Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71798299G>ACA1918878360CDH23c.6830-55G>A (n.6830-55G>A)
c.763-55G>A (n.763-55G>A)
c.427-55G>A (n.427-55G>A)
c.6845-55G>A (n.6845-55G>A)
c.110-55G>A (n.110-55G>A)
n.366-55G>A
c.7025-55G>A (n.7025-55G>A)
c.6959-55G>A (n.6959-55G>A)
c.7022-55G>A (n.7022-55G>A)
c.7019-55G>A (n.7019-55G>A)
c.6965-55G>A (n.6965-55G>A)
c.6935-55G>A (n.6935-55G>A)
c.6890-55G>A (n.6890-55G>A)
c.6485-55G>A (n.6485-55G>A)
c.5843-55G>A (n.5843-55G>A)
c.3353-55G>A (n.3353-55G>A)
 dbSNP
10g.71798299G=CA1918878359CDH23c.6830-55G= (n.6830-55G=)
c.763-55G= (n.763-55G=)
c.427-55G= (n.427-55G=)
c.6845-55G= (n.6845-55G=)
c.110-55G= (n.110-55G=)
n.366-55G=
c.7025-55G= (n.7025-55G=)
c.6959-55G= (n.6959-55G=)
c.7022-55G= (n.7022-55G=)
c.7019-55G= (n.7019-55G=)
c.6965-55G= (n.6965-55G=)
c.6935-55G= (n.6935-55G=)
c.6890-55G= (n.6890-55G=)
c.6485-55G= (n.6485-55G=)
c.5843-55G= (n.5843-55G=)
c.3353-55G= (n.3353-55G=)
10g.71798299G>TCA2574455371CDH23c.6830-55G>T (n.6830-55G>T)
c.763-55G>T (n.763-55G>T)
c.427-55G>T (n.427-55G>T)
c.6845-55G>T (n.6845-55G>T)
c.110-55G>T (n.110-55G>T)
n.366-55G>T
c.7025-55G>T (n.7025-55G>T)
c.6959-55G>T (n.6959-55G>T)
c.7022-55G>T (n.7022-55G>T)
c.7019-55G>T (n.7019-55G>T)
c.6965-55G>T (n.6965-55G>T)
c.6935-55G>T (n.6935-55G>T)
c.6890-55G>T (n.6890-55G>T)
c.6485-55G>T (n.6485-55G>T)
c.5843-55G>T (n.5843-55G>T)
c.3353-55G>T (n.3353-55G>T)
10g.71798300G>ACA2574455374CDH23c.6830-54G>A (n.6830-54G>A)
c.763-54G>A (n.763-54G>A)
c.427-54G>A (n.427-54G>A)
c.6845-54G>A (n.6845-54G>A)
c.110-54G>A (n.110-54G>A)
n.366-54G>A
c.7025-54G>A (n.7025-54G>A)
c.6959-54G>A (n.6959-54G>A)
c.7022-54G>A (n.7022-54G>A)
c.7019-54G>A (n.7019-54G>A)
c.6965-54G>A (n.6965-54G>A)
c.6935-54G>A (n.6935-54G>A)
c.6890-54G>A (n.6890-54G>A)
c.6485-54G>A (n.6485-54G>A)
c.5843-54G>A (n.5843-54G>A)
c.3353-54G>A (n.3353-54G>A)
 gnomAD v4
10g.71798300G>CCA1918878362CDH23c.6830-54G>C (n.6830-54G>C)
c.763-54G>C (n.763-54G>C)
c.427-54G>C (n.427-54G>C)
c.6845-54G>C (n.6845-54G>C)
c.110-54G>C (n.110-54G>C)
n.366-54G>C
c.7025-54G>C (n.7025-54G>C)
c.6959-54G>C (n.6959-54G>C)
c.7022-54G>C (n.7022-54G>C)
c.7019-54G>C (n.7019-54G>C)
c.6965-54G>C (n.6965-54G>C)
c.6935-54G>C (n.6935-54G>C)
c.6890-54G>C (n.6890-54G>C)
c.6485-54G>C (n.6485-54G>C)
c.5843-54G>C (n.5843-54G>C)
c.3353-54G>C (n.3353-54G>C)
 dbSNP
10g.71798300G=CA1918878361CDH23c.6830-54G= (n.6830-54G=)
c.763-54G= (n.763-54G=)
c.427-54G= (n.427-54G=)
c.6845-54G= (n.6845-54G=)
c.110-54G= (n.110-54G=)
n.366-54G=
c.7025-54G= (n.7025-54G=)
c.6959-54G= (n.6959-54G=)
c.7022-54G= (n.7022-54G=)
c.7019-54G= (n.7019-54G=)
c.6965-54G= (n.6965-54G=)
c.6935-54G= (n.6935-54G=)
c.6890-54G= (n.6890-54G=)
c.6485-54G= (n.6485-54G=)
c.5843-54G= (n.5843-54G=)
c.3353-54G= (n.3353-54G=)
10g.71798301C>ACA2609587344CDH23c.6830-53C>A (n.6830-53C>A)
c.763-53C>A (n.763-53C>A)
c.427-53C>A (n.427-53C>A)
c.6845-53C>A (n.6845-53C>A)
c.110-53C>A (n.110-53C>A)
n.366-53C>A
c.7025-53C>A (n.7025-53C>A)
c.6959-53C>A (n.6959-53C>A)
c.7022-53C>A (n.7022-53C>A)
c.7019-53C>A (n.7019-53C>A)
c.6965-53C>A (n.6965-53C>A)
c.6935-53C>A (n.6935-53C>A)
c.6890-53C>A (n.6890-53C>A)
c.6485-53C>A (n.6485-53C>A)
c.5843-53C>A (n.5843-53C>A)
c.3353-53C>A (n.3353-53C>A)
 gnomAD v4
10g.71798301C=CA1918878363CDH23c.6830-53C= (n.6830-53C=)
c.763-53C= (n.763-53C=)
c.427-53C= (n.427-53C=)
c.6845-53C= (n.6845-53C=)
c.110-53C= (n.110-53C=)
n.366-53C=
c.7025-53C= (n.7025-53C=)
c.6959-53C= (n.6959-53C=)
c.7022-53C= (n.7022-53C=)
c.7019-53C= (n.7019-53C=)
c.6965-53C= (n.6965-53C=)
c.6935-53C= (n.6935-53C=)
c.6890-53C= (n.6890-53C=)
c.6485-53C= (n.6485-53C=)
c.5843-53C= (n.5843-53C=)
c.3353-53C= (n.3353-53C=)
10g.71798301C>GCA1918878364CDH23c.6830-53C>G (n.6830-53C>G)
c.763-53C>G (n.763-53C>G)
c.427-53C>G (n.427-53C>G)
c.6845-53C>G (n.6845-53C>G)
c.110-53C>G (n.110-53C>G)
n.366-53C>G
c.7025-53C>G (n.7025-53C>G)
c.6959-53C>G (n.6959-53C>G)
c.7022-53C>G (n.7022-53C>G)
c.7019-53C>G (n.7019-53C>G)
c.6965-53C>G (n.6965-53C>G)
c.6935-53C>G (n.6935-53C>G)
c.6890-53C>G (n.6890-53C>G)
c.6485-53C>G (n.6485-53C>G)
c.5843-53C>G (n.5843-53C>G)
c.3353-53C>G (n.3353-53C>G)
 dbSNP
10g.71798301C>TCA2574455375CDH23c.6830-53C>T (n.6830-53C>T)
c.763-53C>T (n.763-53C>T)
c.427-53C>T (n.427-53C>T)
c.6845-53C>T (n.6845-53C>T)
c.110-53C>T (n.110-53C>T)
n.366-53C>T
c.7025-53C>T (n.7025-53C>T)
c.6959-53C>T (n.6959-53C>T)
c.7022-53C>T (n.7022-53C>T)
c.7019-53C>T (n.7019-53C>T)
c.6965-53C>T (n.6965-53C>T)
c.6935-53C>T (n.6935-53C>T)
c.6890-53C>T (n.6890-53C>T)
c.6485-53C>T (n.6485-53C>T)
c.5843-53C>T (n.5843-53C>T)
c.3353-53C>T (n.3353-53C>T)
 gnomAD v4
10g.71798303delCA2609587341CDH23c.6830-51del (n.6830-51del)
c.763-51del (n.763-51del)
c.427-51del (n.427-51del)
c.6845-51del (n.6845-51del)
c.110-51del (n.110-51del)
n.366-51del
c.7025-51del (n.7025-51del)
c.6959-51del (n.6959-51del)
c.7022-51del (n.7022-51del)
c.7019-51del (n.7019-51del)
c.6965-51del (n.6965-51del)
c.6935-51del (n.6935-51del)
c.6890-51del (n.6890-51del)
c.6485-51del (n.6485-51del)
c.5843-51del (n.5843-51del)
c.3353-51del (n.3353-51del)
 gnomAD v4
10g.71798302C>ACA2574455377CDH23c.6830-52C>A (n.6830-52C>A)
c.763-52C>A (n.763-52C>A)
c.427-52C>A (n.427-52C>A)
c.6845-52C>A (n.6845-52C>A)
c.110-52C>A (n.110-52C>A)
n.366-52C>A
c.7025-52C>A (n.7025-52C>A)
c.6959-52C>A (n.6959-52C>A)
c.7022-52C>A (n.7022-52C>A)
c.7019-52C>A (n.7019-52C>A)
c.6965-52C>A (n.6965-52C>A)
c.6935-52C>A (n.6935-52C>A)
c.6890-52C>A (n.6890-52C>A)
c.6485-52C>A (n.6485-52C>A)
c.5843-52C>A (n.5843-52C>A)
c.3353-52C>A (n.3353-52C>A)
 gnomAD v4
10g.71798302C=CA1918878365CDH23c.6830-52C= (n.6830-52C=)
c.763-52C= (n.763-52C=)
c.427-52C= (n.427-52C=)
c.6845-52C= (n.6845-52C=)
c.110-52C= (n.110-52C=)
n.366-52C=
c.7025-52C= (n.7025-52C=)
c.6959-52C= (n.6959-52C=)
c.7022-52C= (n.7022-52C=)
c.7019-52C= (n.7019-52C=)
c.6965-52C= (n.6965-52C=)
c.6935-52C= (n.6935-52C=)
c.6890-52C= (n.6890-52C=)
c.6485-52C= (n.6485-52C=)
c.5843-52C= (n.5843-52C=)
c.3353-52C= (n.3353-52C=)
10g.71798302C>TCA668112334CDH23c.6830-52C>T (n.6830-52C>T)
c.763-52C>T (n.763-52C>T)
c.427-52C>T (n.427-52C>T)
c.6845-52C>T (n.6845-52C>T)
c.110-52C>T (n.110-52C>T)
n.366-52C>T
c.7025-52C>T (n.7025-52C>T)
c.6959-52C>T (n.6959-52C>T)
c.7022-52C>T (n.7022-52C>T)
c.7019-52C>T (n.7019-52C>T)
c.6965-52C>T (n.6965-52C>T)
c.6935-52C>T (n.6935-52C>T)
c.6890-52C>T (n.6890-52C>T)
c.6485-52C>T (n.6485-52C>T)
c.5843-52C>T (n.5843-52C>T)
c.3353-52C>T (n.3353-52C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.71798303C>ACA2609587352CDH23c.6830-51C>A (n.6830-51C>A)
c.763-51C>A (n.763-51C>A)
c.427-51C>A (n.427-51C>A)
c.6845-51C>A (n.6845-51C>A)
c.110-51C>A (n.110-51C>A)
n.366-51C>A
c.7025-51C>A (n.7025-51C>A)
c.6959-51C>A (n.6959-51C>A)
c.7022-51C>A (n.7022-51C>A)
c.7019-51C>A (n.7019-51C>A)
c.6965-51C>A (n.6965-51C>A)
c.6935-51C>A (n.6935-51C>A)
c.6890-51C>A (n.6890-51C>A)
c.6485-51C>A (n.6485-51C>A)
c.5843-51C>A (n.5843-51C>A)
c.3353-51C>A (n.3353-51C>A)
 gnomAD v4
10g.71798303C=CA1918878366CDH23c.6830-51C= (n.6830-51C=)
c.763-51C= (n.763-51C=)
c.427-51C= (n.427-51C=)
c.6845-51C= (n.6845-51C=)
c.110-51C= (n.110-51C=)
n.366-51C=
c.7025-51C= (n.7025-51C=)
c.6959-51C= (n.6959-51C=)
c.7022-51C= (n.7022-51C=)
c.7019-51C= (n.7019-51C=)
c.6965-51C= (n.6965-51C=)
c.6935-51C= (n.6935-51C=)
c.6890-51C= (n.6890-51C=)
c.6485-51C= (n.6485-51C=)
c.5843-51C= (n.5843-51C=)
c.3353-51C= (n.3353-51C=)
10g.71798303C>TCA209469472CDH23c.6830-51C>T (n.6830-51C>T)
c.763-51C>T (n.763-51C>T)
c.427-51C>T (n.427-51C>T)
c.6845-51C>T (n.6845-51C>T)
c.110-51C>T (n.110-51C>T)
n.366-51C>T
c.7025-51C>T (n.7025-51C>T)
c.6959-51C>T (n.6959-51C>T)
c.7022-51C>T (n.7022-51C>T)
c.7019-51C>T (n.7019-51C>T)
c.6965-51C>T (n.6965-51C>T)
c.6935-51C>T (n.6935-51C>T)
c.6890-51C>T (n.6890-51C>T)
c.6485-51C>T (n.6485-51C>T)
c.5843-51C>T (n.5843-51C>T)
c.3353-51C>T (n.3353-51C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798304A=CA1918878367CDH23c.6830-50A= (n.6830-50A=)
c.763-50A= (n.763-50A=)
c.427-50A= (n.427-50A=)
c.6845-50A= (n.6845-50A=)
c.110-50A= (n.110-50A=)
n.366-50A=
c.7025-50A= (n.7025-50A=)
c.6959-50A= (n.6959-50A=)
c.7022-50A= (n.7022-50A=)
c.7019-50A= (n.7019-50A=)
c.6965-50A= (n.6965-50A=)
c.6935-50A= (n.6935-50A=)
c.6890-50A= (n.6890-50A=)
c.6485-50A= (n.6485-50A=)
c.5843-50A= (n.5843-50A=)
c.3353-50A= (n.3353-50A=)
10g.71798304A>GCA668112341CDH23c.6830-50A>G (n.6830-50A>G)
c.763-50A>G (n.763-50A>G)
c.427-50A>G (n.427-50A>G)
c.6845-50A>G (n.6845-50A>G)
c.110-50A>G (n.110-50A>G)
n.366-50A>G
c.7025-50A>G (n.7025-50A>G)
c.6959-50A>G (n.6959-50A>G)
c.7022-50A>G (n.7022-50A>G)
c.7019-50A>G (n.7019-50A>G)
c.6965-50A>G (n.6965-50A>G)
c.6935-50A>G (n.6935-50A>G)
c.6890-50A>G (n.6890-50A>G)
c.6485-50A>G (n.6485-50A>G)
c.5843-50A>G (n.5843-50A>G)
c.3353-50A>G (n.3353-50A>G)
 dbSNP
10g.71798304A>TCA2788486753CDH23c.6830-50A>T (n.6830-50A>T)
c.763-50A>T (n.763-50A>T)
c.427-50A>T (n.427-50A>T)
c.6845-50A>T (n.6845-50A>T)
c.110-50A>T (n.110-50A>T)
n.366-50A>T
c.7025-50A>T (n.7025-50A>T)
c.6959-50A>T (n.6959-50A>T)
c.7022-50A>T (n.7022-50A>T)
c.7019-50A>T (n.7019-50A>T)
c.6965-50A>T (n.6965-50A>T)
c.6935-50A>T (n.6935-50A>T)
c.6890-50A>T (n.6890-50A>T)
c.6485-50A>T (n.6485-50A>T)
c.5843-50A>T (n.5843-50A>T)
c.3353-50A>T (n.3353-50A>T)
10g.71798306C>ACA2609587356CDH23c.6830-48C>A (n.6830-48C>A)
c.763-48C>A (n.763-48C>A)
c.427-48C>A (n.427-48C>A)
c.6845-48C>A (n.6845-48C>A)
c.110-48C>A (n.110-48C>A)
n.366-48C>A
c.7025-48C>A (n.7025-48C>A)
c.6959-48C>A (n.6959-48C>A)
c.7022-48C>A (n.7022-48C>A)
c.7019-48C>A (n.7019-48C>A)
c.6965-48C>A (n.6965-48C>A)
c.6935-48C>A (n.6935-48C>A)
c.6890-48C>A (n.6890-48C>A)
c.6485-48C>A (n.6485-48C>A)
c.5843-48C>A (n.5843-48C>A)
c.3353-48C>A (n.3353-48C>A)
 gnomAD v4
10g.71798306C>TCA2609587357CDH23c.6830-48C>T (n.6830-48C>T)
c.763-48C>T (n.763-48C>T)
c.427-48C>T (n.427-48C>T)
c.6845-48C>T (n.6845-48C>T)
c.110-48C>T (n.110-48C>T)
n.366-48C>T
c.7025-48C>T (n.7025-48C>T)
c.6959-48C>T (n.6959-48C>T)
c.7022-48C>T (n.7022-48C>T)
c.7019-48C>T (n.7019-48C>T)
c.6965-48C>T (n.6965-48C>T)
c.6935-48C>T (n.6935-48C>T)
c.6890-48C>T (n.6890-48C>T)
c.6485-48C>T (n.6485-48C>T)
c.5843-48C>T (n.5843-48C>T)
c.3353-48C>T (n.3353-48C>T)
 gnomAD v4
10g.71798307C>ACA2609587359CDH23c.6830-47C>A (n.6830-47C>A)
c.763-47C>A (n.763-47C>A)
c.427-47C>A (n.427-47C>A)
c.6845-47C>A (n.6845-47C>A)
c.110-47C>A (n.110-47C>A)
n.366-47C>A
c.7025-47C>A (n.7025-47C>A)
c.6959-47C>A (n.6959-47C>A)
c.7022-47C>A (n.7022-47C>A)
c.7019-47C>A (n.7019-47C>A)
c.6965-47C>A (n.6965-47C>A)
c.6935-47C>A (n.6935-47C>A)
c.6890-47C>A (n.6890-47C>A)
c.6485-47C>A (n.6485-47C>A)
c.5843-47C>A (n.5843-47C>A)
c.3353-47C>A (n.3353-47C>A)
 gnomAD v4
10g.71798308A=CA1918878368CDH23c.6830-46A= (n.6830-46A=)
c.763-46A= (n.763-46A=)
c.427-46A= (n.427-46A=)
c.6845-46A= (n.6845-46A=)
c.110-46A= (n.110-46A=)
n.366-46A=
c.7025-46A= (n.7025-46A=)
c.6959-46A= (n.6959-46A=)
c.7022-46A= (n.7022-46A=)
c.7019-46A= (n.7019-46A=)
c.6965-46A= (n.6965-46A=)
c.6935-46A= (n.6935-46A=)
c.6890-46A= (n.6890-46A=)
c.6485-46A= (n.6485-46A=)
c.5843-46A= (n.5843-46A=)
c.3353-46A= (n.3353-46A=)
10g.71798308A>CCA2609587362CDH23c.6830-46A>C (n.6830-46A>C)
c.763-46A>C (n.763-46A>C)
c.427-46A>C (n.427-46A>C)
c.6845-46A>C (n.6845-46A>C)
c.110-46A>C (n.110-46A>C)
n.366-46A>C
c.7025-46A>C (n.7025-46A>C)
c.6959-46A>C (n.6959-46A>C)
c.7022-46A>C (n.7022-46A>C)
c.7019-46A>C (n.7019-46A>C)
c.6965-46A>C (n.6965-46A>C)
c.6935-46A>C (n.6935-46A>C)
c.6890-46A>C (n.6890-46A>C)
c.6485-46A>C (n.6485-46A>C)
c.5843-46A>C (n.5843-46A>C)
c.3353-46A>C (n.3353-46A>C)
 gnomAD v4
10g.71798308A>TCA5546200CDH23c.6830-46A>T (n.6830-46A>T)
c.763-46A>T (n.763-46A>T)
c.427-46A>T (n.427-46A>T)
c.6845-46A>T (n.6845-46A>T)
c.110-46A>T (n.110-46A>T)
n.366-46A>T
c.7025-46A>T (n.7025-46A>T)
c.6959-46A>T (n.6959-46A>T)
c.7022-46A>T (n.7022-46A>T)
c.7019-46A>T (n.7019-46A>T)
c.6965-46A>T (n.6965-46A>T)
c.6935-46A>T (n.6935-46A>T)
c.6890-46A>T (n.6890-46A>T)
c.6485-46A>T (n.6485-46A>T)
c.5843-46A>T (n.5843-46A>T)
c.3353-46A>T (n.3353-46A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798309C>TCA2609587372CDH23c.6830-45C>T (n.6830-45C>T)
c.763-45C>T (n.763-45C>T)
c.427-45C>T (n.427-45C>T)
c.6845-45C>T (n.6845-45C>T)
c.110-45C>T (n.110-45C>T)
n.366-45C>T
c.7025-45C>T (n.7025-45C>T)
c.6959-45C>T (n.6959-45C>T)
c.7022-45C>T (n.7022-45C>T)
c.7019-45C>T (n.7019-45C>T)
c.6965-45C>T (n.6965-45C>T)
c.6935-45C>T (n.6935-45C>T)
c.6890-45C>T (n.6890-45C>T)
c.6485-45C>T (n.6485-45C>T)
c.5843-45C>T (n.5843-45C>T)
c.3353-45C>T (n.3353-45C>T)
 gnomAD v4
10g.71798310A=CA1918878369CDH23c.6830-44A= (n.6830-44A=)
c.763-44A= (n.763-44A=)
c.427-44A= (n.427-44A=)
c.6845-44A= (n.6845-44A=)
c.110-44A= (n.110-44A=)
n.366-44A=
c.7025-44A= (n.7025-44A=)
c.6959-44A= (n.6959-44A=)
c.7022-44A= (n.7022-44A=)
c.7019-44A= (n.7019-44A=)
c.6965-44A= (n.6965-44A=)
c.6935-44A= (n.6935-44A=)
c.6890-44A= (n.6890-44A=)
c.6485-44A= (n.6485-44A=)
c.5843-44A= (n.5843-44A=)
c.3353-44A= (n.3353-44A=)
10g.71798310A>CCA5546202CDH23c.6830-44A>C (n.6830-44A>C)
c.763-44A>C (n.763-44A>C)
c.427-44A>C (n.427-44A>C)
c.6845-44A>C (n.6845-44A>C)
c.110-44A>C (n.110-44A>C)
n.366-44A>C
c.7025-44A>C (n.7025-44A>C)
c.6959-44A>C (n.6959-44A>C)
c.7022-44A>C (n.7022-44A>C)
c.7019-44A>C (n.7019-44A>C)
c.6965-44A>C (n.6965-44A>C)
c.6935-44A>C (n.6935-44A>C)
c.6890-44A>C (n.6890-44A>C)
c.6485-44A>C (n.6485-44A>C)
c.5843-44A>C (n.5843-44A>C)
c.3353-44A>C (n.3353-44A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798310A>GCA5546201CDH23c.6830-44A>G (n.6830-44A>G)
c.763-44A>G (n.763-44A>G)
c.427-44A>G (n.427-44A>G)
c.6845-44A>G (n.6845-44A>G)
c.110-44A>G (n.110-44A>G)
n.366-44A>G
c.7025-44A>G (n.7025-44A>G)
c.6959-44A>G (n.6959-44A>G)
c.7022-44A>G (n.7022-44A>G)
c.7019-44A>G (n.7019-44A>G)
c.6965-44A>G (n.6965-44A>G)
c.6935-44A>G (n.6935-44A>G)
c.6890-44A>G (n.6890-44A>G)
c.6485-44A>G (n.6485-44A>G)
c.5843-44A>G (n.5843-44A>G)
c.3353-44A>G (n.3353-44A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798311C>ACA2609587380CDH23c.6830-43C>A (n.6830-43C>A)
c.763-43C>A (n.763-43C>A)
c.427-43C>A (n.427-43C>A)
c.6845-43C>A (n.6845-43C>A)
c.110-43C>A (n.110-43C>A)
n.366-43C>A
c.7025-43C>A (n.7025-43C>A)
c.6959-43C>A (n.6959-43C>A)
c.7022-43C>A (n.7022-43C>A)
c.7019-43C>A (n.7019-43C>A)
c.6965-43C>A (n.6965-43C>A)
c.6935-43C>A (n.6935-43C>A)
c.6890-43C>A (n.6890-43C>A)
c.6485-43C>A (n.6485-43C>A)
c.5843-43C>A (n.5843-43C>A)
c.3353-43C>A (n.3353-43C>A)
 gnomAD v4
10g.71798313A=CA1918878370CDH23c.6830-41A= (n.6830-41A=)
c.763-41A= (n.763-41A=)
c.427-41A= (n.427-41A=)
c.6845-41A= (n.6845-41A=)
c.110-41A= (n.110-41A=)
n.366-41A=
c.7025-41A= (n.7025-41A=)
c.6959-41A= (n.6959-41A=)
c.7022-41A= (n.7022-41A=)
c.7019-41A= (n.7019-41A=)
c.6965-41A= (n.6965-41A=)
c.6935-41A= (n.6935-41A=)
c.6890-41A= (n.6890-41A=)
c.6485-41A= (n.6485-41A=)
c.5843-41A= (n.5843-41A=)
c.3353-41A= (n.3353-41A=)
10g.71798313A>GCA5546203CDH23c.6830-41A>G (n.6830-41A>G)
c.763-41A>G (n.763-41A>G)
c.427-41A>G (n.427-41A>G)
c.6845-41A>G (n.6845-41A>G)
c.110-41A>G (n.110-41A>G)
n.366-41A>G
c.7025-41A>G (n.7025-41A>G)
c.6959-41A>G (n.6959-41A>G)
c.7022-41A>G (n.7022-41A>G)
c.7019-41A>G (n.7019-41A>G)
c.6965-41A>G (n.6965-41A>G)
c.6935-41A>G (n.6935-41A>G)
c.6890-41A>G (n.6890-41A>G)
c.6485-41A>G (n.6485-41A>G)
c.5843-41A>G (n.5843-41A>G)
c.3353-41A>G (n.3353-41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798313A>TCA2609587385CDH23c.6830-41A>T (n.6830-41A>T)
c.763-41A>T (n.763-41A>T)
c.427-41A>T (n.427-41A>T)
c.6845-41A>T (n.6845-41A>T)
c.110-41A>T (n.110-41A>T)
n.366-41A>T
c.7025-41A>T (n.7025-41A>T)
c.6959-41A>T (n.6959-41A>T)
c.7022-41A>T (n.7022-41A>T)
c.7019-41A>T (n.7019-41A>T)
c.6965-41A>T (n.6965-41A>T)
c.6935-41A>T (n.6935-41A>T)
c.6890-41A>T (n.6890-41A>T)
c.6485-41A>T (n.6485-41A>T)
c.5843-41A>T (n.5843-41A>T)
c.3353-41A>T (n.3353-41A>T)
 gnomAD v4
10g.71798314G=CA1918878371CDH23c.6830-40G= (n.6830-40G=)
c.763-40G= (n.763-40G=)
c.427-40G= (n.427-40G=)
c.6845-40G= (n.6845-40G=)
c.110-40G= (n.110-40G=)
n.366-40G=
c.7025-40G= (n.7025-40G=)
c.6959-40G= (n.6959-40G=)
c.7022-40G= (n.7022-40G=)
c.7019-40G= (n.7019-40G=)
c.6965-40G= (n.6965-40G=)
c.6935-40G= (n.6935-40G=)
c.6890-40G= (n.6890-40G=)
c.6485-40G= (n.6485-40G=)
c.5843-40G= (n.5843-40G=)
c.3353-40G= (n.3353-40G=)
10g.71798314G>TCA209469493CDH23c.6830-40G>T (n.6830-40G>T)
c.763-40G>T (n.763-40G>T)
c.427-40G>T (n.427-40G>T)
c.6845-40G>T (n.6845-40G>T)
c.110-40G>T (n.110-40G>T)
n.366-40G>T
c.7025-40G>T (n.7025-40G>T)
c.6959-40G>T (n.6959-40G>T)
c.7022-40G>T (n.7022-40G>T)
c.7019-40G>T (n.7019-40G>T)
c.6965-40G>T (n.6965-40G>T)
c.6935-40G>T (n.6935-40G>T)
c.6890-40G>T (n.6890-40G>T)
c.6485-40G>T (n.6485-40G>T)
c.5843-40G>T (n.5843-40G>T)
c.3353-40G>T (n.3353-40G>T)
 dbSNP
10g.71798315T>CCA209469494CDH23c.6830-39T>C (n.6830-39T>C)
c.763-39T>C (n.763-39T>C)
c.427-39T>C (n.427-39T>C)
c.6845-39T>C (n.6845-39T>C)
c.110-39T>C (n.110-39T>C)
n.366-39T>C
c.7025-39T>C (n.7025-39T>C)
c.6959-39T>C (n.6959-39T>C)
c.7022-39T>C (n.7022-39T>C)
c.7019-39T>C (n.7019-39T>C)
c.6965-39T>C (n.6965-39T>C)
c.6935-39T>C (n.6935-39T>C)
c.6890-39T>C (n.6890-39T>C)
c.6485-39T>C (n.6485-39T>C)
c.5843-39T>C (n.5843-39T>C)
c.3353-39T>C (n.3353-39T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.71798315T=CA1918878372CDH23c.6830-39T= (n.6830-39T=)
c.763-39T= (n.763-39T=)
c.427-39T= (n.427-39T=)
c.6845-39T= (n.6845-39T=)
c.110-39T= (n.110-39T=)
n.366-39T=
c.7025-39T= (n.7025-39T=)
c.6959-39T= (n.6959-39T=)
c.7022-39T= (n.7022-39T=)
c.7019-39T= (n.7019-39T=)
c.6965-39T= (n.6965-39T=)
c.6935-39T= (n.6935-39T=)
c.6890-39T= (n.6890-39T=)
c.6485-39T= (n.6485-39T=)
c.5843-39T= (n.5843-39T=)
c.3353-39T= (n.3353-39T=)
10g.71798316G>CCA2574455382CDH23c.6830-38G>C (n.6830-38G>C)
c.763-38G>C (n.763-38G>C)
c.427-38G>C (n.427-38G>C)
c.6845-38G>C (n.6845-38G>C)
c.110-38G>C (n.110-38G>C)
n.366-38G>C
c.7025-38G>C (n.7025-38G>C)
c.6959-38G>C (n.6959-38G>C)
c.7022-38G>C (n.7022-38G>C)
c.7019-38G>C (n.7019-38G>C)
c.6965-38G>C (n.6965-38G>C)
c.6935-38G>C (n.6935-38G>C)
c.6890-38G>C (n.6890-38G>C)
c.6485-38G>C (n.6485-38G>C)
c.5843-38G>C (n.5843-38G>C)
c.3353-38G>C (n.3353-38G>C)
10g.71798317T=CA1918878373CDH23c.6830-37T= (n.6830-37T=)
c.763-37T= (n.763-37T=)
c.427-37T= (n.427-37T=)
c.6845-37T= (n.6845-37T=)
c.110-37T= (n.110-37T=)
n.366-37T=
c.7025-37T= (n.7025-37T=)
c.6959-37T= (n.6959-37T=)
c.7022-37T= (n.7022-37T=)
c.7019-37T= (n.7019-37T=)
c.6965-37T= (n.6965-37T=)
c.6935-37T= (n.6935-37T=)
c.6890-37T= (n.6890-37T=)
c.6485-37T= (n.6485-37T=)
c.5843-37T= (n.5843-37T=)
c.3353-37T= (n.3353-37T=)
10g.71798317_71798318insGGCTGGGCCAGGCA1918878374CDH23c.6830-37_6830-36insGGCTGGGCCAGG (n.6830-37_6830-36insGGCTGGGCCAGG)
c.763-37_763-36insGGCTGGGCCAGG (n.763-37_763-36insGGCTGGGCCAGG)
c.427-37_427-36insGGCTGGGCCAGG (n.427-37_427-36insGGCTGGGCCAGG)
c.6845-37_6845-36insGGCTGGGCCAGG (n.6845-37_6845-36insGGCTGGGCCAGG)
c.110-37_110-36insGGCTGGGCCAGG (n.110-37_110-36insGGCTGGGCCAGG)
n.366-37_366-36insGGCTGGGCCAGG
c.7025-37_7025-36insGGCTGGGCCAGG (n.7025-37_7025-36insGGCTGGGCCAGG)
c.6959-37_6959-36insGGCTGGGCCAGG (n.6959-37_6959-36insGGCTGGGCCAGG)
c.7022-37_7022-36insGGCTGGGCCAGG (n.7022-37_7022-36insGGCTGGGCCAGG)
c.7019-37_7019-36insGGCTGGGCCAGG (n.7019-37_7019-36insGGCTGGGCCAGG)
c.6965-37_6965-36insGGCTGGGCCAGG (n.6965-37_6965-36insGGCTGGGCCAGG)
c.6935-37_6935-36insGGCTGGGCCAGG (n.6935-37_6935-36insGGCTGGGCCAGG)
c.6890-37_6890-36insGGCTGGGCCAGG (n.6890-37_6890-36insGGCTGGGCCAGG)
c.6485-37_6485-36insGGCTGGGCCAGG (n.6485-37_6485-36insGGCTGGGCCAGG)
c.5843-37_5843-36insGGCTGGGCCAGG (n.5843-37_5843-36insGGCTGGGCCAGG)
c.3353-37_3353-36insGGCTGGGCCAGG (n.3353-37_3353-36insGGCTGGGCCAGG)
 dbSNP
10g.71798318C>ACA2574455383CDH23c.6830-36C>A (n.6830-36C>A)
c.763-36C>A (n.763-36C>A)
c.427-36C>A (n.427-36C>A)
c.6845-36C>A (n.6845-36C>A)
c.110-36C>A (n.110-36C>A)
n.366-36C>A
c.7025-36C>A (n.7025-36C>A)
c.6959-36C>A (n.6959-36C>A)
c.7022-36C>A (n.7022-36C>A)
c.7019-36C>A (n.7019-36C>A)
c.6965-36C>A (n.6965-36C>A)
c.6935-36C>A (n.6935-36C>A)
c.6890-36C>A (n.6890-36C>A)
c.6485-36C>A (n.6485-36C>A)
c.5843-36C>A (n.5843-36C>A)
c.3353-36C>A (n.3353-36C>A)
 gnomAD v4
10g.71798318C>GCA2609587393CDH23c.6830-36C>G (n.6830-36C>G)
c.763-36C>G (n.763-36C>G)
c.427-36C>G (n.427-36C>G)
c.6845-36C>G (n.6845-36C>G)
c.110-36C>G (n.110-36C>G)
n.366-36C>G
c.7025-36C>G (n.7025-36C>G)
c.6959-36C>G (n.6959-36C>G)
c.7022-36C>G (n.7022-36C>G)
c.7019-36C>G (n.7019-36C>G)
c.6965-36C>G (n.6965-36C>G)
c.6935-36C>G (n.6935-36C>G)
c.6890-36C>G (n.6890-36C>G)
c.6485-36C>G (n.6485-36C>G)
c.5843-36C>G (n.5843-36C>G)
c.3353-36C>G (n.3353-36C>G)
 gnomAD v4
10g.71798319C>ACA2574455384CDH23c.6830-35C>A (n.6830-35C>A)
c.763-35C>A (n.763-35C>A)
c.427-35C>A (n.427-35C>A)
c.6845-35C>A (n.6845-35C>A)
c.110-35C>A (n.110-35C>A)
n.366-35C>A
c.7025-35C>A (n.7025-35C>A)
c.6959-35C>A (n.6959-35C>A)
c.7022-35C>A (n.7022-35C>A)
c.7019-35C>A (n.7019-35C>A)
c.6965-35C>A (n.6965-35C>A)
c.6935-35C>A (n.6935-35C>A)
c.6890-35C>A (n.6890-35C>A)
c.6485-35C>A (n.6485-35C>A)
c.5843-35C>A (n.5843-35C>A)
c.3353-35C>A (n.3353-35C>A)
10g.71798319C=CA1918878375CDH23c.6830-35C= (n.6830-35C=)
c.763-35C= (n.763-35C=)
c.427-35C= (n.427-35C=)
c.6845-35C= (n.6845-35C=)
c.110-35C= (n.110-35C=)
n.366-35C=
c.7025-35C= (n.7025-35C=)
c.6959-35C= (n.6959-35C=)
c.7022-35C= (n.7022-35C=)
c.7019-35C= (n.7019-35C=)
c.6965-35C= (n.6965-35C=)
c.6935-35C= (n.6935-35C=)
c.6890-35C= (n.6890-35C=)
c.6485-35C= (n.6485-35C=)
c.5843-35C= (n.5843-35C=)
c.3353-35C= (n.3353-35C=)
10g.71798319C>GCA2609587402CDH23c.6830-35C>G (n.6830-35C>G)
c.763-35C>G (n.763-35C>G)
c.427-35C>G (n.427-35C>G)
c.6845-35C>G (n.6845-35C>G)
c.110-35C>G (n.110-35C>G)
n.366-35C>G
c.7025-35C>G (n.7025-35C>G)
c.6959-35C>G (n.6959-35C>G)
c.7022-35C>G (n.7022-35C>G)
c.7019-35C>G (n.7019-35C>G)
c.6965-35C>G (n.6965-35C>G)
c.6935-35C>G (n.6935-35C>G)
c.6890-35C>G (n.6890-35C>G)
c.6485-35C>G (n.6485-35C>G)
c.5843-35C>G (n.5843-35C>G)
c.3353-35C>G (n.3353-35C>G)
 gnomAD v4
10g.71798319C>TCA594706155CDH23c.6830-35C>T (n.6830-35C>T)
c.763-35C>T (n.763-35C>T)
c.427-35C>T (n.427-35C>T)
c.6845-35C>T (n.6845-35C>T)
c.110-35C>T (n.110-35C>T)
n.366-35C>T
c.7025-35C>T (n.7025-35C>T)
c.6959-35C>T (n.6959-35C>T)
c.7022-35C>T (n.7022-35C>T)
c.7019-35C>T (n.7019-35C>T)
c.6965-35C>T (n.6965-35C>T)
c.6935-35C>T (n.6935-35C>T)
c.6890-35C>T (n.6890-35C>T)
c.6485-35C>T (n.6485-35C>T)
c.5843-35C>T (n.5843-35C>T)
c.3353-35C>T (n.3353-35C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71798320T>CCA2609587410CDH23c.6830-34T>C (n.6830-34T>C)
c.763-34T>C (n.763-34T>C)
c.427-34T>C (n.427-34T>C)
c.6845-34T>C (n.6845-34T>C)
c.110-34T>C (n.110-34T>C)
n.366-34T>C
c.7025-34T>C (n.7025-34T>C)
c.6959-34T>C (n.6959-34T>C)
c.7022-34T>C (n.7022-34T>C)
c.7019-34T>C (n.7019-34T>C)
c.6965-34T>C (n.6965-34T>C)
c.6935-34T>C (n.6935-34T>C)
c.6890-34T>C (n.6890-34T>C)
c.6485-34T>C (n.6485-34T>C)
c.5843-34T>C (n.5843-34T>C)
c.3353-34T>C (n.3353-34T>C)
 gnomAD v4
10g.71798321T>CCA2609587412CDH23c.6830-33T>C (n.6830-33T>C)
c.763-33T>C (n.763-33T>C)
c.427-33T>C (n.427-33T>C)
c.6845-33T>C (n.6845-33T>C)
c.110-33T>C (n.110-33T>C)
n.366-33T>C
c.7025-33T>C (n.7025-33T>C)
c.6959-33T>C (n.6959-33T>C)
c.7022-33T>C (n.7022-33T>C)
c.7019-33T>C (n.7019-33T>C)
c.6965-33T>C (n.6965-33T>C)
c.6935-33T>C (n.6935-33T>C)
c.6890-33T>C (n.6890-33T>C)
c.6485-33T>C (n.6485-33T>C)
c.5843-33T>C (n.5843-33T>C)
c.3353-33T>C (n.3353-33T>C)
 gnomAD v4
10g.71798321_71798329delinsTCCCCTCTCCA1918878376CDH23c.6830-33_6830-25delinsTCCCCTCTC (n.6830-33_6830-25delinsTCCCCTCTC)
c.763-33_763-25delinsTCCCCTCTC (n.763-33_763-25delinsTCCCCTCTC)
c.427-33_427-25delinsTCCCCTCTC (n.427-33_427-25delinsTCCCCTCTC)
c.6845-33_6845-25delinsTCCCCTCTC (n.6845-33_6845-25delinsTCCCCTCTC)
c.110-33_110-25delinsTCCCCTCTC (n.110-33_110-25delinsTCCCCTCTC)
n.366-33_366-25delinsTCCCCTCTC
c.7025-33_7025-25delinsTCCCCTCTC (n.7025-33_7025-25delinsTCCCCTCTC)
c.6959-33_6959-25delinsTCCCCTCTC (n.6959-33_6959-25delinsTCCCCTCTC)
c.7022-33_7022-25delinsTCCCCTCTC (n.7022-33_7022-25delinsTCCCCTCTC)
c.7019-33_7019-25delinsTCCCCTCTC (n.7019-33_7019-25delinsTCCCCTCTC)
c.6965-33_6965-25delinsTCCCCTCTC (n.6965-33_6965-25delinsTCCCCTCTC)
c.6935-33_6935-25delinsTCCCCTCTC (n.6935-33_6935-25delinsTCCCCTCTC)
c.6890-33_6890-25delinsTCCCCTCTC (n.6890-33_6890-25delinsTCCCCTCTC)
c.6485-33_6485-25delinsTCCCCTCTC (n.6485-33_6485-25delinsTCCCCTCTC)
c.5843-33_5843-25delinsTCCCCTCTC (n.5843-33_5843-25delinsTCCCCTCTC)
c.3353-33_3353-25delinsTCCCCTCTC (n.3353-33_3353-25delinsTCCCCTCTC)
10g.71798322C>ACA929792729CDH23c.6830-32C>A (n.6830-32C>A)
c.763-32C>A (n.763-32C>A)
c.427-32C>A (n.427-32C>A)
c.6845-32C>A (n.6845-32C>A)
c.110-32C>A (n.110-32C>A)
n.366-32C>A
c.7025-32C>A (n.7025-32C>A)
c.6959-32C>A (n.6959-32C>A)
c.7022-32C>A (n.7022-32C>A)
c.7019-32C>A (n.7019-32C>A)
c.6965-32C>A (n.6965-32C>A)
c.6935-32C>A (n.6935-32C>A)
c.6890-32C>A (n.6890-32C>A)
c.6485-32C>A (n.6485-32C>A)
c.5843-32C>A (n.5843-32C>A)
c.3353-32C>A (n.3353-32C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.71798322C=CA1918878377CDH23c.6830-32C= (n.6830-32C=)
c.763-32C= (n.763-32C=)
c.427-32C= (n.427-32C=)
c.6845-32C= (n.6845-32C=)
c.110-32C= (n.110-32C=)
n.366-32C=
c.7025-32C= (n.7025-32C=)
c.6959-32C= (n.6959-32C=)
c.7022-32C= (n.7022-32C=)
c.7019-32C= (n.7019-32C=)
c.6965-32C= (n.6965-32C=)
c.6935-32C= (n.6935-32C=)
c.6890-32C= (n.6890-32C=)
c.6485-32C= (n.6485-32C=)
c.5843-32C= (n.5843-32C=)
c.3353-32C= (n.3353-32C=)
10g.71798325dupCA2609587414CDH23c.6830-29dup (n.6830-29dup)
c.763-29dup (n.763-29dup)
c.427-29dup (n.427-29dup)
c.6845-29dup (n.6845-29dup)
c.110-29dup (n.110-29dup)
n.366-29dup
c.7025-29dup (n.7025-29dup)
c.6959-29dup (n.6959-29dup)
c.7022-29dup (n.7022-29dup)
c.7019-29dup (n.7019-29dup)
c.6965-29dup (n.6965-29dup)
c.6935-29dup (n.6935-29dup)
c.6890-29dup (n.6890-29dup)
c.6485-29dup (n.6485-29dup)
c.5843-29dup (n.5843-29dup)
c.3353-29dup (n.3353-29dup)
 gnomAD v4
10g.71798324_71798331delCA1918878378CDH23c.6830-30_6830-23del (n.6830-30_6830-23del)
c.763-30_763-23del (n.763-30_763-23del)
c.427-30_427-23del (n.427-30_427-23del)
c.6845-30_6845-23del (n.6845-30_6845-23del)
c.110-30_110-23del (n.110-30_110-23del)
n.366-30_366-23del
c.7025-30_7025-23del (n.7025-30_7025-23del)
c.6959-30_6959-23del (n.6959-30_6959-23del)
c.7022-30_7022-23del (n.7022-30_7022-23del)
c.7019-30_7019-23del (n.7019-30_7019-23del)
c.6965-30_6965-23del (n.6965-30_6965-23del)
c.6935-30_6935-23del (n.6935-30_6935-23del)
c.6890-30_6890-23del (n.6890-30_6890-23del)
c.6485-30_6485-23del (n.6485-30_6485-23del)
c.5843-30_5843-23del (n.5843-30_5843-23del)
c.3353-30_3353-23del (n.3353-30_3353-23del)
 dbSNP
10g.71798324C>GCA2574455385CDH23c.6830-30C>G (n.6830-30C>G)
c.763-30C>G (n.763-30C>G)
c.427-30C>G (n.427-30C>G)
c.6845-30C>G (n.6845-30C>G)
c.110-30C>G (n.110-30C>G)
n.366-30C>G
c.7025-30C>G (n.7025-30C>G)
c.6959-30C>G (n.6959-30C>G)
c.7022-30C>G (n.7022-30C>G)
c.7019-30C>G (n.7019-30C>G)
c.6965-30C>G (n.6965-30C>G)
c.6935-30C>G (n.6935-30C>G)
c.6890-30C>G (n.6890-30C>G)
c.6485-30C>G (n.6485-30C>G)
c.5843-30C>G (n.5843-30C>G)
c.3353-30C>G (n.3353-30C>G)
10g.71798325C>ACA2609587420CDH23c.6830-29C>A (n.6830-29C>A)
c.763-29C>A (n.763-29C>A)
c.427-29C>A (n.427-29C>A)
c.6845-29C>A (n.6845-29C>A)
c.110-29C>A (n.110-29C>A)
n.366-29C>A
c.7025-29C>A (n.7025-29C>A)
c.6959-29C>A (n.6959-29C>A)
c.7022-29C>A (n.7022-29C>A)
c.7019-29C>A (n.7019-29C>A)
c.6965-29C>A (n.6965-29C>A)
c.6935-29C>A (n.6935-29C>A)
c.6890-29C>A (n.6890-29C>A)
c.6485-29C>A (n.6485-29C>A)
c.5843-29C>A (n.5843-29C>A)
c.3353-29C>A (n.3353-29C>A)
 gnomAD v4
10g.71798325C=CA1918878379CDH23c.6830-29C= (n.6830-29C=)
c.763-29C= (n.763-29C=)
c.427-29C= (n.427-29C=)
c.6845-29C= (n.6845-29C=)
c.110-29C= (n.110-29C=)
n.366-29C=
c.7025-29C= (n.7025-29C=)
c.6959-29C= (n.6959-29C=)
c.7022-29C= (n.7022-29C=)
c.7019-29C= (n.7019-29C=)
c.6965-29C= (n.6965-29C=)
c.6935-29C= (n.6935-29C=)
c.6890-29C= (n.6890-29C=)
c.6485-29C= (n.6485-29C=)
c.5843-29C= (n.5843-29C=)
c.3353-29C= (n.3353-29C=)
10g.71798325C>TCA594706156CDH23c.6830-29C>T (n.6830-29C>T)
c.763-29C>T (n.763-29C>T)
c.427-29C>T (n.427-29C>T)
c.6845-29C>T (n.6845-29C>T)
c.110-29C>T (n.110-29C>T)
n.366-29C>T
c.7025-29C>T (n.7025-29C>T)
c.6959-29C>T (n.6959-29C>T)
c.7022-29C>T (n.7022-29C>T)
c.7019-29C>T (n.7019-29C>T)
c.6965-29C>T (n.6965-29C>T)
c.6935-29C>T (n.6935-29C>T)
c.6890-29C>T (n.6890-29C>T)
c.6485-29C>T (n.6485-29C>T)
c.5843-29C>T (n.5843-29C>T)
c.3353-29C>T (n.3353-29C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71798326T>ACA2609587452CDH23c.6830-28T>A (n.6830-28T>A)
c.763-28T>A (n.763-28T>A)
c.427-28T>A (n.427-28T>A)
c.6845-28T>A (n.6845-28T>A)
c.110-28T>A (n.110-28T>A)
n.366-28T>A
c.7025-28T>A (n.7025-28T>A)
c.6959-28T>A (n.6959-28T>A)
c.7022-28T>A (n.7022-28T>A)
c.7019-28T>A (n.7019-28T>A)
c.6965-28T>A (n.6965-28T>A)
c.6935-28T>A (n.6935-28T>A)
c.6890-28T>A (n.6890-28T>A)
c.6485-28T>A (n.6485-28T>A)
c.5843-28T>A (n.5843-28T>A)
c.3353-28T>A (n.3353-28T>A)
 gnomAD v4
10g.71798327C>ACA2574455387CDH23c.6830-27C>A (n.6830-27C>A)
c.763-27C>A (n.763-27C>A)
c.427-27C>A (n.427-27C>A)
c.6845-27C>A (n.6845-27C>A)
c.110-27C>A (n.110-27C>A)
n.366-27C>A
c.7025-27C>A (n.7025-27C>A)
c.6959-27C>A (n.6959-27C>A)
c.7022-27C>A (n.7022-27C>A)
c.7019-27C>A (n.7019-27C>A)
c.6965-27C>A (n.6965-27C>A)
c.6935-27C>A (n.6935-27C>A)
c.6890-27C>A (n.6890-27C>A)
c.6485-27C>A (n.6485-27C>A)
c.5843-27C>A (n.5843-27C>A)
c.3353-27C>A (n.3353-27C>A)
 gnomAD v4
10g.71798327C>GCA2788486762CDH23c.6830-27C>G (n.6830-27C>G)
c.763-27C>G (n.763-27C>G)
c.427-27C>G (n.427-27C>G)
c.6845-27C>G (n.6845-27C>G)
c.110-27C>G (n.110-27C>G)
n.366-27C>G
c.7025-27C>G (n.7025-27C>G)
c.6959-27C>G (n.6959-27C>G)
c.7022-27C>G (n.7022-27C>G)
c.7019-27C>G (n.7019-27C>G)
c.6965-27C>G (n.6965-27C>G)
c.6935-27C>G (n.6935-27C>G)
c.6890-27C>G (n.6890-27C>G)
c.6485-27C>G (n.6485-27C>G)
c.5843-27C>G (n.5843-27C>G)
c.3353-27C>G (n.3353-27C>G)
10g.71798328T>CCA1918878381CDH23c.6830-26T>C (n.6830-26T>C)
c.763-26T>C (n.763-26T>C)
c.427-26T>C (n.427-26T>C)
c.6845-26T>C (n.6845-26T>C)
c.110-26T>C (n.110-26T>C)
n.366-26T>C
c.7025-26T>C (n.7025-26T>C)
c.6959-26T>C (n.6959-26T>C)
c.7022-26T>C (n.7022-26T>C)
c.7019-26T>C (n.7019-26T>C)
c.6965-26T>C (n.6965-26T>C)
c.6935-26T>C (n.6935-26T>C)
c.6890-26T>C (n.6890-26T>C)
c.6485-26T>C (n.6485-26T>C)
c.5843-26T>C (n.5843-26T>C)
c.3353-26T>C (n.3353-26T>C)
 dbSNP
10g.71798328T=CA1918878380CDH23c.6830-26T= (n.6830-26T=)
c.763-26T= (n.763-26T=)
c.427-26T= (n.427-26T=)
c.6845-26T= (n.6845-26T=)
c.110-26T= (n.110-26T=)
n.366-26T=
c.7025-26T= (n.7025-26T=)
c.6959-26T= (n.6959-26T=)
c.7022-26T= (n.7022-26T=)
c.7019-26T= (n.7019-26T=)
c.6965-26T= (n.6965-26T=)
c.6935-26T= (n.6935-26T=)
c.6890-26T= (n.6890-26T=)
c.6485-26T= (n.6485-26T=)
c.5843-26T= (n.5843-26T=)
c.3353-26T= (n.3353-26T=)
10g.71798329C>ACA2609587464CDH23c.6830-25C>A (n.6830-25C>A)
c.763-25C>A (n.763-25C>A)
c.427-25C>A (n.427-25C>A)
c.6845-25C>A (n.6845-25C>A)
c.110-25C>A (n.110-25C>A)
n.366-25C>A
c.7025-25C>A (n.7025-25C>A)
c.6959-25C>A (n.6959-25C>A)
c.7022-25C>A (n.7022-25C>A)
c.7019-25C>A (n.7019-25C>A)
c.6965-25C>A (n.6965-25C>A)
c.6935-25C>A (n.6935-25C>A)
c.6890-25C>A (n.6890-25C>A)
c.6485-25C>A (n.6485-25C>A)
c.5843-25C>A (n.5843-25C>A)
c.3353-25C>A (n.3353-25C>A)
 gnomAD v4
10g.71798329C=CA1918878382CDH23c.6830-25C= (n.6830-25C=)
c.763-25C= (n.763-25C=)
c.427-25C= (n.427-25C=)
c.6845-25C= (n.6845-25C=)
c.110-25C= (n.110-25C=)
n.366-25C=
c.7025-25C= (n.7025-25C=)
c.6959-25C= (n.6959-25C=)
c.7022-25C= (n.7022-25C=)
c.7019-25C= (n.7019-25C=)
c.6965-25C= (n.6965-25C=)
c.6935-25C= (n.6935-25C=)
c.6890-25C= (n.6890-25C=)
c.6485-25C= (n.6485-25C=)
c.5843-25C= (n.5843-25C=)
c.3353-25C= (n.3353-25C=)
10g.71798329C>TCA594706157CDH23c.6830-25C>T (n.6830-25C>T)
c.763-25C>T (n.763-25C>T)
c.427-25C>T (n.427-25C>T)
c.6845-25C>T (n.6845-25C>T)
c.110-25C>T (n.110-25C>T)
n.366-25C>T
c.7025-25C>T (n.7025-25C>T)
c.6959-25C>T (n.6959-25C>T)
c.7022-25C>T (n.7022-25C>T)
c.7019-25C>T (n.7019-25C>T)
c.6965-25C>T (n.6965-25C>T)
c.6935-25C>T (n.6935-25C>T)
c.6890-25C>T (n.6890-25C>T)
c.6485-25C>T (n.6485-25C>T)
c.5843-25C>T (n.5843-25C>T)
c.3353-25C>T (n.3353-25C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71798331delCA2574455390CDH23c.6830-23del (n.6830-23del)
c.763-23del (n.763-23del)
c.427-23del (n.427-23del)
c.6845-23del (n.6845-23del)
c.110-23del (n.110-23del)
n.366-23del
c.7025-23del (n.7025-23del)
c.6959-23del (n.6959-23del)
c.7022-23del (n.7022-23del)
c.7019-23del (n.7019-23del)
c.6965-23del (n.6965-23del)
c.6935-23del (n.6935-23del)
c.6890-23del (n.6890-23del)
c.6485-23del (n.6485-23del)
c.5843-23del (n.5843-23del)
c.3353-23del (n.3353-23del)
10g.71798330C=CA1918878384CDH23c.6830-24C= (n.6830-24C=)
c.763-24C= (n.763-24C=)
c.427-24C= (n.427-24C=)
c.6845-24C= (n.6845-24C=)
c.110-24C= (n.110-24C=)
n.366-24C=
c.7025-24C= (n.7025-24C=)
c.6959-24C= (n.6959-24C=)
c.7022-24C= (n.7022-24C=)
c.7019-24C= (n.7019-24C=)
c.6965-24C= (n.6965-24C=)
c.6935-24C= (n.6935-24C=)
c.6890-24C= (n.6890-24C=)
c.6485-24C= (n.6485-24C=)
c.5843-24C= (n.5843-24C=)
c.3353-24C= (n.3353-24C=)
10g.71798330C>GCA1918878383CDH23c.6830-24C>G (n.6830-24C>G)
c.763-24C>G (n.763-24C>G)
c.427-24C>G (n.427-24C>G)
c.6845-24C>G (n.6845-24C>G)
c.110-24C>G (n.110-24C>G)
n.366-24C>G
c.7025-24C>G (n.7025-24C>G)
c.6959-24C>G (n.6959-24C>G)
c.7022-24C>G (n.7022-24C>G)
c.7019-24C>G (n.7019-24C>G)
c.6965-24C>G (n.6965-24C>G)
c.6935-24C>G (n.6935-24C>G)
c.6890-24C>G (n.6890-24C>G)
c.6485-24C>G (n.6485-24C>G)
c.5843-24C>G (n.5843-24C>G)
c.3353-24C>G (n.3353-24C>G)
 dbSNP gnomAD v4
10g.71798330C>TCA5546204CDH23c.6830-24C>T (n.6830-24C>T)
c.763-24C>T (n.763-24C>T)
c.427-24C>T (n.427-24C>T)
c.6845-24C>T (n.6845-24C>T)
c.110-24C>T (n.110-24C>T)
n.366-24C>T
c.7025-24C>T (n.7025-24C>T)
c.6959-24C>T (n.6959-24C>T)
c.7022-24C>T (n.7022-24C>T)
c.7019-24C>T (n.7019-24C>T)
c.6965-24C>T (n.6965-24C>T)
c.6935-24C>T (n.6935-24C>T)
c.6890-24C>T (n.6890-24C>T)
c.6485-24C>T (n.6485-24C>T)
c.5843-24C>T (n.5843-24C>T)
c.3353-24C>T (n.3353-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798331_71798333delCA2609587474CDH23c.6830-23_6830-21del (n.6830-23_6830-21del)
c.763-23_763-21del (n.763-23_763-21del)
c.427-23_427-21del (n.427-23_427-21del)
c.6845-23_6845-21del (n.6845-23_6845-21del)
c.110-23_110-21del (n.110-23_110-21del)
n.366-23_366-21del
c.7025-23_7025-21del (n.7025-23_7025-21del)
c.6959-23_6959-21del (n.6959-23_6959-21del)
c.7022-23_7022-21del (n.7022-23_7022-21del)
c.7019-23_7019-21del (n.7019-23_7019-21del)
c.6965-23_6965-21del (n.6965-23_6965-21del)
c.6935-23_6935-21del (n.6935-23_6935-21del)
c.6890-23_6890-21del (n.6890-23_6890-21del)
c.6485-23_6485-21del (n.6485-23_6485-21del)
c.5843-23_5843-21del (n.5843-23_5843-21del)
c.3353-23_3353-21del (n.3353-23_3353-21del)
 gnomAD v4
10g.71798331C>ACA2609587478CDH23c.6830-23C>A (n.6830-23C>A)
c.763-23C>A (n.763-23C>A)
c.427-23C>A (n.427-23C>A)
c.6845-23C>A (n.6845-23C>A)
c.110-23C>A (n.110-23C>A)
n.366-23C>A
c.7025-23C>A (n.7025-23C>A)
c.6959-23C>A (n.6959-23C>A)
c.7022-23C>A (n.7022-23C>A)
c.7019-23C>A (n.7019-23C>A)
c.6965-23C>A (n.6965-23C>A)
c.6935-23C>A (n.6935-23C>A)
c.6890-23C>A (n.6890-23C>A)
c.6485-23C>A (n.6485-23C>A)
c.5843-23C>A (n.5843-23C>A)
c.3353-23C>A (n.3353-23C>A)
 gnomAD v4
10g.71798331C=CA1918878385CDH23c.6830-23C= (n.6830-23C=)
c.763-23C= (n.763-23C=)
c.427-23C= (n.427-23C=)
c.6845-23C= (n.6845-23C=)
c.110-23C= (n.110-23C=)
n.366-23C=
c.7025-23C= (n.7025-23C=)
c.6959-23C= (n.6959-23C=)
c.7022-23C= (n.7022-23C=)
c.7019-23C= (n.7019-23C=)
c.6965-23C= (n.6965-23C=)
c.6935-23C= (n.6935-23C=)
c.6890-23C= (n.6890-23C=)
c.6485-23C= (n.6485-23C=)
c.5843-23C= (n.5843-23C=)
c.3353-23C= (n.3353-23C=)
10g.71798331C>TCA929792731CDH23c.6830-23C>T (n.6830-23C>T)
c.763-23C>T (n.763-23C>T)
c.427-23C>T (n.427-23C>T)
c.6845-23C>T (n.6845-23C>T)
c.110-23C>T (n.110-23C>T)
n.366-23C>T
c.7025-23C>T (n.7025-23C>T)
c.6959-23C>T (n.6959-23C>T)
c.7022-23C>T (n.7022-23C>T)
c.7019-23C>T (n.7019-23C>T)
c.6965-23C>T (n.6965-23C>T)
c.6935-23C>T (n.6935-23C>T)
c.6890-23C>T (n.6890-23C>T)
c.6485-23C>T (n.6485-23C>T)
c.5843-23C>T (n.5843-23C>T)
c.3353-23C>T (n.3353-23C>T)
 dbSNP gnomAD v3 gnomAD v4
10g.71798332T>CCA2609587481CDH23c.6830-22T>C (n.6830-22T>C)
c.763-22T>C (n.763-22T>C)
c.427-22T>C (n.427-22T>C)
c.6845-22T>C (n.6845-22T>C)
c.110-22T>C (n.110-22T>C)
n.366-22T>C
c.7025-22T>C (n.7025-22T>C)
c.6959-22T>C (n.6959-22T>C)
c.7022-22T>C (n.7022-22T>C)
c.7019-22T>C (n.7019-22T>C)
c.6965-22T>C (n.6965-22T>C)
c.6935-22T>C (n.6935-22T>C)
c.6890-22T>C (n.6890-22T>C)
c.6485-22T>C (n.6485-22T>C)
c.5843-22T>C (n.5843-22T>C)
c.3353-22T>C (n.3353-22T>C)
 gnomAD v4
10g.71798333C>ACA2609587482CDH23c.6830-21C>A (n.6830-21C>A)
c.763-21C>A (n.763-21C>A)
c.427-21C>A (n.427-21C>A)
c.6845-21C>A (n.6845-21C>A)
c.110-21C>A (n.110-21C>A)
n.366-21C>A
c.7025-21C>A (n.7025-21C>A)
c.6959-21C>A (n.6959-21C>A)
c.7022-21C>A (n.7022-21C>A)
c.7019-21C>A (n.7019-21C>A)
c.6965-21C>A (n.6965-21C>A)
c.6935-21C>A (n.6935-21C>A)
c.6890-21C>A (n.6890-21C>A)
c.6485-21C>A (n.6485-21C>A)
c.5843-21C>A (n.5843-21C>A)
c.3353-21C>A (n.3353-21C>A)
 gnomAD v4
10g.71798333C=CA1918878386CDH23c.6830-21C= (n.6830-21C=)
c.763-21C= (n.763-21C=)
c.427-21C= (n.427-21C=)
c.6845-21C= (n.6845-21C=)
c.110-21C= (n.110-21C=)
n.366-21C=
c.7025-21C= (n.7025-21C=)
c.6959-21C= (n.6959-21C=)
c.7022-21C= (n.7022-21C=)
c.7019-21C= (n.7019-21C=)
c.6965-21C= (n.6965-21C=)
c.6935-21C= (n.6935-21C=)
c.6890-21C= (n.6890-21C=)
c.6485-21C= (n.6485-21C=)
c.5843-21C= (n.5843-21C=)
c.3353-21C= (n.3353-21C=)
10g.71798333C>TCA594706158CDH23c.6830-21C>T (n.6830-21C>T)
c.763-21C>T (n.763-21C>T)
c.427-21C>T (n.427-21C>T)
c.6845-21C>T (n.6845-21C>T)
c.110-21C>T (n.110-21C>T)
n.366-21C>T
c.7025-21C>T (n.7025-21C>T)
c.6959-21C>T (n.6959-21C>T)
c.7022-21C>T (n.7022-21C>T)
c.7019-21C>T (n.7019-21C>T)
c.6965-21C>T (n.6965-21C>T)
c.6935-21C>T (n.6935-21C>T)
c.6890-21C>T (n.6890-21C>T)
c.6485-21C>T (n.6485-21C>T)
c.5843-21C>T (n.5843-21C>T)
c.3353-21C>T (n.3353-21C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71798334_71798335delCA2574455391CDH23c.6830-20_6830-19del (n.6830-20_6830-19del)
c.763-20_763-19del (n.763-20_763-19del)
c.427-20_427-19del (n.427-20_427-19del)
c.6845-20_6845-19del (n.6845-20_6845-19del)
c.110-20_110-19del (n.110-20_110-19del)
n.366-20_366-19del
c.7025-20_7025-19del (n.7025-20_7025-19del)
c.6959-20_6959-19del (n.6959-20_6959-19del)
c.7022-20_7022-19del (n.7022-20_7022-19del)
c.7019-20_7019-19del (n.7019-20_7019-19del)
c.6965-20_6965-19del (n.6965-20_6965-19del)
c.6935-20_6935-19del (n.6935-20_6935-19del)
c.6890-20_6890-19del (n.6890-20_6890-19del)
c.6485-20_6485-19del (n.6485-20_6485-19del)
c.5843-20_5843-19del (n.5843-20_5843-19del)
c.3353-20_3353-19del (n.3353-20_3353-19del)
10g.71798334A=CA1918878387CDH23c.6830-20A= (n.6830-20A=)
c.763-20A= (n.763-20A=)
c.427-20A= (n.427-20A=)
c.6845-20A= (n.6845-20A=)
c.110-20A= (n.110-20A=)
n.366-20A=
c.7025-20A= (n.7025-20A=)
c.6959-20A= (n.6959-20A=)
c.7022-20A= (n.7022-20A=)
c.7019-20A= (n.7019-20A=)
c.6965-20A= (n.6965-20A=)
c.6935-20A= (n.6935-20A=)
c.6890-20A= (n.6890-20A=)
c.6485-20A= (n.6485-20A=)
c.5843-20A= (n.5843-20A=)
c.3353-20A= (n.3353-20A=)
10g.71798334A>CCA1918878388CDH23c.6830-20A>C (n.6830-20A>C)
c.763-20A>C (n.763-20A>C)
c.427-20A>C (n.427-20A>C)
c.6845-20A>C (n.6845-20A>C)
c.110-20A>C (n.110-20A>C)
n.366-20A>C
c.7025-20A>C (n.7025-20A>C)
c.6959-20A>C (n.6959-20A>C)
c.7022-20A>C (n.7022-20A>C)
c.7019-20A>C (n.7019-20A>C)
c.6965-20A>C (n.6965-20A>C)
c.6935-20A>C (n.6935-20A>C)
c.6890-20A>C (n.6890-20A>C)
c.6485-20A>C (n.6485-20A>C)
c.5843-20A>C (n.5843-20A>C)
c.3353-20A>C (n.3353-20A>C)
 dbSNP
10g.71798334A>GCA2574455395CDH23c.6830-20A>G (n.6830-20A>G)
c.763-20A>G (n.763-20A>G)
c.427-20A>G (n.427-20A>G)
c.6845-20A>G (n.6845-20A>G)
c.110-20A>G (n.110-20A>G)
n.366-20A>G
c.7025-20A>G (n.7025-20A>G)
c.6959-20A>G (n.6959-20A>G)
c.7022-20A>G (n.7022-20A>G)
c.7019-20A>G (n.7019-20A>G)
c.6965-20A>G (n.6965-20A>G)
c.6935-20A>G (n.6935-20A>G)
c.6890-20A>G (n.6890-20A>G)
c.6485-20A>G (n.6485-20A>G)
c.5843-20A>G (n.5843-20A>G)
c.3353-20A>G (n.3353-20A>G)
10g.71798335C>ACA2609587484CDH23c.6830-19C>A (n.6830-19C>A)
c.763-19C>A (n.763-19C>A)
c.427-19C>A (n.427-19C>A)
c.6845-19C>A (n.6845-19C>A)
c.110-19C>A (n.110-19C>A)
n.366-19C>A
c.7025-19C>A (n.7025-19C>A)
c.6959-19C>A (n.6959-19C>A)
c.7022-19C>A (n.7022-19C>A)
c.7019-19C>A (n.7019-19C>A)
c.6965-19C>A (n.6965-19C>A)
c.6935-19C>A (n.6935-19C>A)
c.6890-19C>A (n.6890-19C>A)
c.6485-19C>A (n.6485-19C>A)
c.5843-19C>A (n.5843-19C>A)
c.3353-19C>A (n.3353-19C>A)
 gnomAD v4
10g.71798337C>ACA1918878390CDH23c.6830-17C>A (n.6830-17C>A)
c.763-17C>A (n.763-17C>A)
c.427-17C>A (n.427-17C>A)
c.6845-17C>A (n.6845-17C>A)
c.110-17C>A (n.110-17C>A)
n.366-17C>A
c.7025-17C>A (n.7025-17C>A)
c.6959-17C>A (n.6959-17C>A)
c.7022-17C>A (n.7022-17C>A)
c.7019-17C>A (n.7019-17C>A)
c.6965-17C>A (n.6965-17C>A)
c.6935-17C>A (n.6935-17C>A)
c.6890-17C>A (n.6890-17C>A)
c.6485-17C>A (n.6485-17C>A)
c.5843-17C>A (n.5843-17C>A)
c.3353-17C>A (n.3353-17C>A)
 dbSNP gnomAD v4
10g.71798337C=CA1918878389CDH23c.6830-17C= (n.6830-17C=)
c.763-17C= (n.763-17C=)
c.427-17C= (n.427-17C=)
c.6845-17C= (n.6845-17C=)
c.110-17C= (n.110-17C=)
n.366-17C=
c.7025-17C= (n.7025-17C=)
c.6959-17C= (n.6959-17C=)
c.7022-17C= (n.7022-17C=)
c.7019-17C= (n.7019-17C=)
c.6965-17C= (n.6965-17C=)
c.6935-17C= (n.6935-17C=)
c.6890-17C= (n.6890-17C=)
c.6485-17C= (n.6485-17C=)
c.5843-17C= (n.5843-17C=)
c.3353-17C= (n.3353-17C=)
10g.71798338C>ACA2567702674CDH23c.6830-16C>A (n.6830-16C>A)
c.763-16C>A (n.763-16C>A)
c.427-16C>A (n.427-16C>A)
c.6845-16C>A (n.6845-16C>A)
c.110-16C>A (n.110-16C>A)
n.366-16C>A
c.7025-16C>A (n.7025-16C>A)
c.6959-16C>A (n.6959-16C>A)
c.7022-16C>A (n.7022-16C>A)
c.7019-16C>A (n.7019-16C>A)
c.6965-16C>A (n.6965-16C>A)
c.6935-16C>A (n.6935-16C>A)
c.6890-16C>A (n.6890-16C>A)
c.6485-16C>A (n.6485-16C>A)
c.5843-16C>A (n.5843-16C>A)
c.3353-16C>A (n.3353-16C>A)
10g.71798339C=CA1918878391CDH23c.6830-15C= (n.6830-15C=)
c.763-15C= (n.763-15C=)
c.427-15C= (n.427-15C=)
c.6845-15C= (n.6845-15C=)
c.110-15C= (n.110-15C=)
n.366-15C=
c.7025-15C= (n.7025-15C=)
c.6959-15C= (n.6959-15C=)
c.7022-15C= (n.7022-15C=)
c.7019-15C= (n.7019-15C=)
c.6965-15C= (n.6965-15C=)
c.6935-15C= (n.6935-15C=)
c.6890-15C= (n.6890-15C=)
c.6485-15C= (n.6485-15C=)
c.5843-15C= (n.5843-15C=)
c.3353-15C= (n.3353-15C=)
10g.71798339C>GCA594706159CDH23c.6830-15C>G (n.6830-15C>G)
c.763-15C>G (n.763-15C>G)
c.427-15C>G (n.427-15C>G)
c.6845-15C>G (n.6845-15C>G)
c.110-15C>G (n.110-15C>G)
n.366-15C>G
c.7025-15C>G (n.7025-15C>G)
c.6959-15C>G (n.6959-15C>G)
c.7022-15C>G (n.7022-15C>G)
c.7019-15C>G (n.7019-15C>G)
c.6965-15C>G (n.6965-15C>G)
c.6935-15C>G (n.6935-15C>G)
c.6890-15C>G (n.6890-15C>G)
c.6485-15C>G (n.6485-15C>G)
c.5843-15C>G (n.5843-15C>G)
c.3353-15C>G (n.3353-15C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.71798339C>TCA2609587492CDH23c.6830-15C>T (n.6830-15C>T)
c.763-15C>T (n.763-15C>T)
c.427-15C>T (n.427-15C>T)
c.6845-15C>T (n.6845-15C>T)
c.110-15C>T (n.110-15C>T)
n.366-15C>T
c.7025-15C>T (n.7025-15C>T)
c.6959-15C>T (n.6959-15C>T)
c.7022-15C>T (n.7022-15C>T)
c.7019-15C>T (n.7019-15C>T)
c.6965-15C>T (n.6965-15C>T)
c.6935-15C>T (n.6935-15C>T)
c.6890-15C>T (n.6890-15C>T)
c.6485-15C>T (n.6485-15C>T)
c.5843-15C>T (n.5843-15C>T)
c.3353-15C>T (n.3353-15C>T)
 gnomAD v4
10g.71798340_71798341delinsTGCA1918878392CDH23c.6830-14_6830-13delinsTG (n.6830-14_6830-13delinsTG)
c.763-14_763-13delinsTG (n.763-14_763-13delinsTG)
c.427-14_427-13delinsTG (n.427-14_427-13delinsTG)
c.6845-14_6845-13delinsTG (n.6845-14_6845-13delinsTG)
c.110-14_110-13delinsTG (n.110-14_110-13delinsTG)
n.366-14_366-13delinsTG
c.7025-14_7025-13delinsTG (n.7025-14_7025-13delinsTG)
c.6959-14_6959-13delinsTG (n.6959-14_6959-13delinsTG)
c.7022-14_7022-13delinsTG (n.7022-14_7022-13delinsTG)
c.7019-14_7019-13delinsTG (n.7019-14_7019-13delinsTG)
c.6965-14_6965-13delinsTG (n.6965-14_6965-13delinsTG)
c.6935-14_6935-13delinsTG (n.6935-14_6935-13delinsTG)
c.6890-14_6890-13delinsTG (n.6890-14_6890-13delinsTG)
c.6485-14_6485-13delinsTG (n.6485-14_6485-13delinsTG)
c.5843-14_5843-13delinsTG (n.5843-14_5843-13delinsTG)
c.3353-14_3353-13delinsTG (n.3353-14_3353-13delinsTG)
10g.71798341delCA929792735CDH23c.6830-13del (n.6830-13del)
c.763-13del (n.763-13del)
c.427-13del (n.427-13del)
c.6845-13del (n.6845-13del)
c.110-13del (n.110-13del)
n.366-13del
c.7025-13del (n.7025-13del)
c.6959-13del (n.6959-13del)
c.7022-13del (n.7022-13del)
c.7019-13del (n.7019-13del)
c.6965-13del (n.6965-13del)
c.6935-13del (n.6935-13del)
c.6890-13del (n.6890-13del)
c.6485-13del (n.6485-13del)
c.5843-13del (n.5843-13del)
c.3353-13del (n.3353-13del)
 dbSNP gnomAD v3 gnomAD v4
10g.71798341G>CCA2722285441CDH23c.6830-13G>C (n.6830-13G>C)
c.763-13G>C (n.763-13G>C)
c.427-13G>C (n.427-13G>C)
c.6845-13G>C (n.6845-13G>C)
c.110-13G>C (n.110-13G>C)
n.366-13G>C
c.7025-13G>C (n.7025-13G>C)
c.6959-13G>C (n.6959-13G>C)
c.7022-13G>C (n.7022-13G>C)
c.7019-13G>C (n.7019-13G>C)
c.6965-13G>C (n.6965-13G>C)
c.6935-13G>C (n.6935-13G>C)
c.6890-13G>C (n.6890-13G>C)
c.6485-13G>C (n.6485-13G>C)
c.5843-13G>C (n.5843-13G>C)
c.3353-13G>C (n.3353-13G>C)
 dbSNP
10g.71798342C>ACA2609587504CDH23c.6830-12C>A (n.6830-12C>A)
c.763-12C>A (n.763-12C>A)
c.427-12C>A (n.427-12C>A)
c.6845-12C>A (n.6845-12C>A)
c.110-12C>A (n.110-12C>A)
n.366-12C>A
c.7025-12C>A (n.7025-12C>A)
c.6959-12C>A (n.6959-12C>A)
c.7022-12C>A (n.7022-12C>A)
c.7019-12C>A (n.7019-12C>A)
c.6965-12C>A (n.6965-12C>A)
c.6935-12C>A (n.6935-12C>A)
c.6890-12C>A (n.6890-12C>A)
c.6485-12C>A (n.6485-12C>A)
c.5843-12C>A (n.5843-12C>A)
c.3353-12C>A (n.3353-12C>A)
 gnomAD v4
10g.71798342C>TCA2574455401CDH23c.6830-12C>T (n.6830-12C>T)
c.763-12C>T (n.763-12C>T)
c.427-12C>T (n.427-12C>T)
c.6845-12C>T (n.6845-12C>T)
c.110-12C>T (n.110-12C>T)
n.366-12C>T
c.7025-12C>T (n.7025-12C>T)
c.6959-12C>T (n.6959-12C>T)
c.7022-12C>T (n.7022-12C>T)
c.7019-12C>T (n.7019-12C>T)
c.6965-12C>T (n.6965-12C>T)
c.6935-12C>T (n.6935-12C>T)
c.6890-12C>T (n.6890-12C>T)
c.6485-12C>T (n.6485-12C>T)
c.5843-12C>T (n.5843-12C>T)
c.3353-12C>T (n.3353-12C>T)
 ClinVar gnomAD v4
10g.71798343C>ACA2574455405CDH23c.6830-11C>A (n.6830-11C>A)
c.763-11C>A (n.763-11C>A)
c.427-11C>A (n.427-11C>A)
c.6845-11C>A (n.6845-11C>A)
c.110-11C>A (n.110-11C>A)
n.366-11C>A
c.7025-11C>A (n.7025-11C>A)
c.6959-11C>A (n.6959-11C>A)
c.7022-11C>A (n.7022-11C>A)
c.7019-11C>A (n.7019-11C>A)
c.6965-11C>A (n.6965-11C>A)
c.6935-11C>A (n.6935-11C>A)
c.6890-11C>A (n.6890-11C>A)
c.6485-11C>A (n.6485-11C>A)
c.5843-11C>A (n.5843-11C>A)
c.3353-11C>A (n.3353-11C>A)
 gnomAD v4
10g.71798343C=CA1918878393CDH23c.6830-11C= (n.6830-11C=)
c.763-11C= (n.763-11C=)
c.427-11C= (n.427-11C=)
c.6845-11C= (n.6845-11C=)
c.110-11C= (n.110-11C=)
n.366-11C=
c.7025-11C= (n.7025-11C=)
c.6959-11C= (n.6959-11C=)
c.7022-11C= (n.7022-11C=)
c.7019-11C= (n.7019-11C=)
c.6965-11C= (n.6965-11C=)
c.6935-11C= (n.6935-11C=)
c.6890-11C= (n.6890-11C=)
c.6485-11C= (n.6485-11C=)
c.5843-11C= (n.5843-11C=)
c.3353-11C= (n.3353-11C=)
10g.71798343C>TCA1918878394CDH23c.6830-11C>T (n.6830-11C>T)
c.763-11C>T (n.763-11C>T)
c.427-11C>T (n.427-11C>T)
c.6845-11C>T (n.6845-11C>T)
c.110-11C>T (n.110-11C>T)
n.366-11C>T
c.7025-11C>T (n.7025-11C>T)
c.6959-11C>T (n.6959-11C>T)
c.7022-11C>T (n.7022-11C>T)
c.7019-11C>T (n.7019-11C>T)
c.6965-11C>T (n.6965-11C>T)
c.6935-11C>T (n.6935-11C>T)
c.6890-11C>T (n.6890-11C>T)
c.6485-11C>T (n.6485-11C>T)
c.5843-11C>T (n.5843-11C>T)
c.3353-11C>T (n.3353-11C>T)
 ClinVar dbSNP gnomAD v4
10g.71798344T>CCA2609587508CDH23c.6830-10T>C (n.6830-10T>C)
c.763-10T>C (n.763-10T>C)
c.427-10T>C (n.427-10T>C)
c.6845-10T>C (n.6845-10T>C)
c.110-10T>C (n.110-10T>C)
n.366-10T>C
c.7025-10T>C (n.7025-10T>C)
c.6959-10T>C (n.6959-10T>C)
c.7022-10T>C (n.7022-10T>C)
c.7019-10T>C (n.7019-10T>C)
c.6965-10T>C (n.6965-10T>C)
c.6935-10T>C (n.6935-10T>C)
c.6890-10T>C (n.6890-10T>C)
c.6485-10T>C (n.6485-10T>C)
c.5843-10T>C (n.5843-10T>C)
c.3353-10T>C (n.3353-10T>C)
 gnomAD v4
10g.71798345C>ACA2535638290CDH23c.6830-9C>A (n.6830-9C>A)
c.763-9C>A (n.763-9C>A)
c.427-9C>A (n.427-9C>A)
c.6845-9C>A (n.6845-9C>A)
c.110-9C>A (n.110-9C>A)
n.366-9C>A
c.7025-9C>A (n.7025-9C>A)
c.6959-9C>A (n.6959-9C>A)
c.7022-9C>A (n.7022-9C>A)
c.7019-9C>A (n.7019-9C>A)
c.6965-9C>A (n.6965-9C>A)
c.6935-9C>A (n.6935-9C>A)
c.6890-9C>A (n.6890-9C>A)
c.6485-9C>A (n.6485-9C>A)
c.5843-9C>A (n.5843-9C>A)
c.3353-9C>A (n.3353-9C>A)
10g.71798349_71798351delCA2609587509CDH23c.6830-5_6830-3del (n.6830-5_6830-3del)
c.763-5_763-3del (n.763-5_763-3del)
c.427-5_427-3del (n.427-5_427-3del)
c.6845-5_6845-3del (n.6845-5_6845-3del)
c.110-5_110-3del (n.110-5_110-3del)
n.366-5_366-3del
c.7025-5_7025-3del (n.7025-5_7025-3del)
c.6959-5_6959-3del (n.6959-5_6959-3del)
c.7022-5_7022-3del (n.7022-5_7022-3del)
c.7019-5_7019-3del (n.7019-5_7019-3del)
c.6965-5_6965-3del (n.6965-5_6965-3del)
c.6935-5_6935-3del (n.6935-5_6935-3del)
c.6890-5_6890-3del (n.6890-5_6890-3del)
c.6485-5_6485-3del (n.6485-5_6485-3del)
c.5843-5_5843-3del (n.5843-5_5843-3del)
c.3353-5_3353-3del (n.3353-5_3353-3del)
 gnomAD v4
10g.71798346C>ACA2609587511CDH23c.6830-8C>A (n.6830-8C>A)
c.763-8C>A (n.763-8C>A)
c.427-8C>A (n.427-8C>A)
c.6845-8C>A (n.6845-8C>A)
c.110-8C>A (n.110-8C>A)
n.366-8C>A
c.7025-8C>A (n.7025-8C>A)
c.6959-8C>A (n.6959-8C>A)
c.7022-8C>A (n.7022-8C>A)
c.7019-8C>A (n.7019-8C>A)
c.6965-8C>A (n.6965-8C>A)
c.6935-8C>A (n.6935-8C>A)
c.6890-8C>A (n.6890-8C>A)
c.6485-8C>A (n.6485-8C>A)
c.5843-8C>A (n.5843-8C>A)
c.3353-8C>A (n.3353-8C>A)
 gnomAD v4
10g.71798346C=CA1918878395CDH23c.6830-8C= (n.6830-8C=)
c.763-8C= (n.763-8C=)
c.427-8C= (n.427-8C=)
c.6845-8C= (n.6845-8C=)
c.110-8C= (n.110-8C=)
n.366-8C=
c.7025-8C= (n.7025-8C=)
c.6959-8C= (n.6959-8C=)
c.7022-8C= (n.7022-8C=)
c.7019-8C= (n.7019-8C=)
c.6965-8C= (n.6965-8C=)
c.6935-8C= (n.6935-8C=)
c.6890-8C= (n.6890-8C=)
c.6485-8C= (n.6485-8C=)
c.5843-8C= (n.5843-8C=)
c.3353-8C= (n.3353-8C=)
10g.71798346C>TCA1918878396CDH23c.6830-8C>T (n.6830-8C>T)
c.763-8C>T (n.763-8C>T)
c.427-8C>T (n.427-8C>T)
c.6845-8C>T (n.6845-8C>T)
c.110-8C>T (n.110-8C>T)
n.366-8C>T
c.7025-8C>T (n.7025-8C>T)
c.6959-8C>T (n.6959-8C>T)
c.7022-8C>T (n.7022-8C>T)
c.7019-8C>T (n.7019-8C>T)
c.6965-8C>T (n.6965-8C>T)
c.6935-8C>T (n.6935-8C>T)
c.6890-8C>T (n.6890-8C>T)
c.6485-8C>T (n.6485-8C>T)
c.5843-8C>T (n.5843-8C>T)
c.3353-8C>T (n.3353-8C>T)
 ClinVar dbSNP
10g.71798347A=CA1918878397CDH23c.6830-7A= (n.6830-7A=)
c.763-7A= (n.763-7A=)
c.427-7A= (n.427-7A=)
c.6845-7A= (n.6845-7A=)
c.110-7A= (n.110-7A=)
n.366-7A=
c.7025-7A= (n.7025-7A=)
c.6959-7A= (n.6959-7A=)
c.7022-7A= (n.7022-7A=)
c.7019-7A= (n.7019-7A=)
c.6965-7A= (n.6965-7A=)
c.6935-7A= (n.6935-7A=)
c.6890-7A= (n.6890-7A=)
c.6485-7A= (n.6485-7A=)
c.5843-7A= (n.5843-7A=)
c.3353-7A= (n.3353-7A=)
10g.71798347A>CCA5546205CDH23c.6830-7A>C (n.6830-7A>C)
c.763-7A>C (n.763-7A>C)
c.427-7A>C (n.427-7A>C)
c.6845-7A>C (n.6845-7A>C)
c.110-7A>C (n.110-7A>C)
n.366-7A>C
c.7025-7A>C (n.7025-7A>C)
c.6959-7A>C (n.6959-7A>C)
c.7022-7A>C (n.7022-7A>C)
c.7019-7A>C (n.7019-7A>C)
c.6965-7A>C (n.6965-7A>C)
c.6935-7A>C (n.6935-7A>C)
c.6890-7A>C (n.6890-7A>C)
c.6485-7A>C (n.6485-7A>C)
c.5843-7A>C (n.5843-7A>C)
c.3353-7A>C (n.3353-7A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798347A>TCA2788486783CDH23c.6830-7A>T (n.6830-7A>T)
c.763-7A>T (n.763-7A>T)
c.427-7A>T (n.427-7A>T)
c.6845-7A>T (n.6845-7A>T)
c.110-7A>T (n.110-7A>T)
n.366-7A>T
c.7025-7A>T (n.7025-7A>T)
c.6959-7A>T (n.6959-7A>T)
c.7022-7A>T (n.7022-7A>T)
c.7019-7A>T (n.7019-7A>T)
c.6965-7A>T (n.6965-7A>T)
c.6935-7A>T (n.6935-7A>T)
c.6890-7A>T (n.6890-7A>T)
c.6485-7A>T (n.6485-7A>T)
c.5843-7A>T (n.5843-7A>T)
c.3353-7A>T (n.3353-7A>T)
10g.71798349C>TCA2609587517CDH23c.6830-5C>T (n.6830-5C>T)
c.763-5C>T (n.763-5C>T)
c.427-5C>T (n.427-5C>T)
c.6845-5C>T (n.6845-5C>T)
c.110-5C>T (n.110-5C>T)
n.366-5C>T
c.7025-5C>T (n.7025-5C>T)
c.6959-5C>T (n.6959-5C>T)
c.7022-5C>T (n.7022-5C>T)
c.7019-5C>T (n.7019-5C>T)
c.6965-5C>T (n.6965-5C>T)
c.6935-5C>T (n.6935-5C>T)
c.6890-5C>T (n.6890-5C>T)
c.6485-5C>T (n.6485-5C>T)
c.5843-5C>T (n.5843-5C>T)
c.3353-5C>T (n.3353-5C>T)
 gnomAD v4
10g.71798350A=CA1918878398CDH23c.6830-4A= (n.6830-4A=)
c.763-4A= (n.763-4A=)
c.427-4A= (n.427-4A=)
c.6845-4A= (n.6845-4A=)
c.110-4A= (n.110-4A=)
n.366-4A=
c.7025-4A= (n.7025-4A=)
c.6959-4A= (n.6959-4A=)
c.7022-4A= (n.7022-4A=)
c.7019-4A= (n.7019-4A=)
c.6965-4A= (n.6965-4A=)
c.6935-4A= (n.6935-4A=)
c.6890-4A= (n.6890-4A=)
c.6485-4A= (n.6485-4A=)
c.5843-4A= (n.5843-4A=)
c.3353-4A= (n.3353-4A=)
10g.71798350A>GCA5546206CDH23c.6830-4A>G (n.6830-4A>G)
c.763-4A>G (n.763-4A>G)
c.427-4A>G (n.427-4A>G)
c.6845-4A>G (n.6845-4A>G)
c.110-4A>G (n.110-4A>G)
n.366-4A>G
c.7025-4A>G (n.7025-4A>G)
c.6959-4A>G (n.6959-4A>G)
c.7022-4A>G (n.7022-4A>G)
c.7019-4A>G (n.7019-4A>G)
c.6965-4A>G (n.6965-4A>G)
c.6935-4A>G (n.6935-4A>G)
c.6890-4A>G (n.6890-4A>G)
c.6485-4A>G (n.6485-4A>G)
c.5843-4A>G (n.5843-4A>G)
c.3353-4A>G (n.3353-4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798351C>ACA2609587524CDH23c.6830-3C>A (n.6830-3C>A)
c.763-3C>A (n.763-3C>A)
c.427-3C>A (n.427-3C>A)
c.6845-3C>A (n.6845-3C>A)
c.110-3C>A (n.110-3C>A)
n.366-3C>A
c.7025-3C>A (n.7025-3C>A)
c.6959-3C>A (n.6959-3C>A)
c.7022-3C>A (n.7022-3C>A)
c.7019-3C>A (n.7019-3C>A)
c.6965-3C>A (n.6965-3C>A)
c.6935-3C>A (n.6935-3C>A)
c.6890-3C>A (n.6890-3C>A)
c.6485-3C>A (n.6485-3C>A)
c.5843-3C>A (n.5843-3C>A)
c.3353-3C>A (n.3353-3C>A)
 gnomAD v4
10g.71798351C>GCA2609587526CDH23c.6830-3C>G (n.6830-3C>G)
c.763-3C>G (n.763-3C>G)
c.427-3C>G (n.427-3C>G)
c.6845-3C>G (n.6845-3C>G)
c.110-3C>G (n.110-3C>G)
n.366-3C>G
c.7025-3C>G (n.7025-3C>G)
c.6959-3C>G (n.6959-3C>G)
c.7022-3C>G (n.7022-3C>G)
c.7019-3C>G (n.7019-3C>G)
c.6965-3C>G (n.6965-3C>G)
c.6935-3C>G (n.6935-3C>G)
c.6890-3C>G (n.6890-3C>G)
c.6485-3C>G (n.6485-3C>G)
c.5843-3C>G (n.5843-3C>G)
c.3353-3C>G (n.3353-3C>G)
 gnomAD v4
10g.71798352_71798354delCA2695212174CDH23c.6830-2_6830del
c.763-2_763del
c.427-2_427del
c.6845-2_6845del
c.110-2_110del
n.366-2_366del
c.7025-2_7025del
c.6959-2_6959del
c.7022-2_7022del
c.7019-2_7019del
c.6965-2_6965del
c.6935-2_6935del
c.6890-2_6890del
c.6485-2_6485del
c.5843-2_5843del
c.3353-2_3353del
10g.71798352A>CCA377157615CDH23c.6830-2A>C (n.6830-2A>C)
c.763-2A>C (n.763-2A>C)
c.427-2A>C (n.427-2A>C)
c.6845-2A>C (n.6845-2A>C)
c.110-2A>C (n.110-2A>C)
n.366-2A>C
c.7025-2A>C (n.7025-2A>C)
c.6959-2A>C (n.6959-2A>C)
c.7022-2A>C (n.7022-2A>C)
c.7019-2A>C (n.7019-2A>C)
c.6965-2A>C (n.6965-2A>C)
c.6935-2A>C (n.6935-2A>C)
c.6890-2A>C (n.6890-2A>C)
c.6485-2A>C (n.6485-2A>C)
c.5843-2A>C (n.5843-2A>C)
c.3353-2A>C (n.3353-2A>C)
10g.71798352A>GCA377157610CDH23c.6830-2A>G (n.6830-2A>G)
c.763-2A>G (n.763-2A>G)
c.427-2A>G (n.427-2A>G)
c.6845-2A>G (n.6845-2A>G)
c.110-2A>G (n.110-2A>G)
n.366-2A>G
c.7025-2A>G (n.7025-2A>G)
c.6959-2A>G (n.6959-2A>G)
c.7022-2A>G (n.7022-2A>G)
c.7019-2A>G (n.7019-2A>G)
c.6965-2A>G (n.6965-2A>G)
c.6935-2A>G (n.6935-2A>G)
c.6890-2A>G (n.6890-2A>G)
c.6485-2A>G (n.6485-2A>G)
c.5843-2A>G (n.5843-2A>G)
c.3353-2A>G (n.3353-2A>G)
10g.71798352A>TCA377157613CDH23c.6830-2A>T (n.6830-2A>T)
c.763-2A>T (n.763-2A>T)
c.427-2A>T (n.427-2A>T)
c.6845-2A>T (n.6845-2A>T)
c.110-2A>T (n.110-2A>T)
n.366-2A>T
c.7025-2A>T (n.7025-2A>T)
c.6959-2A>T (n.6959-2A>T)
c.7022-2A>T (n.7022-2A>T)
c.7019-2A>T (n.7019-2A>T)
c.6965-2A>T (n.6965-2A>T)
c.6935-2A>T (n.6935-2A>T)
c.6890-2A>T (n.6890-2A>T)
c.6485-2A>T (n.6485-2A>T)
c.5843-2A>T (n.5843-2A>T)
c.3353-2A>T (n.3353-2A>T)
10g.71798353G>ACA377157617CDH23c.6830-1G>A (n.6830-1G>A)
c.763-1G>A (n.763-1G>A)
c.427-1G>A (n.427-1G>A)
c.6845-1G>A (n.6845-1G>A)
c.110-1G>A (n.110-1G>A)
n.366-1G>A
c.7025-1G>A (n.7025-1G>A)
c.6959-1G>A (n.6959-1G>A)
c.7022-1G>A (n.7022-1G>A)
c.7019-1G>A (n.7019-1G>A)
c.6965-1G>A (n.6965-1G>A)
c.6935-1G>A (n.6935-1G>A)
c.6890-1G>A (n.6890-1G>A)
c.6485-1G>A (n.6485-1G>A)
c.5843-1G>A (n.5843-1G>A)
c.3353-1G>A (n.3353-1G>A)
10g.71798353G>CCA377157619CDH23c.6830-1G>C (n.6830-1G>C)
c.763-1G>C (n.763-1G>C)
c.427-1G>C (n.427-1G>C)
c.6845-1G>C (n.6845-1G>C)
c.110-1G>C (n.110-1G>C)
n.366-1G>C
c.7025-1G>C (n.7025-1G>C)
c.6959-1G>C (n.6959-1G>C)
c.7022-1G>C (n.7022-1G>C)
c.7019-1G>C (n.7019-1G>C)
c.6965-1G>C (n.6965-1G>C)
c.6935-1G>C (n.6935-1G>C)
c.6890-1G>C (n.6890-1G>C)
c.6485-1G>C (n.6485-1G>C)
c.5843-1G>C (n.5843-1G>C)
c.3353-1G>C (n.3353-1G>C)
 dbSNP
10g.71798353G>TCA377157622CDH23c.6830-1G>T (n.6830-1G>T)
c.763-1G>T (n.763-1G>T)
c.427-1G>T (n.427-1G>T)
c.6845-1G>T (n.6845-1G>T)
c.110-1G>T (n.110-1G>T)
n.366-1G>T
c.7025-1G>T (n.7025-1G>T)
c.6959-1G>T (n.6959-1G>T)
c.7022-1G>T (n.7022-1G>T)
c.7019-1G>T (n.7019-1G>T)
c.6965-1G>T (n.6965-1G>T)
c.6935-1G>T (n.6935-1G>T)
c.6890-1G>T (n.6890-1G>T)
c.6485-1G>T (n.6485-1G>T)
c.5843-1G>T (n.5843-1G>T)
c.3353-1G>T (n.3353-1G>T)
10g.71798353_71798354delinsGCCA1918878399CDH23c.6830-1_6830delinsGC
c.763-1_763delinsGC
c.427-1_427delinsGC
c.6845-1_6845delinsGC
c.110-1_110delinsGC
n.366-1_366delinsGC
c.7025-1_7025delinsGC
c.6959-1_6959delinsGC
c.7022-1_7022delinsGC
c.7019-1_7019delinsGC
c.6965-1_6965delinsGC
c.6935-1_6935delinsGC
c.6890-1_6890delinsGC
c.6485-1_6485delinsGC
c.5843-1_5843delinsGC
c.3353-1_3353delinsGC
10g.71798354C>ACA377157625CDH23c.6830C>A (p.Ala2277Asp)
c.763C>A (n.763C>A)
c.427C>A (n.427C>A)
c.6845C>A (p.Ala2282Asp)
c.110C>A (p.Ala37Asp)
n.366C>A
c.7025C>A (p.Ala2342Asp)
c.6959C>A (p.Ala2320Asp)
c.7022C>A (p.Ala2341Asp)
c.7019C>A (p.Ala2340Asp)
c.6965C>A (p.Ala2322Asp)
c.6935C>A (p.Ala2312Asp)
c.6890C>A (p.Ala2297Asp)
c.6485C>A (p.Ala2162Asp)
c.5843C>A (p.Ala1948Asp)
c.3353C>A (p.Ala1118Asp)
10g.71798354C>GCA377157626CDH23c.6830C>G (p.Ala2277Gly)
c.763C>G (n.763C>G)
c.427C>G (n.427C>G)
c.6845C>G (p.Ala2282Gly)
c.110C>G (p.Ala37Gly)
n.366C>G
c.7025C>G (p.Ala2342Gly)
c.6959C>G (p.Ala2320Gly)
c.7022C>G (p.Ala2341Gly)
c.7019C>G (p.Ala2340Gly)
c.6965C>G (p.Ala2322Gly)
c.6935C>G (p.Ala2312Gly)
c.6890C>G (p.Ala2297Gly)
c.6485C>G (p.Ala2162Gly)
c.5843C>G (p.Ala1948Gly)
c.3353C>G (p.Ala1118Gly)
10g.71798354C>TCA377157628CDH23c.6830C>T (p.Ala2277Val)
c.763C>T (n.763C>T)
c.427C>T (n.427C>T)
c.6845C>T (p.Ala2282Val)
c.110C>T (p.Ala37Val)
n.366C>T
c.7025C>T (p.Ala2342Val)
c.6959C>T (p.Ala2320Val)
c.7022C>T (p.Ala2341Val)
c.7019C>T (p.Ala2340Val)
c.6965C>T (p.Ala2322Val)
c.6935C>T (p.Ala2312Val)
c.6890C>T (p.Ala2297Val)
c.6485C>T (p.Ala2162Val)
c.5843C>T (p.Ala1948Val)
c.3353C>T (p.Ala1118Val)
10g.71798355delCA594706160CDH23c.6831del (p.Lys2278SerfsTer2)
c.764del (n.764del)
c.428del (n.428del)
c.6846del (p.Lys2283SerfsTer2)
c.111del (p.Lys38SerfsTer2)
n.367del
c.7026del (p.Lys2343SerfsTer2)
c.6960del (p.Lys2321SerfsTer2)
c.7023del (p.Lys2342SerfsTer2)
c.7020del (p.Lys2341SerfsTer2)
c.6966del (p.Lys2323SerfsTer2)
c.6936del (p.Lys2313SerfsTer2)
c.6891del (p.Lys2298SerfsTer2)
c.6486del (p.Lys2163SerfsTer2)
c.5844del (p.Lys1949SerfsTer2)
c.3354del (p.Lys1119SerfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798355C>ACA470061917CDH23c.6831C>A (p.Ala2277=)
c.764C>A (n.764C>A)
c.428C>A (n.428C>A)
c.6846C>A (p.Ala2282=)
c.111C>A (p.Ala37=)
n.367C>A
c.7026C>A (p.Ala2342=)
c.6960C>A (p.Ala2320=)
c.7023C>A (p.Ala2341=)
c.7020C>A (p.Ala2340=)
c.6966C>A (p.Ala2322=)
c.6936C>A (p.Ala2312=)
c.6891C>A (p.Ala2297=)
c.6486C>A (p.Ala2162=)
c.5844C>A (p.Ala1948=)
c.3354C>A (p.Ala1118=)
10g.71798355C>GCA470061918CDH23c.6831C>G (p.Ala2277=)
c.764C>G (n.764C>G)
c.428C>G (n.428C>G)
c.6846C>G (p.Ala2282=)
c.111C>G (p.Ala37=)
n.367C>G
c.7026C>G (p.Ala2342=)
c.6960C>G (p.Ala2320=)
c.7023C>G (p.Ala2341=)
c.7020C>G (p.Ala2340=)
c.6966C>G (p.Ala2322=)
c.6936C>G (p.Ala2312=)
c.6891C>G (p.Ala2297=)
c.6486C>G (p.Ala2162=)
c.5844C>G (p.Ala1948=)
c.3354C>G (p.Ala1118=)
10g.71798355C>TCA470061919CDH23c.6831C>T (p.Ala2277=)
c.764C>T (n.764C>T)
c.428C>T (n.428C>T)
c.6846C>T (p.Ala2282=)
c.111C>T (p.Ala37=)
n.367C>T
c.7026C>T (p.Ala2342=)
c.6960C>T (p.Ala2320=)
c.7023C>T (p.Ala2341=)
c.7020C>T (p.Ala2340=)
c.6966C>T (p.Ala2322=)
c.6936C>T (p.Ala2312=)
c.6891C>T (p.Ala2297=)
c.6486C>T (p.Ala2162=)
c.5844C>T (p.Ala1948=)
c.3354C>T (p.Ala1118=)
10g.71798355_71798360delinsCAAGCTCA1918878400CDH23c.6831_6836delinsCAAGCT (p.Ala2277=)
c.764_769delinsCAAGCT (n.764_769delinsCAAGCT)
c.428_433delinsCAAGCT (n.428_433delinsCAAGCT)
c.6846_6851delinsCAAGCT (p.Ala2282=)
c.111_116delinsCAAGCT (p.Ala37=)
n.367_372delinsCAAGCT
c.7026_7031delinsCAAGCT (p.Ala2342=)
c.6960_6965delinsCAAGCT (p.Ala2320=)
c.7023_7028delinsCAAGCT (p.Ala2341=)
c.7020_7025delinsCAAGCT (p.Ala2340=)
c.6966_6971delinsCAAGCT (p.Ala2322=)
c.6936_6941delinsCAAGCT (p.Ala2312=)
c.6891_6896delinsCAAGCT (p.Ala2297=)
c.6486_6491delinsCAAGCT (p.Ala2162=)
c.5844_5849delinsCAAGCT (p.Ala1948=)
c.3354_3359delinsCAAGCT (p.Ala1118=)
10g.71798356A>CCA377157630CDH23c.6832A>C (p.Lys2278Gln)
c.765A>C (n.765A>C)
c.429A>C (n.429A>C)
c.6847A>C (p.Lys2283Gln)
c.112A>C (p.Lys38Gln)
n.368A>C
c.7027A>C (p.Lys2343Gln)
c.6961A>C (p.Lys2321Gln)
c.7024A>C (p.Lys2342Gln)
c.7021A>C (p.Lys2341Gln)
c.6967A>C (p.Lys2323Gln)
c.6937A>C (p.Lys2313Gln)
c.6892A>C (p.Lys2298Gln)
c.6487A>C (p.Lys2163Gln)
c.5845A>C (p.Lys1949Gln)
c.3355A>C (p.Lys1119Gln)
10g.71798356A>GCA377157632CDH23c.6832A>G (p.Lys2278Glu)
c.765A>G (n.765A>G)
c.429A>G (n.429A>G)
c.6847A>G (p.Lys2283Glu)
c.112A>G (p.Lys38Glu)
n.368A>G
c.7027A>G (p.Lys2343Glu)
c.6961A>G (p.Lys2321Glu)
c.7024A>G (p.Lys2342Glu)
c.7021A>G (p.Lys2341Glu)
c.6967A>G (p.Lys2323Glu)
c.6937A>G (p.Lys2313Glu)
c.6892A>G (p.Lys2298Glu)
c.6487A>G (p.Lys2163Glu)
c.5845A>G (p.Lys1949Glu)
c.3355A>G (p.Lys1119Glu)
10g.71798356A>TCA377157634CDH23c.6832A>T (p.Lys2278Ter)
c.765A>T (n.765A>T)
c.429A>T (n.429A>T)
c.6847A>T (p.Lys2283Ter)
c.112A>T (p.Lys38Ter)
n.368A>T
c.7027A>T (p.Lys2343Ter)
c.6961A>T (p.Lys2321Ter)
c.7024A>T (p.Lys2342Ter)
c.7021A>T (p.Lys2341Ter)
c.6967A>T (p.Lys2323Ter)
c.6937A>T (p.Lys2313Ter)
c.6892A>T (p.Lys2298Ter)
c.6487A>T (p.Lys2163Ter)
c.5845A>T (p.Lys1949Ter)
c.3355A>T (p.Lys1119Ter)
10g.71798356_71798360delCA594706161CDH23c.6832_6836del (p.Lys2278AspfsTer9)
c.765_769del (n.765_769del)
c.429_433del (n.429_433del)
c.6847_6851del (p.Lys2283AspfsTer9)
c.112_116del (p.Lys38AspfsTer9)
n.368_372del
c.7027_7031del (p.Lys2343AspfsTer9)
c.6961_6965del (p.Lys2321AspfsTer9)
c.7024_7028del (p.Lys2342AspfsTer9)
c.7021_7025del (p.Lys2341AspfsTer9)
c.6967_6971del (p.Lys2323AspfsTer9)
c.6937_6941del (p.Lys2313AspfsTer9)
c.6892_6896del (p.Lys2298AspfsTer9)
c.6487_6491del (p.Lys2163AspfsTer9)
c.5845_5849del (p.Lys1949AspfsTer9)
c.3355_3359del (p.Lys1119AspfsTer9)
 dbSNP gnomAD v2 gnomAD v4
10g.71798357A=CA1918878401CDH23c.6833A= (p.Lys2278=)
c.766A= (n.766A=)
c.430A= (n.430A=)
c.6848A= (p.Lys2283=)
c.113A= (p.Lys38=)
n.369A=
c.7028A= (p.Lys2343=)
c.6962A= (p.Lys2321=)
c.7025A= (p.Lys2342=)
c.7022A= (p.Lys2341=)
c.6968A= (p.Lys2323=)
c.6938A= (p.Lys2313=)
c.6893A= (p.Lys2298=)
c.6488A= (p.Lys2163=)
c.5846A= (p.Lys1949=)
c.3356A= (p.Lys1119=)
10g.71798357A>CCA377157635CDH23c.6833A>C (p.Lys2278Thr)
c.766A>C (n.766A>C)
c.430A>C (n.430A>C)
c.6848A>C (p.Lys2283Thr)
c.113A>C (p.Lys38Thr)
n.369A>C
c.7028A>C (p.Lys2343Thr)
c.6962A>C (p.Lys2321Thr)
c.7025A>C (p.Lys2342Thr)
c.7022A>C (p.Lys2341Thr)
c.6968A>C (p.Lys2323Thr)
c.6938A>C (p.Lys2313Thr)
c.6893A>C (p.Lys2298Thr)
c.6488A>C (p.Lys2163Thr)
c.5846A>C (p.Lys1949Thr)
c.3356A>C (p.Lys1119Thr)
10g.71798357A>GCA377157636CDH23c.6833A>G (p.Lys2278Arg)
c.766A>G (n.766A>G)
c.430A>G (n.430A>G)
c.6848A>G (p.Lys2283Arg)
c.113A>G (p.Lys38Arg)
n.369A>G
c.7028A>G (p.Lys2343Arg)
c.6962A>G (p.Lys2321Arg)
c.7025A>G (p.Lys2342Arg)
c.7022A>G (p.Lys2341Arg)
c.6968A>G (p.Lys2323Arg)
c.6938A>G (p.Lys2313Arg)
c.6893A>G (p.Lys2298Arg)
c.6488A>G (p.Lys2163Arg)
c.5846A>G (p.Lys1949Arg)
c.3356A>G (p.Lys1119Arg)
 dbSNP
10g.71798357A>TCA377157637CDH23c.6833A>T (p.Lys2278Met)
c.766A>T (n.766A>T)
c.430A>T (n.430A>T)
c.6848A>T (p.Lys2283Met)
c.113A>T (p.Lys38Met)
n.369A>T
c.7028A>T (p.Lys2343Met)
c.6962A>T (p.Lys2321Met)
c.7025A>T (p.Lys2342Met)
c.7022A>T (p.Lys2341Met)
c.6968A>T (p.Lys2323Met)
c.6938A>T (p.Lys2313Met)
c.6893A>T (p.Lys2298Met)
c.6488A>T (p.Lys2163Met)
c.5846A>T (p.Lys1949Met)
c.3356A>T (p.Lys1119Met)
10g.71798358G>ACA470061922CDH23c.6834G>A (p.Lys2278=)
c.767G>A (n.767G>A)
c.431G>A (n.431G>A)
c.6849G>A (p.Lys2283=)
c.114G>A (p.Lys38=)
n.370G>A
c.7029G>A (p.Lys2343=)
c.6963G>A (p.Lys2321=)
c.7026G>A (p.Lys2342=)
c.7023G>A (p.Lys2341=)
c.6969G>A (p.Lys2323=)
c.6939G>A (p.Lys2313=)
c.6894G>A (p.Lys2298=)
c.6489G>A (p.Lys2163=)
c.5847G>A (p.Lys1949=)
c.3357G>A (p.Lys1119=)
10g.71798358G>CCA377157638CDH23c.6834G>C (p.Lys2278Asn)
c.767G>C (n.767G>C)
c.431G>C (n.431G>C)
c.6849G>C (p.Lys2283Asn)
c.114G>C (p.Lys38Asn)
n.370G>C
c.7029G>C (p.Lys2343Asn)
c.6963G>C (p.Lys2321Asn)
c.7026G>C (p.Lys2342Asn)
c.7023G>C (p.Lys2341Asn)
c.6969G>C (p.Lys2323Asn)
c.6939G>C (p.Lys2313Asn)
c.6894G>C (p.Lys2298Asn)
c.6489G>C (p.Lys2163Asn)
c.5847G>C (p.Lys1949Asn)
c.3357G>C (p.Lys1119Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.71798358G=CA1918878402CDH23c.6834G= (p.Lys2278=)
c.767G= (n.767G=)
c.431G= (n.431G=)
c.6849G= (p.Lys2283=)
c.114G= (p.Lys38=)
n.370G=
c.7029G= (p.Lys2343=)
c.6963G= (p.Lys2321=)
c.7026G= (p.Lys2342=)
c.7023G= (p.Lys2341=)
c.6969G= (p.Lys2323=)
c.6939G= (p.Lys2313=)
c.6894G= (p.Lys2298=)
c.6489G= (p.Lys2163=)
c.5847G= (p.Lys1949=)
c.3357G= (p.Lys1119=)
10g.71798358G>TCA377157639CDH23c.6834G>T (p.Lys2278Asn)
c.767G>T (n.767G>T)
c.431G>T (n.431G>T)
c.6849G>T (p.Lys2283Asn)
c.114G>T (p.Lys38Asn)
n.370G>T
c.7029G>T (p.Lys2343Asn)
c.6963G>T (p.Lys2321Asn)
c.7026G>T (p.Lys2342Asn)
c.7023G>T (p.Lys2341Asn)
c.6969G>T (p.Lys2323Asn)
c.6939G>T (p.Lys2313Asn)
c.6894G>T (p.Lys2298Asn)
c.6489G>T (p.Lys2163Asn)
c.5847G>T (p.Lys1949Asn)
c.3357G>T (p.Lys1119Asn)
10g.71798358_71798362delinsGCTGACA1918878403CDH23c.6834_6838delinsGCTGA (p.Lys2278=)
c.767_771delinsGCTGA (n.767_771delinsGCTGA)
c.431_435delinsGCTGA (n.431_435delinsGCTGA)
c.6849_6853delinsGCTGA (p.Lys2283=)
c.114_118delinsGCTGA (p.Lys38=)
n.370_374delinsGCTGA
c.7029_7033delinsGCTGA (p.Lys2343=)
c.6963_6967delinsGCTGA (p.Lys2321=)
c.7026_7030delinsGCTGA (p.Lys2342=)
c.7023_7027delinsGCTGA (p.Lys2341=)
c.6969_6973delinsGCTGA (p.Lys2323=)
c.6939_6943delinsGCTGA (p.Lys2313=)
c.6894_6898delinsGCTGA (p.Lys2298=)
c.6489_6493delinsGCTGA (p.Lys2163=)
c.5847_5851delinsGCTGA (p.Lys1949=)
c.3357_3361delinsGCTGA (p.Lys1119=)
10g.71798359C>ACA377157640CDH23c.6835C>A (p.Leu2279Met)
c.768C>A (n.768C>A)
c.432C>A (n.432C>A)
c.6850C>A (p.Leu2284Met)
c.115C>A (p.Leu39Met)
n.371C>A
c.7030C>A (p.Leu2344Met)
c.6964C>A (p.Leu2322Met)
c.7027C>A (p.Leu2343Met)
c.7024C>A (p.Leu2342Met)
c.6970C>A (p.Leu2324Met)
c.6940C>A (p.Leu2314Met)
c.6895C>A (p.Leu2299Met)
c.6490C>A (p.Leu2164Met)
c.5848C>A (p.Leu1950Met)
c.3358C>A (p.Leu1120Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798359C=CA1918878404CDH23c.6835C= (p.Leu2279=)
c.768C= (n.768C=)
c.432C= (n.432C=)
c.6850C= (p.Leu2284=)
c.115C= (p.Leu39=)
n.371C=
c.7030C= (p.Leu2344=)
c.6964C= (p.Leu2322=)
c.7027C= (p.Leu2343=)
c.7024C= (p.Leu2342=)
c.6970C= (p.Leu2324=)
c.6940C= (p.Leu2314=)
c.6895C= (p.Leu2299=)
c.6490C= (p.Leu2164=)
c.5848C= (p.Leu1950=)
c.3358C= (p.Leu1120=)
10g.71798359C>GCA377157641CDH23c.6835C>G (p.Leu2279Val)
c.768C>G (n.768C>G)
c.432C>G (n.432C>G)
c.6850C>G (p.Leu2284Val)
c.115C>G (p.Leu39Val)
n.371C>G
c.7030C>G (p.Leu2344Val)
c.6964C>G (p.Leu2322Val)
c.7027C>G (p.Leu2343Val)
c.7024C>G (p.Leu2342Val)
c.6970C>G (p.Leu2324Val)
c.6940C>G (p.Leu2314Val)
c.6895C>G (p.Leu2299Val)
c.6490C>G (p.Leu2164Val)
c.5848C>G (p.Leu1950Val)
c.3358C>G (p.Leu1120Val)
10g.71798359C>TCA470061926CDH23c.6835C>T (p.Leu2279=)
c.768C>T (n.768C>T)
c.432C>T (n.432C>T)
c.6850C>T (p.Leu2284=)
c.115C>T (p.Leu39=)
n.371C>T
c.7030C>T (p.Leu2344=)
c.6964C>T (p.Leu2322=)
c.7027C>T (p.Leu2343=)
c.7024C>T (p.Leu2342=)
c.6970C>T (p.Leu2324=)
c.6940C>T (p.Leu2314=)
c.6895C>T (p.Leu2299=)
c.6490C>T (p.Leu2164=)
c.5848C>T (p.Leu1950=)
c.3358C>T (p.Leu1120=)
10g.71798362_71798365delCA916083143CDH23c.6838_6841del (p.Thr2280SerfsTer?)
c.771_774del (n.771_774del)
c.435_438del (n.435_438del)
c.6853_6856del (p.Thr2285SerfsTer?)
c.118_121del (p.Thr40SerfsTer?)
n.374_377del
c.7033_7036del (p.Thr2345SerfsTer?)
c.6967_6970del (p.Thr2323SerfsTer?)
c.7030_7033del (p.Thr2344SerfsTer?)
c.7027_7030del (p.Thr2343SerfsTer?)
c.6973_6976del (p.Thr2325SerfsTer?)
c.6943_6946del (p.Thr2315SerfsTer?)
c.6898_6901del (p.Thr2300SerfsTer?)
c.6493_6496del (p.Thr2165SerfsTer?)
c.5851_5854del (p.Thr1951SerfsTer?)
c.3361_3364del (p.Thr1121SerfsTer?)
 ClinVar dbSNP
10g.71798360T>ACA377157642CDH23c.6836T>A (p.Leu2279Gln)
c.769T>A (n.769T>A)
c.433T>A (n.433T>A)
c.6851T>A (p.Leu2284Gln)
c.116T>A (p.Leu39Gln)
n.372T>A
c.7031T>A (p.Leu2344Gln)
c.6965T>A (p.Leu2322Gln)
c.7028T>A (p.Leu2343Gln)
c.7025T>A (p.Leu2342Gln)
c.6971T>A (p.Leu2324Gln)
c.6941T>A (p.Leu2314Gln)
c.6896T>A (p.Leu2299Gln)
c.6491T>A (p.Leu2164Gln)
c.5849T>A (p.Leu1950Gln)
c.3359T>A (p.Leu1120Gln)
10g.71798360T>CCA377157643CDH23c.6836T>C (p.Leu2279Pro)
c.769T>C (n.769T>C)
c.433T>C (n.433T>C)
c.6851T>C (p.Leu2284Pro)
c.116T>C (p.Leu39Pro)
n.372T>C
c.7031T>C (p.Leu2344Pro)
c.6965T>C (p.Leu2322Pro)
c.7028T>C (p.Leu2343Pro)
c.7025T>C (p.Leu2342Pro)
c.6971T>C (p.Leu2324Pro)
c.6941T>C (p.Leu2314Pro)
c.6896T>C (p.Leu2299Pro)
c.6491T>C (p.Leu2164Pro)
c.5849T>C (p.Leu1950Pro)
c.3359T>C (p.Leu1120Pro)
10g.71798360T>GCA377157644CDH23c.6836T>G (p.Leu2279Arg)
c.769T>G (n.769T>G)
c.433T>G (n.433T>G)
c.6851T>G (p.Leu2284Arg)
c.116T>G (p.Leu39Arg)
n.372T>G
c.7031T>G (p.Leu2344Arg)
c.6965T>G (p.Leu2322Arg)
c.7028T>G (p.Leu2343Arg)
c.7025T>G (p.Leu2342Arg)
c.6971T>G (p.Leu2324Arg)
c.6941T>G (p.Leu2314Arg)
c.6896T>G (p.Leu2299Arg)
c.6491T>G (p.Leu2164Arg)
c.5849T>G (p.Leu1950Arg)
c.3359T>G (p.Leu1120Arg)
10g.71798360dupCA2574455409CDH23c.6836dup (p.Thr2280AspfsTer9)
c.769dup (n.769dup)
c.433dup (n.433dup)
c.6851dup (p.Thr2285AspfsTer9)
c.116dup (p.Thr40AspfsTer9)
n.372dup
c.7031dup (p.Thr2345AspfsTer9)
c.6965dup (p.Thr2323AspfsTer9)
c.7028dup (p.Thr2344AspfsTer9)
c.7025dup (p.Thr2343AspfsTer9)
c.6971dup (p.Thr2325AspfsTer9)
c.6941dup (p.Thr2315AspfsTer9)
c.6896dup (p.Thr2300AspfsTer9)
c.6491dup (p.Thr2165AspfsTer9)
c.5849dup (p.Thr1951AspfsTer9)
c.3359dup (p.Thr1121AspfsTer9)
10g.71798361G>ACA470061927CDH23c.6837G>A (p.Leu2279=)
c.770G>A (n.770G>A)
c.434G>A (n.434G>A)
c.6852G>A (p.Leu2284=)
c.117G>A (p.Leu39=)
n.373G>A
c.7032G>A (p.Leu2344=)
c.6966G>A (p.Leu2322=)
c.7029G>A (p.Leu2343=)
c.7026G>A (p.Leu2342=)
c.6972G>A (p.Leu2324=)
c.6942G>A (p.Leu2314=)
c.6897G>A (p.Leu2299=)
c.6492G>A (p.Leu2164=)
c.5850G>A (p.Leu1950=)
c.3360G>A (p.Leu1120=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798361G>CCA470061929CDH23c.6837G>C (p.Leu2279=)
c.770G>C (n.770G>C)
c.434G>C (n.434G>C)
c.6852G>C (p.Leu2284=)
c.117G>C (p.Leu39=)
n.373G>C
c.7032G>C (p.Leu2344=)
c.6966G>C (p.Leu2322=)
c.7029G>C (p.Leu2343=)
c.7026G>C (p.Leu2342=)
c.6972G>C (p.Leu2324=)
c.6942G>C (p.Leu2314=)
c.6897G>C (p.Leu2299=)
c.6492G>C (p.Leu2164=)
c.5850G>C (p.Leu1950=)
c.3360G>C (p.Leu1120=)
10g.71798361G=CA1918878405CDH23c.6837G= (p.Leu2279=)
c.770G= (n.770G=)
c.434G= (n.434G=)
c.6852G= (p.Leu2284=)
c.117G= (p.Leu39=)
n.373G=
c.7032G= (p.Leu2344=)
c.6966G= (p.Leu2322=)
c.7029G= (p.Leu2343=)
c.7026G= (p.Leu2342=)
c.6972G= (p.Leu2324=)
c.6942G= (p.Leu2314=)
c.6897G= (p.Leu2299=)
c.6492G= (p.Leu2164=)
c.5850G= (p.Leu1950=)
c.3360G= (p.Leu1120=)
10g.71798361G>TCA470061928CDH23c.6837G>T (p.Leu2279=)
c.770G>T (n.770G>T)
c.434G>T (n.434G>T)
c.6852G>T (p.Leu2284=)
c.117G>T (p.Leu39=)
n.373G>T
c.7032G>T (p.Leu2344=)
c.6966G>T (p.Leu2322=)
c.7029G>T (p.Leu2343=)
c.7026G>T (p.Leu2342=)
c.6972G>T (p.Leu2324=)
c.6942G>T (p.Leu2314=)
c.6897G>T (p.Leu2299=)
c.6492G>T (p.Leu2164=)
c.5850G>T (p.Leu1950=)
c.3360G>T (p.Leu1120=)
10g.71798362A>CCA377157645CDH23c.6838A>C (p.Thr2280Pro)
c.771A>C (n.771A>C)
c.435A>C (n.435A>C)
c.6853A>C (p.Thr2285Pro)
c.118A>C (p.Thr40Pro)
n.374A>C
c.7033A>C (p.Thr2345Pro)
c.6967A>C (p.Thr2323Pro)
c.7030A>C (p.Thr2344Pro)
c.7027A>C (p.Thr2343Pro)
c.6973A>C (p.Thr2325Pro)
c.6943A>C (p.Thr2315Pro)
c.6898A>C (p.Thr2300Pro)
c.6493A>C (p.Thr2165Pro)
c.5851A>C (p.Thr1951Pro)
c.3361A>C (p.Thr1121Pro)
10g.71798362A>GCA377157646CDH23c.6838A>G (p.Thr2280Ala)
c.771A>G (n.771A>G)
c.435A>G (n.435A>G)
c.6853A>G (p.Thr2285Ala)
c.118A>G (p.Thr40Ala)
n.374A>G
c.7033A>G (p.Thr2345Ala)
c.6967A>G (p.Thr2323Ala)
c.7030A>G (p.Thr2344Ala)
c.7027A>G (p.Thr2343Ala)
c.6973A>G (p.Thr2325Ala)
c.6943A>G (p.Thr2315Ala)
c.6898A>G (p.Thr2300Ala)
c.6493A>G (p.Thr2165Ala)
c.5851A>G (p.Thr1951Ala)
c.3361A>G (p.Thr1121Ala)
10g.71798362A>TCA377157647CDH23c.6838A>T (p.Thr2280Ser)
c.771A>T (n.771A>T)
c.435A>T (n.435A>T)
c.6853A>T (p.Thr2285Ser)
c.118A>T (p.Thr40Ser)
n.374A>T
c.7033A>T (p.Thr2345Ser)
c.6967A>T (p.Thr2323Ser)
c.7030A>T (p.Thr2344Ser)
c.7027A>T (p.Thr2343Ser)
c.6973A>T (p.Thr2325Ser)
c.6943A>T (p.Thr2315Ser)
c.6898A>T (p.Thr2300Ser)
c.6493A>T (p.Thr2165Ser)
c.5851A>T (p.Thr1951Ser)
c.3361A>T (p.Thr1121Ser)
10g.71798363C>ACA377157648CDH23c.6839C>A (p.Thr2280Asn)
c.772C>A (n.772C>A)
c.436C>A (n.436C>A)
c.6854C>A (p.Thr2285Asn)
c.119C>A (p.Thr40Asn)
n.375C>A
c.7034C>A (p.Thr2345Asn)
c.6968C>A (p.Thr2323Asn)
c.7031C>A (p.Thr2344Asn)
c.7028C>A (p.Thr2343Asn)
c.6974C>A (p.Thr2325Asn)
c.6944C>A (p.Thr2315Asn)
c.6899C>A (p.Thr2300Asn)
c.6494C>A (p.Thr2165Asn)
c.5852C>A (p.Thr1951Asn)
c.3362C>A (p.Thr1121Asn)
10g.71798363C>GCA377157649CDH23c.6839C>G (p.Thr2280Ser)
c.772C>G (n.772C>G)
c.436C>G (n.436C>G)
c.6854C>G (p.Thr2285Ser)
c.119C>G (p.Thr40Ser)
n.375C>G
c.7034C>G (p.Thr2345Ser)
c.6968C>G (p.Thr2323Ser)
c.7031C>G (p.Thr2344Ser)
c.7028C>G (p.Thr2343Ser)
c.6974C>G (p.Thr2325Ser)
c.6944C>G (p.Thr2315Ser)
c.6899C>G (p.Thr2300Ser)
c.6494C>G (p.Thr2165Ser)
c.5852C>G (p.Thr1951Ser)
c.3362C>G (p.Thr1121Ser)
10g.71798363C>TCA377157650CDH23c.6839C>T (p.Thr2280Ile)
c.772C>T (n.772C>T)
c.436C>T (n.436C>T)
c.6854C>T (p.Thr2285Ile)
c.119C>T (p.Thr40Ile)
n.375C>T
c.7034C>T (p.Thr2345Ile)
c.6968C>T (p.Thr2323Ile)
c.7031C>T (p.Thr2344Ile)
c.7028C>T (p.Thr2343Ile)
c.6974C>T (p.Thr2325Ile)
c.6944C>T (p.Thr2315Ile)
c.6899C>T (p.Thr2300Ile)
c.6494C>T (p.Thr2165Ile)
c.5852C>T (p.Thr1951Ile)
c.3362C>T (p.Thr1121Ile)
10g.71798364delCA2580081836CDH23c.6840del (p.Val2281SerfsTer?)
c.773del (n.773del)
c.437del (n.437del)
c.6855del (p.Val2286SerfsTer?)
c.120del (p.Val41SerfsTer?)
n.376del
c.7035del (p.Val2346SerfsTer?)
c.6969del (p.Val2324SerfsTer?)
c.7032del (p.Val2345SerfsTer?)
c.7029del (p.Val2344SerfsTer?)
c.6975del (p.Val2326SerfsTer?)
c.6945del (p.Val2316SerfsTer?)
c.6900del (p.Val2301SerfsTer?)
c.6495del (p.Val2166SerfsTer?)
c.5853del (p.Val1952SerfsTer?)
c.3363del (p.Val1122SerfsTer?)
 ClinVar
10g.71798364T>ACA470061931CDH23c.6840T>A (p.Thr2280=)
c.773T>A (n.773T>A)
c.437T>A (n.437T>A)
c.6855T>A (p.Thr2285=)
c.120T>A (p.Thr40=)
n.376T>A
c.7035T>A (p.Thr2345=)
c.6969T>A (p.Thr2323=)
c.7032T>A (p.Thr2344=)
c.7029T>A (p.Thr2343=)
c.6975T>A (p.Thr2325=)
c.6945T>A (p.Thr2315=)
c.6900T>A (p.Thr2300=)
c.6495T>A (p.Thr2165=)
c.5853T>A (p.Thr1951=)
c.3363T>A (p.Thr1121=)
10g.71798364T>CCA470061935CDH23c.6840T>C (p.Thr2280=)
c.773T>C (n.773T>C)
c.437T>C (n.437T>C)
c.6855T>C (p.Thr2285=)
c.120T>C (p.Thr40=)
n.376T>C
c.7035T>C (p.Thr2345=)
c.6969T>C (p.Thr2323=)
c.7032T>C (p.Thr2344=)
c.7029T>C (p.Thr2343=)
c.6975T>C (p.Thr2325=)
c.6945T>C (p.Thr2315=)
c.6900T>C (p.Thr2300=)
c.6495T>C (p.Thr2165=)
c.5853T>C (p.Thr1951=)
c.3363T>C (p.Thr1121=)
10g.71798364T>GCA470061933CDH23c.6840T>G (p.Thr2280=)
c.773T>G (n.773T>G)
c.437T>G (n.437T>G)
c.6855T>G (p.Thr2285=)
c.120T>G (p.Thr40=)
n.376T>G
c.7035T>G (p.Thr2345=)
c.6969T>G (p.Thr2323=)
c.7032T>G (p.Thr2344=)
c.7029T>G (p.Thr2343=)
c.6975T>G (p.Thr2325=)
c.6945T>G (p.Thr2315=)
c.6900T>G (p.Thr2300=)
c.6495T>G (p.Thr2165=)
c.5853T>G (p.Thr1951=)
c.3363T>G (p.Thr1121=)
10g.71798365G>ACA377157653CDH23c.6841G>A (p.Val2281Ile)
c.774G>A (n.774G>A)
c.438G>A (n.438G>A)
c.6856G>A (p.Val2286Ile)
c.121G>A (p.Val41Ile)
n.377G>A
c.7036G>A (p.Val2346Ile)
c.6970G>A (p.Val2324Ile)
c.7033G>A (p.Val2345Ile)
c.7030G>A (p.Val2344Ile)
c.6976G>A (p.Val2326Ile)
c.6946G>A (p.Val2316Ile)
c.6901G>A (p.Val2301Ile)
c.6496G>A (p.Val2166Ile)
c.5854G>A (p.Val1952Ile)
c.3364G>A (p.Val1122Ile)
 ClinVar dbSNP gnomAD v4
10g.71798365G>CCA377157652CDH23c.6841G>C (p.Val2281Leu)
c.774G>C (n.774G>C)
c.438G>C (n.438G>C)
c.6856G>C (p.Val2286Leu)
c.121G>C (p.Val41Leu)
n.377G>C
c.7036G>C (p.Val2346Leu)
c.6970G>C (p.Val2324Leu)
c.7033G>C (p.Val2345Leu)
c.7030G>C (p.Val2344Leu)
c.6976G>C (p.Val2326Leu)
c.6946G>C (p.Val2316Leu)
c.6901G>C (p.Val2301Leu)
c.6496G>C (p.Val2166Leu)
c.5854G>C (p.Val1952Leu)
c.3364G>C (p.Val1122Leu)
10g.71798365G>TCA377157651CDH23c.6841G>T (p.Val2281Phe)
c.774G>T (n.774G>T)
c.438G>T (n.438G>T)
c.6856G>T (p.Val2286Phe)
c.121G>T (p.Val41Phe)
n.377G>T
c.7036G>T (p.Val2346Phe)
c.6970G>T (p.Val2324Phe)
c.7033G>T (p.Val2345Phe)
c.7030G>T (p.Val2344Phe)
c.6976G>T (p.Val2326Phe)
c.6946G>T (p.Val2316Phe)
c.6901G>T (p.Val2301Phe)
c.6496G>T (p.Val2166Phe)
c.5854G>T (p.Val1952Phe)
c.3364G>T (p.Val1122Phe)
10g.71798366T>ACA377157654CDH23c.6842T>A (p.Val2281Asp)
c.775T>A (n.775T>A)
c.439T>A (n.439T>A)
c.6857T>A (p.Val2286Asp)
c.122T>A (p.Val41Asp)
n.378T>A
c.7037T>A (p.Val2346Asp)
c.6971T>A (p.Val2324Asp)
c.7034T>A (p.Val2345Asp)
c.7031T>A (p.Val2344Asp)
c.6977T>A (p.Val2326Asp)
c.6947T>A (p.Val2316Asp)
c.6902T>A (p.Val2301Asp)
c.6497T>A (p.Val2166Asp)
c.5855T>A (p.Val1952Asp)
c.3365T>A (p.Val1122Asp)
10g.71798366T>CCA377157658CDH23c.6842T>C (p.Val2281Ala)
c.775T>C (n.775T>C)
c.439T>C (n.439T>C)
c.6857T>C (p.Val2286Ala)
c.122T>C (p.Val41Ala)
n.378T>C
c.7037T>C (p.Val2346Ala)
c.6971T>C (p.Val2324Ala)
c.7034T>C (p.Val2345Ala)
c.7031T>C (p.Val2344Ala)
c.6977T>C (p.Val2326Ala)
c.6947T>C (p.Val2316Ala)
c.6902T>C (p.Val2301Ala)
c.6497T>C (p.Val2166Ala)
c.5855T>C (p.Val1952Ala)
c.3365T>C (p.Val1122Ala)
10g.71798366T>GCA377157656CDH23c.6842T>G (p.Val2281Gly)
c.775T>G (n.775T>G)
c.439T>G (n.439T>G)
c.6857T>G (p.Val2286Gly)
c.122T>G (p.Val41Gly)
n.378T>G
c.7037T>G (p.Val2346Gly)
c.6971T>G (p.Val2324Gly)
c.7034T>G (p.Val2345Gly)
c.7031T>G (p.Val2344Gly)
c.6977T>G (p.Val2326Gly)
c.6947T>G (p.Val2316Gly)
c.6902T>G (p.Val2301Gly)
c.6497T>G (p.Val2166Gly)
c.5855T>G (p.Val1952Gly)
c.3365T>G (p.Val1122Gly)
10g.71798367C>ACA470061938CDH23c.6843C>A (p.Val2281=)
c.776C>A (n.776C>A)
c.440C>A (n.440C>A)
c.6858C>A (p.Val2286=)
c.123C>A (p.Val41=)
n.379C>A
c.7038C>A (p.Val2346=)
c.6972C>A (p.Val2324=)
c.7035C>A (p.Val2345=)
c.7032C>A (p.Val2344=)
c.6978C>A (p.Val2326=)
c.6948C>A (p.Val2316=)
c.6903C>A (p.Val2301=)
c.6498C>A (p.Val2166=)
c.5856C>A (p.Val1952=)
c.3366C>A (p.Val1122=)
10g.71798367C=CA1918878406CDH23c.6843C= (p.Val2281=)
c.776C= (n.776C=)
c.440C= (n.440C=)
c.6858C= (p.Val2286=)
c.123C= (p.Val41=)
n.379C=
c.7038C= (p.Val2346=)
c.6972C= (p.Val2324=)
c.7035C= (p.Val2345=)
c.7032C= (p.Val2344=)
c.6978C= (p.Val2326=)
c.6948C= (p.Val2316=)
c.6903C= (p.Val2301=)
c.6498C= (p.Val2166=)
c.5856C= (p.Val1952=)
c.3366C= (p.Val1122=)
10g.71798367C>GCA470061937CDH23c.6843C>G (p.Val2281=)
c.776C>G (n.776C>G)
c.440C>G (n.440C>G)
c.6858C>G (p.Val2286=)
c.123C>G (p.Val41=)
n.379C>G
c.7038C>G (p.Val2346=)
c.6972C>G (p.Val2324=)
c.7035C>G (p.Val2345=)
c.7032C>G (p.Val2344=)
c.6978C>G (p.Val2326=)
c.6948C>G (p.Val2316=)
c.6903C>G (p.Val2301=)
c.6498C>G (p.Val2166=)
c.5856C>G (p.Val1952=)
c.3366C>G (p.Val1122=)
 dbSNP
10g.71798367C>TCA470061936CDH23c.6843C>T (p.Val2281=)
c.776C>T (n.776C>T)
c.440C>T (n.440C>T)
c.6858C>T (p.Val2286=)
c.123C>T (p.Val41=)
n.379C>T
c.7038C>T (p.Val2346=)
c.6972C>T (p.Val2324=)
c.7035C>T (p.Val2345=)
c.7032C>T (p.Val2344=)
c.6978C>T (p.Val2326=)
c.6948C>T (p.Val2316=)
c.6903C>T (p.Val2301=)
c.6498C>T (p.Val2166=)
c.5856C>T (p.Val1952=)
c.3366C>T (p.Val1122=)
 dbSNP
10g.71798368A>CCA377157659CDH23c.6844A>C (p.Asn2282His)
c.777A>C (n.777A>C)
c.441A>C (n.441A>C)
c.6859A>C (p.Asn2287His)
c.124A>C (p.Asn42His)
n.380A>C
c.7039A>C (p.Asn2347His)
c.6973A>C (p.Asn2325His)
c.7036A>C (p.Asn2346His)
c.7033A>C (p.Asn2345His)
c.6979A>C (p.Asn2327His)
c.6949A>C (p.Asn2317His)
c.6904A>C (p.Asn2302His)
c.6499A>C (p.Asn2167His)
c.5857A>C (p.Asn1953His)
c.3367A>C (p.Asn1123His)
10g.71798368A>GCA377157661CDH23c.6844A>G (p.Asn2282Asp)
c.777A>G (n.777A>G)
c.441A>G (n.441A>G)
c.6859A>G (p.Asn2287Asp)
c.124A>G (p.Asn42Asp)
n.380A>G
c.7039A>G (p.Asn2347Asp)
c.6973A>G (p.Asn2325Asp)
c.7036A>G (p.Asn2346Asp)
c.7033A>G (p.Asn2345Asp)
c.6979A>G (p.Asn2327Asp)
c.6949A>G (p.Asn2317Asp)
c.6904A>G (p.Asn2302Asp)
c.6499A>G (p.Asn2167Asp)
c.5857A>G (p.Asn1953Asp)
c.3367A>G (p.Asn1123Asp)
10g.71798368A>TCA377157662CDH23c.6844A>T (p.Asn2282Tyr)
c.777A>T (n.777A>T)
c.441A>T (n.441A>T)
c.6859A>T (p.Asn2287Tyr)
c.124A>T (p.Asn42Tyr)
n.380A>T
c.7039A>T (p.Asn2347Tyr)
c.6973A>T (p.Asn2325Tyr)
c.7036A>T (p.Asn2346Tyr)
c.7033A>T (p.Asn2345Tyr)
c.6979A>T (p.Asn2327Tyr)
c.6949A>T (p.Asn2317Tyr)
c.6904A>T (p.Asn2302Tyr)
c.6499A>T (p.Asn2167Tyr)
c.5857A>T (p.Asn1953Tyr)
c.3367A>T (p.Asn1123Tyr)
10g.71798369delCA2695212175CDH23c.6845del (p.Asn2282ThrfsTer?)
c.778del (n.778del)
c.442del (n.442del)
c.6860del (p.Asn2287ThrfsTer?)
c.125del (p.Asn42ThrfsTer?)
n.381del
c.7040del (p.Asn2347ThrfsTer?)
c.6974del (p.Asn2325ThrfsTer?)
c.7037del (p.Asn2346ThrfsTer?)
c.7034del (p.Asn2345ThrfsTer?)
c.6980del (p.Asn2327ThrfsTer?)
c.6950del (p.Asn2317ThrfsTer?)
c.6905del (p.Asn2302ThrfsTer?)
c.6500del (p.Asn2167ThrfsTer?)
c.5858del (p.Asn1953ThrfsTer?)
c.3368del (p.Asn1123ThrfsTer?)
10g.71798369A=CA1918878407CDH23c.6845A= (p.Asn2282=)
c.778A= (n.778A=)
c.442A= (n.442A=)
c.6860A= (p.Asn2287=)
c.125A= (p.Asn42=)
n.381A=
c.7040A= (p.Asn2347=)
c.6974A= (p.Asn2325=)
c.7037A= (p.Asn2346=)
c.7034A= (p.Asn2345=)
c.6980A= (p.Asn2327=)
c.6950A= (p.Asn2317=)
c.6905A= (p.Asn2302=)
c.6500A= (p.Asn2167=)
c.5858A= (p.Asn1953=)
c.3368A= (p.Asn1123=)
10g.71798369A>CCA377157663CDH23c.6845A>C (p.Asn2282Thr)
c.778A>C (n.778A>C)
c.442A>C (n.442A>C)
c.6860A>C (p.Asn2287Thr)
c.125A>C (p.Asn42Thr)
n.381A>C
c.7040A>C (p.Asn2347Thr)
c.6974A>C (p.Asn2325Thr)
c.7037A>C (p.Asn2346Thr)
c.7034A>C (p.Asn2345Thr)
c.6980A>C (p.Asn2327Thr)
c.6950A>C (p.Asn2317Thr)
c.6905A>C (p.Asn2302Thr)
c.6500A>C (p.Asn2167Thr)
c.5858A>C (p.Asn1953Thr)
c.3368A>C (p.Asn1123Thr)
10g.71798369A>GCA5546207CDH23c.6845A>G (p.Asn2282Ser)
c.778A>G (n.778A>G)
c.442A>G (n.442A>G)
c.6860A>G (p.Asn2287Ser)
c.125A>G (p.Asn42Ser)
n.381A>G
c.7040A>G (p.Asn2347Ser)
c.6974A>G (p.Asn2325Ser)
c.7037A>G (p.Asn2346Ser)
c.7034A>G (p.Asn2345Ser)
c.6980A>G (p.Asn2327Ser)
c.6950A>G (p.Asn2317Ser)
c.6905A>G (p.Asn2302Ser)
c.6500A>G (p.Asn2167Ser)
c.5858A>G (p.Asn1953Ser)
c.3368A>G (p.Asn1123Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798369A>TCA209469509CDH23c.6845A>T (p.Asn2282Ile)
c.778A>T (n.778A>T)
c.442A>T (n.442A>T)
c.6860A>T (p.Asn2287Ile)
c.125A>T (p.Asn42Ile)
n.381A>T
c.7040A>T (p.Asn2347Ile)
c.6974A>T (p.Asn2325Ile)
c.7037A>T (p.Asn2346Ile)
c.7034A>T (p.Asn2345Ile)
c.6980A>T (p.Asn2327Ile)
c.6950A>T (p.Asn2317Ile)
c.6905A>T (p.Asn2302Ile)
c.6500A>T (p.Asn2167Ile)
c.5858A>T (p.Asn1953Ile)
c.3368A>T (p.Asn1123Ile)
 dbSNP
10g.71798370C>ACA377157666CDH23c.6846C>A (p.Asn2282Lys)
c.779C>A (n.779C>A)
c.443C>A (n.443C>A)
c.6861C>A (p.Asn2287Lys)
c.126C>A (p.Asn42Lys)
n.382C>A
c.7041C>A (p.Asn2347Lys)
c.6975C>A (p.Asn2325Lys)
c.7038C>A (p.Asn2346Lys)
c.7035C>A (p.Asn2345Lys)
c.6981C>A (p.Asn2327Lys)
c.6951C>A (p.Asn2317Lys)
c.6906C>A (p.Asn2302Lys)
c.6501C>A (p.Asn2167Lys)
c.5859C>A (p.Asn1953Lys)
c.3369C>A (p.Asn1123Lys)
 gnomAD v4
10g.71798370C=CA1918878408CDH23c.6846C= (p.Asn2282=)
c.779C= (n.779C=)
c.443C= (n.443C=)
c.6861C= (p.Asn2287=)
c.126C= (p.Asn42=)
n.382C=
c.7041C= (p.Asn2347=)
c.6975C= (p.Asn2325=)
c.7038C= (p.Asn2346=)
c.7035C= (p.Asn2345=)
c.6981C= (p.Asn2327=)
c.6951C= (p.Asn2317=)
c.6906C= (p.Asn2302=)
c.6501C= (p.Asn2167=)
c.5859C= (p.Asn1953=)
c.3369C= (p.Asn1123=)
10g.71798370C>GCA377157668CDH23c.6846C>G (p.Asn2282Lys)
c.779C>G (n.779C>G)
c.443C>G (n.443C>G)
c.6861C>G (p.Asn2287Lys)
c.126C>G (p.Asn42Lys)
n.382C>G
c.7041C>G (p.Asn2347Lys)
c.6975C>G (p.Asn2325Lys)
c.7038C>G (p.Asn2346Lys)
c.7035C>G (p.Asn2345Lys)
c.6981C>G (p.Asn2327Lys)
c.6951C>G (p.Asn2317Lys)
c.6906C>G (p.Asn2302Lys)
c.6501C>G (p.Asn2167Lys)
c.5859C>G (p.Asn1953Lys)
c.3369C>G (p.Asn1123Lys)
10g.71798370C>TCA175509CDH23c.6846C>T (p.Asn2282=)
c.779C>T (n.779C>T)
c.443C>T (n.443C>T)
c.6861C>T (p.Asn2287=)
c.126C>T (p.Asn42=)
n.382C>T
c.7041C>T (p.Asn2347=)
c.6975C>T (p.Asn2325=)
c.7038C>T (p.Asn2346=)
c.7035C>T (p.Asn2345=)
c.6981C>T (p.Asn2327=)
c.6951C>T (p.Asn2317=)
c.6906C>T (p.Asn2302=)
c.6501C>T (p.Asn2167=)
c.5859C>T (p.Asn1953=)
c.3369C>T (p.Asn1123=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71798371G>ACA137550CDH23c.6847G>A (p.Val2283Ile)
c.780G>A (n.780G>A)
c.444G>A (n.444G>A)
c.6862G>A (p.Val2288Ile)
c.127G>A (p.Val43Ile)
n.383G>A
c.7042G>A (p.Val2348Ile)
c.6976G>A (p.Val2326Ile)
c.7039G>A (p.Val2347Ile)
c.7036G>A (p.Val2346Ile)
c.6982G>A (p.Val2328Ile)
c.6952G>A (p.Val2318Ile)
c.6907G>A (p.Val2303Ile)
c.6502G>A (p.Val2168Ile)
c.5860G>A (p.Val1954Ile)
c.3370G>A (p.Val1124Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798371G>CCA377157670CDH23c.6847G>C (p.Val2283Leu)
c.780G>C (n.780G>C)
c.444G>C (n.444G>C)
c.6862G>C (p.Val2288Leu)
c.127G>C (p.Val43Leu)
n.383G>C
c.7042G>C (p.Val2348Leu)
c.6976G>C (p.Val2326Leu)
c.7039G>C (p.Val2347Leu)
c.7036G>C (p.Val2346Leu)
c.6982G>C (p.Val2328Leu)
c.6952G>C (p.Val2318Leu)
c.6907G>C (p.Val2303Leu)
c.6502G>C (p.Val2168Leu)
c.5860G>C (p.Val1954Leu)
c.3370G>C (p.Val1124Leu)
 ClinVar
10g.71798371G=CA1918878409CDH23c.6847G= (p.Val2283=)
c.780G= (n.780G=)
c.444G= (n.444G=)
c.6862G= (p.Val2288=)
c.127G= (p.Val43=)
n.383G=
c.7042G= (p.Val2348=)
c.6976G= (p.Val2326=)
c.7039G= (p.Val2347=)
c.7036G= (p.Val2346=)
c.6982G= (p.Val2328=)
c.6952G= (p.Val2318=)
c.6907G= (p.Val2303=)
c.6502G= (p.Val2168=)
c.5860G= (p.Val1954=)
c.3370G= (p.Val1124=)
10g.71798371G>TCA377157672CDH23c.6847G>T (p.Val2283Phe)
c.780G>T (n.780G>T)
c.444G>T (n.444G>T)
c.6862G>T (p.Val2288Phe)
c.127G>T (p.Val43Phe)
n.383G>T
c.7042G>T (p.Val2348Phe)
c.6976G>T (p.Val2326Phe)
c.7039G>T (p.Val2347Phe)
c.7036G>T (p.Val2346Phe)
c.6982G>T (p.Val2328Phe)
c.6952G>T (p.Val2318Phe)
c.6907G>T (p.Val2303Phe)
c.6502G>T (p.Val2168Phe)
c.5860G>T (p.Val1954Phe)
c.3370G>T (p.Val1124Phe)
 dbSNP gnomAD v4
10g.71798372T>ACA377157677CDH23c.6848T>A (p.Val2283Asp)
c.781T>A (n.781T>A)
c.445T>A (n.445T>A)
c.6863T>A (p.Val2288Asp)
c.128T>A (p.Val43Asp)
n.384T>A
c.7043T>A (p.Val2348Asp)
c.6977T>A (p.Val2326Asp)
c.7040T>A (p.Val2347Asp)
c.7037T>A (p.Val2346Asp)
c.6983T>A (p.Val2328Asp)
c.6953T>A (p.Val2318Asp)
c.6908T>A (p.Val2303Asp)
c.6503T>A (p.Val2168Asp)
c.5861T>A (p.Val1954Asp)
c.3371T>A (p.Val1124Asp)
10g.71798372T>CCA377157675CDH23c.6848T>C (p.Val2283Ala)
c.781T>C (n.781T>C)
c.445T>C (n.445T>C)
c.6863T>C (p.Val2288Ala)
c.128T>C (p.Val43Ala)
n.384T>C
c.7043T>C (p.Val2348Ala)
c.6977T>C (p.Val2326Ala)
c.7040T>C (p.Val2347Ala)
c.7037T>C (p.Val2346Ala)
c.6983T>C (p.Val2328Ala)
c.6953T>C (p.Val2318Ala)
c.6908T>C (p.Val2303Ala)
c.6503T>C (p.Val2168Ala)
c.5861T>C (p.Val1954Ala)
c.3371T>C (p.Val1124Ala)
 gnomAD v4
10g.71798372T>GCA377157674CDH23c.6848T>G (p.Val2283Gly)
c.781T>G (n.781T>G)
c.445T>G (n.445T>G)
c.6863T>G (p.Val2288Gly)
c.128T>G (p.Val43Gly)
n.384T>G
c.7043T>G (p.Val2348Gly)
c.6977T>G (p.Val2326Gly)
c.7040T>G (p.Val2347Gly)
c.7037T>G (p.Val2346Gly)
c.6983T>G (p.Val2328Gly)
c.6953T>G (p.Val2318Gly)
c.6908T>G (p.Val2303Gly)
c.6503T>G (p.Val2168Gly)
c.5861T>G (p.Val1954Gly)
c.3371T>G (p.Val1124Gly)
10g.71798373C>ACA470061944CDH23c.6849C>A (p.Val2283=)
c.782C>A (n.782C>A)
c.446C>A (n.446C>A)
c.6864C>A (p.Val2288=)
c.129C>A (p.Val43=)
n.385C>A
c.7044C>A (p.Val2348=)
c.6978C>A (p.Val2326=)
c.7041C>A (p.Val2347=)
c.7038C>A (p.Val2346=)
c.6984C>A (p.Val2328=)
c.6954C>A (p.Val2318=)
c.6909C>A (p.Val2303=)
c.6504C>A (p.Val2168=)
c.5862C>A (p.Val1954=)
c.3372C>A (p.Val1124=)
10g.71798373C=CA1918878410CDH23c.6849C= (p.Val2283=)
c.782C= (n.782C=)
c.446C= (n.446C=)
c.6864C= (p.Val2288=)
c.129C= (p.Val43=)
n.385C=
c.7044C= (p.Val2348=)
c.6978C= (p.Val2326=)
c.7041C= (p.Val2347=)
c.7038C= (p.Val2346=)
c.6984C= (p.Val2328=)
c.6954C= (p.Val2318=)
c.6909C= (p.Val2303=)
c.6504C= (p.Val2168=)
c.5862C= (p.Val1954=)
c.3372C= (p.Val1124=)
10g.71798373C>GCA470061945CDH23c.6849C>G (p.Val2283=)
c.782C>G (n.782C>G)
c.446C>G (n.446C>G)
c.6864C>G (p.Val2288=)
c.129C>G (p.Val43=)
n.385C>G
c.7044C>G (p.Val2348=)
c.6978C>G (p.Val2326=)
c.7041C>G (p.Val2347=)
c.7038C>G (p.Val2346=)
c.6984C>G (p.Val2328=)
c.6954C>G (p.Val2318=)
c.6909C>G (p.Val2303=)
c.6504C>G (p.Val2168=)
c.5862C>G (p.Val1954=)
c.3372C>G (p.Val1124=)
10g.71798373C>TCA470061947CDH23c.6849C>T (p.Val2283=)
c.782C>T (n.782C>T)
c.446C>T (n.446C>T)
c.6864C>T (p.Val2288=)
c.129C>T (p.Val43=)
n.385C>T
c.7044C>T (p.Val2348=)
c.6978C>T (p.Val2326=)
c.7041C>T (p.Val2347=)
c.7038C>T (p.Val2346=)
c.6984C>T (p.Val2328=)
c.6954C>T (p.Val2318=)
c.6909C>T (p.Val2303=)
c.6504C>T (p.Val2168=)
c.5862C>T (p.Val1954=)
c.3372C>T (p.Val1124=)
 dbSNP gnomAD v2 gnomAD v4
10g.71798374C>ACA377157678CDH23c.6850C>A (p.Leu2284Met)
c.783C>A (n.783C>A)
c.447C>A (n.447C>A)
c.6865C>A (p.Leu2289Met)
c.130C>A (p.Leu44Met)
n.386C>A
c.7045C>A (p.Leu2349Met)
c.6979C>A (p.Leu2327Met)
c.7042C>A (p.Leu2348Met)
c.7039C>A (p.Leu2347Met)
c.6985C>A (p.Leu2329Met)
c.6955C>A (p.Leu2319Met)
c.6910C>A (p.Leu2304Met)
c.6505C>A (p.Leu2169Met)
c.5863C>A (p.Leu1955Met)
c.3373C>A (p.Leu1125Met)
 gnomAD v4
10g.71798374C>GCA377157679CDH23c.6850C>G (p.Leu2284Val)
c.783C>G (n.783C>G)
c.447C>G (n.447C>G)
c.6865C>G (p.Leu2289Val)
c.130C>G (p.Leu44Val)
n.386C>G
c.7045C>G (p.Leu2349Val)
c.6979C>G (p.Leu2327Val)
c.7042C>G (p.Leu2348Val)
c.7039C>G (p.Leu2347Val)
c.6985C>G (p.Leu2329Val)
c.6955C>G (p.Leu2319Val)
c.6910C>G (p.Leu2304Val)
c.6505C>G (p.Leu2169Val)
c.5863C>G (p.Leu1955Val)
c.3373C>G (p.Leu1125Val)
10g.71798374C>TCA470061949CDH23c.6850C>T (p.Leu2284=)
c.783C>T (n.783C>T)
c.447C>T (n.447C>T)
c.6865C>T (p.Leu2289=)
c.130C>T (p.Leu44=)
n.386C>T
c.7045C>T (p.Leu2349=)
c.6979C>T (p.Leu2327=)
c.7042C>T (p.Leu2348=)
c.7039C>T (p.Leu2347=)
c.6985C>T (p.Leu2329=)
c.6955C>T (p.Leu2319=)
c.6910C>T (p.Leu2304=)
c.6505C>T (p.Leu2169=)
c.5863C>T (p.Leu1955=)
c.3373C>T (p.Leu1125=)
10g.71798375T>ACA377157681CDH23c.6851T>A (p.Leu2284Gln)
c.784T>A (n.784T>A)
c.448T>A (n.448T>A)
c.6866T>A (p.Leu2289Gln)
c.131T>A (p.Leu44Gln)
n.387T>A
c.7046T>A (p.Leu2349Gln)
c.6980T>A (p.Leu2327Gln)
c.7043T>A (p.Leu2348Gln)
c.7040T>A (p.Leu2347Gln)
c.6986T>A (p.Leu2329Gln)
c.6956T>A (p.Leu2319Gln)
c.6911T>A (p.Leu2304Gln)
c.6506T>A (p.Leu2169Gln)
c.5864T>A (p.Leu1955Gln)
c.3374T>A (p.Leu1125Gln)
10g.71798375T>CCA377157682CDH23c.6851T>C (p.Leu2284Pro)
c.784T>C (n.784T>C)
c.448T>C (n.448T>C)
c.6866T>C (p.Leu2289Pro)
c.131T>C (p.Leu44Pro)
n.387T>C
c.7046T>C (p.Leu2349Pro)
c.6980T>C (p.Leu2327Pro)
c.7043T>C (p.Leu2348Pro)
c.7040T>C (p.Leu2347Pro)
c.6986T>C (p.Leu2329Pro)
c.6956T>C (p.Leu2319Pro)
c.6911T>C (p.Leu2304Pro)
c.6506T>C (p.Leu2169Pro)
c.5864T>C (p.Leu1955Pro)
c.3374T>C (p.Leu1125Pro)
10g.71798375T>GCA377157684CDH23c.6851T>G (p.Leu2284Arg)
c.784T>G (n.784T>G)
c.448T>G (n.448T>G)
c.6866T>G (p.Leu2289Arg)
c.131T>G (p.Leu44Arg)
n.387T>G
c.7046T>G (p.Leu2349Arg)
c.6980T>G (p.Leu2327Arg)
c.7043T>G (p.Leu2348Arg)
c.7040T>G (p.Leu2347Arg)
c.6986T>G (p.Leu2329Arg)
c.6956T>G (p.Leu2319Arg)
c.6911T>G (p.Leu2304Arg)
c.6506T>G (p.Leu2169Arg)
c.5864T>G (p.Leu1955Arg)
c.3374T>G (p.Leu1125Arg)
10g.71798376G>ACA5546208CDH23c.6852G>A (p.Leu2284=)
c.785G>A (n.785G>A)
c.449G>A (n.449G>A)
c.6867G>A (p.Leu2289=)
c.132G>A (p.Leu44=)
n.388G>A
c.7047G>A (p.Leu2349=)
c.6981G>A (p.Leu2327=)
c.7044G>A (p.Leu2348=)
c.7041G>A (p.Leu2347=)
c.6987G>A (p.Leu2329=)
c.6957G>A (p.Leu2319=)
c.6912G>A (p.Leu2304=)
c.6507G>A (p.Leu2169=)
c.5865G>A (p.Leu1955=)
c.3375G>A (p.Leu1125=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.71798376G>CCA137552CDH23c.6852G>C (p.Leu2284=)
c.785G>C (n.785G>C)
c.449G>C (n.449G>C)
c.6867G>C (p.Leu2289=)
c.132G>C (p.Leu44=)
n.388G>C
c.7047G>C (p.Leu2349=)
c.6981G>C (p.Leu2327=)
c.7044G>C (p.Leu2348=)
c.7041G>C (p.Leu2347=)
c.6987G>C (p.Leu2329=)
c.6957G>C (p.Leu2319=)
c.6912G>C (p.Leu2304=)
c.6507G>C (p.Leu2169=)
c.5865G>C (p.Leu1955=)
c.3375G>C (p.Leu1125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798376G=CA1918878411CDH23c.6852G= (p.Leu2284=)
c.785G= (n.785G=)
c.449G= (n.449G=)
c.6867G= (p.Leu2289=)
c.132G= (p.Leu44=)
n.388G=
c.7047G= (p.Leu2349=)
c.6981G= (p.Leu2327=)
c.7044G= (p.Leu2348=)
c.7041G= (p.Leu2347=)
c.6987G= (p.Leu2329=)
c.6957G= (p.Leu2319=)
c.6912G= (p.Leu2304=)
c.6507G= (p.Leu2169=)
c.5865G= (p.Leu1955=)
c.3375G= (p.Leu1125=)
10g.71798376G>TCA470061950CDH23c.6852G>T (p.Leu2284=)
c.785G>T (n.785G>T)
c.449G>T (n.449G>T)
c.6867G>T (p.Leu2289=)
c.132G>T (p.Leu44=)
n.388G>T
c.7047G>T (p.Leu2349=)
c.6981G>T (p.Leu2327=)
c.7044G>T (p.Leu2348=)
c.7041G>T (p.Leu2347=)
c.6987G>T (p.Leu2329=)
c.6957G>T (p.Leu2319=)
c.6912G>T (p.Leu2304=)
c.6507G>T (p.Leu2169=)
c.5865G>T (p.Leu1955=)
c.3375G>T (p.Leu1125=)
10g.71798377G>ACA377157687CDH23c.6853G>A (p.Asp2285Asn)
c.786G>A (n.786G>A)
c.450G>A (n.450G>A)
c.6868G>A (p.Asp2290Asn)
c.133G>A (p.Asp45Asn)
n.389G>A
c.7048G>A (p.Asp2350Asn)
c.6982G>A (p.Asp2328Asn)
c.7045G>A (p.Asp2349Asn)
c.7042G>A (p.Asp2348Asn)
c.6988G>A (p.Asp2330Asn)
c.6958G>A (p.Asp2320Asn)
c.6913G>A (p.Asp2305Asn)
c.6508G>A (p.Asp2170Asn)
c.5866G>A (p.Asp1956Asn)
c.3376G>A (p.Asp1126Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.71798377G>CCA377157688CDH23c.6853G>C (p.Asp2285His)
c.786G>C (n.786G>C)
c.450G>C (n.450G>C)
c.6868G>C (p.Asp2290His)
c.133G>C (p.Asp45His)
n.389G>C
c.7048G>C (p.Asp2350His)
c.6982G>C (p.Asp2328His)
c.7045G>C (p.Asp2349His)
c.7042G>C (p.Asp2348His)
c.6988G>C (p.Asp2330His)
c.6958G>C (p.Asp2320His)
c.6913G>C (p.Asp2305His)
c.6508G>C (p.Asp2170His)
c.5866G>C (p.Asp1956His)
c.3376G>C (p.Asp1126His)
 dbSNP
10g.71798377G=CA1918878412CDH23c.6853G= (p.Asp2285=)
c.786G= (n.786G=)
c.450G= (n.450G=)
c.6868G= (p.Asp2290=)
c.133G= (p.Asp45=)
n.389G=
c.7048G= (p.Asp2350=)
c.6982G= (p.Asp2328=)
c.7045G= (p.Asp2349=)
c.7042G= (p.Asp2348=)
c.6988G= (p.Asp2330=)
c.6958G= (p.Asp2320=)
c.6913G= (p.Asp2305=)
c.6508G= (p.Asp2170=)
c.5866G= (p.Asp1956=)
c.3376G= (p.Asp1126=)
10g.71798377G>TCA377157690CDH23c.6853G>T (p.Asp2285Tyr)
c.786G>T (n.786G>T)
c.450G>T (n.450G>T)
c.6868G>T (p.Asp2290Tyr)
c.133G>T (p.Asp45Tyr)
n.389G>T
c.7048G>T (p.Asp2350Tyr)
c.6982G>T (p.Asp2328Tyr)
c.7045G>T (p.Asp2349Tyr)
c.7042G>T (p.Asp2348Tyr)
c.6988G>T (p.Asp2330Tyr)
c.6958G>T (p.Asp2320Tyr)
c.6913G>T (p.Asp2305Tyr)
c.6508G>T (p.Asp2170Tyr)
c.5866G>T (p.Asp1956Tyr)
c.3376G>T (p.Asp1126Tyr)
10g.71798378A>CCA377157692CDH23c.6854A>C (p.Asp2285Ala)
c.787A>C (n.787A>C)
c.451A>C (n.451A>C)
c.6869A>C (p.Asp2290Ala)
c.134A>C (p.Asp45Ala)
n.390A>C
c.7049A>C (p.Asp2350Ala)
c.6983A>C (p.Asp2328Ala)
c.7046A>C (p.Asp2349Ala)
c.7043A>C (p.Asp2348Ala)
c.6989A>C (p.Asp2330Ala)
c.6959A>C (p.Asp2320Ala)
c.6914A>C (p.Asp2305Ala)
c.6509A>C (p.Asp2170Ala)
c.5867A>C (p.Asp1956Ala)
c.3377A>C (p.Asp1126Ala)
10g.71798378A>GCA377157693CDH23c.6854A>G (p.Asp2285Gly)
c.787A>G (n.787A>G)
c.451A>G (n.451A>G)
c.6869A>G (p.Asp2290Gly)
c.134A>G (p.Asp45Gly)
n.390A>G
c.7049A>G (p.Asp2350Gly)
c.6983A>G (p.Asp2328Gly)
c.7046A>G (p.Asp2349Gly)
c.7043A>G (p.Asp2348Gly)
c.6989A>G (p.Asp2330Gly)
c.6959A>G (p.Asp2320Gly)
c.6914A>G (p.Asp2305Gly)
c.6509A>G (p.Asp2170Gly)
c.5867A>G (p.Asp1956Gly)
c.3377A>G (p.Asp1126Gly)
10g.71798378A>TCA377157694CDH23c.6854A>T (p.Asp2285Val)
c.787A>T (n.787A>T)
c.451A>T (n.451A>T)
c.6869A>T (p.Asp2290Val)
c.134A>T (p.Asp45Val)
n.390A>T
c.7049A>T (p.Asp2350Val)
c.6983A>T (p.Asp2328Val)
c.7046A>T (p.Asp2349Val)
c.7043A>T (p.Asp2348Val)
c.6989A>T (p.Asp2330Val)
c.6959A>T (p.Asp2320Val)
c.6914A>T (p.Asp2305Val)
c.6509A>T (p.Asp2170Val)
c.5867A>T (p.Asp1956Val)
c.3377A>T (p.Asp1126Val)
 gnomAD v4
10g.71798379C>ACA377157697CDH23c.6855C>A (p.Asp2285Glu)
c.788C>A (n.788C>A)
c.452C>A (n.452C>A)
c.6870C>A (p.Asp2290Glu)
c.135C>A (p.Asp45Glu)
n.391C>A
c.7050C>A (p.Asp2350Glu)
c.6984C>A (p.Asp2328Glu)
c.7047C>A (p.Asp2349Glu)
c.7044C>A (p.Asp2348Glu)
c.6990C>A (p.Asp2330Glu)
c.6960C>A (p.Asp2320Glu)
c.6915C>A (p.Asp2305Glu)
c.6510C>A (p.Asp2170Glu)
c.5868C>A (p.Asp1956Glu)
c.3378C>A (p.Asp1126Glu)
 gnomAD v4
10g.71798379C=CA1918878413CDH23c.6855C= (p.Asp2285=)
c.788C= (n.788C=)
c.452C= (n.452C=)
c.6870C= (p.Asp2290=)
c.135C= (p.Asp45=)
n.391C=
c.7050C= (p.Asp2350=)
c.6984C= (p.Asp2328=)
c.7047C= (p.Asp2349=)
c.7044C= (p.Asp2348=)
c.6990C= (p.Asp2330=)
c.6960C= (p.Asp2320=)
c.6915C= (p.Asp2305=)
c.6510C= (p.Asp2170=)
c.5868C= (p.Asp1956=)
c.3378C= (p.Asp1126=)
10g.71798379C>GCA377157698CDH23c.6855C>G (p.Asp2285Glu)
c.788C>G (n.788C>G)
c.452C>G (n.452C>G)
c.6870C>G (p.Asp2290Glu)
c.135C>G (p.Asp45Glu)
n.391C>G
c.7050C>G (p.Asp2350Glu)
c.6984C>G (p.Asp2328Glu)
c.7047C>G (p.Asp2349Glu)
c.7044C>G (p.Asp2348Glu)
c.6990C>G (p.Asp2330Glu)
c.6960C>G (p.Asp2320Glu)
c.6915C>G (p.Asp2305Glu)
c.6510C>G (p.Asp2170Glu)
c.5868C>G (p.Asp1956Glu)
c.3378C>G (p.Asp1126Glu)
 dbSNP
10g.71798379C>TCA5546209CDH23c.6855C>T (p.Asp2285=)
c.788C>T (n.788C>T)
c.452C>T (n.452C>T)
c.6870C>T (p.Asp2290=)
c.135C>T (p.Asp45=)
n.391C>T
c.7050C>T (p.Asp2350=)
c.6984C>T (p.Asp2328=)
c.7047C>T (p.Asp2349=)
c.7044C>T (p.Asp2348=)
c.6990C>T (p.Asp2330=)
c.6960C>T (p.Asp2320=)
c.6915C>T (p.Asp2305=)
c.6510C>T (p.Asp2170=)
c.5868C>T (p.Asp1956=)
c.3378C>T (p.Asp1126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798380G>ACA5546210CDH23c.6856G>A (p.Val2286Ile)
c.789G>A (n.789G>A)
c.453G>A (n.453G>A)
c.6871G>A (p.Val2291Ile)
c.136G>A (p.Val46Ile)
n.392G>A
c.7051G>A (p.Val2351Ile)
c.6985G>A (p.Val2329Ile)
c.7048G>A (p.Val2350Ile)
c.7045G>A (p.Val2349Ile)
c.6991G>A (p.Val2331Ile)
c.6961G>A (p.Val2321Ile)
c.6916G>A (p.Val2306Ile)
c.6511G>A (p.Val2171Ile)
c.5869G>A (p.Val1957Ile)
c.3379G>A (p.Val1127Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798380G>CCA377157700CDH23c.6856G>C (p.Val2286Leu)
c.789G>C (n.789G>C)
c.453G>C (n.453G>C)
c.6871G>C (p.Val2291Leu)
c.136G>C (p.Val46Leu)
n.392G>C
c.7051G>C (p.Val2351Leu)
c.6985G>C (p.Val2329Leu)
c.7048G>C (p.Val2350Leu)
c.7045G>C (p.Val2349Leu)
c.6991G>C (p.Val2331Leu)
c.6961G>C (p.Val2321Leu)
c.6916G>C (p.Val2306Leu)
c.6511G>C (p.Val2171Leu)
c.5869G>C (p.Val1957Leu)
c.3379G>C (p.Val1127Leu)
10g.71798380G=CA1918878414CDH23c.6856G= (p.Val2286=)
c.789G= (n.789G=)
c.453G= (n.453G=)
c.6871G= (p.Val2291=)
c.136G= (p.Val46=)
n.392G=
c.7051G= (p.Val2351=)
c.6985G= (p.Val2329=)
c.7048G= (p.Val2350=)
c.7045G= (p.Val2349=)
c.6991G= (p.Val2331=)
c.6961G= (p.Val2321=)
c.6916G= (p.Val2306=)
c.6511G= (p.Val2171=)
c.5869G= (p.Val1957=)
c.3379G= (p.Val1127=)
10g.71798380G>TCA5546211CDH23c.6856G>T (p.Val2286Phe)
c.789G>T (n.789G>T)
c.453G>T (n.453G>T)
c.6871G>T (p.Val2291Phe)
c.136G>T (p.Val46Phe)
n.392G>T
c.7051G>T (p.Val2351Phe)
c.6985G>T (p.Val2329Phe)
c.7048G>T (p.Val2350Phe)
c.7045G>T (p.Val2349Phe)
c.6991G>T (p.Val2331Phe)
c.6961G>T (p.Val2321Phe)
c.6916G>T (p.Val2306Phe)
c.6511G>T (p.Val2171Phe)
c.5869G>T (p.Val1957Phe)
c.3379G>T (p.Val1127Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798381T>ACA377157702CDH23c.6857T>A (p.Val2286Asp)
c.790T>A (n.790T>A)
c.454T>A (n.454T>A)
c.6872T>A (p.Val2291Asp)
c.137T>A (p.Val46Asp)
n.393T>A
c.7052T>A (p.Val2351Asp)
c.6986T>A (p.Val2329Asp)
c.7049T>A (p.Val2350Asp)
c.7046T>A (p.Val2349Asp)
c.6992T>A (p.Val2331Asp)
c.6962T>A (p.Val2321Asp)
c.6917T>A (p.Val2306Asp)
c.6512T>A (p.Val2171Asp)
c.5870T>A (p.Val1957Asp)
c.3380T>A (p.Val1127Asp)
10g.71798381T>CCA377157704CDH23c.6857T>C (p.Val2286Ala)
c.790T>C (n.790T>C)
c.454T>C (n.454T>C)
c.6872T>C (p.Val2291Ala)
c.137T>C (p.Val46Ala)
n.393T>C
c.7052T>C (p.Val2351Ala)
c.6986T>C (p.Val2329Ala)
c.7049T>C (p.Val2350Ala)
c.7046T>C (p.Val2349Ala)
c.6992T>C (p.Val2331Ala)
c.6962T>C (p.Val2321Ala)
c.6917T>C (p.Val2306Ala)
c.6512T>C (p.Val2171Ala)
c.5870T>C (p.Val1957Ala)
c.3380T>C (p.Val1127Ala)
 dbSNP gnomAD v4
10g.71798381T>GCA377157706CDH23c.6857T>G (p.Val2286Gly)
c.790T>G (n.790T>G)
c.454T>G (n.454T>G)
c.6872T>G (p.Val2291Gly)
c.137T>G (p.Val46Gly)
n.393T>G
c.7052T>G (p.Val2351Gly)
c.6986T>G (p.Val2329Gly)
c.7049T>G (p.Val2350Gly)
c.7046T>G (p.Val2349Gly)
c.6992T>G (p.Val2331Gly)
c.6962T>G (p.Val2321Gly)
c.6917T>G (p.Val2306Gly)
c.6512T>G (p.Val2171Gly)
c.5870T>G (p.Val1957Gly)
c.3380T>G (p.Val1127Gly)
10g.71798381T=CA1918878415CDH23c.6857T= (p.Val2286=)
c.790T= (n.790T=)
c.454T= (n.454T=)
c.6872T= (p.Val2291=)
c.137T= (p.Val46=)
n.393T=
c.7052T= (p.Val2351=)
c.6986T= (p.Val2329=)
c.7049T= (p.Val2350=)
c.7046T= (p.Val2349=)
c.6992T= (p.Val2331=)
c.6962T= (p.Val2321=)
c.6917T= (p.Val2306=)
c.6512T= (p.Val2171=)
c.5870T= (p.Val1957=)
c.3380T= (p.Val1127=)
10g.71798382C>ACA470061956CDH23c.6858C>A (p.Val2286=)
c.791C>A (n.791C>A)
c.455C>A (n.455C>A)
c.6873C>A (p.Val2291=)
c.138C>A (p.Val46=)
n.394C>A
c.7053C>A (p.Val2351=)
c.6987C>A (p.Val2329=)
c.7050C>A (p.Val2350=)
c.7047C>A (p.Val2349=)
c.6993C>A (p.Val2331=)
c.6963C>A (p.Val2321=)
c.6918C>A (p.Val2306=)
c.6513C>A (p.Val2171=)
c.5871C>A (p.Val1957=)
c.3381C>A (p.Val1127=)
10g.71798382C>GCA470061957CDH23c.6858C>G (p.Val2286=)
c.791C>G (n.791C>G)
c.455C>G (n.455C>G)
c.6873C>G (p.Val2291=)
c.138C>G (p.Val46=)
n.394C>G
c.7053C>G (p.Val2351=)
c.6987C>G (p.Val2329=)
c.7050C>G (p.Val2350=)
c.7047C>G (p.Val2349=)
c.6993C>G (p.Val2331=)
c.6963C>G (p.Val2321=)
c.6918C>G (p.Val2306=)
c.6513C>G (p.Val2171=)
c.5871C>G (p.Val1957=)
c.3381C>G (p.Val1127=)
 dbSNP
10g.71798382C>TCA470061958CDH23c.6858C>T (p.Val2286=)
c.791C>T (n.791C>T)
c.455C>T (n.455C>T)
c.6873C>T (p.Val2291=)
c.138C>T (p.Val46=)
n.394C>T
c.7053C>T (p.Val2351=)
c.6987C>T (p.Val2329=)
c.7050C>T (p.Val2350=)
c.7047C>T (p.Val2349=)
c.6993C>T (p.Val2331=)
c.6963C>T (p.Val2321=)
c.6918C>T (p.Val2306=)
c.6513C>T (p.Val2171=)
c.5871C>T (p.Val1957=)
c.3381C>T (p.Val1127=)
 gnomAD v4
10g.71798383A=CA1918878416CDH23c.6859A= (p.Asn2287=)
c.792A= (n.792A=)
c.456A= (n.456A=)
c.6874A= (p.Asn2292=)
c.139A= (p.Asn47=)
n.395A=
c.7054A= (p.Asn2352=)
c.6988A= (p.Asn2330=)
c.7051A= (p.Asn2351=)
c.7048A= (p.Asn2350=)
c.6994A= (p.Asn2332=)
c.6964A= (p.Asn2322=)
c.6919A= (p.Asn2307=)
c.6514A= (p.Asn2172=)
c.5872A= (p.Asn1958=)
c.3382A= (p.Asn1128=)
10g.71798383A>CCA377157707CDH23c.6859A>C (p.Asn2287His)
c.792A>C (n.792A>C)
c.456A>C (n.456A>C)
c.6874A>C (p.Asn2292His)
c.139A>C (p.Asn47His)
n.395A>C
c.7054A>C (p.Asn2352His)
c.6988A>C (p.Asn2330His)
c.7051A>C (p.Asn2351His)
c.7048A>C (p.Asn2350His)
c.6994A>C (p.Asn2332His)
c.6964A>C (p.Asn2322His)
c.6919A>C (p.Asn2307His)
c.6514A>C (p.Asn2172His)
c.5872A>C (p.Asn1958His)
c.3382A>C (p.Asn1128His)
10g.71798383A>GCA377157708CDH23c.6859A>G (p.Asn2287Asp)
c.792A>G (n.792A>G)
c.456A>G (n.456A>G)
c.6874A>G (p.Asn2292Asp)
c.139A>G (p.Asn47Asp)
n.395A>G
c.7054A>G (p.Asn2352Asp)
c.6988A>G (p.Asn2330Asp)
c.7051A>G (p.Asn2351Asp)
c.7048A>G (p.Asn2350Asp)
c.6994A>G (p.Asn2332Asp)
c.6964A>G (p.Asn2322Asp)
c.6919A>G (p.Asn2307Asp)
c.6514A>G (p.Asn2172Asp)
c.5872A>G (p.Asn1958Asp)
c.3382A>G (p.Asn1128Asp)
 ClinVar dbSNP
10g.71798383A>TCA377157710CDH23c.6859A>T (p.Asn2287Tyr)
c.792A>T (n.792A>T)
c.456A>T (n.456A>T)
c.6874A>T (p.Asn2292Tyr)
c.139A>T (p.Asn47Tyr)
n.395A>T
c.7054A>T (p.Asn2352Tyr)
c.6988A>T (p.Asn2330Tyr)
c.7051A>T (p.Asn2351Tyr)
c.7048A>T (p.Asn2350Tyr)
c.6994A>T (p.Asn2332Tyr)
c.6964A>T (p.Asn2322Tyr)
c.6919A>T (p.Asn2307Tyr)
c.6514A>T (p.Asn2172Tyr)
c.5872A>T (p.Asn1958Tyr)
c.3382A>T (p.Asn1128Tyr)
10g.71798384A>CCA377157712CDH23c.6860A>C (p.Asn2287Thr)
c.793A>C (n.793A>C)
c.457A>C (n.457A>C)
c.6875A>C (p.Asn2292Thr)
c.140A>C (p.Asn47Thr)
n.396A>C
c.7055A>C (p.Asn2352Thr)
c.6989A>C (p.Asn2330Thr)
c.7052A>C (p.Asn2351Thr)
c.7049A>C (p.Asn2350Thr)
c.6995A>C (p.Asn2332Thr)
c.6965A>C (p.Asn2322Thr)
c.6920A>C (p.Asn2307Thr)
c.6515A>C (p.Asn2172Thr)
c.5873A>C (p.Asn1958Thr)
c.3383A>C (p.Asn1128Thr)
10g.71798384A>GCA377157714CDH23c.6860A>G (p.Asn2287Ser)
c.793A>G (n.793A>G)
c.457A>G (n.457A>G)
c.6875A>G (p.Asn2292Ser)
c.140A>G (p.Asn47Ser)
n.396A>G
c.7055A>G (p.Asn2352Ser)
c.6989A>G (p.Asn2330Ser)
c.7052A>G (p.Asn2351Ser)
c.7049A>G (p.Asn2350Ser)
c.6995A>G (p.Asn2332Ser)
c.6965A>G (p.Asn2322Ser)
c.6920A>G (p.Asn2307Ser)
c.6515A>G (p.Asn2172Ser)
c.5873A>G (p.Asn1958Ser)
c.3383A>G (p.Asn1128Ser)
 gnomAD v4
10g.71798384A>TCA377157715CDH23c.6860A>T (p.Asn2287Ile)
c.793A>T (n.793A>T)
c.457A>T (n.457A>T)
c.6875A>T (p.Asn2292Ile)
c.140A>T (p.Asn47Ile)
n.396A>T
c.7055A>T (p.Asn2352Ile)
c.6989A>T (p.Asn2330Ile)
c.7052A>T (p.Asn2351Ile)
c.7049A>T (p.Asn2350Ile)
c.6995A>T (p.Asn2332Ile)
c.6965A>T (p.Asn2322Ile)
c.6920A>T (p.Asn2307Ile)
c.6515A>T (p.Asn2172Ile)
c.5873A>T (p.Asn1958Ile)
c.3383A>T (p.Asn1128Ile)
10g.71798385T>ACA377157720CDH23c.6861T>A (p.Asn2287Lys)
c.794T>A (n.794T>A)
c.458T>A (n.458T>A)
c.6876T>A (p.Asn2292Lys)
c.141T>A (p.Asn47Lys)
n.397T>A
c.7056T>A (p.Asn2352Lys)
c.6990T>A (p.Asn2330Lys)
c.7053T>A (p.Asn2351Lys)
c.7050T>A (p.Asn2350Lys)
c.6996T>A (p.Asn2332Lys)
c.6966T>A (p.Asn2322Lys)
c.6921T>A (p.Asn2307Lys)
c.6516T>A (p.Asn2172Lys)
c.5874T>A (p.Asn1958Lys)
c.3384T>A (p.Asn1128Lys)
 gnomAD v4
10g.71798385T>CCA5546212CDH23c.6861T>C (p.Asn2287=)
c.794T>C (n.794T>C)
c.458T>C (n.458T>C)
c.6876T>C (p.Asn2292=)
c.141T>C (p.Asn47=)
n.397T>C
c.7056T>C (p.Asn2352=)
c.6990T>C (p.Asn2330=)
c.7053T>C (p.Asn2351=)
c.7050T>C (p.Asn2350=)
c.6996T>C (p.Asn2332=)
c.6966T>C (p.Asn2322=)
c.6921T>C (p.Asn2307=)
c.6516T>C (p.Asn2172=)
c.5874T>C (p.Asn1958=)
c.3384T>C (p.Asn1128=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798385T>GCA377157718CDH23c.6861T>G (p.Asn2287Lys)
c.794T>G (n.794T>G)
c.458T>G (n.458T>G)
c.6876T>G (p.Asn2292Lys)
c.141T>G (p.Asn47Lys)
n.397T>G
c.7056T>G (p.Asn2352Lys)
c.6990T>G (p.Asn2330Lys)
c.7053T>G (p.Asn2351Lys)
c.7050T>G (p.Asn2350Lys)
c.6996T>G (p.Asn2332Lys)
c.6966T>G (p.Asn2322Lys)
c.6921T>G (p.Asn2307Lys)
c.6516T>G (p.Asn2172Lys)
c.5874T>G (p.Asn1958Lys)
c.3384T>G (p.Asn1128Lys)
10g.71798385T=CA1918878417CDH23c.6861T= (p.Asn2287=)
c.794T= (n.794T=)
c.458T= (n.458T=)
c.6876T= (p.Asn2292=)
c.141T= (p.Asn47=)
n.397T=
c.7056T= (p.Asn2352=)
c.6990T= (p.Asn2330=)
c.7053T= (p.Asn2351=)
c.7050T= (p.Asn2350=)
c.6996T= (p.Asn2332=)
c.6966T= (p.Asn2322=)
c.6921T= (p.Asn2307=)
c.6516T= (p.Asn2172=)
c.5874T= (p.Asn1958=)
c.3384T= (p.Asn1128=)
10g.71798386G>ACA377157721CDH23c.6862G>A (p.Asp2288Asn)
c.795G>A (n.795G>A)
c.459G>A (n.459G>A)
c.6877G>A (p.Asp2293Asn)
c.142G>A (p.Asp48Asn)
n.398G>A
c.7057G>A (p.Asp2353Asn)
c.6991G>A (p.Asp2331Asn)
c.7054G>A (p.Asp2352Asn)
c.7051G>A (p.Asp2351Asn)
c.6997G>A (p.Asp2333Asn)
c.6967G>A (p.Asp2323Asn)
c.6922G>A (p.Asp2308Asn)
c.6517G>A (p.Asp2173Asn)
c.5875G>A (p.Asp1959Asn)
c.3385G>A (p.Asp1129Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.71798386G>CCA377157722CDH23c.6862G>C (p.Asp2288His)
c.795G>C (n.795G>C)
c.459G>C (n.459G>C)
c.6877G>C (p.Asp2293His)
c.142G>C (p.Asp48His)
n.398G>C
c.7057G>C (p.Asp2353His)
c.6991G>C (p.Asp2331His)
c.7054G>C (p.Asp2352His)
c.7051G>C (p.Asp2351His)
c.6997G>C (p.Asp2333His)
c.6967G>C (p.Asp2323His)
c.6922G>C (p.Asp2308His)
c.6517G>C (p.Asp2173His)
c.5875G>C (p.Asp1959His)
c.3385G>C (p.Asp1129His)
10g.71798386G=CA1918878418CDH23c.6862G= (p.Asp2288=)
c.795G= (n.795G=)
c.459G= (n.459G=)
c.6877G= (p.Asp2293=)
c.142G= (p.Asp48=)
n.398G=
c.7057G= (p.Asp2353=)
c.6991G= (p.Asp2331=)
c.7054G= (p.Asp2352=)
c.7051G= (p.Asp2351=)
c.6997G= (p.Asp2333=)
c.6967G= (p.Asp2323=)
c.6922G= (p.Asp2308=)
c.6517G= (p.Asp2173=)
c.5875G= (p.Asp1959=)
c.3385G= (p.Asp1129=)
10g.71798386G>TCA377157724CDH23c.6862G>T (p.Asp2288Tyr)
c.795G>T (n.795G>T)
c.459G>T (n.459G>T)
c.6877G>T (p.Asp2293Tyr)
c.142G>T (p.Asp48Tyr)
n.398G>T
c.7057G>T (p.Asp2353Tyr)
c.6991G>T (p.Asp2331Tyr)
c.7054G>T (p.Asp2352Tyr)
c.7051G>T (p.Asp2351Tyr)
c.6997G>T (p.Asp2333Tyr)
c.6967G>T (p.Asp2323Tyr)
c.6922G>T (p.Asp2308Tyr)
c.6517G>T (p.Asp2173Tyr)
c.5875G>T (p.Asp1959Tyr)
c.3385G>T (p.Asp1129Tyr)
10g.71798387A>CCA377157726CDH23c.6863A>C (p.Asp2288Ala)
c.796A>C (n.796A>C)
c.460A>C (n.460A>C)
c.6878A>C (p.Asp2293Ala)
c.143A>C (p.Asp48Ala)
n.399A>C
c.7058A>C (p.Asp2353Ala)
c.6992A>C (p.Asp2331Ala)
c.7055A>C (p.Asp2352Ala)
c.7052A>C (p.Asp2351Ala)
c.6998A>C (p.Asp2333Ala)
c.6968A>C (p.Asp2323Ala)
c.6923A>C (p.Asp2308Ala)
c.6518A>C (p.Asp2173Ala)
c.5876A>C (p.Asp1959Ala)
c.3386A>C (p.Asp1129Ala)
10g.71798387A>GCA377157728CDH23c.6863A>G (p.Asp2288Gly)
c.796A>G (n.796A>G)
c.460A>G (n.460A>G)
c.6878A>G (p.Asp2293Gly)
c.143A>G (p.Asp48Gly)
n.399A>G
c.7058A>G (p.Asp2353Gly)
c.6992A>G (p.Asp2331Gly)
c.7055A>G (p.Asp2352Gly)
c.7052A>G (p.Asp2351Gly)
c.6998A>G (p.Asp2333Gly)
c.6968A>G (p.Asp2323Gly)
c.6923A>G (p.Asp2308Gly)
c.6518A>G (p.Asp2173Gly)
c.5876A>G (p.Asp1959Gly)
c.3386A>G (p.Asp1129Gly)
10g.71798387A>TCA377157729CDH23c.6863A>T (p.Asp2288Val)
c.796A>T (n.796A>T)
c.460A>T (n.460A>T)
c.6878A>T (p.Asp2293Val)
c.143A>T (p.Asp48Val)
n.399A>T
c.7058A>T (p.Asp2353Val)
c.6992A>T (p.Asp2331Val)
c.7055A>T (p.Asp2352Val)
c.7052A>T (p.Asp2351Val)
c.6998A>T (p.Asp2333Val)
c.6968A>T (p.Asp2323Val)
c.6923A>T (p.Asp2308Val)
c.6518A>T (p.Asp2173Val)
c.5876A>T (p.Asp1959Val)
c.3386A>T (p.Asp1129Val)
 gnomAD v4
10g.71798388C>ACA377157730CDH23c.6864C>A (p.Asp2288Glu)
c.797C>A (n.797C>A)
c.461C>A (n.461C>A)
c.6879C>A (p.Asp2293Glu)
c.144C>A (p.Asp48Glu)
n.400C>A
c.7059C>A (p.Asp2353Glu)
c.6993C>A (p.Asp2331Glu)
c.7056C>A (p.Asp2352Glu)
c.7053C>A (p.Asp2351Glu)
c.6999C>A (p.Asp2333Glu)
c.6969C>A (p.Asp2323Glu)
c.6924C>A (p.Asp2308Glu)
c.6519C>A (p.Asp2173Glu)
c.5877C>A (p.Asp1959Glu)
c.3387C>A (p.Asp1129Glu)
10g.71798388C=CA1918878419CDH23c.6864C= (p.Asp2288=)
c.797C= (n.797C=)
c.461C= (n.461C=)
c.6879C= (p.Asp2293=)
c.144C= (p.Asp48=)
n.400C=
c.7059C= (p.Asp2353=)
c.6993C= (p.Asp2331=)
c.7056C= (p.Asp2352=)
c.7053C= (p.Asp2351=)
c.6999C= (p.Asp2333=)
c.6969C= (p.Asp2323=)
c.6924C= (p.Asp2308=)
c.6519C= (p.Asp2173=)
c.5877C= (p.Asp1959=)
c.3387C= (p.Asp1129=)
10g.71798388C>GCA377157732CDH23c.6864C>G (p.Asp2288Glu)
c.797C>G (n.797C>G)
c.461C>G (n.461C>G)
c.6879C>G (p.Asp2293Glu)
c.144C>G (p.Asp48Glu)
n.400C>G
c.7059C>G (p.Asp2353Glu)
c.6993C>G (p.Asp2331Glu)
c.7056C>G (p.Asp2352Glu)
c.7053C>G (p.Asp2351Glu)
c.6999C>G (p.Asp2333Glu)
c.6969C>G (p.Asp2323Glu)
c.6924C>G (p.Asp2308Glu)
c.6519C>G (p.Asp2173Glu)
c.5877C>G (p.Asp1959Glu)
c.3387C>G (p.Asp1129Glu)
10g.71798388C>TCA470061966CDH23c.6864C>T (p.Asp2288=)
c.797C>T (n.797C>T)
c.461C>T (n.461C>T)
c.6879C>T (p.Asp2293=)
c.144C>T (p.Asp48=)
n.400C>T
c.7059C>T (p.Asp2353=)
c.6993C>T (p.Asp2331=)
c.7056C>T (p.Asp2352=)
c.7053C>T (p.Asp2351=)
c.6999C>T (p.Asp2333=)
c.6969C>T (p.Asp2323=)
c.6924C>T (p.Asp2308=)
c.6519C>T (p.Asp2173=)
c.5877C>T (p.Asp1959=)
c.3387C>T (p.Asp1129=)
 dbSNP gnomAD v4
10g.71798389A>CCA377157734CDH23c.6865A>C (p.Asn2289His)
c.798A>C (n.798A>C)
c.462A>C (n.462A>C)
c.6880A>C (p.Asn2294His)
c.145A>C (p.Asn49His)
n.401A>C
c.7060A>C (p.Asn2354His)
c.6994A>C (p.Asn2332His)
c.7057A>C (p.Asn2353His)
c.7054A>C (p.Asn2352His)
c.7000A>C (p.Asn2334His)
c.6970A>C (p.Asn2324His)
c.6925A>C (p.Asn2309His)
c.6520A>C (p.Asn2174His)
c.5878A>C (p.Asn1960His)
c.3388A>C (p.Asn1130His)
10g.71798389A>GCA377157736CDH23c.6865A>G (p.Asn2289Asp)
c.798A>G (n.798A>G)
c.462A>G (n.462A>G)
c.6880A>G (p.Asn2294Asp)
c.145A>G (p.Asn49Asp)
n.401A>G
c.7060A>G (p.Asn2354Asp)
c.6994A>G (p.Asn2332Asp)
c.7057A>G (p.Asn2353Asp)
c.7054A>G (p.Asn2352Asp)
c.7000A>G (p.Asn2334Asp)
c.6970A>G (p.Asn2324Asp)
c.6925A>G (p.Asn2309Asp)
c.6520A>G (p.Asn2174Asp)
c.5878A>G (p.Asn1960Asp)
c.3388A>G (p.Asn1130Asp)
10g.71798389A>TCA377157737CDH23c.6865A>T (p.Asn2289Tyr)
c.798A>T (n.798A>T)
c.462A>T (n.462A>T)
c.6880A>T (p.Asn2294Tyr)
c.145A>T (p.Asn49Tyr)
n.401A>T
c.7060A>T (p.Asn2354Tyr)
c.6994A>T (p.Asn2332Tyr)
c.7057A>T (p.Asn2353Tyr)
c.7054A>T (p.Asn2352Tyr)
c.7000A>T (p.Asn2334Tyr)
c.6970A>T (p.Asn2324Tyr)
c.6925A>T (p.Asn2309Tyr)
c.6520A>T (p.Asn2174Tyr)
c.5878A>T (p.Asn1960Tyr)
c.3388A>T (p.Asn1130Tyr)
10g.71798390A=CA1918878420CDH23c.6866A= (p.Asn2289=)
c.799A= (n.799A=)
c.463A= (n.463A=)
c.6881A= (p.Asn2294=)
c.146A= (p.Asn49=)
n.402A=
c.7061A= (p.Asn2354=)
c.6995A= (p.Asn2332=)
c.7058A= (p.Asn2353=)
c.7055A= (p.Asn2352=)
c.7001A= (p.Asn2334=)
c.6971A= (p.Asn2324=)
c.6926A= (p.Asn2309=)
c.6521A= (p.Asn2174=)
c.5879A= (p.Asn1960=)
c.3389A= (p.Asn1130=)
10g.71798390A>CCA377157740CDH23c.6866A>C (p.Asn2289Thr)
c.799A>C (n.799A>C)
c.463A>C (n.463A>C)
c.6881A>C (p.Asn2294Thr)
c.146A>C (p.Asn49Thr)
n.402A>C
c.7061A>C (p.Asn2354Thr)
c.6995A>C (p.Asn2332Thr)
c.7058A>C (p.Asn2353Thr)
c.7055A>C (p.Asn2352Thr)
c.7001A>C (p.Asn2334Thr)
c.6971A>C (p.Asn2324Thr)
c.6926A>C (p.Asn2309Thr)
c.6521A>C (p.Asn2174Thr)
c.5879A>C (p.Asn1960Thr)
c.3389A>C (p.Asn1130Thr)
10g.71798390A>GCA10576816CDH23c.6866A>G (p.Asn2289Ser)
c.799A>G (n.799A>G)
c.463A>G (n.463A>G)
c.6881A>G (p.Asn2294Ser)
c.146A>G (p.Asn49Ser)
n.402A>G
c.7061A>G (p.Asn2354Ser)
c.6995A>G (p.Asn2332Ser)
c.7058A>G (p.Asn2353Ser)
c.7055A>G (p.Asn2352Ser)
c.7001A>G (p.Asn2334Ser)
c.6971A>G (p.Asn2324Ser)
c.6926A>G (p.Asn2309Ser)
c.6521A>G (p.Asn2174Ser)
c.5879A>G (p.Asn1960Ser)
c.3389A>G (p.Asn1130Ser)
 ClinVar dbSNP gnomAD v4
10g.71798390A>TCA377157738CDH23c.6866A>T (p.Asn2289Ile)
c.799A>T (n.799A>T)
c.463A>T (n.463A>T)
c.6881A>T (p.Asn2294Ile)
c.146A>T (p.Asn49Ile)
n.402A>T
c.7061A>T (p.Asn2354Ile)
c.6995A>T (p.Asn2332Ile)
c.7058A>T (p.Asn2353Ile)
c.7055A>T (p.Asn2352Ile)
c.7001A>T (p.Asn2334Ile)
c.6971A>T (p.Asn2324Ile)
c.6926A>T (p.Asn2309Ile)
c.6521A>T (p.Asn2174Ile)
c.5879A>T (p.Asn1960Ile)
c.3389A>T (p.Asn1130Ile)
10g.71798391delCA2580081838CDH23c.6867del (p.Asn2289LysfsTer?)
c.800del (n.800del)
c.464del (n.464del)
c.6882del (p.Asn2294LysfsTer?)
c.147del (p.Asn49LysfsTer?)
n.403del
c.7062del (p.Asn2354LysfsTer?)
c.6996del (p.Asn2332LysfsTer?)
c.7059del (p.Asn2353LysfsTer?)
c.7056del (p.Asn2352LysfsTer?)
c.7002del (p.Asn2334LysfsTer?)
c.6972del (p.Asn2324LysfsTer?)
c.6927del (p.Asn2309LysfsTer?)
c.6522del (p.Asn2174LysfsTer?)
c.5880del (p.Asn1960LysfsTer?)
c.3390del (p.Asn1130LysfsTer?)
 ClinVar
10g.71798391T>ACA377157744CDH23c.6867T>A (p.Asn2289Lys)
c.800T>A (n.800T>A)
c.464T>A (n.464T>A)
c.6882T>A (p.Asn2294Lys)
c.147T>A (p.Asn49Lys)
n.403T>A
c.7062T>A (p.Asn2354Lys)
c.6996T>A (p.Asn2332Lys)
c.7059T>A (p.Asn2353Lys)
c.7056T>A (p.Asn2352Lys)
c.7002T>A (p.Asn2334Lys)
c.6972T>A (p.Asn2324Lys)
c.6927T>A (p.Asn2309Lys)
c.6522T>A (p.Asn2174Lys)
c.5880T>A (p.Asn1960Lys)
c.3390T>A (p.Asn1130Lys)
10g.71798391T>CCA470061970CDH23c.6867T>C (p.Asn2289=)
c.800T>C (n.800T>C)
c.464T>C (n.464T>C)
c.6882T>C (p.Asn2294=)
c.147T>C (p.Asn49=)
n.403T>C
c.7062T>C (p.Asn2354=)
c.6996T>C (p.Asn2332=)
c.7059T>C (p.Asn2353=)
c.7056T>C (p.Asn2352=)
c.7002T>C (p.Asn2334=)
c.6972T>C (p.Asn2324=)
c.6927T>C (p.Asn2309=)
c.6522T>C (p.Asn2174=)
c.5880T>C (p.Asn1960=)
c.3390T>C (p.Asn1130=)
 gnomAD v4
10g.71798391T>GCA377157742CDH23c.6867T>G (p.Asn2289Lys)
c.800T>G (n.800T>G)
c.464T>G (n.464T>G)
c.6882T>G (p.Asn2294Lys)
c.147T>G (p.Asn49Lys)
n.403T>G
c.7062T>G (p.Asn2354Lys)
c.6996T>G (p.Asn2332Lys)
c.7059T>G (p.Asn2353Lys)
c.7056T>G (p.Asn2352Lys)
c.7002T>G (p.Asn2334Lys)
c.6972T>G (p.Asn2324Lys)
c.6927T>G (p.Asn2309Lys)
c.6522T>G (p.Asn2174Lys)
c.5880T>G (p.Asn1960Lys)
c.3390T>G (p.Asn1130Lys)
10g.71798392A=CA1918878421CDH23c.6868A= (p.Thr2290=)
c.801A= (n.801A=)
c.465A= (n.465A=)
c.6883A= (p.Thr2295=)
c.148A= (p.Thr50=)
n.404A=
c.7063A= (p.Thr2355=)
c.6997A= (p.Thr2333=)
c.7060A= (p.Thr2354=)
c.7057A= (p.Thr2353=)
c.7003A= (p.Thr2335=)
c.6973A= (p.Thr2325=)
c.6928A= (p.Thr2310=)
c.6523A= (p.Thr2175=)
c.5881A= (p.Thr1961=)
c.3391A= (p.Thr1131=)
10g.71798392A>CCA377157745CDH23c.6868A>C (p.Thr2290Pro)
c.801A>C (n.801A>C)
c.465A>C (n.465A>C)
c.6883A>C (p.Thr2295Pro)
c.148A>C (p.Thr50Pro)
n.404A>C
c.7063A>C (p.Thr2355Pro)
c.6997A>C (p.Thr2333Pro)
c.7060A>C (p.Thr2354Pro)
c.7057A>C (p.Thr2353Pro)
c.7003A>C (p.Thr2335Pro)
c.6973A>C (p.Thr2325Pro)
c.6928A>C (p.Thr2310Pro)
c.6523A>C (p.Thr2175Pro)
c.5881A>C (p.Thr1961Pro)
c.3391A>C (p.Thr1131Pro)
10g.71798392A>GCA377157747CDH23c.6868A>G (p.Thr2290Ala)
c.801A>G (n.801A>G)
c.465A>G (n.465A>G)
c.6883A>G (p.Thr2295Ala)
c.148A>G (p.Thr50Ala)
n.404A>G
c.7063A>G (p.Thr2355Ala)
c.6997A>G (p.Thr2333Ala)
c.7060A>G (p.Thr2354Ala)
c.7057A>G (p.Thr2353Ala)
c.7003A>G (p.Thr2335Ala)
c.6973A>G (p.Thr2325Ala)
c.6928A>G (p.Thr2310Ala)
c.6523A>G (p.Thr2175Ala)
c.5881A>G (p.Thr1961Ala)
c.3391A>G (p.Thr1131Ala)
10g.71798392A>TCA209469559CDH23c.6868A>T (p.Thr2290Ser)
c.801A>T (n.801A>T)
c.465A>T (n.465A>T)
c.6883A>T (p.Thr2295Ser)
c.148A>T (p.Thr50Ser)
n.404A>T
c.7063A>T (p.Thr2355Ser)
c.6997A>T (p.Thr2333Ser)
c.7060A>T (p.Thr2354Ser)
c.7057A>T (p.Thr2353Ser)
c.7003A>T (p.Thr2335Ser)
c.6973A>T (p.Thr2325Ser)
c.6928A>T (p.Thr2310Ser)
c.6523A>T (p.Thr2175Ser)
c.5881A>T (p.Thr1961Ser)
c.3391A>T (p.Thr1131Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798393C>ACA377157750CDH23c.6869C>A (p.Thr2290Lys)
c.802C>A (n.802C>A)
c.466C>A (n.466C>A)
c.6884C>A (p.Thr2295Lys)
c.149C>A (p.Thr50Lys)
n.405C>A
c.7064C>A (p.Thr2355Lys)
c.6998C>A (p.Thr2333Lys)
c.7061C>A (p.Thr2354Lys)
c.7058C>A (p.Thr2353Lys)
c.7004C>A (p.Thr2335Lys)
c.6974C>A (p.Thr2325Lys)
c.6929C>A (p.Thr2310Lys)
c.6524C>A (p.Thr2175Lys)
c.5882C>A (p.Thr1961Lys)
c.3392C>A (p.Thr1131Lys)
10g.71798393C=CA1918878422CDH23c.6869C= (p.Thr2290=)
c.802C= (n.802C=)
c.466C= (n.466C=)
c.6884C= (p.Thr2295=)
c.149C= (p.Thr50=)
n.405C=
c.7064C= (p.Thr2355=)
c.6998C= (p.Thr2333=)
c.7061C= (p.Thr2354=)
c.7058C= (p.Thr2353=)
c.7004C= (p.Thr2335=)
c.6974C= (p.Thr2325=)
c.6929C= (p.Thr2310=)
c.6524C= (p.Thr2175=)
c.5882C= (p.Thr1961=)
c.3392C= (p.Thr1131=)
10g.71798393C>GCA377157751CDH23c.6869C>G (p.Thr2290Arg)
c.802C>G (n.802C>G)
c.466C>G (n.466C>G)
c.6884C>G (p.Thr2295Arg)
c.149C>G (p.Thr50Arg)
n.405C>G
c.7064C>G (p.Thr2355Arg)
c.6998C>G (p.Thr2333Arg)
c.7061C>G (p.Thr2354Arg)
c.7058C>G (p.Thr2353Arg)
c.7004C>G (p.Thr2335Arg)
c.6974C>G (p.Thr2325Arg)
c.6929C>G (p.Thr2310Arg)
c.6524C>G (p.Thr2175Arg)
c.5882C>G (p.Thr1961Arg)
c.3392C>G (p.Thr1131Arg)
10g.71798393C>TCA5546213CDH23c.6869C>T (p.Thr2290Met)
c.802C>T (n.802C>T)
c.466C>T (n.466C>T)
c.6884C>T (p.Thr2295Met)
c.149C>T (p.Thr50Met)
n.405C>T
c.7064C>T (p.Thr2355Met)
c.6998C>T (p.Thr2333Met)
c.7061C>T (p.Thr2354Met)
c.7058C>T (p.Thr2353Met)
c.7004C>T (p.Thr2335Met)
c.6974C>T (p.Thr2325Met)
c.6929C>T (p.Thr2310Met)
c.6524C>T (p.Thr2175Met)
c.5882C>T (p.Thr1961Met)
c.3392C>T (p.Thr1131Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798394G>ACA5546214CDH23c.6870G>A (p.Thr2290=)
c.803G>A (n.803G>A)
c.467G>A (n.467G>A)
c.6885G>A (p.Thr2295=)
c.150G>A (p.Thr50=)
n.406G>A
c.7065G>A (p.Thr2355=)
c.6999G>A (p.Thr2333=)
c.7062G>A (p.Thr2354=)
c.7059G>A (p.Thr2353=)
c.7005G>A (p.Thr2335=)
c.6975G>A (p.Thr2325=)
c.6930G>A (p.Thr2310=)
c.6525G>A (p.Thr2175=)
c.5883G>A (p.Thr1961=)
c.3393G>A (p.Thr1131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71798394G>CCA470061973CDH23c.6870G>C (p.Thr2290=)
c.803G>C (n.803G>C)
c.467G>C (n.467G>C)
c.6885G>C (p.Thr2295=)
c.150G>C (p.Thr50=)
n.406G>C
c.7065G>C (p.Thr2355=)
c.6999G>C (p.Thr2333=)
c.7062G>C (p.Thr2354=)
c.7059G>C (p.Thr2353=)
c.7005G>C (p.Thr2335=)
c.6975G>C (p.Thr2325=)
c.6930G>C (p.Thr2310=)
c.6525G>C (p.Thr2175=)
c.5883G>C (p.Thr1961=)
c.3393G>C (p.Thr1131=)
10g.71798394G=CA1918878423CDH23c.6870G= (p.Thr2290=)
c.803G= (n.803G=)
c.467G= (n.467G=)
c.6885G= (p.Thr2295=)
c.150G= (p.Thr50=)
n.406G=
c.7065G= (p.Thr2355=)
c.6999G= (p.Thr2333=)
c.7062G= (p.Thr2354=)
c.7059G= (p.Thr2353=)
c.7005G= (p.Thr2335=)
c.6975G= (p.Thr2325=)
c.6930G= (p.Thr2310=)
c.6525G= (p.Thr2175=)
c.5883G= (p.Thr1961=)
c.3393G= (p.Thr1131=)
10g.71798394G>TCA209469563CDH23c.6870G>T (p.Thr2290=)
c.803G>T (n.803G>T)
c.467G>T (n.467G>T)
c.6885G>T (p.Thr2295=)
c.150G>T (p.Thr50=)
n.406G>T
c.7065G>T (p.Thr2355=)
c.6999G>T (p.Thr2333=)
c.7062G>T (p.Thr2354=)
c.7059G>T (p.Thr2353=)
c.7005G>T (p.Thr2335=)
c.6975G>T (p.Thr2325=)
c.6930G>T (p.Thr2310=)
c.6525G>T (p.Thr2175=)
c.5883G>T (p.Thr1961=)
c.3393G>T (p.Thr1131=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798395C>ACA377157753CDH23c.6871C>A (p.Pro2291Thr)
c.804C>A (n.804C>A)
c.468C>A (n.468C>A)
c.6886C>A (p.Pro2296Thr)
c.151C>A (p.Pro51Thr)
n.407C>A
c.7066C>A (p.Pro2356Thr)
c.7000C>A (p.Pro2334Thr)
c.7063C>A (p.Pro2355Thr)
c.7060C>A (p.Pro2354Thr)
c.7006C>A (p.Pro2336Thr)
c.6976C>A (p.Pro2326Thr)
c.6931C>A (p.Pro2311Thr)
c.6526C>A (p.Pro2176Thr)
c.5884C>A (p.Pro1962Thr)
c.3394C>A (p.Pro1132Thr)
10g.71798395C>GCA377157754CDH23c.6871C>G (p.Pro2291Ala)
c.804C>G (n.804C>G)
c.468C>G (n.468C>G)
c.6886C>G (p.Pro2296Ala)
c.151C>G (p.Pro51Ala)
n.407C>G
c.7066C>G (p.Pro2356Ala)
c.7000C>G (p.Pro2334Ala)
c.7063C>G (p.Pro2355Ala)
c.7060C>G (p.Pro2354Ala)
c.7006C>G (p.Pro2336Ala)
c.6976C>G (p.Pro2326Ala)
c.6931C>G (p.Pro2311Ala)
c.6526C>G (p.Pro2176Ala)
c.5884C>G (p.Pro1962Ala)
c.3394C>G (p.Pro1132Ala)
10g.71798395C>TCA377157756CDH23c.6871C>T (p.Pro2291Ser)
c.804C>T (n.804C>T)
c.468C>T (n.468C>T)
c.6886C>T (p.Pro2296Ser)
c.151C>T (p.Pro51Ser)
n.407C>T
c.7066C>T (p.Pro2356Ser)
c.7000C>T (p.Pro2334Ser)
c.7063C>T (p.Pro2355Ser)
c.7060C>T (p.Pro2354Ser)
c.7006C>T (p.Pro2336Ser)
c.6976C>T (p.Pro2326Ser)
c.6931C>T (p.Pro2311Ser)
c.6526C>T (p.Pro2176Ser)
c.5884C>T (p.Pro1962Ser)
c.3394C>T (p.Pro1132Ser)
 gnomAD v4
10g.71798398delCA2609587676CDH23c.6874del (p.Gln2292SerfsTer?)
c.807del (n.807del)
c.471del (n.471del)
c.6889del (p.Gln2297SerfsTer?)
c.154del (p.Gln52SerfsTer?)
n.410del
c.7069del (p.Gln2357SerfsTer?)
c.7003del (p.Gln2335SerfsTer?)
c.7066del (p.Gln2356SerfsTer?)
c.7063del (p.Gln2355SerfsTer?)
c.7009del (p.Gln2337SerfsTer?)
c.6979del (p.Gln2327SerfsTer?)
c.6934del (p.Gln2312SerfsTer?)
c.6529del (p.Gln2177SerfsTer?)
c.5887del (p.Gln1963SerfsTer?)
c.3397del (p.Gln1133SerfsTer?)
 gnomAD v4
10g.71798396C>ACA377157758CDH23c.6872C>A (p.Pro2291His)
c.805C>A (n.805C>A)
c.469C>A (n.469C>A)
c.6887C>A (p.Pro2296His)
c.152C>A (p.Pro51His)
n.408C>A
c.7067C>A (p.Pro2356His)
c.7001C>A (p.Pro2334His)
c.7064C>A (p.Pro2355His)
c.7061C>A (p.Pro2354His)
c.7007C>A (p.Pro2336His)
c.6977C>A (p.Pro2326His)
c.6932C>A (p.Pro2311His)
c.6527C>A (p.Pro2176His)
c.5885C>A (p.Pro1962His)
c.3395C>A (p.Pro1132His)
10g.71798396C>GCA377157759CDH23c.6872C>G (p.Pro2291Arg)
c.805C>G (n.805C>G)
c.469C>G (n.469C>G)
c.6887C>G (p.Pro2296Arg)
c.152C>G (p.Pro51Arg)
n.408C>G
c.7067C>G (p.Pro2356Arg)
c.7001C>G (p.Pro2334Arg)
c.7064C>G (p.Pro2355Arg)
c.7061C>G (p.Pro2354Arg)
c.7007C>G (p.Pro2336Arg)
c.6977C>G (p.Pro2326Arg)
c.6932C>G (p.Pro2311Arg)
c.6527C>G (p.Pro2176Arg)
c.5885C>G (p.Pro1962Arg)
c.3395C>G (p.Pro1132Arg)
10g.71798396C>TCA377157761CDH23c.6872C>T (p.Pro2291Leu)
c.805C>T (n.805C>T)
c.469C>T (n.469C>T)
c.6887C>T (p.Pro2296Leu)
c.152C>T (p.Pro51Leu)
n.408C>T
c.7067C>T (p.Pro2356Leu)
c.7001C>T (p.Pro2334Leu)
c.7064C>T (p.Pro2355Leu)
c.7061C>T (p.Pro2354Leu)
c.7007C>T (p.Pro2336Leu)
c.6977C>T (p.Pro2326Leu)
c.6932C>T (p.Pro2311Leu)
c.6527C>T (p.Pro2176Leu)
c.5885C>T (p.Pro1962Leu)
c.3395C>T (p.Pro1132Leu)
10g.71798397C>ACA470061975CDH23c.6873C>A (p.Pro2291=)
c.806C>A (n.806C>A)
c.470C>A (n.470C>A)
c.6888C>A (p.Pro2296=)
c.153C>A (p.Pro51=)
n.409C>A
c.7068C>A (p.Pro2356=)
c.7002C>A (p.Pro2334=)
c.7065C>A (p.Pro2355=)
c.7062C>A (p.Pro2354=)
c.7008C>A (p.Pro2336=)
c.6978C>A (p.Pro2326=)
c.6933C>A (p.Pro2311=)
c.6528C>A (p.Pro2176=)
c.5886C>A (p.Pro1962=)
c.3396C>A (p.Pro1132=)
10g.71798397C=CA1918878424CDH23c.6873C= (p.Pro2291=)
c.806C= (n.806C=)
c.470C= (n.470C=)
c.6888C= (p.Pro2296=)
c.153C= (p.Pro51=)
n.409C=
c.7068C= (p.Pro2356=)
c.7002C= (p.Pro2334=)
c.7065C= (p.Pro2355=)
c.7062C= (p.Pro2354=)
c.7008C= (p.Pro2336=)
c.6978C= (p.Pro2326=)
c.6933C= (p.Pro2311=)
c.6528C= (p.Pro2176=)
c.5886C= (p.Pro1962=)
c.3396C= (p.Pro1132=)
10g.71798397C>GCA470061976CDH23c.6873C>G (p.Pro2291=)
c.806C>G (n.806C>G)
c.470C>G (n.470C>G)
c.6888C>G (p.Pro2296=)
c.153C>G (p.Pro51=)
n.409C>G
c.7068C>G (p.Pro2356=)
c.7002C>G (p.Pro2334=)
c.7065C>G (p.Pro2355=)
c.7062C>G (p.Pro2354=)
c.7008C>G (p.Pro2336=)
c.6978C>G (p.Pro2326=)
c.6933C>G (p.Pro2311=)
c.6528C>G (p.Pro2176=)
c.5886C>G (p.Pro1962=)
c.3396C>G (p.Pro1132=)
10g.71798397C>TCA5546215CDH23c.6873C>T (p.Pro2291=)
c.806C>T (n.806C>T)
c.470C>T (n.470C>T)
c.6888C>T (p.Pro2296=)
c.153C>T (p.Pro51=)
n.409C>T
c.7068C>T (p.Pro2356=)
c.7002C>T (p.Pro2334=)
c.7065C>T (p.Pro2355=)
c.7062C>T (p.Pro2354=)
c.7008C>T (p.Pro2336=)
c.6978C>T (p.Pro2326=)
c.6933C>T (p.Pro2311=)
c.6528C>T (p.Pro2176=)
c.5886C>T (p.Pro1962=)
c.3396C>T (p.Pro1132=)
 dbSNP ExAC gnomAD v2
10g.71798398C>ACA377157763CDH23c.6874C>A (p.Gln2292Lys)
c.807C>A (n.807C>A)
c.471C>A (n.471C>A)
c.6889C>A (p.Gln2297Lys)
c.154C>A (p.Gln52Lys)
n.410C>A
c.7069C>A (p.Gln2357Lys)
c.7003C>A (p.Gln2335Lys)
c.7066C>A (p.Gln2356Lys)
c.7063C>A (p.Gln2355Lys)
c.7009C>A (p.Gln2337Lys)
c.6979C>A (p.Gln2327Lys)
c.6934C>A (p.Gln2312Lys)
c.6529C>A (p.Gln2177Lys)
c.5887C>A (p.Gln1963Lys)
c.3397C>A (p.Gln1133Lys)
10g.71798398C>GCA377157765CDH23c.6874C>G (p.Gln2292Glu)
c.807C>G (n.807C>G)
c.471C>G (n.471C>G)
c.6889C>G (p.Gln2297Glu)
c.154C>G (p.Gln52Glu)
n.410C>G
c.7069C>G (p.Gln2357Glu)
c.7003C>G (p.Gln2335Glu)
c.7066C>G (p.Gln2356Glu)
c.7063C>G (p.Gln2355Glu)
c.7009C>G (p.Gln2337Glu)
c.6979C>G (p.Gln2327Glu)
c.6934C>G (p.Gln2312Glu)
c.6529C>G (p.Gln2177Glu)
c.5887C>G (p.Gln1963Glu)
c.3397C>G (p.Gln1133Glu)
10g.71798398C>TCA377157767CDH23c.6874C>T (p.Gln2292Ter)
c.807C>T (n.807C>T)
c.471C>T (n.471C>T)
c.6889C>T (p.Gln2297Ter)
c.154C>T (p.Gln52Ter)
n.410C>T
c.7069C>T (p.Gln2357Ter)
c.7003C>T (p.Gln2335Ter)
c.7066C>T (p.Gln2356Ter)
c.7063C>T (p.Gln2355Ter)
c.7009C>T (p.Gln2337Ter)
c.6979C>T (p.Gln2327Ter)
c.6934C>T (p.Gln2312Ter)
c.6529C>T (p.Gln2177Ter)
c.5887C>T (p.Gln1963Ter)
c.3397C>T (p.Gln1133Ter)
10g.71798399A=CA1918878425CDH23c.6875A= (p.Gln2292=)
c.808A= (n.808A=)
c.472A= (n.472A=)
c.6890A= (p.Gln2297=)
c.155A= (p.Gln52=)
n.411A=
c.7070A= (p.Gln2357=)
c.7004A= (p.Gln2335=)
c.7067A= (p.Gln2356=)
c.7064A= (p.Gln2355=)
c.7010A= (p.Gln2337=)
c.6980A= (p.Gln2327=)
c.6935A= (p.Gln2312=)
c.6530A= (p.Gln2177=)
c.5888A= (p.Gln1963=)
c.3398A= (p.Gln1133=)
10g.71798399A>CCA377157768CDH23c.6875A>C (p.Gln2292Pro)
c.808A>C (n.808A>C)
c.472A>C (n.472A>C)
c.6890A>C (p.Gln2297Pro)
c.155A>C (p.Gln52Pro)
n.411A>C
c.7070A>C (p.Gln2357Pro)
c.7004A>C (p.Gln2335Pro)
c.7067A>C (p.Gln2356Pro)
c.7064A>C (p.Gln2355Pro)
c.7010A>C (p.Gln2337Pro)
c.6980A>C (p.Gln2327Pro)
c.6935A>C (p.Gln2312Pro)
c.6530A>C (p.Gln2177Pro)
c.5888A>C (p.Gln1963Pro)
c.3398A>C (p.Gln1133Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.71798399A>GCA377157770CDH23c.6875A>G (p.Gln2292Arg)
c.808A>G (n.808A>G)
c.472A>G (n.472A>G)
c.6890A>G (p.Gln2297Arg)
c.155A>G (p.Gln52Arg)
n.411A>G
c.7070A>G (p.Gln2357Arg)
c.7004A>G (p.Gln2335Arg)
c.7067A>G (p.Gln2356Arg)
c.7064A>G (p.Gln2355Arg)
c.7010A>G (p.Gln2337Arg)
c.6980A>G (p.Gln2327Arg)
c.6935A>G (p.Gln2312Arg)
c.6530A>G (p.Gln2177Arg)
c.5888A>G (p.Gln1963Arg)
c.3398A>G (p.Gln1133Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.71798399A>TCA377157771CDH23c.6875A>T (p.Gln2292Leu)
c.808A>T (n.808A>T)
c.472A>T (n.472A>T)
c.6890A>T (p.Gln2297Leu)
c.155A>T (p.Gln52Leu)
n.411A>T
c.7070A>T (p.Gln2357Leu)
c.7004A>T (p.Gln2335Leu)
c.7067A>T (p.Gln2356Leu)
c.7064A>T (p.Gln2355Leu)
c.7010A>T (p.Gln2337Leu)
c.6980A>T (p.Gln2327Leu)
c.6935A>T (p.Gln2312Leu)
c.6530A>T (p.Gln2177Leu)
c.5888A>T (p.Gln1963Leu)
c.3398A>T (p.Gln1133Leu)

Number of alleles fetched