Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71695385delCA2609545021CDH23c.2290-33del (n.2290-33del)
c.1721-33del
c.2305-33del (n.2305-33del)
c.1065-33del
c.2485-33del (n.2485-33del)
c.2419-33del (n.2419-33del)
c.2479-33del (n.2479-33del)
c.2425-33del (n.2425-33del)
c.2350-33del (n.2350-33del)
c.1945-33del (n.1945-33del)
c.1303-33del (n.1303-33del)
n.2728-33del
 gnomAD v4
10g.71695384G>ACA668138850CDH23c.2290-34G>A (n.2290-34G>A)
c.1721-34G>A
c.2305-34G>A (n.2305-34G>A)
c.1065-34G>A
c.2485-34G>A (n.2485-34G>A)
c.2419-34G>A (n.2419-34G>A)
c.2479-34G>A (n.2479-34G>A)
c.2425-34G>A (n.2425-34G>A)
c.2350-34G>A (n.2350-34G>A)
c.1945-34G>A (n.1945-34G>A)
c.1303-34G>A (n.1303-34G>A)
n.2728-34G>A
 dbSNP gnomAD v4
10g.71695384G=CA1918830467CDH23c.2290-34G= (n.2290-34G=)
c.1721-34G=
c.2305-34G= (n.2305-34G=)
c.1065-34G=
c.2485-34G= (n.2485-34G=)
c.2419-34G= (n.2419-34G=)
c.2479-34G= (n.2479-34G=)
c.2425-34G= (n.2425-34G=)
c.2350-34G= (n.2350-34G=)
c.1945-34G= (n.1945-34G=)
c.1303-34G= (n.1303-34G=)
n.2728-34G=
10g.71695385G>ACA594316737CDH23c.2290-33G>A (n.2290-33G>A)
c.1721-33G>A
c.2305-33G>A (n.2305-33G>A)
c.1065-33G>A
c.2485-33G>A (n.2485-33G>A)
c.2419-33G>A (n.2419-33G>A)
c.2479-33G>A (n.2479-33G>A)
c.2425-33G>A (n.2425-33G>A)
c.2350-33G>A (n.2350-33G>A)
c.1945-33G>A (n.1945-33G>A)
c.1303-33G>A (n.1303-33G>A)
n.2728-33G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71695385G=CA1918830468CDH23c.2290-33G= (n.2290-33G=)
c.1721-33G=
c.2305-33G= (n.2305-33G=)
c.1065-33G=
c.2485-33G= (n.2485-33G=)
c.2419-33G= (n.2419-33G=)
c.2479-33G= (n.2479-33G=)
c.2425-33G= (n.2425-33G=)
c.2350-33G= (n.2350-33G=)
c.1945-33G= (n.1945-33G=)
c.1303-33G= (n.1303-33G=)
n.2728-33G=
10g.71695385G>TCA1918830469CDH23c.2290-33G>T (n.2290-33G>T)
c.1721-33G>T
c.2305-33G>T (n.2305-33G>T)
c.1065-33G>T
c.2485-33G>T (n.2485-33G>T)
c.2419-33G>T (n.2419-33G>T)
c.2479-33G>T (n.2479-33G>T)
c.2425-33G>T (n.2425-33G>T)
c.2350-33G>T (n.2350-33G>T)
c.1945-33G>T (n.1945-33G>T)
c.1303-33G>T (n.1303-33G>T)
n.2728-33G>T
 dbSNP
10g.71695386T>CCA5544170CDH23c.2290-32T>C (n.2290-32T>C)
c.1721-32T>C
c.2305-32T>C (n.2305-32T>C)
c.1065-32T>C
c.2485-32T>C (n.2485-32T>C)
c.2419-32T>C (n.2419-32T>C)
c.2479-32T>C (n.2479-32T>C)
c.2425-32T>C (n.2425-32T>C)
c.2350-32T>C (n.2350-32T>C)
c.1945-32T>C (n.1945-32T>C)
c.1303-32T>C (n.1303-32T>C)
n.2728-32T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695386T=CA1918830470CDH23c.2290-32T= (n.2290-32T=)
c.1721-32T=
c.2305-32T= (n.2305-32T=)
c.1065-32T=
c.2485-32T= (n.2485-32T=)
c.2419-32T= (n.2419-32T=)
c.2479-32T= (n.2479-32T=)
c.2425-32T= (n.2425-32T=)
c.2350-32T= (n.2350-32T=)
c.1945-32T= (n.1945-32T=)
c.1303-32T= (n.1303-32T=)
n.2728-32T=
10g.71695388T>CCA2609545023CDH23c.2290-30T>C (n.2290-30T>C)
c.1721-30T>C
c.2305-30T>C (n.2305-30T>C)
c.1065-30T>C
c.2485-30T>C (n.2485-30T>C)
c.2419-30T>C (n.2419-30T>C)
c.2479-30T>C (n.2479-30T>C)
c.2425-30T>C (n.2425-30T>C)
c.2350-30T>C (n.2350-30T>C)
c.1945-30T>C (n.1945-30T>C)
c.1303-30T>C (n.1303-30T>C)
n.2728-30T>C
 dbSNP gnomAD v4
10g.71695389G>ACA2574574700CDH23c.2290-29G>A (n.2290-29G>A)
c.1721-29G>A
c.2305-29G>A (n.2305-29G>A)
c.1065-29G>A
c.2485-29G>A (n.2485-29G>A)
c.2419-29G>A (n.2419-29G>A)
c.2479-29G>A (n.2479-29G>A)
c.2425-29G>A (n.2425-29G>A)
c.2350-29G>A (n.2350-29G>A)
c.1945-29G>A (n.1945-29G>A)
c.1303-29G>A (n.1303-29G>A)
n.2728-29G>A
10g.71695390T>CCA594316739CDH23c.2290-28T>C (n.2290-28T>C)
c.1721-28T>C
c.2305-28T>C (n.2305-28T>C)
c.1065-28T>C
c.2485-28T>C (n.2485-28T>C)
c.2419-28T>C (n.2419-28T>C)
c.2479-28T>C (n.2479-28T>C)
c.2425-28T>C (n.2425-28T>C)
c.2350-28T>C (n.2350-28T>C)
c.1945-28T>C (n.1945-28T>C)
c.1303-28T>C (n.1303-28T>C)
n.2728-28T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71695390T=CA1918830471CDH23c.2290-28T= (n.2290-28T=)
c.1721-28T=
c.2305-28T= (n.2305-28T=)
c.1065-28T=
c.2485-28T= (n.2485-28T=)
c.2419-28T= (n.2419-28T=)
c.2479-28T= (n.2479-28T=)
c.2425-28T= (n.2425-28T=)
c.2350-28T= (n.2350-28T=)
c.1945-28T= (n.1945-28T=)
c.1303-28T= (n.1303-28T=)
n.2728-28T=
10g.71695396_71695403delCA2788463275CDH23c.2290-22_2290-15del (n.2290-22_2290-15del)
c.1721-22_1721-15del
c.2305-22_2305-15del (n.2305-22_2305-15del)
c.1065-22_1065-15del
c.2485-22_2485-15del (n.2485-22_2485-15del)
c.2419-22_2419-15del (n.2419-22_2419-15del)
c.2479-22_2479-15del (n.2479-22_2479-15del)
c.2425-22_2425-15del (n.2425-22_2425-15del)
c.2350-22_2350-15del (n.2350-22_2350-15del)
c.1945-22_1945-15del (n.1945-22_1945-15del)
c.1303-22_1303-15del (n.1303-22_1303-15del)
n.2728-22_2728-15del
10g.71695395C>ACA2574574701CDH23c.2290-23C>A (n.2290-23C>A)
c.1721-23C>A
c.2305-23C>A (n.2305-23C>A)
c.1065-23C>A
c.2485-23C>A (n.2485-23C>A)
c.2419-23C>A (n.2419-23C>A)
c.2479-23C>A (n.2479-23C>A)
c.2425-23C>A (n.2425-23C>A)
c.2350-23C>A (n.2350-23C>A)
c.1945-23C>A (n.1945-23C>A)
c.1303-23C>A (n.1303-23C>A)
n.2728-23C>A
10g.71695396A=CA1918830472CDH23c.2290-22A= (n.2290-22A=)
c.1721-22A=
c.2305-22A= (n.2305-22A=)
c.1065-22A=
c.2485-22A= (n.2485-22A=)
c.2419-22A= (n.2419-22A=)
c.2479-22A= (n.2479-22A=)
c.2425-22A= (n.2425-22A=)
c.2350-22A= (n.2350-22A=)
c.1945-22A= (n.1945-22A=)
c.1303-22A= (n.1303-22A=)
n.2728-22A=
10g.71695396A>GCA594316742CDH23c.2290-22A>G (n.2290-22A>G)
c.1721-22A>G
c.2305-22A>G (n.2305-22A>G)
c.1065-22A>G
c.2485-22A>G (n.2485-22A>G)
c.2419-22A>G (n.2419-22A>G)
c.2479-22A>G (n.2479-22A>G)
c.2425-22A>G (n.2425-22A>G)
c.2350-22A>G (n.2350-22A>G)
c.1945-22A>G (n.1945-22A>G)
c.1303-22A>G (n.1303-22A>G)
n.2728-22A>G
 dbSNP gnomAD v2 gnomAD v4
10g.71695398C>ACA2574574702CDH23c.2290-20C>A (n.2290-20C>A)
c.1721-20C>A
c.2305-20C>A (n.2305-20C>A)
c.1065-20C>A
c.2485-20C>A (n.2485-20C>A)
c.2419-20C>A (n.2419-20C>A)
c.2479-20C>A (n.2479-20C>A)
c.2425-20C>A (n.2425-20C>A)
c.2350-20C>A (n.2350-20C>A)
c.1945-20C>A (n.1945-20C>A)
c.1303-20C>A (n.1303-20C>A)
n.2728-20C>A
 ClinVar gnomAD v4
10g.71695398C=CA1918830473CDH23c.2290-20C= (n.2290-20C=)
c.1721-20C=
c.2305-20C= (n.2305-20C=)
c.1065-20C=
c.2485-20C= (n.2485-20C=)
c.2419-20C= (n.2419-20C=)
c.2479-20C= (n.2479-20C=)
c.2425-20C= (n.2425-20C=)
c.2350-20C= (n.2350-20C=)
c.1945-20C= (n.1945-20C=)
c.1303-20C= (n.1303-20C=)
n.2728-20C=
10g.71695398C>TCA5544171CDH23c.2290-20C>T (n.2290-20C>T)
c.1721-20C>T
c.2305-20C>T (n.2305-20C>T)
c.1065-20C>T
c.2485-20C>T (n.2485-20C>T)
c.2419-20C>T (n.2419-20C>T)
c.2479-20C>T (n.2479-20C>T)
c.2425-20C>T (n.2425-20C>T)
c.2350-20C>T (n.2350-20C>T)
c.1945-20C>T (n.1945-20C>T)
c.1303-20C>T (n.1303-20C>T)
n.2728-20C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695399G>ACA5544172CDH23c.2290-19G>A (n.2290-19G>A)
c.1721-19G>A
c.2305-19G>A (n.2305-19G>A)
c.1065-19G>A
c.2485-19G>A (n.2485-19G>A)
c.2419-19G>A (n.2419-19G>A)
c.2479-19G>A (n.2479-19G>A)
c.2425-19G>A (n.2425-19G>A)
c.2350-19G>A (n.2350-19G>A)
c.1945-19G>A (n.1945-19G>A)
c.1303-19G>A (n.1303-19G>A)
n.2728-19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695399G>CCA2788463276CDH23c.2290-19G>C (n.2290-19G>C)
c.1721-19G>C
c.2305-19G>C (n.2305-19G>C)
c.1065-19G>C
c.2485-19G>C (n.2485-19G>C)
c.2419-19G>C (n.2419-19G>C)
c.2479-19G>C (n.2479-19G>C)
c.2425-19G>C (n.2425-19G>C)
c.2350-19G>C (n.2350-19G>C)
c.1945-19G>C (n.1945-19G>C)
c.1303-19G>C (n.1303-19G>C)
n.2728-19G>C
10g.71695399G=CA1918830476CDH23c.2290-19G= (n.2290-19G=)
c.1721-19G=
c.2305-19G= (n.2305-19G=)
c.1065-19G=
c.2485-19G= (n.2485-19G=)
c.2419-19G= (n.2419-19G=)
c.2479-19G= (n.2479-19G=)
c.2425-19G= (n.2425-19G=)
c.2350-19G= (n.2350-19G=)
c.1945-19G= (n.1945-19G=)
c.1303-19G= (n.1303-19G=)
n.2728-19G=
10g.71695399G>TCA1918830475CDH23c.2290-19G>T (n.2290-19G>T)
c.1721-19G>T
c.2305-19G>T (n.2305-19G>T)
c.1065-19G>T
c.2485-19G>T (n.2485-19G>T)
c.2419-19G>T (n.2419-19G>T)
c.2479-19G>T (n.2479-19G>T)
c.2425-19G>T (n.2425-19G>T)
c.2350-19G>T (n.2350-19G>T)
c.1945-19G>T (n.1945-19G>T)
c.1303-19G>T (n.1303-19G>T)
n.2728-19G>T
 dbSNP
10g.71695399_71695400delinsGCCA1918830474CDH23c.2290-19_2290-18delinsGC (n.2290-19_2290-18delinsGC)
c.1721-19_1721-18delinsGC
c.2305-19_2305-18delinsGC (n.2305-19_2305-18delinsGC)
c.1065-19_1065-18delinsGC
c.2485-19_2485-18delinsGC (n.2485-19_2485-18delinsGC)
c.2419-19_2419-18delinsGC (n.2419-19_2419-18delinsGC)
c.2479-19_2479-18delinsGC (n.2479-19_2479-18delinsGC)
c.2425-19_2425-18delinsGC (n.2425-19_2425-18delinsGC)
c.2350-19_2350-18delinsGC (n.2350-19_2350-18delinsGC)
c.1945-19_1945-18delinsGC (n.1945-19_1945-18delinsGC)
c.1303-19_1303-18delinsGC (n.1303-19_1303-18delinsGC)
n.2728-19_2728-18delinsGC
10g.71695403delCA1918830477CDH23c.2290-15del (n.2290-15del)
c.1721-15del
c.2305-15del (n.2305-15del)
c.1065-15del
c.2485-15del (n.2485-15del)
c.2419-15del (n.2419-15del)
c.2479-15del (n.2479-15del)
c.2425-15del (n.2425-15del)
c.2350-15del (n.2350-15del)
c.1945-15del (n.1945-15del)
c.1303-15del (n.1303-15del)
n.2728-15del
 dbSNP
10g.71695401C>TCA2573145435CDH23c.2290-17C>T (n.2290-17C>T)
c.1721-17C>T
c.2305-17C>T (n.2305-17C>T)
c.1065-17C>T
c.2485-17C>T (n.2485-17C>T)
c.2419-17C>T (n.2419-17C>T)
c.2479-17C>T (n.2479-17C>T)
c.2425-17C>T (n.2425-17C>T)
c.2350-17C>T (n.2350-17C>T)
c.1945-17C>T (n.1945-17C>T)
c.1303-17C>T (n.1303-17C>T)
n.2728-17C>T
 ClinVar dbSNP
10g.71695402C>ACA377136106CDH23c.2290-16C>A (n.2290-16C>A)
c.1721-16C>A
c.2305-16C>A (n.2305-16C>A)
c.1065-16C>A
c.2485-16C>A (n.2485-16C>A)
c.2419-16C>A (n.2419-16C>A)
c.2479-16C>A (n.2479-16C>A)
c.2425-16C>A (n.2425-16C>A)
c.2350-16C>A (n.2350-16C>A)
c.1945-16C>A (n.1945-16C>A)
c.1303-16C>A (n.1303-16C>A)
n.2728-16C>A
 dbSNP
10g.71695402C=CA1918830478CDH23c.2290-16C= (n.2290-16C=)
c.1721-16C=
c.2305-16C= (n.2305-16C=)
c.1065-16C=
c.2485-16C= (n.2485-16C=)
c.2419-16C= (n.2419-16C=)
c.2479-16C= (n.2479-16C=)
c.2425-16C= (n.2425-16C=)
c.2350-16C= (n.2350-16C=)
c.1945-16C= (n.1945-16C=)
c.1303-16C= (n.1303-16C=)
n.2728-16C=
10g.71695402C>GCA668138855CDH23c.2290-16C>G (n.2290-16C>G)
c.1721-16C>G
c.2305-16C>G (n.2305-16C>G)
c.1065-16C>G
c.2485-16C>G (n.2485-16C>G)
c.2419-16C>G (n.2419-16C>G)
c.2479-16C>G (n.2479-16C>G)
c.2425-16C>G (n.2425-16C>G)
c.2350-16C>G (n.2350-16C>G)
c.1945-16C>G (n.1945-16C>G)
c.1303-16C>G (n.1303-16C>G)
n.2728-16C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71695402C>TCA2574574703CDH23c.2290-16C>T (n.2290-16C>T)
c.1721-16C>T
c.2305-16C>T (n.2305-16C>T)
c.1065-16C>T
c.2485-16C>T (n.2485-16C>T)
c.2419-16C>T (n.2419-16C>T)
c.2479-16C>T (n.2479-16C>T)
c.2425-16C>T (n.2425-16C>T)
c.2350-16C>T (n.2350-16C>T)
c.1945-16C>T (n.1945-16C>T)
c.1303-16C>T (n.1303-16C>T)
n.2728-16C>T
 ClinVar
10g.71695403_71695404delinsCTCA1918830479CDH23c.2290-15_2290-14delinsCT (n.2290-15_2290-14delinsCT)
c.1721-15_1721-14delinsCT
c.2305-15_2305-14delinsCT (n.2305-15_2305-14delinsCT)
c.1065-15_1065-14delinsCT
c.2485-15_2485-14delinsCT (n.2485-15_2485-14delinsCT)
c.2419-15_2419-14delinsCT (n.2419-15_2419-14delinsCT)
c.2479-15_2479-14delinsCT (n.2479-15_2479-14delinsCT)
c.2425-15_2425-14delinsCT (n.2425-15_2425-14delinsCT)
c.2350-15_2350-14delinsCT (n.2350-15_2350-14delinsCT)
c.1945-15_1945-14delinsCT (n.1945-15_1945-14delinsCT)
c.1303-15_1303-14delinsCT (n.1303-15_1303-14delinsCT)
n.2728-15_2728-14delinsCT
10g.71695404T>CCA1918830481CDH23c.2290-14T>C (n.2290-14T>C)
c.1721-14T>C
c.2305-14T>C (n.2305-14T>C)
c.1065-14T>C
c.2485-14T>C (n.2485-14T>C)
c.2419-14T>C (n.2419-14T>C)
c.2479-14T>C (n.2479-14T>C)
c.2425-14T>C (n.2425-14T>C)
c.2350-14T>C (n.2350-14T>C)
c.1945-14T>C (n.1945-14T>C)
c.1303-14T>C (n.1303-14T>C)
n.2728-14T>C
 dbSNP
10g.71695404T=CA1918830480CDH23c.2290-14T= (n.2290-14T=)
c.1721-14T=
c.2305-14T= (n.2305-14T=)
c.1065-14T=
c.2485-14T= (n.2485-14T=)
c.2419-14T= (n.2419-14T=)
c.2479-14T= (n.2479-14T=)
c.2425-14T= (n.2425-14T=)
c.2350-14T= (n.2350-14T=)
c.1945-14T= (n.1945-14T=)
c.1303-14T= (n.1303-14T=)
n.2728-14T=
10g.71695405delCA137319CDH23c.2290-13del (n.2290-13del)
c.1721-13del
c.2305-13del (n.2305-13del)
c.1065-13del
c.2485-13del (n.2485-13del)
c.2419-13del (n.2419-13del)
c.2479-13del (n.2479-13del)
c.2425-13del (n.2425-13del)
c.2350-13del (n.2350-13del)
c.1945-13del (n.1945-13del)
c.1303-13del (n.1303-13del)
n.2728-13del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695405T>CCA2609545024CDH23c.2290-13T>C (n.2290-13T>C)
c.1721-13T>C
c.2305-13T>C (n.2305-13T>C)
c.1065-13T>C
c.2485-13T>C (n.2485-13T>C)
c.2419-13T>C (n.2419-13T>C)
c.2479-13T>C (n.2479-13T>C)
c.2425-13T>C (n.2425-13T>C)
c.2350-13T>C (n.2350-13T>C)
c.1945-13T>C (n.1945-13T>C)
c.1303-13T>C (n.1303-13T>C)
n.2728-13T>C
 gnomAD v4
10g.71695407T>CCA594316755CDH23c.2290-11T>C (n.2290-11T>C)
c.1721-11T>C
c.2305-11T>C (n.2305-11T>C)
c.1065-11T>C
c.2485-11T>C (n.2485-11T>C)
c.2419-11T>C (n.2419-11T>C)
c.2479-11T>C (n.2479-11T>C)
c.2425-11T>C (n.2425-11T>C)
c.2350-11T>C (n.2350-11T>C)
c.1945-11T>C (n.1945-11T>C)
c.1303-11T>C (n.1303-11T>C)
n.2728-11T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71695407T=CA1918830482CDH23c.2290-11T= (n.2290-11T=)
c.1721-11T=
c.2305-11T= (n.2305-11T=)
c.1065-11T=
c.2485-11T= (n.2485-11T=)
c.2419-11T= (n.2419-11T=)
c.2479-11T= (n.2479-11T=)
c.2425-11T= (n.2425-11T=)
c.2350-11T= (n.2350-11T=)
c.1945-11T= (n.1945-11T=)
c.1303-11T= (n.1303-11T=)
n.2728-11T=
10g.71695408G>ACA2609545026CDH23c.2290-10G>A (n.2290-10G>A)
c.1721-10G>A
c.2305-10G>A (n.2305-10G>A)
c.1065-10G>A
c.2485-10G>A (n.2485-10G>A)
c.2419-10G>A (n.2419-10G>A)
c.2479-10G>A (n.2479-10G>A)
c.2425-10G>A (n.2425-10G>A)
c.2350-10G>A (n.2350-10G>A)
c.1945-10G>A (n.1945-10G>A)
c.1303-10G>A (n.1303-10G>A)
n.2728-10G>A
 gnomAD v4
10g.71695409delCA2609545025CDH23c.2290-9del (n.2290-9del)
c.1721-9del
c.2305-9del (n.2305-9del)
c.1065-9del
c.2485-9del (n.2485-9del)
c.2419-9del (n.2419-9del)
c.2479-9del (n.2479-9del)
c.2425-9del (n.2425-9del)
c.2350-9del (n.2350-9del)
c.1945-9del (n.1945-9del)
c.1303-9del (n.1303-9del)
n.2728-9del
 gnomAD v4
10g.71695409G>ACA594316758CDH23c.2290-9G>A (n.2290-9G>A)
c.1721-9G>A
c.2305-9G>A (n.2305-9G>A)
c.1065-9G>A
c.2485-9G>A (n.2485-9G>A)
c.2419-9G>A (n.2419-9G>A)
c.2479-9G>A (n.2479-9G>A)
c.2425-9G>A (n.2425-9G>A)
c.2350-9G>A (n.2350-9G>A)
c.1945-9G>A (n.1945-9G>A)
c.1303-9G>A (n.1303-9G>A)
n.2728-9G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71695409G=CA1918830483CDH23c.2290-9G= (n.2290-9G=)
c.1721-9G=
c.2305-9G= (n.2305-9G=)
c.1065-9G=
c.2485-9G= (n.2485-9G=)
c.2419-9G= (n.2419-9G=)
c.2479-9G= (n.2479-9G=)
c.2425-9G= (n.2425-9G=)
c.2350-9G= (n.2350-9G=)
c.1945-9G= (n.1945-9G=)
c.1303-9G= (n.1303-9G=)
n.2728-9G=
10g.71695409G>TCA2609545027CDH23c.2290-9G>T (n.2290-9G>T)
c.1721-9G>T
c.2305-9G>T (n.2305-9G>T)
c.1065-9G>T
c.2485-9G>T (n.2485-9G>T)
c.2419-9G>T (n.2419-9G>T)
c.2479-9G>T (n.2479-9G>T)
c.2425-9G>T (n.2425-9G>T)
c.2350-9G>T (n.2350-9G>T)
c.1945-9G>T (n.1945-9G>T)
c.1303-9G>T (n.1303-9G>T)
n.2728-9G>T
 gnomAD v4
10g.71695410C>ACA2609545028CDH23c.2290-8C>A (n.2290-8C>A)
c.1721-8C>A
c.2305-8C>A (n.2305-8C>A)
c.1065-8C>A
c.2485-8C>A (n.2485-8C>A)
c.2419-8C>A (n.2419-8C>A)
c.2479-8C>A (n.2479-8C>A)
c.2425-8C>A (n.2425-8C>A)
c.2350-8C>A (n.2350-8C>A)
c.1945-8C>A (n.1945-8C>A)
c.1303-8C>A (n.1303-8C>A)
n.2728-8C>A
 gnomAD v4
10g.71695410C=CA1918830484CDH23c.2290-8C= (n.2290-8C=)
c.1721-8C=
c.2305-8C= (n.2305-8C=)
c.1065-8C=
c.2485-8C= (n.2485-8C=)
c.2419-8C= (n.2419-8C=)
c.2479-8C= (n.2479-8C=)
c.2425-8C= (n.2425-8C=)
c.2350-8C= (n.2350-8C=)
c.1945-8C= (n.1945-8C=)
c.1303-8C= (n.1303-8C=)
n.2728-8C=
10g.71695410C>TCA209446207CDH23c.2290-8C>T (n.2290-8C>T)
c.1721-8C>T
c.2305-8C>T (n.2305-8C>T)
c.1065-8C>T
c.2485-8C>T (n.2485-8C>T)
c.2419-8C>T (n.2419-8C>T)
c.2479-8C>T (n.2479-8C>T)
c.2425-8C>T (n.2425-8C>T)
c.2350-8C>T (n.2350-8C>T)
c.1945-8C>T (n.1945-8C>T)
c.1303-8C>T (n.1303-8C>T)
n.2728-8C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71695412T>CCA209446224CDH23c.2290-6T>C (n.2290-6T>C)
c.1721-6T>C
c.2305-6T>C (n.2305-6T>C)
c.1065-6T>C
c.2485-6T>C (n.2485-6T>C)
c.2419-6T>C (n.2419-6T>C)
c.2479-6T>C (n.2479-6T>C)
c.2425-6T>C (n.2425-6T>C)
c.2350-6T>C (n.2350-6T>C)
c.1945-6T>C (n.1945-6T>C)
c.1303-6T>C (n.1303-6T>C)
n.2728-6T>C
 ClinVar dbSNP
10g.71695412T>GCA5544173CDH23c.2290-6T>G (n.2290-6T>G)
c.1721-6T>G
c.2305-6T>G (n.2305-6T>G)
c.1065-6T>G
c.2485-6T>G (n.2485-6T>G)
c.2419-6T>G (n.2419-6T>G)
c.2479-6T>G (n.2479-6T>G)
c.2425-6T>G (n.2425-6T>G)
c.2350-6T>G (n.2350-6T>G)
c.1945-6T>G (n.1945-6T>G)
c.1303-6T>G (n.1303-6T>G)
n.2728-6T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695412T=CA1918830485CDH23c.2290-6T= (n.2290-6T=)
c.1721-6T=
c.2305-6T= (n.2305-6T=)
c.1065-6T=
c.2485-6T= (n.2485-6T=)
c.2419-6T= (n.2419-6T=)
c.2479-6T= (n.2479-6T=)
c.2425-6T= (n.2425-6T=)
c.2350-6T= (n.2350-6T=)
c.1945-6T= (n.1945-6T=)
c.1303-6T= (n.1303-6T=)
n.2728-6T=
10g.71695413C>ACA2609545030CDH23c.2290-5C>A (n.2290-5C>A)
c.1721-5C>A
c.2305-5C>A (n.2305-5C>A)
c.1065-5C>A
c.2485-5C>A (n.2485-5C>A)
c.2419-5C>A (n.2419-5C>A)
c.2479-5C>A (n.2479-5C>A)
c.2425-5C>A (n.2425-5C>A)
c.2350-5C>A (n.2350-5C>A)
c.1945-5C>A (n.1945-5C>A)
c.1303-5C>A (n.1303-5C>A)
n.2728-5C>A
 gnomAD v4
10g.71695413C=CA1918830486CDH23c.2290-5C= (n.2290-5C=)
c.1721-5C=
c.2305-5C= (n.2305-5C=)
c.1065-5C=
c.2485-5C= (n.2485-5C=)
c.2419-5C= (n.2419-5C=)
c.2479-5C= (n.2479-5C=)
c.2425-5C= (n.2425-5C=)
c.2350-5C= (n.2350-5C=)
c.1945-5C= (n.1945-5C=)
c.1303-5C= (n.1303-5C=)
n.2728-5C=
10g.71695413C>TCA5544174CDH23c.2290-5C>T (n.2290-5C>T)
c.1721-5C>T
c.2305-5C>T (n.2305-5C>T)
c.1065-5C>T
c.2485-5C>T (n.2485-5C>T)
c.2419-5C>T (n.2419-5C>T)
c.2479-5C>T (n.2479-5C>T)
c.2425-5C>T (n.2425-5C>T)
c.2350-5C>T (n.2350-5C>T)
c.1945-5C>T (n.1945-5C>T)
c.1303-5C>T (n.1303-5C>T)
n.2728-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695415_71695416delCA2609545031CDH23c.2290-3_2290-2del (n.2290-3_2290-2del)
c.1721-3_1721-2del
c.2305-3_2305-2del (n.2305-3_2305-2del)
c.1065-3_1065-2del
c.2485-3_2485-2del (n.2485-3_2485-2del)
c.2419-3_2419-2del (n.2419-3_2419-2del)
c.2479-3_2479-2del (n.2479-3_2479-2del)
c.2425-3_2425-2del (n.2425-3_2425-2del)
c.2350-3_2350-2del (n.2350-3_2350-2del)
c.1945-3_1945-2del (n.1945-3_1945-2del)
c.1303-3_1303-2del (n.1303-3_1303-2del)
n.2728-3_2728-2del
 gnomAD v4
10g.71695414A=CA1918830487CDH23c.2290-4A= (n.2290-4A=)
c.1721-4A=
c.2305-4A= (n.2305-4A=)
c.1065-4A=
c.2485-4A= (n.2485-4A=)
c.2419-4A= (n.2419-4A=)
c.2479-4A= (n.2479-4A=)
c.2425-4A= (n.2425-4A=)
c.2350-4A= (n.2350-4A=)
c.1945-4A= (n.1945-4A=)
c.1303-4A= (n.1303-4A=)
n.2728-4A=
10g.71695414A>GCA594316766CDH23c.2290-4A>G (n.2290-4A>G)
c.1721-4A>G
c.2305-4A>G (n.2305-4A>G)
c.1065-4A>G
c.2485-4A>G (n.2485-4A>G)
c.2419-4A>G (n.2419-4A>G)
c.2479-4A>G (n.2479-4A>G)
c.2425-4A>G (n.2425-4A>G)
c.2350-4A>G (n.2350-4A>G)
c.1945-4A>G (n.1945-4A>G)
c.1303-4A>G (n.1303-4A>G)
n.2728-4A>G
 dbSNP gnomAD v2 gnomAD v4
10g.71695415C>ACA2609545032CDH23c.2290-3C>A (n.2290-3C>A)
c.1721-3C>A
c.2305-3C>A (n.2305-3C>A)
c.1065-3C>A
c.2485-3C>A (n.2485-3C>A)
c.2419-3C>A (n.2419-3C>A)
c.2479-3C>A (n.2479-3C>A)
c.2425-3C>A (n.2425-3C>A)
c.2350-3C>A (n.2350-3C>A)
c.1945-3C>A (n.1945-3C>A)
c.1303-3C>A (n.1303-3C>A)
n.2728-3C>A
 gnomAD v4
10g.71695415C=CA1918830488CDH23c.2290-3C= (n.2290-3C=)
c.1721-3C=
c.2305-3C= (n.2305-3C=)
c.1065-3C=
c.2485-3C= (n.2485-3C=)
c.2419-3C= (n.2419-3C=)
c.2479-3C= (n.2479-3C=)
c.2425-3C= (n.2425-3C=)
c.2350-3C= (n.2350-3C=)
c.1945-3C= (n.1945-3C=)
c.1303-3C= (n.1303-3C=)
n.2728-3C=
10g.71695415C>GCA1918830489CDH23c.2290-3C>G (n.2290-3C>G)
c.1721-3C>G
c.2305-3C>G (n.2305-3C>G)
c.1065-3C>G
c.2485-3C>G (n.2485-3C>G)
c.2419-3C>G (n.2419-3C>G)
c.2479-3C>G (n.2479-3C>G)
c.2425-3C>G (n.2425-3C>G)
c.2350-3C>G (n.2350-3C>G)
c.1945-3C>G (n.1945-3C>G)
c.1303-3C>G (n.1303-3C>G)
n.2728-3C>G
 dbSNP
10g.71695415C>TCA5544175CDH23c.2290-3C>T (n.2290-3C>T)
c.1721-3C>T
c.2305-3C>T (n.2305-3C>T)
c.1065-3C>T
c.2485-3C>T (n.2485-3C>T)
c.2419-3C>T (n.2419-3C>T)
c.2479-3C>T (n.2479-3C>T)
c.2425-3C>T (n.2425-3C>T)
c.2350-3C>T (n.2350-3C>T)
c.1945-3C>T (n.1945-3C>T)
c.1303-3C>T (n.1303-3C>T)
n.2728-3C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695416A>CCA377136118CDH23c.2290-2A>C (n.2290-2A>C)
c.1721-2A>C
c.2305-2A>C (n.2305-2A>C)
c.1065-2A>C
c.2485-2A>C (n.2485-2A>C)
c.2419-2A>C (n.2419-2A>C)
c.2479-2A>C (n.2479-2A>C)
c.2425-2A>C (n.2425-2A>C)
c.2350-2A>C (n.2350-2A>C)
c.1945-2A>C (n.1945-2A>C)
c.1303-2A>C (n.1303-2A>C)
n.2728-2A>C
10g.71695416A>GCA377136120CDH23c.2290-2A>G (n.2290-2A>G)
c.1721-2A>G
c.2305-2A>G (n.2305-2A>G)
c.1065-2A>G
c.2485-2A>G (n.2485-2A>G)
c.2419-2A>G (n.2419-2A>G)
c.2479-2A>G (n.2479-2A>G)
c.2425-2A>G (n.2425-2A>G)
c.2350-2A>G (n.2350-2A>G)
c.1945-2A>G (n.1945-2A>G)
c.1303-2A>G (n.1303-2A>G)
n.2728-2A>G
10g.71695416A>TCA377136122CDH23c.2290-2A>T (n.2290-2A>T)
c.1721-2A>T
c.2305-2A>T (n.2305-2A>T)
c.1065-2A>T
c.2485-2A>T (n.2485-2A>T)
c.2419-2A>T (n.2419-2A>T)
c.2479-2A>T (n.2479-2A>T)
c.2425-2A>T (n.2425-2A>T)
c.2350-2A>T (n.2350-2A>T)
c.1945-2A>T (n.1945-2A>T)
c.1303-2A>T (n.1303-2A>T)
n.2728-2A>T
10g.71695417G>ACA377136125CDH23c.2290-1G>A (n.2290-1G>A)
c.1721-1G>A
c.2305-1G>A (n.2305-1G>A)
c.1065-1G>A
c.2485-1G>A (n.2485-1G>A)
c.2419-1G>A (n.2419-1G>A)
c.2479-1G>A (n.2479-1G>A)
c.2425-1G>A (n.2425-1G>A)
c.2350-1G>A (n.2350-1G>A)
c.1945-1G>A (n.1945-1G>A)
c.1303-1G>A (n.1303-1G>A)
n.2728-1G>A
 ClinVar
10g.71695417G>CCA377136126CDH23c.2290-1G>C (n.2290-1G>C)
c.1721-1G>C
c.2305-1G>C (n.2305-1G>C)
c.1065-1G>C
c.2485-1G>C (n.2485-1G>C)
c.2419-1G>C (n.2419-1G>C)
c.2479-1G>C (n.2479-1G>C)
c.2425-1G>C (n.2425-1G>C)
c.2350-1G>C (n.2350-1G>C)
c.1945-1G>C (n.1945-1G>C)
c.1303-1G>C (n.1303-1G>C)
n.2728-1G>C
10g.71695417G>TCA377136127CDH23c.2290-1G>T (n.2290-1G>T)
c.1721-1G>T
c.2305-1G>T (n.2305-1G>T)
c.1065-1G>T
c.2485-1G>T (n.2485-1G>T)
c.2419-1G>T (n.2419-1G>T)
c.2479-1G>T (n.2479-1G>T)
c.2425-1G>T (n.2425-1G>T)
c.2350-1G>T (n.2350-1G>T)
c.1945-1G>T (n.1945-1G>T)
c.1303-1G>T (n.1303-1G>T)
n.2728-1G>T
10g.71695418G>ACA377136130CDH23c.2290G>A (p.Val764Ile)
c.1721G>A
c.2305G>A (p.Val769Ile)
c.1065G>A
c.2485G>A (p.Val829Ile)
c.2419G>A (p.Val807Ile)
c.2479G>A (p.Val827Ile)
c.2425G>A (p.Val809Ile)
c.2350G>A (p.Val784Ile)
c.1945G>A (p.Val649Ile)
c.1303G>A (p.Val435Ile)
n.2728G>A
10g.71695418G>CCA377136134CDH23c.2290G>C (p.Val764Leu)
c.1721G>C
c.2305G>C (p.Val769Leu)
c.1065G>C
c.2485G>C (p.Val829Leu)
c.2419G>C (p.Val807Leu)
c.2479G>C (p.Val827Leu)
c.2425G>C (p.Val809Leu)
c.2350G>C (p.Val784Leu)
c.1945G>C (p.Val649Leu)
c.1303G>C (p.Val435Leu)
n.2728G>C
10g.71695418G>TCA377136132CDH23c.2290G>T (p.Val764Leu)
c.1721G>T
c.2305G>T (p.Val769Leu)
c.1065G>T
c.2485G>T (p.Val829Leu)
c.2419G>T (p.Val807Leu)
c.2479G>T (p.Val827Leu)
c.2425G>T (p.Val809Leu)
c.2350G>T (p.Val784Leu)
c.1945G>T (p.Val649Leu)
c.1303G>T (p.Val435Leu)
n.2728G>T
10g.71695419T>ACA377136136CDH23c.2291T>A (p.Val764Glu)
c.1722T>A
c.2306T>A (p.Val769Glu)
c.1066T>A
c.2486T>A (p.Val829Glu)
c.2420T>A (p.Val807Glu)
c.2480T>A (p.Val827Glu)
c.2426T>A (p.Val809Glu)
c.2351T>A (p.Val784Glu)
c.1946T>A (p.Val649Glu)
c.1304T>A (p.Val435Glu)
n.2729T>A
10g.71695419T>CCA377136138CDH23c.2291T>C (p.Val764Ala)
c.1722T>C
c.2306T>C (p.Val769Ala)
c.1066T>C
c.2486T>C (p.Val829Ala)
c.2420T>C (p.Val807Ala)
c.2480T>C (p.Val827Ala)
c.2426T>C (p.Val809Ala)
c.2351T>C (p.Val784Ala)
c.1946T>C (p.Val649Ala)
c.1304T>C (p.Val435Ala)
n.2729T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71695419T>GCA377136139CDH23c.2291T>G (p.Val764Gly)
c.1722T>G
c.2306T>G (p.Val769Gly)
c.1066T>G
c.2486T>G (p.Val829Gly)
c.2420T>G (p.Val807Gly)
c.2480T>G (p.Val827Gly)
c.2426T>G (p.Val809Gly)
c.2351T>G (p.Val784Gly)
c.1946T>G (p.Val649Gly)
c.1304T>G (p.Val435Gly)
n.2729T>G
 gnomAD v4
10g.71695419T=CA1918830490CDH23c.2291T= (p.Val764=)
c.1722T=
c.2306T= (p.Val769=)
c.1066T=
c.2486T= (p.Val829=)
c.2420T= (p.Val807=)
c.2480T= (p.Val827=)
c.2426T= (p.Val809=)
c.2351T= (p.Val784=)
c.1946T= (p.Val649=)
c.1304T= (p.Val435=)
n.2729T=
10g.71695420A=CA1918830491CDH23c.2292A= (p.Val764=)
c.1723A=
c.2307A= (p.Val769=)
c.1067A=
c.2487A= (p.Val829=)
c.2421A= (p.Val807=)
c.2481A= (p.Val827=)
c.2427A= (p.Val809=)
c.2352A= (p.Val784=)
c.1947A= (p.Val649=)
c.1305A= (p.Val435=)
n.2730A=
10g.71695420A>CCA470060501CDH23c.2292A>C (p.Val764=)
c.1723A>C
c.2307A>C (p.Val769=)
c.1067A>C
c.2487A>C (p.Val829=)
c.2421A>C (p.Val807=)
c.2481A>C (p.Val827=)
c.2427A>C (p.Val809=)
c.2352A>C (p.Val784=)
c.1947A>C (p.Val649=)
c.1305A>C (p.Val435=)
n.2730A>C
10g.71695420A>GCA470060502CDH23c.2292A>G (p.Val764=)
c.1723A>G
c.2307A>G (p.Val769=)
c.1067A>G
c.2487A>G (p.Val829=)
c.2421A>G (p.Val807=)
c.2481A>G (p.Val827=)
c.2427A>G (p.Val809=)
c.2352A>G (p.Val784=)
c.1947A>G (p.Val649=)
c.1305A>G (p.Val435=)
n.2730A>G
 dbSNP
10g.71695420A>TCA470060503CDH23c.2292A>T (p.Val764=)
c.1723A>T
c.2307A>T (p.Val769=)
c.1067A>T
c.2487A>T (p.Val829=)
c.2421A>T (p.Val807=)
c.2481A>T (p.Val827=)
c.2427A>T (p.Val809=)
c.2352A>T (p.Val784=)
c.1947A>T (p.Val649=)
c.1305A>T (p.Val435=)
n.2730A>T
10g.71695422delCA2609545033CDH23c.2294del (p.Asn765ThrfsTer26)
c.1725del
c.2309del (p.Asn770ThrfsTer26)
c.1069del
c.2489del (p.Asn830ThrfsTer26)
c.2423del (p.Asn808ThrfsTer26)
c.2483del (p.Asn828ThrfsTer26)
c.2429del (p.Asn810ThrfsTer26)
c.2354del (p.Asn785ThrfsTer26)
c.1949del (p.Asn650ThrfsTer26)
c.1307del (p.Asn436ThrfsTer26)
n.2732del
 gnomAD v4
10g.71695421A>CCA377136142CDH23c.2293A>C (p.Asn765His)
c.1724A>C
c.2308A>C (p.Asn770His)
c.1068A>C
c.2488A>C (p.Asn830His)
c.2422A>C (p.Asn808His)
c.2482A>C (p.Asn828His)
c.2428A>C (p.Asn810His)
c.2353A>C (p.Asn785His)
c.1948A>C (p.Asn650His)
c.1306A>C (p.Asn436His)
n.2731A>C
10g.71695421A>GCA377136143CDH23c.2293A>G (p.Asn765Asp)
c.1724A>G
c.2308A>G (p.Asn770Asp)
c.1068A>G
c.2488A>G (p.Asn830Asp)
c.2422A>G (p.Asn808Asp)
c.2482A>G (p.Asn828Asp)
c.2428A>G (p.Asn810Asp)
c.2353A>G (p.Asn785Asp)
c.1948A>G (p.Asn650Asp)
c.1306A>G (p.Asn436Asp)
n.2731A>G
10g.71695421A>TCA377136144CDH23c.2293A>T (p.Asn765Tyr)
c.1724A>T
c.2308A>T (p.Asn770Tyr)
c.1068A>T
c.2488A>T (p.Asn830Tyr)
c.2422A>T (p.Asn808Tyr)
c.2482A>T (p.Asn828Tyr)
c.2428A>T (p.Asn810Tyr)
c.2353A>T (p.Asn785Tyr)
c.1948A>T (p.Asn650Tyr)
c.1306A>T (p.Asn436Tyr)
n.2731A>T
10g.71695422A>CCA377136145CDH23c.2294A>C (p.Asn765Thr)
c.1725A>C
c.2309A>C (p.Asn770Thr)
c.1069A>C
c.2489A>C (p.Asn830Thr)
c.2423A>C (p.Asn808Thr)
c.2483A>C (p.Asn828Thr)
c.2429A>C (p.Asn810Thr)
c.2354A>C (p.Asn785Thr)
c.1949A>C (p.Asn650Thr)
c.1307A>C (p.Asn436Thr)
n.2732A>C
10g.71695422A>GCA377136146CDH23c.2294A>G (p.Asn765Ser)
c.1725A>G
c.2309A>G (p.Asn770Ser)
c.1069A>G
c.2489A>G (p.Asn830Ser)
c.2423A>G (p.Asn808Ser)
c.2483A>G (p.Asn828Ser)
c.2429A>G (p.Asn810Ser)
c.2354A>G (p.Asn785Ser)
c.1949A>G (p.Asn650Ser)
c.1307A>G (p.Asn436Ser)
n.2732A>G
 gnomAD v4
10g.71695422A>TCA377136147CDH23c.2294A>T (p.Asn765Ile)
c.1725A>T
c.2309A>T (p.Asn770Ile)
c.1069A>T
c.2489A>T (p.Asn830Ile)
c.2423A>T (p.Asn808Ile)
c.2483A>T (p.Asn828Ile)
c.2429A>T (p.Asn810Ile)
c.2354A>T (p.Asn785Ile)
c.1949A>T (p.Asn650Ile)
c.1307A>T (p.Asn436Ile)
n.2732A>T
10g.71695423C>ACA377136148CDH23c.2295C>A (p.Asn765Lys)
c.1726C>A
c.2310C>A (p.Asn770Lys)
c.1070C>A
c.2490C>A (p.Asn830Lys)
c.2424C>A (p.Asn808Lys)
c.2484C>A (p.Asn828Lys)
c.2430C>A (p.Asn810Lys)
c.2355C>A (p.Asn785Lys)
c.1950C>A (p.Asn650Lys)
c.1308C>A (p.Asn436Lys)
n.2733C>A
 gnomAD v4
10g.71695423C>GCA377136149CDH23c.2295C>G (p.Asn765Lys)
c.1726C>G
c.2310C>G (p.Asn770Lys)
c.1070C>G
c.2490C>G (p.Asn830Lys)
c.2424C>G (p.Asn808Lys)
c.2484C>G (p.Asn828Lys)
c.2430C>G (p.Asn810Lys)
c.2355C>G (p.Asn785Lys)
c.1950C>G (p.Asn650Lys)
c.1308C>G (p.Asn436Lys)
n.2733C>G
10g.71695423C>TCA470060504CDH23c.2295C>T (p.Asn765=)
c.1726C>T
c.2310C>T (p.Asn770=)
c.1070C>T
c.2490C>T (p.Asn830=)
c.2424C>T (p.Asn808=)
c.2484C>T (p.Asn828=)
c.2430C>T (p.Asn810=)
c.2355C>T (p.Asn785=)
c.1950C>T (p.Asn650=)
c.1308C>T (p.Asn436=)
n.2733C>T
 ClinVar
10g.71695425_71695427delCA2609545034CDH23c.2297_2299del (p.Ile766del)
c.1728_1730del
c.2312_2314del (p.Ile771del)
c.1072_1074del
c.2492_2494del (p.Ile831del)
c.2426_2428del (p.Ile809del)
c.2486_2488del (p.Ile829del)
c.2432_2434del (p.Ile811del)
c.2357_2359del (p.Ile786del)
c.1952_1954del (p.Ile651del)
c.1310_1312del (p.Ile437del)
n.2735_2737del
 gnomAD v4
10g.71695424A>CCA377136152CDH23c.2296A>C (p.Ile766Leu)
c.1727A>C
c.2311A>C (p.Ile771Leu)
c.1071A>C
c.2491A>C (p.Ile831Leu)
c.2425A>C (p.Ile809Leu)
c.2485A>C (p.Ile829Leu)
c.2431A>C (p.Ile811Leu)
c.2356A>C (p.Ile786Leu)
c.1951A>C (p.Ile651Leu)
c.1309A>C (p.Ile437Leu)
n.2734A>C
10g.71695424A>GCA377136150CDH23c.2296A>G (p.Ile766Val)
c.1727A>G
c.2311A>G (p.Ile771Val)
c.1071A>G
c.2491A>G (p.Ile831Val)
c.2425A>G (p.Ile809Val)
c.2485A>G (p.Ile829Val)
c.2431A>G (p.Ile811Val)
c.2356A>G (p.Ile786Val)
c.1951A>G (p.Ile651Val)
c.1309A>G (p.Ile437Val)
n.2734A>G
10g.71695424A>TCA377136151CDH23c.2296A>T (p.Ile766Phe)
c.1727A>T
c.2311A>T (p.Ile771Phe)
c.1071A>T
c.2491A>T (p.Ile831Phe)
c.2425A>T (p.Ile809Phe)
c.2485A>T (p.Ile829Phe)
c.2431A>T (p.Ile811Phe)
c.2356A>T (p.Ile786Phe)
c.1951A>T (p.Ile651Phe)
c.1309A>T (p.Ile437Phe)
n.2734A>T
10g.71695425T>ACA377136153CDH23c.2297T>A (p.Ile766Asn)
c.1728T>A
c.2312T>A (p.Ile771Asn)
c.1072T>A
c.2492T>A (p.Ile831Asn)
c.2426T>A (p.Ile809Asn)
c.2486T>A (p.Ile829Asn)
c.2432T>A (p.Ile811Asn)
c.2357T>A (p.Ile786Asn)
c.1952T>A (p.Ile651Asn)
c.1310T>A (p.Ile437Asn)
n.2735T>A
10g.71695425T>CCA377136156CDH23c.2297T>C (p.Ile766Thr)
c.1728T>C
c.2312T>C (p.Ile771Thr)
c.1072T>C
c.2492T>C (p.Ile831Thr)
c.2426T>C (p.Ile809Thr)
c.2486T>C (p.Ile829Thr)
c.2432T>C (p.Ile811Thr)
c.2357T>C (p.Ile786Thr)
c.1952T>C (p.Ile651Thr)
c.1310T>C (p.Ile437Thr)
n.2735T>C
10g.71695425T>GCA377136154CDH23c.2297T>G (p.Ile766Ser)
c.1728T>G
c.2312T>G (p.Ile771Ser)
c.1072T>G
c.2492T>G (p.Ile831Ser)
c.2426T>G (p.Ile809Ser)
c.2486T>G (p.Ile829Ser)
c.2432T>G (p.Ile811Ser)
c.2357T>G (p.Ile786Ser)
c.1952T>G (p.Ile651Ser)
c.1310T>G (p.Ile437Ser)
n.2735T>G
10g.71695426C>ACA470060505CDH23c.2298C>A (p.Ile766=)
c.1729C>A
c.2313C>A (p.Ile771=)
c.1073C>A
c.2493C>A (p.Ile831=)
c.2427C>A (p.Ile809=)
c.2487C>A (p.Ile829=)
c.2433C>A (p.Ile811=)
c.2358C>A (p.Ile786=)
c.1953C>A (p.Ile651=)
c.1311C>A (p.Ile437=)
n.2736C>A
 ClinVar gnomAD v4
10g.71695426C>GCA377136158CDH23c.2298C>G (p.Ile766Met)
c.1729C>G
c.2313C>G (p.Ile771Met)
c.1073C>G
c.2493C>G (p.Ile831Met)
c.2427C>G (p.Ile809Met)
c.2487C>G (p.Ile829Met)
c.2433C>G (p.Ile811Met)
c.2358C>G (p.Ile786Met)
c.1953C>G (p.Ile651Met)
c.1311C>G (p.Ile437Met)
n.2736C>G
10g.71695426C>TCA470060506CDH23c.2298C>T (p.Ile766=)
c.1729C>T
c.2313C>T (p.Ile771=)
c.1073C>T
c.2493C>T (p.Ile831=)
c.2427C>T (p.Ile809=)
c.2487C>T (p.Ile829=)
c.2433C>T (p.Ile811=)
c.2358C>T (p.Ile786=)
c.1953C>T (p.Ile651=)
c.1311C>T (p.Ile437=)
n.2736C>T
 ClinVar dbSNP
10g.71695427A=CA1918830492CDH23c.2299A= (p.Thr767=)
c.1730A=
c.2314A= (p.Thr772=)
c.1074A=
c.2494A= (p.Thr832=)
c.2428A= (p.Thr810=)
c.2488A= (p.Thr830=)
c.2434A= (p.Thr812=)
c.2359A= (p.Thr787=)
c.1954A= (p.Thr652=)
c.1312A= (p.Thr438=)
n.2737A=
10g.71695427A>CCA377136166CDH23c.2299A>C (p.Thr767Pro)
c.1730A>C
c.2314A>C (p.Thr772Pro)
c.1074A>C
c.2494A>C (p.Thr832Pro)
c.2428A>C (p.Thr810Pro)
c.2488A>C (p.Thr830Pro)
c.2434A>C (p.Thr812Pro)
c.2359A>C (p.Thr787Pro)
c.1954A>C (p.Thr652Pro)
c.1312A>C (p.Thr438Pro)
n.2737A>C
 dbSNP
10g.71695427A>GCA377136163CDH23c.2299A>G (p.Thr767Ala)
c.1730A>G
c.2314A>G (p.Thr772Ala)
c.1074A>G
c.2494A>G (p.Thr832Ala)
c.2428A>G (p.Thr810Ala)
c.2488A>G (p.Thr830Ala)
c.2434A>G (p.Thr812Ala)
c.2359A>G (p.Thr787Ala)
c.1954A>G (p.Thr652Ala)
c.1312A>G (p.Thr438Ala)
n.2737A>G
10g.71695427A>TCA377136168CDH23c.2299A>T (p.Thr767Ser)
c.1730A>T
c.2314A>T (p.Thr772Ser)
c.1074A>T
c.2494A>T (p.Thr832Ser)
c.2428A>T (p.Thr810Ser)
c.2488A>T (p.Thr830Ser)
c.2434A>T (p.Thr812Ser)
c.2359A>T (p.Thr787Ser)
c.1954A>T (p.Thr652Ser)
c.1312A>T (p.Thr438Ser)
n.2737A>T
10g.71695428C>ACA377136170CDH23c.2300C>A (p.Thr767Asn)
c.1731C>A
c.2315C>A (p.Thr772Asn)
c.1075C>A
c.2495C>A (p.Thr832Asn)
c.2429C>A (p.Thr810Asn)
c.2489C>A (p.Thr830Asn)
c.2435C>A (p.Thr812Asn)
c.2360C>A (p.Thr787Asn)
c.1955C>A (p.Thr652Asn)
c.1313C>A (p.Thr438Asn)
n.2738C>A
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
10g.71695428C=CA1918830493CDH23c.2300C= (p.Thr767=)
c.1731C=
c.2315C= (p.Thr772=)
c.1075C=
c.2495C= (p.Thr832=)
c.2429C= (p.Thr810=)
c.2489C= (p.Thr830=)
c.2435C= (p.Thr812=)
c.2360C= (p.Thr787=)
c.1955C= (p.Thr652=)
c.1313C= (p.Thr438=)
n.2738C=
10g.71695428C>GCA377136178CDH23c.2300C>G (p.Thr767Ser)
c.1731C>G
c.2315C>G (p.Thr772Ser)
c.1075C>G
c.2495C>G (p.Thr832Ser)
c.2429C>G (p.Thr810Ser)
c.2489C>G (p.Thr830Ser)
c.2435C>G (p.Thr812Ser)
c.2360C>G (p.Thr787Ser)
c.1955C>G (p.Thr652Ser)
c.1313C>G (p.Thr438Ser)
n.2738C>G
10g.71695428C>TCA5544176CDH23c.2300C>T (p.Thr767Ile)
c.1731C>T
c.2315C>T (p.Thr772Ile)
c.1075C>T
c.2495C>T (p.Thr832Ile)
c.2429C>T (p.Thr810Ile)
c.2489C>T (p.Thr830Ile)
c.2435C>T (p.Thr812Ile)
c.2360C>T (p.Thr787Ile)
c.1955C>T (p.Thr652Ile)
c.1313C>T (p.Thr438Ile)
n.2738C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695429C>ACA470060507CDH23c.2301C>A (p.Thr767=)
c.1732C>A
c.2316C>A (p.Thr772=)
c.1076C>A
c.2496C>A (p.Thr832=)
c.2430C>A (p.Thr810=)
c.2490C>A (p.Thr830=)
c.2436C>A (p.Thr812=)
c.2361C>A (p.Thr787=)
c.1956C>A (p.Thr652=)
c.1314C>A (p.Thr438=)
n.2739C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71695429C=CA1918830494CDH23c.2301C= (p.Thr767=)
c.1732C=
c.2316C= (p.Thr772=)
c.1076C=
c.2496C= (p.Thr832=)
c.2430C= (p.Thr810=)
c.2490C= (p.Thr830=)
c.2436C= (p.Thr812=)
c.2361C= (p.Thr787=)
c.1956C= (p.Thr652=)
c.1314C= (p.Thr438=)
n.2739C=
10g.71695429C>GCA470060509CDH23c.2301C>G (p.Thr767=)
c.1732C>G
c.2316C>G (p.Thr772=)
c.1076C>G
c.2496C>G (p.Thr832=)
c.2430C>G (p.Thr810=)
c.2490C>G (p.Thr830=)
c.2436C>G (p.Thr812=)
c.2361C>G (p.Thr787=)
c.1956C>G (p.Thr652=)
c.1314C>G (p.Thr438=)
n.2739C>G
10g.71695429C>TCA470060508CDH23c.2301C>T (p.Thr767=)
c.1732C>T
c.2316C>T (p.Thr772=)
c.1076C>T
c.2496C>T (p.Thr832=)
c.2430C>T (p.Thr810=)
c.2490C>T (p.Thr830=)
c.2436C>T (p.Thr812=)
c.2361C>T (p.Thr787=)
c.1956C>T (p.Thr652=)
c.1314C>T (p.Thr438=)
n.2739C>T
10g.71695430C>ACA377136180CDH23c.2302C>A (p.Leu768Ile)
c.1733C>A
c.2317C>A (p.Leu773Ile)
c.1077C>A
c.2497C>A (p.Leu833Ile)
c.2431C>A (p.Leu811Ile)
c.2491C>A (p.Leu831Ile)
c.2437C>A (p.Leu813Ile)
c.2362C>A (p.Leu788Ile)
c.1957C>A (p.Leu653Ile)
c.1315C>A (p.Leu439Ile)
n.2740C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71695430C=CA1918830495CDH23c.2302C= (p.Leu768=)
c.1733C=
c.2317C= (p.Leu773=)
c.1077C=
c.2497C= (p.Leu833=)
c.2431C= (p.Leu811=)
c.2491C= (p.Leu831=)
c.2437C= (p.Leu813=)
c.2362C= (p.Leu788=)
c.1957C= (p.Leu653=)
c.1315C= (p.Leu439=)
n.2740C=
10g.71695430C>GCA377136182CDH23c.2302C>G (p.Leu768Val)
c.1733C>G
c.2317C>G (p.Leu773Val)
c.1077C>G
c.2497C>G (p.Leu833Val)
c.2431C>G (p.Leu811Val)
c.2491C>G (p.Leu831Val)
c.2437C>G (p.Leu813Val)
c.2362C>G (p.Leu788Val)
c.1957C>G (p.Leu653Val)
c.1315C>G (p.Leu439Val)
n.2740C>G
10g.71695430C>TCA5544177CDH23c.2302C>T (p.Leu768Phe)
c.1733C>T
c.2317C>T (p.Leu773Phe)
c.1077C>T
c.2497C>T (p.Leu833Phe)
c.2431C>T (p.Leu811Phe)
c.2491C>T (p.Leu831Phe)
c.2437C>T (p.Leu813Phe)
c.2362C>T (p.Leu788Phe)
c.1957C>T (p.Leu653Phe)
c.1315C>T (p.Leu439Phe)
n.2740C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695431T>ACA377136186CDH23c.2303T>A (p.Leu768His)
c.1734T>A
c.2318T>A (p.Leu773His)
c.1078T>A
c.2498T>A (p.Leu833His)
c.2432T>A (p.Leu811His)
c.2492T>A (p.Leu831His)
c.2438T>A (p.Leu813His)
c.2363T>A (p.Leu788His)
c.1958T>A (p.Leu653His)
c.1316T>A (p.Leu439His)
n.2741T>A
10g.71695431T>CCA377136188CDH23c.2303T>C (p.Leu768Pro)
c.1734T>C
c.2318T>C (p.Leu773Pro)
c.1078T>C
c.2498T>C (p.Leu833Pro)
c.2432T>C (p.Leu811Pro)
c.2492T>C (p.Leu831Pro)
c.2438T>C (p.Leu813Pro)
c.2363T>C (p.Leu788Pro)
c.1958T>C (p.Leu653Pro)
c.1316T>C (p.Leu439Pro)
n.2741T>C
 gnomAD v4
10g.71695431T>GCA377136189CDH23c.2303T>G (p.Leu768Arg)
c.1734T>G
c.2318T>G (p.Leu773Arg)
c.1078T>G
c.2498T>G (p.Leu833Arg)
c.2432T>G (p.Leu811Arg)
c.2492T>G (p.Leu831Arg)
c.2438T>G (p.Leu813Arg)
c.2363T>G (p.Leu788Arg)
c.1958T>G (p.Leu653Arg)
c.1316T>G (p.Leu439Arg)
n.2741T>G
10g.71695432C>ACA470060510CDH23c.2304C>A (p.Leu768=)
c.1735C>A
c.2319C>A (p.Leu773=)
c.1079C>A
c.2499C>A (p.Leu833=)
c.2433C>A (p.Leu811=)
c.2493C>A (p.Leu831=)
c.2439C>A (p.Leu813=)
c.2364C>A (p.Leu788=)
c.1959C>A (p.Leu653=)
c.1317C>A (p.Leu439=)
n.2742C>A
10g.71695432C>GCA470060511CDH23c.2304C>G (p.Leu768=)
c.1735C>G
c.2319C>G (p.Leu773=)
c.1079C>G
c.2499C>G (p.Leu833=)
c.2433C>G (p.Leu811=)
c.2493C>G (p.Leu831=)
c.2439C>G (p.Leu813=)
c.2364C>G (p.Leu788=)
c.1959C>G (p.Leu653=)
c.1317C>G (p.Leu439=)
n.2742C>G
10g.71695432C>TCA470060512CDH23c.2304C>T (p.Leu768=)
c.1735C>T
c.2319C>T (p.Leu773=)
c.1079C>T
c.2499C>T (p.Leu833=)
c.2433C>T (p.Leu811=)
c.2493C>T (p.Leu831=)
c.2439C>T (p.Leu813=)
c.2364C>T (p.Leu788=)
c.1959C>T (p.Leu653=)
c.1317C>T (p.Leu439=)
n.2742C>T
10g.71695433C>ACA377136190CDH23c.2305C>A (p.Leu769Met)
c.1736C>A
c.2320C>A (p.Leu774Met)
c.1080C>A
c.2500C>A (p.Leu834Met)
c.2434C>A (p.Leu812Met)
c.2494C>A (p.Leu832Met)
c.2440C>A (p.Leu814Met)
c.2365C>A (p.Leu789Met)
c.1960C>A (p.Leu654Met)
c.1318C>A (p.Leu440Met)
n.2743C>A
10g.71695433C=CA1918830496CDH23c.2305C= (p.Leu769=)
c.1736C=
c.2320C= (p.Leu774=)
c.1080C=
c.2500C= (p.Leu834=)
c.2434C= (p.Leu812=)
c.2494C= (p.Leu832=)
c.2440C= (p.Leu814=)
c.2365C= (p.Leu789=)
c.1960C= (p.Leu654=)
c.1318C= (p.Leu440=)
n.2743C=
10g.71695433C>GCA377136199CDH23c.2305C>G (p.Leu769Val)
c.1736C>G
c.2320C>G (p.Leu774Val)
c.1080C>G
c.2500C>G (p.Leu834Val)
c.2434C>G (p.Leu812Val)
c.2494C>G (p.Leu832Val)
c.2440C>G (p.Leu814Val)
c.2365C>G (p.Leu789Val)
c.1960C>G (p.Leu654Val)
c.1318C>G (p.Leu440Val)
n.2743C>G
10g.71695433C>TCA5544178CDH23c.2305C>T (p.Leu769=)
c.1736C>T
c.2320C>T (p.Leu774=)
c.1080C>T
c.2500C>T (p.Leu834=)
c.2434C>T (p.Leu812=)
c.2494C>T (p.Leu832=)
c.2440C>T (p.Leu814=)
c.2365C>T (p.Leu789=)
c.1960C>T (p.Leu654=)
c.1318C>T (p.Leu440=)
n.2743C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695434T>ACA377136202CDH23c.2306T>A (p.Leu769Gln)
c.1737T>A
c.2321T>A (p.Leu774Gln)
c.1081T>A
c.2501T>A (p.Leu834Gln)
c.2435T>A (p.Leu812Gln)
c.2495T>A (p.Leu832Gln)
c.2441T>A (p.Leu814Gln)
c.2366T>A (p.Leu789Gln)
c.1961T>A (p.Leu654Gln)
c.1319T>A (p.Leu440Gln)
n.2744T>A
10g.71695434T>CCA377136204CDH23c.2306T>C (p.Leu769Pro)
c.1737T>C
c.2321T>C (p.Leu774Pro)
c.1081T>C
c.2501T>C (p.Leu834Pro)
c.2435T>C (p.Leu812Pro)
c.2495T>C (p.Leu832Pro)
c.2441T>C (p.Leu814Pro)
c.2366T>C (p.Leu789Pro)
c.1961T>C (p.Leu654Pro)
c.1319T>C (p.Leu440Pro)
n.2744T>C
 dbSNP
10g.71695434T>GCA377136209CDH23c.2306T>G (p.Leu769Arg)
c.1737T>G
c.2321T>G (p.Leu774Arg)
c.1081T>G
c.2501T>G (p.Leu834Arg)
c.2435T>G (p.Leu812Arg)
c.2495T>G (p.Leu832Arg)
c.2441T>G (p.Leu814Arg)
c.2366T>G (p.Leu789Arg)
c.1961T>G (p.Leu654Arg)
c.1319T>G (p.Leu440Arg)
n.2744T>G
10g.71695434T=CA1918830497CDH23c.2306T= (p.Leu769=)
c.1737T=
c.2321T= (p.Leu774=)
c.1081T=
c.2501T= (p.Leu834=)
c.2435T= (p.Leu812=)
c.2495T= (p.Leu832=)
c.2441T= (p.Leu814=)
c.2366T= (p.Leu789=)
c.1961T= (p.Leu654=)
c.1319T= (p.Leu440=)
n.2744T=
10g.71695435G>ACA470060513CDH23c.2307G>A (p.Leu769=)
c.1738G>A
c.2322G>A (p.Leu774=)
c.1082G>A
c.2502G>A (p.Leu834=)
c.2436G>A (p.Leu812=)
c.2496G>A (p.Leu832=)
c.2442G>A (p.Leu814=)
c.2367G>A (p.Leu789=)
c.1962G>A (p.Leu654=)
c.1320G>A (p.Leu440=)
n.2745G>A
10g.71695435G>CCA470060515CDH23c.2307G>C (p.Leu769=)
c.1738G>C
c.2322G>C (p.Leu774=)
c.1082G>C
c.2502G>C (p.Leu834=)
c.2436G>C (p.Leu812=)
c.2496G>C (p.Leu832=)
c.2442G>C (p.Leu814=)
c.2367G>C (p.Leu789=)
c.1962G>C (p.Leu654=)
c.1320G>C (p.Leu440=)
n.2745G>C
10g.71695435G>TCA470060514CDH23c.2307G>T (p.Leu769=)
c.1738G>T
c.2322G>T (p.Leu774=)
c.1082G>T
c.2502G>T (p.Leu834=)
c.2436G>T (p.Leu812=)
c.2496G>T (p.Leu832=)
c.2442G>T (p.Leu814=)
c.2367G>T (p.Leu789=)
c.1962G>T (p.Leu654=)
c.1320G>T (p.Leu440=)
n.2745G>T
10g.71695436delCA2609545042CDH23c.2308del (p.Asp770ThrfsTer21)
c.1739del
c.2323del (p.Asp775ThrfsTer21)
c.1083del
c.2503del (p.Asp835ThrfsTer21)
c.2437del (p.Asp813ThrfsTer21)
c.2497del (p.Asp833ThrfsTer21)
c.2443del (p.Asp815ThrfsTer21)
c.2368del (p.Asp790ThrfsTer21)
c.1963del (p.Asp655ThrfsTer21)
c.1321del (p.Asp441ThrfsTer21)
n.2746del
 gnomAD v4
10g.71695436G>ACA377136217CDH23c.2308G>A (p.Asp770Asn)
c.1739G>A
c.2323G>A (p.Asp775Asn)
c.1083G>A
c.2503G>A (p.Asp835Asn)
c.2437G>A (p.Asp813Asn)
c.2497G>A (p.Asp833Asn)
c.2443G>A (p.Asp815Asn)
c.2368G>A (p.Asp790Asn)
c.1963G>A (p.Asp655Asn)
c.1321G>A (p.Asp441Asn)
n.2746G>A
10g.71695436G>CCA377136211CDH23c.2308G>C (p.Asp770His)
c.1739G>C
c.2323G>C (p.Asp775His)
c.1083G>C
c.2503G>C (p.Asp835His)
c.2437G>C (p.Asp813His)
c.2497G>C (p.Asp833His)
c.2443G>C (p.Asp815His)
c.2368G>C (p.Asp790His)
c.1963G>C (p.Asp655His)
c.1321G>C (p.Asp441His)
n.2746G>C
10g.71695436G>TCA377136213CDH23c.2308G>T (p.Asp770Tyr)
c.1739G>T
c.2323G>T (p.Asp775Tyr)
c.1083G>T
c.2503G>T (p.Asp835Tyr)
c.2437G>T (p.Asp813Tyr)
c.2497G>T (p.Asp833Tyr)
c.2443G>T (p.Asp815Tyr)
c.2368G>T (p.Asp790Tyr)
c.1963G>T (p.Asp655Tyr)
c.1321G>T (p.Asp441Tyr)
n.2746G>T
10g.71695437A>CCA377136220CDH23c.2309A>C (p.Asp770Ala)
c.1740A>C
c.2324A>C (p.Asp775Ala)
c.1084A>C
c.2504A>C (p.Asp835Ala)
c.2438A>C (p.Asp813Ala)
c.2498A>C (p.Asp833Ala)
c.2444A>C (p.Asp815Ala)
c.2369A>C (p.Asp790Ala)
c.1964A>C (p.Asp655Ala)
c.1322A>C (p.Asp441Ala)
n.2747A>C
10g.71695437A>GCA377136225CDH23c.2309A>G (p.Asp770Gly)
c.1740A>G
c.2324A>G (p.Asp775Gly)
c.1084A>G
c.2504A>G (p.Asp835Gly)
c.2438A>G (p.Asp813Gly)
c.2498A>G (p.Asp833Gly)
c.2444A>G (p.Asp815Gly)
c.2369A>G (p.Asp790Gly)
c.1964A>G (p.Asp655Gly)
c.1322A>G (p.Asp441Gly)
n.2747A>G
 ClinVar
10g.71695437A>TCA377136227CDH23c.2309A>T (p.Asp770Val)
c.1740A>T
c.2324A>T (p.Asp775Val)
c.1084A>T
c.2504A>T (p.Asp835Val)
c.2438A>T (p.Asp813Val)
c.2498A>T (p.Asp833Val)
c.2444A>T (p.Asp815Val)
c.2369A>T (p.Asp790Val)
c.1964A>T (p.Asp655Val)
c.1322A>T (p.Asp441Val)
n.2747A>T
10g.71695438C>ACA377136229CDH23c.2310C>A (p.Asp770Glu)
c.1741C>A
c.2325C>A (p.Asp775Glu)
c.1085C>A
c.2505C>A (p.Asp835Glu)
c.2439C>A (p.Asp813Glu)
c.2499C>A (p.Asp833Glu)
c.2445C>A (p.Asp815Glu)
c.2370C>A (p.Asp790Glu)
c.1965C>A (p.Asp655Glu)
c.1323C>A (p.Asp441Glu)
n.2748C>A
10g.71695438C=CA1918830498CDH23c.2310C= (p.Asp770=)
c.1741C=
c.2325C= (p.Asp775=)
c.1085C=
c.2505C= (p.Asp835=)
c.2439C= (p.Asp813=)
c.2499C= (p.Asp833=)
c.2445C= (p.Asp815=)
c.2370C= (p.Asp790=)
c.1965C= (p.Asp655=)
c.1323C= (p.Asp441=)
n.2748C=
10g.71695438C>GCA377136230CDH23c.2310C>G (p.Asp770Glu)
c.1741C>G
c.2325C>G (p.Asp775Glu)
c.1085C>G
c.2505C>G (p.Asp835Glu)
c.2439C>G (p.Asp813Glu)
c.2499C>G (p.Asp833Glu)
c.2445C>G (p.Asp815Glu)
c.2370C>G (p.Asp790Glu)
c.1965C>G (p.Asp655Glu)
c.1323C>G (p.Asp441Glu)
n.2748C>G
10g.71695438C>TCA10636081CDH23c.2310C>T (p.Asp770=)
c.1741C>T
c.2325C>T (p.Asp775=)
c.1085C>T
c.2505C>T (p.Asp835=)
c.2439C>T (p.Asp813=)
c.2499C>T (p.Asp833=)
c.2445C>T (p.Asp815=)
c.2370C>T (p.Asp790=)
c.1965C>T (p.Asp655=)
c.1323C>T (p.Asp441=)
n.2748C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71695439A=CA1918830499CDH23c.2311A= (p.Ile771=)
c.1742A=
c.2326A= (p.Ile776=)
c.1086A=
c.2506A= (p.Ile836=)
c.2440A= (p.Ile814=)
c.2500A= (p.Ile834=)
c.2446A= (p.Ile816=)
c.2371A= (p.Ile791=)
c.1966A= (p.Ile656=)
c.1324A= (p.Ile442=)
n.2749A=
10g.71695439A>CCA377136233CDH23c.2311A>C (p.Ile771Leu)
c.1742A>C
c.2326A>C (p.Ile776Leu)
c.1086A>C
c.2506A>C (p.Ile836Leu)
c.2440A>C (p.Ile814Leu)
c.2500A>C (p.Ile834Leu)
c.2446A>C (p.Ile816Leu)
c.2371A>C (p.Ile791Leu)
c.1966A>C (p.Ile656Leu)
c.1324A>C (p.Ile442Leu)
n.2749A>C
10g.71695439A>GCA5544179CDH23c.2311A>G (p.Ile771Val)
c.1742A>G
c.2326A>G (p.Ile776Val)
c.1086A>G
c.2506A>G (p.Ile836Val)
c.2440A>G (p.Ile814Val)
c.2500A>G (p.Ile834Val)
c.2446A>G (p.Ile816Val)
c.2371A>G (p.Ile791Val)
c.1966A>G (p.Ile656Val)
c.1324A>G (p.Ile442Val)
n.2749A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695439A>TCA377136236CDH23c.2311A>T (p.Ile771Phe)
c.1742A>T
c.2326A>T (p.Ile776Phe)
c.1086A>T
c.2506A>T (p.Ile836Phe)
c.2440A>T (p.Ile814Phe)
c.2500A>T (p.Ile834Phe)
c.2446A>T (p.Ile816Phe)
c.2371A>T (p.Ile791Phe)
c.1966A>T (p.Ile656Phe)
c.1324A>T (p.Ile442Phe)
n.2749A>T
10g.71695440T>ACA377136239CDH23c.2312T>A (p.Ile771Asn)
c.1743T>A
c.2327T>A (p.Ile776Asn)
c.1087T>A
c.2507T>A (p.Ile836Asn)
c.2441T>A (p.Ile814Asn)
c.2501T>A (p.Ile834Asn)
c.2447T>A (p.Ile816Asn)
c.2372T>A (p.Ile791Asn)
c.1967T>A (p.Ile656Asn)
c.1325T>A (p.Ile442Asn)
n.2750T>A
10g.71695440T>CCA377136241CDH23c.2312T>C (p.Ile771Thr)
c.1743T>C
c.2327T>C (p.Ile776Thr)
c.1087T>C
c.2507T>C (p.Ile836Thr)
c.2441T>C (p.Ile814Thr)
c.2501T>C (p.Ile834Thr)
c.2447T>C (p.Ile816Thr)
c.2372T>C (p.Ile791Thr)
c.1967T>C (p.Ile656Thr)
c.1325T>C (p.Ile442Thr)
n.2750T>C
10g.71695440T>GCA377136243CDH23c.2312T>G (p.Ile771Ser)
c.1743T>G
c.2327T>G (p.Ile776Ser)
c.1087T>G
c.2507T>G (p.Ile836Ser)
c.2441T>G (p.Ile814Ser)
c.2501T>G (p.Ile834Ser)
c.2447T>G (p.Ile816Ser)
c.2372T>G (p.Ile791Ser)
c.1967T>G (p.Ile656Ser)
c.1325T>G (p.Ile442Ser)
n.2750T>G
10g.71695441C>ACA470060516CDH23c.2313C>A (p.Ile771=)
c.1744C>A
c.2328C>A (p.Ile776=)
c.1088C>A
c.2508C>A (p.Ile836=)
c.2442C>A (p.Ile814=)
c.2502C>A (p.Ile834=)
c.2448C>A (p.Ile816=)
c.2373C>A (p.Ile791=)
c.1968C>A (p.Ile656=)
c.1326C>A (p.Ile442=)
n.2751C>A
10g.71695441C=CA1918830500CDH23c.2313C= (p.Ile771=)
c.1744C=
c.2328C= (p.Ile776=)
c.1088C=
c.2508C= (p.Ile836=)
c.2442C= (p.Ile814=)
c.2502C= (p.Ile834=)
c.2448C= (p.Ile816=)
c.2373C= (p.Ile791=)
c.1968C= (p.Ile656=)
c.1326C= (p.Ile442=)
n.2751C=
10g.71695441C>GCA377136252CDH23c.2313C>G (p.Ile771Met)
c.1744C>G
c.2328C>G (p.Ile776Met)
c.1088C>G
c.2508C>G (p.Ile836Met)
c.2442C>G (p.Ile814Met)
c.2502C>G (p.Ile834Met)
c.2448C>G (p.Ile816Met)
c.2373C>G (p.Ile791Met)
c.1968C>G (p.Ile656Met)
c.1326C>G (p.Ile442Met)
n.2751C>G
10g.71695441C>TCA470060517CDH23c.2313C>T (p.Ile771=)
c.1744C>T
c.2328C>T (p.Ile776=)
c.1088C>T
c.2508C>T (p.Ile836=)
c.2442C>T (p.Ile814=)
c.2502C>T (p.Ile834=)
c.2448C>T (p.Ile816=)
c.2373C>T (p.Ile791=)
c.1968C>T (p.Ile656=)
c.1326C>T (p.Ile442=)
n.2751C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71695442A>CCA377136261CDH23c.2314A>C (p.Asn772His)
c.1745A>C
c.2329A>C (p.Asn777His)
c.1089A>C
c.2509A>C (p.Asn837His)
c.2443A>C (p.Asn815His)
c.2503A>C (p.Asn835His)
c.2449A>C (p.Asn817His)
c.2374A>C (p.Asn792His)
c.1969A>C (p.Asn657His)
c.1327A>C (p.Asn443His)
n.2752A>C
10g.71695442A>GCA377136256CDH23c.2314A>G (p.Asn772Asp)
c.1745A>G
c.2329A>G (p.Asn777Asp)
c.1089A>G
c.2509A>G (p.Asn837Asp)
c.2443A>G (p.Asn815Asp)
c.2503A>G (p.Asn835Asp)
c.2449A>G (p.Asn817Asp)
c.2374A>G (p.Asn792Asp)
c.1969A>G (p.Asn657Asp)
c.1327A>G (p.Asn443Asp)
n.2752A>G
10g.71695442A>TCA377136259CDH23c.2314A>T (p.Asn772Tyr)
c.1745A>T
c.2329A>T (p.Asn777Tyr)
c.1089A>T
c.2509A>T (p.Asn837Tyr)
c.2443A>T (p.Asn815Tyr)
c.2503A>T (p.Asn835Tyr)
c.2449A>T (p.Asn817Tyr)
c.2374A>T (p.Asn792Tyr)
c.1969A>T (p.Asn657Tyr)
c.1327A>T (p.Asn443Tyr)
n.2752A>T
10g.71695443A>CCA377136264CDH23c.2315A>C (p.Asn772Thr)
c.1746A>C
c.2330A>C (p.Asn777Thr)
c.1090A>C
c.2510A>C (p.Asn837Thr)
c.2444A>C (p.Asn815Thr)
c.2504A>C (p.Asn835Thr)
c.2450A>C (p.Asn817Thr)
c.2375A>C (p.Asn792Thr)
c.1970A>C (p.Asn657Thr)
c.1328A>C (p.Asn443Thr)
n.2753A>C
10g.71695443A>GCA377136267CDH23c.2315A>G (p.Asn772Ser)
c.1746A>G
c.2330A>G (p.Asn777Ser)
c.1090A>G
c.2510A>G (p.Asn837Ser)
c.2444A>G (p.Asn815Ser)
c.2504A>G (p.Asn835Ser)
c.2450A>G (p.Asn817Ser)
c.2375A>G (p.Asn792Ser)
c.1970A>G (p.Asn657Ser)
c.1328A>G (p.Asn443Ser)
n.2753A>G
10g.71695443A>TCA377136269CDH23c.2315A>T (p.Asn772Ile)
c.1746A>T
c.2330A>T (p.Asn777Ile)
c.1090A>T
c.2510A>T (p.Asn837Ile)
c.2444A>T (p.Asn815Ile)
c.2504A>T (p.Asn835Ile)
c.2450A>T (p.Asn817Ile)
c.2375A>T (p.Asn792Ile)
c.1970A>T (p.Asn657Ile)
c.1328A>T (p.Asn443Ile)
n.2753A>T
10g.71695444T>ACA377136271CDH23c.2316T>A (p.Asn772Lys)
c.1747T>A
c.2331T>A (p.Asn777Lys)
c.1091T>A
c.2511T>A (p.Asn837Lys)
c.2445T>A (p.Asn815Lys)
c.2505T>A (p.Asn835Lys)
c.2451T>A (p.Asn817Lys)
c.2376T>A (p.Asn792Lys)
c.1971T>A (p.Asn657Lys)
c.1329T>A (p.Asn443Lys)
n.2754T>A
10g.71695444T>CCA137320CDH23c.2316T>C (p.Asn772=)
c.1747T>C
c.2331T>C (p.Asn777=)
c.1091T>C
c.2511T>C (p.Asn837=)
c.2445T>C (p.Asn815=)
c.2505T>C (p.Asn835=)
c.2451T>C (p.Asn817=)
c.2376T>C (p.Asn792=)
c.1971T>C (p.Asn657=)
c.1329T>C (p.Asn443=)
n.2754T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695444T>GCA377136274CDH23c.2316T>G (p.Asn772Lys)
c.1747T>G
c.2331T>G (p.Asn777Lys)
c.1091T>G
c.2511T>G (p.Asn837Lys)
c.2445T>G (p.Asn815Lys)
c.2505T>G (p.Asn835Lys)
c.2451T>G (p.Asn817Lys)
c.2376T>G (p.Asn792Lys)
c.1971T>G (p.Asn657Lys)
c.1329T>G (p.Asn443Lys)
n.2754T>G
10g.71695444T=CA180660CDH23c.2316T= (p.Asn772=)
c.1747T=
c.2331T= (p.Asn777=)
c.1091T=
c.2511T= (p.Asn837=)
c.2445T= (p.Asn815=)
c.2505T= (p.Asn835=)
c.2451T= (p.Asn817=)
c.2376T= (p.Asn792=)
c.1971T= (p.Asn657=)
c.1329T= (p.Asn443=)
n.2754T=
10g.71695444_71695445insCCA2609545044CDH23c.2316_2317insC (p.Asp773ArgfsTer24)
c.1747_1748insC
c.2331_2332insC (p.Asp778ArgfsTer24)
c.1091_1092insC
c.2511_2512insC (p.Asp838ArgfsTer24)
c.2445_2446insC (p.Asp816ArgfsTer24)
c.2505_2506insC (p.Asp836ArgfsTer24)
c.2451_2452insC (p.Asp818ArgfsTer24)
c.2376_2377insC (p.Asp793ArgfsTer24)
c.1971_1972insC (p.Asp658ArgfsTer24)
c.1329_1330insC (p.Asp444ArgfsTer24)
n.2754_2755insC
 gnomAD v4
10g.71695445G>ACA5544180CDH23c.2317G>A (p.Asp773Asn)
c.1748G>A
c.2332G>A (p.Asp778Asn)
c.1092G>A
c.2512G>A (p.Asp838Asn)
c.2446G>A (p.Asp816Asn)
c.2506G>A (p.Asp836Asn)
c.2452G>A (p.Asp818Asn)
c.2377G>A (p.Asp793Asn)
c.1972G>A (p.Asp658Asn)
c.1330G>A (p.Asp444Asn)
n.2755G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695445G>CCA377136275CDH23c.2317G>C (p.Asp773His)
c.1748G>C
c.2332G>C (p.Asp778His)
c.1092G>C
c.2512G>C (p.Asp838His)
c.2446G>C (p.Asp816His)
c.2506G>C (p.Asp836His)
c.2452G>C (p.Asp818His)
c.2377G>C (p.Asp793His)
c.1972G>C (p.Asp658His)
c.1330G>C (p.Asp444His)
n.2755G>C
10g.71695445G=CA1918830501CDH23c.2317G= (p.Asp773=)
c.1748G=
c.2332G= (p.Asp778=)
c.1092G=
c.2512G= (p.Asp838=)
c.2446G= (p.Asp816=)
c.2506G= (p.Asp836=)
c.2452G= (p.Asp818=)
c.2377G= (p.Asp793=)
c.1972G= (p.Asp658=)
c.1330G= (p.Asp444=)
n.2755G=
10g.71695445G>TCA377136277CDH23c.2317G>T (p.Asp773Tyr)
c.1748G>T
c.2332G>T (p.Asp778Tyr)
c.1092G>T
c.2512G>T (p.Asp838Tyr)
c.2446G>T (p.Asp816Tyr)
c.2506G>T (p.Asp836Tyr)
c.2452G>T (p.Asp818Tyr)
c.2377G>T (p.Asp793Tyr)
c.1972G>T (p.Asp658Tyr)
c.1330G>T (p.Asp444Tyr)
n.2755G>T
10g.71695445_71695446delCA2609545045CDH23c.2317_2318del (p.Asp773GlnfsTer23)
c.1748_1749del
c.2332_2333del (p.Asp778GlnfsTer23)
c.1092_1093del
c.2512_2513del (p.Asp838GlnfsTer23)
c.2446_2447del (p.Asp816GlnfsTer23)
c.2506_2507del (p.Asp836GlnfsTer23)
c.2452_2453del (p.Asp818GlnfsTer23)
c.2377_2378del (p.Asp793GlnfsTer23)
c.1972_1973del (p.Asp658GlnfsTer23)
c.1330_1331del (p.Asp444GlnfsTer23)
n.2755_2756del
 gnomAD v4
10g.71695445_71695449delCA2609545046CDH23c.2317_2321del (p.Asp773ProfsTer22)
c.1748_1752del
c.2332_2336del (p.Asp778ProfsTer22)
c.1092_1096del
c.2512_2516del (p.Asp838ProfsTer22)
c.2446_2450del (p.Asp816ProfsTer22)
c.2506_2510del (p.Asp836ProfsTer22)
c.2452_2456del (p.Asp818ProfsTer22)
c.2377_2381del (p.Asp793ProfsTer22)
c.1972_1976del (p.Asp658ProfsTer22)
c.1330_1334del (p.Asp444ProfsTer22)
n.2755_2759del
 gnomAD v4
10g.71695446A>CCA377136283CDH23c.2318A>C (p.Asp773Ala)
c.1749A>C
c.2333A>C (p.Asp778Ala)
c.1093A>C
c.2513A>C (p.Asp838Ala)
c.2447A>C (p.Asp816Ala)
c.2507A>C (p.Asp836Ala)
c.2453A>C (p.Asp818Ala)
c.2378A>C (p.Asp793Ala)
c.1973A>C (p.Asp658Ala)
c.1331A>C (p.Asp444Ala)
n.2756A>C
10g.71695446A>GCA377136285CDH23c.2318A>G (p.Asp773Gly)
c.1749A>G
c.2333A>G (p.Asp778Gly)
c.1093A>G
c.2513A>G (p.Asp838Gly)
c.2447A>G (p.Asp816Gly)
c.2507A>G (p.Asp836Gly)
c.2453A>G (p.Asp818Gly)
c.2378A>G (p.Asp793Gly)
c.1973A>G (p.Asp658Gly)
c.1331A>G (p.Asp444Gly)
n.2756A>G
10g.71695446A>TCA377136279CDH23c.2318A>T (p.Asp773Val)
c.1749A>T
c.2333A>T (p.Asp778Val)
c.1093A>T
c.2513A>T (p.Asp838Val)
c.2447A>T (p.Asp816Val)
c.2507A>T (p.Asp836Val)
c.2453A>T (p.Asp818Val)
c.2378A>T (p.Asp793Val)
c.1973A>T (p.Asp658Val)
c.1331A>T (p.Asp444Val)
n.2756A>T
10g.71695447C>ACA377136288CDH23c.2319C>A (p.Asp773Glu)
c.1750C>A
c.2334C>A (p.Asp778Glu)
c.1094C>A
c.2514C>A (p.Asp838Glu)
c.2448C>A (p.Asp816Glu)
c.2508C>A (p.Asp836Glu)
c.2454C>A (p.Asp818Glu)
c.2379C>A (p.Asp793Glu)
c.1974C>A (p.Asp658Glu)
c.1332C>A (p.Asp444Glu)
n.2757C>A
 dbSNP gnomAD v4
10g.71695447C=CA1918830502CDH23c.2319C= (p.Asp773=)
c.1750C=
c.2334C= (p.Asp778=)
c.1094C=
c.2514C= (p.Asp838=)
c.2448C= (p.Asp816=)
c.2508C= (p.Asp836=)
c.2454C= (p.Asp818=)
c.2379C= (p.Asp793=)
c.1974C= (p.Asp658=)
c.1332C= (p.Asp444=)
n.2757C=
10g.71695447C>GCA377136291CDH23c.2319C>G (p.Asp773Glu)
c.1750C>G
c.2334C>G (p.Asp778Glu)
c.1094C>G
c.2514C>G (p.Asp838Glu)
c.2448C>G (p.Asp816Glu)
c.2508C>G (p.Asp836Glu)
c.2454C>G (p.Asp818Glu)
c.2379C>G (p.Asp793Glu)
c.1974C>G (p.Asp658Glu)
c.1332C>G (p.Asp444Glu)
n.2757C>G
 ClinVar dbSNP
10g.71695447C>TCA470060518CDH23c.2319C>T (p.Asp773=)
c.1750C>T
c.2334C>T (p.Asp778=)
c.1094C>T
c.2514C>T (p.Asp838=)
c.2448C>T (p.Asp816=)
c.2508C>T (p.Asp836=)
c.2454C>T (p.Asp818=)
c.2379C>T (p.Asp793=)
c.1974C>T (p.Asp658=)
c.1332C>T (p.Asp444=)
n.2757C>T
 ClinVar
10g.71695448A>CCA377136294CDH23c.2320A>C (p.Asn774His)
c.1751A>C
c.2335A>C (p.Asn779His)
c.1095A>C
c.2515A>C (p.Asn839His)
c.2449A>C (p.Asn817His)
c.2509A>C (p.Asn837His)
c.2455A>C (p.Asn819His)
c.2380A>C (p.Asn794His)
c.1975A>C (p.Asn659His)
c.1333A>C (p.Asn445His)
n.2758A>C
10g.71695448A>GCA377136295CDH23c.2320A>G (p.Asn774Asp)
c.1751A>G
c.2335A>G (p.Asn779Asp)
c.1095A>G
c.2515A>G (p.Asn839Asp)
c.2449A>G (p.Asn817Asp)
c.2509A>G (p.Asn837Asp)
c.2455A>G (p.Asn819Asp)
c.2380A>G (p.Asn794Asp)
c.1975A>G (p.Asn659Asp)
c.1333A>G (p.Asn445Asp)
n.2758A>G
10g.71695448A>TCA377136296CDH23c.2320A>T (p.Asn774Tyr)
c.1751A>T
c.2335A>T (p.Asn779Tyr)
c.1095A>T
c.2515A>T (p.Asn839Tyr)
c.2449A>T (p.Asn817Tyr)
c.2509A>T (p.Asn837Tyr)
c.2455A>T (p.Asn819Tyr)
c.2380A>T (p.Asn794Tyr)
c.1975A>T (p.Asn659Tyr)
c.1333A>T (p.Asn445Tyr)
n.2758A>T
10g.71695449A>CCA377136300CDH23c.2321A>C (p.Asn774Thr)
c.1752A>C
c.2336A>C (p.Asn779Thr)
c.1096A>C
c.2516A>C (p.Asn839Thr)
c.2450A>C (p.Asn817Thr)
c.2510A>C (p.Asn837Thr)
c.2456A>C (p.Asn819Thr)
c.2381A>C (p.Asn794Thr)
c.1976A>C (p.Asn659Thr)
c.1334A>C (p.Asn445Thr)
n.2759A>C
10g.71695449A>GCA377136297CDH23c.2321A>G (p.Asn774Ser)
c.1752A>G
c.2336A>G (p.Asn779Ser)
c.1096A>G
c.2516A>G (p.Asn839Ser)
c.2450A>G (p.Asn817Ser)
c.2510A>G (p.Asn837Ser)
c.2456A>G (p.Asn819Ser)
c.2381A>G (p.Asn794Ser)
c.1976A>G (p.Asn659Ser)
c.1334A>G (p.Asn445Ser)
n.2759A>G
 gnomAD v4
10g.71695449A>TCA377136299CDH23c.2321A>T (p.Asn774Ile)
c.1752A>T
c.2336A>T (p.Asn779Ile)
c.1096A>T
c.2516A>T (p.Asn839Ile)
c.2450A>T (p.Asn817Ile)
c.2510A>T (p.Asn837Ile)
c.2456A>T (p.Asn819Ile)
c.2381A>T (p.Asn794Ile)
c.1976A>T (p.Asn659Ile)
c.1334A>T (p.Asn445Ile)
n.2759A>T
10g.71695450C>ACA377136308CDH23c.2322C>A (p.Asn774Lys)
c.1753C>A
c.2337C>A (p.Asn779Lys)
c.1097C>A
c.2517C>A (p.Asn839Lys)
c.2451C>A (p.Asn817Lys)
c.2511C>A (p.Asn837Lys)
c.2457C>A (p.Asn819Lys)
c.2382C>A (p.Asn794Lys)
c.1977C>A (p.Asn659Lys)
c.1335C>A (p.Asn445Lys)
n.2760C>A
 gnomAD v4
10g.71695450C>GCA377136310CDH23c.2322C>G (p.Asn774Lys)
c.1753C>G
c.2337C>G (p.Asn779Lys)
c.1097C>G
c.2517C>G (p.Asn839Lys)
c.2451C>G (p.Asn817Lys)
c.2511C>G (p.Asn837Lys)
c.2457C>G (p.Asn819Lys)
c.2382C>G (p.Asn794Lys)
c.1977C>G (p.Asn659Lys)
c.1335C>G (p.Asn445Lys)
n.2760C>G
10g.71695450C>TCA470060519CDH23c.2322C>T (p.Asn774=)
c.1753C>T
c.2337C>T (p.Asn779=)
c.1097C>T
c.2517C>T (p.Asn839=)
c.2451C>T (p.Asn817=)
c.2511C>T (p.Asn837=)
c.2457C>T (p.Asn819=)
c.2382C>T (p.Asn794=)
c.1977C>T (p.Asn659=)
c.1335C>T (p.Asn445=)
n.2760C>T
 gnomAD v4
10g.71695451delCA2609545049CDH23c.2323del (p.His775ThrfsTer16)
c.1754del
c.2338del (p.His780ThrfsTer16)
c.1098del
c.2518del (p.His840ThrfsTer16)
c.2452del (p.His818ThrfsTer16)
c.2512del (p.His838ThrfsTer16)
c.2458del (p.His820ThrfsTer16)
c.2383del (p.His795ThrfsTer16)
c.1978del (p.His660ThrfsTer16)
c.1336del (p.His446ThrfsTer16)
n.2761del
 gnomAD v4
10g.71695451C>ACA377136311CDH23c.2323C>A (p.His775Asn)
c.1754C>A
c.2338C>A (p.His780Asn)
c.1098C>A
c.2518C>A (p.His840Asn)
c.2452C>A (p.His818Asn)
c.2512C>A (p.His838Asn)
c.2458C>A (p.His820Asn)
c.2383C>A (p.His795Asn)
c.1978C>A (p.His660Asn)
c.1336C>A (p.His446Asn)
n.2761C>A
10g.71695451C>GCA377136312CDH23c.2323C>G (p.His775Asp)
c.1754C>G
c.2338C>G (p.His780Asp)
c.1098C>G
c.2518C>G (p.His840Asp)
c.2452C>G (p.His818Asp)
c.2512C>G (p.His838Asp)
c.2458C>G (p.His820Asp)
c.2383C>G (p.His795Asp)
c.1978C>G (p.His660Asp)
c.1336C>G (p.His446Asp)
n.2761C>G
10g.71695451C>TCA377136313CDH23c.2323C>T (p.His775Tyr)
c.1754C>T
c.2338C>T (p.His780Tyr)
c.1098C>T
c.2518C>T (p.His840Tyr)
c.2452C>T (p.His818Tyr)
c.2512C>T (p.His838Tyr)
c.2458C>T (p.His820Tyr)
c.2383C>T (p.His795Tyr)
c.1978C>T (p.His660Tyr)
c.1336C>T (p.His446Tyr)
n.2761C>T
10g.71695452A>CCA377136315CDH23c.2324A>C (p.His775Pro)
c.1755A>C
c.2339A>C (p.His780Pro)
c.1099A>C
c.2519A>C (p.His840Pro)
c.2453A>C (p.His818Pro)
c.2513A>C (p.His838Pro)
c.2459A>C (p.His820Pro)
c.2384A>C (p.His795Pro)
c.1979A>C (p.His660Pro)
c.1337A>C (p.His446Pro)
n.2762A>C
10g.71695452A>GCA377136332CDH23c.2324A>G (p.His775Arg)
c.1755A>G
c.2339A>G (p.His780Arg)
c.1099A>G
c.2519A>G (p.His840Arg)
c.2453A>G (p.His818Arg)
c.2513A>G (p.His838Arg)
c.2459A>G (p.His820Arg)
c.2384A>G (p.His795Arg)
c.1979A>G (p.His660Arg)
c.1337A>G (p.His446Arg)
n.2762A>G
10g.71695452A>TCA377136329CDH23c.2324A>T (p.His775Leu)
c.1755A>T
c.2339A>T (p.His780Leu)
c.1099A>T
c.2519A>T (p.His840Leu)
c.2453A>T (p.His818Leu)
c.2513A>T (p.His838Leu)
c.2459A>T (p.His820Leu)
c.2384A>T (p.His795Leu)
c.1979A>T (p.His660Leu)
c.1337A>T (p.His446Leu)
n.2762A>T
10g.71695453C>ACA377136335CDH23c.2325C>A (p.His775Gln)
c.1756C>A
c.2340C>A (p.His780Gln)
c.1100C>A
c.2520C>A (p.His840Gln)
c.2454C>A (p.His818Gln)
c.2514C>A (p.His838Gln)
c.2460C>A (p.His820Gln)
c.2385C>A (p.His795Gln)
c.1980C>A (p.His660Gln)
c.1338C>A (p.His446Gln)
n.2763C>A
 dbSNP
10g.71695453C=CA1918830503CDH23c.2325C= (p.His775=)
c.1756C=
c.2340C= (p.His780=)
c.1100C=
c.2520C= (p.His840=)
c.2454C= (p.His818=)
c.2514C= (p.His838=)
c.2460C= (p.His820=)
c.2385C= (p.His795=)
c.1980C= (p.His660=)
c.1338C= (p.His446=)
n.2763C=
10g.71695453C>GCA377136342CDH23c.2325C>G (p.His775Gln)
c.1756C>G
c.2340C>G (p.His780Gln)
c.1100C>G
c.2520C>G (p.His840Gln)
c.2454C>G (p.His818Gln)
c.2514C>G (p.His838Gln)
c.2460C>G (p.His820Gln)
c.2385C>G (p.His795Gln)
c.1980C>G (p.His660Gln)
c.1338C>G (p.His446Gln)
n.2763C>G
10g.71695453C>TCA470060520CDH23c.2325C>T (p.His775=)
c.1756C>T
c.2340C>T (p.His780=)
c.1100C>T
c.2520C>T (p.His840=)
c.2454C>T (p.His818=)
c.2514C>T (p.His838=)
c.2460C>T (p.His820=)
c.2385C>T (p.His795=)
c.1980C>T (p.His660=)
c.1338C>T (p.His446=)
n.2763C>T
 gnomAD v4
10g.71695456delCA2580081831CDH23c.2328del (p.Thr777ArgfsTer14)
c.1759del
c.2343del (p.Thr782ArgfsTer14)
c.1103del
c.2523del (p.Thr842ArgfsTer14)
c.2457del (p.Thr820ArgfsTer14)
c.2517del (p.Thr840ArgfsTer14)
c.2463del (p.Thr822ArgfsTer14)
c.2388del (p.Thr797ArgfsTer14)
c.1983del (p.Thr662ArgfsTer14)
c.1341del (p.Thr448ArgfsTer14)
n.2766del
 ClinVar
10g.71695454C>ACA377136350CDH23c.2326C>A (p.Pro776Thr)
c.1757C>A
c.2341C>A (p.Pro781Thr)
c.1101C>A
c.2521C>A (p.Pro841Thr)
c.2455C>A (p.Pro819Thr)
c.2515C>A (p.Pro839Thr)
c.2461C>A (p.Pro821Thr)
c.2386C>A (p.Pro796Thr)
c.1981C>A (p.Pro661Thr)
c.1339C>A (p.Pro447Thr)
n.2764C>A
 gnomAD v4
10g.71695454C=CA1918830504CDH23c.2326C= (p.Pro776=)
c.1757C=
c.2341C= (p.Pro781=)
c.1101C=
c.2521C= (p.Pro841=)
c.2455C= (p.Pro819=)
c.2515C= (p.Pro839=)
c.2461C= (p.Pro821=)
c.2386C= (p.Pro796=)
c.1981C= (p.Pro661=)
c.1339C= (p.Pro447=)
n.2764C=
10g.71695454C>GCA377136351CDH23c.2326C>G (p.Pro776Ala)
c.1757C>G
c.2341C>G (p.Pro781Ala)
c.1101C>G
c.2521C>G (p.Pro841Ala)
c.2455C>G (p.Pro819Ala)
c.2515C>G (p.Pro839Ala)
c.2461C>G (p.Pro821Ala)
c.2386C>G (p.Pro796Ala)
c.1981C>G (p.Pro661Ala)
c.1339C>G (p.Pro447Ala)
n.2764C>G
10g.71695454C>TCA377136353CDH23c.2326C>T (p.Pro776Ser)
c.1757C>T
c.2341C>T (p.Pro781Ser)
c.1101C>T
c.2521C>T (p.Pro841Ser)
c.2455C>T (p.Pro819Ser)
c.2515C>T (p.Pro839Ser)
c.2461C>T (p.Pro821Ser)
c.2386C>T (p.Pro796Ser)
c.1981C>T (p.Pro661Ser)
c.1339C>T (p.Pro447Ser)
n.2764C>T
 dbSNP
10g.71695455C>ACA377136355CDH23c.2327C>A (p.Pro776His)
c.1758C>A
c.2342C>A (p.Pro781His)
c.1102C>A
c.2522C>A (p.Pro841His)
c.2456C>A (p.Pro819His)
c.2516C>A (p.Pro839His)
c.2462C>A (p.Pro821His)
c.2387C>A (p.Pro796His)
c.1982C>A (p.Pro661His)
c.1340C>A (p.Pro447His)
n.2765C>A
10g.71695455C=CA1918830505CDH23c.2327C= (p.Pro776=)
c.1758C=
c.2342C= (p.Pro781=)
c.1102C=
c.2522C= (p.Pro841=)
c.2456C= (p.Pro819=)
c.2516C= (p.Pro839=)
c.2462C= (p.Pro821=)
c.2387C= (p.Pro796=)
c.1982C= (p.Pro661=)
c.1340C= (p.Pro447=)
n.2765C=
10g.71695455C>GCA377136360CDH23c.2327C>G (p.Pro776Arg)
c.1758C>G
c.2342C>G (p.Pro781Arg)
c.1102C>G
c.2522C>G (p.Pro841Arg)
c.2456C>G (p.Pro819Arg)
c.2516C>G (p.Pro839Arg)
c.2462C>G (p.Pro821Arg)
c.2387C>G (p.Pro796Arg)
c.1982C>G (p.Pro661Arg)
c.1340C>G (p.Pro447Arg)
n.2765C>G
10g.71695455C>TCA5544181CDH23c.2327C>T (p.Pro776Leu)
c.1758C>T
c.2342C>T (p.Pro781Leu)
c.1102C>T
c.2522C>T (p.Pro841Leu)
c.2456C>T (p.Pro819Leu)
c.2516C>T (p.Pro839Leu)
c.2462C>T (p.Pro821Leu)
c.2387C>T (p.Pro796Leu)
c.1982C>T (p.Pro661Leu)
c.1340C>T (p.Pro447Leu)
n.2765C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695455_71695457delinsCCACA1918830506CDH23c.2327_2329delinsCCA (p.Pro776=)
c.1758_1760delinsCCA
c.2342_2344delinsCCA (p.Pro781=)
c.1102_1104delinsCCA
c.2522_2524delinsCCA (p.Pro841=)
c.2456_2458delinsCCA (p.Pro819=)
c.2516_2518delinsCCA (p.Pro839=)
c.2462_2464delinsCCA (p.Pro821=)
c.2387_2389delinsCCA (p.Pro796=)
c.1982_1984delinsCCA (p.Pro661=)
c.1340_1342delinsCCA (p.Pro447=)
n.2765_2767delinsCCA
10g.71695456C>ACA470060521CDH23c.2328C>A (p.Pro776=)
c.1759C>A
c.2343C>A (p.Pro781=)
c.1103C>A
c.2523C>A (p.Pro841=)
c.2457C>A (p.Pro819=)
c.2517C>A (p.Pro839=)
c.2463C>A (p.Pro821=)
c.2388C>A (p.Pro796=)
c.1983C>A (p.Pro661=)
c.1341C>A (p.Pro447=)
n.2766C>A
 dbSNP
10g.71695456C=CA1918830507CDH23c.2328C= (p.Pro776=)
c.1759C=
c.2343C= (p.Pro781=)
c.1103C=
c.2523C= (p.Pro841=)
c.2457C= (p.Pro819=)
c.2517C= (p.Pro839=)
c.2463C= (p.Pro821=)
c.2388C= (p.Pro796=)
c.1983C= (p.Pro661=)
c.1341C= (p.Pro447=)
n.2766C=
10g.71695456C>GCA470060522CDH23c.2328C>G (p.Pro776=)
c.1759C>G
c.2343C>G (p.Pro781=)
c.1103C>G
c.2523C>G (p.Pro841=)
c.2457C>G (p.Pro819=)
c.2517C>G (p.Pro839=)
c.2463C>G (p.Pro821=)
c.2388C>G (p.Pro796=)
c.1983C>G (p.Pro661=)
c.1341C>G (p.Pro447=)
n.2766C>G
10g.71695456C>TCA470060523CDH23c.2328C>T (p.Pro776=)
c.1759C>T
c.2343C>T (p.Pro781=)
c.1103C>T
c.2523C>T (p.Pro841=)
c.2457C>T (p.Pro819=)
c.2517C>T (p.Pro839=)
c.2463C>T (p.Pro821=)
c.2388C>T (p.Pro796=)
c.1983C>T (p.Pro661=)
c.1341C>T (p.Pro447=)
n.2766C>T
10g.71695457_71695458delCA5544182CDH23c.2329_2330del (p.Thr777ValfsTer19)
c.1760_1761del
c.2344_2345del (p.Thr782ValfsTer19)
c.1104_1105del
c.2524_2525del (p.Thr842ValfsTer19)
c.2458_2459del (p.Thr820ValfsTer19)
c.2518_2519del (p.Thr840ValfsTer19)
c.2464_2465del (p.Thr822ValfsTer19)
c.2389_2390del (p.Thr797ValfsTer19)
c.1984_1985del (p.Thr662ValfsTer19)
c.1342_1343del (p.Thr448ValfsTer19)
n.2767_2768del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695457A=CA1918830508CDH23c.2329A= (p.Thr777=)
c.1760A=
c.2344A= (p.Thr782=)
c.1104A=
c.2524A= (p.Thr842=)
c.2458A= (p.Thr820=)
c.2518A= (p.Thr840=)
c.2464A= (p.Thr822=)
c.2389A= (p.Thr797=)
c.1984A= (p.Thr662=)
c.1342A= (p.Thr448=)
n.2767A=
10g.71695457A>CCA377136367CDH23c.2329A>C (p.Thr777Pro)
c.1760A>C
c.2344A>C (p.Thr782Pro)
c.1104A>C
c.2524A>C (p.Thr842Pro)
c.2458A>C (p.Thr820Pro)
c.2518A>C (p.Thr840Pro)
c.2464A>C (p.Thr822Pro)
c.2389A>C (p.Thr797Pro)
c.1984A>C (p.Thr662Pro)
c.1342A>C (p.Thr448Pro)
n.2767A>C
 dbSNP gnomAD v2 gnomAD v4
10g.71695457A>GCA377136375CDH23c.2329A>G (p.Thr777Ala)
c.1760A>G
c.2344A>G (p.Thr782Ala)
c.1104A>G
c.2524A>G (p.Thr842Ala)
c.2458A>G (p.Thr820Ala)
c.2518A>G (p.Thr840Ala)
c.2464A>G (p.Thr822Ala)
c.2389A>G (p.Thr797Ala)
c.1984A>G (p.Thr662Ala)
c.1342A>G (p.Thr448Ala)
n.2767A>G
10g.71695457A>TCA377136378CDH23c.2329A>T (p.Thr777Ser)
c.1760A>T
c.2344A>T (p.Thr782Ser)
c.1104A>T
c.2524A>T (p.Thr842Ser)
c.2458A>T (p.Thr820Ser)
c.2518A>T (p.Thr840Ser)
c.2464A>T (p.Thr822Ser)
c.2389A>T (p.Thr797Ser)
c.1984A>T (p.Thr662Ser)
c.1342A>T (p.Thr448Ser)
n.2767A>T
10g.71695458C>ACA137322CDH23c.2330C>A (p.Thr777Lys)
c.1761C>A
c.2345C>A (p.Thr782Lys)
c.1105C>A
c.2525C>A (p.Thr842Lys)
c.2459C>A (p.Thr820Lys)
c.2519C>A (p.Thr840Lys)
c.2465C>A (p.Thr822Lys)
c.2390C>A (p.Thr797Lys)
c.1985C>A (p.Thr662Lys)
c.1343C>A (p.Thr448Lys)
n.2768C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695458C=CA1918830509CDH23c.2330C= (p.Thr777=)
c.1761C=
c.2345C= (p.Thr782=)
c.1105C=
c.2525C= (p.Thr842=)
c.2459C= (p.Thr820=)
c.2519C= (p.Thr840=)
c.2465C= (p.Thr822=)
c.2390C= (p.Thr797=)
c.1985C= (p.Thr662=)
c.1343C= (p.Thr448=)
n.2768C=
10g.71695458C>GCA377136381CDH23c.2330C>G (p.Thr777Arg)
c.1761C>G
c.2345C>G (p.Thr782Arg)
c.1105C>G
c.2525C>G (p.Thr842Arg)
c.2459C>G (p.Thr820Arg)
c.2519C>G (p.Thr840Arg)
c.2465C>G (p.Thr822Arg)
c.2390C>G (p.Thr797Arg)
c.1985C>G (p.Thr662Arg)
c.1343C>G (p.Thr448Arg)
n.2768C>G
10g.71695458C>TCA5544183CDH23c.2330C>T (p.Thr777Met)
c.1761C>T
c.2345C>T (p.Thr782Met)
c.1105C>T
c.2525C>T (p.Thr842Met)
c.2459C>T (p.Thr820Met)
c.2519C>T (p.Thr840Met)
c.2465C>T (p.Thr822Met)
c.2390C>T (p.Thr797Met)
c.1985C>T (p.Thr662Met)
c.1343C>T (p.Thr448Met)
n.2768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695459G>ACA5544184CDH23c.2331G>A (p.Thr777=)
c.1762G>A
c.2346G>A (p.Thr782=)
c.1106G>A
c.2526G>A (p.Thr842=)
c.2460G>A (p.Thr820=)
c.2520G>A (p.Thr840=)
c.2466G>A (p.Thr822=)
c.2391G>A (p.Thr797=)
c.1986G>A (p.Thr662=)
c.1344G>A (p.Thr448=)
n.2769G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695459G>CCA470060525CDH23c.2331G>C (p.Thr777=)
c.1762G>C
c.2346G>C (p.Thr782=)
c.1106G>C
c.2526G>C (p.Thr842=)
c.2460G>C (p.Thr820=)
c.2520G>C (p.Thr840=)
c.2466G>C (p.Thr822=)
c.2391G>C (p.Thr797=)
c.1986G>C (p.Thr662=)
c.1344G>C (p.Thr448=)
n.2769G>C
10g.71695459G=CA1918830510CDH23c.2331G= (p.Thr777=)
c.1762G=
c.2346G= (p.Thr782=)
c.1106G=
c.2526G= (p.Thr842=)
c.2460G= (p.Thr820=)
c.2520G= (p.Thr840=)
c.2466G= (p.Thr822=)
c.2391G= (p.Thr797=)
c.1986G= (p.Thr662=)
c.1344G= (p.Thr448=)
n.2769G=
10g.71695459G>TCA470060524CDH23c.2331G>T (p.Thr777=)
c.1762G>T
c.2346G>T (p.Thr782=)
c.1106G>T
c.2526G>T (p.Thr842=)
c.2460G>T (p.Thr820=)
c.2520G>T (p.Thr840=)
c.2466G>T (p.Thr822=)
c.2391G>T (p.Thr797=)
c.1986G>T (p.Thr662=)
c.1344G>T (p.Thr448=)
n.2769G>T
10g.71695460T>ACA377136384CDH23c.2332T>A (p.Trp778Arg)
c.1763T>A
c.2347T>A (p.Trp783Arg)
c.1107T>A
c.2527T>A (p.Trp843Arg)
c.2461T>A (p.Trp821Arg)
c.2521T>A (p.Trp841Arg)
c.2467T>A (p.Trp823Arg)
c.2392T>A (p.Trp798Arg)
c.1987T>A (p.Trp663Arg)
c.1345T>A (p.Trp449Arg)
n.2770T>A
10g.71695460T>CCA377136390CDH23c.2332T>C (p.Trp778Arg)
c.1763T>C
c.2347T>C (p.Trp783Arg)
c.1107T>C
c.2527T>C (p.Trp843Arg)
c.2461T>C (p.Trp821Arg)
c.2521T>C (p.Trp841Arg)
c.2467T>C (p.Trp823Arg)
c.2392T>C (p.Trp798Arg)
c.1987T>C (p.Trp663Arg)
c.1345T>C (p.Trp449Arg)
n.2770T>C
10g.71695460T>GCA377136393CDH23c.2332T>G (p.Trp778Gly)
c.1763T>G
c.2347T>G (p.Trp783Gly)
c.1107T>G
c.2527T>G (p.Trp843Gly)
c.2461T>G (p.Trp821Gly)
c.2521T>G (p.Trp841Gly)
c.2467T>G (p.Trp823Gly)
c.2392T>G (p.Trp798Gly)
c.1987T>G (p.Trp663Gly)
c.1345T>G (p.Trp449Gly)
n.2770T>G
10g.71695461G>ACA377136399CDH23c.2333G>A (p.Trp778Ter)
c.1764G>A
c.2348G>A (p.Trp783Ter)
c.1108G>A
c.2528G>A (p.Trp843Ter)
c.2462G>A (p.Trp821Ter)
c.2522G>A (p.Trp841Ter)
c.2468G>A (p.Trp823Ter)
c.2393G>A (p.Trp798Ter)
c.1988G>A (p.Trp663Ter)
c.1346G>A (p.Trp449Ter)
n.2771G>A
10g.71695461G>CCA377136403CDH23c.2333G>C (p.Trp778Ser)
c.1764G>C
c.2348G>C (p.Trp783Ser)
c.1108G>C
c.2528G>C (p.Trp843Ser)
c.2462G>C (p.Trp821Ser)
c.2522G>C (p.Trp841Ser)
c.2468G>C (p.Trp823Ser)
c.2393G>C (p.Trp798Ser)
c.1988G>C (p.Trp663Ser)
c.1346G>C (p.Trp449Ser)
n.2771G>C
10g.71695461G>TCA377136406CDH23c.2333G>T (p.Trp778Leu)
c.1764G>T
c.2348G>T (p.Trp783Leu)
c.1108G>T
c.2528G>T (p.Trp843Leu)
c.2462G>T (p.Trp821Leu)
c.2522G>T (p.Trp841Leu)
c.2468G>T (p.Trp823Leu)
c.2393G>T (p.Trp798Leu)
c.1988G>T (p.Trp663Leu)
c.1346G>T (p.Trp449Leu)
n.2771G>T
10g.71695462G>ACA209446355CDH23c.2334G>A (p.Trp778Ter)
c.1765G>A
c.2349G>A (p.Trp783Ter)
c.1109G>A
c.2529G>A (p.Trp843Ter)
c.2463G>A (p.Trp821Ter)
c.2523G>A (p.Trp841Ter)
c.2469G>A (p.Trp823Ter)
c.2394G>A (p.Trp798Ter)
c.1989G>A (p.Trp663Ter)
c.1347G>A (p.Trp449Ter)
n.2772G>A
 ClinVar dbSNP
10g.71695462G>CCA377136408CDH23c.2334G>C (p.Trp778Cys)
c.1765G>C
c.2349G>C (p.Trp783Cys)
c.1109G>C
c.2529G>C (p.Trp843Cys)
c.2463G>C (p.Trp821Cys)
c.2523G>C (p.Trp841Cys)
c.2469G>C (p.Trp823Cys)
c.2394G>C (p.Trp798Cys)
c.1989G>C (p.Trp663Cys)
c.1347G>C (p.Trp449Cys)
n.2772G>C
10g.71695462G=CA1918830511CDH23c.2334G= (p.Trp778=)
c.1765G=
c.2349G= (p.Trp783=)
c.1109G=
c.2529G= (p.Trp843=)
c.2463G= (p.Trp821=)
c.2523G= (p.Trp841=)
c.2469G= (p.Trp823=)
c.2394G= (p.Trp798=)
c.1989G= (p.Trp663=)
c.1347G= (p.Trp449=)
n.2772G=
10g.71695462G>TCA377136411CDH23c.2334G>T (p.Trp778Cys)
c.1765G>T
c.2349G>T (p.Trp783Cys)
c.1109G>T
c.2529G>T (p.Trp843Cys)
c.2463G>T (p.Trp821Cys)
c.2523G>T (p.Trp841Cys)
c.2469G>T (p.Trp823Cys)
c.2394G>T (p.Trp798Cys)
c.1989G>T (p.Trp663Cys)
c.1347G>T (p.Trp449Cys)
n.2772G>T
10g.71695463A>CCA377136415CDH23c.2335A>C (p.Lys779Gln)
c.1766A>C
c.2350A>C (p.Lys784Gln)
c.1110A>C
c.2530A>C (p.Lys844Gln)
c.2464A>C (p.Lys822Gln)
c.2524A>C (p.Lys842Gln)
c.2470A>C (p.Lys824Gln)
c.2395A>C (p.Lys799Gln)
c.1990A>C (p.Lys664Gln)
c.1348A>C (p.Lys450Gln)
n.2773A>C
10g.71695463A>GCA377136417CDH23c.2335A>G (p.Lys779Glu)
c.1766A>G
c.2350A>G (p.Lys784Glu)
c.1110A>G
c.2530A>G (p.Lys844Glu)
c.2464A>G (p.Lys822Glu)
c.2524A>G (p.Lys842Glu)
c.2470A>G (p.Lys824Glu)
c.2395A>G (p.Lys799Glu)
c.1990A>G (p.Lys664Glu)
c.1348A>G (p.Lys450Glu)
n.2773A>G
10g.71695463A>TCA377136421CDH23c.2335A>T (p.Lys779Ter)
c.1766A>T
c.2350A>T (p.Lys784Ter)
c.1110A>T
c.2530A>T (p.Lys844Ter)
c.2464A>T (p.Lys822Ter)
c.2524A>T (p.Lys842Ter)
c.2470A>T (p.Lys824Ter)
c.2395A>T (p.Lys799Ter)
c.1990A>T (p.Lys664Ter)
c.1348A>T (p.Lys450Ter)
n.2773A>T
10g.71695464A>CCA377136429CDH23c.2336A>C (p.Lys779Thr)
c.1767A>C
c.2351A>C (p.Lys784Thr)
c.1111A>C
c.2531A>C (p.Lys844Thr)
c.2465A>C (p.Lys822Thr)
c.2525A>C (p.Lys842Thr)
c.2471A>C (p.Lys824Thr)
c.2396A>C (p.Lys799Thr)
c.1991A>C (p.Lys664Thr)
c.1349A>C (p.Lys450Thr)
n.2774A>C
10g.71695464A>GCA377136426CDH23c.2336A>G (p.Lys779Arg)
c.1767A>G
c.2351A>G (p.Lys784Arg)
c.1111A>G
c.2531A>G (p.Lys844Arg)
c.2465A>G (p.Lys822Arg)
c.2525A>G (p.Lys842Arg)
c.2471A>G (p.Lys824Arg)
c.2396A>G (p.Lys799Arg)
c.1991A>G (p.Lys664Arg)
c.1349A>G (p.Lys450Arg)
n.2774A>G
10g.71695464A>TCA377136424CDH23c.2336A>T (p.Lys779Met)
c.1767A>T
c.2351A>T (p.Lys784Met)
c.1111A>T
c.2531A>T (p.Lys844Met)
c.2465A>T (p.Lys822Met)
c.2525A>T (p.Lys842Met)
c.2471A>T (p.Lys824Met)
c.2396A>T (p.Lys799Met)
c.1991A>T (p.Lys664Met)
c.1349A>T (p.Lys450Met)
n.2774A>T
10g.71695465_71695467delCA2740093010CDH23c.2337_2339del (p.Lys779_Asp780delinsAsn)
c.1768_1770del
c.2352_2354del (p.Lys784_Asp785delinsAsn)
c.1112_1114del
c.2532_2534del (p.Lys844_Asp845delinsAsn)
c.2466_2468del (p.Lys822_Asp823delinsAsn)
c.2526_2528del (p.Lys842_Asp843delinsAsn)
c.2472_2474del (p.Lys824_Asp825delinsAsn)
c.2397_2399del (p.Lys799_Asp800delinsAsn)
c.1992_1994del (p.Lys664_Asp665delinsAsn)
c.1350_1352del (p.Lys450_Asp451delinsAsn)
n.2775_2777del
 ClinVar
10g.71695465G>ACA137324CDH23c.2337G>A (p.Lys779=)
c.1768G>A
c.2352G>A (p.Lys784=)
c.1112G>A
c.2532G>A (p.Lys844=)
c.2466G>A (p.Lys822=)
c.2526G>A (p.Lys842=)
c.2472G>A (p.Lys824=)
c.2397G>A (p.Lys799=)
c.1992G>A (p.Lys664=)
c.1350G>A (p.Lys450=)
n.2775G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695465G>CCA377136432CDH23c.2337G>C (p.Lys779Asn)
c.1768G>C
c.2352G>C (p.Lys784Asn)
c.1112G>C
c.2532G>C (p.Lys844Asn)
c.2466G>C (p.Lys822Asn)
c.2526G>C (p.Lys842Asn)
c.2472G>C (p.Lys824Asn)
c.2397G>C (p.Lys799Asn)
c.1992G>C (p.Lys664Asn)
c.1350G>C (p.Lys450Asn)
n.2775G>C
10g.71695465G=CA1918830512CDH23c.2337G= (p.Lys779=)
c.1768G=
c.2352G= (p.Lys784=)
c.1112G=
c.2532G= (p.Lys844=)
c.2466G= (p.Lys822=)
c.2526G= (p.Lys842=)
c.2472G= (p.Lys824=)
c.2397G= (p.Lys799=)
c.1992G= (p.Lys664=)
c.1350G= (p.Lys450=)
n.2775G=
10g.71695465G>TCA377136435CDH23c.2337G>T (p.Lys779Asn)
c.1768G>T
c.2352G>T (p.Lys784Asn)
c.1112G>T
c.2532G>T (p.Lys844Asn)
c.2466G>T (p.Lys822Asn)
c.2526G>T (p.Lys842Asn)
c.2472G>T (p.Lys824Asn)
c.2397G>T (p.Lys799Asn)
c.1992G>T (p.Lys664Asn)
c.1350G>T (p.Lys450Asn)
n.2775G>T
10g.71695466G>ACA377136438CDH23c.2338G>A (p.Asp780Asn)
c.1769G>A
c.2353G>A (p.Asp785Asn)
c.1113G>A
c.2533G>A (p.Asp845Asn)
c.2467G>A (p.Asp823Asn)
c.2527G>A (p.Asp843Asn)
c.2473G>A (p.Asp825Asn)
c.2398G>A (p.Asp800Asn)
c.1993G>A (p.Asp665Asn)
c.1351G>A (p.Asp451Asn)
n.2776G>A
10g.71695466G>CCA377136441CDH23c.2338G>C (p.Asp780His)
c.1769G>C
c.2353G>C (p.Asp785His)
c.1113G>C
c.2533G>C (p.Asp845His)
c.2467G>C (p.Asp823His)
c.2527G>C (p.Asp843His)
c.2473G>C (p.Asp825His)
c.2398G>C (p.Asp800His)
c.1993G>C (p.Asp665His)
c.1351G>C (p.Asp451His)
n.2776G>C
 dbSNP
10g.71695466G=CA1918830513CDH23c.2338G= (p.Asp780=)
c.1769G=
c.2353G= (p.Asp785=)
c.1113G=
c.2533G= (p.Asp845=)
c.2467G= (p.Asp823=)
c.2527G= (p.Asp843=)
c.2473G= (p.Asp825=)
c.2398G= (p.Asp800=)
c.1993G= (p.Asp665=)
c.1351G= (p.Asp451=)
n.2776G=
10g.71695466G>TCA377136444CDH23c.2338G>T (p.Asp780Tyr)
c.1769G>T
c.2353G>T (p.Asp785Tyr)
c.1113G>T
c.2533G>T (p.Asp845Tyr)
c.2467G>T (p.Asp823Tyr)
c.2527G>T (p.Asp843Tyr)
c.2473G>T (p.Asp825Tyr)
c.2398G>T (p.Asp800Tyr)
c.1993G>T (p.Asp665Tyr)
c.1351G>T (p.Asp451Tyr)
n.2776G>T
10g.71695467A>CCA377136448CDH23c.2339A>C (p.Asp780Ala)
c.1770A>C
c.2354A>C (p.Asp785Ala)
c.1114A>C
c.2534A>C (p.Asp845Ala)
c.2468A>C (p.Asp823Ala)
c.2528A>C (p.Asp843Ala)
c.2474A>C (p.Asp825Ala)
c.2399A>C (p.Asp800Ala)
c.1994A>C (p.Asp665Ala)
c.1352A>C (p.Asp451Ala)
n.2777A>C
10g.71695467A>GCA377136450CDH23c.2339A>G (p.Asp780Gly)
c.1770A>G
c.2354A>G (p.Asp785Gly)
c.1114A>G
c.2534A>G (p.Asp845Gly)
c.2468A>G (p.Asp823Gly)
c.2528A>G (p.Asp843Gly)
c.2474A>G (p.Asp825Gly)
c.2399A>G (p.Asp800Gly)
c.1994A>G (p.Asp665Gly)
c.1352A>G (p.Asp451Gly)
n.2777A>G
10g.71695467A>TCA377136452CDH23c.2339A>T (p.Asp780Val)
c.1770A>T
c.2354A>T (p.Asp785Val)
c.1114A>T
c.2534A>T (p.Asp845Val)
c.2468A>T (p.Asp823Val)
c.2528A>T (p.Asp843Val)
c.2474A>T (p.Asp825Val)
c.2399A>T (p.Asp800Val)
c.1994A>T (p.Asp665Val)
c.1352A>T (p.Asp451Val)
n.2777A>T
10g.71695468C>ACA377136455CDH23c.2340C>A (p.Asp780Glu)
c.1771C>A
c.2355C>A (p.Asp785Glu)
c.1115C>A
c.2535C>A (p.Asp845Glu)
c.2469C>A (p.Asp823Glu)
c.2529C>A (p.Asp843Glu)
c.2475C>A (p.Asp825Glu)
c.2400C>A (p.Asp800Glu)
c.1995C>A (p.Asp665Glu)
c.1353C>A (p.Asp451Glu)
n.2778C>A
 gnomAD v4
10g.71695468C=CA1918830514CDH23c.2340C= (p.Asp780=)
c.1771C=
c.2355C= (p.Asp785=)
c.1115C=
c.2535C= (p.Asp845=)
c.2469C= (p.Asp823=)
c.2529C= (p.Asp843=)
c.2475C= (p.Asp825=)
c.2400C= (p.Asp800=)
c.1995C= (p.Asp665=)
c.1353C= (p.Asp451=)
n.2778C=
10g.71695468C>GCA377136458CDH23c.2340C>G (p.Asp780Glu)
c.1771C>G
c.2355C>G (p.Asp785Glu)
c.1115C>G
c.2535C>G (p.Asp845Glu)
c.2469C>G (p.Asp823Glu)
c.2529C>G (p.Asp843Glu)
c.2475C>G (p.Asp825Glu)
c.2400C>G (p.Asp800Glu)
c.1995C>G (p.Asp665Glu)
c.1353C>G (p.Asp451Glu)
n.2778C>G
10g.71695468C>TCA5544185CDH23c.2340C>T (p.Asp780=)
c.1771C>T
c.2355C>T (p.Asp785=)
c.1115C>T
c.2535C>T (p.Asp845=)
c.2469C>T (p.Asp823=)
c.2529C>T (p.Asp843=)
c.2475C>T (p.Asp825=)
c.2400C>T (p.Asp800=)
c.1995C>T (p.Asp665=)
c.1353C>T (p.Asp451=)
n.2778C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.71695469G>ACA182070CDH23c.2341G>A (p.Ala781Thr)
c.1772G>A
c.2356G>A (p.Ala786Thr)
c.1116G>A
c.2536G>A (p.Ala846Thr)
c.2470G>A (p.Ala824Thr)
c.2530G>A (p.Ala844Thr)
c.2476G>A (p.Ala826Thr)
c.2401G>A (p.Ala801Thr)
c.1996G>A (p.Ala666Thr)
c.1354G>A (p.Ala452Thr)
n.2779G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71695469G>CCA377136459CDH23c.2341G>C (p.Ala781Pro)
c.1772G>C
c.2356G>C (p.Ala786Pro)
c.1116G>C
c.2536G>C (p.Ala846Pro)
c.2470G>C (p.Ala824Pro)
c.2530G>C (p.Ala844Pro)
c.2476G>C (p.Ala826Pro)
c.2401G>C (p.Ala801Pro)
c.1996G>C (p.Ala666Pro)
c.1354G>C (p.Ala452Pro)
n.2779G>C
10g.71695469G=CA1918830515CDH23c.2341G= (p.Ala781=)
c.1772G=
c.2356G= (p.Ala786=)
c.1116G=
c.2536G= (p.Ala846=)
c.2470G= (p.Ala824=)
c.2530G= (p.Ala844=)
c.2476G= (p.Ala826=)
c.2401G= (p.Ala801=)
c.1996G= (p.Ala666=)
c.1354G= (p.Ala452=)
n.2779G=
10g.71695469G>TCA377136461CDH23c.2341G>T (p.Ala781Ser)
c.1772G>T
c.2356G>T (p.Ala786Ser)
c.1116G>T
c.2536G>T (p.Ala846Ser)
c.2470G>T (p.Ala824Ser)
c.2530G>T (p.Ala844Ser)
c.2476G>T (p.Ala826Ser)
c.2401G>T (p.Ala801Ser)
c.1996G>T (p.Ala666Ser)
c.1354G>T (p.Ala452Ser)
n.2779G>T
 gnomAD v4
10g.71695470C>ACA377136468CDH23c.2342C>A (p.Ala781Glu)
c.1773C>A
c.2357C>A (p.Ala786Glu)
c.1117C>A
c.2537C>A (p.Ala846Glu)
c.2471C>A (p.Ala824Glu)
c.2531C>A (p.Ala844Glu)
c.2477C>A (p.Ala826Glu)
c.2402C>A (p.Ala801Glu)
c.1997C>A (p.Ala666Glu)
c.1355C>A (p.Ala452Glu)
n.2780C>A
 dbSNP gnomAD v3 gnomAD v4
10g.71695470C=CA1918830516CDH23c.2342C= (p.Ala781=)
c.1773C=
c.2357C= (p.Ala786=)
c.1117C=
c.2537C= (p.Ala846=)
c.2471C= (p.Ala824=)
c.2531C= (p.Ala844=)
c.2477C= (p.Ala826=)
c.2402C= (p.Ala801=)
c.1997C= (p.Ala666=)
c.1355C= (p.Ala452=)
n.2780C=
10g.71695470C>GCA377136473CDH23c.2342C>G (p.Ala781Gly)
c.1773C>G
c.2357C>G (p.Ala786Gly)
c.1117C>G
c.2537C>G (p.Ala846Gly)
c.2471C>G (p.Ala824Gly)
c.2531C>G (p.Ala844Gly)
c.2477C>G (p.Ala826Gly)
c.2402C>G (p.Ala801Gly)
c.1997C>G (p.Ala666Gly)
c.1355C>G (p.Ala452Gly)
n.2780C>G
10g.71695470C>TCA209446364CDH23c.2342C>T (p.Ala781Val)
c.1773C>T
c.2357C>T (p.Ala786Val)
c.1117C>T
c.2537C>T (p.Ala846Val)
c.2471C>T (p.Ala824Val)
c.2531C>T (p.Ala844Val)
c.2477C>T (p.Ala826Val)
c.2402C>T (p.Ala801Val)
c.1997C>T (p.Ala666Val)
c.1355C>T (p.Ala452Val)
n.2780C>T
 dbSNP gnomAD v4
10g.71695471A>CCA470060526CDH23c.2343A>C (p.Ala781=)
c.1774A>C
c.2358A>C (p.Ala786=)
c.1118A>C
c.2538A>C (p.Ala846=)
c.2472A>C (p.Ala824=)
c.2532A>C (p.Ala844=)
c.2478A>C (p.Ala826=)
c.2403A>C (p.Ala801=)
c.1998A>C (p.Ala666=)
c.1356A>C (p.Ala452=)
n.2781A>C
10g.71695471A>GCA470060528CDH23c.2343A>G (p.Ala781=)
c.1774A>G
c.2358A>G (p.Ala786=)
c.1118A>G
c.2538A>G (p.Ala846=)
c.2472A>G (p.Ala824=)
c.2532A>G (p.Ala844=)
c.2478A>G (p.Ala826=)
c.2403A>G (p.Ala801=)
c.1998A>G (p.Ala666=)
c.1356A>G (p.Ala452=)
n.2781A>G
10g.71695471A>TCA470060527CDH23c.2343A>T (p.Ala781=)
c.1774A>T
c.2358A>T (p.Ala786=)
c.1118A>T
c.2538A>T (p.Ala846=)
c.2472A>T (p.Ala824=)
c.2532A>T (p.Ala844=)
c.2478A>T (p.Ala826=)
c.2403A>T (p.Ala801=)
c.1998A>T (p.Ala666=)
c.1356A>T (p.Ala452=)
n.2781A>T
10g.71695472C>ACA377136475CDH23c.2344C>A (p.Pro782Thr)
c.1775C>A
c.2359C>A (p.Pro787Thr)
c.1119C>A
c.2539C>A (p.Pro847Thr)
c.2473C>A (p.Pro825Thr)
c.2533C>A (p.Pro845Thr)
c.2479C>A (p.Pro827Thr)
c.2404C>A (p.Pro802Thr)
c.1999C>A (p.Pro667Thr)
c.1357C>A (p.Pro453Thr)
n.2782C>A
 dbSNP gnomAD v4
10g.71695472C=CA1918830517CDH23c.2344C= (p.Pro782=)
c.1775C=
c.2359C= (p.Pro787=)
c.1119C=
c.2539C= (p.Pro847=)
c.2473C= (p.Pro825=)
c.2533C= (p.Pro845=)
c.2479C= (p.Pro827=)
c.2404C= (p.Pro802=)
c.1999C= (p.Pro667=)
c.1357C= (p.Pro453=)
n.2782C=
10g.71695472C>GCA377136478CDH23c.2344C>G (p.Pro782Ala)
c.1775C>G
c.2359C>G (p.Pro787Ala)
c.1119C>G
c.2539C>G (p.Pro847Ala)
c.2473C>G (p.Pro825Ala)
c.2533C>G (p.Pro845Ala)
c.2479C>G (p.Pro827Ala)
c.2404C>G (p.Pro802Ala)
c.1999C>G (p.Pro667Ala)
c.1357C>G (p.Pro453Ala)
n.2782C>G
10g.71695472C>TCA377136480CDH23c.2344C>T (p.Pro782Ser)
c.1775C>T
c.2359C>T (p.Pro787Ser)
c.1119C>T
c.2539C>T (p.Pro847Ser)
c.2473C>T (p.Pro825Ser)
c.2533C>T (p.Pro845Ser)
c.2479C>T (p.Pro827Ser)
c.2404C>T (p.Pro802Ser)
c.1999C>T (p.Pro667Ser)
c.1357C>T (p.Pro453Ser)
n.2782C>T
10g.71695473C>ACA377136482CDH23c.2345C>A (p.Pro782His)
c.1776C>A
c.2360C>A (p.Pro787His)
c.1120C>A
c.2540C>A (p.Pro847His)
c.2474C>A (p.Pro825His)
c.2534C>A (p.Pro845His)
c.2480C>A (p.Pro827His)
c.2405C>A (p.Pro802His)
c.2000C>A (p.Pro667His)
c.1358C>A (p.Pro453His)
n.2783C>A
10g.71695473C=CA1918830518CDH23c.2345C= (p.Pro782=)
c.1776C=
c.2360C= (p.Pro787=)
c.1120C=
c.2540C= (p.Pro847=)
c.2474C= (p.Pro825=)
c.2534C= (p.Pro845=)
c.2480C= (p.Pro827=)
c.2405C= (p.Pro802=)
c.2000C= (p.Pro667=)
c.1358C= (p.Pro453=)
n.2783C=
10g.71695473C>GCA5544186CDH23c.2345C>G (p.Pro782Arg)
c.1776C>G
c.2360C>G (p.Pro787Arg)
c.1120C>G
c.2540C>G (p.Pro847Arg)
c.2474C>G (p.Pro825Arg)
c.2534C>G (p.Pro845Arg)
c.2480C>G (p.Pro827Arg)
c.2405C>G (p.Pro802Arg)
c.2000C>G (p.Pro667Arg)
c.1358C>G (p.Pro453Arg)
n.2783C>G
 dbSNP ExAC gnomAD v2
10g.71695473C>TCA377136490CDH23c.2345C>T (p.Pro782Leu)
c.1776C>T
c.2360C>T (p.Pro787Leu)
c.1120C>T
c.2540C>T (p.Pro847Leu)
c.2474C>T (p.Pro825Leu)
c.2534C>T (p.Pro845Leu)
c.2480C>T (p.Pro827Leu)
c.2405C>T (p.Pro802Leu)
c.2000C>T (p.Pro667Leu)
c.1358C>T (p.Pro453Leu)
n.2783C>T
 gnomAD v4
10g.71695474C>ACA470060529CDH23c.2346C>A (p.Pro782=)
c.1777C>A
c.2361C>A (p.Pro787=)
c.1121C>A
c.2541C>A (p.Pro847=)
c.2475C>A (p.Pro825=)
c.2535C>A (p.Pro845=)
c.2481C>A (p.Pro827=)
c.2406C>A (p.Pro802=)
c.2001C>A (p.Pro667=)
c.1359C>A (p.Pro453=)
n.2784C>A
10g.71695474C=CA1918830519CDH23c.2346C= (p.Pro782=)
c.1777C=
c.2361C= (p.Pro787=)
c.1121C=
c.2541C= (p.Pro847=)
c.2475C= (p.Pro825=)
c.2535C= (p.Pro845=)
c.2481C= (p.Pro827=)
c.2406C= (p.Pro802=)
c.2001C= (p.Pro667=)
c.1359C= (p.Pro453=)
n.2784C=
10g.71695474C>GCA470060530CDH23c.2346C>G (p.Pro782=)
c.1777C>G
c.2361C>G (p.Pro787=)
c.1121C>G
c.2541C>G (p.Pro847=)
c.2475C>G (p.Pro825=)
c.2535C>G (p.Pro845=)
c.2481C>G (p.Pro827=)
c.2406C>G (p.Pro802=)
c.2001C>G (p.Pro667=)
c.1359C>G (p.Pro453=)
n.2784C>G
10g.71695474C>TCA470060531CDH23c.2346C>T (p.Pro782=)
c.1777C>T
c.2361C>T (p.Pro787=)
c.1121C>T
c.2541C>T (p.Pro847=)
c.2475C>T (p.Pro825=)
c.2535C>T (p.Pro845=)
c.2481C>T (p.Pro827=)
c.2406C>T (p.Pro802=)
c.2001C>T (p.Pro667=)
c.1359C>T (p.Pro453=)
n.2784C>T
 dbSNP
10g.71695475T>ACA377136493CDH23c.2347T>A (p.Tyr783Asn)
c.1778T>A
c.2362T>A (p.Tyr788Asn)
c.1122T>A
c.2542T>A (p.Tyr848Asn)
c.2476T>A (p.Tyr826Asn)
c.2536T>A (p.Tyr846Asn)
c.2482T>A (p.Tyr828Asn)
c.2407T>A (p.Tyr803Asn)
c.2002T>A (p.Tyr668Asn)
c.1360T>A (p.Tyr454Asn)
n.2785T>A
10g.71695475T>CCA377136494CDH23c.2347T>C (p.Tyr783His)
c.1778T>C
c.2362T>C (p.Tyr788His)
c.1122T>C
c.2542T>C (p.Tyr848His)
c.2476T>C (p.Tyr826His)
c.2536T>C (p.Tyr846His)
c.2482T>C (p.Tyr828His)
c.2407T>C (p.Tyr803His)
c.2002T>C (p.Tyr668His)
c.1360T>C (p.Tyr454His)
n.2785T>C
10g.71695475T>GCA377136495CDH23c.2347T>G (p.Tyr783Asp)
c.1778T>G
c.2362T>G (p.Tyr788Asp)
c.1122T>G
c.2542T>G (p.Tyr848Asp)
c.2476T>G (p.Tyr826Asp)
c.2536T>G (p.Tyr846Asp)
c.2482T>G (p.Tyr828Asp)
c.2407T>G (p.Tyr803Asp)
c.2002T>G (p.Tyr668Asp)
c.1360T>G (p.Tyr454Asp)
n.2785T>G
10g.71695476A>CCA377136498CDH23c.2348A>C (p.Tyr783Ser)
c.1779A>C
c.2363A>C (p.Tyr788Ser)
c.1123A>C
c.2543A>C (p.Tyr848Ser)
c.2477A>C (p.Tyr826Ser)
c.2537A>C (p.Tyr846Ser)
c.2483A>C (p.Tyr828Ser)
c.2408A>C (p.Tyr803Ser)
c.2003A>C (p.Tyr668Ser)
c.1361A>C (p.Tyr454Ser)
n.2786A>C
10g.71695476A>GCA377136500CDH23c.2348A>G (p.Tyr783Cys)
c.1779A>G
c.2363A>G (p.Tyr788Cys)
c.1123A>G
c.2543A>G (p.Tyr848Cys)
c.2477A>G (p.Tyr826Cys)
c.2537A>G (p.Tyr846Cys)
c.2483A>G (p.Tyr828Cys)
c.2408A>G (p.Tyr803Cys)
c.2003A>G (p.Tyr668Cys)
c.1361A>G (p.Tyr454Cys)
n.2786A>G
10g.71695476A>TCA377136497CDH23c.2348A>T (p.Tyr783Phe)
c.1779A>T
c.2363A>T (p.Tyr788Phe)
c.1123A>T
c.2543A>T (p.Tyr848Phe)
c.2477A>T (p.Tyr826Phe)
c.2537A>T (p.Tyr846Phe)
c.2483A>T (p.Tyr828Phe)
c.2408A>T (p.Tyr803Phe)
c.2003A>T (p.Tyr668Phe)
c.1361A>T (p.Tyr454Phe)
n.2786A>T
10g.71695477C>ACA377136507CDH23c.2349C>A (p.Tyr783Ter)
c.1780C>A
c.2364C>A (p.Tyr788Ter)
c.1124C>A
c.2544C>A (p.Tyr848Ter)
c.2478C>A (p.Tyr826Ter)
c.2538C>A (p.Tyr846Ter)
c.2484C>A (p.Tyr828Ter)
c.2409C>A (p.Tyr803Ter)
c.2004C>A (p.Tyr668Ter)
c.1362C>A (p.Tyr454Ter)
n.2787C>A
10g.71695477C=CA1918830520CDH23c.2349C= (p.Tyr783=)
c.1780C=
c.2364C= (p.Tyr788=)
c.1124C=
c.2544C= (p.Tyr848=)
c.2478C= (p.Tyr826=)
c.2538C= (p.Tyr846=)
c.2484C= (p.Tyr828=)
c.2409C= (p.Tyr803=)
c.2004C= (p.Tyr668=)
c.1362C= (p.Tyr454=)
n.2787C=
10g.71695477C>GCA377136502CDH23c.2349C>G (p.Tyr783Ter)
c.1780C>G
c.2364C>G (p.Tyr788Ter)
c.1124C>G
c.2544C>G (p.Tyr848Ter)
c.2478C>G (p.Tyr826Ter)
c.2538C>G (p.Tyr846Ter)
c.2484C>G (p.Tyr828Ter)
c.2409C>G (p.Tyr803Ter)
c.2004C>G (p.Tyr668Ter)
c.1362C>G (p.Tyr454Ter)
n.2787C>G
 ClinVar dbSNP
10g.71695477C>TCA470060532CDH23c.2349C>T (p.Tyr783=)
c.1780C>T
c.2364C>T (p.Tyr788=)
c.1124C>T
c.2544C>T (p.Tyr848=)
c.2478C>T (p.Tyr826=)
c.2538C>T (p.Tyr846=)
c.2484C>T (p.Tyr828=)
c.2409C>T (p.Tyr803=)
c.2004C>T (p.Tyr668=)
c.1362C>T (p.Tyr454=)
n.2787C>T
 ClinVar dbSNP
10g.71695478T>ACA377136514CDH23c.2350T>A (p.Tyr784Asn)
c.1781T>A
c.2365T>A (p.Tyr789Asn)
c.1125T>A
c.2545T>A (p.Tyr849Asn)
c.2479T>A (p.Tyr827Asn)
c.2539T>A (p.Tyr847Asn)
c.2485T>A (p.Tyr829Asn)
c.2410T>A (p.Tyr804Asn)
c.2005T>A (p.Tyr669Asn)
c.1363T>A (p.Tyr455Asn)
n.2788T>A
10g.71695478T>CCA377136511CDH23c.2350T>C (p.Tyr784His)
c.1781T>C
c.2365T>C (p.Tyr789His)
c.1125T>C
c.2545T>C (p.Tyr849His)
c.2479T>C (p.Tyr827His)
c.2539T>C (p.Tyr847His)
c.2485T>C (p.Tyr829His)
c.2410T>C (p.Tyr804His)
c.2005T>C (p.Tyr669His)
c.1363T>C (p.Tyr455His)
n.2788T>C
10g.71695478T>GCA377136512CDH23c.2350T>G (p.Tyr784Asp)
c.1781T>G
c.2365T>G (p.Tyr789Asp)
c.1125T>G
c.2545T>G (p.Tyr849Asp)
c.2479T>G (p.Tyr827Asp)
c.2539T>G (p.Tyr847Asp)
c.2485T>G (p.Tyr829Asp)
c.2410T>G (p.Tyr804Asp)
c.2005T>G (p.Tyr669Asp)
c.1363T>G (p.Tyr455Asp)
n.2788T>G
10g.71695479A>CCA377136517CDH23c.2351A>C (p.Tyr784Ser)
c.1782A>C
c.2366A>C (p.Tyr789Ser)
c.1126A>C
c.2546A>C (p.Tyr849Ser)
c.2480A>C (p.Tyr827Ser)
c.2540A>C (p.Tyr847Ser)
c.2486A>C (p.Tyr829Ser)
c.2411A>C (p.Tyr804Ser)
c.2006A>C (p.Tyr669Ser)
c.1364A>C (p.Tyr455Ser)
n.2789A>C
10g.71695479A>GCA377136519CDH23c.2351A>G (p.Tyr784Cys)
c.1782A>G
c.2366A>G (p.Tyr789Cys)
c.1126A>G
c.2546A>G (p.Tyr849Cys)
c.2480A>G (p.Tyr827Cys)
c.2540A>G (p.Tyr847Cys)
c.2486A>G (p.Tyr829Cys)
c.2411A>G (p.Tyr804Cys)
c.2006A>G (p.Tyr669Cys)
c.1364A>G (p.Tyr455Cys)
n.2789A>G
10g.71695479A>TCA377136522CDH23c.2351A>T (p.Tyr784Phe)
c.1782A>T
c.2366A>T (p.Tyr789Phe)
c.1126A>T
c.2546A>T (p.Tyr849Phe)
c.2480A>T (p.Tyr827Phe)
c.2540A>T (p.Tyr847Phe)
c.2486A>T (p.Tyr829Phe)
c.2411A>T (p.Tyr804Phe)
c.2006A>T (p.Tyr669Phe)
c.1364A>T (p.Tyr455Phe)
n.2789A>T
10g.71695480C>ACA377136525CDH23c.2352C>A (p.Tyr784Ter)
c.1783C>A
c.2367C>A (p.Tyr789Ter)
c.1127C>A
c.2547C>A (p.Tyr849Ter)
c.2481C>A (p.Tyr827Ter)
c.2541C>A (p.Tyr847Ter)
c.2487C>A (p.Tyr829Ter)
c.2412C>A (p.Tyr804Ter)
c.2007C>A (p.Tyr669Ter)
c.1365C>A (p.Tyr455Ter)
n.2790C>A
10g.71695480C>GCA377136527CDH23c.2352C>G (p.Tyr784Ter)
c.1783C>G
c.2367C>G (p.Tyr789Ter)
c.1127C>G
c.2547C>G (p.Tyr849Ter)
c.2481C>G (p.Tyr827Ter)
c.2541C>G (p.Tyr847Ter)
c.2487C>G (p.Tyr829Ter)
c.2412C>G (p.Tyr804Ter)
c.2007C>G (p.Tyr669Ter)
c.1365C>G (p.Tyr455Ter)
n.2790C>G
10g.71695480C>TCA470060533CDH23c.2352C>T (p.Tyr784=)
c.1783C>T
c.2367C>T (p.Tyr789=)
c.1127C>T
c.2547C>T (p.Tyr849=)
c.2481C>T (p.Tyr827=)
c.2541C>T (p.Tyr847=)
c.2487C>T (p.Tyr829=)
c.2412C>T (p.Tyr804=)
c.2007C>T (p.Tyr669=)
c.1365C>T (p.Tyr455=)
n.2790C>T
10g.71695481A=CA1918830521CDH23c.2353A= (p.Ile785=)
c.1784A=
c.2368A= (p.Ile790=)
c.1128A=
c.2548A= (p.Ile850=)
c.2482A= (p.Ile828=)
c.2542A= (p.Ile848=)
c.2488A= (p.Ile830=)
c.2413A= (p.Ile805=)
c.2008A= (p.Ile670=)
c.1366A= (p.Ile456=)
n.2791A=
10g.71695481A>CCA10628813CDH23c.2353A>C (p.Ile785Leu)
c.1784A>C
c.2368A>C (p.Ile790Leu)
c.1128A>C
c.2548A>C (p.Ile850Leu)
c.2482A>C (p.Ile828Leu)
c.2542A>C (p.Ile848Leu)
c.2488A>C (p.Ile830Leu)
c.2413A>C (p.Ile805Leu)
c.2008A>C (p.Ile670Leu)
c.1366A>C (p.Ile456Leu)
n.2791A>C
 ClinVar dbSNP gnomAD v4
10g.71695481A>GCA377136533CDH23c.2353A>G (p.Ile785Val)
c.1784A>G
c.2368A>G (p.Ile790Val)
c.1128A>G
c.2548A>G (p.Ile850Val)
c.2482A>G (p.Ile828Val)
c.2542A>G (p.Ile848Val)
c.2488A>G (p.Ile830Val)
c.2413A>G (p.Ile805Val)
c.2008A>G (p.Ile670Val)
c.1366A>G (p.Ile456Val)
n.2791A>G
10g.71695481A>TCA377136530CDH23c.2353A>T (p.Ile785Phe)
c.1784A>T
c.2368A>T (p.Ile790Phe)
c.1128A>T
c.2548A>T (p.Ile850Phe)
c.2482A>T (p.Ile828Phe)
c.2542A>T (p.Ile848Phe)
c.2488A>T (p.Ile830Phe)
c.2413A>T (p.Ile805Phe)
c.2008A>T (p.Ile670Phe)
c.1366A>T (p.Ile456Phe)
n.2791A>T
10g.71695482T>ACA377136539CDH23c.2354T>A (p.Ile785Asn)
c.1785T>A
c.2369T>A (p.Ile790Asn)
c.1129T>A
c.2549T>A (p.Ile850Asn)
c.2483T>A (p.Ile828Asn)
c.2543T>A (p.Ile848Asn)
c.2489T>A (p.Ile830Asn)
c.2414T>A (p.Ile805Asn)
c.2009T>A (p.Ile670Asn)
c.1367T>A (p.Ile456Asn)
n.2792T>A
10g.71695482T>CCA377136541CDH23c.2354T>C (p.Ile785Thr)
c.1785T>C
c.2369T>C (p.Ile790Thr)
c.1129T>C
c.2549T>C (p.Ile850Thr)
c.2483T>C (p.Ile828Thr)
c.2543T>C (p.Ile848Thr)
c.2489T>C (p.Ile830Thr)
c.2414T>C (p.Ile805Thr)
c.2009T>C (p.Ile670Thr)
c.1367T>C (p.Ile456Thr)
n.2792T>C
10g.71695482T>GCA377136545CDH23c.2354T>G (p.Ile785Ser)
c.1785T>G
c.2369T>G (p.Ile790Ser)
c.1129T>G
c.2549T>G (p.Ile850Ser)
c.2483T>G (p.Ile828Ser)
c.2543T>G (p.Ile848Ser)
c.2489T>G (p.Ile830Ser)
c.2414T>G (p.Ile805Ser)
c.2009T>G (p.Ile670Ser)
c.1367T>G (p.Ile456Ser)
n.2792T>G
10g.71695483C>ACA470060534CDH23c.2355C>A (p.Ile785=)
c.1786C>A
c.2370C>A (p.Ile790=)
c.1130C>A
c.2550C>A (p.Ile850=)
c.2484C>A (p.Ile828=)
c.2544C>A (p.Ile848=)
c.2490C>A (p.Ile830=)
c.2415C>A (p.Ile805=)
c.2010C>A (p.Ile670=)
c.1368C>A (p.Ile456=)
n.2793C>A
10g.71695483C>GCA377136547CDH23c.2355C>G (p.Ile785Met)
c.1786C>G
c.2370C>G (p.Ile790Met)
c.1130C>G
c.2550C>G (p.Ile850Met)
c.2484C>G (p.Ile828Met)
c.2544C>G (p.Ile848Met)
c.2490C>G (p.Ile830Met)
c.2415C>G (p.Ile805Met)
c.2010C>G (p.Ile670Met)
c.1368C>G (p.Ile456Met)
n.2793C>G
10g.71695483C>TCA470060535CDH23c.2355C>T (p.Ile785=)
c.1786C>T
c.2370C>T (p.Ile790=)
c.1130C>T
c.2550C>T (p.Ile850=)
c.2484C>T (p.Ile828=)
c.2544C>T (p.Ile848=)
c.2490C>T (p.Ile830=)
c.2415C>T (p.Ile805=)
c.2010C>T (p.Ile670=)
c.1368C>T (p.Ile456=)
n.2793C>T
10g.71695484A=CA1918830522CDH23c.2356A= (p.Asn786=)
c.1787A=
c.2371A= (p.Asn791=)
c.1131A=
c.2551A= (p.Asn851=)
c.2485A= (p.Asn829=)
c.2545A= (p.Asn849=)
c.2491A= (p.Asn831=)
c.2416A= (p.Asn806=)
c.2011A= (p.Asn671=)
c.1369A= (p.Asn457=)
n.2794A=
10g.71695484A>CCA5544187CDH23c.2356A>C (p.Asn786His)
c.1787A>C
c.2371A>C (p.Asn791His)
c.1131A>C
c.2551A>C (p.Asn851His)
c.2485A>C (p.Asn829His)
c.2545A>C (p.Asn849His)
c.2491A>C (p.Asn831His)
c.2416A>C (p.Asn806His)
c.2011A>C (p.Asn671His)
c.1369A>C (p.Asn457His)
n.2794A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71695484A>GCA377136552CDH23c.2356A>G (p.Asn786Asp)
c.1787A>G
c.2371A>G (p.Asn791Asp)
c.1131A>G
c.2551A>G (p.Asn851Asp)
c.2485A>G (p.Asn829Asp)
c.2545A>G (p.Asn849Asp)
c.2491A>G (p.Asn831Asp)
c.2416A>G (p.Asn806Asp)
c.2011A>G (p.Asn671Asp)
c.1369A>G (p.Asn457Asp)
n.2794A>G
10g.71695484A>TCA377136550CDH23c.2356A>T (p.Asn786Tyr)
c.1787A>T
c.2371A>T (p.Asn791Tyr)
c.1131A>T
c.2551A>T (p.Asn851Tyr)
c.2485A>T (p.Asn829Tyr)
c.2545A>T (p.Asn849Tyr)
c.2491A>T (p.Asn831Tyr)
c.2416A>T (p.Asn806Tyr)
c.2011A>T (p.Asn671Tyr)
c.1369A>T (p.Asn457Tyr)
n.2794A>T
10g.71695484_71695508delinsAACCTGGTGGAGATGACCCCTCCAGCA1918830523CDH23c.2356_2380delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn786=)
c.1787_1811delinsAACCTGGTGGAGATGACCCCTCCAG
c.2371_2395delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn791=)
c.1131_1155delinsAACCTGGTGGAGATGACCCCTCCAG
c.2551_2575delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn851=)
c.2485_2509delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn829=)
c.2545_2569delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn849=)
c.2491_2515delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn831=)
c.2416_2440delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn806=)
c.2011_2035delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn671=)
c.1369_1393delinsAACCTGGTGGAGATGACCCCTCCAG (p.Asn457=)
n.2794_2818delinsAACCTGGTGGAGATGACCCCTCCAG

Number of alleles fetched