-15C>A)
c.7672-15C>A (n.7672-15C>A)
c.7618-15C>A (n.7618-15C>A)
c.7588-15C>A (n.7588-15C>A)
c.7543-15C>A (n.7543-15C>A)
c.7138-15C>A (n.7138-15C>A)
c.6496-15C>A (n.6496-15C>A)
c.4006-15C>A (n.4006-15C>A)
 dbSNP gnomAD v4
10g.71802883C=CA1918880383CDH23c.7483-15C= (n.7483-15C=)
c.1416-15C= (n.1416-15C=)
c.1080-15C= (n.1080-15C=)
c.7498-15C= (n.7498-15C=)
c.763-15C= (n.763-15C=)
n.1019-15C=
c.7678-15C= (n.7678-15C=)
c.7612-15C= (n.7612-15C=)
c.7675-15C= (n.7675-15C=)
c.7672-15C= (n.7672-15C=)
c.7618-15C= (n.7618-15C=)
c.7588-15C= (n.7588-15C=)
c.7543-15C= (n.7543-15C=)
c.7138-15C= (n.7138-15C=)
c.6496-15C= (n.6496-15C=)
c.4006-15C= (n.4006-15C=)
10g.71802885T>GCA2609580211CDH23c.7483-13T>G (n.7483-13T>G)
c.1416-13T>G (n.1416-13T>G)
c.1080-13T>G (n.1080-13T>G)
c.7498-13T>G (n.7498-13T>G)
c.763-13T>G (n.763-13T>G)
n.1019-13T>G
c.7678-13T>G (n.7678-13T>G)
c.7612-13T>G (n.7612-13T>G)
c.7675-13T>G (n.7675-13T>G)
c.7672-13T>G (n.7672-13T>G)
c.7618-13T>G (n.7618-13T>G)
c.7588-13T>G (n.7588-13T>G)
c.7543-13T>G (n.7543-13T>G)
c.7138-13T>G (n.7138-13T>G)
c.6496-13T>G (n.6496-13T>G)
c.4006-13T>G (n.4006-13T>G)
 gnomAD v4
10g.71802887C>TCA653396137CDH23c.7483-11C>T (n.7483-11C>T)
c.1416-11C>T (n.1416-11C>T)
c.1080-11C>T (n.1080-11C>T)
c.7498-11C>T (n.7498-11C>T)
c.763-11C>T (n.763-11C>T)
n.1019-11C>T
c.7678-11C>T (n.7678-11C>T)
c.7612-11C>T (n.7612-11C>T)
c.7675-11C>T (n.7675-11C>T)
c.7672-11C>T (n.7672-11C>T)
c.7618-11C>T (n.7618-11C>T)
c.7588-11C>T (n.7588-11C>T)
c.7543-11C>T (n.7543-11C>T)
c.7138-11C>T (n.7138-11C>T)
c.6496-11C>T (n.6496-11C>T)
c.4006-11C>T (n.4006-11C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71802888A=CA1918880385CDH23c.7483-10A= (n.7483-10A=)
c.1416-10A= (n.1416-10A=)
c.1080-10A= (n.1080-10A=)
c.7498-10A= (n.7498-10A=)
c.763-10A= (n.763-10A=)
n.1019-10A=
c.7678-10A= (n.7678-10A=)
c.7612-10A= (n.7612-10A=)
c.7675-10A= (n.7675-10A=)
c.7672-10A= (n.7672-10A=)
c.7618-10A= (n.7618-10A=)
c.7588-10A= (n.7588-10A=)
c.7543-10A= (n.7543-10A=)
c.7138-10A= (n.7138-10A=)
c.6496-10A= (n.6496-10A=)
c.4006-10A= (n.4006-10A=)
10g.71802888A>GCA5546368CDH23c.7483-10A>G (n.7483-10A>G)
c.1416-10A>G (n.1416-10A>G)
c.1080-10A>G (n.1080-10A>G)
c.7498-10A>G (n.7498-10A>G)
c.763-10A>G (n.763-10A>G)
n.1019-10A>G
c.7678-10A>G (n.7678-10A>G)
c.7612-10A>G (n.7612-10A>G)
c.7675-10A>G (n.7675-10A>G)
c.7672-10A>G (n.7672-10A>G)
c.7618-10A>G (n.7618-10A>G)
c.7588-10A>G (n.7588-10A>G)
c.7543-10A>G (n.7543-10A>G)
c.7138-10A>G (n.7138-10A>G)
c.6496-10A>G (n.6496-10A>G)
c.4006-10A>G (n.4006-10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802888A>TCA2574456649CDH23c.7483-10A>T (n.7483-10A>T)
c.1416-10A>T (n.1416-10A>T)
c.1080-10A>T (n.1080-10A>T)
c.7498-10A>T (n.7498-10A>T)
c.763-10A>T (n.763-10A>T)
n.1019-10A>T
c.7678-10A>T (n.7678-10A>T)
c.7612-10A>T (n.7612-10A>T)
c.7675-10A>T (n.7675-10A>T)
c.7672-10A>T (n.7672-10A>T)
c.7618-10A>T (n.7618-10A>T)
c.7588-10A>T (n.7588-10A>T)
c.7543-10A>T (n.7543-10A>T)
c.7138-10A>T (n.7138-10A>T)
c.6496-10A>T (n.6496-10A>T)
c.4006-10A>T (n.4006-10A>T)
10g.71802890C=CA1918880386CDH23c.7483-8C= (n.7483-8C=)
c.1416-8C= (n.1416-8C=)
c.1080-8C= (n.1080-8C=)
c.7498-8C= (n.7498-8C=)
c.763-8C= (n.763-8C=)
n.1019-8C=
c.7678-8C= (n.7678-8C=)
c.7612-8C= (n.7612-8C=)
c.7675-8C= (n.7675-8C=)
c.7672-8C= (n.7672-8C=)
c.7618-8C= (n.7618-8C=)
c.7588-8C= (n.7588-8C=)
c.7543-8C= (n.7543-8C=)
c.7138-8C= (n.7138-8C=)
c.6496-8C= (n.6496-8C=)
c.4006-8C= (n.4006-8C=)
10g.71802890C>GCA594706144CDH23c.7483-8C>G (n.7483-8C>G)
c.1416-8C>G (n.1416-8C>G)
c.1080-8C>G (n.1080-8C>G)
c.7498-8C>G (n.7498-8C>G)
c.763-8C>G (n.763-8C>G)
n.1019-8C>G
c.7678-8C>G (n.7678-8C>G)
c.7612-8C>G (n.7612-8C>G)
c.7675-8C>G (n.7675-8C>G)
c.7672-8C>G (n.7672-8C>G)
c.7618-8C>G (n.7618-8C>G)
c.7588-8C>G (n.7588-8C>G)
c.7543-8C>G (n.7543-8C>G)
c.7138-8C>G (n.7138-8C>G)
c.6496-8C>G (n.6496-8C>G)
c.4006-8C>G (n.4006-8C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71802890C>TCA5546369CDH23c.7483-8C>T (n.7483-8C>T)
c.1416-8C>T (n.1416-8C>T)
c.1080-8C>T (n.1080-8C>T)
c.7498-8C>T (n.7498-8C>T)
c.763-8C>T (n.763-8C>T)
n.1019-8C>T
c.7678-8C>T (n.7678-8C>T)
c.7612-8C>T (n.7612-8C>T)
c.7675-8C>T (n.7675-8C>T)
c.7672-8C>T (n.7672-8C>T)
c.7618-8C>T (n.7618-8C>T)
c.7588-8C>T (n.7588-8C>T)
c.7543-8C>T (n.7543-8C>T)
c.7138-8C>T (n.7138-8C>T)
c.6496-8C>T (n.6496-8C>T)
c.4006-8C>T (n.4006-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802891C=CA1918880387CDH23c.7483-7C= (n.7483-7C=)
c.1416-7C= (n.1416-7C=)
c.1080-7C= (n.1080-7C=)
c.7498-7C= (n.7498-7C=)
c.763-7C= (n.763-7C=)
n.1019-7C=
c.7678-7C= (n.7678-7C=)
c.7612-7C= (n.7612-7C=)
c.7675-7C= (n.7675-7C=)
c.7672-7C= (n.7672-7C=)
c.7618-7C= (n.7618-7C=)
c.7588-7C= (n.7588-7C=)
c.7543-7C= (n.7543-7C=)
c.7138-7C= (n.7138-7C=)
c.6496-7C= (n.6496-7C=)
c.4006-7C= (n.4006-7C=)
10g.71802891C>TCA594706145CDH23c.7483-7C>T (n.7483-7C>T)
c.1416-7C>T (n.1416-7C>T)
c.1080-7C>T (n.1080-7C>T)
c.7498-7C>T (n.7498-7C>T)
c.763-7C>T (n.763-7C>T)
n.1019-7C>T
c.7678-7C>T (n.7678-7C>T)
c.7612-7C>T (n.7612-7C>T)
c.7675-7C>T (n.7675-7C>T)
c.7672-7C>T (n.7672-7C>T)
c.7618-7C>T (n.7618-7C>T)
c.7588-7C>T (n.7588-7C>T)
c.7543-7C>T (n.7543-7C>T)
c.7138-7C>T (n.7138-7C>T)
c.6496-7C>T (n.6496-7C>T)
c.4006-7C>T (n.4006-7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71802892A=CA1918880388CDH23c.7483-6A= (n.7483-6A=)
c.1416-6A= (n.1416-6A=)
c.1080-6A= (n.1080-6A=)
c.7498-6A= (n.7498-6A=)
c.763-6A= (n.763-6A=)
n.1019-6A=
c.7678-6A= (n.7678-6A=)
c.7612-6A= (n.7612-6A=)
c.7675-6A= (n.7675-6A=)
c.7672-6A= (n.7672-6A=)
c.7618-6A= (n.7618-6A=)
c.7588-6A= (n.7588-6A=)
c.7543-6A= (n.7543-6A=)
c.7138-6A= (n.7138-6A=)
c.6496-6A= (n.6496-6A=)
c.4006-6A= (n.4006-6A=)
10g.71802892A>GCA209472371CDH23c.7483-6A>G (n.7483-6A>G)
c.1416-6A>G (n.1416-6A>G)
c.1080-6A>G (n.1080-6A>G)
c.7498-6A>G (n.7498-6A>G)
c.763-6A>G (n.763-6A>G)
n.1019-6A>G
c.7678-6A>G (n.7678-6A>G)
c.7612-6A>G (n.7612-6A>G)
c.7675-6A>G (n.7675-6A>G)
c.7672-6A>G (n.7672-6A>G)
c.7618-6A>G (n.7618-6A>G)
c.7588-6A>G (n.7588-6A>G)
c.7543-6A>G (n.7543-6A>G)
c.7138-6A>G (n.7138-6A>G)
c.6496-6A>G (n.6496-6A>G)
c.4006-6A>G (n.4006-6A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71802893C=CA1918880389CDH23c.7483-5C= (n.7483-5C=)
c.1416-5C= (n.1416-5C=)
c.1080-5C= (n.1080-5C=)
c.7498-5C= (n.7498-5C=)
c.763-5C= (n.763-5C=)
n.1019-5C=
c.7678-5C= (n.7678-5C=)
c.7612-5C= (n.7612-5C=)
c.7675-5C= (n.7675-5C=)
c.7672-5C= (n.7672-5C=)
c.7618-5C= (n.7618-5C=)
c.7588-5C= (n.7588-5C=)
c.7543-5C= (n.7543-5C=)
c.7138-5C= (n.7138-5C=)
c.6496-5C= (n.6496-5C=)
c.4006-5C= (n.4006-5C=)
10g.71802893C>TCA1918880390CDH23c.7483-5C>T (n.7483-5C>T)
c.1416-5C>T (n.1416-5C>T)
c.1080-5C>T (n.1080-5C>T)
c.7498-5C>T (n.7498-5C>T)
c.763-5C>T (n.763-5C>T)
n.1019-5C>T
c.7678-5C>T (n.7678-5C>T)
c.7612-5C>T (n.7612-5C>T)
c.7675-5C>T (n.7675-5C>T)
c.7672-5C>T (n.7672-5C>T)
c.7618-5C>T (n.7618-5C>T)
c.7588-5C>T (n.7588-5C>T)
c.7543-5C>T (n.7543-5C>T)
c.7138-5C>T (n.7138-5C>T)
c.6496-5C>T (n.6496-5C>T)
c.4006-5C>T (n.4006-5C>T)
 dbSNP
10g.71802895C>ACA1918880392CDH23c.7483-3C>A (n.7483-3C>A)
c.1416-3C>A (n.1416-3C>A)
c.1080-3C>A (n.1080-3C>A)
c.7498-3C>A (n.7498-3C>A)
c.763-3C>A (n.763-3C>A)
n.1019-3C>A
c.7678-3C>A (n.7678-3C>A)
c.7612-3C>A (n.7612-3C>A)
c.7675-3C>A (n.7675-3C>A)
c.7672-3C>A (n.7672-3C>A)
c.7618-3C>A (n.7618-3C>A)
c.7588-3C>A (n.7588-3C>A)
c.7543-3C>A (n.7543-3C>A)
c.7138-3C>A (n.7138-3C>A)
c.6496-3C>A (n.6496-3C>A)
c.4006-3C>A (n.4006-3C>A)
 dbSNP
10g.71802895C=CA1918880391CDH23c.7483-3C= (n.7483-3C=)
c.1416-3C= (n.1416-3C=)
c.1080-3C= (n.1080-3C=)
c.7498-3C= (n.7498-3C=)
c.763-3C= (n.763-3C=)
n.1019-3C=
c.7678-3C= (n.7678-3C=)
c.7612-3C= (n.7612-3C=)
c.7675-3C= (n.7675-3C=)
c.7672-3C= (n.7672-3C=)
c.7618-3C= (n.7618-3C=)
c.7588-3C= (n.7588-3C=)
c.7543-3C= (n.7543-3C=)
c.7138-3C= (n.7138-3C=)
c.6496-3C= (n.6496-3C=)
c.4006-3C= (n.4006-3C=)
10g.71802896A>CCA377160274CDH23c.7483-2A>C (n.7483-2A>C)
c.1416-2A>C (n.1416-2A>C)
c.1080-2A>C (n.1080-2A>C)
c.7498-2A>C (n.7498-2A>C)
c.763-2A>C (n.763-2A>C)
n.1019-2A>C
c.7678-2A>C (n.7678-2A>C)
c.7612-2A>C (n.7612-2A>C)
c.7675-2A>C (n.7675-2A>C)
c.7672-2A>C (n.7672-2A>C)
c.7618-2A>C (n.7618-2A>C)
c.7588-2A>C (n.7588-2A>C)
c.7543-2A>C (n.7543-2A>C)
c.7138-2A>C (n.7138-2A>C)
c.6496-2A>C (n.6496-2A>C)
c.4006-2A>C (n.4006-2A>C)
10g.71802896A>GCA377160276CDH23c.7483-2A>G (n.7483-2A>G)
c.1416-2A>G (n.1416-2A>G)
c.1080-2A>G (n.1080-2A>G)
c.7498-2A>G (n.7498-2A>G)
c.763-2A>G (n.763-2A>G)
n.1019-2A>G
c.7678-2A>G (n.7678-2A>G)
c.7612-2A>G (n.7612-2A>G)
c.7675-2A>G (n.7675-2A>G)
c.7672-2A>G (n.7672-2A>G)
c.7618-2A>G (n.7618-2A>G)
c.7588-2A>G (n.7588-2A>G)
c.7543-2A>G (n.7543-2A>G)
c.7138-2A>G (n.7138-2A>G)
c.6496-2A>G (n.6496-2A>G)
c.4006-2A>G (n.4006-2A>G)
10g.71802896A>TCA377160277CDH23c.7483-2A>T (n.7483-2A>T)
c.1416-2A>T (n.1416-2A>T)
c.1080-2A>T (n.1080-2A>T)
c.7498-2A>T (n.7498-2A>T)
c.763-2A>T (n.763-2A>T)
n.1019-2A>T
c.7678-2A>T (n.7678-2A>T)
c.7612-2A>T (n.7612-2A>T)
c.7675-2A>T (n.7675-2A>T)
c.7672-2A>T (n.7672-2A>T)
c.7618-2A>T (n.7618-2A>T)
c.7588-2A>T (n.7588-2A>T)
c.7543-2A>T (n.7543-2A>T)
c.7138-2A>T (n.7138-2A>T)
c.6496-2A>T (n.6496-2A>T)
c.4006-2A>T (n.4006-2A>T)
10g.71802897G>ACA377160283CDH23c.7483-1G>A (n.7483-1G>A)
c.1416-1G>A (n.1416-1G>A)
c.1080-1G>A (n.1080-1G>A)
c.7498-1G>A (n.7498-1G>A)
c.763-1G>A (n.763-1G>A)
n.1019-1G>A
c.7678-1G>A (n.7678-1G>A)
c.7612-1G>A (n.7612-1G>A)
c.7675-1G>A (n.7675-1G>A)
c.7672-1G>A (n.7672-1G>A)
c.7618-1G>A (n.7618-1G>A)
c.7588-1G>A (n.7588-1G>A)
c.7543-1G>A (n.7543-1G>A)
c.7138-1G>A (n.7138-1G>A)
c.6496-1G>A (n.6496-1G>A)
c.4006-1G>A (n.4006-1G>A)
 ClinVar gnomAD v4
10g.71802897G>CCA10576817CDH23c.7483-1G>C (n.7483-1G>C)
c.1416-1G>C (n.1416-1G>C)
c.1080-1G>C (n.1080-1G>C)
c.7498-1G>C (n.7498-1G>C)
c.763-1G>C (n.763-1G>C)
n.1019-1G>C
c.7678-1G>C (n.7678-1G>C)
c.7612-1G>C (n.7612-1G>C)
c.7675-1G>C (n.7675-1G>C)
c.7672-1G>C (n.7672-1G>C)
c.7618-1G>C (n.7618-1G>C)
c.7588-1G>C (n.7588-1G>C)
c.7543-1G>C (n.7543-1G>C)
c.7138-1G>C (n.7138-1G>C)
c.6496-1G>C (n.6496-1G>C)
c.4006-1G>C (n.4006-1G>C)
 ClinVar dbSNP
10g.71802897G=CA1918880393CDH23c.7483-1G= (n.7483-1G=)
c.1416-1G= (n.1416-1G=)
c.1080-1G= (n.1080-1G=)
c.7498-1G= (n.7498-1G=)
c.763-1G= (n.763-1G=)
n.1019-1G=
c.7678-1G= (n.7678-1G=)
c.7612-1G= (n.7612-1G=)
c.7675-1G= (n.7675-1G=)
c.7672-1G= (n.7672-1G=)
c.7618-1G= (n.7618-1G=)
c.7588-1G= (n.7588-1G=)
c.7543-1G= (n.7543-1G=)
c.7138-1G= (n.7138-1G=)
c.6496-1G= (n.6496-1G=)
c.4006-1G= (n.4006-1G=)
10g.71802897G>TCA377160280CDH23c.7483-1G>T (n.7483-1G>T)
c.1416-1G>T (n.1416-1G>T)
c.1080-1G>T (n.1080-1G>T)
c.7498-1G>T (n.7498-1G>T)
c.763-1G>T (n.763-1G>T)
n.1019-1G>T
c.7678-1G>T (n.7678-1G>T)
c.7612-1G>T (n.7612-1G>T)
c.7675-1G>T (n.7675-1G>T)
c.7672-1G>T (n.7672-1G>T)
c.7618-1G>T (n.7618-1G>T)
c.7588-1G>T (n.7588-1G>T)
c.7543-1G>T (n.7543-1G>T)
c.7138-1G>T (n.7138-1G>T)
c.6496-1G>T (n.6496-1G>T)
c.4006-1G>T (n.4006-1G>T)
10g.71802898G>ACA377160286CDH23c.7483G>A (p.Val2495Met)
c.1416G>A (n.1416G>A)
c.1080G>A (n.1080G>A)
c.7498G>A (p.Val2500Met)
c.763G>A (p.Val255Met)
n.1019G>A
c.7678G>A (p.Val2560Met)
c.7612G>A (p.Val2538Met)
c.7675G>A (p.Val2559Met)
c.7672G>A (p.Val2558Met)
c.7618G>A (p.Val2540Met)
c.7588G>A (p.Val2530Met)
c.7543G>A (p.Val2515Met)
c.7138G>A (p.Val2380Met)
c.6496G>A (p.Val2166Met)
c.4006G>A (p.Val1336Met)
10g.71802898G>CCA377160287CDH23c.7483G>C (p.Val2495Leu)
c.1416G>C (n.1416G>C)
c.1080G>C (n.1080G>C)
c.7498G>C (p.Val2500Leu)
c.763G>C (p.Val255Leu)
n.1019G>C
c.7678G>C (p.Val2560Leu)
c.7612G>C (p.Val2538Leu)
c.7675G>C (p.Val2559Leu)
c.7672G>C (p.Val2558Leu)
c.7618G>C (p.Val2540Leu)
c.7588G>C (p.Val2530Leu)
c.7543G>C (p.Val2515Leu)
c.7138G>C (p.Val2380Leu)
c.6496G>C (p.Val2166Leu)
c.4006G>C (p.Val1336Leu)
10g.71802898G>TCA377160289CDH23c.7483G>T (p.Val2495Leu)
c.1416G>T (n.1416G>T)
c.1080G>T (n.1080G>T)
c.7498G>T (p.Val2500Leu)
c.763G>T (p.Val255Leu)
n.1019G>T
c.7678G>T (p.Val2560Leu)
c.7612G>T (p.Val2538Leu)
c.7675G>T (p.Val2559Leu)
c.7672G>T (p.Val2558Leu)
c.7618G>T (p.Val2540Leu)
c.7588G>T (p.Val2530Leu)
c.7543G>T (p.Val2515Leu)
c.7138G>T (p.Val2380Leu)
c.6496G>T (p.Val2166Leu)
c.4006G>T (p.Val1336Leu)
10g.71802899T>ACA377160291CDH23c.7484T>A (p.Val2495Glu)
c.1417T>A (n.1417T>A)
c.1081T>A (n.1081T>A)
c.7499T>A (p.Val2500Glu)
c.764T>A (p.Val255Glu)
n.1020T>A
c.7679T>A (p.Val2560Glu)
c.7613T>A (p.Val2538Glu)
c.7676T>A (p.Val2559Glu)
c.7673T>A (p.Val2558Glu)
c.7619T>A (p.Val2540Glu)
c.7589T>A (p.Val2530Glu)
c.7544T>A (p.Val2515Glu)
c.7139T>A (p.Val2380Glu)
c.6497T>A (p.Val2166Glu)
c.4007T>A (p.Val1336Glu)
10g.71802899T>CCA377160293CDH23c.7484T>C (p.Val2495Ala)
c.1417T>C (n.1417T>C)
c.1081T>C (n.1081T>C)
c.7499T>C (p.Val2500Ala)
c.764T>C (p.Val255Ala)
n.1020T>C
c.7679T>C (p.Val2560Ala)
c.7613T>C (p.Val2538Ala)
c.7676T>C (p.Val2559Ala)
c.7673T>C (p.Val2558Ala)
c.7619T>C (p.Val2540Ala)
c.7589T>C (p.Val2530Ala)
c.7544T>C (p.Val2515Ala)
c.7139T>C (p.Val2380Ala)
c.6497T>C (p.Val2166Ala)
c.4007T>C (p.Val1336Ala)
10g.71802899T>GCA377160294CDH23c.7484T>G (p.Val2495Gly)
c.1417T>G (n.1417T>G)
c.1081T>G (n.1081T>G)
c.7499T>G (p.Val2500Gly)
c.764T>G (p.Val255Gly)
n.1020T>G
c.7679T>G (p.Val2560Gly)
c.7613T>G (p.Val2538Gly)
c.7676T>G (p.Val2559Gly)
c.7673T>G (p.Val2558Gly)
c.7619T>G (p.Val2540Gly)
c.7589T>G (p.Val2530Gly)
c.7544T>G (p.Val2515Gly)
c.7139T>G (p.Val2380Gly)
c.6497T>G (p.Val2166Gly)
c.4007T>G (p.Val1336Gly)
10g.71802900G>ACA470062433CDH23c.7485G>A (p.Val2495=)
c.1418G>A (n.1418G>A)
c.1082G>A (n.1082G>A)
c.7500G>A (p.Val2500=)
c.765G>A (p.Val255=)
n.1021G>A
c.7680G>A (p.Val2560=)
c.7614G>A (p.Val2538=)
c.7677G>A (p.Val2559=)
c.7674G>A (p.Val2558=)
c.7620G>A (p.Val2540=)
c.7590G>A (p.Val2530=)
c.7545G>A (p.Val2515=)
c.7140G>A (p.Val2380=)
c.6498G>A (p.Val2166=)
c.4008G>A (p.Val1336=)
10g.71802900G>CCA470062435CDH23c.7485G>C (p.Val2495=)
c.1418G>C (n.1418G>C)
c.1082G>C (n.1082G>C)
c.7500G>C (p.Val2500=)
c.765G>C (p.Val255=)
n.1021G>C
c.7680G>C (p.Val2560=)
c.7614G>C (p.Val2538=)
c.7677G>C (p.Val2559=)
c.7674G>C (p.Val2558=)
c.7620G>C (p.Val2540=)
c.7590G>C (p.Val2530=)
c.7545G>C (p.Val2515=)
c.7140G>C (p.Val2380=)
c.6498G>C (p.Val2166=)
c.4008G>C (p.Val1336=)
10g.71802900G>TCA470062434CDH23c.7485G>T (p.Val2495=)
c.1418G>T (n.1418G>T)
c.1082G>T (n.1082G>T)
c.7500G>T (p.Val2500=)
c.765G>T (p.Val255=)
n.1021G>T
c.7680G>T (p.Val2560=)
c.7614G>T (p.Val2538=)
c.7677G>T (p.Val2559=)
c.7674G>T (p.Val2558=)
c.7620G>T (p.Val2540=)
c.7590G>T (p.Val2530=)
c.7545G>T (p.Val2515=)
c.7140G>T (p.Val2380=)
c.6498G>T (p.Val2166=)
c.4008G>T (p.Val1336=)
10g.71802901G>ACA377160295CDH23c.7486G>A (p.Val2496Met)
c.1419G>A (n.1419G>A)
c.1083G>A (n.1083G>A)
c.7501G>A (p.Val2501Met)
c.766G>A (p.Val256Met)
n.1022G>A
c.7681G>A (p.Val2561Met)
c.7615G>A (p.Val2539Met)
c.7678G>A (p.Val2560Met)
c.7675G>A (p.Val2559Met)
c.7621G>A (p.Val2541Met)
c.7591G>A (p.Val2531Met)
c.7546G>A (p.Val2516Met)
c.7141G>A (p.Val2381Met)
c.6499G>A (p.Val2167Met)
c.4009G>A (p.Val1337Met)
10g.71802901G>CCA377160296CDH23c.7486G>C (p.Val2496Leu)
c.1419G>C (n.1419G>C)
c.1083G>C (n.1083G>C)
c.7501G>C (p.Val2501Leu)
c.766G>C (p.Val256Leu)
n.1022G>C
c.7681G>C (p.Val2561Leu)
c.7615G>C (p.Val2539Leu)
c.7678G>C (p.Val2560Leu)
c.7675G>C (p.Val2559Leu)
c.7621G>C (p.Val2541Leu)
c.7591G>C (p.Val2531Leu)
c.7546G>C (p.Val2516Leu)
c.7141G>C (p.Val2381Leu)
c.6499G>C (p.Val2167Leu)
c.4009G>C (p.Val1337Leu)
10g.71802901G>TCA377160297CDH23c.7486G>T (p.Val2496Leu)
c.1419G>T (n.1419G>T)
c.1083G>T (n.1083G>T)
c.7501G>T (p.Val2501Leu)
c.766G>T (p.Val256Leu)
n.1022G>T
c.7681G>T (p.Val2561Leu)
c.7615G>T (p.Val2539Leu)
c.7678G>T (p.Val2560Leu)
c.7675G>T (p.Val2559Leu)
c.7621G>T (p.Val2541Leu)
c.7591G>T (p.Val2531Leu)
c.7546G>T (p.Val2516Leu)
c.7141G>T (p.Val2381Leu)
c.6499G>T (p.Val2167Leu)
c.4009G>T (p.Val1337Leu)
10g.71802902T>ACA377160298CDH23c.7487T>A (p.Val2496Glu)
c.1420T>A (n.1420T>A)
c.1084T>A (n.1084T>A)
c.7502T>A (p.Val2501Glu)
c.767T>A (p.Val256Glu)
n.1023T>A
c.7682T>A (p.Val2561Glu)
c.7616T>A (p.Val2539Glu)
c.7679T>A (p.Val2560Glu)
c.7676T>A (p.Val2559Glu)
c.7622T>A (p.Val2541Glu)
c.7592T>A (p.Val2531Glu)
c.7547T>A (p.Val2516Glu)
c.7142T>A (p.Val2381Glu)
c.6500T>A (p.Val2167Glu)
c.4010T>A (p.Val1337Glu)
10g.71802902T>CCA377160300CDH23c.7487T>C (p.Val2496Ala)
c.1420T>C (n.1420T>C)
c.1084T>C (n.1084T>C)
c.7502T>C (p.Val2501Ala)
c.767T>C (p.Val256Ala)
n.1023T>C
c.7682T>C (p.Val2561Ala)
c.7616T>C (p.Val2539Ala)
c.7679T>C (p.Val2560Ala)
c.7676T>C (p.Val2559Ala)
c.7622T>C (p.Val2541Ala)
c.7592T>C (p.Val2531Ala)
c.7547T>C (p.Val2516Ala)
c.7142T>C (p.Val2381Ala)
c.6500T>C (p.Val2167Ala)
c.4010T>C (p.Val1337Ala)
10g.71802902T>GCA377160301CDH23c.7487T>G (p.Val2496Gly)
c.1420T>G (n.1420T>G)
c.1084T>G (n.1084T>G)
c.7502T>G (p.Val2501Gly)
c.767T>G (p.Val256Gly)
n.1023T>G
c.7682T>G (p.Val2561Gly)
c.7616T>G (p.Val2539Gly)
c.7679T>G (p.Val2560Gly)
c.7676T>G (p.Val2559Gly)
c.7622T>G (p.Val2541Gly)
c.7592T>G (p.Val2531Gly)
c.7547T>G (p.Val2516Gly)
c.7142T>G (p.Val2381Gly)
c.6500T>G (p.Val2167Gly)
c.4010T>G (p.Val1337Gly)
10g.71802903G>ACA470062436CDH23c.7488G>A (p.Val2496=)
c.1421G>A (n.1421G>A)
c.1085G>A (n.1085G>A)
c.7503G>A (p.Val2501=)
c.768G>A (p.Val256=)
n.1024G>A
c.7683G>A (p.Val2561=)
c.7617G>A (p.Val2539=)
c.7680G>A (p.Val2560=)
c.7677G>A (p.Val2559=)
c.7623G>A (p.Val2541=)
c.7593G>A (p.Val2531=)
c.7548G>A (p.Val2516=)
c.7143G>A (p.Val2381=)
c.6501G>A (p.Val2167=)
c.4011G>A (p.Val1337=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71802903G>CCA470062438CDH23c.7488G>C (p.Val2496=)
c.1421G>C (n.1421G>C)
c.1085G>C (n.1085G>C)
c.7503G>C (p.Val2501=)
c.768G>C (p.Val256=)
n.1024G>C
c.7683G>C (p.Val2561=)
c.7617G>C (p.Val2539=)
c.7680G>C (p.Val2560=)
c.7677G>C (p.Val2559=)
c.7623G>C (p.Val2541=)
c.7593G>C (p.Val2531=)
c.7548G>C (p.Val2516=)
c.7143G>C (p.Val2381=)
c.6501G>C (p.Val2167=)
c.4011G>C (p.Val1337=)
10g.71802903G=CA1918880394CDH23c.7488G= (p.Val2496=)
c.1421G= (n.1421G=)
c.1085G= (n.1085G=)
c.7503G= (p.Val2501=)
c.768G= (p.Val256=)
n.1024G=
c.7683G= (p.Val2561=)
c.7617G= (p.Val2539=)
c.7680G= (p.Val2560=)
c.7677G= (p.Val2559=)
c.7623G= (p.Val2541=)
c.7593G= (p.Val2531=)
c.7548G= (p.Val2516=)
c.7143G= (p.Val2381=)
c.6501G= (p.Val2167=)
c.4011G= (p.Val1337=)
10g.71802903G>TCA470062439CDH23c.7488G>T (p.Val2496=)
c.1421G>T (n.1421G>T)
c.1085G>T (n.1085G>T)
c.7503G>T (p.Val2501=)
c.768G>T (p.Val256=)
n.1024G>T
c.7683G>T (p.Val2561=)
c.7617G>T (p.Val2539=)
c.7680G>T (p.Val2560=)
c.7677G>T (p.Val2559=)
c.7623G>T (p.Val2541=)
c.7593G>T (p.Val2531=)
c.7548G>T (p.Val2516=)
c.7143G>T (p.Val2381=)
c.6501G>T (p.Val2167=)
c.4011G>T (p.Val1337=)
 gnomAD v4
10g.71802904A>CCA377160306CDH23c.7489A>C (p.Ile2497Leu)
c.1422A>C (n.1422A>C)
c.1086A>C (n.1086A>C)
c.7504A>C (p.Ile2502Leu)
c.769A>C (p.Ile257Leu)
n.1025A>C
c.7684A>C (p.Ile2562Leu)
c.7618A>C (p.Ile2540Leu)
c.7681A>C (p.Ile2561Leu)
c.7678A>C (p.Ile2560Leu)
c.7624A>C (p.Ile2542Leu)
c.7594A>C (p.Ile2532Leu)
c.7549A>C (p.Ile2517Leu)
c.7144A>C (p.Ile2382Leu)
c.6502A>C (p.Ile2168Leu)
c.4012A>C (p.Ile1338Leu)
10g.71802904A>GCA377160308CDH23c.7489A>G (p.Ile2497Val)
c.1422A>G (n.1422A>G)
c.1086A>G (n.1086A>G)
c.7504A>G (p.Ile2502Val)
c.769A>G (p.Ile257Val)
n.1025A>G
c.7684A>G (p.Ile2562Val)
c.7618A>G (p.Ile2540Val)
c.7681A>G (p.Ile2561Val)
c.7678A>G (p.Ile2560Val)
c.7624A>G (p.Ile2542Val)
c.7594A>G (p.Ile2532Val)
c.7549A>G (p.Ile2517Val)
c.7144A>G (p.Ile2382Val)
c.6502A>G (p.Ile2168Val)
c.4012A>G (p.Ile1338Val)
10g.71802904A>TCA377160304CDH23c.7489A>T (p.Ile2497Phe)
c.1422A>T (n.1422A>T)
c.1086A>T (n.1086A>T)
c.7504A>T (p.Ile2502Phe)
c.769A>T (p.Ile257Phe)
n.1025A>T
c.7684A>T (p.Ile2562Phe)
c.7618A>T (p.Ile2540Phe)
c.7681A>T (p.Ile2561Phe)
c.7678A>T (p.Ile2560Phe)
c.7624A>T (p.Ile2542Phe)
c.7594A>T (p.Ile2532Phe)
c.7549A>T (p.Ile2517Phe)
c.7144A>T (p.Ile2382Phe)
c.6502A>T (p.Ile2168Phe)
c.4012A>T (p.Ile1338Phe)
10g.71802905T>ACA377160309CDH23c.7490T>A (p.Ile2497Asn)
c.1423T>A (n.1423T>A)
c.1087T>A (n.1087T>A)
c.7505T>A (p.Ile2502Asn)
c.770T>A (p.Ile257Asn)
n.1026T>A
c.7685T>A (p.Ile2562Asn)
c.7619T>A (p.Ile2540Asn)
c.7682T>A (p.Ile2561Asn)
c.7679T>A (p.Ile2560Asn)
c.7625T>A (p.Ile2542Asn)
c.7595T>A (p.Ile2532Asn)
c.7550T>A (p.Ile2517Asn)
c.7145T>A (p.Ile2382Asn)
c.6503T>A (p.Ile2168Asn)
c.4013T>A (p.Ile1338Asn)
10g.71802905T>CCA377160310CDH23c.7490T>C (p.Ile2497Thr)
c.1423T>C (n.1423T>C)
c.1087T>C (n.1087T>C)
c.7505T>C (p.Ile2502Thr)
c.770T>C (p.Ile257Thr)
n.1026T>C
c.7685T>C (p.Ile2562Thr)
c.7619T>C (p.Ile2540Thr)
c.7682T>C (p.Ile2561Thr)
c.7679T>C (p.Ile2560Thr)
c.7625T>C (p.Ile2542Thr)
c.7595T>C (p.Ile2532Thr)
c.7550T>C (p.Ile2517Thr)
c.7145T>C (p.Ile2382Thr)
c.6503T>C (p.Ile2168Thr)
c.4013T>C (p.Ile1338Thr)
10g.71802905T>GCA377160311CDH23c.7490T>G (p.Ile2497Ser)
c.1423T>G (n.1423T>G)
c.1087T>G (n.1087T>G)
c.7505T>G (p.Ile2502Ser)
c.770T>G (p.Ile257Ser)
n.1026T>G
c.7685T>G (p.Ile2562Ser)
c.7619T>G (p.Ile2540Ser)
c.7682T>G (p.Ile2561Ser)
c.7679T>G (p.Ile2560Ser)
c.7625T>G (p.Ile2542Ser)
c.7595T>G (p.Ile2532Ser)
c.7550T>G (p.Ile2517Ser)
c.7145T>G (p.Ile2382Ser)
c.6503T>G (p.Ile2168Ser)
c.4013T>G (p.Ile1338Ser)
10g.71802906C>ACA470062440CDH23c.7491C>A (p.Ile2497=)
c.1424C>A (n.1424C>A)
c.1088C>A (n.1088C>A)
c.7506C>A (p.Ile2502=)
c.771C>A (p.Ile257=)
n.1027C>A
c.7686C>A (p.Ile2562=)
c.7620C>A (p.Ile2540=)
c.7683C>A (p.Ile2561=)
c.7680C>A (p.Ile2560=)
c.7626C>A (p.Ile2542=)
c.7596C>A (p.Ile2532=)
c.7551C>A (p.Ile2517=)
c.7146C>A (p.Ile2382=)
c.6504C>A (p.Ile2168=)
c.4014C>A (p.Ile1338=)
10g.71802906C>GCA377160314CDH23c.7491C>G (p.Ile2497Met)
c.1424C>G (n.1424C>G)
c.1088C>G (n.1088C>G)
c.7506C>G (p.Ile2502Met)
c.771C>G (p.Ile257Met)
n.1027C>G
c.7686C>G (p.Ile2562Met)
c.7620C>G (p.Ile2540Met)
c.7683C>G (p.Ile2561Met)
c.7680C>G (p.Ile2560Met)
c.7626C>G (p.Ile2542Met)
c.7596C>G (p.Ile2532Met)
c.7551C>G (p.Ile2517Met)
c.7146C>G (p.Ile2382Met)
c.6504C>G (p.Ile2168Met)
c.4014C>G (p.Ile1338Met)
10g.71802906C>TCA470062441CDH23c.7491C>T (p.Ile2497=)
c.1424C>T (n.1424C>T)
c.1088C>T (n.1088C>T)
c.7506C>T (p.Ile2502=)
c.771C>T (p.Ile257=)
n.1027C>T
c.7686C>T (p.Ile2562=)
c.7620C>T (p.Ile2540=)
c.7683C>T (p.Ile2561=)
c.7680C>T (p.Ile2560=)
c.7626C>T (p.Ile2542=)
c.7596C>T (p.Ile2532=)
c.7551C>T (p.Ile2517=)
c.7146C>T (p.Ile2382=)
c.6504C>T (p.Ile2168=)
c.4014C>T (p.Ile1338=)
10g.71802907C>ACA377160315CDH23c.7492C>A (p.Gln2498Lys)
c.1425C>A (n.1425C>A)
c.1089C>A (n.1089C>A)
c.7507C>A (p.Gln2503Lys)
c.772C>A (p.Gln258Lys)
n.1028C>A
c.7687C>A (p.Gln2563Lys)
c.7621C>A (p.Gln2541Lys)
c.7684C>A (p.Gln2562Lys)
c.7681C>A (p.Gln2561Lys)
c.7627C>A (p.Gln2543Lys)
c.7597C>A (p.Gln2533Lys)
c.7552C>A (p.Gln2518Lys)
c.7147C>A (p.Gln2383Lys)
c.6505C>A (p.Gln2169Lys)
c.4015C>A (p.Gln1339Lys)
10g.71802907C>GCA377160317CDH23c.7492C>G (p.Gln2498Glu)
c.1425C>G (n.1425C>G)
c.1089C>G (n.1089C>G)
c.7507C>G (p.Gln2503Glu)
c.772C>G (p.Gln258Glu)
n.1028C>G
c.7687C>G (p.Gln2563Glu)
c.7621C>G (p.Gln2541Glu)
c.7684C>G (p.Gln2562Glu)
c.7681C>G (p.Gln2561Glu)
c.7627C>G (p.Gln2543Glu)
c.7597C>G (p.Gln2533Glu)
c.7552C>G (p.Gln2518Glu)
c.7147C>G (p.Gln2383Glu)
c.6505C>G (p.Gln2169Glu)
c.4015C>G (p.Gln1339Glu)
10g.71802907C>TCA377160318CDH23c.7492C>T (p.Gln2498Ter)
c.1425C>T (n.1425C>T)
c.1089C>T (n.1089C>T)
c.7507C>T (p.Gln2503Ter)
c.772C>T (p.Gln258Ter)
n.1028C>T
c.7687C>T (p.Gln2563Ter)
c.7621C>T (p.Gln2541Ter)
c.7684C>T (p.Gln2562Ter)
c.7681C>T (p.Gln2561Ter)
c.7627C>T (p.Gln2543Ter)
c.7597C>T (p.Gln2533Ter)
c.7552C>T (p.Gln2518Ter)
c.7147C>T (p.Gln2383Ter)
c.6505C>T (p.Gln2169Ter)
c.4015C>T (p.Gln1339Ter)
10g.71802908A>CCA377160320CDH23c.7493A>C (p.Gln2498Pro)
c.1426A>C (n.1426A>C)
c.1090A>C (n.1090A>C)
c.7508A>C (p.Gln2503Pro)
c.773A>C (p.Gln258Pro)
n.1029A>C
c.7688A>C (p.Gln2563Pro)
c.7622A>C (p.Gln2541Pro)
c.7685A>C (p.Gln2562Pro)
c.7682A>C (p.Gln2561Pro)
c.7628A>C (p.Gln2543Pro)
c.7598A>C (p.Gln2533Pro)
c.7553A>C (p.Gln2518Pro)
c.7148A>C (p.Gln2383Pro)
c.6506A>C (p.Gln2169Pro)
c.4016A>C (p.Gln1339Pro)
10g.71802908A>GCA377160321CDH23c.7493A>G (p.Gln2498Arg)
c.1426A>G (n.1426A>G)
c.1090A>G (n.1090A>G)
c.7508A>G (p.Gln2503Arg)
c.773A>G (p.Gln258Arg)
n.1029A>G
c.7688A>G (p.Gln2563Arg)
c.7622A>G (p.Gln2541Arg)
c.7685A>G (p.Gln2562Arg)
c.7682A>G (p.Gln2561Arg)
c.7628A>G (p.Gln2543Arg)
c.7598A>G (p.Gln2533Arg)
c.7553A>G (p.Gln2518Arg)
c.7148A>G (p.Gln2383Arg)
c.6506A>G (p.Gln2169Arg)
c.4016A>G (p.Gln1339Arg)
10g.71802908A>TCA377160324CDH23c.7493A>T (p.Gln2498Leu)
c.1426A>T (n.1426A>T)
c.1090A>T (n.1090A>T)
c.7508A>T (p.Gln2503Leu)
c.773A>T (p.Gln258Leu)
n.1029A>T
c.7688A>T (p.Gln2563Leu)
c.7622A>T (p.Gln2541Leu)
c.7685A>T (p.Gln2562Leu)
c.7682A>T (p.Gln2561Leu)
c.7628A>T (p.Gln2543Leu)
c.7598A>T (p.Gln2533Leu)
c.7553A>T (p.Gln2518Leu)
c.7148A>T (p.Gln2383Leu)
c.6506A>T (p.Gln2169Leu)
c.4016A>T (p.Gln1339Leu)
10g.71802909A=CA1918880395CDH23c.7494A= (p.Gln2498=)
c.1427A= (n.1427A=)
c.1091A= (n.1091A=)
c.7509A= (p.Gln2503=)
c.774A= (p.Gln258=)
n.1030A=
c.7689A= (p.Gln2563=)
c.7623A= (p.Gln2541=)
c.7686A= (p.Gln2562=)
c.7683A= (p.Gln2561=)
c.7629A= (p.Gln2543=)
c.7599A= (p.Gln2533=)
c.7554A= (p.Gln2518=)
c.7149A= (p.Gln2383=)
c.6507A= (p.Gln2169=)
c.4017A= (p.Gln1339=)
10g.71802909A>CCA377160329CDH23c.7494A>C (p.Gln2498His)
c.1427A>C (n.1427A>C)
c.1091A>C (n.1091A>C)
c.7509A>C (p.Gln2503His)
c.774A>C (p.Gln258His)
n.1030A>C
c.7689A>C (p.Gln2563His)
c.7623A>C (p.Gln2541His)
c.7686A>C (p.Gln2562His)
c.7683A>C (p.Gln2561His)
c.7629A>C (p.Gln2543His)
c.7599A>C (p.Gln2533His)
c.7554A>C (p.Gln2518His)
c.7149A>C (p.Gln2383His)
c.6507A>C (p.Gln2169His)
c.4017A>C (p.Gln1339His)
10g.71802909A>GCA470062442CDH23c.7494A>G (p.Gln2498=)
c.1427A>G (n.1427A>G)
c.1091A>G (n.1091A>G)
c.7509A>G (p.Gln2503=)
c.774A>G (p.Gln258=)
n.1030A>G
c.7689A>G (p.Gln2563=)
c.7623A>G (p.Gln2541=)
c.7686A>G (p.Gln2562=)
c.7683A>G (p.Gln2561=)
c.7629A>G (p.Gln2543=)
c.7599A>G (p.Gln2533=)
c.7554A>G (p.Gln2518=)
c.7149A>G (p.Gln2383=)
c.6507A>G (p.Gln2169=)
c.4017A>G (p.Gln1339=)
10g.71802909A>TCA377160330CDH23c.7494A>T (p.Gln2498His)
c.1427A>T (n.1427A>T)
c.1091A>T (n.1091A>T)
c.7509A>T (p.Gln2503His)
c.774A>T (p.Gln258His)
n.1030A>T
c.7689A>T (p.Gln2563His)
c.7623A>T (p.Gln2541His)
c.7686A>T (p.Gln2562His)
c.7683A>T (p.Gln2561His)
c.7629A>T (p.Gln2543His)
c.7599A>T (p.Gln2533His)
c.7554A>T (p.Gln2518His)
c.7149A>T (p.Gln2383His)
c.6507A>T (p.Gln2169His)
c.4017A>T (p.Gln1339His)
 ClinVar dbSNP
10g.71802910G>ACA377160333CDH23c.7495G>A (p.Val2499Met)
c.1428G>A (n.1428G>A)
c.1092G>A (n.1092G>A)
c.7510G>A (p.Val2504Met)
c.775G>A (p.Val259Met)
n.1031G>A
c.7690G>A (p.Val2564Met)
c.7624G>A (p.Val2542Met)
c.7687G>A (p.Val2563Met)
c.7684G>A (p.Val2562Met)
c.7630G>A (p.Val2544Met)
c.7600G>A (p.Val2534Met)
c.7555G>A (p.Val2519Met)
c.7150G>A (p.Val2384Met)
c.6508G>A (p.Val2170Met)
c.4018G>A (p.Val1340Met)
 dbSNP
10g.71802910G>CCA377160334CDH23c.7495G>C (p.Val2499Leu)
c.1428G>C (n.1428G>C)
c.1092G>C (n.1092G>C)
c.7510G>C (p.Val2504Leu)
c.775G>C (p.Val259Leu)
n.1031G>C
c.7690G>C (p.Val2564Leu)
c.7624G>C (p.Val2542Leu)
c.7687G>C (p.Val2563Leu)
c.7684G>C (p.Val2562Leu)
c.7630G>C (p.Val2544Leu)
c.7600G>C (p.Val2534Leu)
c.7555G>C (p.Val2519Leu)
c.7150G>C (p.Val2384Leu)
c.6508G>C (p.Val2170Leu)
c.4018G>C (p.Val1340Leu)
10g.71802910G>TCA377160331CDH23c.7495G>T (p.Val2499Leu)
c.1428G>T (n.1428G>T)
c.1092G>T (n.1092G>T)
c.7510G>T (p.Val2504Leu)
c.775G>T (p.Val259Leu)
n.1031G>T
c.7690G>T (p.Val2564Leu)
c.7624G>T (p.Val2542Leu)
c.7687G>T (p.Val2563Leu)
c.7684G>T (p.Val2562Leu)
c.7630G>T (p.Val2544Leu)
c.7600G>T (p.Val2534Leu)
c.7555G>T (p.Val2519Leu)
c.7150G>T (p.Val2384Leu)
c.6508G>T (p.Val2170Leu)
c.4018G>T (p.Val1340Leu)
10g.71802911T>ACA377160336CDH23c.7496T>A (p.Val2499Glu)
c.1429T>A (n.1429T>A)
c.1093T>A (n.1093T>A)
c.7511T>A (p.Val2504Glu)
c.776T>A (p.Val259Glu)
n.1032T>A
c.7691T>A (p.Val2564Glu)
c.7625T>A (p.Val2542Glu)
c.7688T>A (p.Val2563Glu)
c.7685T>A (p.Val2562Glu)
c.7631T>A (p.Val2544Glu)
c.7601T>A (p.Val2534Glu)
c.7556T>A (p.Val2519Glu)
c.7151T>A (p.Val2384Glu)
c.6509T>A (p.Val2170Glu)
c.4019T>A (p.Val1340Glu)
10g.71802911T>CCA377160337CDH23c.7496T>C (p.Val2499Ala)
c.1429T>C (n.1429T>C)
c.1093T>C (n.1093T>C)
c.7511T>C (p.Val2504Ala)
c.776T>C (p.Val259Ala)
n.1032T>C
c.7691T>C (p.Val2564Ala)
c.7625T>C (p.Val2542Ala)
c.7688T>C (p.Val2563Ala)
c.7685T>C (p.Val2562Ala)
c.7631T>C (p.Val2544Ala)
c.7601T>C (p.Val2534Ala)
c.7556T>C (p.Val2519Ala)
c.7151T>C (p.Val2384Ala)
c.6509T>C (p.Val2170Ala)
c.4019T>C (p.Val1340Ala)
10g.71802911T>GCA377160338CDH23c.7496T>G (p.Val2499Gly)
c.1429T>G (n.1429T>G)
c.1093T>G (n.1093T>G)
c.7511T>G (p.Val2504Gly)
c.776T>G (p.Val259Gly)
n.1032T>G
c.7691T>G (p.Val2564Gly)
c.7625T>G (p.Val2542Gly)
c.7688T>G (p.Val2563Gly)
c.7685T>G (p.Val2562Gly)
c.7631T>G (p.Val2544Gly)
c.7601T>G (p.Val2534Gly)
c.7556T>G (p.Val2519Gly)
c.7151T>G (p.Val2384Gly)
c.6509T>G (p.Val2170Gly)
c.4019T>G (p.Val1340Gly)
10g.71802912G>ACA470062443CDH23c.7497G>A (p.Val2499=)
c.1430G>A (n.1430G>A)
c.1094G>A (n.1094G>A)
c.7512G>A (p.Val2504=)
c.777G>A (p.Val259=)
n.1033G>A
c.7692G>A (p.Val2564=)
c.7626G>A (p.Val2542=)
c.7689G>A (p.Val2563=)
c.7686G>A (p.Val2562=)
c.7632G>A (p.Val2544=)
c.7602G>A (p.Val2534=)
c.7557G>A (p.Val2519=)
c.7152G>A (p.Val2384=)
c.6510G>A (p.Val2170=)
c.4020G>A (p.Val1340=)
 dbSNP gnomAD v2 gnomAD v4
10g.71802912G>CCA470062444CDH23c.7497G>C (p.Val2499=)
c.1430G>C (n.1430G>C)
c.1094G>C (n.1094G>C)
c.7512G>C (p.Val2504=)
c.777G>C (p.Val259=)
n.1033G>C
c.7692G>C (p.Val2564=)
c.7626G>C (p.Val2542=)
c.7689G>C (p.Val2563=)
c.7686G>C (p.Val2562=)
c.7632G>C (p.Val2544=)
c.7602G>C (p.Val2534=)
c.7557G>C (p.Val2519=)
c.7152G>C (p.Val2384=)
c.6510G>C (p.Val2170=)
c.4020G>C (p.Val1340=)
10g.71802912G=CA1918880396CDH23c.7497G= (p.Val2499=)
c.1430G= (n.1430G=)
c.1094G= (n.1094G=)
c.7512G= (p.Val2504=)
c.777G= (p.Val259=)
n.1033G=
c.7692G= (p.Val2564=)
c.7626G= (p.Val2542=)
c.7689G= (p.Val2563=)
c.7686G= (p.Val2562=)
c.7632G= (p.Val2544=)
c.7602G= (p.Val2534=)
c.7557G= (p.Val2519=)
c.7152G= (p.Val2384=)
c.6510G= (p.Val2170=)
c.4020G= (p.Val1340=)
10g.71802912G>TCA470062445CDH23c.7497G>T (p.Val2499=)
c.1430G>T (n.1430G>T)
c.1094G>T (n.1094G>T)
c.7512G>T (p.Val2504=)
c.777G>T (p.Val259=)
n.1033G>T
c.7692G>T (p.Val2564=)
c.7626G>T (p.Val2542=)
c.7689G>T (p.Val2563=)
c.7686G>T (p.Val2562=)
c.7632G>T (p.Val2544=)
c.7602G>T (p.Val2534=)
c.7557G>T (p.Val2519=)
c.7152G>T (p.Val2384=)
c.6510G>T (p.Val2170=)
c.4020G>T (p.Val1340=)
10g.71802913C>ACA377160339CDH23c.7498C>A (p.Leu2500Met)
c.1431C>A (n.1431C>A)
c.1095C>A (n.1095C>A)
c.7513C>A (p.Leu2505Met)
c.778C>A (p.Leu260Met)
n.1034C>A
c.7693C>A (p.Leu2565Met)
c.7627C>A (p.Leu2543Met)
c.7690C>A (p.Leu2564Met)
c.7687C>A (p.Leu2563Met)
c.7633C>A (p.Leu2545Met)
c.7603C>A (p.Leu2535Met)
c.7558C>A (p.Leu2520Met)
c.7153C>A (p.Leu2385Met)
c.6511C>A (p.Leu2171Met)
c.4021C>A (p.Leu1341Met)
10g.71802913C=CA1918880397CDH23c.7498C= (p.Leu2500=)
c.1431C= (n.1431C=)
c.1095C= (n.1095C=)
c.7513C= (p.Leu2505=)
c.778C= (p.Leu260=)
n.1034C=
c.7693C= (p.Leu2565=)
c.7627C= (p.Leu2543=)
c.7690C= (p.Leu2564=)
c.7687C= (p.Leu2563=)
c.7633C= (p.Leu2545=)
c.7603C= (p.Leu2535=)
c.7558C= (p.Leu2520=)
c.7153C= (p.Leu2385=)
c.6511C= (p.Leu2171=)
c.4021C= (p.Leu1341=)
10g.71802913C>GCA377160340CDH23c.7498C>G (p.Leu2500Val)
c.1431C>G (n.1431C>G)
c.1095C>G (n.1095C>G)
c.7513C>G (p.Leu2505Val)
c.778C>G (p.Leu260Val)
n.1034C>G
c.7693C>G (p.Leu2565Val)
c.7627C>G (p.Leu2543Val)
c.7690C>G (p.Leu2564Val)
c.7687C>G (p.Leu2563Val)
c.7633C>G (p.Leu2545Val)
c.7603C>G (p.Leu2535Val)
c.7558C>G (p.Leu2520Val)
c.7153C>G (p.Leu2385Val)
c.6511C>G (p.Leu2171Val)
c.4021C>G (p.Leu1341Val)
10g.71802913C>TCA209472378CDH23c.7498C>T (p.Leu2500=)
c.1431C>T (n.1431C>T)
c.1095C>T (n.1095C>T)
c.7513C>T (p.Leu2505=)
c.778C>T (p.Leu260=)
n.1034C>T
c.7693C>T (p.Leu2565=)
c.7627C>T (p.Leu2543=)
c.7690C>T (p.Leu2564=)
c.7687C>T (p.Leu2563=)
c.7633C>T (p.Leu2545=)
c.7603C>T (p.Leu2535=)
c.7558C>T (p.Leu2520=)
c.7153C>T (p.Leu2385=)
c.6511C>T (p.Leu2171=)
c.4021C>T (p.Leu1341=)
 dbSNP
10g.71802914T>ACA377160342CDH23c.7499T>A (p.Leu2500Gln)
c.1432T>A (n.1432T>A)
c.1096T>A (n.1096T>A)
c.7514T>A (p.Leu2505Gln)
c.779T>A (p.Leu260Gln)
n.1035T>A
c.7694T>A (p.Leu2565Gln)
c.7628T>A (p.Leu2543Gln)
c.7691T>A (p.Leu2564Gln)
c.7688T>A (p.Leu2563Gln)
c.7634T>A (p.Leu2545Gln)
c.7604T>A (p.Leu2535Gln)
c.7559T>A (p.Leu2520Gln)
c.7154T>A (p.Leu2385Gln)
c.6512T>A (p.Leu2171Gln)
c.4022T>A (p.Leu1341Gln)
10g.71802914T>CCA377160345CDH23c.7499T>C (p.Leu2500Pro)
c.1432T>C (n.1432T>C)
c.1096T>C (n.1096T>C)
c.7514T>C (p.Leu2505Pro)
c.779T>C (p.Leu260Pro)
n.1035T>C
c.7694T>C (p.Leu2565Pro)
c.7628T>C (p.Leu2543Pro)
c.7691T>C (p.Leu2564Pro)
c.7688T>C (p.Leu2563Pro)
c.7634T>C (p.Leu2545Pro)
c.7604T>C (p.Leu2535Pro)
c.7559T>C (p.Leu2520Pro)
c.7154T>C (p.Leu2385Pro)
c.6512T>C (p.Leu2171Pro)
c.4022T>C (p.Leu1341Pro)
10g.71802914T>GCA377160343CDH23c.7499T>G (p.Leu2500Arg)
c.1432T>G (n.1432T>G)
c.1096T>G (n.1096T>G)
c.7514T>G (p.Leu2505Arg)
c.779T>G (p.Leu260Arg)
n.1035T>G
c.7694T>G (p.Leu2565Arg)
c.7628T>G (p.Leu2543Arg)
c.7691T>G (p.Leu2564Arg)
c.7688T>G (p.Leu2563Arg)
c.7634T>G (p.Leu2545Arg)
c.7604T>G (p.Leu2535Arg)
c.7559T>G (p.Leu2520Arg)
c.7154T>G (p.Leu2385Arg)
c.6512T>G (p.Leu2171Arg)
c.4022T>G (p.Leu1341Arg)
10g.71802915G>ACA5546370CDH23c.7500G>A (p.Leu2500=)
c.1433G>A (n.1433G>A)
c.1097G>A (n.1097G>A)
c.7515G>A (p.Leu2505=)
c.780G>A (p.Leu260=)
n.1036G>A
c.7695G>A (p.Leu2565=)
c.7629G>A (p.Leu2543=)
c.7692G>A (p.Leu2564=)
c.7689G>A (p.Leu2563=)
c.7635G>A (p.Leu2545=)
c.7605G>A (p.Leu2535=)
c.7560G>A (p.Leu2520=)
c.7155G>A (p.Leu2385=)
c.6513G>A (p.Leu2171=)
c.4023G>A (p.Leu1341=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802915G>CCA470062446CDH23c.7500G>C (p.Leu2500=)
c.1433G>C (n.1433G>C)
c.1097G>C (n.1097G>C)
c.7515G>C (p.Leu2505=)
c.780G>C (p.Leu260=)
n.1036G>C
c.7695G>C (p.Leu2565=)
c.7629G>C (p.Leu2543=)
c.7692G>C (p.Leu2564=)
c.7689G>C (p.Leu2563=)
c.7635G>C (p.Leu2545=)
c.7605G>C (p.Leu2535=)
c.7560G>C (p.Leu2520=)
c.7155G>C (p.Leu2385=)
c.6513G>C (p.Leu2171=)
c.4023G>C (p.Leu1341=)
10g.71802915G=CA1918880398CDH23c.7500G= (p.Leu2500=)
c.1433G= (n.1433G=)
c.1097G= (n.1097G=)
c.7515G= (p.Leu2505=)
c.780G= (p.Leu260=)
n.1036G=
c.7695G= (p.Leu2565=)
c.7629G= (p.Leu2543=)
c.7692G= (p.Leu2564=)
c.7689G= (p.Leu2563=)
c.7635G= (p.Leu2545=)
c.7605G= (p.Leu2535=)
c.7560G= (p.Leu2520=)
c.7155G= (p.Leu2385=)
c.6513G= (p.Leu2171=)
c.4023G= (p.Leu1341=)
10g.71802915G>TCA470062447CDH23c.7500G>T (p.Leu2500=)
c.1433G>T (n.1433G>T)
c.1097G>T (n.1097G>T)
c.7515G>T (p.Leu2505=)
c.780G>T (p.Leu260=)
n.1036G>T
c.7695G>T (p.Leu2565=)
c.7629G>T (p.Leu2543=)
c.7692G>T (p.Leu2564=)
c.7689G>T (p.Leu2563=)
c.7635G>T (p.Leu2545=)
c.7605G>T (p.Leu2535=)
c.7560G>T (p.Leu2520=)
c.7155G>T (p.Leu2385=)
c.6513G>T (p.Leu2171=)
c.4023G>T (p.Leu1341=)
10g.71802916G>ACA137573CDH23c.7501G>A (p.Asp2501Asn)
c.1434G>A (n.1434G>A)
c.1098G>A (n.1098G>A)
c.7516G>A (p.Asp2506Asn)
c.781G>A (p.Asp261Asn)
n.1037G>A
c.7696G>A (p.Asp2566Asn)
c.7630G>A (p.Asp2544Asn)
c.7693G>A (p.Asp2565Asn)
c.7690G>A (p.Asp2564Asn)
c.7636G>A (p.Asp2546Asn)
c.7606G>A (p.Asp2536Asn)
c.7561G>A (p.Asp2521Asn)
c.7156G>A (p.Asp2386Asn)
c.6514G>A (p.Asp2172Asn)
c.4024G>A (p.Asp1342Asn)
 ClinVar dbSNP
10g.71802916G>CCA5546371CDH23c.7501G>C (p.Asp2501His)
c.1434G>C (n.1434G>C)
c.1098G>C (n.1098G>C)
c.7516G>C (p.Asp2506His)
c.781G>C (p.Asp261His)
n.1037G>C
c.7696G>C (p.Asp2566His)
c.7630G>C (p.Asp2544His)
c.7693G>C (p.Asp2565His)
c.7690G>C (p.Asp2564His)
c.7636G>C (p.Asp2546His)
c.7606G>C (p.Asp2536His)
c.7561G>C (p.Asp2521His)
c.7156G>C (p.Asp2386His)
c.6514G>C (p.Asp2172His)
c.4024G>C (p.Asp1342His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802916G=CA1918880399CDH23c.7501G= (p.Asp2501=)
c.1434G= (n.1434G=)
c.1098G= (n.1098G=)
c.7516G= (p.Asp2506=)
c.781G= (p.Asp261=)
n.1037G=
c.7696G= (p.Asp2566=)
c.7630G= (p.Asp2544=)
c.7693G= (p.Asp2565=)
c.7690G= (p.Asp2564=)
c.7636G= (p.Asp2546=)
c.7606G= (p.Asp2536=)
c.7561G= (p.Asp2521=)
c.7156G= (p.Asp2386=)
c.6514G= (p.Asp2172=)
c.4024G= (p.Asp1342=)
10g.71802916G>TCA377160348CDH23c.7501G>T (p.Asp2501Tyr)
c.1434G>T (n.1434G>T)
c.1098G>T (n.1098G>T)
c.7516G>T (p.Asp2506Tyr)
c.781G>T (p.Asp261Tyr)
n.1037G>T
c.7696G>T (p.Asp2566Tyr)
c.7630G>T (p.Asp2544Tyr)
c.7693G>T (p.Asp2565Tyr)
c.7690G>T (p.Asp2564Tyr)
c.7636G>T (p.Asp2546Tyr)
c.7606G>T (p.Asp2536Tyr)
c.7561G>T (p.Asp2521Tyr)
c.7156G>T (p.Asp2386Tyr)
c.6514G>T (p.Asp2172Tyr)
c.4024G>T (p.Asp1342Tyr)
10g.71802917A>CCA377160352CDH23c.7502A>C (p.Asp2501Ala)
c.1435A>C (n.1435A>C)
c.1099A>C (n.1099A>C)
c.7517A>C (p.Asp2506Ala)
c.782A>C (p.Asp261Ala)
n.1038A>C
c.7697A>C (p.Asp2566Ala)
c.7631A>C (p.Asp2544Ala)
c.7694A>C (p.Asp2565Ala)
c.7691A>C (p.Asp2564Ala)
c.7637A>C (p.Asp2546Ala)
c.7607A>C (p.Asp2536Ala)
c.7562A>C (p.Asp2521Ala)
c.7157A>C (p.Asp2386Ala)
c.6515A>C (p.Asp2172Ala)
c.4025A>C (p.Asp1342Ala)
10g.71802917A>GCA377160351CDH23c.7502A>G (p.Asp2501Gly)
c.1435A>G (n.1435A>G)
c.1099A>G (n.1099A>G)
c.7517A>G (p.Asp2506Gly)
c.782A>G (p.Asp261Gly)
n.1038A>G
c.7697A>G (p.Asp2566Gly)
c.7631A>G (p.Asp2544Gly)
c.7694A>G (p.Asp2565Gly)
c.7691A>G (p.Asp2564Gly)
c.7637A>G (p.Asp2546Gly)
c.7607A>G (p.Asp2536Gly)
c.7562A>G (p.Asp2521Gly)
c.7157A>G (p.Asp2386Gly)
c.6515A>G (p.Asp2172Gly)
c.4025A>G (p.Asp1342Gly)
10g.71802917A>TCA377160349CDH23c.7502A>T (p.Asp2501Val)
c.1435A>T (n.1435A>T)
c.1099A>T (n.1099A>T)
c.7517A>T (p.Asp2506Val)
c.782A>T (p.Asp261Val)
n.1038A>T
c.7697A>T (p.Asp2566Val)
c.7631A>T (p.Asp2544Val)
c.7694A>T (p.Asp2565Val)
c.7691A>T (p.Asp2564Val)
c.7637A>T (p.Asp2546Val)
c.7607A>T (p.Asp2536Val)
c.7562A>T (p.Asp2521Val)
c.7157A>T (p.Asp2386Val)
c.6515A>T (p.Asp2172Val)
c.4025A>T (p.Asp1342Val)
10g.71802918T>ACA377160354CDH23c.7503T>A (p.Asp2501Glu)
c.1436T>A (n.1436T>A)
c.1100T>A (n.1100T>A)
c.7518T>A (p.Asp2506Glu)
c.783T>A (p.Asp261Glu)
n.1039T>A
c.7698T>A (p.Asp2566Glu)
c.7632T>A (p.Asp2544Glu)
c.7695T>A (p.Asp2565Glu)
c.7692T>A (p.Asp2564Glu)
c.7638T>A (p.Asp2546Glu)
c.7608T>A (p.Asp2536Glu)
c.7563T>A (p.Asp2521Glu)
c.7158T>A (p.Asp2386Glu)
c.6516T>A (p.Asp2172Glu)
c.4026T>A (p.Asp1342Glu)
10g.71802918T>CCA470062448CDH23c.7503T>C (p.Asp2501=)
c.1436T>C (n.1436T>C)
c.1100T>C (n.1100T>C)
c.7518T>C (p.Asp2506=)
c.783T>C (p.Asp261=)
n.1039T>C
c.7698T>C (p.Asp2566=)
c.7632T>C (p.Asp2544=)
c.7695T>C (p.Asp2565=)
c.7692T>C (p.Asp2564=)
c.7638T>C (p.Asp2546=)
c.7608T>C (p.Asp2536=)
c.7563T>C (p.Asp2521=)
c.7158T>C (p.Asp2386=)
c.6516T>C (p.Asp2172=)
c.4026T>C (p.Asp1342=)
 ClinVar dbSNP gnomAD v4
10g.71802918T>GCA377160356CDH23c.7503T>G (p.Asp2501Glu)
c.1436T>G (n.1436T>G)
c.1100T>G (n.1100T>G)
c.7518T>G (p.Asp2506Glu)
c.783T>G (p.Asp261Glu)
n.1039T>G
c.7698T>G (p.Asp2566Glu)
c.7632T>G (p.Asp2544Glu)
c.7695T>G (p.Asp2565Glu)
c.7692T>G (p.Asp2564Glu)
c.7638T>G (p.Asp2546Glu)
c.7608T>G (p.Asp2536Glu)
c.7563T>G (p.Asp2521Glu)
c.7158T>G (p.Asp2386Glu)
c.6516T>G (p.Asp2172Glu)
c.4026T>G (p.Asp1342Glu)
10g.71802918T=CA1918880400CDH23c.7503T= (p.Asp2501=)
c.1436T= (n.1436T=)
c.1100T= (n.1100T=)
c.7518T= (p.Asp2506=)
c.783T= (p.Asp261=)
n.1039T=
c.7698T= (p.Asp2566=)
c.7632T= (p.Asp2544=)
c.7695T= (p.Asp2565=)
c.7692T= (p.Asp2564=)
c.7638T= (p.Asp2546=)
c.7608T= (p.Asp2536=)
c.7563T= (p.Asp2521=)
c.7158T= (p.Asp2386=)
c.6516T= (p.Asp2172=)
c.4026T= (p.Asp1342=)
10g.71802919G>ACA5546372CDH23c.7504G>A (p.Val2502Ile)
c.1437G>A (n.1437G>A)
c.1101G>A (n.1101G>A)
c.7519G>A (p.Val2507Ile)
c.784G>A (p.Val262Ile)
n.1040G>A
c.7699G>A (p.Val2567Ile)
c.7633G>A (p.Val2545Ile)
c.7696G>A (p.Val2566Ile)
c.7693G>A (p.Val2565Ile)
c.7639G>A (p.Val2547Ile)
c.7609G>A (p.Val2537Ile)
c.7564G>A (p.Val2522Ile)
c.7159G>A (p.Val2387Ile)
c.6517G>A (p.Val2173Ile)
c.4027G>A (p.Val1343Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802919G>CCA377160359CDH23c.7504G>C (p.Val2502Leu)
c.1437G>C (n.1437G>C)
c.1101G>C (n.1101G>C)
c.7519G>C (p.Val2507Leu)
c.784G>C (p.Val262Leu)
n.1040G>C
c.7699G>C (p.Val2567Leu)
c.7633G>C (p.Val2545Leu)
c.7696G>C (p.Val2566Leu)
c.7693G>C (p.Val2565Leu)
c.7639G>C (p.Val2547Leu)
c.7609G>C (p.Val2537Leu)
c.7564G>C (p.Val2522Leu)
c.7159G>C (p.Val2387Leu)
c.6517G>C (p.Val2173Leu)
c.4027G>C (p.Val1343Leu)
10g.71802919G=CA1918880401CDH23c.7504G= (p.Val2502=)
c.1437G= (n.1437G=)
c.1101G= (n.1101G=)
c.7519G= (p.Val2507=)
c.784G= (p.Val262=)
n.1040G=
c.7699G= (p.Val2567=)
c.7633G= (p.Val2545=)
c.7696G= (p.Val2566=)
c.7693G= (p.Val2565=)
c.7639G= (p.Val2547=)
c.7609G= (p.Val2537=)
c.7564G= (p.Val2522=)
c.7159G= (p.Val2387=)
c.6517G= (p.Val2173=)
c.4027G= (p.Val1343=)
10g.71802919G>TCA377160362CDH23c.7504G>T (p.Val2502Phe)
c.1437G>T (n.1437G>T)
c.1101G>T (n.1101G>T)
c.7519G>T (p.Val2507Phe)
c.784G>T (p.Val262Phe)
n.1040G>T
c.7699G>T (p.Val2567Phe)
c.7633G>T (p.Val2545Phe)
c.7696G>T (p.Val2566Phe)
c.7693G>T (p.Val2565Phe)
c.7639G>T (p.Val2547Phe)
c.7609G>T (p.Val2537Phe)
c.7564G>T (p.Val2522Phe)
c.7159G>T (p.Val2387Phe)
c.6517G>T (p.Val2173Phe)
c.4027G>T (p.Val1343Phe)
10g.71802920T>ACA377160363CDH23c.7505T>A (p.Val2502Asp)
c.1438T>A (n.1438T>A)
c.1102T>A (n.1102T>A)
c.7520T>A (p.Val2507Asp)
c.785T>A (p.Val262Asp)
n.1041T>A
c.7700T>A (p.Val2567Asp)
c.7634T>A (p.Val2545Asp)
c.7697T>A (p.Val2566Asp)
c.7694T>A (p.Val2565Asp)
c.7640T>A (p.Val2547Asp)
c.7610T>A (p.Val2537Asp)
c.7565T>A (p.Val2522Asp)
c.7160T>A (p.Val2387Asp)
c.6518T>A (p.Val2173Asp)
c.4028T>A (p.Val1343Asp)
10g.71802920T>CCA377160364CDH23c.7505T>C (p.Val2502Ala)
c.1438T>C (n.1438T>C)
c.1102T>C (n.1102T>C)
c.7520T>C (p.Val2507Ala)
c.785T>C (p.Val262Ala)
n.1041T>C
c.7700T>C (p.Val2567Ala)
c.7634T>C (p.Val2545Ala)
c.7697T>C (p.Val2566Ala)
c.7694T>C (p.Val2565Ala)
c.7640T>C (p.Val2547Ala)
c.7610T>C (p.Val2537Ala)
c.7565T>C (p.Val2522Ala)
c.7160T>C (p.Val2387Ala)
c.6518T>C (p.Val2173Ala)
c.4028T>C (p.Val1343Ala)
10g.71802920T>GCA377160365CDH23c.7505T>G (p.Val2502Gly)
c.1438T>G (n.1438T>G)
c.1102T>G (n.1102T>G)
c.7520T>G (p.Val2507Gly)
c.785T>G (p.Val262Gly)
n.1041T>G
c.7700T>G (p.Val2567Gly)
c.7634T>G (p.Val2545Gly)
c.7697T>G (p.Val2566Gly)
c.7694T>G (p.Val2565Gly)
c.7640T>G (p.Val2547Gly)
c.7610T>G (p.Val2537Gly)
c.7565T>G (p.Val2522Gly)
c.7160T>G (p.Val2387Gly)
c.6518T>G (p.Val2173Gly)
c.4028T>G (p.Val1343Gly)
10g.71802921C>ACA470062451CDH23c.7506C>A (p.Val2502=)
c.1439C>A (n.1439C>A)
c.1103C>A (n.1103C>A)
c.7521C>A (p.Val2507=)
c.786C>A (p.Val262=)
n.1042C>A
c.7701C>A (p.Val2567=)
c.7635C>A (p.Val2545=)
c.7698C>A (p.Val2566=)
c.7695C>A (p.Val2565=)
c.7641C>A (p.Val2547=)
c.7611C>A (p.Val2537=)
c.7566C>A (p.Val2522=)
c.7161C>A (p.Val2387=)
c.6519C>A (p.Val2173=)
c.4029C>A (p.Val1343=)
10g.71802921C>GCA470062449CDH23c.7506C>G (p.Val2502=)
c.1439C>G (n.1439C>G)
c.1103C>G (n.1103C>G)
c.7521C>G (p.Val2507=)
c.786C>G (p.Val262=)
n.1042C>G
c.7701C>G (p.Val2567=)
c.7635C>G (p.Val2545=)
c.7698C>G (p.Val2566=)
c.7695C>G (p.Val2565=)
c.7641C>G (p.Val2547=)
c.7611C>G (p.Val2537=)
c.7566C>G (p.Val2522=)
c.7161C>G (p.Val2387=)
c.6519C>G (p.Val2173=)
c.4029C>G (p.Val1343=)
10g.71802921C>TCA470062450CDH23c.7506C>T (p.Val2502=)
c.1439C>T (n.1439C>T)
c.1103C>T (n.1103C>T)
c.7521C>T (p.Val2507=)
c.786C>T (p.Val262=)
n.1042C>T
c.7701C>T (p.Val2567=)
c.7635C>T (p.Val2545=)
c.7698C>T (p.Val2566=)
c.7695C>T (p.Val2565=)
c.7641C>T (p.Val2547=)
c.7611C>T (p.Val2537=)
c.7566C>T (p.Val2522=)
c.7161C>T (p.Val2387=)
c.6519C>T (p.Val2173=)
c.4029C>T (p.Val1343=)
10g.71802922A>CCA377160369CDH23c.7507A>C (p.Asn2503His)
c.1440A>C (n.1440A>C)
c.1104A>C (n.1104A>C)
c.7522A>C (p.Asn2508His)
c.787A>C (p.Asn263His)
n.1043A>C
c.7702A>C (p.Asn2568His)
c.7636A>C (p.Asn2546His)
c.7699A>C (p.Asn2567His)
c.7696A>C (p.Asn2566His)
c.7642A>C (p.Asn2548His)
c.7612A>C (p.Asn2538His)
c.7567A>C (p.Asn2523His)
c.7162A>C (p.Asn2388His)
c.6520A>C (p.Asn2174His)
c.4030A>C (p.Asn1344His)
10g.71802922A>GCA377160367CDH23c.7507A>G (p.Asn2503Asp)
c.1440A>G (n.1440A>G)
c.1104A>G (n.1104A>G)
c.7522A>G (p.Asn2508Asp)
c.787A>G (p.Asn263Asp)
n.1043A>G
c.7702A>G (p.Asn2568Asp)
c.7636A>G (p.Asn2546Asp)
c.7699A>G (p.Asn2567Asp)
c.7696A>G (p.Asn2566Asp)
c.7642A>G (p.Asn2548Asp)
c.7612A>G (p.Asn2538Asp)
c.7567A>G (p.Asn2523Asp)
c.7162A>G (p.Asn2388Asp)
c.6520A>G (p.Asn2174Asp)
c.4030A>G (p.Asn1344Asp)
 gnomAD v4
10g.71802922A>TCA377160368CDH23c.7507A>T (p.Asn2503Tyr)
c.1440A>T (n.1440A>T)
c.1104A>T (n.1104A>T)
c.7522A>T (p.Asn2508Tyr)
c.787A>T (p.Asn263Tyr)
n.1043A>T
c.7702A>T (p.Asn2568Tyr)
c.7636A>T (p.Asn2546Tyr)
c.7699A>T (p.Asn2567Tyr)
c.7696A>T (p.Asn2566Tyr)
c.7642A>T (p.Asn2548Tyr)
c.7612A>T (p.Asn2538Tyr)
c.7567A>T (p.Asn2523Tyr)
c.7162A>T (p.Asn2388Tyr)
c.6520A>T (p.Asn2174Tyr)
c.4030A>T (p.Asn1344Tyr)
10g.71802923A=CA1918880402CDH23c.7508A= (p.Asn2503=)
c.1441A= (n.1441A=)
c.1105A= (n.1105A=)
c.7523A= (p.Asn2508=)
c.788A= (p.Asn263=)
n.1044A=
c.7703A= (p.Asn2568=)
c.7637A= (p.Asn2546=)
c.7700A= (p.Asn2567=)
c.7697A= (p.Asn2566=)
c.7643A= (p.Asn2548=)
c.7613A= (p.Asn2538=)
c.7568A= (p.Asn2523=)
c.7163A= (p.Asn2388=)
c.6521A= (p.Asn2174=)
c.4031A= (p.Asn1344=)
10g.71802923A>CCA377160370CDH23c.7508A>C (p.Asn2503Thr)
c.1441A>C (n.1441A>C)
c.1105A>C (n.1105A>C)
c.7523A>C (p.Asn2508Thr)
c.788A>C (p.Asn263Thr)
n.1044A>C
c.7703A>C (p.Asn2568Thr)
c.7637A>C (p.Asn2546Thr)
c.7700A>C (p.Asn2567Thr)
c.7697A>C (p.Asn2566Thr)
c.7643A>C (p.Asn2548Thr)
c.7613A>C (p.Asn2538Thr)
c.7568A>C (p.Asn2523Thr)
c.7163A>C (p.Asn2388Thr)
c.6521A>C (p.Asn2174Thr)
c.4031A>C (p.Asn1344Thr)
10g.71802923A>GCA377160372CDH23c.7508A>G (p.Asn2503Ser)
c.1441A>G (n.1441A>G)
c.1105A>G (n.1105A>G)
c.7523A>G (p.Asn2508Ser)
c.788A>G (p.Asn263Ser)
n.1044A>G
c.7703A>G (p.Asn2568Ser)
c.7637A>G (p.Asn2546Ser)
c.7700A>G (p.Asn2567Ser)
c.7697A>G (p.Asn2566Ser)
c.7643A>G (p.Asn2548Ser)
c.7613A>G (p.Asn2538Ser)
c.7568A>G (p.Asn2523Ser)
c.7163A>G (p.Asn2388Ser)
c.6521A>G (p.Asn2174Ser)
c.4031A>G (p.Asn1344Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.71802923A>TCA377160374CDH23c.7508A>T (p.Asn2503Ile)
c.1441A>T (n.1441A>T)
c.1105A>T (n.1105A>T)
c.7523A>T (p.Asn2508Ile)
c.788A>T (p.Asn263Ile)
n.1044A>T
c.7703A>T (p.Asn2568Ile)
c.7637A>T (p.Asn2546Ile)
c.7700A>T (p.Asn2567Ile)
c.7697A>T (p.Asn2566Ile)
c.7643A>T (p.Asn2548Ile)
c.7613A>T (p.Asn2538Ile)
c.7568A>T (p.Asn2523Ile)
c.7163A>T (p.Asn2388Ile)
c.6521A>T (p.Asn2174Ile)
c.4031A>T (p.Asn1344Ile)
10g.71802924T>ACA377160377CDH23c.7509T>A (p.Asn2503Lys)
c.1442T>A (n.1442T>A)
c.1106T>A (n.1106T>A)
c.7524T>A (p.Asn2508Lys)
c.789T>A (p.Asn263Lys)
n.1045T>A
c.7704T>A (p.Asn2568Lys)
c.7638T>A (p.Asn2546Lys)
c.7701T>A (p.Asn2567Lys)
c.7698T>A (p.Asn2566Lys)
c.7644T>A (p.Asn2548Lys)
c.7614T>A (p.Asn2538Lys)
c.7569T>A (p.Asn2523Lys)
c.7164T>A (p.Asn2388Lys)
c.6522T>A (p.Asn2174Lys)
c.4032T>A (p.Asn1344Lys)
10g.71802924T>CCA470062452CDH23c.7509T>C (p.Asn2503=)
c.1442T>C (n.1442T>C)
c.1106T>C (n.1106T>C)
c.7524T>C (p.Asn2508=)
c.789T>C (p.Asn263=)
n.1045T>C
c.7704T>C (p.Asn2568=)
c.7638T>C (p.Asn2546=)
c.7701T>C (p.Asn2567=)
c.7698T>C (p.Asn2566=)
c.7644T>C (p.Asn2548=)
c.7614T>C (p.Asn2538=)
c.7569T>C (p.Asn2523=)
c.7164T>C (p.Asn2388=)
c.6522T>C (p.Asn2174=)
c.4032T>C (p.Asn1344=)
 gnomAD v4
10g.71802924T>GCA377160378CDH23c.7509T>G (p.Asn2503Lys)
c.1442T>G (n.1442T>G)
c.1106T>G (n.1106T>G)
c.7524T>G (p.Asn2508Lys)
c.789T>G (p.Asn263Lys)
n.1045T>G
c.7704T>G (p.Asn2568Lys)
c.7638T>G (p.Asn2546Lys)
c.7701T>G (p.Asn2567Lys)
c.7698T>G (p.Asn2566Lys)
c.7644T>G (p.Asn2548Lys)
c.7614T>G (p.Asn2538Lys)
c.7569T>G (p.Asn2523Lys)
c.7164T>G (p.Asn2388Lys)
c.6522T>G (p.Asn2174Lys)
c.4032T>G (p.Asn1344Lys)
10g.71802925G>ACA377160380CDH23c.7510G>A (p.Asp2504Asn)
c.1443G>A (n.1443G>A)
c.1107G>A (n.1107G>A)
c.7525G>A (p.Asp2509Asn)
c.790G>A (p.Asp264Asn)
n.1046G>A
c.7705G>A (p.Asp2569Asn)
c.7639G>A (p.Asp2547Asn)
c.7702G>A (p.Asp2568Asn)
c.7699G>A (p.Asp2567Asn)
c.7645G>A (p.Asp2549Asn)
c.7615G>A (p.Asp2539Asn)
c.7570G>A (p.Asp2524Asn)
c.7165G>A (p.Asp2389Asn)
c.6523G>A (p.Asp2175Asn)
c.4033G>A (p.Asp1345Asn)
10g.71802925G>CCA377160382CDH23c.7510G>C (p.Asp2504His)
c.1443G>C (n.1443G>C)
c.1107G>C (n.1107G>C)
c.7525G>C (p.Asp2509His)
c.790G>C (p.Asp264His)
n.1046G>C
c.7705G>C (p.Asp2569His)
c.7639G>C (p.Asp2547His)
c.7702G>C (p.Asp2568His)
c.7699G>C (p.Asp2567His)
c.7645G>C (p.Asp2549His)
c.7615G>C (p.Asp2539His)
c.7570G>C (p.Asp2524His)
c.7165G>C (p.Asp2389His)
c.6523G>C (p.Asp2175His)
c.4033G>C (p.Asp1345His)
10g.71802925G>TCA377160381CDH23c.7510G>T (p.Asp2504Tyr)
c.1443G>T (n.1443G>T)
c.1107G>T (n.1107G>T)
c.7525G>T (p.Asp2509Tyr)
c.790G>T (p.Asp264Tyr)
n.1046G>T
c.7705G>T (p.Asp2569Tyr)
c.7639G>T (p.Asp2547Tyr)
c.7702G>T (p.Asp2568Tyr)
c.7699G>T (p.Asp2567Tyr)
c.7645G>T (p.Asp2549Tyr)
c.7615G>T (p.Asp2539Tyr)
c.7570G>T (p.Asp2524Tyr)
c.7165G>T (p.Asp2389Tyr)
c.6523G>T (p.Asp2175Tyr)
c.4033G>T (p.Asp1345Tyr)
10g.71802926A>CCA377160383CDH23c.7511A>C (p.Asp2504Ala)
c.1444A>C (n.1444A>C)
c.1108A>C (n.1108A>C)
c.7526A>C (p.Asp2509Ala)
c.791A>C (p.Asp264Ala)
n.1047A>C
c.7706A>C (p.Asp2569Ala)
c.7640A>C (p.Asp2547Ala)
c.7703A>C (p.Asp2568Ala)
c.7700A>C (p.Asp2567Ala)
c.7646A>C (p.Asp2549Ala)
c.7616A>C (p.Asp2539Ala)
c.7571A>C (p.Asp2524Ala)
c.7166A>C (p.Asp2389Ala)
c.6524A>C (p.Asp2175Ala)
c.4034A>C (p.Asp1345Ala)
10g.71802926A>GCA377160384CDH23c.7511A>G (p.Asp2504Gly)
c.1444A>G (n.1444A>G)
c.1108A>G (n.1108A>G)
c.7526A>G (p.Asp2509Gly)
c.791A>G (p.Asp264Gly)
n.1047A>G
c.7706A>G (p.Asp2569Gly)
c.7640A>G (p.Asp2547Gly)
c.7703A>G (p.Asp2568Gly)
c.7700A>G (p.Asp2567Gly)
c.7646A>G (p.Asp2549Gly)
c.7616A>G (p.Asp2539Gly)
c.7571A>G (p.Asp2524Gly)
c.7166A>G (p.Asp2389Gly)
c.6524A>G (p.Asp2175Gly)
c.4034A>G (p.Asp1345Gly)
 ClinVar gnomAD v4
10g.71802926A>TCA377160386CDH23c.7511A>T (p.Asp2504Val)
c.1444A>T (n.1444A>T)
c.1108A>T (n.1108A>T)
c.7526A>T (p.Asp2509Val)
c.791A>T (p.Asp264Val)
n.1047A>T
c.7706A>T (p.Asp2569Val)
c.7640A>T (p.Asp2547Val)
c.7703A>T (p.Asp2568Val)
c.7700A>T (p.Asp2567Val)
c.7646A>T (p.Asp2549Val)
c.7616A>T (p.Asp2539Val)
c.7571A>T (p.Asp2524Val)
c.7166A>T (p.Asp2389Val)
c.6524A>T (p.Asp2175Val)
c.4034A>T (p.Asp1345Val)
10g.71802927C>ACA377160387CDH23c.7512C>A (p.Asp2504Glu)
c.1445C>A (n.1445C>A)
c.1109C>A (n.1109C>A)
c.7527C>A (p.Asp2509Glu)
c.792C>A (p.Asp264Glu)
n.1048C>A
c.7707C>A (p.Asp2569Glu)
c.7641C>A (p.Asp2547Glu)
c.7704C>A (p.Asp2568Glu)
c.7701C>A (p.Asp2567Glu)
c.7647C>A (p.Asp2549Glu)
c.7617C>A (p.Asp2539Glu)
c.7572C>A (p.Asp2524Glu)
c.7167C>A (p.Asp2389Glu)
c.6525C>A (p.Asp2175Glu)
c.4035C>A (p.Asp1345Glu)
10g.71802927C>GCA377160388CDH23c.7512C>G (p.Asp2504Glu)
c.1445C>G (n.1445C>G)
c.1109C>G (n.1109C>G)
c.7527C>G (p.Asp2509Glu)
c.792C>G (p.Asp264Glu)
n.1048C>G
c.7707C>G (p.Asp2569Glu)
c.7641C>G (p.Asp2547Glu)
c.7704C>G (p.Asp2568Glu)
c.7701C>G (p.Asp2567Glu)
c.7647C>G (p.Asp2549Glu)
c.7617C>G (p.Asp2539Glu)
c.7572C>G (p.Asp2524Glu)
c.7167C>G (p.Asp2389Glu)
c.6525C>G (p.Asp2175Glu)
c.4035C>G (p.Asp1345Glu)
10g.71802927C>TCA470062453CDH23c.7512C>T (p.Asp2504=)
c.1445C>T (n.1445C>T)
c.1109C>T (n.1109C>T)
c.7527C>T (p.Asp2509=)
c.792C>T (p.Asp264=)
n.1048C>T
c.7707C>T (p.Asp2569=)
c.7641C>T (p.Asp2547=)
c.7704C>T (p.Asp2568=)
c.7701C>T (p.Asp2567=)
c.7647C>T (p.Asp2549=)
c.7617C>T (p.Asp2539=)
c.7572C>T (p.Asp2524=)
c.7167C>T (p.Asp2389=)
c.6525C>T (p.Asp2175=)
c.4035C>T (p.Asp1345=)
 dbSNP
10g.71802928T>ACA377160391CDH23c.7513T>A (p.Cys2505Ser)
c.1446T>A (n.1446T>A)
c.1110T>A (n.1110T>A)
c.7528T>A (p.Cys2510Ser)
c.793T>A (p.Cys265Ser)
n.1049T>A
c.7708T>A (p.Cys2570Ser)
c.7642T>A (p.Cys2548Ser)
c.7705T>A (p.Cys2569Ser)
c.7702T>A (p.Cys2568Ser)
c.7648T>A (p.Cys2550Ser)
c.7618T>A (p.Cys2540Ser)
c.7573T>A (p.Cys2525Ser)
c.7168T>A (p.Cys2390Ser)
c.6526T>A (p.Cys2176Ser)
c.4036T>A (p.Cys1346Ser)
10g.71802928T>CCA377160393CDH23c.7513T>C (p.Cys2505Arg)
c.1446T>C (n.1446T>C)
c.1110T>C (n.1110T>C)
c.7528T>C (p.Cys2510Arg)
c.793T>C (p.Cys265Arg)
n.1049T>C
c.7708T>C (p.Cys2570Arg)
c.7642T>C (p.Cys2548Arg)
c.7705T>C (p.Cys2569Arg)
c.7702T>C (p.Cys2568Arg)
c.7648T>C (p.Cys2550Arg)
c.7618T>C (p.Cys2540Arg)
c.7573T>C (p.Cys2525Arg)
c.7168T>C (p.Cys2390Arg)
c.6526T>C (p.Cys2176Arg)
c.4036T>C (p.Cys1346Arg)
 ClinVar
10g.71802928T>GCA377160395CDH23c.7513T>G (p.Cys2505Gly)
c.1446T>G (n.1446T>G)
c.1110T>G (n.1110T>G)
c.7528T>G (p.Cys2510Gly)
c.793T>G (p.Cys265Gly)
n.1049T>G
c.7708T>G (p.Cys2570Gly)
c.7642T>G (p.Cys2548Gly)
c.7705T>G (p.Cys2569Gly)
c.7702T>G (p.Cys2568Gly)
c.7648T>G (p.Cys2550Gly)
c.7618T>G (p.Cys2540Gly)
c.7573T>G (p.Cys2525Gly)
c.7168T>G (p.Cys2390Gly)
c.6526T>G (p.Cys2176Gly)
c.4036T>G (p.Cys1346Gly)
 gnomAD v4
10g.71802929G>ACA377160397CDH23c.7514G>A (p.Cys2505Tyr)
c.1447G>A (n.1447G>A)
c.1111G>A (n.1111G>A)
c.7529G>A (p.Cys2510Tyr)
c.794G>A (p.Cys265Tyr)
n.1050G>A
c.7709G>A (p.Cys2570Tyr)
c.7643G>A (p.Cys2548Tyr)
c.7706G>A (p.Cys2569Tyr)
c.7703G>A (p.Cys2568Tyr)
c.7649G>A (p.Cys2550Tyr)
c.7619G>A (p.Cys2540Tyr)
c.7574G>A (p.Cys2525Tyr)
c.7169G>A (p.Cys2390Tyr)
c.6527G>A (p.Cys2176Tyr)
c.4037G>A (p.Cys1346Tyr)
 dbSNP
10g.71802929G>CCA377160399CDH23c.7514G>C (p.Cys2505Ser)
c.1447G>C (n.1447G>C)
c.1111G>C (n.1111G>C)
c.7529G>C (p.Cys2510Ser)
c.794G>C (p.Cys265Ser)
n.1050G>C
c.7709G>C (p.Cys2570Ser)
c.7643G>C (p.Cys2548Ser)
c.7706G>C (p.Cys2569Ser)
c.7703G>C (p.Cys2568Ser)
c.7649G>C (p.Cys2550Ser)
c.7619G>C (p.Cys2540Ser)
c.7574G>C (p.Cys2525Ser)
c.7169G>C (p.Cys2390Ser)
c.6527G>C (p.Cys2176Ser)
c.4037G>C (p.Cys1346Ser)
10g.71802929G>TCA377160401CDH23c.7514G>T (p.Cys2505Phe)
c.1447G>T (n.1447G>T)
c.1111G>T (n.1111G>T)
c.7529G>T (p.Cys2510Phe)
c.794G>T (p.Cys265Phe)
n.1050G>T
c.7709G>T (p.Cys2570Phe)
c.7643G>T (p.Cys2548Phe)
c.7706G>T (p.Cys2569Phe)
c.7703G>T (p.Cys2568Phe)
c.7649G>T (p.Cys2550Phe)
c.7619G>T (p.Cys2540Phe)
c.7574G>T (p.Cys2525Phe)
c.7169G>T (p.Cys2390Phe)
c.6527G>T (p.Cys2176Phe)
c.4037G>T (p.Cys1346Phe)
10g.71802930C>ACA377160402CDH23c.7515C>A (p.Cys2505Ter)
c.1448C>A (n.1448C>A)
c.1112C>A (n.1112C>A)
c.7530C>A (p.Cys2510Ter)
c.795C>A (p.Cys265Ter)
n.1051C>A
c.7710C>A (p.Cys2570Ter)
c.7644C>A (p.Cys2548Ter)
c.7707C>A (p.Cys2569Ter)
c.7704C>A (p.Cys2568Ter)
c.7650C>A (p.Cys2550Ter)
c.7620C>A (p.Cys2540Ter)
c.7575C>A (p.Cys2525Ter)
c.7170C>A (p.Cys2390Ter)
c.6528C>A (p.Cys2176Ter)
c.4038C>A (p.Cys1346Ter)
 dbSNP
10g.71802930C=CA1918880403CDH23c.7515C= (p.Cys2505=)
c.1448C= (n.1448C=)
c.1112C= (n.1112C=)
c.7530C= (p.Cys2510=)
c.795C= (p.Cys265=)
n.1051C=
c.7710C= (p.Cys2570=)
c.7644C= (p.Cys2548=)
c.7707C= (p.Cys2569=)
c.7704C= (p.Cys2568=)
c.7650C= (p.Cys2550=)
c.7620C= (p.Cys2540=)
c.7575C= (p.Cys2525=)
c.7170C= (p.Cys2390=)
c.6528C= (p.Cys2176=)
c.4038C= (p.Cys1346=)
10g.71802930C>GCA377160403CDH23c.7515C>G (p.Cys2505Trp)
c.1448C>G (n.1448C>G)
c.1112C>G (n.1112C>G)
c.7530C>G (p.Cys2510Trp)
c.795C>G (p.Cys265Trp)
n.1051C>G
c.7710C>G (p.Cys2570Trp)
c.7644C>G (p.Cys2548Trp)
c.7707C>G (p.Cys2569Trp)
c.7704C>G (p.Cys2568Trp)
c.7650C>G (p.Cys2550Trp)
c.7620C>G (p.Cys2540Trp)
c.7575C>G (p.Cys2525Trp)
c.7170C>G (p.Cys2390Trp)
c.6528C>G (p.Cys2176Trp)
c.4038C>G (p.Cys1346Trp)
10g.71802930C>TCA470062454CDH23c.7515C>T (p.Cys2505=)
c.1448C>T (n.1448C>T)
c.1112C>T (n.1112C>T)
c.7530C>T (p.Cys2510=)
c.795C>T (p.Cys265=)
n.1051C>T
c.7710C>T (p.Cys2570=)
c.7644C>T (p.Cys2548=)
c.7707C>T (p.Cys2569=)
c.7704C>T (p.Cys2568=)
c.7650C>T (p.Cys2550=)
c.7620C>T (p.Cys2540=)
c.7575C>T (p.Cys2525=)
c.7170C>T (p.Cys2390=)
c.6528C>T (p.Cys2176=)
c.4038C>T (p.Cys1346=)
 dbSNP gnomAD v2
10g.71802931C>ACA470062455CDH23c.7516C>A (p.Arg2506=)
c.1449C>A (n.1449C>A)
c.1113C>A (n.1113C>A)
c.7531C>A (p.Arg2511=)
c.796C>A (p.Arg266=)
n.1052C>A
c.7711C>A (p.Arg2571=)
c.7645C>A (p.Arg2549=)
c.7708C>A (p.Arg2570=)
c.7705C>A (p.Arg2569=)
c.7651C>A (p.Arg2551=)
c.7621C>A (p.Arg2541=)
c.7576C>A (p.Arg2526=)
c.7171C>A (p.Arg2391=)
c.6529C>A (p.Arg2177=)
c.4039C>A (p.Arg1347=)
10g.71802931C=CA1918880404CDH23c.7516C= (p.Arg2506=)
c.1449C= (n.1449C=)
c.1113C= (n.1113C=)
c.7531C= (p.Arg2511=)
c.796C= (p.Arg266=)
n.1052C=
c.7711C= (p.Arg2571=)
c.7645C= (p.Arg2549=)
c.7708C= (p.Arg2570=)
c.7705C= (p.Arg2569=)
c.7651C= (p.Arg2551=)
c.7621C= (p.Arg2541=)
c.7576C= (p.Arg2526=)
c.7171C= (p.Arg2391=)
c.6529C= (p.Arg2177=)
c.4039C= (p.Arg1347=)
10g.71802931C>GCA377160409CDH23c.7516C>G (p.Arg2506Gly)
c.1449C>G (n.1449C>G)
c.1113C>G (n.1113C>G)
c.7531C>G (p.Arg2511Gly)
c.796C>G (p.Arg266Gly)
n.1052C>G
c.7711C>G (p.Arg2571Gly)
c.7645C>G (p.Arg2549Gly)
c.7708C>G (p.Arg2570Gly)
c.7705C>G (p.Arg2569Gly)
c.7651C>G (p.Arg2551Gly)
c.7621C>G (p.Arg2541Gly)
c.7576C>G (p.Arg2526Gly)
c.7171C>G (p.Arg2391Gly)
c.6529C>G (p.Arg2177Gly)
c.4039C>G (p.Arg1347Gly)
10g.71802931C>TCA5546373CDH23c.7516C>T (p.Arg2506Trp)
c.1449C>T (n.1449C>T)
c.1113C>T (n.1113C>T)
c.7531C>T (p.Arg2511Trp)
c.796C>T (p.Arg266Trp)
n.1052C>T
c.7711C>T (p.Arg2571Trp)
c.7645C>T (p.Arg2549Trp)
c.7708C>T (p.Arg2570Trp)
c.7705C>T (p.Arg2569Trp)
c.7651C>T (p.Arg2551Trp)
c.7621C>T (p.Arg2541Trp)
c.7576C>T (p.Arg2526Trp)
c.7171C>T (p.Arg2391Trp)
c.6529C>T (p.Arg2177Trp)
c.4039C>T (p.Arg1347Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71802932G>ACA175517CDH23c.7517G>A (p.Arg2506Gln)
c.1450G>A (n.1450G>A)
c.1114G>A (n.1114G>A)
c.7532G>A (p.Arg2511Gln)
c.797G>A (p.Arg266Gln)
n.1053G>A
c.7712G>A (p.Arg2571Gln)
c.7646G>A (p.Arg2549Gln)
c.7709G>A (p.Arg2570Gln)
c.7706G>A (p.Arg2569Gln)
c.7652G>A (p.Arg2551Gln)
c.7622G>A (p.Arg2541Gln)
c.7577G>A (p.Arg2526Gln)
c.7172G>A (p.Arg2391Gln)
c.6530G>A (p.Arg2177Gln)
c.4040G>A (p.Arg1347Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802932G>CCA377160413CDH23c.7517G>C (p.Arg2506Pro)
c.1450G>C (n.1450G>C)
c.1114G>C (n.1114G>C)
c.7532G>C (p.Arg2511Pro)
c.797G>C (p.Arg266Pro)
n.1053G>C
c.7712G>C (p.Arg2571Pro)
c.7646G>C (p.Arg2549Pro)
c.7709G>C (p.Arg2570Pro)
c.7706G>C (p.Arg2569Pro)
c.7652G>C (p.Arg2551Pro)
c.7622G>C (p.Arg2541Pro)
c.7577G>C (p.Arg2526Pro)
c.7172G>C (p.Arg2391Pro)
c.6530G>C (p.Arg2177Pro)
c.4040G>C (p.Arg1347Pro)
10g.71802932G=CA1918880405CDH23c.7517G= (p.Arg2506=)
c.1450G= (n.1450G=)
c.1114G= (n.1114G=)
c.7532G= (p.Arg2511=)
c.797G= (p.Arg266=)
n.1053G=
c.7712G= (p.Arg2571=)
c.7646G= (p.Arg2549=)
c.7709G= (p.Arg2570=)
c.7706G= (p.Arg2569=)
c.7652G= (p.Arg2551=)
c.7622G= (p.Arg2541=)
c.7577G= (p.Arg2526=)
c.7172G= (p.Arg2391=)
c.6530G= (p.Arg2177=)
c.4040G= (p.Arg1347=)
10g.71802932G>TCA377160415CDH23c.7517G>T (p.Arg2506Leu)
c.1450G>T (n.1450G>T)
c.1114G>T (n.1114G>T)
c.7532G>T (p.Arg2511Leu)
c.797G>T (p.Arg266Leu)
n.1053G>T
c.7712G>T (p.Arg2571Leu)
c.7646G>T (p.Arg2549Leu)
c.7709G>T (p.Arg2570Leu)
c.7706G>T (p.Arg2569Leu)
c.7652G>T (p.Arg2551Leu)
c.7622G>T (p.Arg2541Leu)
c.7577G>T (p.Arg2526Leu)
c.7172G>T (p.Arg2391Leu)
c.6530G>T (p.Arg2177Leu)
c.4040G>T (p.Arg1347Leu)
10g.71802932_71802933delinsAACA645559621CDH23c.7517_7518delinsAA (p.Arg2506Gln)
c.1450_1451delinsAA (n.1450_1451delinsAA)
c.1114_1115delinsAA (n.1114_1115delinsAA)
c.7532_7533delinsAA (p.Arg2511Gln)
c.797_798delinsAA (p.Arg266Gln)
n.1053_1054delinsAA
c.7712_7713delinsAA (p.Arg2571Gln)
c.7646_7647delinsAA (p.Arg2549Gln)
c.7709_7710delinsAA (p.Arg2570Gln)
c.7706_7707delinsAA (p.Arg2569Gln)
c.7652_7653delinsAA (p.Arg2551Gln)
c.7622_7623delinsAA (p.Arg2541Gln)
c.7577_7578delinsAA (p.Arg2526Gln)
c.7172_7173delinsAA (p.Arg2391Gln)
c.6530_6531delinsAA (p.Arg2177Gln)
c.4040_4041delinsAA (p.Arg1347Gln)
 COSMIC
10g.71802933G>ACA470062456CDH23c.7518G>A (p.Arg2506=)
c.1451G>A (n.1451G>A)
c.1115G>A (n.1115G>A)
c.7533G>A (p.Arg2511=)
c.798G>A (p.Arg266=)
n.1054G>A
c.7713G>A (p.Arg2571=)
c.7647G>A (p.Arg2549=)
c.7710G>A (p.Arg2570=)
c.7707G>A (p.Arg2569=)
c.7653G>A (p.Arg2551=)
c.7623G>A (p.Arg2541=)
c.7578G>A (p.Arg2526=)
c.7173G>A (p.Arg2391=)
c.6531G>A (p.Arg2177=)
c.4041G>A (p.Arg1347=)
10g.71802933G>CCA470062457CDH23c.7518G>C (p.Arg2506=)
c.1451G>C (n.1451G>C)
c.1115G>C (n.1115G>C)
c.7533G>C (p.Arg2511=)
c.798G>C (p.Arg266=)
n.1054G>C
c.7713G>C (p.Arg2571=)
c.7647G>C (p.Arg2549=)
c.7710G>C (p.Arg2570=)
c.7707G>C (p.Arg2569=)
c.7653G>C (p.Arg2551=)
c.7623G>C (p.Arg2541=)
c.7578G>C (p.Arg2526=)
c.7173G>C (p.Arg2391=)
c.6531G>C (p.Arg2177=)
c.4041G>C (p.Arg1347=)
10g.71802933G>TCA470062458CDH23c.7518G>T (p.Arg2506=)
c.1451G>T (n.1451G>T)
c.1115G>T (n.1115G>T)
c.7533G>T (p.Arg2511=)
c.798G>T (p.Arg266=)
n.1054G>T
c.7713G>T (p.Arg2571=)
c.7647G>T (p.Arg2549=)
c.7710G>T (p.Arg2570=)
c.7707G>T (p.Arg2569=)
c.7653G>T (p.Arg2551=)
c.7623G>T (p.Arg2541=)
c.7578G>T (p.Arg2526=)
c.7173G>T (p.Arg2391=)
c.6531G>T (p.Arg2177=)
c.4041G>T (p.Arg1347=)
 ClinVar dbSNP
10g.71802934C>ACA377160421CDH23c.7519C>A (p.Pro2507Thr)
c.1452C>A (n.1452C>A)
c.1116C>A (n.1116C>A)
c.7534C>A (p.Pro2512Thr)
c.799C>A (p.Pro267Thr)
n.1055C>A
c.7714C>A (p.Pro2572Thr)
c.7648C>A (p.Pro2550Thr)
c.7711C>A (p.Pro2571Thr)
c.7708C>A (p.Pro2570Thr)
c.7654C>A (p.Pro2552Thr)
c.7624C>A (p.Pro2542Thr)
c.7579C>A (p.Pro2527Thr)
c.7174C>A (p.Pro2392Thr)
c.6532C>A (p.Pro2178Thr)
c.4042C>A (p.Pro1348Thr)
10g.71802934C>GCA377160419CDH23c.7519C>G (p.Pro2507Ala)
c.1452C>G (n.1452C>G)
c.1116C>G (n.1116C>G)
c.7534C>G (p.Pro2512Ala)
c.799C>G (p.Pro267Ala)
n.1055C>G
c.7714C>G (p.Pro2572Ala)
c.7648C>G (p.Pro2550Ala)
c.7711C>G (p.Pro2571Ala)
c.7708C>G (p.Pro2570Ala)
c.7654C>G (p.Pro2552Ala)
c.7624C>G (p.Pro2542Ala)
c.7579C>G (p.Pro2527Ala)
c.7174C>G (p.Pro2392Ala)
c.6532C>G (p.Pro2178Ala)
c.4042C>G (p.Pro1348Ala)
10g.71802934C>TCA377160417CDH23c.7519C>T (p.Pro2507Ser)
c.1452C>T (n.1452C>T)
c.1116C>T (n.1116C>T)
c.7534C>T (p.Pro2512Ser)
c.799C>T (p.Pro267Ser)
n.1055C>T
c.7714C>T (p.Pro2572Ser)
c.7648C>T (p.Pro2550Ser)
c.7711C>T (p.Pro2571Ser)
c.7708C>T (p.Pro2570Ser)
c.7654C>T (p.Pro2552Ser)
c.7624C>T (p.Pro2542Ser)
c.7579C>T (p.Pro2527Ser)
c.7174C>T (p.Pro2392Ser)
c.6532C>T (p.Pro2178Ser)
c.4042C>T (p.Pro1348Ser)
 dbSNP COSMIC
10g.71802935C>ACA377160422CDH23c.7520C>A (p.Pro2507Gln)
c.1453C>A (n.1453C>A)
c.1117C>A (n.1117C>A)
c.7535C>A (p.Pro2512Gln)
c.800C>A (p.Pro267Gln)
n.1056C>A
c.7715C>A (p.Pro2572Gln)
c.7649C>A (p.Pro2550Gln)
c.7712C>A (p.Pro2571Gln)
c.7709C>A (p.Pro2570Gln)
c.7655C>A (p.Pro2552Gln)
c.7625C>A (p.Pro2542Gln)
c.7580C>A (p.Pro2527Gln)
c.7175C>A (p.Pro2392Gln)
c.6533C>A (p.Pro2178Gln)
c.4043C>A (p.Pro1348Gln)
 gnomAD v4
10g.71802935C>GCA377160424CDH23c.7520C>G (p.Pro2507Arg)
c.1453C>G (n.1453C>G)
c.1117C>G (n.1117C>G)
c.7535C>G (p.Pro2512Arg)
c.800C>G (p.Pro267Arg)
n.1056C>G
c.7715C>G (p.Pro2572Arg)
c.7649C>G (p.Pro2550Arg)
c.7712C>G (p.Pro2571Arg)
c.7709C>G (p.Pro2570Arg)
c.7655C>G (p.Pro2552Arg)
c.7625C>G (p.Pro2542Arg)
c.7580C>G (p.Pro2527Arg)
c.7175C>G (p.Pro2392Arg)
c.6533C>G (p.Pro2178Arg)
c.4043C>G (p.Pro1348Arg)
10g.71802935C>TCA377160427CDH23c.7520C>T (p.Pro2507Leu)
c.1453C>T (n.1453C>T)
c.1117C>T (n.1117C>T)
c.7535C>T (p.Pro2512Leu)
c.800C>T (p.Pro267Leu)
n.1056C>T
c.7715C>T (p.Pro2572Leu)
c.7649C>T (p.Pro2550Leu)
c.7712C>T (p.Pro2571Leu)
c.7709C>T (p.Pro2570Leu)
c.7655C>T (p.Pro2552Leu)
c.7625C>T (p.Pro2542Leu)
c.7580C>T (p.Pro2527Leu)
c.7175C>T (p.Pro2392Leu)
c.6533C>T (p.Pro2178Leu)
c.4043C>T (p.Pro1348Leu)
10g.71802936A>CCA470062459CDH23c.7521A>C (p.Pro2507=)
c.1454A>C (n.1454A>C)
c.1118A>C (n.1118A>C)
c.7536A>C (p.Pro2512=)
c.801A>C (p.Pro267=)
n.1057A>C
c.7716A>C (p.Pro2572=)
c.7650A>C (p.Pro2550=)
c.7713A>C (p.Pro2571=)
c.7710A>C (p.Pro2570=)
c.7656A>C (p.Pro2552=)
c.7626A>C (p.Pro2542=)
c.7581A>C (p.Pro2527=)
c.7176A>C (p.Pro2392=)
c.6534A>C (p.Pro2178=)
c.4044A>C (p.Pro1348=)
 dbSNP
10g.71802936A>GCA470062460CDH23c.7521A>G (p.Pro2507=)
c.1454A>G (n.1454A>G)
c.1118A>G (n.1118A>G)
c.7536A>G (p.Pro2512=)
c.801A>G (p.Pro267=)
n.1057A>G
c.7716A>G (p.Pro2572=)
c.7650A>G (p.Pro2550=)
c.7713A>G (p.Pro2571=)
c.7710A>G (p.Pro2570=)
c.7656A>G (p.Pro2552=)
c.7626A>G (p.Pro2542=)
c.7581A>G (p.Pro2527=)
c.7176A>G (p.Pro2392=)
c.6534A>G (p.Pro2178=)
c.4044A>G (p.Pro1348=)
10g.71802936A>TCA470062461CDH23c.7521A>T (p.Pro2507=)
c.1454A>T (n.1454A>T)
c.1118A>T (n.1118A>T)
c.7536A>T (p.Pro2512=)
c.801A>T (p.Pro267=)
n.1057A>T
c.7716A>T (p.Pro2572=)
c.7650A>T (p.Pro2550=)
c.7713A>T (p.Pro2571=)
c.7710A>T (p.Pro2570=)
c.7656A>T (p.Pro2552=)
c.7626A>T (p.Pro2542=)
c.7581A>T (p.Pro2527=)
c.7176A>T (p.Pro2392=)
c.6534A>T (p.Pro2178=)
c.4044A>T (p.Pro1348=)
10g.71802937C>ACA377160428CDH23c.7522C>A (p.Gln2508Lys)
c.1455C>A (n.1455C>A)
c.1119C>A (n.1119C>A)
c.7537C>A (p.Gln2513Lys)
c.802C>A (p.Gln268Lys)
n.1058C>A
c.7717C>A (p.Gln2573Lys)
c.7651C>A (p.Gln2551Lys)
c.7714C>A (p.Gln2572Lys)
c.7711C>A (p.Gln2571Lys)
c.7657C>A (p.Gln2553Lys)
c.7627C>A (p.Gln2543Lys)
c.7582C>A (p.Gln2528Lys)
c.7177C>A (p.Gln2393Lys)
c.6535C>A (p.Gln2179Lys)
c.4045C>A (p.Gln1349Lys)
10g.71802937C>GCA377160430CDH23c.7522C>G (p.Gln2508Glu)
c.1455C>G (n.1455C>G)
c.1119C>G (n.1119C>G)
c.7537C>G (p.Gln2513Glu)
c.802C>G (p.Gln268Glu)
n.1058C>G
c.7717C>G (p.Gln2573Glu)
c.7651C>G (p.Gln2551Glu)
c.7714C>G (p.Gln2572Glu)
c.7711C>G (p.Gln2571Glu)
c.7657C>G (p.Gln2553Glu)
c.7627C>G (p.Gln2543Glu)
c.7582C>G (p.Gln2528Glu)
c.7177C>G (p.Gln2393Glu)
c.6535C>G (p.Gln2179Glu)
c.4045C>G (p.Gln1349Glu)
10g.71802937C>TCA377160431CDH23c.7522C>T (p.Gln2508Ter)
c.1455C>T (n.1455C>T)
c.1119C>T (n.1119C>T)
c.7537C>T (p.Gln2513Ter)
c.802C>T (p.Gln268Ter)
n.1058C>T
c.7717C>T (p.Gln2573Ter)
c.7651C>T (p.Gln2551Ter)
c.7714C>T (p.Gln2572Ter)
c.7711C>T (p.Gln2571Ter)
c.7657C>T (p.Gln2553Ter)
c.7627C>T (p.Gln2543Ter)
c.7582C>T (p.Gln2528Ter)
c.7177C>T (p.Gln2393Ter)
c.6535C>T (p.Gln2179Ter)
c.4045C>T (p.Gln1349Ter)
10g.71802938delCA2609580304CDH23c.7523del (p.Gln2508ArgfsTer24)
c.1456del (n.1456del)
c.1120del (n.1120del)
c.7538del (p.Gln2513ArgfsTer24)
c.803del (p.Gln268ArgfsTer24)
n.1059del
c.7718del (p.Gln2573ArgfsTer24)
c.7652del (p.Gln2551ArgfsTer24)
c.7715del (p.Gln2572ArgfsTer24)
c.7712del (p.Gln2571ArgfsTer24)
c.7658del (p.Gln2553ArgfsTer24)
c.7628del (p.Gln2543ArgfsTer24)
c.7583del (p.Gln2528ArgfsTer24)
c.7178del (p.Gln2393ArgfsTer24)
c.6536del (p.Gln2179ArgfsTer24)
c.4046del (p.Gln1349ArgfsTer24)
 gnomAD v4
10g.71802938A>CCA377160433CDH23c.7523A>C (p.Gln2508Pro)
c.1456A>C (n.1456A>C)
c.1120A>C (n.1120A>C)
c.7538A>C (p.Gln2513Pro)
c.803A>C (p.Gln268Pro)
n.1059A>C
c.7718A>C (p.Gln2573Pro)
c.7652A>C (p.Gln2551Pro)
c.7715A>C (p.Gln2572Pro)
c.7712A>C (p.Gln2571Pro)
c.7658A>C (p.Gln2553Pro)
c.7628A>C (p.Gln2543Pro)
c.7583A>C (p.Gln2528Pro)
c.7178A>C (p.Gln2393Pro)
c.6536A>C (p.Gln2179Pro)
c.4046A>C (p.Gln1349Pro)
10g.71802938A>GCA377160437CDH23c.7523A>G (p.Gln2508Arg)
c.1456A>G (n.1456A>G)
c.1120A>G (n.1120A>G)
c.7538A>G (p.Gln2513Arg)
c.803A>G (p.Gln268Arg)
n.1059A>G
c.7718A>G (p.Gln2573Arg)
c.7652A>G (p.Gln2551Arg)
c.7715A>G (p.Gln2572Arg)
c.7712A>G (p.Gln2571Arg)
c.7658A>G (p.Gln2553Arg)
c.7628A>G (p.Gln2543Arg)
c.7583A>G (p.Gln2528Arg)
c.7178A>G (p.Gln2393Arg)
c.6536A>G (p.Gln2179Arg)
c.4046A>G (p.Gln1349Arg)
10g.71802938A>TCA377160435CDH23c.7523A>T (p.Gln2508Leu)
c.1456A>T (n.1456A>T)
c.1120A>T (n.1120A>T)
c.7538A>T (p.Gln2513Leu)
c.803A>T (p.Gln268Leu)
n.1059A>T
c.7718A>T (p.Gln2573Leu)
c.7652A>T (p.Gln2551Leu)
c.7715A>T (p.Gln2572Leu)
c.7712A>T (p.Gln2571Leu)
c.7658A>T (p.Gln2553Leu)
c.7628A>T (p.Gln2543Leu)
c.7583A>T (p.Gln2528Leu)
c.7178A>T (p.Gln2393Leu)
c.6536A>T (p.Gln2179Leu)
c.4046A>T (p.Gln1349Leu)
10g.71802939G>ACA470062462CDH23c.7524G>A (p.Gln2508=)
c.1457G>A (n.1457G>A)
c.1121G>A (n.1121G>A)
c.7539G>A (p.Gln2513=)
c.804G>A (p.Gln268=)
n.1060G>A
c.7719G>A (p.Gln2573=)
c.7653G>A (p.Gln2551=)
c.7716G>A (p.Gln2572=)
c.7713G>A (p.Gln2571=)
c.7659G>A (p.Gln2553=)
c.7629G>A (p.Gln2543=)
c.7584G>A (p.Gln2528=)
c.7179G>A (p.Gln2393=)
c.6537G>A (p.Gln2179=)
c.4047G>A (p.Gln1349=)
10g.71802939G>CCA377160439CDH23c.7524G>C (p.Gln2508His)
c.1457G>C (n.1457G>C)
c.1121G>C (n.1121G>C)
c.7539G>C (p.Gln2513His)
c.804G>C (p.Gln268His)
n.1060G>C
c.7719G>C (p.Gln2573His)
c.7653G>C (p.Gln2551His)
c.7716G>C (p.Gln2572His)
c.7713G>C (p.Gln2571His)
c.7659G>C (p.Gln2553His)
c.7629G>C (p.Gln2543His)
c.7584G>C (p.Gln2528His)
c.7179G>C (p.Gln2393His)
c.6537G>C (p.Gln2179His)
c.4047G>C (p.Gln1349His)
10g.71802939G>TCA377160441CDH23c.7524G>T (p.Gln2508His)
c.1457G>T (n.1457G>T)
c.1121G>T (n.1121G>T)
c.7539G>T (p.Gln2513His)
c.804G>T (p.Gln268His)
n.1060G>T
c.7719G>T (p.Gln2573His)
c.7653G>T (p.Gln2551His)
c.7716G>T (p.Gln2572His)
c.7713G>T (p.Gln2571His)
c.7659G>T (p.Gln2553His)
c.7629G>T (p.Gln2543His)
c.7584G>T (p.Gln2528His)
c.7179G>T (p.Gln2393His)
c.6537G>T (p.Gln2179His)
c.4047G>T (p.Gln1349His)
10g.71802940T>ACA377160443CDH23c.7525T>A (p.Phe2509Ile)
c.1458T>A (n.1458T>A)
c.1122T>A (n.1122T>A)
c.7540T>A (p.Phe2514Ile)
c.805T>A (p.Phe269Ile)
n.1061T>A
c.7720T>A (p.Phe2574Ile)
c.7654T>A (p.Phe2552Ile)
c.7717T>A (p.Phe2573Ile)
c.7714T>A (p.Phe2572Ile)
c.7660T>A (p.Phe2554Ile)
c.7630T>A (p.Phe2544Ile)
c.7585T>A (p.Phe2529Ile)
c.7180T>A (p.Phe2394Ile)
c.6538T>A (p.Phe2180Ile)
c.4048T>A (p.Phe1350Ile)
10g.71802940T>CCA377160448CDH23c.7525T>C (p.Phe2509Leu)
c.1458T>C (n.1458T>C)
c.1122T>C (n.1122T>C)
c.7540T>C (p.Phe2514Leu)
c.805T>C (p.Phe269Leu)
n.1061T>C
c.7720T>C (p.Phe2574Leu)
c.7654T>C (p.Phe2552Leu)
c.7717T>C (p.Phe2573Leu)
c.7714T>C (p.Phe2572Leu)
c.7660T>C (p.Phe2554Leu)
c.7630T>C (p.Phe2544Leu)
c.7585T>C (p.Phe2529Leu)
c.7180T>C (p.Phe2394Leu)
c.6538T>C (p.Phe2180Leu)
c.4048T>C (p.Phe1350Leu)
10g.71802940T>GCA377160450CDH23c.7525T>G (p.Phe2509Val)
c.1458T>G (n.1458T>G)
c.1122T>G (n.1122T>G)
c.7540T>G (p.Phe2514Val)
c.805T>G (p.Phe269Val)
n.1061T>G
c.7720T>G (p.Phe2574Val)
c.7654T>G (p.Phe2552Val)
c.7717T>G (p.Phe2573Val)
c.7714T>G (p.Phe2572Val)
c.7660T>G (p.Phe2554Val)
c.7630T>G (p.Phe2544Val)
c.7585T>G (p.Phe2529Val)
c.7180T>G (p.Phe2394Val)
c.6538T>G (p.Phe2180Val)
c.4048T>G (p.Phe1350Val)
10g.71802941T>ACA377160453CDH23c.7526T>A (p.Phe2509Tyr)
c.1459T>A (n.1459T>A)
c.1123T>A (n.1123T>A)
c.7541T>A (p.Phe2514Tyr)
c.806T>A (p.Phe269Tyr)
n.1062T>A
c.7721T>A (p.Phe2574Tyr)
c.7655T>A (p.Phe2552Tyr)
c.7718T>A (p.Phe2573Tyr)
c.7715T>A (p.Phe2572Tyr)
c.7661T>A (p.Phe2554Tyr)
c.7631T>A (p.Phe2544Tyr)
c.7586T>A (p.Phe2529Tyr)
c.7181T>A (p.Phe2394Tyr)
c.6539T>A (p.Phe2180Tyr)
c.4049T>A (p.Phe1350Tyr)
10g.71802941T>CCA377160454CDH23c.7526T>C (p.Phe2509Ser)
c.1459T>C (n.1459T>C)
c.1123T>C (n.1123T>C)
c.7541T>C (p.Phe2514Ser)
c.806T>C (p.Phe269Ser)
n.1062T>C
c.7721T>C (p.Phe2574Ser)
c.7655T>C (p.Phe2552Ser)
c.7718T>C (p.Phe2573Ser)
c.7715T>C (p.Phe2572Ser)
c.7661T>C (p.Phe2554Ser)
c.7631T>C (p.Phe2544Ser)
c.7586T>C (p.Phe2529Ser)
c.7181T>C (p.Phe2394Ser)
c.6539T>C (p.Phe2180Ser)
c.4049T>C (p.Phe1350Ser)
10g.71802941T>GCA377160459CDH23c.7526T>G (p.Phe2509Cys)
c.1459T>G (n.1459T>G)
c.1123T>G (n.1123T>G)
c.7541T>G (p.Phe2514Cys)
c.806T>G (p.Phe269Cys)
n.1062T>G
c.7721T>G (p.Phe2574Cys)
c.7655T>G (p.Phe2552Cys)
c.7718T>G (p.Phe2573Cys)
c.7715T>G (p.Phe2572Cys)
c.7661T>G (p.Phe2554Cys)
c.7631T>G (p.Phe2544Cys)
c.7586T>G (p.Phe2529Cys)
c.7181T>G (p.Phe2394Cys)
c.6539T>G (p.Phe2180Cys)
c.4049T>G (p.Phe1350Cys)
10g.71802942C>ACA377160461CDH23c.7527C>A (p.Phe2509Leu)
c.1460C>A (n.1460C>A)
c.1124C>A (n.1124C>A)
c.7542C>A (p.Phe2514Leu)
c.807C>A (p.Phe269Leu)
n.1063C>A
c.7722C>A (p.Phe2574Leu)
c.7656C>A (p.Phe2552Leu)
c.7719C>A (p.Phe2573Leu)
c.7716C>A (p.Phe2572Leu)
c.7662C>A (p.Phe2554Leu)
c.7632C>A (p.Phe2544Leu)
c.7587C>A (p.Phe2529Leu)
c.7182C>A (p.Phe2394Leu)
c.6540C>A (p.Phe2180Leu)
c.4050C>A (p.Phe1350Leu)
 gnomAD v4
10g.71802942C>GCA377160463CDH23c.7527C>G (p.Phe2509Leu)
c.1460C>G (n.1460C>G)
c.1124C>G (n.1124C>G)
c.7542C>G (p.Phe2514Leu)
c.807C>G (p.Phe269Leu)
n.1063C>G
c.7722C>G (p.Phe2574Leu)
c.7656C>G (p.Phe2552Leu)
c.7719C>G (p.Phe2573Leu)
c.7716C>G (p.Phe2572Leu)
c.7662C>G (p.Phe2554Leu)
c.7632C>G (p.Phe2544Leu)
c.7587C>G (p.Phe2529Leu)
c.7182C>G (p.Phe2394Leu)
c.6540C>G (p.Phe2180Leu)
c.4050C>G (p.Phe1350Leu)
10g.71802942C>TCA470062463CDH23c.7527C>T (p.Phe2509=)
c.1460C>T (n.1460C>T)
c.1124C>T (n.1124C>T)
c.7542C>T (p.Phe2514=)
c.807C>T (p.Phe269=)
n.1063C>T
c.7722C>T (p.Phe2574=)
c.7656C>T (p.Phe2552=)
c.7719C>T (p.Phe2573=)
c.7716C>T (p.Phe2572=)
c.7662C>T (p.Phe2554=)
c.7632C>T (p.Phe2544=)
c.7587C>T (p.Phe2529=)
c.7182C>T (p.Phe2394=)
c.6540C>T (p.Phe2180=)
c.4050C>T (p.Phe1350=)
10g.71802943T>ACA377160469CDH23c.7528T>A (p.Ser2510Thr)
c.1461T>A (n.1461T>A)
c.1125T>A (n.1125T>A)
c.7543T>A (p.Ser2515Thr)
c.808T>A (p.Ser270Thr)
n.1064T>A
c.7723T>A (p.Ser2575Thr)
c.7657T>A (p.Ser2553Thr)
c.7720T>A (p.Ser2574Thr)
c.7717T>A (p.Ser2573Thr)
c.7663T>A (p.Ser2555Thr)
c.7633T>A (p.Ser2545Thr)
c.7588T>A (p.Ser2530Thr)
c.7183T>A (p.Ser2395Thr)
c.6541T>A (p.Ser2181Thr)
c.4051T>A (p.Ser1351Thr)
10g.71802943T>CCA377160468CDH23c.7528T>C (p.Ser2510Pro)
c.1461T>C (n.1461T>C)
c.1125T>C (n.1125T>C)
c.7543T>C (p.Ser2515Pro)
c.808T>C (p.Ser270Pro)
n.1064T>C
c.7723T>C (p.Ser2575Pro)
c.7657T>C (p.Ser2553Pro)
c.7720T>C (p.Ser2574Pro)
c.7717T>C (p.Ser2573Pro)
c.7663T>C (p.Ser2555Pro)
c.7633T>C (p.Ser2545Pro)
c.7588T>C (p.Ser2530Pro)
c.7183T>C (p.Ser2395Pro)
c.6541T>C (p.Ser2181Pro)
c.4051T>C (p.Ser1351Pro)
10g.71802943T>GCA377160467CDH23c.7528T>G (p.Ser2510Ala)
c.1461T>G (n.1461T>G)
c.1125T>G (n.1125T>G)
c.7543T>G (p.Ser2515Ala)
c.808T>G (p.Ser270Ala)
n.1064T>G
c.7723T>G (p.Ser2575Ala)
c.7657T>G (p.Ser2553Ala)
c.7720T>G (p.Ser2574Ala)
c.7717T>G (p.Ser2573Ala)
c.7663T>G (p.Ser2555Ala)
c.7633T>G (p.Ser2545Ala)
c.7588T>G (p.Ser2530Ala)
c.7183T>G (p.Ser2395Ala)
c.6541T>G (p.Ser2181Ala)
c.4051T>G (p.Ser1351Ala)
10g.71802944C>ACA377160471CDH23c.7529C>A (p.Ser2510Tyr)
c.1462C>A (n.1462C>A)
c.1126C>A (n.1126C>A)
c.7544C>A (p.Ser2515Tyr)
c.809C>A (p.Ser270Tyr)
n.1065C>A
c.7724C>A (p.Ser2575Tyr)
c.7658C>A (p.Ser2553Tyr)
c.7721C>A (p.Ser2574Tyr)
c.7718C>A (p.Ser2573Tyr)
c.7664C>A (p.Ser2555Tyr)
c.7634C>A (p.Ser2545Tyr)
c.7589C>A (p.Ser2530Tyr)
c.7184C>A (p.Ser2395Tyr)
c.6542C>A (p.Ser2181Tyr)
c.4052C>A (p.Ser1351Tyr)
 gnomAD v4
10g.71802944C>GCA377160475CDH23c.7529C>G (p.Ser2510Cys)
c.1462C>G (n.1462C>G)
c.1126C>G (n.1126C>G)
c.7544C>G (p.Ser2515Cys)
c.809C>G (p.Ser270Cys)
n.1065C>G
c.7724C>G (p.Ser2575Cys)
c.7658C>G (p.Ser2553Cys)
c.7721C>G (p.Ser2574Cys)
c.7718C>G (p.Ser2573Cys)
c.7664C>G (p.Ser2555Cys)
c.7634C>G (p.Ser2545Cys)
c.7589C>G (p.Ser2530Cys)
c.7184C>G (p.Ser2395Cys)
c.6542C>G (p.Ser2181Cys)
c.4052C>G (p.Ser1351Cys)
10g.71802944C>TCA377160474CDH23c.7529C>T (p.Ser2510Phe)
c.1462C>T (n.1462C>T)
c.1126C>T (n.1126C>T)
c.7544C>T (p.Ser2515Phe)
c.809C>T (p.Ser270Phe)
n.1065C>T
c.7724C>T (p.Ser2575Phe)
c.7658C>T (p.Ser2553Phe)
c.7721C>T (p.Ser2574Phe)
c.7718C>T (p.Ser2573Phe)
c.7664C>T (p.Ser2555Phe)
c.7634C>T (p.Ser2545Phe)
c.7589C>T (p.Ser2530Phe)
c.7184C>T (p.Ser2395Phe)
c.6542C>T (p.Ser2181Phe)
c.4052C>T (p.Ser1351Phe)
10g.71802945C>ACA470062464CDH23c.7530C>A (p.Ser2510=)
c.1463C>A (n.1463C>A)
c.1127C>A (n.1127C>A)
c.7545C>A (p.Ser2515=)
c.810C>A (p.Ser270=)
n.1066C>A
c.7725C>A (p.Ser2575=)
c.7659C>A (p.Ser2553=)
c.7722C>A (p.Ser2574=)
c.7719C>A (p.Ser2573=)
c.7665C>A (p.Ser2555=)
c.7635C>A (p.Ser2545=)
c.7590C>A (p.Ser2530=)
c.7185C>A (p.Ser2395=)
c.6543C>A (p.Ser2181=)
c.4053C>A (p.Ser1351=)
10g.71802945C>GCA470062465CDH23c.7530C>G (p.Ser2510=)
c.1463C>G (n.1463C>G)
c.1127C>G (n.1127C>G)
c.7545C>G (p.Ser2515=)
c.810C>G (p.Ser270=)
n.1066C>G
c.7725C>G (p.Ser2575=)
c.7659C>G (p.Ser2553=)
c.7722C>G (p.Ser2574=)
c.7719C>G (p.Ser2573=)
c.7665C>G (p.Ser2555=)
c.7635C>G (p.Ser2545=)
c.7590C>G (p.Ser2530=)
c.7185C>G (p.Ser2395=)
c.6543C>G (p.Ser2181=)
c.4053C>G (p.Ser1351=)
10g.71802945C>TCA470062466CDH23c.7530C>T (p.Ser2510=)
c.1463C>T (n.1463C>T)
c.1127C>T (n.1127C>T)
c.7545C>T (p.Ser2515=)
c.810C>T (p.Ser270=)
n.1066C>T
c.7725C>T (p.Ser2575=)
c.7659C>T (p.Ser2553=)
c.7722C>T (p.Ser2574=)
c.7719C>T (p.Ser2573=)
c.7665C>T (p.Ser2555=)
c.7635C>T (p.Ser2545=)
c.7590C>T (p.Ser2530=)
c.7185C>T (p.Ser2395=)
c.6543C>T (p.Ser2181=)
c.4053C>T (p.Ser1351=)
10g.71802946A>CCA377160476CDH23c.7531A>C (p.Lys2511Gln)
c.1464A>C (n.1464A>C)
c.1128A>C (n.1128A>C)
c.7546A>C (p.Lys2516Gln)
c.811A>C (p.Lys271Gln)
n.1067A>C
c.7726A>C (p.Lys2576Gln)
c.7660A>C (p.Lys2554Gln)
c.7723A>C (p.Lys2575Gln)
c.7720A>C (p.Lys2574Gln)
c.7666A>C (p.Lys2556Gln)
c.7636A>C (p.Lys2546Gln)
c.7591A>C (p.Lys2531Gln)
c.7186A>C (p.Lys2396Gln)
c.6544A>C (p.Lys2182Gln)
c.4054A>C (p.Lys1352Gln)
10g.71802946A>GCA377160479CDH23c.7531A>G (p.Lys2511Glu)
c.1464A>G (n.1464A>G)
c.1128A>G (n.1128A>G)
c.7546A>G (p.Lys2516Glu)
c.811A>G (p.Lys271Glu)
n.1067A>G
c.7726A>G (p.Lys2576Glu)
c.7660A>G (p.Lys2554Glu)
c.7723A>G (p.Lys2575Glu)
c.7720A>G (p.Lys2574Glu)
c.7666A>G (p.Lys2556Glu)
c.7636A>G (p.Lys2546Glu)
c.7591A>G (p.Lys2531Glu)
c.7186A>G (p.Lys2396Glu)
c.6544A>G (p.Lys2182Glu)
c.4054A>G (p.Lys1352Glu)
10g.71802946A>TCA377160477CDH23c.7531A>T (p.Lys2511Ter)
c.1464A>T (n.1464A>T)
c.1128A>T (n.1128A>T)
c.7546A>T (p.Lys2516Ter)
c.811A>T (p.Lys271Ter)
n.1067A>T
c.7726A>T (p.Lys2576Ter)
c.7660A>T (p.Lys2554Ter)
c.7723A>T (p.Lys2575Ter)
c.7720A>T (p.Lys2574Ter)
c.7666A>T (p.Lys2556Ter)
c.7636A>T (p.Lys2546Ter)
c.7591A>T (p.Lys2531Ter)
c.7186A>T (p.Lys2396Ter)
c.6544A>T (p.Lys2182Ter)
c.4054A>T (p.Lys1352Ter)
10g.71802947A>CCA377160480CDH23c.7532A>C (p.Lys2511Thr)
c.1465A>C (n.1465A>C)
c.1129A>C (n.1129A>C)
c.7547A>C (p.Lys2516Thr)
c.812A>C (p.Lys271Thr)
n.1068A>C
c.7727A>C (p.Lys2576Thr)
c.7661A>C (p.Lys2554Thr)
c.7724A>C (p.Lys2575Thr)
c.7721A>C (p.Lys2574Thr)
c.7667A>C (p.Lys2556Thr)
c.7637A>C (p.Lys2546Thr)
c.7592A>C (p.Lys2531Thr)
c.7187A>C (p.Lys2396Thr)
c.6545A>C (p.Lys2182Thr)
c.4055A>C (p.Lys1352Thr)
10g.71802947A>GCA377160482CDH23c.7532A>G (p.Lys2511Arg)
c.1465A>G (n.1465A>G)
c.1129A>G (n.1129A>G)
c.7547A>G (p.Lys2516Arg)
c.812A>G (p.Lys271Arg)
n.1068A>G
c.7727A>G (p.Lys2576Arg)
c.7661A>G (p.Lys2554Arg)
c.7724A>G (p.Lys2575Arg)
c.7721A>G (p.Lys2574Arg)
c.7667A>G (p.Lys2556Arg)
c.7637A>G (p.Lys2546Arg)
c.7592A>G (p.Lys2531Arg)
c.7187A>G (p.Lys2396Arg)
c.6545A>G (p.Lys2182Arg)
c.4055A>G (p.Lys1352Arg)
10g.71802947A>TCA377160484CDH23c.7532A>T (p.Lys2511Met)
c.1465A>T (n.1465A>T)
c.1129A>T (n.1129A>T)
c.7547A>T (p.Lys2516Met)
c.812A>T (p.Lys271Met)
n.1068A>T
c.7727A>T (p.Lys2576Met)
c.7661A>T (p.Lys2554Met)
c.7724A>T (p.Lys2575Met)
c.7721A>T (p.Lys2574Met)
c.7667A>T (p.Lys2556Met)
c.7637A>T (p.Lys2546Met)
c.7592A>T (p.Lys2531Met)
c.7187A>T (p.Lys2396Met)
c.6545A>T (p.Lys2182Met)
c.4055A>T (p.Lys1352Met)
10g.71802948G>ACA470062467CDH23c.7533G>A (p.Lys2511=)
c.1466G>A (n.1466G>A)
c.1130G>A (n.1130G>A)
c.7548G>A (p.Lys2516=)
c.813G>A (p.Lys271=)
n.1069G>A
c.7728G>A (p.Lys2576=)
c.7662G>A (p.Lys2554=)
c.7725G>A (p.Lys2575=)
c.7722G>A (p.Lys2574=)
c.7668G>A (p.Lys2556=)
c.7638G>A (p.Lys2546=)
c.7593G>A (p.Lys2531=)
c.7188G>A (p.Lys2396=)
c.6546G>A (p.Lys2182=)
c.4056G>A (p.Lys1352=)
10g.71802948G>CCA377160486CDH23c.7533G>C (p.Lys2511Asn)
c.1466G>C (n.1466G>C)
c.1130G>C (n.1130G>C)
c.7548G>C (p.Lys2516Asn)
c.813G>C (p.Lys271Asn)
n.1069G>C
c.7728G>C (p.Lys2576Asn)
c.7662G>C (p.Lys2554Asn)
c.7725G>C (p.Lys2575Asn)
c.7722G>C (p.Lys2574Asn)
c.7668G>C (p.Lys2556Asn)
c.7638G>C (p.Lys2546Asn)
c.7593G>C (p.Lys2531Asn)
c.7188G>C (p.Lys2396Asn)
c.6546G>C (p.Lys2182Asn)
c.4056G>C (p.Lys1352Asn)
10g.71802948G>TCA377160488CDH23c.7533G>T (p.Lys2511Asn)
c.1466G>T (n.1466G>T)
c.1130G>T (n.1130G>T)
c.7548G>T (p.Lys2516Asn)
c.813G>T (p.Lys271Asn)
n.1069G>T
c.7728G>T (p.Lys2576Asn)
c.7662G>T (p.Lys2554Asn)
c.7725G>T (p.Lys2575Asn)
c.7722G>T (p.Lys2574Asn)
c.7668G>T (p.Lys2556Asn)
c.7638G>T (p.Lys2546Asn)
c.7593G>T (p.Lys2531Asn)
c.7188G>T (p.Lys2396Asn)
c.6546G>T (p.Lys2182Asn)
c.4056G>T (p.Lys1352Asn)
10g.71802949C>ACA377160490CDH23c.7534C>A (p.Pro2512Thr)
c.1467C>A (n.1467C>A)
c.1131C>A (n.1131C>A)
c.7549C>A (p.Pro2517Thr)
c.814C>A (p.Pro272Thr)
n.1070C>A
c.7729C>A (p.Pro2577Thr)
c.7663C>A (p.Pro2555Thr)
c.7726C>A (p.Pro2576Thr)
c.7723C>A (p.Pro2575Thr)
c.7669C>A (p.Pro2557Thr)
c.7639C>A (p.Pro2547Thr)
c.7594C>A (p.Pro2532Thr)
c.7189C>A (p.Pro2397Thr)
c.6547C>A (p.Pro2183Thr)
c.4057C>A (p.Pro1353Thr)
 gnomAD v4
10g.71802949C>GCA377160492CDH23c.7534C>G (p.Pro2512Ala)
c.1467C>G (n.1467C>G)
c.1131C>G (n.1131C>G)
c.7549C>G (p.Pro2517Ala)
c.814C>G (p.Pro272Ala)
n.1070C>G
c.7729C>G (p.Pro2577Ala)
c.7663C>G (p.Pro2555Ala)
c.7726C>G (p.Pro2576Ala)
c.7723C>G (p.Pro2575Ala)
c.7669C>G (p.Pro2557Ala)
c.7639C>G (p.Pro2547Ala)
c.7594C>G (p.Pro2532Ala)
c.7189C>G (p.Pro2397Ala)
c.6547C>G (p.Pro2183Ala)
c.4057C>G (p.Pro1353Ala)
10g.71802949C>TCA377160498CDH23c.7534C>T (p.Pro2512Ser)
c.1467C>T (n.1467C>T)
c.1131C>T (n.1131C>T)
c.7549C>T (p.Pro2517Ser)
c.814C>T (p.Pro272Ser)
n.1070C>T
c.7729C>T (p.Pro2577Ser)
c.7663C>T (p.Pro2555Ser)
c.7726C>T (p.Pro2576Ser)
c.7723C>T (p.Pro2575Ser)
c.7669C>T (p.Pro2557Ser)
c.7639C>T (p.Pro2547Ser)
c.7594C>T (p.Pro2532Ser)
c.7189C>T (p.Pro2397Ser)
c.6547C>T (p.Pro2183Ser)
c.4057C>T (p.Pro1353Ser)
10g.71802950C>ACA377160501CDH23c.7535C>A (p.Pro2512His)
c.1468C>A (n.1468C>A)
c.1132C>A (n.1132C>A)
c.7550C>A (p.Pro2517His)
c.815C>A (p.Pro272His)
n.1071C>A
c.7730C>A (p.Pro2577His)
c.7664C>A (p.Pro2555His)
c.7727C>A (p.Pro2576His)
c.7724C>A (p.Pro2575His)
c.7670C>A (p.Pro2557His)
c.7640C>A (p.Pro2547His)
c.7595C>A (p.Pro2532His)
c.7190C>A (p.Pro2397His)
c.6548C>A (p.Pro2183His)
c.4058C>A (p.Pro1353His)
10g.71802950C=CA1918880406CDH23c.7535C= (p.Pro2512=)
c.1468C= (n.1468C=)
c.1132C= (n.1132C=)
c.7550C= (p.Pro2517=)
c.815C= (p.Pro272=)
n.1071C=
c.7730C= (p.Pro2577=)
c.7664C= (p.Pro2555=)
c.7727C= (p.Pro2576=)
c.7724C= (p.Pro2575=)
c.7670C= (p.Pro2557=)
c.7640C= (p.Pro2547=)
c.7595C= (p.Pro2532=)
c.7190C= (p.Pro2397=)
c.6548C= (p.Pro2183=)
c.4058C= (p.Pro1353=)
10g.71802950C>GCA377160502CDH23c.7535C>G (p.Pro2512Arg)
c.1468C>G (n.1468C>G)
c.1132C>G (n.1132C>G)
c.7550C>G (p.Pro2517Arg)
c.815C>G (p.Pro272Arg)
n.1071C>G
c.7730C>G (p.Pro2577Arg)
c.7664C>G (p.Pro2555Arg)
c.7727C>G (p.Pro2576Arg)
c.7724C>G (p.Pro2575Arg)
c.7670C>G (p.Pro2557Arg)
c.7640C>G (p.Pro2547Arg)
c.7595C>G (p.Pro2532Arg)
c.7190C>G (p.Pro2397Arg)
c.6548C>G (p.Pro2183Arg)
c.4058C>G (p.Pro1353Arg)
10g.71802950C>TCA377160503CDH23c.7535C>T (p.Pro2512Leu)
c.1468C>T (n.1468C>T)
c.1132C>T (n.1132C>T)
c.7550C>T (p.Pro2517Leu)
c.815C>T (p.Pro272Leu)
n.1071C>T
c.7730C>T (p.Pro2577Leu)
c.7664C>T (p.Pro2555Leu)
c.7727C>T (p.Pro2576Leu)
c.7724C>T (p.Pro2575Leu)
c.7670C>T (p.Pro2557Leu)
c.7640C>T (p.Pro2547Leu)
c.7595C>T (p.Pro2532Leu)
c.7190C>T (p.Pro2397Leu)
c.6548C>T (p.Pro2183Leu)
c.4058C>T (p.Pro1353Leu)
 dbSNP gnomAD v4
10g.71802951C>ACA209472436CDH23c.7536C>A (p.Pro2512=)
c.1469C>A (n.1469C>A)
c.1133C>A (n.1133C>A)
c.7551C>A (p.Pro2517=)
c.816C>A (p.Pro272=)
n.1072C>A
c.7731C>A (p.Pro2577=)
c.7665C>A (p.Pro2555=)
c.7728C>A (p.Pro2576=)
c.7725C>A (p.Pro2575=)
c.7671C>A (p.Pro2557=)
c.7641C>A (p.Pro2547=)
c.7596C>A (p.Pro2532=)
c.7191C>A (p.Pro2397=)
c.6549C>A (p.Pro2183=)
c.4059C>A (p.Pro1353=)
 dbSNP gnomAD v4
10g.71802951C=CA1918880407CDH23c.7536C= (p.Pro2512=)
c.1469C= (n.1469C=)
c.1133C= (n.1133C=)
c.7551C= (p.Pro2517=)
c.816C= (p.Pro272=)
n.1072C=
c.7731C= (p.Pro2577=)
c.7665C= (p.Pro2555=)
c.7728C= (p.Pro2576=)
c.7725C= (p.Pro2575=)
c.7671C= (p.Pro2557=)
c.7641C= (p.Pro2547=)
c.7596C= (p.Pro2532=)
c.7191C= (p.Pro2397=)
c.6549C= (p.Pro2183=)
c.4059C= (p.Pro1353=)
10g.71802951C>GCA470062469CDH23c.7536C>G (p.Pro2512=)
c.1469C>G (n.1469C>G)
c.1133C>G (n.1133C>G)
c.7551C>G (p.Pro2517=)
c.816C>G (p.Pro272=)
n.1072C>G
c.7731C>G (p.Pro2577=)
c.7665C>G (p.Pro2555=)
c.7728C>G (p.Pro2576=)
c.7725C>G (p.Pro2575=)
c.7671C>G (p.Pro2557=)
c.7641C>G (p.Pro2547=)
c.7596C>G (p.Pro2532=)
c.7191C>G (p.Pro2397=)
c.6549C>G (p.Pro2183=)
c.4059C>G (p.Pro1353=)
 dbSNP
10g.71802951C>TCA5546374CDH23c.7536C>T (p.Pro2512=)
c.1469C>T (n.1469C>T)
c.1133C>T (n.1133C>T)
c.7551C>T (p.Pro2517=)
c.816C>T (p.Pro272=)
n.1072C>T
c.7731C>T (p.Pro2577=)
c.7665C>T (p.Pro2555=)
c.7728C>T (p.Pro2576=)
c.7725C>T (p.Pro2575=)
c.7671C>T (p.Pro2557=)
c.7641C>T (p.Pro2547=)
c.7596C>T (p.Pro2532=)
c.7191C>T (p.Pro2397=)
c.6549C>T (p.Pro2183=)
c.4059C>T (p.Pro1353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802952C>ACA377160509CDH23c.7537C>A (p.Gln2513Lys)
c.1470C>A (n.1470C>A)
c.1134C>A (n.1134C>A)
c.7552C>A (p.Gln2518Lys)
c.817C>A (p.Gln273Lys)
n.1073C>A
c.7732C>A (p.Gln2578Lys)
c.7666C>A (p.Gln2556Lys)
c.7729C>A (p.Gln2577Lys)
c.7726C>A (p.Gln2576Lys)
c.7672C>A (p.Gln2558Lys)
c.7642C>A (p.Gln2548Lys)
c.7597C>A (p.Gln2533Lys)
c.7192C>A (p.Gln2398Lys)
c.6550C>A (p.Gln2184Lys)
c.4060C>A (p.Gln1354Lys)
10g.71802952C>GCA377160507CDH23c.7537C>G (p.Gln2513Glu)
c.1470C>G (n.1470C>G)
c.1134C>G (n.1134C>G)
c.7552C>G (p.Gln2518Glu)
c.817C>G (p.Gln273Glu)
n.1073C>G
c.7732C>G (p.Gln2578Glu)
c.7666C>G (p.Gln2556Glu)
c.7729C>G (p.Gln2577Glu)
c.7726C>G (p.Gln2576Glu)
c.7672C>G (p.Gln2558Glu)
c.7642C>G (p.Gln2548Glu)
c.7597C>G (p.Gln2533Glu)
c.7192C>G (p.Gln2398Glu)
c.6550C>G (p.Gln2184Glu)
c.4060C>G (p.Gln1354Glu)
10g.71802952C>TCA377160508CDH23c.7537C>T (p.Gln2513Ter)
c.1470C>T (n.1470C>T)
c.1134C>T (n.1134C>T)
c.7552C>T (p.Gln2518Ter)
c.817C>T (p.Gln273Ter)
n.1073C>T
c.7732C>T (p.Gln2578Ter)
c.7666C>T (p.Gln2556Ter)
c.7729C>T (p.Gln2577Ter)
c.7726C>T (p.Gln2576Ter)
c.7672C>T (p.Gln2558Ter)
c.7642C>T (p.Gln2548Ter)
c.7597C>T (p.Gln2533Ter)
c.7192C>T (p.Gln2398Ter)
c.6550C>T (p.Gln2184Ter)
c.4060C>T (p.Gln1354Ter)
10g.71802953A>CCA377160511CDH23c.7538A>C (p.Gln2513Pro)
c.1471A>C (n.1471A>C)
c.1135A>C (n.1135A>C)
c.7553A>C (p.Gln2518Pro)
c.818A>C (p.Gln273Pro)
n.1074A>C
c.7733A>C (p.Gln2578Pro)
c.7667A>C (p.Gln2556Pro)
c.7730A>C (p.Gln2577Pro)
c.7727A>C (p.Gln2576Pro)
c.7673A>C (p.Gln2558Pro)
c.7643A>C (p.Gln2548Pro)
c.7598A>C (p.Gln2533Pro)
c.7193A>C (p.Gln2398Pro)
c.6551A>C (p.Gln2184Pro)
c.4061A>C (p.Gln1354Pro)
10g.71802953A>GCA377160513CDH23c.7538A>G (p.Gln2513Arg)
c.1471A>G (n.1471A>G)
c.1135A>G (n.1135A>G)
c.7553A>G (p.Gln2518Arg)
c.818A>G (p.Gln273Arg)
n.1074A>G
c.7733A>G (p.Gln2578Arg)
c.7667A>G (p.Gln2556Arg)
c.7730A>G (p.Gln2577Arg)
c.7727A>G (p.Gln2576Arg)
c.7673A>G (p.Gln2558Arg)
c.7643A>G (p.Gln2548Arg)
c.7598A>G (p.Gln2533Arg)
c.7193A>G (p.Gln2398Arg)
c.6551A>G (p.Gln2184Arg)
c.4061A>G (p.Gln1354Arg)
10g.71802953A>TCA377160515CDH23c.7538A>T (p.Gln2513Leu)
c.1471A>T (n.1471A>T)
c.1135A>T (n.1135A>T)
c.7553A>T (p.Gln2518Leu)
c.818A>T (p.Gln273Leu)
n.1074A>T
c.7733A>T (p.Gln2578Leu)
c.7667A>T (p.Gln2556Leu)
c.7730A>T (p.Gln2577Leu)
c.7727A>T (p.Gln2576Leu)
c.7673A>T (p.Gln2558Leu)
c.7643A>T (p.Gln2548Leu)
c.7598A>T (p.Gln2533Leu)
c.7193A>T (p.Gln2398Leu)
c.6551A>T (p.Gln2184Leu)
c.4061A>T (p.Gln1354Leu)
10g.71802954G>ACA470062470CDH23c.7539G>A (p.Gln2513=)
c.1472G>A (n.1472G>A)
c.1136G>A (n.1136G>A)
c.7554G>A (p.Gln2518=)
c.819G>A (p.Gln273=)
n.1075G>A
c.7734G>A (p.Gln2578=)
c.7668G>A (p.Gln2556=)
c.7731G>A (p.Gln2577=)
c.7728G>A (p.Gln2576=)
c.7674G>A (p.Gln2558=)
c.7644G>A (p.Gln2548=)
c.7599G>A (p.Gln2533=)
c.7194G>A (p.Gln2398=)
c.6552G>A (p.Gln2184=)
c.4062G>A (p.Gln1354=)
10g.71802954G>CCA377160517CDH23c.7539G>C (p.Gln2513His)
c.1472G>C (n.1472G>C)
c.1136G>C (n.1136G>C)
c.7554G>C (p.Gln2518His)
c.819G>C (p.Gln273His)
n.1075G>C
c.7734G>C (p.Gln2578His)
c.7668G>C (p.Gln2556His)
c.7731G>C (p.Gln2577His)
c.7728G>C (p.Gln2576His)
c.7674G>C (p.Gln2558His)
c.7644G>C (p.Gln2548His)
c.7599G>C (p.Gln2533His)
c.7194G>C (p.Gln2398His)
c.6552G>C (p.Gln2184His)
c.4062G>C (p.Gln1354His)
 dbSNP gnomAD v2 gnomAD v4
10g.71802954G=CA1918880408CDH23c.7539G= (p.Gln2513=)
c.1472G= (n.1472G=)
c.1136G= (n.1136G=)
c.7554G= (p.Gln2518=)
c.819G= (p.Gln273=)
n.1075G=
c.7734G= (p.Gln2578=)
c.7668G= (p.Gln2556=)
c.7731G= (p.Gln2577=)
c.7728G= (p.Gln2576=)
c.7674G= (p.Gln2558=)
c.7644G= (p.Gln2548=)
c.7599G= (p.Gln2533=)
c.7194G= (p.Gln2398=)
c.6552G= (p.Gln2184=)
c.4062G= (p.Gln1354=)
10g.71802954G>TCA377160519CDH23c.7539G>T (p.Gln2513His)
c.1472G>T (n.1472G>T)
c.1136G>T (n.1136G>T)
c.7554G>T (p.Gln2518His)
c.819G>T (p.Gln273His)
n.1075G>T
c.7734G>T (p.Gln2578His)
c.7668G>T (p.Gln2556His)
c.7731G>T (p.Gln2577His)
c.7728G>T (p.Gln2576His)
c.7674G>T (p.Gln2558His)
c.7644G>T (p.Gln2548His)
c.7599G>T (p.Gln2533His)
c.7194G>T (p.Gln2398His)
c.6552G>T (p.Gln2184His)
c.4062G>T (p.Gln1354His)
10g.71802955T>ACA377160520CDH23c.7540T>A (p.Phe2514Ile)
c.1473T>A (n.1473T>A)
c.1137T>A (n.1137T>A)
c.7555T>A (p.Phe2519Ile)
c.820T>A (p.Phe274Ile)
n.1076T>A
c.7735T>A (p.Phe2579Ile)
c.7669T>A (p.Phe2557Ile)
c.7732T>A (p.Phe2578Ile)
c.7729T>A (p.Phe2577Ile)
c.7675T>A (p.Phe2559Ile)
c.7645T>A (p.Phe2549Ile)
c.7600T>A (p.Phe2534Ile)
c.7195T>A (p.Phe2399Ile)
c.6553T>A (p.Phe2185Ile)
c.4063T>A (p.Phe1355Ile)
10g.71802955T>CCA377160522CDH23c.7540T>C (p.Phe2514Leu)
c.1473T>C (n.1473T>C)
c.1137T>C (n.1137T>C)
c.7555T>C (p.Phe2519Leu)
c.820T>C (p.Phe274Leu)
n.1076T>C
c.7735T>C (p.Phe2579Leu)
c.7669T>C (p.Phe2557Leu)
c.7732T>C (p.Phe2578Leu)
c.7729T>C (p.Phe2577Leu)
c.7675T>C (p.Phe2559Leu)
c.7645T>C (p.Phe2549Leu)
c.7600T>C (p.Phe2534Leu)
c.7195T>C (p.Phe2399Leu)
c.6553T>C (p.Phe2185Leu)
c.4063T>C (p.Phe1355Leu)
10g.71802955T>GCA377160523CDH23c.7540T>G (p.Phe2514Val)
c.1473T>G (n.1473T>G)
c.1137T>G (n.1137T>G)
c.7555T>G (p.Phe2519Val)
c.820T>G (p.Phe274Val)
n.1076T>G
c.7735T>G (p.Phe2579Val)
c.7669T>G (p.Phe2557Val)
c.7732T>G (p.Phe2578Val)
c.7729T>G (p.Phe2577Val)
c.7675T>G (p.Phe2559Val)
c.7645T>G (p.Phe2549Val)
c.7600T>G (p.Phe2534Val)
c.7195T>G (p.Phe2399Val)
c.6553T>G (p.Phe2185Val)
c.4063T>G (p.Phe1355Val)
10g.71802956T>ACA377160527CDH23c.7541T>A (p.Phe2514Tyr)
c.1474T>A (n.1474T>A)
c.1138T>A (n.1138T>A)
c.7556T>A (p.Phe2519Tyr)
c.821T>A (p.Phe274Tyr)
n.1077T>A
c.7736T>A (p.Phe2579Tyr)
c.7670T>A (p.Phe2557Tyr)
c.7733T>A (p.Phe2578Tyr)
c.7730T>A (p.Phe2577Tyr)
c.7676T>A (p.Phe2559Tyr)
c.7646T>A (p.Phe2549Tyr)
c.7601T>A (p.Phe2534Tyr)
c.7196T>A (p.Phe2399Tyr)
c.6554T>A (p.Phe2185Tyr)
c.4064T>A (p.Phe1355Tyr)
10g.71802956T>CCA377160528CDH23c.7541T>C (p.Phe2514Ser)
c.1474T>C (n.1474T>C)
c.1138T>C (n.1138T>C)
c.7556T>C (p.Phe2519Ser)
c.821T>C (p.Phe274Ser)
n.1077T>C
c.7736T>C (p.Phe2579Ser)
c.7670T>C (p.Phe2557Ser)
c.7733T>C (p.Phe2578Ser)
c.7730T>C (p.Phe2577Ser)
c.7676T>C (p.Phe2559Ser)
c.7646T>C (p.Phe2549Ser)
c.7601T>C (p.Phe2534Ser)
c.7196T>C (p.Phe2399Ser)
c.6554T>C (p.Phe2185Ser)
c.4064T>C (p.Phe1355Ser)
10g.71802956T>GCA377160531CDH23c.7541T>G (p.Phe2514Cys)
c.1474T>G (n.1474T>G)
c.1138T>G (n.1138T>G)
c.7556T>G (p.Phe2519Cys)
c.821T>G (p.Phe274Cys)
n.1077T>G
c.7736T>G (p.Phe2579Cys)
c.7670T>G (p.Phe2557Cys)
c.7733T>G (p.Phe2578Cys)
c.7730T>G (p.Phe2577Cys)
c.7676T>G (p.Phe2559Cys)
c.7646T>G (p.Phe2549Cys)
c.7601T>G (p.Phe2534Cys)
c.7196T>G (p.Phe2399Cys)
c.6554T>G (p.Phe2185Cys)
c.4064T>G (p.Phe1355Cys)
10g.71802957C>ACA377160534CDH23c.7542C>A (p.Phe2514Leu)
c.1475C>A (n.1475C>A)
c.1139C>A (n.1139C>A)
c.7557C>A (p.Phe2519Leu)
c.822C>A (p.Phe274Leu)
n.1078C>A
c.7737C>A (p.Phe2579Leu)
c.7671C>A (p.Phe2557Leu)
c.7734C>A (p.Phe2578Leu)
c.7731C>A (p.Phe2577Leu)
c.7677C>A (p.Phe2559Leu)
c.7647C>A (p.Phe2549Leu)
c.7602C>A (p.Phe2534Leu)
c.7197C>A (p.Phe2399Leu)
c.6555C>A (p.Phe2185Leu)
c.4065C>A (p.Phe1355Leu)
 COSMIC
10g.71802957C>GCA377160533CDH23c.7542C>G (p.Phe2514Leu)
c.1475C>G (n.1475C>G)
c.1139C>G (n.1139C>G)
c.7557C>G (p.Phe2519Leu)
c.822C>G (p.Phe274Leu)
n.1078C>G
c.7737C>G (p.Phe2579Leu)
c.7671C>G (p.Phe2557Leu)
c.7734C>G (p.Phe2578Leu)
c.7731C>G (p.Phe2577Leu)
c.7677C>G (p.Phe2559Leu)
c.7647C>G (p.Phe2549Leu)
c.7602C>G (p.Phe2534Leu)
c.7197C>G (p.Phe2399Leu)
c.6555C>G (p.Phe2185Leu)
c.4065C>G (p.Phe1355Leu)
10g.71802957C>TCA470062471CDH23c.7542C>T (p.Phe2514=)
c.1475C>T (n.1475C>T)
c.1139C>T (n.1139C>T)
c.7557C>T (p.Phe2519=)
c.822C>T (p.Phe274=)
n.1078C>T
c.7737C>T (p.Phe2579=)
c.7671C>T (p.Phe2557=)
c.7734C>T (p.Phe2578=)
c.7731C>T (p.Phe2577=)
c.7677C>T (p.Phe2559=)
c.7647C>T (p.Phe2549=)
c.7602C>T (p.Phe2534=)
c.7197C>T (p.Phe2399=)
c.6555C>T (p.Phe2185=)
c.4065C>T (p.Phe1355=)
10g.71802958A>CCA377160536CDH23c.7543A>C (p.Ser2515Arg)
c.1476A>C (n.1476A>C)
c.1140A>C (n.1140A>C)
c.7558A>C (p.Ser2520Arg)
c.823A>C (p.Ser275Arg)
n.1079A>C
c.7738A>C (p.Ser2580Arg)
c.7672A>C (p.Ser2558Arg)
c.7735A>C (p.Ser2579Arg)
c.7732A>C (p.Ser2578Arg)
c.7678A>C (p.Ser2560Arg)
c.7648A>C (p.Ser2550Arg)
c.7603A>C (p.Ser2535Arg)
c.7198A>C (p.Ser2400Arg)
c.6556A>C (p.Ser2186Arg)
c.4066A>C (p.Ser1356Arg)
 gnomAD v4
10g.71802958A>GCA377160538CDH23c.7543A>G (p.Ser2515Gly)
c.1476A>G (n.1476A>G)
c.1140A>G (n.1140A>G)
c.7558A>G (p.Ser2520Gly)
c.823A>G (p.Ser275Gly)
n.1079A>G
c.7738A>G (p.Ser2580Gly)
c.7672A>G (p.Ser2558Gly)
c.7735A>G (p.Ser2579Gly)
c.7732A>G (p.Ser2578Gly)
c.7678A>G (p.Ser2560Gly)
c.7648A>G (p.Ser2550Gly)
c.7603A>G (p.Ser2535Gly)
c.7198A>G (p.Ser2400Gly)
c.6556A>G (p.Ser2186Gly)
c.4066A>G (p.Ser1356Gly)
10g.71802958A>TCA377160541CDH23c.7543A>T (p.Ser2515Cys)
c.1476A>T (n.1476A>T)
c.1140A>T (n.1140A>T)
c.7558A>T (p.Ser2520Cys)
c.823A>T (p.Ser275Cys)
n.1079A>T
c.7738A>T (p.Ser2580Cys)
c.7672A>T (p.Ser2558Cys)
c.7735A>T (p.Ser2579Cys)
c.7732A>T (p.Ser2578Cys)
c.7678A>T (p.Ser2560Cys)
c.7648A>T (p.Ser2550Cys)
c.7603A>T (p.Ser2535Cys)
c.7198A>T (p.Ser2400Cys)
c.6556A>T (p.Ser2186Cys)
c.4066A>T (p.Ser1356Cys)
10g.71802959G>ACA377160543CDH23c.7544G>A (p.Ser2515Asn)
c.1477G>A (n.1477G>A)
c.1141G>A (n.1141G>A)
c.7559G>A (p.Ser2520Asn)
c.824G>A (p.Ser275Asn)
n.1080G>A
c.7739G>A (p.Ser2580Asn)
c.7673G>A (p.Ser2558Asn)
c.7736G>A (p.Ser2579Asn)
c.7733G>A (p.Ser2578Asn)
c.7679G>A (p.Ser2560Asn)
c.7649G>A (p.Ser2550Asn)
c.7604G>A (p.Ser2535Asn)
c.7199G>A (p.Ser2400Asn)
c.6557G>A (p.Ser2186Asn)
c.4067G>A (p.Ser1356Asn)
 dbSNP gnomAD v4
10g.71802959G>CCA377160545CDH23c.7544G>C (p.Ser2515Thr)
c.1477G>C (n.1477G>C)
c.1141G>C (n.1141G>C)
c.7559G>C (p.Ser2520Thr)
c.824G>C (p.Ser275Thr)
n.1080G>C
c.7739G>C (p.Ser2580Thr)
c.7673G>C (p.Ser2558Thr)
c.7736G>C (p.Ser2579Thr)
c.7733G>C (p.Ser2578Thr)
c.7679G>C (p.Ser2560Thr)
c.7649G>C (p.Ser2550Thr)
c.7604G>C (p.Ser2535Thr)
c.7199G>C (p.Ser2400Thr)
c.6557G>C (p.Ser2186Thr)
c.4067G>C (p.Ser1356Thr)
10g.71802959G=CA1918880409CDH23c.7544G= (p.Ser2515=)
c.1477G= (n.1477G=)
c.1141G= (n.1141G=)
c.7559G= (p.Ser2520=)
c.824G= (p.Ser275=)
n.1080G=
c.7739G= (p.Ser2580=)
c.7673G= (p.Ser2558=)
c.7736G= (p.Ser2579=)
c.7733G= (p.Ser2578=)
c.7679G= (p.Ser2560=)
c.7649G= (p.Ser2550=)
c.7604G= (p.Ser2535=)
c.7199G= (p.Ser2400=)
c.6557G= (p.Ser2186=)
c.4067G= (p.Ser1356=)
10g.71802959G>TCA377160546CDH23c.7544G>T (p.Ser2515Ile)
c.1477G>T (n.1477G>T)
c.1141G>T (n.1141G>T)
c.7559G>T (p.Ser2520Ile)
c.824G>T (p.Ser275Ile)
n.1080G>T
c.7739G>T (p.Ser2580Ile)
c.7673G>T (p.Ser2558Ile)
c.7736G>T (p.Ser2579Ile)
c.7733G>T (p.Ser2578Ile)
c.7679G>T (p.Ser2560Ile)
c.7649G>T (p.Ser2550Ile)
c.7604G>T (p.Ser2535Ile)
c.7199G>T (p.Ser2400Ile)
c.6557G>T (p.Ser2186Ile)
c.4067G>T (p.Ser1356Ile)
10g.71802960C>ACA377160550CDH23c.7545C>A (p.Ser2515Arg)
c.1478C>A (n.1478C>A)
c.1142C>A (n.1142C>A)
c.7560C>A (p.Ser2520Arg)
c.825C>A (p.Ser275Arg)
n.1081C>A
c.7740C>A (p.Ser2580Arg)
c.7674C>A (p.Ser2558Arg)
c.7737C>A (p.Ser2579Arg)
c.7734C>A (p.Ser2578Arg)
c.7680C>A (p.Ser2560Arg)
c.7650C>A (p.Ser2550Arg)
c.7605C>A (p.Ser2535Arg)
c.7200C>A (p.Ser2400Arg)
c.6558C>A (p.Ser2186Arg)
c.4068C>A (p.Ser1356Arg)
10g.71802960C>GCA377160548CDH23c.7545C>G (p.Ser2515Arg)
c.1478C>G (n.1478C>G)
c.1142C>G (n.1142C>G)
c.7560C>G (p.Ser2520Arg)
c.825C>G (p.Ser275Arg)
n.1081C>G
c.7740C>G (p.Ser2580Arg)
c.7674C>G (p.Ser2558Arg)
c.7737C>G (p.Ser2579Arg)
c.7734C>G (p.Ser2578Arg)
c.7680C>G (p.Ser2560Arg)
c.7650C>G (p.Ser2550Arg)
c.7605C>G (p.Ser2535Arg)
c.7200C>G (p.Ser2400Arg)
c.6558C>G (p.Ser2186Arg)
c.4068C>G (p.Ser1356Arg)
10g.71802960C>TCA470062472CDH23c.7545C>T (p.Ser2515=)
c.1478C>T (n.1478C>T)
c.1142C>T (n.1142C>T)
c.7560C>T (p.Ser2520=)
c.825C>T (p.Ser275=)
n.1081C>T
c.7740C>T (p.Ser2580=)
c.7674C>T (p.Ser2558=)
c.7737C>T (p.Ser2579=)
c.7734C>T (p.Ser2578=)
c.7680C>T (p.Ser2560=)
c.7650C>T (p.Ser2550=)
c.7605C>T (p.Ser2535=)
c.7200C>T (p.Ser2400=)
c.6558C>T (p.Ser2186=)
c.4068C>T (p.Ser1356=)
 gnomAD v4
10g.71802961A=CA1918880410CDH23c.7546A= (p.Thr2516=)
c.1479A= (n.1479A=)
c.1143A= (n.1143A=)
c.7561A= (p.Thr2521=)
c.826A= (p.Thr276=)
n.1082A=
c.7741A= (p.Thr2581=)
c.7675A= (p.Thr2559=)
c.7738A= (p.Thr2580=)
c.7735A= (p.Thr2579=)
c.7681A= (p.Thr2561=)
c.7651A= (p.Thr2551=)
c.7606A= (p.Thr2536=)
c.7201A= (p.Thr2401=)
c.6559A= (p.Thr2187=)
c.4069A= (p.Thr1357=)
10g.71802961A>CCA377160552CDH23c.7546A>C (p.Thr2516Pro)
c.1479A>C (n.1479A>C)
c.1143A>C (n.1143A>C)
c.7561A>C (p.Thr2521Pro)
c.826A>C (p.Thr276Pro)
n.1082A>C
c.7741A>C (p.Thr2581Pro)
c.7675A>C (p.Thr2559Pro)
c.7738A>C (p.Thr2580Pro)
c.7735A>C (p.Thr2579Pro)
c.7681A>C (p.Thr2561Pro)
c.7651A>C (p.Thr2551Pro)
c.7606A>C (p.Thr2536Pro)
c.7201A>C (p.Thr2401Pro)
c.6559A>C (p.Thr2187Pro)
c.4069A>C (p.Thr1357Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.71802961A>GCA377160554CDH23c.7546A>G (p.Thr2516Ala)
c.1479A>G (n.1479A>G)
c.1143A>G (n.1143A>G)
c.7561A>G (p.Thr2521Ala)
c.826A>G (p.Thr276Ala)
n.1082A>G
c.7741A>G (p.Thr2581Ala)
c.7675A>G (p.Thr2559Ala)
c.7738A>G (p.Thr2580Ala)
c.7735A>G (p.Thr2579Ala)
c.7681A>G (p.Thr2561Ala)
c.7651A>G (p.Thr2551Ala)
c.7606A>G (p.Thr2536Ala)
c.7201A>G (p.Thr2401Ala)
c.6559A>G (p.Thr2187Ala)
c.4069A>G (p.Thr1357Ala)
 dbSNP gnomAD v4
10g.71802961A>TCA377160555CDH23c.7546A>T (p.Thr2516Ser)
c.1479A>T (n.1479A>T)
c.1143A>T (n.1143A>T)
c.7561A>T (p.Thr2521Ser)
c.826A>T (p.Thr276Ser)
n.1082A>T
c.7741A>T (p.Thr2581Ser)
c.7675A>T (p.Thr2559Ser)
c.7738A>T (p.Thr2580Ser)
c.7735A>T (p.Thr2579Ser)
c.7681A>T (p.Thr2561Ser)
c.7651A>T (p.Thr2551Ser)
c.7606A>T (p.Thr2536Ser)
c.7201A>T (p.Thr2401Ser)
c.6559A>T (p.Thr2187Ser)
c.4069A>T (p.Thr1357Ser)
10g.71802962C>ACA377160558CDH23c.7547C>A (p.Thr2516Lys)
c.1480C>A (n.1480C>A)
c.1144C>A (n.1144C>A)
c.7562C>A (p.Thr2521Lys)
c.827C>A (p.Thr276Lys)
n.1083C>A
c.7742C>A (p.Thr2581Lys)
c.7676C>A (p.Thr2559Lys)
c.7739C>A (p.Thr2580Lys)
c.7736C>A (p.Thr2579Lys)
c.7682C>A (p.Thr2561Lys)
c.7652C>A (p.Thr2551Lys)
c.7607C>A (p.Thr2536Lys)
c.7202C>A (p.Thr2401Lys)
c.6560C>A (p.Thr2187Lys)
c.4070C>A (p.Thr1357Lys)
10g.71802962C>GCA377160559CDH23c.7547C>G (p.Thr2516Arg)
c.1480C>G (n.1480C>G)
c.1144C>G (n.1144C>G)
c.7562C>G (p.Thr2521Arg)
c.827C>G (p.Thr276Arg)
n.1083C>G
c.7742C>G (p.Thr2581Arg)
c.7676C>G (p.Thr2559Arg)
c.7739C>G (p.Thr2580Arg)
c.7736C>G (p.Thr2579Arg)
c.7682C>G (p.Thr2561Arg)
c.7652C>G (p.Thr2551Arg)
c.7607C>G (p.Thr2536Arg)
c.7202C>G (p.Thr2401Arg)
c.6560C>G (p.Thr2187Arg)
c.4070C>G (p.Thr1357Arg)
10g.71802962C>TCA377160560CDH23c.7547C>T (p.Thr2516Ile)
c.1480C>T (n.1480C>T)
c.1144C>T (n.1144C>T)
c.7562C>T (p.Thr2521Ile)
c.827C>T (p.Thr276Ile)
n.1083C>T
c.7742C>T (p.Thr2581Ile)
c.7676C>T (p.Thr2559Ile)
c.7739C>T (p.Thr2580Ile)
c.7736C>T (p.Thr2579Ile)
c.7682C>T (p.Thr2561Ile)
c.7652C>T (p.Thr2551Ile)
c.7607C>T (p.Thr2536Ile)
c.7202C>T (p.Thr2401Ile)
c.6560C>T (p.Thr2187Ile)
c.4070C>T (p.Thr1357Ile)
10g.71802963A>CCA470062473CDH23c.7548A>C (p.Thr2516=)
c.1481A>C (n.1481A>C)
c.1145A>C (n.1145A>C)
c.7563A>C (p.Thr2521=)
c.828A>C (p.Thr276=)
n.1084A>C
c.7743A>C (p.Thr2581=)
c.7677A>C (p.Thr2559=)
c.7740A>C (p.Thr2580=)
c.7737A>C (p.Thr2579=)
c.7683A>C (p.Thr2561=)
c.7653A>C (p.Thr2551=)
c.7608A>C (p.Thr2536=)
c.7203A>C (p.Thr2401=)
c.6561A>C (p.Thr2187=)
c.4071A>C (p.Thr1357=)
10g.71802963A>GCA470062474CDH23c.7548A>G (p.Thr2516=)
c.1481A>G (n.1481A>G)
c.1145A>G (n.1145A>G)
c.7563A>G (p.Thr2521=)
c.828A>G (p.Thr276=)
n.1084A>G
c.7743A>G (p.Thr2581=)
c.7677A>G (p.Thr2559=)
c.7740A>G (p.Thr2580=)
c.7737A>G (p.Thr2579=)
c.7683A>G (p.Thr2561=)
c.7653A>G (p.Thr2551=)
c.7608A>G (p.Thr2536=)
c.7203A>G (p.Thr2401=)
c.6561A>G (p.Thr2187=)
c.4071A>G (p.Thr1357=)
10g.71802963A>TCA470062475CDH23c.7548A>T (p.Thr2516=)
c.1481A>T (n.1481A>T)
c.1145A>T (n.1145A>T)
c.7563A>T (p.Thr2521=)
c.828A>T (p.Thr276=)
n.1084A>T
c.7743A>T (p.Thr2581=)
c.7677A>T (p.Thr2559=)
c.7740A>T (p.Thr2580=)
c.7737A>T (p.Thr2579=)
c.7683A>T (p.Thr2561=)
c.7653A>T (p.Thr2551=)
c.7608A>T (p.Thr2536=)
c.7203A>T (p.Thr2401=)
c.6561A>T (p.Thr2187=)
c.4071A>T (p.Thr1357=)
10g.71802964delCA470062476CDH23c.7549del (p.Ser2517AlafsTer15)
c.1482del (n.1482del)
c.1146del (n.1146del)
c.7564del (p.Ser2522AlafsTer15)
c.829del (p.Ser277AlafsTer15)
n.1085del
c.7744del (p.Ser2582AlafsTer15)
c.7678del (p.Ser2560AlafsTer15)
c.7741del (p.Ser2581AlafsTer15)
c.7738del (p.Ser2580AlafsTer15)
c.7684del (p.Ser2562AlafsTer15)
c.7654del (p.Ser2552AlafsTer15)
c.7609del (p.Ser2537AlafsTer15)
c.7204del (p.Ser2402AlafsTer15)
c.6562del (p.Ser2188AlafsTer15)
c.4072del (p.Ser1358AlafsTer15)
 COSMIC
10g.71802964A=CA1918880411CDH23c.7549A= (p.Ser2517=)
c.1482A= (n.1482A=)
c.1146A= (n.1146A=)
c.7564A= (p.Ser2522=)
c.829A= (p.Ser277=)
n.1085A=
c.7744A= (p.Ser2582=)
c.7678A= (p.Ser2560=)
c.7741A= (p.Ser2581=)
c.7738A= (p.Ser2580=)
c.7684A= (p.Ser2562=)
c.7654A= (p.Ser2552=)
c.7609A= (p.Ser2537=)
c.7204A= (p.Ser2402=)
c.6562A= (p.Ser2188=)
c.4072A= (p.Ser1358=)
10g.71802964A>CCA377160562CDH23c.7549A>C (p.Ser2517Arg)
c.1482A>C (n.1482A>C)
c.1146A>C (n.1146A>C)
c.7564A>C (p.Ser2522Arg)
c.829A>C (p.Ser277Arg)
n.1085A>C
c.7744A>C (p.Ser2582Arg)
c.7678A>C (p.Ser2560Arg)
c.7741A>C (p.Ser2581Arg)
c.7738A>C (p.Ser2580Arg)
c.7684A>C (p.Ser2562Arg)
c.7654A>C (p.Ser2552Arg)
c.7609A>C (p.Ser2537Arg)
c.7204A>C (p.Ser2402Arg)
c.6562A>C (p.Ser2188Arg)
c.4072A>C (p.Ser1358Arg)
10g.71802964A>GCA5546375CDH23c.7549A>G (p.Ser2517Gly)
c.1482A>G (n.1482A>G)
c.1146A>G (n.1146A>G)
c.7564A>G (p.Ser2522Gly)
c.829A>G (p.Ser277Gly)
n.1085A>G
c.7744A>G (p.Ser2582Gly)
c.7678A>G (p.Ser2560Gly)
c.7741A>G (p.Ser2581Gly)
c.7738A>G (p.Ser2580Gly)
c.7684A>G (p.Ser2562Gly)
c.7654A>G (p.Ser2552Gly)
c.7609A>G (p.Ser2537Gly)
c.7204A>G (p.Ser2402Gly)
c.6562A>G (p.Ser2188Gly)
c.4072A>G (p.Ser1358Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802964A>TCA377160561CDH23c.7549A>T (p.Ser2517Cys)
c.1482A>T (n.1482A>T)
c.1146A>T (n.1146A>T)
c.7564A>T (p.Ser2522Cys)
c.829A>T (p.Ser277Cys)
n.1085A>T
c.7744A>T (p.Ser2582Cys)
c.7678A>T (p.Ser2560Cys)
c.7741A>T (p.Ser2581Cys)
c.7738A>T (p.Ser2580Cys)
c.7684A>T (p.Ser2562Cys)
c.7654A>T (p.Ser2552Cys)
c.7609A>T (p.Ser2537Cys)
c.7204A>T (p.Ser2402Cys)
c.6562A>T (p.Ser2188Cys)
c.4072A>T (p.Ser1358Cys)
10g.71802965G>ACA377160563CDH23c.7550G>A (p.Ser2517Asn)
c.1483G>A (n.1483G>A)
c.1147G>A (n.1147G>A)
c.7565G>A (p.Ser2522Asn)
c.830G>A (p.Ser277Asn)
n.1086G>A
c.7745G>A (p.Ser2582Asn)
c.7679G>A (p.Ser2560Asn)
c.7742G>A (p.Ser2581Asn)
c.7739G>A (p.Ser2580Asn)
c.7685G>A (p.Ser2562Asn)
c.7655G>A (p.Ser2552Asn)
c.7610G>A (p.Ser2537Asn)
c.7205G>A (p.Ser2402Asn)
c.6563G>A (p.Ser2188Asn)
c.4073G>A (p.Ser1358Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.71802965G>CCA377160565CDH23c.7550G>C (p.Ser2517Thr)
c.1483G>C (n.1483G>C)
c.1147G>C (n.1147G>C)
c.7565G>C (p.Ser2522Thr)
c.830G>C (p.Ser277Thr)
n.1086G>C
c.7745G>C (p.Ser2582Thr)
c.7679G>C (p.Ser2560Thr)
c.7742G>C (p.Ser2581Thr)
c.7739G>C (p.Ser2580Thr)
c.7685G>C (p.Ser2562Thr)
c.7655G>C (p.Ser2552Thr)
c.7610G>C (p.Ser2537Thr)
c.7205G>C (p.Ser2402Thr)
c.6563G>C (p.Ser2188Thr)
c.4073G>C (p.Ser1358Thr)
10g.71802965G=CA1918880412CDH23c.7550G= (p.Ser2517=)
c.1483G= (n.1483G=)
c.1147G= (n.1147G=)
c.7565G= (p.Ser2522=)
c.830G= (p.Ser277=)
n.1086G=
c.7745G= (p.Ser2582=)
c.7679G= (p.Ser2560=)
c.7742G= (p.Ser2581=)
c.7739G= (p.Ser2580=)
c.7685G= (p.Ser2562=)
c.7655G= (p.Ser2552=)
c.7610G= (p.Ser2537=)
c.7205G= (p.Ser2402=)
c.6563G= (p.Ser2188=)
c.4073G= (p.Ser1358=)
10g.71802965G>TCA377160572CDH23c.7550G>T (p.Ser2517Ile)
c.1483G>T (n.1483G>T)
c.1147G>T (n.1147G>T)
c.7565G>T (p.Ser2522Ile)
c.830G>T (p.Ser277Ile)
n.1086G>T
c.7745G>T (p.Ser2582Ile)
c.7679G>T (p.Ser2560Ile)
c.7742G>T (p.Ser2581Ile)
c.7739G>T (p.Ser2580Ile)
c.7685G>T (p.Ser2562Ile)
c.7655G>T (p.Ser2552Ile)
c.7610G>T (p.Ser2537Ile)
c.7205G>T (p.Ser2402Ile)
c.6563G>T (p.Ser2188Ile)
c.4073G>T (p.Ser1358Ile)
10g.71802966C>ACA377160574CDH23c.7551C>A (p.Ser2517Arg)
c.1484C>A (n.1484C>A)
c.1148C>A (n.1148C>A)
c.7566C>A (p.Ser2522Arg)
c.831C>A (p.Ser277Arg)
n.1087C>A
c.7746C>A (p.Ser2582Arg)
c.7680C>A (p.Ser2560Arg)
c.7743C>A (p.Ser2581Arg)
c.7740C>A (p.Ser2580Arg)
c.7686C>A (p.Ser2562Arg)
c.7656C>A (p.Ser2552Arg)
c.7611C>A (p.Ser2537Arg)
c.7206C>A (p.Ser2402Arg)
c.6564C>A (p.Ser2188Arg)
c.4074C>A (p.Ser1358Arg)
 ClinVar dbSNP
10g.71802966C=CA1918880413CDH23c.7551C= (p.Ser2517=)
c.1484C= (n.1484C=)
c.1148C= (n.1148C=)
c.7566C= (p.Ser2522=)
c.831C= (p.Ser277=)
n.1087C=
c.7746C= (p.Ser2582=)
c.7680C= (p.Ser2560=)
c.7743C= (p.Ser2581=)
c.7740C= (p.Ser2580=)
c.7686C= (p.Ser2562=)
c.7656C= (p.Ser2552=)
c.7611C= (p.Ser2537=)
c.7206C= (p.Ser2402=)
c.6564C= (p.Ser2188=)
c.4074C= (p.Ser1358=)
10g.71802966C>GCA377160575CDH23c.7551C>G (p.Ser2517Arg)
c.1484C>G (n.1484C>G)
c.1148C>G (n.1148C>G)
c.7566C>G (p.Ser2522Arg)
c.831C>G (p.Ser277Arg)
n.1087C>G
c.7746C>G (p.Ser2582Arg)
c.7680C>G (p.Ser2560Arg)
c.7743C>G (p.Ser2581Arg)
c.7740C>G (p.Ser2580Arg)
c.7686C>G (p.Ser2562Arg)
c.7656C>G (p.Ser2552Arg)
c.7611C>G (p.Ser2537Arg)
c.7206C>G (p.Ser2402Arg)
c.6564C>G (p.Ser2188Arg)
c.4074C>G (p.Ser1358Arg)
 gnomAD v4
10g.71802966C>TCA10628832CDH23c.7551C>T (p.Ser2517=)
c.1484C>T (n.1484C>T)
c.1148C>T (n.1148C>T)
c.7566C>T (p.Ser2522=)
c.831C>T (p.Ser277=)
n.1087C>T
c.7746C>T (p.Ser2582=)
c.7680C>T (p.Ser2560=)
c.7743C>T (p.Ser2581=)
c.7740C>T (p.Ser2580=)
c.7686C>T (p.Ser2562=)
c.7656C>T (p.Ser2552=)
c.7611C>T (p.Ser2537=)
c.7206C>T (p.Ser2402=)
c.6564C>T (p.Ser2188=)
c.4074C>T (p.Ser1358=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71802967G>ACA175519CDH23c.7552G>A (p.Val2518Met)
c.1485G>A (n.1485G>A)
c.1149G>A (n.1149G>A)
c.7567G>A (p.Val2523Met)
c.832G>A (p.Val278Met)
n.1088G>A
c.7747G>A (p.Val2583Met)
c.7681G>A (p.Val2561Met)
c.7744G>A (p.Val2582Met)
c.7741G>A (p.Val2581Met)
c.7687G>A (p.Val2563Met)
c.7657G>A (p.Val2553Met)
c.7612G>A (p.Val2538Met)
c.7207G>A (p.Val2403Met)
c.6565G>A (p.Val2189Met)
c.4075G>A (p.Val1359Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802967G>CCA377160577CDH23c.7552G>C (p.Val2518Leu)
c.1485G>C (n.1485G>C)
c.1149G>C (n.1149G>C)
c.7567G>C (p.Val2523Leu)
c.832G>C (p.Val278Leu)
n.1088G>C
c.7747G>C (p.Val2583Leu)
c.7681G>C (p.Val2561Leu)
c.7744G>C (p.Val2582Leu)
c.7741G>C (p.Val2581Leu)
c.7687G>C (p.Val2563Leu)
c.7657G>C (p.Val2553Leu)
c.7612G>C (p.Val2538Leu)
c.7207G>C (p.Val2403Leu)
c.6565G>C (p.Val2189Leu)
c.4075G>C (p.Val1359Leu)
10g.71802967G=CA1918880414CDH23c.7552G= (p.Val2518=)
c.1485G= (n.1485G=)
c.1149G= (n.1149G=)
c.7567G= (p.Val2523=)
c.832G= (p.Val278=)
n.1088G=
c.7747G= (p.Val2583=)
c.7681G= (p.Val2561=)
c.7744G= (p.Val2582=)
c.7741G= (p.Val2581=)
c.7687G= (p.Val2563=)
c.7657G= (p.Val2553=)
c.7612G= (p.Val2538=)
c.7207G= (p.Val2403=)
c.6565G= (p.Val2189=)
c.4075G= (p.Val1359=)
10g.71802967G>TCA377160578CDH23c.7552G>T (p.Val2518Leu)
c.1485G>T (n.1485G>T)
c.1149G>T (n.1149G>T)
c.7567G>T (p.Val2523Leu)
c.832G>T (p.Val278Leu)
n.1088G>T
c.7747G>T (p.Val2583Leu)
c.7681G>T (p.Val2561Leu)
c.7744G>T (p.Val2582Leu)
c.7741G>T (p.Val2581Leu)
c.7687G>T (p.Val2563Leu)
c.7657G>T (p.Val2553Leu)
c.7612G>T (p.Val2538Leu)
c.7207G>T (p.Val2403Leu)
c.6565G>T (p.Val2189Leu)
c.4075G>T (p.Val1359Leu)
10g.71802968T>ACA377160581CDH23c.7553T>A (p.Val2518Glu)
c.1486T>A (n.1486T>A)
c.1150T>A (n.1150T>A)
c.7568T>A (p.Val2523Glu)
c.833T>A (p.Val278Glu)
n.1089T>A
c.7748T>A (p.Val2583Glu)
c.7682T>A (p.Val2561Glu)
c.7745T>A (p.Val2582Glu)
c.7742T>A (p.Val2581Glu)
c.7688T>A (p.Val2563Glu)
c.7658T>A (p.Val2553Glu)
c.7613T>A (p.Val2538Glu)
c.7208T>A (p.Val2403Glu)
c.6566T>A (p.Val2189Glu)
c.4076T>A (p.Val1359Glu)
10g.71802968T>CCA377160582CDH23c.7553T>C (p.Val2518Ala)
c.1486T>C (n.1486T>C)
c.1150T>C (n.1150T>C)
c.7568T>C (p.Val2523Ala)
c.833T>C (p.Val278Ala)
n.1089T>C
c.7748T>C (p.Val2583Ala)
c.7682T>C (p.Val2561Ala)
c.7745T>C (p.Val2582Ala)
c.7742T>C (p.Val2581Ala)
c.7688T>C (p.Val2563Ala)
c.7658T>C (p.Val2553Ala)
c.7613T>C (p.Val2538Ala)
c.7208T>C (p.Val2403Ala)
c.6566T>C (p.Val2189Ala)
c.4076T>C (p.Val1359Ala)
10g.71802968T>GCA377160584CDH23c.7553T>G (p.Val2518Gly)
c.1486T>G (n.1486T>G)
c.1150T>G (n.1150T>G)
c.7568T>G (p.Val2523Gly)
c.833T>G (p.Val278Gly)
n.1089T>G
c.7748T>G (p.Val2583Gly)
c.7682T>G (p.Val2561Gly)
c.7745T>G (p.Val2582Gly)
c.7742T>G (p.Val2581Gly)
c.7688T>G (p.Val2563Gly)
c.7658T>G (p.Val2553Gly)
c.7613T>G (p.Val2538Gly)
c.7208T>G (p.Val2403Gly)
c.6566T>G (p.Val2189Gly)
c.4076T>G (p.Val1359Gly)
10g.71802969G>ACA470062477CDH23c.7554G>A (p.Val2518=)
c.1487G>A (n.1487G>A)
c.1151G>A (n.1151G>A)
c.7569G>A (p.Val2523=)
c.834G>A (p.Val278=)
n.1090G>A
c.7749G>A (p.Val2583=)
c.7683G>A (p.Val2561=)
c.7746G>A (p.Val2582=)
c.7743G>A (p.Val2581=)
c.7689G>A (p.Val2563=)
c.7659G>A (p.Val2553=)
c.7614G>A (p.Val2538=)
c.7209G>A (p.Val2403=)
c.6567G>A (p.Val2189=)
c.4077G>A (p.Val1359=)
 gnomAD v4
10g.71802969G>CCA470062479CDH23c.7554G>C (p.Val2518=)
c.1487G>C (n.1487G>C)
c.1151G>C (n.1151G>C)
c.7569G>C (p.Val2523=)
c.834G>C (p.Val278=)
n.1090G>C
c.7749G>C (p.Val2583=)
c.7683G>C (p.Val2561=)
c.7746G>C (p.Val2582=)
c.7743G>C (p.Val2581=)
c.7689G>C (p.Val2563=)
c.7659G>C (p.Val2553=)
c.7614G>C (p.Val2538=)
c.7209G>C (p.Val2403=)
c.6567G>C (p.Val2189=)
c.4077G>C (p.Val1359=)
 gnomAD v4
10g.71802969G>TCA470062478CDH23c.7554G>T (p.Val2518=)
c.1487G>T (n.1487G>T)
c.1151G>T (n.1151G>T)
c.7569G>T (p.Val2523=)
c.834G>T (p.Val278=)
n.1090G>T
c.7749G>T (p.Val2583=)
c.7683G>T (p.Val2561=)
c.7746G>T (p.Val2582=)
c.7743G>T (p.Val2581=)
c.7689G>T (p.Val2563=)
c.7659G>T (p.Val2553=)
c.7614G>T (p.Val2538=)
c.7209G>T (p.Val2403=)
c.6567G>T (p.Val2189=)
c.4077G>T (p.Val1359=)
 ClinVar
10g.71802970T>ACA377160585CDH23c.7555T>A (p.Tyr2519Asn)
c.1488T>A (n.1488T>A)
c.1152T>A (n.1152T>A)
c.7570T>A (p.Tyr2524Asn)
c.835T>A (p.Tyr279Asn)
n.1091T>A
c.7750T>A (p.Tyr2584Asn)
c.7684T>A (p.Tyr2562Asn)
c.7747T>A (p.Tyr2583Asn)
c.7744T>A (p.Tyr2582Asn)
c.7690T>A (p.Tyr2564Asn)
c.7660T>A (p.Tyr2554Asn)
c.7615T>A (p.Tyr2539Asn)
c.7210T>A (p.Tyr2404Asn)
c.6568T>A (p.Tyr2190Asn)
c.4078T>A (p.Tyr1360Asn)
10g.71802970T>CCA377160588CDH23c.7555T>C (p.Tyr2519His)
c.1488T>C (n.1488T>C)
c.1152T>C (n.1152T>C)
c.7570T>C (p.Tyr2524His)
c.835T>C (p.Tyr279His)
n.1091T>C
c.7750T>C (p.Tyr2584His)
c.7684T>C (p.Tyr2562His)
c.7747T>C (p.Tyr2583His)
c.7744T>C (p.Tyr2582His)
c.7690T>C (p.Tyr2564His)
c.7660T>C (p.Tyr2554His)
c.7615T>C (p.Tyr2539His)
c.7210T>C (p.Tyr2404His)
c.6568T>C (p.Tyr2190His)
c.4078T>C (p.Tyr1360His)
 gnomAD v4
10g.71802970T>GCA377160586CDH23c.7555T>G (p.Tyr2519Asp)
c.1488T>G (n.1488T>G)
c.1152T>G (n.1152T>G)
c.7570T>G (p.Tyr2524Asp)
c.835T>G (p.Tyr279Asp)
n.1091T>G
c.7750T>G (p.Tyr2584Asp)
c.7684T>G (p.Tyr2562Asp)
c.7747T>G (p.Tyr2583Asp)
c.7744T>G (p.Tyr2582Asp)
c.7690T>G (p.Tyr2564Asp)
c.7660T>G (p.Tyr2554Asp)
c.7615T>G (p.Tyr2539Asp)
c.7210T>G (p.Tyr2404Asp)
c.6568T>G (p.Tyr2190Asp)
c.4078T>G (p.Tyr1360Asp)
10g.71802971A>CCA377160590CDH23c.7556A>C (p.Tyr2519Ser)
c.1489A>C (n.1489A>C)
c.1153A>C (n.1153A>C)
c.7571A>C (p.Tyr2524Ser)
c.836A>C (p.Tyr279Ser)
n.1092A>C
c.7751A>C (p.Tyr2584Ser)
c.7685A>C (p.Tyr2562Ser)
c.7748A>C (p.Tyr2583Ser)
c.7745A>C (p.Tyr2582Ser)
c.7691A>C (p.Tyr2564Ser)
c.7661A>C (p.Tyr2554Ser)
c.7616A>C (p.Tyr2539Ser)
c.7211A>C (p.Tyr2404Ser)
c.6569A>C (p.Tyr2190Ser)
c.4079A>C (p.Tyr1360Ser)
10g.71802971A>GCA377160592CDH23c.7556A>G (p.Tyr2519Cys)
c.1489A>G (n.1489A>G)
c.1153A>G (n.1153A>G)
c.7571A>G (p.Tyr2524Cys)
c.836A>G (p.Tyr279Cys)
n.1092A>G
c.7751A>G (p.Tyr2584Cys)
c.7685A>G (p.Tyr2562Cys)
c.7748A>G (p.Tyr2583Cys)
c.7745A>G (p.Tyr2582Cys)
c.7691A>G (p.Tyr2564Cys)
c.7661A>G (p.Tyr2554Cys)
c.7616A>G (p.Tyr2539Cys)
c.7211A>G (p.Tyr2404Cys)
c.6569A>G (p.Tyr2190Cys)
c.4079A>G (p.Tyr1360Cys)
10g.71802971A>TCA377160594CDH23c.7556A>T (p.Tyr2519Phe)
c.1489A>T (n.1489A>T)
c.1153A>T (n.1153A>T)
c.7571A>T (p.Tyr2524Phe)
c.836A>T (p.Tyr279Phe)
n.1092A>T
c.7751A>T (p.Tyr2584Phe)
c.7685A>T (p.Tyr2562Phe)
c.7748A>T (p.Tyr2583Phe)
c.7745A>T (p.Tyr2582Phe)
c.7691A>T (p.Tyr2564Phe)
c.7661A>T (p.Tyr2554Phe)
c.7616A>T (p.Tyr2539Phe)
c.7211A>T (p.Tyr2404Phe)
c.6569A>T (p.Tyr2190Phe)
c.4079A>T (p.Tyr1360Phe)
10g.71802972T>ACA377160596CDH23c.7557T>A (p.Tyr2519Ter)
c.1490T>A (n.1490T>A)
c.1154T>A (n.1154T>A)
c.7572T>A (p.Tyr2524Ter)
c.837T>A (p.Tyr279Ter)
n.1093T>A
c.7752T>A (p.Tyr2584Ter)
c.7686T>A (p.Tyr2562Ter)
c.7749T>A (p.Tyr2583Ter)
c.7746T>A (p.Tyr2582Ter)
c.7692T>A (p.Tyr2564Ter)
c.7662T>A (p.Tyr2554Ter)
c.7617T>A (p.Tyr2539Ter)
c.7212T>A (p.Tyr2404Ter)
c.6570T>A (p.Tyr2190Ter)
c.4080T>A (p.Tyr1360Ter)
10g.71802972T>CCA470062480CDH23c.7557T>C (p.Tyr2519=)
c.1490T>C (n.1490T>C)
c.1154T>C (n.1154T>C)
c.7572T>C (p.Tyr2524=)
c.837T>C (p.Tyr279=)
n.1093T>C
c.7752T>C (p.Tyr2584=)
c.7686T>C (p.Tyr2562=)
c.7749T>C (p.Tyr2583=)
c.7746T>C (p.Tyr2582=)
c.7692T>C (p.Tyr2564=)
c.7662T>C (p.Tyr2554=)
c.7617T>C (p.Tyr2539=)
c.7212T>C (p.Tyr2404=)
c.6570T>C (p.Tyr2190=)
c.4080T>C (p.Tyr1360=)
 ClinVar dbSNP gnomAD v4
10g.71802972T>GCA377160598CDH23c.7557T>G (p.Tyr2519Ter)
c.1490T>G (n.1490T>G)
c.1154T>G (n.1154T>G)
c.7572T>G (p.Tyr2524Ter)
c.837T>G (p.Tyr279Ter)
n.1093T>G
c.7752T>G (p.Tyr2584Ter)
c.7686T>G (p.Tyr2562Ter)
c.7749T>G (p.Tyr2583Ter)
c.7746T>G (p.Tyr2582Ter)
c.7692T>G (p.Tyr2564Ter)
c.7662T>G (p.Tyr2554Ter)
c.7617T>G (p.Tyr2539Ter)
c.7212T>G (p.Tyr2404Ter)
c.6570T>G (p.Tyr2190Ter)
c.4080T>G (p.Tyr1360Ter)
 ClinVar
10g.71802973G>ACA377160600CDH23c.7558G>A (p.Glu2520Lys)
c.1491G>A (n.1491G>A)
c.1155G>A (n.1155G>A)
c.7573G>A (p.Glu2525Lys)
c.838G>A (p.Glu280Lys)
n.1094G>A
c.7753G>A (p.Glu2585Lys)
c.7687G>A (p.Glu2563Lys)
c.7750G>A (p.Glu2584Lys)
c.7747G>A (p.Glu2583Lys)
c.7693G>A (p.Glu2565Lys)
c.7663G>A (p.Glu2555Lys)
c.7618G>A (p.Glu2540Lys)
c.7213G>A (p.Glu2405Lys)
c.6571G>A (p.Glu2191Lys)
c.4081G>A (p.Glu1361Lys)
 ClinVar dbSNP gnomAD v4
10g.71802973G>CCA377160602CDH23c.7558G>C (p.Glu2520Gln)
c.1491G>C (n.1491G>C)
c.1155G>C (n.1155G>C)
c.7573G>C (p.Glu2525Gln)
c.838G>C (p.Glu280Gln)
n.1094G>C
c.7753G>C (p.Glu2585Gln)
c.7687G>C (p.Glu2563Gln)
c.7750G>C (p.Glu2584Gln)
c.7747G>C (p.Glu2583Gln)
c.7693G>C (p.Glu2565Gln)
c.7663G>C (p.Glu2555Gln)
c.7618G>C (p.Glu2540Gln)
c.7213G>C (p.Glu2405Gln)
c.6571G>C (p.Glu2191Gln)
c.4081G>C (p.Glu1361Gln)
10g.71802973G=CA1918880415CDH23c.7558G= (p.Glu2520=)
c.1491G= (n.1491G=)
c.1155G= (n.1155G=)
c.7573G= (p.Glu2525=)
c.838G= (p.Glu280=)
n.1094G=
c.7753G= (p.Glu2585=)
c.7687G= (p.Glu2563=)
c.7750G= (p.Glu2584=)
c.7747G= (p.Glu2583=)
c.7693G= (p.Glu2565=)
c.7663G= (p.Glu2555=)
c.7618G= (p.Glu2540=)
c.7213G= (p.Glu2405=)
c.6571G= (p.Glu2191=)
c.4081G= (p.Glu1361=)
10g.71802973G>TCA377160603CDH23c.7558G>T (p.Glu2520Ter)
c.1491G>T (n.1491G>T)
c.1155G>T (n.1155G>T)
c.7573G>T (p.Glu2525Ter)
c.838G>T (p.Glu280Ter)
n.1094G>T
c.7753G>T (p.Glu2585Ter)
c.7687G>T (p.Glu2563Ter)
c.7750G>T (p.Glu2584Ter)
c.7747G>T (p.Glu2583Ter)
c.7693G>T (p.Glu2565Ter)
c.7663G>T (p.Glu2555Ter)
c.7618G>T (p.Glu2540Ter)
c.7213G>T (p.Glu2405Ter)
c.6571G>T (p.Glu2191Ter)
c.4081G>T (p.Glu1361Ter)
10g.71802974A>CCA377160606CDH23c.7559A>C (p.Glu2520Ala)
c.1492A>C (n.1492A>C)
c.1156A>C (n.1156A>C)
c.7574A>C (p.Glu2525Ala)
c.839A>C (p.Glu280Ala)
n.1095A>C
c.7754A>C (p.Glu2585Ala)
c.7688A>C (p.Glu2563Ala)
c.7751A>C (p.Glu2584Ala)
c.7748A>C (p.Glu2583Ala)
c.7694A>C (p.Glu2565Ala)
c.7664A>C (p.Glu2555Ala)
c.7619A>C (p.Glu2540Ala)
c.7214A>C (p.Glu2405Ala)
c.6572A>C (p.Glu2191Ala)
c.4082A>C (p.Glu1361Ala)
10g.71802974A>GCA377160607CDH23c.7559A>G (p.Glu2520Gly)
c.1492A>G (n.1492A>G)
c.1156A>G (n.1156A>G)
c.7574A>G (p.Glu2525Gly)
c.839A>G (p.Glu280Gly)
n.1095A>G
c.7754A>G (p.Glu2585Gly)
c.7688A>G (p.Glu2563Gly)
c.7751A>G (p.Glu2584Gly)
c.7748A>G (p.Glu2583Gly)
c.7694A>G (p.Glu2565Gly)
c.7664A>G (p.Glu2555Gly)
c.7619A>G (p.Glu2540Gly)
c.7214A>G (p.Glu2405Gly)
c.6572A>G (p.Glu2191Gly)
c.4082A>G (p.Glu1361Gly)
10g.71802974A>TCA377160609CDH23c.7559A>T (p.Glu2520Val)
c.1492A>T (n.1492A>T)
c.1156A>T (n.1156A>T)
c.7574A>T (p.Glu2525Val)
c.839A>T (p.Glu280Val)
n.1095A>T
c.7754A>T (p.Glu2585Val)
c.7688A>T (p.Glu2563Val)
c.7751A>T (p.Glu2584Val)
c.7748A>T (p.Glu2583Val)
c.7694A>T (p.Glu2565Val)
c.7664A>T (p.Glu2555Val)
c.7619A>T (p.Glu2540Val)
c.7214A>T (p.Glu2405Val)
c.6572A>T (p.Glu2191Val)
c.4082A>T (p.Glu1361Val)
10g.71802974dupCA2580081893CDH23c.7559dup (p.Asn2521GlufsTer2)
c.1492dup (n.1492dup)
c.1156dup (n.1156dup)
c.7574dup (p.Asn2526GlufsTer2)
c.839dup (p.Asn281GlufsTer2)
n.1095dup
c.7754dup (p.Asn2586GlufsTer2)
c.7688dup (p.Asn2564GlufsTer2)
c.7751dup (p.Asn2585GlufsTer2)
c.7748dup (p.Asn2584GlufsTer2)
c.7694dup (p.Asn2566GlufsTer2)
c.7664dup (p.Asn2556GlufsTer2)
c.7619dup (p.Asn2541GlufsTer2)
c.7214dup (p.Asn2406GlufsTer2)
c.6572dup (p.Asn2192GlufsTer2)
c.4082dup (p.Asn1362GlufsTer2)
 ClinVar gnomAD v4
10g.71802975G>ACA470062481CDH23c.7560G>A (p.Glu2520=)
c.1493G>A (n.1493G>A)
c.1157G>A (n.1157G>A)
c.7575G>A (p.Glu2525=)
c.840G>A (p.Glu280=)
n.1096G>A
c.7755G>A (p.Glu2585=)
c.7689G>A (p.Glu2563=)
c.7752G>A (p.Glu2584=)
c.7749G>A (p.Glu2583=)
c.7695G>A (p.Glu2565=)
c.7665G>A (p.Glu2555=)
c.7620G>A (p.Glu2540=)
c.7215G>A (p.Glu2405=)
c.6573G>A (p.Glu2191=)
c.4083G>A (p.Glu1361=)
10g.71802975G>CCA377160610CDH23c.7560G>C (p.Glu2520Asp)
c.1493G>C (n.1493G>C)
c.1157G>C (n.1157G>C)
c.7575G>C (p.Glu2525Asp)
c.840G>C (p.Glu280Asp)
n.1096G>C
c.7755G>C (p.Glu2585Asp)
c.7689G>C (p.Glu2563Asp)
c.7752G>C (p.Glu2584Asp)
c.7749G>C (p.Glu2583Asp)
c.7695G>C (p.Glu2565Asp)
c.7665G>C (p.Glu2555Asp)
c.7620G>C (p.Glu2540Asp)
c.7215G>C (p.Glu2405Asp)
c.6573G>C (p.Glu2191Asp)
c.4083G>C (p.Glu1361Asp)
10g.71802975G>TCA377160612CDH23c.7560G>T (p.Glu2520Asp)
c.1493G>T (n.1493G>T)
c.1157G>T (n.1157G>T)
c.7575G>T (p.Glu2525Asp)
c.840G>T (p.Glu280Asp)
n.1096G>T
c.7755G>T (p.Glu2585Asp)
c.7689G>T (p.Glu2563Asp)
c.7752G>T (p.Glu2584Asp)
c.7749G>T (p.Glu2583Asp)
c.7695G>T (p.Glu2565Asp)
c.7665G>T (p.Glu2555Asp)
c.7620G>T (p.Glu2540Asp)
c.7215G>T (p.Glu2405Asp)
c.6573G>T (p.Glu2191Asp)
c.4083G>T (p.Glu1361Asp)
10g.71802976A>CCA377160618CDH23c.7561A>C (p.Asn2521His)
c.1494A>C (n.1494A>C)
c.1158A>C (n.1158A>C)
c.7576A>C (p.Asn2526His)
c.841A>C (p.Asn281His)
n.1097A>C
c.7756A>C (p.Asn2586His)
c.7690A>C (p.Asn2564His)
c.7753A>C (p.Asn2585His)
c.7750A>C (p.Asn2584His)
c.7696A>C (p.Asn2566His)
c.7666A>C (p.Asn2556His)
c.7621A>C (p.Asn2541His)
c.7216A>C (p.Asn2406His)
c.6574A>C (p.Asn2192His)
c.4084A>C (p.Asn1362His)
10g.71802976A>GCA377160616CDH23c.7561A>G (p.Asn2521Asp)
c.1494A>G (n.1494A>G)
c.1158A>G (n.1158A>G)
c.7576A>G (p.Asn2526Asp)
c.841A>G (p.Asn281Asp)
n.1097A>G
c.7756A>G (p.Asn2586Asp)
c.7690A>G (p.Asn2564Asp)
c.7753A>G (p.Asn2585Asp)
c.7750A>G (p.Asn2584Asp)
c.7696A>G (p.Asn2566Asp)
c.7666A>G (p.Asn2556Asp)
c.7621A>G (p.Asn2541Asp)
c.7216A>G (p.Asn2406Asp)
c.6574A>G (p.Asn2192Asp)
c.4084A>G (p.Asn1362Asp)
10g.71802976A>TCA377160614CDH23c.7561A>T (p.Asn2521Tyr)
c.1494A>T (n.1494A>T)
c.1158A>T (n.1158A>T)
c.7576A>T (p.Asn2526Tyr)
c.841A>T (p.Asn281Tyr)
n.1097A>T
c.7756A>T (p.Asn2586Tyr)
c.7690A>T (p.Asn2564Tyr)
c.7753A>T (p.Asn2585Tyr)
c.7750A>T (p.Asn2584Tyr)
c.7696A>T (p.Asn2566Tyr)
c.7666A>T (p.Asn2556Tyr)
c.7621A>T (p.Asn2541Tyr)
c.7216A>T (p.Asn2406Tyr)
c.6574A>T (p.Asn2192Tyr)
c.4084A>T (p.Asn1362Tyr)

Number of alleles fetched