Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71784797_71784870delCA2609543387CDH23c.5503-94_5503-21del (n.5503-94_5503-21del)
c.5518-94_5518-21del (n.5518-94_5518-21del)
c.5698-94_5698-21del (n.5698-94_5698-21del)
c.5632-94_5632-21del (n.5632-94_5632-21del)
c.5695-94_5695-21del (n.5695-94_5695-21del)
c.5692-94_5692-21del (n.5692-94_5692-21del)
c.5638-94_5638-21del (n.5638-94_5638-21del)
c.5563-94_5563-21del (n.5563-94_5563-21del)
c.5158-94_5158-21del (n.5158-94_5158-21del)
c.4516-94_4516-21del (n.4516-94_4516-21del)
c.2026-94_2026-21del (n.2026-94_2026-21del)
n.5941-94_5941-21del
 gnomAD v4
10g.71784827_71784874delCA2609543464CDH23c.5503-64_5503-17del (n.5503-64_5503-17del)
c.5518-64_5518-17del (n.5518-64_5518-17del)
c.5698-64_5698-17del (n.5698-64_5698-17del)
c.5632-64_5632-17del (n.5632-64_5632-17del)
c.5695-64_5695-17del (n.5695-64_5695-17del)
c.5692-64_5692-17del (n.5692-64_5692-17del)
c.5638-64_5638-17del (n.5638-64_5638-17del)
c.5563-64_5563-17del (n.5563-64_5563-17del)
c.5158-64_5158-17del (n.5158-64_5158-17del)
c.4516-64_4516-17del (n.4516-64_4516-17del)
c.2026-64_2026-17del (n.2026-64_2026-17del)
n.5941-64_5941-17del
 gnomAD v4
10g.71784828_71784872delCA2609543469CDH23c.5503-63_5503-19del (n.5503-63_5503-19del)
c.5518-63_5518-19del (n.5518-63_5518-19del)
c.5698-63_5698-19del (n.5698-63_5698-19del)
c.5632-63_5632-19del (n.5632-63_5632-19del)
c.5695-63_5695-19del (n.5695-63_5695-19del)
c.5692-63_5692-19del (n.5692-63_5692-19del)
c.5638-63_5638-19del (n.5638-63_5638-19del)
c.5563-63_5563-19del (n.5563-63_5563-19del)
c.5158-63_5158-19del (n.5158-63_5158-19del)
c.4516-63_4516-19del (n.4516-63_4516-19del)
c.2026-63_2026-19del (n.2026-63_2026-19del)
n.5941-63_5941-19del
 gnomAD v4
10g.71784863_71784867delCA2609543557CDH23c.5503-28_5503-24del (n.5503-28_5503-24del)
c.5518-28_5518-24del (n.5518-28_5518-24del)
c.5698-28_5698-24del (n.5698-28_5698-24del)
c.5632-28_5632-24del (n.5632-28_5632-24del)
c.5695-28_5695-24del (n.5695-28_5695-24del)
c.5692-28_5692-24del (n.5692-28_5692-24del)
c.5638-28_5638-24del (n.5638-28_5638-24del)
c.5563-28_5563-24del (n.5563-28_5563-24del)
c.5158-28_5158-24del (n.5158-28_5158-24del)
c.4516-28_4516-24del (n.4516-28_4516-24del)
c.2026-28_2026-24del (n.2026-28_2026-24del)
n.5941-28_5941-24del
 gnomAD v4
10g.71784861C>ACA2609543572CDH23c.5503-30C>A (n.5503-30C>A)
c.5518-30C>A (n.5518-30C>A)
c.5698-30C>A (n.5698-30C>A)
c.5632-30C>A (n.5632-30C>A)
c.5695-30C>A (n.5695-30C>A)
c.5692-30C>A (n.5692-30C>A)
c.5638-30C>A (n.5638-30C>A)
c.5563-30C>A (n.5563-30C>A)
c.5158-30C>A (n.5158-30C>A)
c.4516-30C>A (n.4516-30C>A)
c.2026-30C>A (n.2026-30C>A)
n.5941-30C>A
 gnomAD v4
10g.71784861C>TCA2609543570CDH23c.5503-30C>T (n.5503-30C>T)
c.5518-30C>T (n.5518-30C>T)
c.5698-30C>T (n.5698-30C>T)
c.5632-30C>T (n.5632-30C>T)
c.5695-30C>T (n.5695-30C>T)
c.5692-30C>T (n.5692-30C>T)
c.5638-30C>T (n.5638-30C>T)
c.5563-30C>T (n.5563-30C>T)
c.5158-30C>T (n.5158-30C>T)
c.4516-30C>T (n.4516-30C>T)
c.2026-30C>T (n.2026-30C>T)
n.5941-30C>T
 gnomAD v4
10g.71784867_71784870delCA2609543568CDH23c.5503-24_5503-21del (n.5503-24_5503-21del)
c.5518-24_5518-21del (n.5518-24_5518-21del)
c.5698-24_5698-21del (n.5698-24_5698-21del)
c.5632-24_5632-21del (n.5632-24_5632-21del)
c.5695-24_5695-21del (n.5695-24_5695-21del)
c.5692-24_5692-21del (n.5692-24_5692-21del)
c.5638-24_5638-21del (n.5638-24_5638-21del)
c.5563-24_5563-21del (n.5563-24_5563-21del)
c.5158-24_5158-21del (n.5158-24_5158-21del)
c.4516-24_4516-21del (n.4516-24_4516-21del)
c.2026-24_2026-21del (n.2026-24_2026-21del)
n.5941-24_5941-21del
 gnomAD v4
10g.71784862C>ACA2609543573CDH23c.5503-29C>A (n.5503-29C>A)
c.5518-29C>A (n.5518-29C>A)
c.5698-29C>A (n.5698-29C>A)
c.5632-29C>A (n.5632-29C>A)
c.5695-29C>A (n.5695-29C>A)
c.5692-29C>A (n.5692-29C>A)
c.5638-29C>A (n.5638-29C>A)
c.5563-29C>A (n.5563-29C>A)
c.5158-29C>A (n.5158-29C>A)
c.4516-29C>A (n.4516-29C>A)
c.2026-29C>A (n.2026-29C>A)
n.5941-29C>A
 gnomAD v4
10g.71784862C=CA1918861940CDH23c.5503-29C= (n.5503-29C=)
c.5518-29C= (n.5518-29C=)
c.5698-29C= (n.5698-29C=)
c.5632-29C= (n.5632-29C=)
c.5695-29C= (n.5695-29C=)
c.5692-29C= (n.5692-29C=)
c.5638-29C= (n.5638-29C=)
c.5563-29C= (n.5563-29C=)
c.5158-29C= (n.5158-29C=)
c.4516-29C= (n.4516-29C=)
c.2026-29C= (n.2026-29C=)
n.5941-29C=
10g.71784862C>TCA5545794CDH23c.5503-29C>T (n.5503-29C>T)
c.5518-29C>T (n.5518-29C>T)
c.5698-29C>T (n.5698-29C>T)
c.5632-29C>T (n.5632-29C>T)
c.5695-29C>T (n.5695-29C>T)
c.5692-29C>T (n.5692-29C>T)
c.5638-29C>T (n.5638-29C>T)
c.5563-29C>T (n.5563-29C>T)
c.5158-29C>T (n.5158-29C>T)
c.4516-29C>T (n.4516-29C>T)
c.2026-29C>T (n.2026-29C>T)
n.5941-29C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784863C>ACA2609543576CDH23c.5503-28C>A (n.5503-28C>A)
c.5518-28C>A (n.5518-28C>A)
c.5698-28C>A (n.5698-28C>A)
c.5632-28C>A (n.5632-28C>A)
c.5695-28C>A (n.5695-28C>A)
c.5692-28C>A (n.5692-28C>A)
c.5638-28C>A (n.5638-28C>A)
c.5563-28C>A (n.5563-28C>A)
c.5158-28C>A (n.5158-28C>A)
c.4516-28C>A (n.4516-28C>A)
c.2026-28C>A (n.2026-28C>A)
n.5941-28C>A
 gnomAD v4
10g.71784863C=CA1918861944CDH23c.5503-28C= (n.5503-28C=)
c.5518-28C= (n.5518-28C=)
c.5698-28C= (n.5698-28C=)
c.5632-28C= (n.5632-28C=)
c.5695-28C= (n.5695-28C=)
c.5692-28C= (n.5692-28C=)
c.5638-28C= (n.5638-28C=)
c.5563-28C= (n.5563-28C=)
c.5158-28C= (n.5158-28C=)
c.4516-28C= (n.4516-28C=)
c.2026-28C= (n.2026-28C=)
n.5941-28C=
10g.71784863C>GCA1918861945CDH23c.5503-28C>G (n.5503-28C>G)
c.5518-28C>G (n.5518-28C>G)
c.5698-28C>G (n.5698-28C>G)
c.5632-28C>G (n.5632-28C>G)
c.5695-28C>G (n.5695-28C>G)
c.5692-28C>G (n.5692-28C>G)
c.5638-28C>G (n.5638-28C>G)
c.5563-28C>G (n.5563-28C>G)
c.5158-28C>G (n.5158-28C>G)
c.4516-28C>G (n.4516-28C>G)
c.2026-28C>G (n.2026-28C>G)
n.5941-28C>G
 dbSNP
10g.71784863C>TCA5545795CDH23c.5503-28C>T (n.5503-28C>T)
c.5518-28C>T (n.5518-28C>T)
c.5698-28C>T (n.5698-28C>T)
c.5632-28C>T (n.5632-28C>T)
c.5695-28C>T (n.5695-28C>T)
c.5692-28C>T (n.5692-28C>T)
c.5638-28C>T (n.5638-28C>T)
c.5563-28C>T (n.5563-28C>T)
c.5158-28C>T (n.5158-28C>T)
c.4516-28C>T (n.4516-28C>T)
c.2026-28C>T (n.2026-28C>T)
n.5941-28C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784864T>CCA929786430CDH23c.5503-27T>C (n.5503-27T>C)
c.5518-27T>C (n.5518-27T>C)
c.5698-27T>C (n.5698-27T>C)
c.5632-27T>C (n.5632-27T>C)
c.5695-27T>C (n.5695-27T>C)
c.5692-27T>C (n.5692-27T>C)
c.5638-27T>C (n.5638-27T>C)
c.5563-27T>C (n.5563-27T>C)
c.5158-27T>C (n.5158-27T>C)
c.4516-27T>C (n.4516-27T>C)
c.2026-27T>C (n.2026-27T>C)
n.5941-27T>C
 gnomAD v3 gnomAD v4
10g.71784867delCA2574578093CDH23c.5503-24del (n.5503-24del)
c.5518-24del (n.5518-24del)
c.5698-24del (n.5698-24del)
c.5632-24del (n.5632-24del)
c.5695-24del (n.5695-24del)
c.5692-24del (n.5692-24del)
c.5638-24del (n.5638-24del)
c.5563-24del (n.5563-24del)
c.5158-24del (n.5158-24del)
c.4516-24del (n.4516-24del)
c.2026-24del (n.2026-24del)
n.5941-24del
10g.71784865_71784868delinsCCCTCA1918861949CDH23c.5503-26_5503-23delinsCCCT (n.5503-26_5503-23delinsCCCT)
c.5518-26_5518-23delinsCCCT (n.5518-26_5518-23delinsCCCT)
c.5698-26_5698-23delinsCCCT (n.5698-26_5698-23delinsCCCT)
c.5632-26_5632-23delinsCCCT (n.5632-26_5632-23delinsCCCT)
c.5695-26_5695-23delinsCCCT (n.5695-26_5695-23delinsCCCT)
c.5692-26_5692-23delinsCCCT (n.5692-26_5692-23delinsCCCT)
c.5638-26_5638-23delinsCCCT (n.5638-26_5638-23delinsCCCT)
c.5563-26_5563-23delinsCCCT (n.5563-26_5563-23delinsCCCT)
c.5158-26_5158-23delinsCCCT (n.5158-26_5158-23delinsCCCT)
c.4516-26_4516-23delinsCCCT (n.4516-26_4516-23delinsCCCT)
c.2026-26_2026-23delinsCCCT (n.2026-26_2026-23delinsCCCT)
n.5941-26_5941-23delinsCCCT
10g.71784866C>ACA2609543582CDH23c.5503-25C>A (n.5503-25C>A)
c.5518-25C>A (n.5518-25C>A)
c.5698-25C>A (n.5698-25C>A)
c.5632-25C>A (n.5632-25C>A)
c.5695-25C>A (n.5695-25C>A)
c.5692-25C>A (n.5692-25C>A)
c.5638-25C>A (n.5638-25C>A)
c.5563-25C>A (n.5563-25C>A)
c.5158-25C>A (n.5158-25C>A)
c.4516-25C>A (n.4516-25C>A)
c.2026-25C>A (n.2026-25C>A)
n.5941-25C>A
 gnomAD v4
10g.71784866C>TCA2609543581CDH23c.5503-25C>T (n.5503-25C>T)
c.5518-25C>T (n.5518-25C>T)
c.5698-25C>T (n.5698-25C>T)
c.5632-25C>T (n.5632-25C>T)
c.5695-25C>T (n.5695-25C>T)
c.5692-25C>T (n.5692-25C>T)
c.5638-25C>T (n.5638-25C>T)
c.5563-25C>T (n.5563-25C>T)
c.5158-25C>T (n.5158-25C>T)
c.4516-25C>T (n.4516-25C>T)
c.2026-25C>T (n.2026-25C>T)
n.5941-25C>T
 dbSNP gnomAD v4
10g.71784872_71784874delCA1918861954CDH23c.5503-19_5503-17del (n.5503-19_5503-17del)
c.5518-19_5518-17del (n.5518-19_5518-17del)
c.5698-19_5698-17del (n.5698-19_5698-17del)
c.5632-19_5632-17del (n.5632-19_5632-17del)
c.5695-19_5695-17del (n.5695-19_5695-17del)
c.5692-19_5692-17del (n.5692-19_5692-17del)
c.5638-19_5638-17del (n.5638-19_5638-17del)
c.5563-19_5563-17del (n.5563-19_5563-17del)
c.5158-19_5158-17del (n.5158-19_5158-17del)
c.4516-19_4516-17del (n.4516-19_4516-17del)
c.2026-19_2026-17del (n.2026-19_2026-17del)
n.5941-19_5941-17del
 dbSNP gnomAD v4
10g.71784867C>ACA2609543585CDH23c.5503-24C>A (n.5503-24C>A)
c.5518-24C>A (n.5518-24C>A)
c.5698-24C>A (n.5698-24C>A)
c.5632-24C>A (n.5632-24C>A)
c.5695-24C>A (n.5695-24C>A)
c.5692-24C>A (n.5692-24C>A)
c.5638-24C>A (n.5638-24C>A)
c.5563-24C>A (n.5563-24C>A)
c.5158-24C>A (n.5158-24C>A)
c.4516-24C>A (n.4516-24C>A)
c.2026-24C>A (n.2026-24C>A)
n.5941-24C>A
 gnomAD v4
10g.71784868T>CCA2609543586CDH23c.5503-23T>C (n.5503-23T>C)
c.5518-23T>C (n.5518-23T>C)
c.5698-23T>C (n.5698-23T>C)
c.5632-23T>C (n.5632-23T>C)
c.5695-23T>C (n.5695-23T>C)
c.5692-23T>C (n.5692-23T>C)
c.5638-23T>C (n.5638-23T>C)
c.5563-23T>C (n.5563-23T>C)
c.5158-23T>C (n.5158-23T>C)
c.4516-23T>C (n.4516-23T>C)
c.2026-23T>C (n.2026-23T>C)
n.5941-23T>C
 gnomAD v4
10g.71784869C>ACA2609543588CDH23c.5503-22C>A (n.5503-22C>A)
c.5518-22C>A (n.5518-22C>A)
c.5698-22C>A (n.5698-22C>A)
c.5632-22C>A (n.5632-22C>A)
c.5695-22C>A (n.5695-22C>A)
c.5692-22C>A (n.5692-22C>A)
c.5638-22C>A (n.5638-22C>A)
c.5563-22C>A (n.5563-22C>A)
c.5158-22C>A (n.5158-22C>A)
c.4516-22C>A (n.4516-22C>A)
c.2026-22C>A (n.2026-22C>A)
n.5941-22C>A
 gnomAD v4
10g.71784869C>TCA2574578094CDH23c.5503-22C>T (n.5503-22C>T)
c.5518-22C>T (n.5518-22C>T)
c.5698-22C>T (n.5698-22C>T)
c.5632-22C>T (n.5632-22C>T)
c.5695-22C>T (n.5695-22C>T)
c.5692-22C>T (n.5692-22C>T)
c.5638-22C>T (n.5638-22C>T)
c.5563-22C>T (n.5563-22C>T)
c.5158-22C>T (n.5158-22C>T)
c.4516-22C>T (n.4516-22C>T)
c.2026-22C>T (n.2026-22C>T)
n.5941-22C>T
 gnomAD v4
10g.71784870C>ACA2574578095CDH23c.5503-21C>A (n.5503-21C>A)
c.5518-21C>A (n.5518-21C>A)
c.5698-21C>A (n.5698-21C>A)
c.5632-21C>A (n.5632-21C>A)
c.5695-21C>A (n.5695-21C>A)
c.5692-21C>A (n.5692-21C>A)
c.5638-21C>A (n.5638-21C>A)
c.5563-21C>A (n.5563-21C>A)
c.5158-21C>A (n.5158-21C>A)
c.4516-21C>A (n.4516-21C>A)
c.2026-21C>A (n.2026-21C>A)
n.5941-21C>A
 gnomAD v4
10g.71784870C>TCA2609543592CDH23c.5503-21C>T (n.5503-21C>T)
c.5518-21C>T (n.5518-21C>T)
c.5698-21C>T (n.5698-21C>T)
c.5632-21C>T (n.5632-21C>T)
c.5695-21C>T (n.5695-21C>T)
c.5692-21C>T (n.5692-21C>T)
c.5638-21C>T (n.5638-21C>T)
c.5563-21C>T (n.5563-21C>T)
c.5158-21C>T (n.5158-21C>T)
c.4516-21C>T (n.4516-21C>T)
c.2026-21C>T (n.2026-21C>T)
n.5941-21C>T
 gnomAD v4
10g.71784872C>ACA2609543596CDH23c.5503-19C>A (n.5503-19C>A)
c.5518-19C>A (n.5518-19C>A)
c.5698-19C>A (n.5698-19C>A)
c.5632-19C>A (n.5632-19C>A)
c.5695-19C>A (n.5695-19C>A)
c.5692-19C>A (n.5692-19C>A)
c.5638-19C>A (n.5638-19C>A)
c.5563-19C>A (n.5563-19C>A)
c.5158-19C>A (n.5158-19C>A)
c.4516-19C>A (n.4516-19C>A)
c.2026-19C>A (n.2026-19C>A)
n.5941-19C>A
 ClinVar gnomAD v4
10g.71784872C>GCA2574578096CDH23c.5503-19C>G (n.5503-19C>G)
c.5518-19C>G (n.5518-19C>G)
c.5698-19C>G (n.5698-19C>G)
c.5632-19C>G (n.5632-19C>G)
c.5695-19C>G (n.5695-19C>G)
c.5692-19C>G (n.5692-19C>G)
c.5638-19C>G (n.5638-19C>G)
c.5563-19C>G (n.5563-19C>G)
c.5158-19C>G (n.5158-19C>G)
c.4516-19C>G (n.4516-19C>G)
c.2026-19C>G (n.2026-19C>G)
n.5941-19C>G
 gnomAD v4
10g.71784872C>TCA2722284646CDH23c.5503-19C>T (n.5503-19C>T)
c.5518-19C>T (n.5518-19C>T)
c.5698-19C>T (n.5698-19C>T)
c.5632-19C>T (n.5632-19C>T)
c.5695-19C>T (n.5695-19C>T)
c.5692-19C>T (n.5692-19C>T)
c.5638-19C>T (n.5638-19C>T)
c.5563-19C>T (n.5563-19C>T)
c.5158-19C>T (n.5158-19C>T)
c.4516-19C>T (n.4516-19C>T)
c.2026-19C>T (n.2026-19C>T)
n.5941-19C>T
 dbSNP
10g.71784873C>ACA5545796CDH23c.5503-18C>A (n.5503-18C>A)
c.5518-18C>A (n.5518-18C>A)
c.5698-18C>A (n.5698-18C>A)
c.5632-18C>A (n.5632-18C>A)
c.5695-18C>A (n.5695-18C>A)
c.5692-18C>A (n.5692-18C>A)
c.5638-18C>A (n.5638-18C>A)
c.5563-18C>A (n.5563-18C>A)
c.5158-18C>A (n.5158-18C>A)
c.4516-18C>A (n.4516-18C>A)
c.2026-18C>A (n.2026-18C>A)
n.5941-18C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784873C=CA1918861957CDH23c.5503-18C= (n.5503-18C=)
c.5518-18C= (n.5518-18C=)
c.5698-18C= (n.5698-18C=)
c.5632-18C= (n.5632-18C=)
c.5695-18C= (n.5695-18C=)
c.5692-18C= (n.5692-18C=)
c.5638-18C= (n.5638-18C=)
c.5563-18C= (n.5563-18C=)
c.5158-18C= (n.5158-18C=)
c.4516-18C= (n.4516-18C=)
c.2026-18C= (n.2026-18C=)
n.5941-18C=
10g.71784873C>TCA2609543604CDH23c.5503-18C>T (n.5503-18C>T)
c.5518-18C>T (n.5518-18C>T)
c.5698-18C>T (n.5698-18C>T)
c.5632-18C>T (n.5632-18C>T)
c.5695-18C>T (n.5695-18C>T)
c.5692-18C>T (n.5692-18C>T)
c.5638-18C>T (n.5638-18C>T)
c.5563-18C>T (n.5563-18C>T)
c.5158-18C>T (n.5158-18C>T)
c.4516-18C>T (n.4516-18C>T)
c.2026-18C>T (n.2026-18C>T)
n.5941-18C>T
 gnomAD v4
10g.71784875_71784877delCA2580082136CDH23c.5503-16_5503-14del (n.5503-16_5503-14del)
c.5518-16_5518-14del (n.5518-16_5518-14del)
c.5698-16_5698-14del (n.5698-16_5698-14del)
c.5632-16_5632-14del (n.5632-16_5632-14del)
c.5695-16_5695-14del (n.5695-16_5695-14del)
c.5692-16_5692-14del (n.5692-16_5692-14del)
c.5638-16_5638-14del (n.5638-16_5638-14del)
c.5563-16_5563-14del (n.5563-16_5563-14del)
c.5158-16_5158-14del (n.5158-16_5158-14del)
c.4516-16_4516-14del (n.4516-16_4516-14del)
c.2026-16_2026-14del (n.2026-16_2026-14del)
n.5941-16_5941-14del
 ClinVar
10g.71784875T>GCA1918861959CDH23c.5503-16T>G (n.5503-16T>G)
c.5518-16T>G (n.5518-16T>G)
c.5698-16T>G (n.5698-16T>G)
c.5632-16T>G (n.5632-16T>G)
c.5695-16T>G (n.5695-16T>G)
c.5692-16T>G (n.5692-16T>G)
c.5638-16T>G (n.5638-16T>G)
c.5563-16T>G (n.5563-16T>G)
c.5158-16T>G (n.5158-16T>G)
c.4516-16T>G (n.4516-16T>G)
c.2026-16T>G (n.2026-16T>G)
n.5941-16T>G
 dbSNP
10g.71784875T=CA1918861958CDH23c.5503-16T= (n.5503-16T=)
c.5518-16T= (n.5518-16T=)
c.5698-16T= (n.5698-16T=)
c.5632-16T= (n.5632-16T=)
c.5695-16T= (n.5695-16T=)
c.5692-16T= (n.5692-16T=)
c.5638-16T= (n.5638-16T=)
c.5563-16T= (n.5563-16T=)
c.5158-16T= (n.5158-16T=)
c.4516-16T= (n.4516-16T=)
c.2026-16T= (n.2026-16T=)
n.5941-16T=
10g.71784876C>ACA2609543608CDH23c.5503-15C>A (n.5503-15C>A)
c.5518-15C>A (n.5518-15C>A)
c.5698-15C>A (n.5698-15C>A)
c.5632-15C>A (n.5632-15C>A)
c.5695-15C>A (n.5695-15C>A)
c.5692-15C>A (n.5692-15C>A)
c.5638-15C>A (n.5638-15C>A)
c.5563-15C>A (n.5563-15C>A)
c.5158-15C>A (n.5158-15C>A)
c.4516-15C>A (n.4516-15C>A)
c.2026-15C>A (n.2026-15C>A)
n.5941-15C>A
 gnomAD v4
10g.71784877T>ACA1918861961CDH23c.5503-14T>A (n.5503-14T>A)
c.5518-14T>A (n.5518-14T>A)
c.5698-14T>A (n.5698-14T>A)
c.5632-14T>A (n.5632-14T>A)
c.5695-14T>A (n.5695-14T>A)
c.5692-14T>A (n.5692-14T>A)
c.5638-14T>A (n.5638-14T>A)
c.5563-14T>A (n.5563-14T>A)
c.5158-14T>A (n.5158-14T>A)
c.4516-14T>A (n.4516-14T>A)
c.2026-14T>A (n.2026-14T>A)
n.5941-14T>A
 ClinVar dbSNP gnomAD v4
10g.71784877T>CCA5545797CDH23c.5503-14T>C (n.5503-14T>C)
c.5518-14T>C (n.5518-14T>C)
c.5698-14T>C (n.5698-14T>C)
c.5632-14T>C (n.5632-14T>C)
c.5695-14T>C (n.5695-14T>C)
c.5692-14T>C (n.5692-14T>C)
c.5638-14T>C (n.5638-14T>C)
c.5563-14T>C (n.5563-14T>C)
c.5158-14T>C (n.5158-14T>C)
c.4516-14T>C (n.4516-14T>C)
c.2026-14T>C (n.2026-14T>C)
n.5941-14T>C
 dbSNP ExAC
10g.71784877T=CA1918861960CDH23c.5503-14T= (n.5503-14T=)
c.5518-14T= (n.5518-14T=)
c.5698-14T= (n.5698-14T=)
c.5632-14T= (n.5632-14T=)
c.5695-14T= (n.5695-14T=)
c.5692-14T= (n.5692-14T=)
c.5638-14T= (n.5638-14T=)
c.5563-14T= (n.5563-14T=)
c.5158-14T= (n.5158-14T=)
c.4516-14T= (n.4516-14T=)
c.2026-14T= (n.2026-14T=)
n.5941-14T=
10g.71784878C>ACA2609543610CDH23c.5503-13C>A (n.5503-13C>A)
c.5518-13C>A (n.5518-13C>A)
c.5698-13C>A (n.5698-13C>A)
c.5632-13C>A (n.5632-13C>A)
c.5695-13C>A (n.5695-13C>A)
c.5692-13C>A (n.5692-13C>A)
c.5638-13C>A (n.5638-13C>A)
c.5563-13C>A (n.5563-13C>A)
c.5158-13C>A (n.5158-13C>A)
c.4516-13C>A (n.4516-13C>A)
c.2026-13C>A (n.2026-13C>A)
n.5941-13C>A
 dbSNP gnomAD v4
10g.71784880G>ACA1918861965CDH23c.5503-11G>A (n.5503-11G>A)
c.5518-11G>A (n.5518-11G>A)
c.5698-11G>A (n.5698-11G>A)
c.5632-11G>A (n.5632-11G>A)
c.5695-11G>A (n.5695-11G>A)
c.5692-11G>A (n.5692-11G>A)
c.5638-11G>A (n.5638-11G>A)
c.5563-11G>A (n.5563-11G>A)
c.5158-11G>A (n.5158-11G>A)
c.4516-11G>A (n.4516-11G>A)
c.2026-11G>A (n.2026-11G>A)
n.5941-11G>A
 ClinVar dbSNP gnomAD v4
10g.71784880G=CA1918861964CDH23c.5503-11G= (n.5503-11G=)
c.5518-11G= (n.5518-11G=)
c.5698-11G= (n.5698-11G=)
c.5632-11G= (n.5632-11G=)
c.5695-11G= (n.5695-11G=)
c.5692-11G= (n.5692-11G=)
c.5638-11G= (n.5638-11G=)
c.5563-11G= (n.5563-11G=)
c.5158-11G= (n.5158-11G=)
c.4516-11G= (n.4516-11G=)
c.2026-11G= (n.2026-11G=)
n.5941-11G=
10g.71784880G>TCA594706071CDH23c.5503-11G>T (n.5503-11G>T)
c.5518-11G>T (n.5518-11G>T)
c.5698-11G>T (n.5698-11G>T)
c.5632-11G>T (n.5632-11G>T)
c.5695-11G>T (n.5695-11G>T)
c.5692-11G>T (n.5692-11G>T)
c.5638-11G>T (n.5638-11G>T)
c.5563-11G>T (n.5563-11G>T)
c.5158-11G>T (n.5158-11G>T)
c.4516-11G>T (n.4516-11G>T)
c.2026-11G>T (n.2026-11G>T)
n.5941-11G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71784881A=CA1630848346CDH23c.5503-10A= (n.5503-10A=)
c.5518-10A= (n.5518-10A=)
c.5698-10A= (n.5698-10A=)
c.5632-10A= (n.5632-10A=)
c.5695-10A= (n.5695-10A=)
c.5692-10A= (n.5692-10A=)
c.5638-10A= (n.5638-10A=)
c.5563-10A= (n.5563-10A=)
c.5158-10A= (n.5158-10A=)
c.4516-10A= (n.4516-10A=)
c.2026-10A= (n.2026-10A=)
n.5941-10A=
10g.71784881A>CCA2580947116CDH23c.5503-10A>C (n.5503-10A>C)
c.5518-10A>C (n.5518-10A>C)
c.5698-10A>C (n.5698-10A>C)
c.5632-10A>C (n.5632-10A>C)
c.5695-10A>C (n.5695-10A>C)
c.5692-10A>C (n.5692-10A>C)
c.5638-10A>C (n.5638-10A>C)
c.5563-10A>C (n.5563-10A>C)
c.5158-10A>C (n.5158-10A>C)
c.4516-10A>C (n.4516-10A>C)
c.2026-10A>C (n.2026-10A>C)
n.5941-10A>C
10g.71784881A>GCA137493CDH23c.5503-10A>G (n.5503-10A>G)
c.5518-10A>G (n.5518-10A>G)
c.5698-10A>G (n.5698-10A>G)
c.5632-10A>G (n.5632-10A>G)
c.5695-10A>G (n.5695-10A>G)
c.5692-10A>G (n.5692-10A>G)
c.5638-10A>G (n.5638-10A>G)
c.5563-10A>G (n.5563-10A>G)
c.5158-10A>G (n.5158-10A>G)
c.4516-10A>G (n.4516-10A>G)
c.2026-10A>G (n.2026-10A>G)
n.5941-10A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784881A>TCA2580947117CDH23c.5503-10A>T (n.5503-10A>T)
c.5518-10A>T (n.5518-10A>T)
c.5698-10A>T (n.5698-10A>T)
c.5632-10A>T (n.5632-10A>T)
c.5695-10A>T (n.5695-10A>T)
c.5692-10A>T (n.5692-10A>T)
c.5638-10A>T (n.5638-10A>T)
c.5563-10A>T (n.5563-10A>T)
c.5158-10A>T (n.5158-10A>T)
c.4516-10A>T (n.4516-10A>T)
c.2026-10A>T (n.2026-10A>T)
n.5941-10A>T
10g.71784882C>ACA1918861975CDH23c.5503-9C>A (n.5503-9C>A)
c.5518-9C>A (n.5518-9C>A)
c.5698-9C>A (n.5698-9C>A)
c.5632-9C>A (n.5632-9C>A)
c.5695-9C>A (n.5695-9C>A)
c.5692-9C>A (n.5692-9C>A)
c.5638-9C>A (n.5638-9C>A)
c.5563-9C>A (n.5563-9C>A)
c.5158-9C>A (n.5158-9C>A)
c.4516-9C>A (n.4516-9C>A)
c.2026-9C>A (n.2026-9C>A)
n.5941-9C>A
 dbSNP
10g.71784882C=CA1918861973CDH23c.5503-9C= (n.5503-9C=)
c.5518-9C= (n.5518-9C=)
c.5698-9C= (n.5698-9C=)
c.5632-9C= (n.5632-9C=)
c.5695-9C= (n.5695-9C=)
c.5692-9C= (n.5692-9C=)
c.5638-9C= (n.5638-9C=)
c.5563-9C= (n.5563-9C=)
c.5158-9C= (n.5158-9C=)
c.4516-9C= (n.4516-9C=)
c.2026-9C= (n.2026-9C=)
n.5941-9C=
10g.71784882C>TCA2574578097CDH23c.5503-9C>T (n.5503-9C>T)
c.5518-9C>T (n.5518-9C>T)
c.5698-9C>T (n.5698-9C>T)
c.5632-9C>T (n.5632-9C>T)
c.5695-9C>T (n.5695-9C>T)
c.5692-9C>T (n.5692-9C>T)
c.5638-9C>T (n.5638-9C>T)
c.5563-9C>T (n.5563-9C>T)
c.5158-9C>T (n.5158-9C>T)
c.4516-9C>T (n.4516-9C>T)
c.2026-9C>T (n.2026-9C>T)
n.5941-9C>T
10g.71784884G>ACA2722284777CDH23c.5503-7G>A (n.5503-7G>A)
c.5518-7G>A (n.5518-7G>A)
c.5698-7G>A (n.5698-7G>A)
c.5632-7G>A (n.5632-7G>A)
c.5695-7G>A (n.5695-7G>A)
c.5692-7G>A (n.5692-7G>A)
c.5638-7G>A (n.5638-7G>A)
c.5563-7G>A (n.5563-7G>A)
c.5158-7G>A (n.5158-7G>A)
c.4516-7G>A (n.4516-7G>A)
c.2026-7G>A (n.2026-7G>A)
n.5941-7G>A
 dbSNP
10g.71784886C=CA1918861978CDH23c.5503-5C= (n.5503-5C=)
c.5518-5C= (n.5518-5C=)
c.5698-5C= (n.5698-5C=)
c.5632-5C= (n.5632-5C=)
c.5695-5C= (n.5695-5C=)
c.5692-5C= (n.5692-5C=)
c.5638-5C= (n.5638-5C=)
c.5563-5C= (n.5563-5C=)
c.5158-5C= (n.5158-5C=)
c.4516-5C= (n.4516-5C=)
c.2026-5C= (n.2026-5C=)
n.5941-5C=
10g.71784886C>TCA5545798CDH23c.5503-5C>T (n.5503-5C>T)
c.5518-5C>T (n.5518-5C>T)
c.5698-5C>T (n.5698-5C>T)
c.5632-5C>T (n.5632-5C>T)
c.5695-5C>T (n.5695-5C>T)
c.5692-5C>T (n.5692-5C>T)
c.5638-5C>T (n.5638-5C>T)
c.5563-5C>T (n.5563-5C>T)
c.5158-5C>T (n.5158-5C>T)
c.4516-5C>T (n.4516-5C>T)
c.2026-5C>T (n.2026-5C>T)
n.5941-5C>T
 ClinVar dbSNP ExAC gnomAD v4
10g.71784888C>ACA668097743CDH23c.5503-3C>A (n.5503-3C>A)
c.5518-3C>A (n.5518-3C>A)
c.5698-3C>A (n.5698-3C>A)
c.5632-3C>A (n.5632-3C>A)
c.5695-3C>A (n.5695-3C>A)
c.5692-3C>A (n.5692-3C>A)
c.5638-3C>A (n.5638-3C>A)
c.5563-3C>A (n.5563-3C>A)
c.5158-3C>A (n.5158-3C>A)
c.4516-3C>A (n.4516-3C>A)
c.2026-3C>A (n.2026-3C>A)
n.5941-3C>A
 dbSNP gnomAD v3 gnomAD v4
10g.71784888C=CA1918861982CDH23c.5503-3C= (n.5503-3C=)
c.5518-3C= (n.5518-3C=)
c.5698-3C= (n.5698-3C=)
c.5632-3C= (n.5632-3C=)
c.5695-3C= (n.5695-3C=)
c.5692-3C= (n.5692-3C=)
c.5638-3C= (n.5638-3C=)
c.5563-3C= (n.5563-3C=)
c.5158-3C= (n.5158-3C=)
c.4516-3C= (n.4516-3C=)
c.2026-3C= (n.2026-3C=)
n.5941-3C=
10g.71784889A>CCA377146181CDH23c.5503-2A>C (n.5503-2A>C)
c.5518-2A>C (n.5518-2A>C)
c.5698-2A>C (n.5698-2A>C)
c.5632-2A>C (n.5632-2A>C)
c.5695-2A>C (n.5695-2A>C)
c.5692-2A>C (n.5692-2A>C)
c.5638-2A>C (n.5638-2A>C)
c.5563-2A>C (n.5563-2A>C)
c.5158-2A>C (n.5158-2A>C)
c.4516-2A>C (n.4516-2A>C)
c.2026-2A>C (n.2026-2A>C)
n.5941-2A>C
10g.71784889A>GCA377146184CDH23c.5503-2A>G (n.5503-2A>G)
c.5518-2A>G (n.5518-2A>G)
c.5698-2A>G (n.5698-2A>G)
c.5632-2A>G (n.5632-2A>G)
c.5695-2A>G (n.5695-2A>G)
c.5692-2A>G (n.5692-2A>G)
c.5638-2A>G (n.5638-2A>G)
c.5563-2A>G (n.5563-2A>G)
c.5158-2A>G (n.5158-2A>G)
c.4516-2A>G (n.4516-2A>G)
c.2026-2A>G (n.2026-2A>G)
n.5941-2A>G
 ClinVar dbSNP
10g.71784889A>TCA377146189CDH23c.5503-2A>T (n.5503-2A>T)
c.5518-2A>T (n.5518-2A>T)
c.5698-2A>T (n.5698-2A>T)
c.5632-2A>T (n.5632-2A>T)
c.5695-2A>T (n.5695-2A>T)
c.5692-2A>T (n.5692-2A>T)
c.5638-2A>T (n.5638-2A>T)
c.5563-2A>T (n.5563-2A>T)
c.5158-2A>T (n.5158-2A>T)
c.4516-2A>T (n.4516-2A>T)
c.2026-2A>T (n.2026-2A>T)
n.5941-2A>T
10g.71784890G>ACA377146190CDH23c.5503-1G>A (n.5503-1G>A)
c.5518-1G>A (n.5518-1G>A)
c.5698-1G>A (n.5698-1G>A)
c.5632-1G>A (n.5632-1G>A)
c.5695-1G>A (n.5695-1G>A)
c.5692-1G>A (n.5692-1G>A)
c.5638-1G>A (n.5638-1G>A)
c.5563-1G>A (n.5563-1G>A)
c.5158-1G>A (n.5158-1G>A)
c.4516-1G>A (n.4516-1G>A)
c.2026-1G>A (n.2026-1G>A)
n.5941-1G>A
 gnomAD v4
10g.71784890G>CCA377146191CDH23c.5503-1G>C (n.5503-1G>C)
c.5518-1G>C (n.5518-1G>C)
c.5698-1G>C (n.5698-1G>C)
c.5632-1G>C (n.5632-1G>C)
c.5695-1G>C (n.5695-1G>C)
c.5692-1G>C (n.5692-1G>C)
c.5638-1G>C (n.5638-1G>C)
c.5563-1G>C (n.5563-1G>C)
c.5158-1G>C (n.5158-1G>C)
c.4516-1G>C (n.4516-1G>C)
c.2026-1G>C (n.2026-1G>C)
n.5941-1G>C
10g.71784890G>TCA377146192CDH23c.5503-1G>T (n.5503-1G>T)
c.5518-1G>T (n.5518-1G>T)
c.5698-1G>T (n.5698-1G>T)
c.5632-1G>T (n.5632-1G>T)
c.5695-1G>T (n.5695-1G>T)
c.5692-1G>T (n.5692-1G>T)
c.5638-1G>T (n.5638-1G>T)
c.5563-1G>T (n.5563-1G>T)
c.5158-1G>T (n.5158-1G>T)
c.4516-1G>T (n.4516-1G>T)
c.2026-1G>T (n.2026-1G>T)
n.5941-1G>T
 ClinVar
10g.71784891A>CCA377146193CDH23c.5503A>C (p.Met1835Leu)
c.5518A>C (p.Met1840Leu)
c.5698A>C (p.Met1900Leu)
c.5632A>C (p.Met1878Leu)
c.5695A>C (p.Met1899Leu)
c.5692A>C (p.Met1898Leu)
c.5638A>C (p.Met1880Leu)
c.5563A>C (p.Met1855Leu)
c.5158A>C (p.Met1720Leu)
c.4516A>C (p.Met1506Leu)
c.2026A>C (p.Met676Leu)
n.5941A>C
10g.71784891A>GCA377146196CDH23c.5503A>G (p.Met1835Val)
c.5518A>G (p.Met1840Val)
c.5698A>G (p.Met1900Val)
c.5632A>G (p.Met1878Val)
c.5695A>G (p.Met1899Val)
c.5692A>G (p.Met1898Val)
c.5638A>G (p.Met1880Val)
c.5563A>G (p.Met1855Val)
c.5158A>G (p.Met1720Val)
c.4516A>G (p.Met1506Val)
c.2026A>G (p.Met676Val)
n.5941A>G
10g.71784891A>TCA377146198CDH23c.5503A>T (p.Met1835Leu)
c.5518A>T (p.Met1840Leu)
c.5698A>T (p.Met1900Leu)
c.5632A>T (p.Met1878Leu)
c.5695A>T (p.Met1899Leu)
c.5692A>T (p.Met1898Leu)
c.5638A>T (p.Met1880Leu)
c.5563A>T (p.Met1855Leu)
c.5158A>T (p.Met1720Leu)
c.4516A>T (p.Met1506Leu)
c.2026A>T (p.Met676Leu)
n.5941A>T
 gnomAD v4
10g.71784892T>ACA377146215CDH23c.5504T>A (p.Met1835Lys)
c.5519T>A (p.Met1840Lys)
c.5699T>A (p.Met1900Lys)
c.5633T>A (p.Met1878Lys)
c.5696T>A (p.Met1899Lys)
c.5693T>A (p.Met1898Lys)
c.5639T>A (p.Met1880Lys)
c.5564T>A (p.Met1855Lys)
c.5159T>A (p.Met1720Lys)
c.4517T>A (p.Met1506Lys)
c.2027T>A (p.Met676Lys)
n.5942T>A
10g.71784892T>CCA377146206CDH23c.5504T>C (p.Met1835Thr)
c.5519T>C (p.Met1840Thr)
c.5699T>C (p.Met1900Thr)
c.5633T>C (p.Met1878Thr)
c.5696T>C (p.Met1899Thr)
c.5693T>C (p.Met1898Thr)
c.5639T>C (p.Met1880Thr)
c.5564T>C (p.Met1855Thr)
c.5159T>C (p.Met1720Thr)
c.4517T>C (p.Met1506Thr)
c.2027T>C (p.Met676Thr)
n.5942T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71784892T>GCA377146209CDH23c.5504T>G (p.Met1835Arg)
c.5519T>G (p.Met1840Arg)
c.5699T>G (p.Met1900Arg)
c.5633T>G (p.Met1878Arg)
c.5696T>G (p.Met1899Arg)
c.5693T>G (p.Met1898Arg)
c.5639T>G (p.Met1880Arg)
c.5564T>G (p.Met1855Arg)
c.5159T>G (p.Met1720Arg)
c.4517T>G (p.Met1506Arg)
c.2027T>G (p.Met676Arg)
n.5942T>G
10g.71784892T=CA1918861995CDH23c.5504T= (p.Met1835=)
c.5519T= (p.Met1840=)
c.5699T= (p.Met1900=)
c.5633T= (p.Met1878=)
c.5696T= (p.Met1899=)
c.5693T= (p.Met1898=)
c.5639T= (p.Met1880=)
c.5564T= (p.Met1855=)
c.5159T= (p.Met1720=)
c.4517T= (p.Met1506=)
c.2027T= (p.Met676=)
n.5942T=
10g.71784893G>ACA137494CDH23c.5505G>A (p.Met1835Ile)
c.5520G>A (p.Met1840Ile)
c.5700G>A (p.Met1900Ile)
c.5634G>A (p.Met1878Ile)
c.5697G>A (p.Met1899Ile)
c.5694G>A (p.Met1898Ile)
c.5640G>A (p.Met1880Ile)
c.5565G>A (p.Met1855Ile)
c.5160G>A (p.Met1720Ile)
c.4518G>A (p.Met1506Ile)
c.2028G>A (p.Met676Ile)
n.5943G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784893G>CCA377146218CDH23c.5505G>C (p.Met1835Ile)
c.5520G>C (p.Met1840Ile)
c.5700G>C (p.Met1900Ile)
c.5634G>C (p.Met1878Ile)
c.5697G>C (p.Met1899Ile)
c.5694G>C (p.Met1898Ile)
c.5640G>C (p.Met1880Ile)
c.5565G>C (p.Met1855Ile)
c.5160G>C (p.Met1720Ile)
c.4518G>C (p.Met1506Ile)
c.2028G>C (p.Met676Ile)
n.5943G>C
10g.71784893G=CA1918862000CDH23c.5505G= (p.Met1835=)
c.5520G= (p.Met1840=)
c.5700G= (p.Met1900=)
c.5634G= (p.Met1878=)
c.5697G= (p.Met1899=)
c.5694G= (p.Met1898=)
c.5640G= (p.Met1880=)
c.5565G= (p.Met1855=)
c.5160G= (p.Met1720=)
c.4518G= (p.Met1506=)
c.2028G= (p.Met676=)
n.5943G=
10g.71784893G>TCA377146225CDH23c.5505G>T (p.Met1835Ile)
c.5520G>T (p.Met1840Ile)
c.5700G>T (p.Met1900Ile)
c.5634G>T (p.Met1878Ile)
c.5697G>T (p.Met1899Ile)
c.5694G>T (p.Met1898Ile)
c.5640G>T (p.Met1880Ile)
c.5565G>T (p.Met1855Ile)
c.5160G>T (p.Met1720Ile)
c.4518G>T (p.Met1506Ile)
c.2028G>T (p.Met676Ile)
n.5943G>T
10g.71784894C>ACA377146229CDH23c.5506C>A (p.Leu1836Met)
c.5521C>A (p.Leu1841Met)
c.5701C>A (p.Leu1901Met)
c.5635C>A (p.Leu1879Met)
c.5698C>A (p.Leu1900Met)
c.5695C>A (p.Leu1899Met)
c.5641C>A (p.Leu1881Met)
c.5566C>A (p.Leu1856Met)
c.5161C>A (p.Leu1721Met)
c.4519C>A (p.Leu1507Met)
c.2029C>A (p.Leu677Met)
n.5944C>A
10g.71784894C>GCA377146231CDH23c.5506C>G (p.Leu1836Val)
c.5521C>G (p.Leu1841Val)
c.5701C>G (p.Leu1901Val)
c.5635C>G (p.Leu1879Val)
c.5698C>G (p.Leu1900Val)
c.5695C>G (p.Leu1899Val)
c.5641C>G (p.Leu1881Val)
c.5566C>G (p.Leu1856Val)
c.5161C>G (p.Leu1721Val)
c.4519C>G (p.Leu1507Val)
c.2029C>G (p.Leu677Val)
n.5944C>G
 ClinVar dbSNP gnomAD v4
10g.71784894C>TCA470060681CDH23c.5506C>T (p.Leu1836=)
c.5521C>T (p.Leu1841=)
c.5701C>T (p.Leu1901=)
c.5635C>T (p.Leu1879=)
c.5698C>T (p.Leu1900=)
c.5695C>T (p.Leu1899=)
c.5641C>T (p.Leu1881=)
c.5566C>T (p.Leu1856=)
c.5161C>T (p.Leu1721=)
c.4519C>T (p.Leu1507=)
c.2029C>T (p.Leu677=)
n.5944C>T
 ClinVar
10g.71784895T>ACA377146233CDH23c.5507T>A (p.Leu1836Gln)
c.5522T>A (p.Leu1841Gln)
c.5702T>A (p.Leu1901Gln)
c.5636T>A (p.Leu1879Gln)
c.5699T>A (p.Leu1900Gln)
c.5696T>A (p.Leu1899Gln)
c.5642T>A (p.Leu1881Gln)
c.5567T>A (p.Leu1856Gln)
c.5162T>A (p.Leu1721Gln)
c.4520T>A (p.Leu1507Gln)
c.2030T>A (p.Leu677Gln)
n.5945T>A
10g.71784895T>CCA377146235CDH23c.5507T>C (p.Leu1836Pro)
c.5522T>C (p.Leu1841Pro)
c.5702T>C (p.Leu1901Pro)
c.5636T>C (p.Leu1879Pro)
c.5699T>C (p.Leu1900Pro)
c.5696T>C (p.Leu1899Pro)
c.5642T>C (p.Leu1881Pro)
c.5567T>C (p.Leu1856Pro)
c.5162T>C (p.Leu1721Pro)
c.4520T>C (p.Leu1507Pro)
c.2030T>C (p.Leu677Pro)
n.5945T>C
10g.71784895T>GCA377146237CDH23c.5507T>G (p.Leu1836Arg)
c.5522T>G (p.Leu1841Arg)
c.5702T>G (p.Leu1901Arg)
c.5636T>G (p.Leu1879Arg)
c.5699T>G (p.Leu1900Arg)
c.5696T>G (p.Leu1899Arg)
c.5642T>G (p.Leu1881Arg)
c.5567T>G (p.Leu1856Arg)
c.5162T>G (p.Leu1721Arg)
c.4520T>G (p.Leu1507Arg)
c.2030T>G (p.Leu677Arg)
n.5945T>G
10g.71784896G>ACA470060682CDH23c.5508G>A (p.Leu1836=)
c.5523G>A (p.Leu1841=)
c.5703G>A (p.Leu1901=)
c.5637G>A (p.Leu1879=)
c.5700G>A (p.Leu1900=)
c.5697G>A (p.Leu1899=)
c.5643G>A (p.Leu1881=)
c.5568G>A (p.Leu1856=)
c.5163G>A (p.Leu1721=)
c.4521G>A (p.Leu1507=)
c.2031G>A (p.Leu677=)
n.5946G>A
 ClinVar dbSNP
10g.71784896G>CCA470060683CDH23c.5508G>C (p.Leu1836=)
c.5523G>C (p.Leu1841=)
c.5703G>C (p.Leu1901=)
c.5637G>C (p.Leu1879=)
c.5700G>C (p.Leu1900=)
c.5697G>C (p.Leu1899=)
c.5643G>C (p.Leu1881=)
c.5568G>C (p.Leu1856=)
c.5163G>C (p.Leu1721=)
c.4521G>C (p.Leu1507=)
c.2031G>C (p.Leu677=)
n.5946G>C
10g.71784896G=CA1918862010CDH23c.5508G= (p.Leu1836=)
c.5523G= (p.Leu1841=)
c.5703G= (p.Leu1901=)
c.5637G= (p.Leu1879=)
c.5700G= (p.Leu1900=)
c.5697G= (p.Leu1899=)
c.5643G= (p.Leu1881=)
c.5568G= (p.Leu1856=)
c.5163G= (p.Leu1721=)
c.4521G= (p.Leu1507=)
c.2031G= (p.Leu677=)
n.5946G=
10g.71784896G>TCA5545799CDH23c.5508G>T (p.Leu1836=)
c.5523G>T (p.Leu1841=)
c.5703G>T (p.Leu1901=)
c.5637G>T (p.Leu1879=)
c.5700G>T (p.Leu1900=)
c.5697G>T (p.Leu1899=)
c.5643G>T (p.Leu1881=)
c.5568G>T (p.Leu1856=)
c.5163G>T (p.Leu1721=)
c.4521G>T (p.Leu1507=)
c.2031G>T (p.Leu677=)
n.5946G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784897G>ACA377146244CDH23c.5509G>A (p.Val1837Met)
c.5524G>A (p.Val1842Met)
c.5704G>A (p.Val1902Met)
c.5638G>A (p.Val1880Met)
c.5701G>A (p.Val1901Met)
c.5698G>A (p.Val1900Met)
c.5644G>A (p.Val1882Met)
c.5569G>A (p.Val1857Met)
c.5164G>A (p.Val1722Met)
c.4522G>A (p.Val1508Met)
c.2032G>A (p.Val678Met)
n.5947G>A
 dbSNP gnomAD v4
10g.71784897G>CCA377146245CDH23c.5509G>C (p.Val1837Leu)
c.5524G>C (p.Val1842Leu)
c.5704G>C (p.Val1902Leu)
c.5638G>C (p.Val1880Leu)
c.5701G>C (p.Val1901Leu)
c.5698G>C (p.Val1900Leu)
c.5644G>C (p.Val1882Leu)
c.5569G>C (p.Val1857Leu)
c.5164G>C (p.Val1722Leu)
c.4522G>C (p.Val1508Leu)
c.2032G>C (p.Val678Leu)
n.5947G>C
10g.71784897G=CA1918862017CDH23c.5509G= (p.Val1837=)
c.5524G= (p.Val1842=)
c.5704G= (p.Val1902=)
c.5638G= (p.Val1880=)
c.5701G= (p.Val1901=)
c.5698G= (p.Val1900=)
c.5644G= (p.Val1882=)
c.5569G= (p.Val1857=)
c.5164G= (p.Val1722=)
c.4522G= (p.Val1508=)
c.2032G= (p.Val678=)
n.5947G=
10g.71784897G>TCA377146247CDH23c.5509G>T (p.Val1837Leu)
c.5524G>T (p.Val1842Leu)
c.5704G>T (p.Val1902Leu)
c.5638G>T (p.Val1880Leu)
c.5701G>T (p.Val1901Leu)
c.5698G>T (p.Val1900Leu)
c.5644G>T (p.Val1882Leu)
c.5569G>T (p.Val1857Leu)
c.5164G>T (p.Val1722Leu)
c.4522G>T (p.Val1508Leu)
c.2032G>T (p.Val678Leu)
n.5947G>T
10g.71784898T>ACA377146248CDH23c.5510T>A (p.Val1837Glu)
c.5525T>A (p.Val1842Glu)
c.5705T>A (p.Val1902Glu)
c.5639T>A (p.Val1880Glu)
c.5702T>A (p.Val1901Glu)
c.5699T>A (p.Val1900Glu)
c.5645T>A (p.Val1882Glu)
c.5570T>A (p.Val1857Glu)
c.5165T>A (p.Val1722Glu)
c.4523T>A (p.Val1508Glu)
c.2033T>A (p.Val678Glu)
n.5948T>A
10g.71784898T>CCA5545800CDH23c.5510T>C (p.Val1837Ala)
c.5525T>C (p.Val1842Ala)
c.5705T>C (p.Val1902Ala)
c.5639T>C (p.Val1880Ala)
c.5702T>C (p.Val1901Ala)
c.5699T>C (p.Val1900Ala)
c.5645T>C (p.Val1882Ala)
c.5570T>C (p.Val1857Ala)
c.5165T>C (p.Val1722Ala)
c.4523T>C (p.Val1508Ala)
c.2033T>C (p.Val678Ala)
n.5948T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784898T>GCA377146249CDH23c.5510T>G (p.Val1837Gly)
c.5525T>G (p.Val1842Gly)
c.5705T>G (p.Val1902Gly)
c.5639T>G (p.Val1880Gly)
c.5702T>G (p.Val1901Gly)
c.5699T>G (p.Val1900Gly)
c.5645T>G (p.Val1882Gly)
c.5570T>G (p.Val1857Gly)
c.5165T>G (p.Val1722Gly)
c.4523T>G (p.Val1508Gly)
c.2033T>G (p.Val678Gly)
n.5948T>G
10g.71784898T=CA1918862021CDH23c.5510T= (p.Val1837=)
c.5525T= (p.Val1842=)
c.5705T= (p.Val1902=)
c.5639T= (p.Val1880=)
c.5702T= (p.Val1901=)
c.5699T= (p.Val1900=)
c.5645T= (p.Val1882=)
c.5570T= (p.Val1857=)
c.5165T= (p.Val1722=)
c.4523T= (p.Val1508=)
c.2033T= (p.Val678=)
n.5948T=
10g.71784899G>ACA470060686CDH23c.5511G>A (p.Val1837=)
c.5526G>A (p.Val1842=)
c.5706G>A (p.Val1902=)
c.5640G>A (p.Val1880=)
c.5703G>A (p.Val1901=)
c.5700G>A (p.Val1900=)
c.5646G>A (p.Val1882=)
c.5571G>A (p.Val1857=)
c.5166G>A (p.Val1722=)
c.4524G>A (p.Val1508=)
c.2034G>A (p.Val678=)
n.5949G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71784899G>CCA470060685CDH23c.5511G>C (p.Val1837=)
c.5526G>C (p.Val1842=)
c.5706G>C (p.Val1902=)
c.5640G>C (p.Val1880=)
c.5703G>C (p.Val1901=)
c.5700G>C (p.Val1900=)
c.5646G>C (p.Val1882=)
c.5571G>C (p.Val1857=)
c.5166G>C (p.Val1722=)
c.4524G>C (p.Val1508=)
c.2034G>C (p.Val678=)
n.5949G>C
10g.71784899G=CA1918862028CDH23c.5511G= (p.Val1837=)
c.5526G= (p.Val1842=)
c.5706G= (p.Val1902=)
c.5640G= (p.Val1880=)
c.5703G= (p.Val1901=)
c.5700G= (p.Val1900=)
c.5646G= (p.Val1882=)
c.5571G= (p.Val1857=)
c.5166G= (p.Val1722=)
c.4524G= (p.Val1508=)
c.2034G= (p.Val678=)
n.5949G=
10g.71784899G>TCA470060684CDH23c.5511G>T (p.Val1837=)
c.5526G>T (p.Val1842=)
c.5706G>T (p.Val1902=)
c.5640G>T (p.Val1880=)
c.5703G>T (p.Val1901=)
c.5700G>T (p.Val1900=)
c.5646G>T (p.Val1882=)
c.5571G>T (p.Val1857=)
c.5166G>T (p.Val1722=)
c.4524G>T (p.Val1508=)
c.2034G>T (p.Val678=)
n.5949G>T
10g.71784900G>ACA377146251CDH23c.5512G>A (p.Gly1838Arg)
c.5527G>A (p.Gly1843Arg)
c.5707G>A (p.Gly1903Arg)
c.5641G>A (p.Gly1881Arg)
c.5704G>A (p.Gly1902Arg)
c.5701G>A (p.Gly1901Arg)
c.5647G>A (p.Gly1883Arg)
c.5572G>A (p.Gly1858Arg)
c.5167G>A (p.Gly1723Arg)
c.4525G>A (p.Gly1509Arg)
c.2035G>A (p.Gly679Arg)
n.5950G>A
 gnomAD v4
10g.71784900G>CCA377146253CDH23c.5512G>C (p.Gly1838Arg)
c.5527G>C (p.Gly1843Arg)
c.5707G>C (p.Gly1903Arg)
c.5641G>C (p.Gly1881Arg)
c.5704G>C (p.Gly1902Arg)
c.5701G>C (p.Gly1901Arg)
c.5647G>C (p.Gly1883Arg)
c.5572G>C (p.Gly1858Arg)
c.5167G>C (p.Gly1723Arg)
c.4525G>C (p.Gly1509Arg)
c.2035G>C (p.Gly679Arg)
n.5950G>C
10g.71784900G>TCA377146252CDH23c.5512G>T (p.Gly1838Trp)
c.5527G>T (p.Gly1843Trp)
c.5707G>T (p.Gly1903Trp)
c.5641G>T (p.Gly1881Trp)
c.5704G>T (p.Gly1902Trp)
c.5701G>T (p.Gly1901Trp)
c.5647G>T (p.Gly1883Trp)
c.5572G>T (p.Gly1858Trp)
c.5167G>T (p.Gly1723Trp)
c.4525G>T (p.Gly1509Trp)
c.2035G>T (p.Gly679Trp)
n.5950G>T
10g.71784901G>ACA377146258CDH23c.5513G>A (p.Gly1838Glu)
c.5528G>A (p.Gly1843Glu)
c.5708G>A (p.Gly1903Glu)
c.5642G>A (p.Gly1881Glu)
c.5705G>A (p.Gly1902Glu)
c.5702G>A (p.Gly1901Glu)
c.5648G>A (p.Gly1883Glu)
c.5573G>A (p.Gly1858Glu)
c.5168G>A (p.Gly1723Glu)
c.4526G>A (p.Gly1509Glu)
c.2036G>A (p.Gly679Glu)
n.5951G>A
10g.71784901G>CCA377146263CDH23c.5513G>C (p.Gly1838Ala)
c.5528G>C (p.Gly1843Ala)
c.5708G>C (p.Gly1903Ala)
c.5642G>C (p.Gly1881Ala)
c.5705G>C (p.Gly1902Ala)
c.5702G>C (p.Gly1901Ala)
c.5648G>C (p.Gly1883Ala)
c.5573G>C (p.Gly1858Ala)
c.5168G>C (p.Gly1723Ala)
c.4526G>C (p.Gly1509Ala)
c.2036G>C (p.Gly679Ala)
n.5951G>C
10g.71784901G>TCA377146259CDH23c.5513G>T (p.Gly1838Val)
c.5528G>T (p.Gly1843Val)
c.5708G>T (p.Gly1903Val)
c.5642G>T (p.Gly1881Val)
c.5705G>T (p.Gly1902Val)
c.5702G>T (p.Gly1901Val)
c.5648G>T (p.Gly1883Val)
c.5573G>T (p.Gly1858Val)
c.5168G>T (p.Gly1723Val)
c.4526G>T (p.Gly1509Val)
c.2036G>T (p.Gly679Val)
n.5951G>T
10g.71784902G>ACA470060689CDH23c.5514G>A (p.Gly1838=)
c.5529G>A (p.Gly1843=)
c.5709G>A (p.Gly1903=)
c.5643G>A (p.Gly1881=)
c.5706G>A (p.Gly1902=)
c.5703G>A (p.Gly1901=)
c.5649G>A (p.Gly1883=)
c.5574G>A (p.Gly1858=)
c.5169G>A (p.Gly1723=)
c.4527G>A (p.Gly1509=)
c.2037G>A (p.Gly679=)
n.5952G>A
10g.71784902G>CCA470060688CDH23c.5514G>C (p.Gly1838=)
c.5529G>C (p.Gly1843=)
c.5709G>C (p.Gly1903=)
c.5643G>C (p.Gly1881=)
c.5706G>C (p.Gly1902=)
c.5703G>C (p.Gly1901=)
c.5649G>C (p.Gly1883=)
c.5574G>C (p.Gly1858=)
c.5169G>C (p.Gly1723=)
c.4527G>C (p.Gly1509=)
c.2037G>C (p.Gly679=)
n.5952G>C
 dbSNP
10g.71784902G>TCA470060687CDH23c.5514G>T (p.Gly1838=)
c.5529G>T (p.Gly1843=)
c.5709G>T (p.Gly1903=)
c.5643G>T (p.Gly1881=)
c.5706G>T (p.Gly1902=)
c.5703G>T (p.Gly1901=)
c.5649G>T (p.Gly1883=)
c.5574G>T (p.Gly1858=)
c.5169G>T (p.Gly1723=)
c.4527G>T (p.Gly1509=)
c.2037G>T (p.Gly679=)
n.5952G>T
10g.71784903A=CA1918862037CDH23c.5515A= (p.Ile1839=)
c.5530A= (p.Ile1844=)
c.5710A= (p.Ile1904=)
c.5644A= (p.Ile1882=)
c.5707A= (p.Ile1903=)
c.5704A= (p.Ile1902=)
c.5650A= (p.Ile1884=)
c.5575A= (p.Ile1859=)
c.5170A= (p.Ile1724=)
c.4528A= (p.Ile1510=)
c.2038A= (p.Ile680=)
n.5953A=
10g.71784903A>CCA377146267CDH23c.5515A>C (p.Ile1839Leu)
c.5530A>C (p.Ile1844Leu)
c.5710A>C (p.Ile1904Leu)
c.5644A>C (p.Ile1882Leu)
c.5707A>C (p.Ile1903Leu)
c.5704A>C (p.Ile1902Leu)
c.5650A>C (p.Ile1884Leu)
c.5575A>C (p.Ile1859Leu)
c.5170A>C (p.Ile1724Leu)
c.4528A>C (p.Ile1510Leu)
c.2038A>C (p.Ile680Leu)
n.5953A>C
10g.71784903A>GCA377146276CDH23c.5515A>G (p.Ile1839Val)
c.5530A>G (p.Ile1844Val)
c.5710A>G (p.Ile1904Val)
c.5644A>G (p.Ile1882Val)
c.5707A>G (p.Ile1903Val)
c.5704A>G (p.Ile1902Val)
c.5650A>G (p.Ile1884Val)
c.5575A>G (p.Ile1859Val)
c.5170A>G (p.Ile1724Val)
c.4528A>G (p.Ile1510Val)
c.2038A>G (p.Ile680Val)
n.5953A>G
10g.71784903A>TCA5545801CDH23c.5515A>T (p.Ile1839Phe)
c.5530A>T (p.Ile1844Phe)
c.5710A>T (p.Ile1904Phe)
c.5644A>T (p.Ile1882Phe)
c.5707A>T (p.Ile1903Phe)
c.5704A>T (p.Ile1902Phe)
c.5650A>T (p.Ile1884Phe)
c.5575A>T (p.Ile1859Phe)
c.5170A>T (p.Ile1724Phe)
c.4528A>T (p.Ile1510Phe)
c.2038A>T (p.Ile680Phe)
n.5953A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784904T>ACA377146279CDH23c.5516T>A (p.Ile1839Asn)
c.5531T>A (p.Ile1844Asn)
c.5711T>A (p.Ile1904Asn)
c.5645T>A (p.Ile1882Asn)
c.5708T>A (p.Ile1903Asn)
c.5705T>A (p.Ile1902Asn)
c.5651T>A (p.Ile1884Asn)
c.5576T>A (p.Ile1859Asn)
c.5171T>A (p.Ile1724Asn)
c.4529T>A (p.Ile1510Asn)
c.2039T>A (p.Ile680Asn)
n.5954T>A
10g.71784904T>CCA377146288CDH23c.5516T>C (p.Ile1839Thr)
c.5531T>C (p.Ile1844Thr)
c.5711T>C (p.Ile1904Thr)
c.5645T>C (p.Ile1882Thr)
c.5708T>C (p.Ile1903Thr)
c.5705T>C (p.Ile1902Thr)
c.5651T>C (p.Ile1884Thr)
c.5576T>C (p.Ile1859Thr)
c.5171T>C (p.Ile1724Thr)
c.4529T>C (p.Ile1510Thr)
c.2039T>C (p.Ile680Thr)
n.5954T>C
10g.71784904T>GCA377146282CDH23c.5516T>G (p.Ile1839Ser)
c.5531T>G (p.Ile1844Ser)
c.5711T>G (p.Ile1904Ser)
c.5645T>G (p.Ile1882Ser)
c.5708T>G (p.Ile1903Ser)
c.5705T>G (p.Ile1902Ser)
c.5651T>G (p.Ile1884Ser)
c.5576T>G (p.Ile1859Ser)
c.5171T>G (p.Ile1724Ser)
c.4529T>G (p.Ile1510Ser)
c.2039T>G (p.Ile680Ser)
n.5954T>G
10g.71784905C>ACA470060690CDH23c.5517C>A (p.Ile1839=)
c.5532C>A (p.Ile1844=)
c.5712C>A (p.Ile1904=)
c.5646C>A (p.Ile1882=)
c.5709C>A (p.Ile1903=)
c.5706C>A (p.Ile1902=)
c.5652C>A (p.Ile1884=)
c.5577C>A (p.Ile1859=)
c.5172C>A (p.Ile1724=)
c.4530C>A (p.Ile1510=)
c.2040C>A (p.Ile680=)
n.5955C>A
10g.71784905C=CA1918862040CDH23c.5517C= (p.Ile1839=)
c.5532C= (p.Ile1844=)
c.5712C= (p.Ile1904=)
c.5646C= (p.Ile1882=)
c.5709C= (p.Ile1903=)
c.5706C= (p.Ile1902=)
c.5652C= (p.Ile1884=)
c.5577C= (p.Ile1859=)
c.5172C= (p.Ile1724=)
c.4530C= (p.Ile1510=)
c.2040C= (p.Ile680=)
n.5955C=
10g.71784905C>GCA377146293CDH23c.5517C>G (p.Ile1839Met)
c.5532C>G (p.Ile1844Met)
c.5712C>G (p.Ile1904Met)
c.5646C>G (p.Ile1882Met)
c.5709C>G (p.Ile1903Met)
c.5706C>G (p.Ile1902Met)
c.5652C>G (p.Ile1884Met)
c.5577C>G (p.Ile1859Met)
c.5172C>G (p.Ile1724Met)
c.4530C>G (p.Ile1510Met)
c.2040C>G (p.Ile680Met)
n.5955C>G
 dbSNP gnomAD v4
10g.71784905C>TCA470060691CDH23c.5517C>T (p.Ile1839=)
c.5532C>T (p.Ile1844=)
c.5712C>T (p.Ile1904=)
c.5646C>T (p.Ile1882=)
c.5709C>T (p.Ile1903=)
c.5706C>T (p.Ile1902=)
c.5652C>T (p.Ile1884=)
c.5577C>T (p.Ile1859=)
c.5172C>T (p.Ile1724=)
c.4530C>T (p.Ile1510=)
c.2040C>T (p.Ile680=)
n.5955C>T
10g.71784906delCA2739275800CDH23c.5518del (p.Arg1840GlyfsTer13)
c.5533del (p.Arg1845GlyfsTer13)
c.5713del (p.Arg1905GlyfsTer13)
c.5647del (p.Arg1883GlyfsTer13)
c.5710del (p.Arg1904GlyfsTer13)
c.5707del (p.Arg1903GlyfsTer13)
c.5653del (p.Arg1885GlyfsTer13)
c.5578del (p.Arg1860GlyfsTer13)
c.5173del (p.Arg1725GlyfsTer13)
c.4531del (p.Arg1511GlyfsTer13)
c.2041del (p.Arg681GlyfsTer13)
n.5956del
 ClinVar
10g.71784906C>ACA470060692CDH23c.5518C>A (p.Arg1840=)
c.5533C>A (p.Arg1845=)
c.5713C>A (p.Arg1905=)
c.5647C>A (p.Arg1883=)
c.5710C>A (p.Arg1904=)
c.5707C>A (p.Arg1903=)
c.5653C>A (p.Arg1885=)
c.5578C>A (p.Arg1860=)
c.5173C>A (p.Arg1725=)
c.4531C>A (p.Arg1511=)
c.2041C>A (p.Arg681=)
n.5956C>A
 dbSNP
10g.71784906C=CA1918862048CDH23c.5518C= (p.Arg1840=)
c.5533C= (p.Arg1845=)
c.5713C= (p.Arg1905=)
c.5647C= (p.Arg1883=)
c.5710C= (p.Arg1904=)
c.5707C= (p.Arg1903=)
c.5653C= (p.Arg1885=)
c.5578C= (p.Arg1860=)
c.5173C= (p.Arg1725=)
c.4531C= (p.Arg1511=)
c.2041C= (p.Arg681=)
n.5956C=
10g.71784906C>GCA377146296CDH23c.5518C>G (p.Arg1840Gly)
c.5533C>G (p.Arg1845Gly)
c.5713C>G (p.Arg1905Gly)
c.5647C>G (p.Arg1883Gly)
c.5710C>G (p.Arg1904Gly)
c.5707C>G (p.Arg1903Gly)
c.5653C>G (p.Arg1885Gly)
c.5578C>G (p.Arg1860Gly)
c.5173C>G (p.Arg1725Gly)
c.4531C>G (p.Arg1511Gly)
c.2041C>G (p.Arg681Gly)
n.5956C>G
 gnomAD v4
10g.71784906C>TCA5545802CDH23c.5518C>T (p.Arg1840Trp)
c.5533C>T (p.Arg1845Trp)
c.5713C>T (p.Arg1905Trp)
c.5647C>T (p.Arg1883Trp)
c.5710C>T (p.Arg1904Trp)
c.5707C>T (p.Arg1903Trp)
c.5653C>T (p.Arg1885Trp)
c.5578C>T (p.Arg1860Trp)
c.5173C>T (p.Arg1725Trp)
c.4531C>T (p.Arg1511Trp)
c.2041C>T (p.Arg681Trp)
n.5956C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784907G>ACA5545803CDH23c.5519G>A (p.Arg1840Gln)
c.5534G>A (p.Arg1845Gln)
c.5714G>A (p.Arg1905Gln)
c.5648G>A (p.Arg1883Gln)
c.5711G>A (p.Arg1904Gln)
c.5708G>A (p.Arg1903Gln)
c.5654G>A (p.Arg1885Gln)
c.5579G>A (p.Arg1860Gln)
c.5174G>A (p.Arg1725Gln)
c.4532G>A (p.Arg1511Gln)
c.2042G>A (p.Arg681Gln)
n.5957G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784907G>CCA377146310CDH23c.5519G>C (p.Arg1840Pro)
c.5534G>C (p.Arg1845Pro)
c.5714G>C (p.Arg1905Pro)
c.5648G>C (p.Arg1883Pro)
c.5711G>C (p.Arg1904Pro)
c.5708G>C (p.Arg1903Pro)
c.5654G>C (p.Arg1885Pro)
c.5579G>C (p.Arg1860Pro)
c.5174G>C (p.Arg1725Pro)
c.4532G>C (p.Arg1511Pro)
c.2042G>C (p.Arg681Pro)
n.5957G>C
10g.71784907G=CA1918862063CDH23c.5519G= (p.Arg1840=)
c.5534G= (p.Arg1845=)
c.5714G= (p.Arg1905=)
c.5648G= (p.Arg1883=)
c.5711G= (p.Arg1904=)
c.5708G= (p.Arg1903=)
c.5654G= (p.Arg1885=)
c.5579G= (p.Arg1860=)
c.5174G= (p.Arg1725=)
c.4532G= (p.Arg1511=)
c.2042G= (p.Arg681=)
n.5957G=
10g.71784907G>TCA377146311CDH23c.5519G>T (p.Arg1840Leu)
c.5534G>T (p.Arg1845Leu)
c.5714G>T (p.Arg1905Leu)
c.5648G>T (p.Arg1883Leu)
c.5711G>T (p.Arg1904Leu)
c.5708G>T (p.Arg1903Leu)
c.5654G>T (p.Arg1885Leu)
c.5579G>T (p.Arg1860Leu)
c.5174G>T (p.Arg1725Leu)
c.4532G>T (p.Arg1511Leu)
c.2042G>T (p.Arg681Leu)
n.5957G>T
10g.71784908G>ACA470060693CDH23c.5520G>A (p.Arg1840=)
c.5535G>A (p.Arg1845=)
c.5715G>A (p.Arg1905=)
c.5649G>A (p.Arg1883=)
c.5712G>A (p.Arg1904=)
c.5709G>A (p.Arg1903=)
c.5655G>A (p.Arg1885=)
c.5580G>A (p.Arg1860=)
c.5175G>A (p.Arg1725=)
c.4533G>A (p.Arg1511=)
c.2043G>A (p.Arg681=)
n.5958G>A
10g.71784908G>CCA470060694CDH23c.5520G>C (p.Arg1840=)
c.5535G>C (p.Arg1845=)
c.5715G>C (p.Arg1905=)
c.5649G>C (p.Arg1883=)
c.5712G>C (p.Arg1904=)
c.5709G>C (p.Arg1903=)
c.5655G>C (p.Arg1885=)
c.5580G>C (p.Arg1860=)
c.5175G>C (p.Arg1725=)
c.4533G>C (p.Arg1511=)
c.2043G>C (p.Arg681=)
n.5958G>C
10g.71784908G>TCA470060695CDH23c.5520G>T (p.Arg1840=)
c.5535G>T (p.Arg1845=)
c.5715G>T (p.Arg1905=)
c.5649G>T (p.Arg1883=)
c.5712G>T (p.Arg1904=)
c.5709G>T (p.Arg1903=)
c.5655G>T (p.Arg1885=)
c.5580G>T (p.Arg1860=)
c.5175G>T (p.Arg1725=)
c.4533G>T (p.Arg1511=)
c.2043G>T (p.Arg681=)
n.5958G>T
10g.71784909G>ACA5545804CDH23c.5521G>A (p.Val1841Met)
c.5536G>A (p.Val1846Met)
c.5716G>A (p.Val1906Met)
c.5650G>A (p.Val1884Met)
c.5713G>A (p.Val1905Met)
c.5710G>A (p.Val1904Met)
c.5656G>A (p.Val1886Met)
c.5581G>A (p.Val1861Met)
c.5176G>A (p.Val1726Met)
c.4534G>A (p.Val1512Met)
c.2044G>A (p.Val682Met)
n.5959G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784909G>CCA377146313CDH23c.5521G>C (p.Val1841Leu)
c.5536G>C (p.Val1846Leu)
c.5716G>C (p.Val1906Leu)
c.5650G>C (p.Val1884Leu)
c.5713G>C (p.Val1905Leu)
c.5710G>C (p.Val1904Leu)
c.5656G>C (p.Val1886Leu)
c.5581G>C (p.Val1861Leu)
c.5176G>C (p.Val1726Leu)
c.4534G>C (p.Val1512Leu)
c.2044G>C (p.Val682Leu)
n.5959G>C
 gnomAD v4
10g.71784909G=CA1918862074CDH23c.5521G= (p.Val1841=)
c.5536G= (p.Val1846=)
c.5716G= (p.Val1906=)
c.5650G= (p.Val1884=)
c.5713G= (p.Val1905=)
c.5710G= (p.Val1904=)
c.5656G= (p.Val1886=)
c.5581G= (p.Val1861=)
c.5176G= (p.Val1726=)
c.4534G= (p.Val1512=)
c.2044G= (p.Val682=)
n.5959G=
10g.71784909G>TCA377146316CDH23c.5521G>T (p.Val1841Leu)
c.5536G>T (p.Val1846Leu)
c.5716G>T (p.Val1906Leu)
c.5650G>T (p.Val1884Leu)
c.5713G>T (p.Val1905Leu)
c.5710G>T (p.Val1904Leu)
c.5656G>T (p.Val1886Leu)
c.5581G>T (p.Val1861Leu)
c.5176G>T (p.Val1726Leu)
c.4534G>T (p.Val1512Leu)
c.2044G>T (p.Val682Leu)
n.5959G>T
 gnomAD v4
10g.71784910T>ACA377146318CDH23c.5522T>A (p.Val1841Glu)
c.5537T>A (p.Val1846Glu)
c.5717T>A (p.Val1906Glu)
c.5651T>A (p.Val1884Glu)
c.5714T>A (p.Val1905Glu)
c.5711T>A (p.Val1904Glu)
c.5657T>A (p.Val1886Glu)
c.5582T>A (p.Val1861Glu)
c.5177T>A (p.Val1726Glu)
c.4535T>A (p.Val1512Glu)
c.2045T>A (p.Val682Glu)
n.5960T>A
10g.71784910T>CCA377146322CDH23c.5522T>C (p.Val1841Ala)
c.5537T>C (p.Val1846Ala)
c.5717T>C (p.Val1906Ala)
c.5651T>C (p.Val1884Ala)
c.5714T>C (p.Val1905Ala)
c.5711T>C (p.Val1904Ala)
c.5657T>C (p.Val1886Ala)
c.5582T>C (p.Val1861Ala)
c.5177T>C (p.Val1726Ala)
c.4535T>C (p.Val1512Ala)
c.2045T>C (p.Val682Ala)
n.5960T>C
 dbSNP gnomAD v4
10g.71784910T>GCA377146325CDH23c.5522T>G (p.Val1841Gly)
c.5537T>G (p.Val1846Gly)
c.5717T>G (p.Val1906Gly)
c.5651T>G (p.Val1884Gly)
c.5714T>G (p.Val1905Gly)
c.5711T>G (p.Val1904Gly)
c.5657T>G (p.Val1886Gly)
c.5582T>G (p.Val1861Gly)
c.5177T>G (p.Val1726Gly)
c.4535T>G (p.Val1512Gly)
c.2045T>G (p.Val682Gly)
n.5960T>G
 dbSNP
10g.71784910T=CA1918862077CDH23c.5522T= (p.Val1841=)
c.5537T= (p.Val1846=)
c.5717T= (p.Val1906=)
c.5651T= (p.Val1884=)
c.5714T= (p.Val1905=)
c.5711T= (p.Val1904=)
c.5657T= (p.Val1886=)
c.5582T= (p.Val1861=)
c.5177T= (p.Val1726=)
c.4535T= (p.Val1512=)
c.2045T= (p.Val682=)
n.5960T=
10g.71784911G>ACA137496CDH23c.5523G>A (p.Val1841=)
c.5538G>A (p.Val1846=)
c.5718G>A (p.Val1906=)
c.5652G>A (p.Val1884=)
c.5715G>A (p.Val1905=)
c.5712G>A (p.Val1904=)
c.5658G>A (p.Val1886=)
c.5583G>A (p.Val1861=)
c.5178G>A (p.Val1726=)
c.4536G>A (p.Val1512=)
c.2046G>A (p.Val682=)
n.5961G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784911G>CCA470060696CDH23c.5523G>C (p.Val1841=)
c.5538G>C (p.Val1846=)
c.5718G>C (p.Val1906=)
c.5652G>C (p.Val1884=)
c.5715G>C (p.Val1905=)
c.5712G>C (p.Val1904=)
c.5658G>C (p.Val1886=)
c.5583G>C (p.Val1861=)
c.5178G>C (p.Val1726=)
c.4536G>C (p.Val1512=)
c.2046G>C (p.Val682=)
n.5961G>C
 ClinVar dbSNP
10g.71784911G=CA1918862084CDH23c.5523G= (p.Val1841=)
c.5538G= (p.Val1846=)
c.5718G= (p.Val1906=)
c.5652G= (p.Val1884=)
c.5715G= (p.Val1905=)
c.5712G= (p.Val1904=)
c.5658G= (p.Val1886=)
c.5583G= (p.Val1861=)
c.5178G= (p.Val1726=)
c.4536G= (p.Val1512=)
c.2046G= (p.Val682=)
n.5961G=
10g.71784911G>TCA470060697CDH23c.5523G>T (p.Val1841=)
c.5538G>T (p.Val1846=)
c.5718G>T (p.Val1906=)
c.5652G>T (p.Val1884=)
c.5715G>T (p.Val1905=)
c.5712G>T (p.Val1904=)
c.5658G>T (p.Val1886=)
c.5583G>T (p.Val1861=)
c.5178G>T (p.Val1726=)
c.4536G>T (p.Val1512=)
c.2046G>T (p.Val682=)
n.5961G>T
10g.71784912C>ACA377146331CDH23c.5524C>A (p.Leu1842Met)
c.5539C>A (p.Leu1847Met)
c.5719C>A (p.Leu1907Met)
c.5653C>A (p.Leu1885Met)
c.5716C>A (p.Leu1906Met)
c.5713C>A (p.Leu1905Met)
c.5659C>A (p.Leu1887Met)
c.5584C>A (p.Leu1862Met)
c.5179C>A (p.Leu1727Met)
c.4537C>A (p.Leu1513Met)
c.2047C>A (p.Leu683Met)
n.5962C>A
10g.71784912C>GCA377146329CDH23c.5524C>G (p.Leu1842Val)
c.5539C>G (p.Leu1847Val)
c.5719C>G (p.Leu1907Val)
c.5653C>G (p.Leu1885Val)
c.5716C>G (p.Leu1906Val)
c.5713C>G (p.Leu1905Val)
c.5659C>G (p.Leu1887Val)
c.5584C>G (p.Leu1862Val)
c.5179C>G (p.Leu1727Val)
c.4537C>G (p.Leu1513Val)
c.2047C>G (p.Leu683Val)
n.5962C>G
10g.71784912C>TCA470060698CDH23c.5524C>T (p.Leu1842=)
c.5539C>T (p.Leu1847=)
c.5719C>T (p.Leu1907=)
c.5653C>T (p.Leu1885=)
c.5716C>T (p.Leu1906=)
c.5713C>T (p.Leu1905=)
c.5659C>T (p.Leu1887=)
c.5584C>T (p.Leu1862=)
c.5179C>T (p.Leu1727=)
c.4537C>T (p.Leu1513=)
c.2047C>T (p.Leu683=)
n.5962C>T
 dbSNP
10g.71784913T>ACA377146333CDH23c.5525T>A (p.Leu1842Gln)
c.5540T>A (p.Leu1847Gln)
c.5720T>A (p.Leu1907Gln)
c.5654T>A (p.Leu1885Gln)
c.5717T>A (p.Leu1906Gln)
c.5714T>A (p.Leu1905Gln)
c.5660T>A (p.Leu1887Gln)
c.5585T>A (p.Leu1862Gln)
c.5180T>A (p.Leu1727Gln)
c.4538T>A (p.Leu1513Gln)
c.2048T>A (p.Leu683Gln)
n.5963T>A
10g.71784913T>CCA377146336CDH23c.5525T>C (p.Leu1842Pro)
c.5540T>C (p.Leu1847Pro)
c.5720T>C (p.Leu1907Pro)
c.5654T>C (p.Leu1885Pro)
c.5717T>C (p.Leu1906Pro)
c.5714T>C (p.Leu1905Pro)
c.5660T>C (p.Leu1887Pro)
c.5585T>C (p.Leu1862Pro)
c.5180T>C (p.Leu1727Pro)
c.4538T>C (p.Leu1513Pro)
c.2048T>C (p.Leu683Pro)
n.5963T>C
 dbSNP gnomAD v4
10g.71784913T>GCA377146340CDH23c.5525T>G (p.Leu1842Arg)
c.5540T>G (p.Leu1847Arg)
c.5720T>G (p.Leu1907Arg)
c.5654T>G (p.Leu1885Arg)
c.5717T>G (p.Leu1906Arg)
c.5714T>G (p.Leu1905Arg)
c.5660T>G (p.Leu1887Arg)
c.5585T>G (p.Leu1862Arg)
c.5180T>G (p.Leu1727Arg)
c.4538T>G (p.Leu1513Arg)
c.2048T>G (p.Leu683Arg)
n.5963T>G
10g.71784913T=CA1918862099CDH23c.5525T= (p.Leu1842=)
c.5540T= (p.Leu1847=)
c.5720T= (p.Leu1907=)
c.5654T= (p.Leu1885=)
c.5717T= (p.Leu1906=)
c.5714T= (p.Leu1905=)
c.5660T= (p.Leu1887=)
c.5585T= (p.Leu1862=)
c.5180T= (p.Leu1727=)
c.4538T= (p.Leu1513=)
c.2048T= (p.Leu683=)
n.5963T=
10g.71784914G>ACA470060699CDH23c.5526G>A (p.Leu1842=)
c.5541G>A (p.Leu1847=)
c.5721G>A (p.Leu1907=)
c.5655G>A (p.Leu1885=)
c.5718G>A (p.Leu1906=)
c.5715G>A (p.Leu1905=)
c.5661G>A (p.Leu1887=)
c.5586G>A (p.Leu1862=)
c.5181G>A (p.Leu1727=)
c.4539G>A (p.Leu1513=)
c.2049G>A (p.Leu683=)
n.5964G>A
10g.71784914G>CCA209457399CDH23c.5526G>C (p.Leu1842=)
c.5541G>C (p.Leu1847=)
c.5721G>C (p.Leu1907=)
c.5655G>C (p.Leu1885=)
c.5718G>C (p.Leu1906=)
c.5715G>C (p.Leu1905=)
c.5661G>C (p.Leu1887=)
c.5586G>C (p.Leu1862=)
c.5181G>C (p.Leu1727=)
c.4539G>C (p.Leu1513=)
c.2049G>C (p.Leu683=)
n.5964G>C
 dbSNP
10g.71784914G=CA1918862106CDH23c.5526G= (p.Leu1842=)
c.5541G= (p.Leu1847=)
c.5721G= (p.Leu1907=)
c.5655G= (p.Leu1885=)
c.5718G= (p.Leu1906=)
c.5715G= (p.Leu1905=)
c.5661G= (p.Leu1887=)
c.5586G= (p.Leu1862=)
c.5181G= (p.Leu1727=)
c.4539G= (p.Leu1513=)
c.2049G= (p.Leu683=)
n.5964G=
10g.71784914G>TCA470060700CDH23c.5526G>T (p.Leu1842=)
c.5541G>T (p.Leu1847=)
c.5721G>T (p.Leu1907=)
c.5655G>T (p.Leu1885=)
c.5718G>T (p.Leu1906=)
c.5715G>T (p.Leu1905=)
c.5661G>T (p.Leu1887=)
c.5586G>T (p.Leu1862=)
c.5181G>T (p.Leu1727=)
c.4539G>T (p.Leu1513=)
c.2049G>T (p.Leu683=)
n.5964G>T
10g.71784915G>ACA377146351CDH23c.5527G>A (p.Asp1843Asn)
c.5542G>A (p.Asp1848Asn)
c.5722G>A (p.Asp1908Asn)
c.5656G>A (p.Asp1886Asn)
c.5719G>A (p.Asp1907Asn)
c.5716G>A (p.Asp1906Asn)
c.5662G>A (p.Asp1888Asn)
c.5587G>A (p.Asp1863Asn)
c.5182G>A (p.Asp1728Asn)
c.4540G>A (p.Asp1514Asn)
c.2050G>A (p.Asp684Asn)
n.5965G>A
 COSMIC
10g.71784915G>CCA377146353CDH23c.5527G>C (p.Asp1843His)
c.5542G>C (p.Asp1848His)
c.5722G>C (p.Asp1908His)
c.5656G>C (p.Asp1886His)
c.5719G>C (p.Asp1907His)
c.5716G>C (p.Asp1906His)
c.5662G>C (p.Asp1888His)
c.5587G>C (p.Asp1863His)
c.5182G>C (p.Asp1728His)
c.4540G>C (p.Asp1514His)
c.2050G>C (p.Asp684His)
n.5965G>C
 dbSNP
10g.71784915G=CA1918862117CDH23c.5527G= (p.Asp1843=)
c.5542G= (p.Asp1848=)
c.5722G= (p.Asp1908=)
c.5656G= (p.Asp1886=)
c.5719G= (p.Asp1907=)
c.5716G= (p.Asp1906=)
c.5662G= (p.Asp1888=)
c.5587G= (p.Asp1863=)
c.5182G= (p.Asp1728=)
c.4540G= (p.Asp1514=)
c.2050G= (p.Asp684=)
n.5965G=
10g.71784915G>TCA377146355CDH23c.5527G>T (p.Asp1843Tyr)
c.5542G>T (p.Asp1848Tyr)
c.5722G>T (p.Asp1908Tyr)
c.5656G>T (p.Asp1886Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5716G>T (p.Asp1906Tyr)
c.5662G>T (p.Asp1888Tyr)
c.5587G>T (p.Asp1863Tyr)
c.5182G>T (p.Asp1728Tyr)
c.4540G>T (p.Asp1514Tyr)
c.2050G>T (p.Asp684Tyr)
n.5965G>T
10g.71784916A>CCA377146358CDH23c.5528A>C (p.Asp1843Ala)
c.5543A>C (p.Asp1848Ala)
c.5723A>C (p.Asp1908Ala)
c.5657A>C (p.Asp1886Ala)
c.5720A>C (p.Asp1907Ala)
c.5717A>C (p.Asp1906Ala)
c.5663A>C (p.Asp1888Ala)
c.5588A>C (p.Asp1863Ala)
c.5183A>C (p.Asp1728Ala)
c.4541A>C (p.Asp1514Ala)
c.2051A>C (p.Asp684Ala)
n.5966A>C
10g.71784916A>GCA377146362CDH23c.5528A>G (p.Asp1843Gly)
c.5543A>G (p.Asp1848Gly)
c.5723A>G (p.Asp1908Gly)
c.5657A>G (p.Asp1886Gly)
c.5720A>G (p.Asp1907Gly)
c.5717A>G (p.Asp1906Gly)
c.5663A>G (p.Asp1888Gly)
c.5588A>G (p.Asp1863Gly)
c.5183A>G (p.Asp1728Gly)
c.4541A>G (p.Asp1514Gly)
c.2051A>G (p.Asp684Gly)
n.5966A>G
10g.71784916A>TCA377146364CDH23c.5528A>T (p.Asp1843Val)
c.5543A>T (p.Asp1848Val)
c.5723A>T (p.Asp1908Val)
c.5657A>T (p.Asp1886Val)
c.5720A>T (p.Asp1907Val)
c.5717A>T (p.Asp1906Val)
c.5663A>T (p.Asp1888Val)
c.5588A>T (p.Asp1863Val)
c.5183A>T (p.Asp1728Val)
c.4541A>T (p.Asp1514Val)
c.2051A>T (p.Asp684Val)
n.5966A>T
10g.71784917C>ACA377146369CDH23c.5529C>A (p.Asp1843Glu)
c.5544C>A (p.Asp1848Glu)
c.5724C>A (p.Asp1908Glu)
c.5658C>A (p.Asp1886Glu)
c.5721C>A (p.Asp1907Glu)
c.5718C>A (p.Asp1906Glu)
c.5664C>A (p.Asp1888Glu)
c.5589C>A (p.Asp1863Glu)
c.5184C>A (p.Asp1728Glu)
c.4542C>A (p.Asp1514Glu)
c.2052C>A (p.Asp684Glu)
n.5967C>A
10g.71784917C=CA1918862124CDH23c.5529C= (p.Asp1843=)
c.5544C= (p.Asp1848=)
c.5724C= (p.Asp1908=)
c.5658C= (p.Asp1886=)
c.5721C= (p.Asp1907=)
c.5718C= (p.Asp1906=)
c.5664C= (p.Asp1888=)
c.5589C= (p.Asp1863=)
c.5184C= (p.Asp1728=)
c.4542C= (p.Asp1514=)
c.2052C= (p.Asp684=)
n.5967C=
10g.71784917C>GCA377146373CDH23c.5529C>G (p.Asp1843Glu)
c.5544C>G (p.Asp1848Glu)
c.5724C>G (p.Asp1908Glu)
c.5658C>G (p.Asp1886Glu)
c.5721C>G (p.Asp1907Glu)
c.5718C>G (p.Asp1906Glu)
c.5664C>G (p.Asp1888Glu)
c.5589C>G (p.Asp1863Glu)
c.5184C>G (p.Asp1728Glu)
c.4542C>G (p.Asp1514Glu)
c.2052C>G (p.Asp684Glu)
n.5967C>G
10g.71784917C>TCA5545805CDH23c.5529C>T (p.Asp1843=)
c.5544C>T (p.Asp1848=)
c.5724C>T (p.Asp1908=)
c.5658C>T (p.Asp1886=)
c.5721C>T (p.Asp1907=)
c.5718C>T (p.Asp1906=)
c.5664C>T (p.Asp1888=)
c.5589C>T (p.Asp1863=)
c.5184C>T (p.Asp1728=)
c.4542C>T (p.Asp1514=)
c.2052C>T (p.Asp684=)
n.5967C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71784918A=CA1918862134CDH23c.5530A= (p.Ile1844=)
c.5545A= (p.Ile1849=)
c.5725A= (p.Ile1909=)
c.5659A= (p.Ile1887=)
c.5722A= (p.Ile1908=)
c.5719A= (p.Ile1907=)
c.5665A= (p.Ile1889=)
c.5590A= (p.Ile1864=)
c.5185A= (p.Ile1729=)
c.4543A= (p.Ile1515=)
c.2053A= (p.Ile685=)
n.5968A=
10g.71784918A>CCA377146377CDH23c.5530A>C (p.Ile1844Leu)
c.5545A>C (p.Ile1849Leu)
c.5725A>C (p.Ile1909Leu)
c.5659A>C (p.Ile1887Leu)
c.5722A>C (p.Ile1908Leu)
c.5719A>C (p.Ile1907Leu)
c.5665A>C (p.Ile1889Leu)
c.5590A>C (p.Ile1864Leu)
c.5185A>C (p.Ile1729Leu)
c.4543A>C (p.Ile1515Leu)
c.2053A>C (p.Ile685Leu)
n.5968A>C
 dbSNP
10g.71784918A>GCA377146382CDH23c.5530A>G (p.Ile1844Val)
c.5545A>G (p.Ile1849Val)
c.5725A>G (p.Ile1909Val)
c.5659A>G (p.Ile1887Val)
c.5722A>G (p.Ile1908Val)
c.5719A>G (p.Ile1907Val)
c.5665A>G (p.Ile1889Val)
c.5590A>G (p.Ile1864Val)
c.5185A>G (p.Ile1729Val)
c.4543A>G (p.Ile1515Val)
c.2053A>G (p.Ile685Val)
n.5968A>G
 gnomAD v4
10g.71784918A>TCA377146380CDH23c.5530A>T (p.Ile1844Phe)
c.5545A>T (p.Ile1849Phe)
c.5725A>T (p.Ile1909Phe)
c.5659A>T (p.Ile1887Phe)
c.5722A>T (p.Ile1908Phe)
c.5719A>T (p.Ile1907Phe)
c.5665A>T (p.Ile1889Phe)
c.5590A>T (p.Ile1864Phe)
c.5185A>T (p.Ile1729Phe)
c.4543A>T (p.Ile1515Phe)
c.2053A>T (p.Ile685Phe)
n.5968A>T
10g.71784919T>ACA377146386CDH23c.5531T>A (p.Ile1844Asn)
c.5546T>A (p.Ile1849Asn)
c.5726T>A (p.Ile1909Asn)
c.5660T>A (p.Ile1887Asn)
c.5723T>A (p.Ile1908Asn)
c.5720T>A (p.Ile1907Asn)
c.5666T>A (p.Ile1889Asn)
c.5591T>A (p.Ile1864Asn)
c.5186T>A (p.Ile1729Asn)
c.4544T>A (p.Ile1515Asn)
c.2054T>A (p.Ile685Asn)
n.5969T>A
10g.71784919T>CCA377146388CDH23c.5531T>C (p.Ile1844Thr)
c.5546T>C (p.Ile1849Thr)
c.5726T>C (p.Ile1909Thr)
c.5660T>C (p.Ile1887Thr)
c.5723T>C (p.Ile1908Thr)
c.5720T>C (p.Ile1907Thr)
c.5666T>C (p.Ile1889Thr)
c.5591T>C (p.Ile1864Thr)
c.5186T>C (p.Ile1729Thr)
c.4544T>C (p.Ile1515Thr)
c.2054T>C (p.Ile685Thr)
n.5969T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71784919T>GCA377146391CDH23c.5531T>G (p.Ile1844Ser)
c.5546T>G (p.Ile1849Ser)
c.5726T>G (p.Ile1909Ser)
c.5660T>G (p.Ile1887Ser)
c.5723T>G (p.Ile1908Ser)
c.5720T>G (p.Ile1907Ser)
c.5666T>G (p.Ile1889Ser)
c.5591T>G (p.Ile1864Ser)
c.5186T>G (p.Ile1729Ser)
c.4544T>G (p.Ile1515Ser)
c.2054T>G (p.Ile685Ser)
n.5969T>G
10g.71784919T=CA1918862135CDH23c.5531T= (p.Ile1844=)
c.5546T= (p.Ile1849=)
c.5726T= (p.Ile1909=)
c.5660T= (p.Ile1887=)
c.5723T= (p.Ile1908=)
c.5720T= (p.Ile1907=)
c.5666T= (p.Ile1889=)
c.5591T= (p.Ile1864=)
c.5186T= (p.Ile1729=)
c.4544T= (p.Ile1515=)
c.2054T= (p.Ile685=)
n.5969T=
10g.71784920C>ACA470060702CDH23c.5532C>A (p.Ile1844=)
c.5547C>A (p.Ile1849=)
c.5727C>A (p.Ile1909=)
c.5661C>A (p.Ile1887=)
c.5724C>A (p.Ile1908=)
c.5721C>A (p.Ile1907=)
c.5667C>A (p.Ile1889=)
c.5592C>A (p.Ile1864=)
c.5187C>A (p.Ile1729=)
c.4545C>A (p.Ile1515=)
c.2055C>A (p.Ile685=)
n.5970C>A
 ClinVar
10g.71784920C>GCA377146399CDH23c.5532C>G (p.Ile1844Met)
c.5547C>G (p.Ile1849Met)
c.5727C>G (p.Ile1909Met)
c.5661C>G (p.Ile1887Met)
c.5724C>G (p.Ile1908Met)
c.5721C>G (p.Ile1907Met)
c.5667C>G (p.Ile1889Met)
c.5592C>G (p.Ile1864Met)
c.5187C>G (p.Ile1729Met)
c.4545C>G (p.Ile1515Met)
c.2055C>G (p.Ile685Met)
n.5970C>G
 gnomAD v4
10g.71784920C>TCA470060701CDH23c.5532C>T (p.Ile1844=)
c.5547C>T (p.Ile1849=)
c.5727C>T (p.Ile1909=)
c.5661C>T (p.Ile1887=)
c.5724C>T (p.Ile1908=)
c.5721C>T (p.Ile1907=)
c.5667C>T (p.Ile1889=)
c.5592C>T (p.Ile1864=)
c.5187C>T (p.Ile1729=)
c.4545C>T (p.Ile1515=)
c.2055C>T (p.Ile685=)
n.5970C>T
 ClinVar dbSNP
10g.71784921A>CCA377146402CDH23c.5533A>C (p.Asn1845His)
c.5548A>C (p.Asn1850His)
c.5728A>C (p.Asn1910His)
c.5662A>C (p.Asn1888His)
c.5725A>C (p.Asn1909His)
c.5722A>C (p.Asn1908His)
c.5668A>C (p.Asn1890His)
c.5593A>C (p.Asn1865His)
c.5188A>C (p.Asn1730His)
c.4546A>C (p.Asn1516His)
c.2056A>C (p.Asn686His)
n.5971A>C
10g.71784921A>GCA377146416CDH23c.5533A>G (p.Asn1845Asp)
c.5548A>G (p.Asn1850Asp)
c.5728A>G (p.Asn1910Asp)
c.5662A>G (p.Asn1888Asp)
c.5725A>G (p.Asn1909Asp)
c.5722A>G (p.Asn1908Asp)
c.5668A>G (p.Asn1890Asp)
c.5593A>G (p.Asn1865Asp)
c.5188A>G (p.Asn1730Asp)
c.4546A>G (p.Asn1516Asp)
c.2056A>G (p.Asn686Asp)
n.5971A>G
10g.71784921A>TCA377146419CDH23c.5533A>T (p.Asn1845Tyr)
c.5548A>T (p.Asn1850Tyr)
c.5728A>T (p.Asn1910Tyr)
c.5662A>T (p.Asn1888Tyr)
c.5725A>T (p.Asn1909Tyr)
c.5722A>T (p.Asn1908Tyr)
c.5668A>T (p.Asn1890Tyr)
c.5593A>T (p.Asn1865Tyr)
c.5188A>T (p.Asn1730Tyr)
c.4546A>T (p.Asn1516Tyr)
c.2056A>T (p.Asn686Tyr)
n.5971A>T
10g.71784922delCA2609543712CDH23c.5534del (p.Asn1845ThrfsTer8)
c.5549del (p.Asn1850ThrfsTer8)
c.5729del (p.Asn1910ThrfsTer8)
c.5663del (p.Asn1888ThrfsTer8)
c.5726del (p.Asn1909ThrfsTer8)
c.5723del (p.Asn1908ThrfsTer8)
c.5669del (p.Asn1890ThrfsTer8)
c.5594del (p.Asn1865ThrfsTer8)
c.5189del (p.Asn1730ThrfsTer8)
c.4547del (p.Asn1516ThrfsTer8)
c.2057del (p.Asn686ThrfsTer8)
n.5972del
 gnomAD v4
10g.71784922A=CA1918862137CDH23c.5534A= (p.Asn1845=)
c.5549A= (p.Asn1850=)
c.5729A= (p.Asn1910=)
c.5663A= (p.Asn1888=)
c.5726A= (p.Asn1909=)
c.5723A= (p.Asn1908=)
c.5669A= (p.Asn1890=)
c.5594A= (p.Asn1865=)
c.5189A= (p.Asn1730=)
c.4547A= (p.Asn1516=)
c.2057A= (p.Asn686=)
n.5972A=
10g.71784922A>CCA377146423CDH23c.5534A>C (p.Asn1845Thr)
c.5549A>C (p.Asn1850Thr)
c.5729A>C (p.Asn1910Thr)
c.5663A>C (p.Asn1888Thr)
c.5726A>C (p.Asn1909Thr)
c.5723A>C (p.Asn1908Thr)
c.5669A>C (p.Asn1890Thr)
c.5594A>C (p.Asn1865Thr)
c.5189A>C (p.Asn1730Thr)
c.4547A>C (p.Asn1516Thr)
c.2057A>C (p.Asn686Thr)
n.5972A>C
10g.71784922A>GCA377146427CDH23c.5534A>G (p.Asn1845Ser)
c.5549A>G (p.Asn1850Ser)
c.5729A>G (p.Asn1910Ser)
c.5663A>G (p.Asn1888Ser)
c.5726A>G (p.Asn1909Ser)
c.5723A>G (p.Asn1908Ser)
c.5669A>G (p.Asn1890Ser)
c.5594A>G (p.Asn1865Ser)
c.5189A>G (p.Asn1730Ser)
c.4547A>G (p.Asn1516Ser)
c.2057A>G (p.Asn686Ser)
n.5972A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71784922A>TCA377146431CDH23c.5534A>T (p.Asn1845Ile)
c.5549A>T (p.Asn1850Ile)
c.5729A>T (p.Asn1910Ile)
c.5663A>T (p.Asn1888Ile)
c.5726A>T (p.Asn1909Ile)
c.5723A>T (p.Asn1908Ile)
c.5669A>T (p.Asn1890Ile)
c.5594A>T (p.Asn1865Ile)
c.5189A>T (p.Asn1730Ile)
c.4547A>T (p.Asn1516Ile)
c.2057A>T (p.Asn686Ile)
n.5972A>T
10g.71784923C>ACA377146442CDH23c.5535C>A (p.Asn1845Lys)
c.5550C>A (p.Asn1850Lys)
c.5730C>A (p.Asn1910Lys)
c.5664C>A (p.Asn1888Lys)
c.5727C>A (p.Asn1909Lys)
c.5724C>A (p.Asn1908Lys)
c.5670C>A (p.Asn1890Lys)
c.5595C>A (p.Asn1865Lys)
c.5190C>A (p.Asn1730Lys)
c.4548C>A (p.Asn1516Lys)
c.2058C>A (p.Asn686Lys)
n.5973C>A
 ClinVar dbSNP gnomAD v4
10g.71784923C=CA1918862141CDH23c.5535C= (p.Asn1845=)
c.5550C= (p.Asn1850=)
c.5730C= (p.Asn1910=)
c.5664C= (p.Asn1888=)
c.5727C= (p.Asn1909=)
c.5724C= (p.Asn1908=)
c.5670C= (p.Asn1890=)
c.5595C= (p.Asn1865=)
c.5190C= (p.Asn1730=)
c.4548C= (p.Asn1516=)
c.2058C= (p.Asn686=)
n.5973C=
10g.71784923C>GCA377146438CDH23c.5535C>G (p.Asn1845Lys)
c.5550C>G (p.Asn1850Lys)
c.5730C>G (p.Asn1910Lys)
c.5664C>G (p.Asn1888Lys)
c.5727C>G (p.Asn1909Lys)
c.5724C>G (p.Asn1908Lys)
c.5670C>G (p.Asn1890Lys)
c.5595C>G (p.Asn1865Lys)
c.5190C>G (p.Asn1730Lys)
c.4548C>G (p.Asn1516Lys)
c.2058C>G (p.Asn686Lys)
n.5973C>G
10g.71784923C>TCA5545806CDH23c.5535C>T (p.Asn1845=)
c.5550C>T (p.Asn1850=)
c.5730C>T (p.Asn1910=)
c.5664C>T (p.Asn1888=)
c.5727C>T (p.Asn1909=)
c.5724C>T (p.Asn1908=)
c.5670C>T (p.Asn1890=)
c.5595C>T (p.Asn1865=)
c.5190C>T (p.Asn1730=)
c.4548C>T (p.Asn1516=)
c.2058C>T (p.Asn686=)
n.5973C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71784924G>ACA5545807CDH23c.5536G>A (p.Asp1846Asn)
c.5551G>A (p.Asp1851Asn)
c.5731G>A (p.Asp1911Asn)
c.5665G>A (p.Asp1889Asn)
c.5728G>A (p.Asp1910Asn)
c.5725G>A (p.Asp1909Asn)
c.5671G>A (p.Asp1891Asn)
c.5596G>A (p.Asp1866Asn)
c.5191G>A (p.Asp1731Asn)
c.4549G>A (p.Asp1517Asn)
c.2059G>A (p.Asp687Asn)
n.5974G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784924G>CCA377146451CDH23c.5536G>C (p.Asp1846His)
c.5551G>C (p.Asp1851His)
c.5731G>C (p.Asp1911His)
c.5665G>C (p.Asp1889His)
c.5728G>C (p.Asp1910His)
c.5725G>C (p.Asp1909His)
c.5671G>C (p.Asp1891His)
c.5596G>C (p.Asp1866His)
c.5191G>C (p.Asp1731His)
c.4549G>C (p.Asp1517His)
c.2059G>C (p.Asp687His)
n.5974G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71784924G=CA1918862148CDH23c.5536G= (p.Asp1846=)
c.5551G= (p.Asp1851=)
c.5731G= (p.Asp1911=)
c.5665G= (p.Asp1889=)
c.5728G= (p.Asp1910=)
c.5725G= (p.Asp1909=)
c.5671G= (p.Asp1891=)
c.5596G= (p.Asp1866=)
c.5191G= (p.Asp1731=)
c.4549G= (p.Asp1517=)
c.2059G= (p.Asp687=)
n.5974G=
10g.71784924G>TCA377146465CDH23c.5536G>T (p.Asp1846Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5731G>T (p.Asp1911Tyr)
c.5665G>T (p.Asp1889Tyr)
c.5728G>T (p.Asp1910Tyr)
c.5725G>T (p.Asp1909Tyr)
c.5671G>T (p.Asp1891Tyr)
c.5596G>T (p.Asp1866Tyr)
c.5191G>T (p.Asp1731Tyr)
c.4549G>T (p.Asp1517Tyr)
c.2059G>T (p.Asp687Tyr)
n.5974G>T
10g.71784925A>CCA377146467CDH23c.5537A>C (p.Asp1846Ala)
c.5552A>C (p.Asp1851Ala)
c.5732A>C (p.Asp1911Ala)
c.5666A>C (p.Asp1889Ala)
c.5729A>C (p.Asp1910Ala)
c.5726A>C (p.Asp1909Ala)
c.5672A>C (p.Asp1891Ala)
c.5597A>C (p.Asp1866Ala)
c.5192A>C (p.Asp1731Ala)
c.4550A>C (p.Asp1517Ala)
c.2060A>C (p.Asp687Ala)
n.5975A>C
10g.71784925A>GCA377146471CDH23c.5537A>G (p.Asp1846Gly)
c.5552A>G (p.Asp1851Gly)
c.5732A>G (p.Asp1911Gly)
c.5666A>G (p.Asp1889Gly)
c.5729A>G (p.Asp1910Gly)
c.5726A>G (p.Asp1909Gly)
c.5672A>G (p.Asp1891Gly)
c.5597A>G (p.Asp1866Gly)
c.5192A>G (p.Asp1731Gly)
c.4550A>G (p.Asp1517Gly)
c.2060A>G (p.Asp687Gly)
n.5975A>G
10g.71784925A>TCA377146473CDH23c.5537A>T (p.Asp1846Val)
c.5552A>T (p.Asp1851Val)
c.5732A>T (p.Asp1911Val)
c.5666A>T (p.Asp1889Val)
c.5729A>T (p.Asp1910Val)
c.5726A>T (p.Asp1909Val)
c.5672A>T (p.Asp1891Val)
c.5597A>T (p.Asp1866Val)
c.5192A>T (p.Asp1731Val)
c.4550A>T (p.Asp1517Val)
c.2060A>T (p.Asp687Val)
n.5975A>T
10g.71784926C>ACA377146474CDH23c.5538C>A (p.Asp1846Glu)
c.5553C>A (p.Asp1851Glu)
c.5733C>A (p.Asp1911Glu)
c.5667C>A (p.Asp1889Glu)
c.5730C>A (p.Asp1910Glu)
c.5727C>A (p.Asp1909Glu)
c.5673C>A (p.Asp1891Glu)
c.5598C>A (p.Asp1866Glu)
c.5193C>A (p.Asp1731Glu)
c.4551C>A (p.Asp1517Glu)
c.2061C>A (p.Asp687Glu)
n.5976C>A
 gnomAD v4
10g.71784926C=CA1918862153CDH23c.5538C= (p.Asp1846=)
c.5553C= (p.Asp1851=)
c.5733C= (p.Asp1911=)
c.5667C= (p.Asp1889=)
c.5730C= (p.Asp1910=)
c.5727C= (p.Asp1909=)
c.5673C= (p.Asp1891=)
c.5598C= (p.Asp1866=)
c.5193C= (p.Asp1731=)
c.4551C= (p.Asp1517=)
c.2061C= (p.Asp687=)
n.5976C=
10g.71784926C>GCA377146478CDH23c.5538C>G (p.Asp1846Glu)
c.5553C>G (p.Asp1851Glu)
c.5733C>G (p.Asp1911Glu)
c.5667C>G (p.Asp1889Glu)
c.5730C>G (p.Asp1910Glu)
c.5727C>G (p.Asp1909Glu)
c.5673C>G (p.Asp1891Glu)
c.5598C>G (p.Asp1866Glu)
c.5193C>G (p.Asp1731Glu)
c.4551C>G (p.Asp1517Glu)
c.2061C>G (p.Asp687Glu)
n.5976C>G
10g.71784926C>TCA470060703CDH23c.5538C>T (p.Asp1846=)
c.5553C>T (p.Asp1851=)
c.5733C>T (p.Asp1911=)
c.5667C>T (p.Asp1889=)
c.5730C>T (p.Asp1910=)
c.5727C>T (p.Asp1909=)
c.5673C>T (p.Asp1891=)
c.5598C>T (p.Asp1866=)
c.5193C>T (p.Asp1731=)
c.4551C>T (p.Asp1517=)
c.2061C>T (p.Asp687=)
n.5976C>T
 dbSNP
10g.71784927A>CCA377146481CDH23c.5539A>C (p.Asn1847His)
c.5554A>C (p.Asn1852His)
c.5734A>C (p.Asn1912His)
c.5668A>C (p.Asn1890His)
c.5731A>C (p.Asn1911His)
c.5728A>C (p.Asn1910His)
c.5674A>C (p.Asn1892His)
c.5599A>C (p.Asn1867His)
c.5194A>C (p.Asn1732His)
c.4552A>C (p.Asn1518His)
c.2062A>C (p.Asn688His)
n.5977A>C
 dbSNP
10g.71784927A>GCA377146484CDH23c.5539A>G (p.Asn1847Asp)
c.5554A>G (p.Asn1852Asp)
c.5734A>G (p.Asn1912Asp)
c.5668A>G (p.Asn1890Asp)
c.5731A>G (p.Asn1911Asp)
c.5728A>G (p.Asn1910Asp)
c.5674A>G (p.Asn1892Asp)
c.5599A>G (p.Asn1867Asp)
c.5194A>G (p.Asn1732Asp)
c.4552A>G (p.Asn1518Asp)
c.2062A>G (p.Asn688Asp)
n.5977A>G
 dbSNP
10g.71784927A>TCA377146487CDH23c.5539A>T (p.Asn1847Tyr)
c.5554A>T (p.Asn1852Tyr)
c.5734A>T (p.Asn1912Tyr)
c.5668A>T (p.Asn1890Tyr)
c.5731A>T (p.Asn1911Tyr)
c.5728A>T (p.Asn1910Tyr)
c.5674A>T (p.Asn1892Tyr)
c.5599A>T (p.Asn1867Tyr)
c.5194A>T (p.Asn1732Tyr)
c.4552A>T (p.Asn1518Tyr)
c.2062A>T (p.Asn688Tyr)
n.5977A>T
 dbSNP
10g.71784928A>CCA377146492CDH23c.5540A>C (p.Asn1847Thr)
c.5555A>C (p.Asn1852Thr)
c.5735A>C (p.Asn1912Thr)
c.5669A>C (p.Asn1890Thr)
c.5732A>C (p.Asn1911Thr)
c.5729A>C (p.Asn1910Thr)
c.5675A>C (p.Asn1892Thr)
c.5600A>C (p.Asn1867Thr)
c.5195A>C (p.Asn1732Thr)
c.4553A>C (p.Asn1518Thr)
c.2063A>C (p.Asn688Thr)
n.5978A>C
10g.71784928A>GCA377146499CDH23c.5540A>G (p.Asn1847Ser)
c.5555A>G (p.Asn1852Ser)
c.5735A>G (p.Asn1912Ser)
c.5669A>G (p.Asn1890Ser)
c.5732A>G (p.Asn1911Ser)
c.5729A>G (p.Asn1910Ser)
c.5675A>G (p.Asn1892Ser)
c.5600A>G (p.Asn1867Ser)
c.5195A>G (p.Asn1732Ser)
c.4553A>G (p.Asn1518Ser)
c.2063A>G (p.Asn688Ser)
n.5978A>G
10g.71784928A>TCA377146490CDH23c.5540A>T (p.Asn1847Ile)
c.5555A>T (p.Asn1852Ile)
c.5735A>T (p.Asn1912Ile)
c.5669A>T (p.Asn1890Ile)
c.5732A>T (p.Asn1911Ile)
c.5729A>T (p.Asn1910Ile)
c.5675A>T (p.Asn1892Ile)
c.5600A>T (p.Asn1867Ile)
c.5195A>T (p.Asn1732Ile)
c.4553A>T (p.Asn1518Ile)
c.2063A>T (p.Asn688Ile)
n.5978A>T
10g.71784929C>ACA377146513CDH23c.5541C>A (p.Asn1847Lys)
c.5556C>A (p.Asn1852Lys)
c.5736C>A (p.Asn1912Lys)
c.5670C>A (p.Asn1890Lys)
c.5733C>A (p.Asn1911Lys)
c.5730C>A (p.Asn1910Lys)
c.5676C>A (p.Asn1892Lys)
c.5601C>A (p.Asn1867Lys)
c.5196C>A (p.Asn1732Lys)
c.4554C>A (p.Asn1518Lys)
c.2064C>A (p.Asn688Lys)
n.5979C>A
10g.71784929C=CA1918862157CDH23c.5541C= (p.Asn1847=)
c.5556C= (p.Asn1852=)
c.5736C= (p.Asn1912=)
c.5670C= (p.Asn1890=)
c.5733C= (p.Asn1911=)
c.5730C= (p.Asn1910=)
c.5676C= (p.Asn1892=)
c.5601C= (p.Asn1867=)
c.5196C= (p.Asn1732=)
c.4554C= (p.Asn1518=)
c.2064C= (p.Asn688=)
n.5979C=
10g.71784929C>GCA377146502CDH23c.5541C>G (p.Asn1847Lys)
c.5556C>G (p.Asn1852Lys)
c.5736C>G (p.Asn1912Lys)
c.5670C>G (p.Asn1890Lys)
c.5733C>G (p.Asn1911Lys)
c.5730C>G (p.Asn1910Lys)
c.5676C>G (p.Asn1892Lys)
c.5601C>G (p.Asn1867Lys)
c.5196C>G (p.Asn1732Lys)
c.4554C>G (p.Asn1518Lys)
c.2064C>G (p.Asn688Lys)
n.5979C>G
10g.71784929C>TCA137498CDH23c.5541C>T (p.Asn1847=)
c.5556C>T (p.Asn1852=)
c.5736C>T (p.Asn1912=)
c.5670C>T (p.Asn1890=)
c.5733C>T (p.Asn1911=)
c.5730C>T (p.Asn1910=)
c.5676C>T (p.Asn1892=)
c.5601C>T (p.Asn1867=)
c.5196C>T (p.Asn1732=)
c.4554C>T (p.Asn1518=)
c.2064C>T (p.Asn688=)
n.5979C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784930G>ACA5545808CDH23c.5542G>A (p.Asp1848Asn)
c.5557G>A (p.Asp1853Asn)
c.5737G>A (p.Asp1913Asn)
c.5671G>A (p.Asp1891Asn)
c.5734G>A (p.Asp1912Asn)
c.5731G>A (p.Asp1911Asn)
c.5677G>A (p.Asp1893Asn)
c.5602G>A (p.Asp1868Asn)
c.5197G>A (p.Asp1733Asn)
c.4555G>A (p.Asp1519Asn)
c.2065G>A (p.Asp689Asn)
n.5980G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784930G>CCA377146519CDH23c.5542G>C (p.Asp1848His)
c.5557G>C (p.Asp1853His)
c.5737G>C (p.Asp1913His)
c.5671G>C (p.Asp1891His)
c.5734G>C (p.Asp1912His)
c.5731G>C (p.Asp1911His)
c.5677G>C (p.Asp1893His)
c.5602G>C (p.Asp1868His)
c.5197G>C (p.Asp1733His)
c.4555G>C (p.Asp1519His)
c.2065G>C (p.Asp689His)
n.5980G>C
 gnomAD v4
10g.71784930G=CA1918862166CDH23c.5542G= (p.Asp1848=)
c.5557G= (p.Asp1853=)
c.5737G= (p.Asp1913=)
c.5671G= (p.Asp1891=)
c.5734G= (p.Asp1912=)
c.5731G= (p.Asp1911=)
c.5677G= (p.Asp1893=)
c.5602G= (p.Asp1868=)
c.5197G= (p.Asp1733=)
c.4555G= (p.Asp1519=)
c.2065G= (p.Asp689=)
n.5980G=
10g.71784930G>TCA377146522CDH23c.5542G>T (p.Asp1848Tyr)
c.5557G>T (p.Asp1853Tyr)
c.5737G>T (p.Asp1913Tyr)
c.5671G>T (p.Asp1891Tyr)
c.5734G>T (p.Asp1912Tyr)
c.5731G>T (p.Asp1911Tyr)
c.5677G>T (p.Asp1893Tyr)
c.5602G>T (p.Asp1868Tyr)
c.5197G>T (p.Asp1733Tyr)
c.4555G>T (p.Asp1519Tyr)
c.2065G>T (p.Asp689Tyr)
n.5980G>T
 gnomAD v4
10g.71784931A>CCA377146533CDH23c.5543A>C (p.Asp1848Ala)
c.5558A>C (p.Asp1853Ala)
c.5738A>C (p.Asp1913Ala)
c.5672A>C (p.Asp1891Ala)
c.5735A>C (p.Asp1912Ala)
c.5732A>C (p.Asp1911Ala)
c.5678A>C (p.Asp1893Ala)
c.5603A>C (p.Asp1868Ala)
c.5198A>C (p.Asp1733Ala)
c.4556A>C (p.Asp1519Ala)
c.2066A>C (p.Asp689Ala)
n.5981A>C
10g.71784931A>GCA377146531CDH23c.5543A>G (p.Asp1848Gly)
c.5558A>G (p.Asp1853Gly)
c.5738A>G (p.Asp1913Gly)
c.5672A>G (p.Asp1891Gly)
c.5735A>G (p.Asp1912Gly)
c.5732A>G (p.Asp1911Gly)
c.5678A>G (p.Asp1893Gly)
c.5603A>G (p.Asp1868Gly)
c.5198A>G (p.Asp1733Gly)
c.4556A>G (p.Asp1519Gly)
c.2066A>G (p.Asp689Gly)
n.5981A>G
 dbSNP
10g.71784931A>TCA377146525CDH23c.5543A>T (p.Asp1848Val)
c.5558A>T (p.Asp1853Val)
c.5738A>T (p.Asp1913Val)
c.5672A>T (p.Asp1891Val)
c.5735A>T (p.Asp1912Val)
c.5732A>T (p.Asp1911Val)
c.5678A>T (p.Asp1893Val)
c.5603A>T (p.Asp1868Val)
c.5198A>T (p.Asp1733Val)
c.4556A>T (p.Asp1519Val)
c.2066A>T (p.Asp689Val)
n.5981A>T
10g.71784932C>ACA377146534CDH23c.5544C>A (p.Asp1848Glu)
c.5559C>A (p.Asp1853Glu)
c.5739C>A (p.Asp1913Glu)
c.5673C>A (p.Asp1891Glu)
c.5736C>A (p.Asp1912Glu)
c.5733C>A (p.Asp1911Glu)
c.5679C>A (p.Asp1893Glu)
c.5604C>A (p.Asp1868Glu)
c.5199C>A (p.Asp1733Glu)
c.4557C>A (p.Asp1519Glu)
c.2067C>A (p.Asp689Glu)
n.5982C>A
 gnomAD v4
10g.71784932C=CA1918862174CDH23c.5544C= (p.Asp1848=)
c.5559C= (p.Asp1853=)
c.5739C= (p.Asp1913=)
c.5673C= (p.Asp1891=)
c.5736C= (p.Asp1912=)
c.5733C= (p.Asp1911=)
c.5679C= (p.Asp1893=)
c.5604C= (p.Asp1868=)
c.5199C= (p.Asp1733=)
c.4557C= (p.Asp1519=)
c.2067C= (p.Asp689=)
n.5982C=
10g.71784932C>GCA377146536CDH23c.5544C>G (p.Asp1848Glu)
c.5559C>G (p.Asp1853Glu)
c.5739C>G (p.Asp1913Glu)
c.5673C>G (p.Asp1891Glu)
c.5736C>G (p.Asp1912Glu)
c.5733C>G (p.Asp1911Glu)
c.5679C>G (p.Asp1893Glu)
c.5604C>G (p.Asp1868Glu)
c.5199C>G (p.Asp1733Glu)
c.4557C>G (p.Asp1519Glu)
c.2067C>G (p.Asp689Glu)
n.5982C>G
10g.71784932C>TCA137500CDH23c.5544C>T (p.Asp1848=)
c.5559C>T (p.Asp1853=)
c.5739C>T (p.Asp1913=)
c.5673C>T (p.Asp1891=)
c.5736C>T (p.Asp1912=)
c.5733C>T (p.Asp1911=)
c.5679C>T (p.Asp1893=)
c.5604C>T (p.Asp1868=)
c.5199C>T (p.Asp1733=)
c.4557C>T (p.Asp1519=)
c.2067C>T (p.Asp689=)
n.5982C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71784934delCA2695212109CDH23c.5546del (p.Pro1849LeufsTer4)
c.5561del (p.Pro1854LeufsTer4)
c.5741del (p.Pro1914LeufsTer4)
c.5675del (p.Pro1892LeufsTer4)
c.5738del (p.Pro1913LeufsTer4)
c.5735del (p.Pro1912LeufsTer4)
c.5681del (p.Pro1894LeufsTer4)
c.5606del (p.Pro1869LeufsTer4)
c.5201del (p.Pro1734LeufsTer4)
c.4559del (p.Pro1520LeufsTer4)
c.2069del (p.Pro690LeufsTer4)
n.5984del
10g.71784933C>ACA377146538CDH23c.5545C>A (p.Pro1849Thr)
c.5560C>A (p.Pro1854Thr)
c.5740C>A (p.Pro1914Thr)
c.5674C>A (p.Pro1892Thr)
c.5737C>A (p.Pro1913Thr)
c.5734C>A (p.Pro1912Thr)
c.5680C>A (p.Pro1894Thr)
c.5605C>A (p.Pro1869Thr)
c.5200C>A (p.Pro1734Thr)
c.4558C>A (p.Pro1520Thr)
c.2068C>A (p.Pro690Thr)
n.5983C>A
10g.71784933C>GCA377146539CDH23c.5545C>G (p.Pro1849Ala)
c.5560C>G (p.Pro1854Ala)
c.5740C>G (p.Pro1914Ala)
c.5674C>G (p.Pro1892Ala)
c.5737C>G (p.Pro1913Ala)
c.5734C>G (p.Pro1912Ala)
c.5680C>G (p.Pro1894Ala)
c.5605C>G (p.Pro1869Ala)
c.5200C>G (p.Pro1734Ala)
c.4558C>G (p.Pro1520Ala)
c.2068C>G (p.Pro690Ala)
n.5983C>G
 gnomAD v4
10g.71784933C>TCA377146541CDH23c.5545C>T (p.Pro1849Ser)
c.5560C>T (p.Pro1854Ser)
c.5740C>T (p.Pro1914Ser)
c.5674C>T (p.Pro1892Ser)
c.5737C>T (p.Pro1913Ser)
c.5734C>T (p.Pro1912Ser)
c.5680C>T (p.Pro1894Ser)
c.5605C>T (p.Pro1869Ser)
c.5200C>T (p.Pro1734Ser)
c.4558C>T (p.Pro1520Ser)
c.2068C>T (p.Pro690Ser)
n.5983C>T
 COSMIC
10g.71784934C>ACA377146542CDH23c.5546C>A (p.Pro1849His)
c.5561C>A (p.Pro1854His)
c.5741C>A (p.Pro1914His)
c.5675C>A (p.Pro1892His)
c.5738C>A (p.Pro1913His)
c.5735C>A (p.Pro1912His)
c.5681C>A (p.Pro1894His)
c.5606C>A (p.Pro1869His)
c.5201C>A (p.Pro1734His)
c.4559C>A (p.Pro1520His)
c.2069C>A (p.Pro690His)
n.5984C>A
 gnomAD v4
10g.71784934C>GCA377146549CDH23c.5546C>G (p.Pro1849Arg)
c.5561C>G (p.Pro1854Arg)
c.5741C>G (p.Pro1914Arg)
c.5675C>G (p.Pro1892Arg)
c.5738C>G (p.Pro1913Arg)
c.5735C>G (p.Pro1912Arg)
c.5681C>G (p.Pro1894Arg)
c.5606C>G (p.Pro1869Arg)
c.5201C>G (p.Pro1734Arg)
c.4559C>G (p.Pro1520Arg)
c.2069C>G (p.Pro690Arg)
n.5984C>G
10g.71784934C>TCA377146548CDH23c.5546C>T (p.Pro1849Leu)
c.5561C>T (p.Pro1854Leu)
c.5741C>T (p.Pro1914Leu)
c.5675C>T (p.Pro1892Leu)
c.5738C>T (p.Pro1913Leu)
c.5735C>T (p.Pro1912Leu)
c.5681C>T (p.Pro1894Leu)
c.5606C>T (p.Pro1869Leu)
c.5201C>T (p.Pro1734Leu)
c.4559C>T (p.Pro1520Leu)
c.2069C>T (p.Pro690Leu)
n.5984C>T
10g.71784935T>ACA470060704CDH23c.5547T>A (p.Pro1849=)
c.5562T>A (p.Pro1854=)
c.5742T>A (p.Pro1914=)
c.5676T>A (p.Pro1892=)
c.5739T>A (p.Pro1913=)
c.5736T>A (p.Pro1912=)
c.5682T>A (p.Pro1894=)
c.5607T>A (p.Pro1869=)
c.5202T>A (p.Pro1734=)
c.4560T>A (p.Pro1520=)
c.2070T>A (p.Pro690=)
n.5985T>A
 dbSNP
10g.71784935T>CCA470060705CDH23c.5547T>C (p.Pro1849=)
c.5562T>C (p.Pro1854=)
c.5742T>C (p.Pro1914=)
c.5676T>C (p.Pro1892=)
c.5739T>C (p.Pro1913=)
c.5736T>C (p.Pro1912=)
c.5682T>C (p.Pro1894=)
c.5607T>C (p.Pro1869=)
c.5202T>C (p.Pro1734=)
c.4560T>C (p.Pro1520=)
c.2070T>C (p.Pro690=)
n.5985T>C
10g.71784935T>GCA470060706CDH23c.5547T>G (p.Pro1849=)
c.5562T>G (p.Pro1854=)
c.5742T>G (p.Pro1914=)
c.5676T>G (p.Pro1892=)
c.5739T>G (p.Pro1913=)
c.5736T>G (p.Pro1912=)
c.5682T>G (p.Pro1894=)
c.5607T>G (p.Pro1869=)
c.5202T>G (p.Pro1734=)
c.4560T>G (p.Pro1520=)
c.2070T>G (p.Pro690=)
n.5985T>G
10g.71784935T=CA1918862180CDH23c.5547T= (p.Pro1849=)
c.5562T= (p.Pro1854=)
c.5742T= (p.Pro1914=)
c.5676T= (p.Pro1892=)
c.5739T= (p.Pro1913=)
c.5736T= (p.Pro1912=)
c.5682T= (p.Pro1894=)
c.5607T= (p.Pro1869=)
c.5202T= (p.Pro1734=)
c.4560T= (p.Pro1520=)
c.2070T= (p.Pro690=)
n.5985T=
10g.71784936G>ACA377146551CDH23c.5548G>A (p.Val1850Met)
c.5563G>A (p.Val1855Met)
c.5743G>A (p.Val1915Met)
c.5677G>A (p.Val1893Met)
c.5740G>A (p.Val1914Met)
c.5737G>A (p.Val1913Met)
c.5683G>A (p.Val1895Met)
c.5608G>A (p.Val1870Met)
c.5203G>A (p.Val1735Met)
c.4561G>A (p.Val1521Met)
c.2071G>A (p.Val691Met)
n.5986G>A
10g.71784936G>CCA377146552CDH23c.5548G>C (p.Val1850Leu)
c.5563G>C (p.Val1855Leu)
c.5743G>C (p.Val1915Leu)
c.5677G>C (p.Val1893Leu)
c.5740G>C (p.Val1914Leu)
c.5737G>C (p.Val1913Leu)
c.5683G>C (p.Val1895Leu)
c.5608G>C (p.Val1870Leu)
c.5203G>C (p.Val1735Leu)
c.4561G>C (p.Val1521Leu)
c.2071G>C (p.Val691Leu)
n.5986G>C
 gnomAD v4
10g.71784936G>TCA377146554CDH23c.5548G>T (p.Val1850Leu)
c.5563G>T (p.Val1855Leu)
c.5743G>T (p.Val1915Leu)
c.5677G>T (p.Val1893Leu)
c.5740G>T (p.Val1914Leu)
c.5737G>T (p.Val1913Leu)
c.5683G>T (p.Val1895Leu)
c.5608G>T (p.Val1870Leu)
c.5203G>T (p.Val1735Leu)
c.4561G>T (p.Val1521Leu)
c.2071G>T (p.Val691Leu)
n.5986G>T
10g.71784937T>ACA377146555CDH23c.5549T>A (p.Val1850Glu)
c.5564T>A (p.Val1855Glu)
c.5744T>A (p.Val1915Glu)
c.5678T>A (p.Val1893Glu)
c.5741T>A (p.Val1914Glu)
c.5738T>A (p.Val1913Glu)
c.5684T>A (p.Val1895Glu)
c.5609T>A (p.Val1870Glu)
c.5204T>A (p.Val1735Glu)
c.4562T>A (p.Val1521Glu)
c.2072T>A (p.Val691Glu)
n.5987T>A
10g.71784937T>CCA377146557CDH23c.5549T>C (p.Val1850Ala)
c.5564T>C (p.Val1855Ala)
c.5744T>C (p.Val1915Ala)
c.5678T>C (p.Val1893Ala)
c.5741T>C (p.Val1914Ala)
c.5738T>C (p.Val1913Ala)
c.5684T>C (p.Val1895Ala)
c.5609T>C (p.Val1870Ala)
c.5204T>C (p.Val1735Ala)
c.4562T>C (p.Val1521Ala)
c.2072T>C (p.Val691Ala)
n.5987T>C
10g.71784937T>GCA377146559CDH23c.5549T>G (p.Val1850Gly)
c.5564T>G (p.Val1855Gly)
c.5744T>G (p.Val1915Gly)
c.5678T>G (p.Val1893Gly)
c.5741T>G (p.Val1914Gly)
c.5738T>G (p.Val1913Gly)
c.5684T>G (p.Val1895Gly)
c.5609T>G (p.Val1870Gly)
c.5204T>G (p.Val1735Gly)
c.4562T>G (p.Val1521Gly)
c.2072T>G (p.Val691Gly)
n.5987T>G
10g.71784938G>ACA470060707CDH23c.5550G>A (p.Val1850=)
c.5565G>A (p.Val1855=)
c.5745G>A (p.Val1915=)
c.5679G>A (p.Val1893=)
c.5742G>A (p.Val1914=)
c.5739G>A (p.Val1913=)
c.5685G>A (p.Val1895=)
c.5610G>A (p.Val1870=)
c.5205G>A (p.Val1735=)
c.4563G>A (p.Val1521=)
c.2073G>A (p.Val691=)
n.5988G>A
10g.71784938G>CCA470060708CDH23c.5550G>C (p.Val1850=)
c.5565G>C (p.Val1855=)
c.5745G>C (p.Val1915=)
c.5679G>C (p.Val1893=)
c.5742G>C (p.Val1914=)
c.5739G>C (p.Val1913=)
c.5685G>C (p.Val1895=)
c.5610G>C (p.Val1870=)
c.5205G>C (p.Val1735=)
c.4563G>C (p.Val1521=)
c.2073G>C (p.Val691=)
n.5988G>C
10g.71784938G>TCA470060709CDH23c.5550G>T (p.Val1850=)
c.5565G>T (p.Val1855=)
c.5745G>T (p.Val1915=)
c.5679G>T (p.Val1893=)
c.5742G>T (p.Val1914=)
c.5739G>T (p.Val1913=)
c.5685G>T (p.Val1895=)
c.5610G>T (p.Val1870=)
c.5205G>T (p.Val1735=)
c.4563G>T (p.Val1521=)
c.2073G>T (p.Val691=)
n.5988G>T
 gnomAD v4
10g.71784939C>ACA377146560CDH23c.5551C>A (p.Leu1851Met)
c.5566C>A (p.Leu1856Met)
c.5746C>A (p.Leu1916Met)
c.5680C>A (p.Leu1894Met)
c.5743C>A (p.Leu1915Met)
c.5740C>A (p.Leu1914Met)
c.5686C>A (p.Leu1896Met)
c.5611C>A (p.Leu1871Met)
c.5206C>A (p.Leu1736Met)
c.4564C>A (p.Leu1522Met)
c.2074C>A (p.Leu692Met)
n.5989C>A
10g.71784939C=CA1918862184CDH23c.5551C= (p.Leu1851=)
c.5566C= (p.Leu1856=)
c.5746C= (p.Leu1916=)
c.5680C= (p.Leu1894=)
c.5743C= (p.Leu1915=)
c.5740C= (p.Leu1914=)
c.5686C= (p.Leu1896=)
c.5611C= (p.Leu1871=)
c.5206C= (p.Leu1736=)
c.4564C= (p.Leu1522=)
c.2074C= (p.Leu692=)
n.5989C=
10g.71784939C>GCA377146562CDH23c.5551C>G (p.Leu1851Val)
c.5566C>G (p.Leu1856Val)
c.5746C>G (p.Leu1916Val)
c.5680C>G (p.Leu1894Val)
c.5743C>G (p.Leu1915Val)
c.5740C>G (p.Leu1914Val)
c.5686C>G (p.Leu1896Val)
c.5611C>G (p.Leu1871Val)
c.5206C>G (p.Leu1736Val)
c.4564C>G (p.Leu1522Val)
c.2074C>G (p.Leu692Val)
n.5989C>G
10g.71784939C>TCA470060710CDH23c.5551C>T (p.Leu1851=)
c.5566C>T (p.Leu1856=)
c.5746C>T (p.Leu1916=)
c.5680C>T (p.Leu1894=)
c.5743C>T (p.Leu1915=)
c.5740C>T (p.Leu1914=)
c.5686C>T (p.Leu1896=)
c.5611C>T (p.Leu1871=)
c.5206C>T (p.Leu1736=)
c.4564C>T (p.Leu1522=)
c.2074C>T (p.Leu692=)
n.5989C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71784940T>ACA377146563CDH23c.5552T>A (p.Leu1851Gln)
c.5567T>A (p.Leu1856Gln)
c.5747T>A (p.Leu1916Gln)
c.5681T>A (p.Leu1894Gln)
c.5744T>A (p.Leu1915Gln)
c.5741T>A (p.Leu1914Gln)
c.5687T>A (p.Leu1896Gln)
c.5612T>A (p.Leu1871Gln)
c.5207T>A (p.Leu1736Gln)
c.4565T>A (p.Leu1522Gln)
c.2075T>A (p.Leu692Gln)
n.5990T>A
10g.71784940T>CCA377146564CDH23c.5552T>C (p.Leu1851Pro)
c.5567T>C (p.Leu1856Pro)
c.5747T>C (p.Leu1916Pro)
c.5681T>C (p.Leu1894Pro)
c.5744T>C (p.Leu1915Pro)
c.5741T>C (p.Leu1914Pro)
c.5687T>C (p.Leu1896Pro)
c.5612T>C (p.Leu1871Pro)
c.5207T>C (p.Leu1736Pro)
c.4565T>C (p.Leu1522Pro)
c.2075T>C (p.Leu692Pro)
n.5990T>C
10g.71784940T>GCA377146565CDH23c.5552T>G (p.Leu1851Arg)
c.5567T>G (p.Leu1856Arg)
c.5747T>G (p.Leu1916Arg)
c.5681T>G (p.Leu1894Arg)
c.5744T>G (p.Leu1915Arg)
c.5741T>G (p.Leu1914Arg)
c.5687T>G (p.Leu1896Arg)
c.5612T>G (p.Leu1871Arg)
c.5207T>G (p.Leu1736Arg)
c.4565T>G (p.Leu1522Arg)
c.2075T>G (p.Leu692Arg)
n.5990T>G
10g.71784941G>ACA470060711CDH23c.5553G>A (p.Leu1851=)
c.5568G>A (p.Leu1856=)
c.5748G>A (p.Leu1916=)
c.5682G>A (p.Leu1894=)
c.5745G>A (p.Leu1915=)
c.5742G>A (p.Leu1914=)
c.5688G>A (p.Leu1896=)
c.5613G>A (p.Leu1871=)
c.5208G>A (p.Leu1736=)
c.4566G>A (p.Leu1522=)
c.2076G>A (p.Leu692=)
n.5991G>A
 dbSNP gnomAD v4
10g.71784941G>CCA470060712CDH23c.5553G>C (p.Leu1851=)
c.5568G>C (p.Leu1856=)
c.5748G>C (p.Leu1916=)
c.5682G>C (p.Leu1894=)
c.5745G>C (p.Leu1915=)
c.5742G>C (p.Leu1914=)
c.5688G>C (p.Leu1896=)
c.5613G>C (p.Leu1871=)
c.5208G>C (p.Leu1736=)
c.4566G>C (p.Leu1522=)
c.2076G>C (p.Leu692=)
n.5991G>C
10g.71784941G=CA1918862189CDH23c.5553G= (p.Leu1851=)
c.5568G= (p.Leu1856=)
c.5748G= (p.Leu1916=)
c.5682G= (p.Leu1894=)
c.5745G= (p.Leu1915=)
c.5742G= (p.Leu1914=)
c.5688G= (p.Leu1896=)
c.5613G= (p.Leu1871=)
c.5208G= (p.Leu1736=)
c.4566G= (p.Leu1522=)
c.2076G= (p.Leu692=)
n.5991G=
10g.71784941G>TCA470060713CDH23c.5553G>T (p.Leu1851=)
c.5568G>T (p.Leu1856=)
c.5748G>T (p.Leu1916=)
c.5682G>T (p.Leu1894=)
c.5745G>T (p.Leu1915=)
c.5742G>T (p.Leu1914=)
c.5688G>T (p.Leu1896=)
c.5613G>T (p.Leu1871=)
c.5208G>T (p.Leu1736=)
c.4566G>T (p.Leu1522=)
c.2076G>T (p.Leu692=)
n.5991G>T
 dbSNP
10g.71784942C>ACA377146567CDH23c.5554C>A (p.Leu1852Met)
c.5569C>A (p.Leu1857Met)
c.5749C>A (p.Leu1917Met)
c.5683C>A (p.Leu1895Met)
c.5746C>A (p.Leu1916Met)
c.5743C>A (p.Leu1915Met)
c.5689C>A (p.Leu1897Met)
c.5614C>A (p.Leu1872Met)
c.5209C>A (p.Leu1737Met)
c.4567C>A (p.Leu1523Met)
c.2077C>A (p.Leu693Met)
n.5992C>A
10g.71784942C>GCA377146568CDH23c.5554C>G (p.Leu1852Val)
c.5569C>G (p.Leu1857Val)
c.5749C>G (p.Leu1917Val)
c.5683C>G (p.Leu1895Val)
c.5746C>G (p.Leu1916Val)
c.5743C>G (p.Leu1915Val)
c.5689C>G (p.Leu1897Val)
c.5614C>G (p.Leu1872Val)
c.5209C>G (p.Leu1737Val)
c.4567C>G (p.Leu1523Val)
c.2077C>G (p.Leu693Val)
n.5992C>G
10g.71784942C>TCA470060714CDH23c.5554C>T (p.Leu1852=)
c.5569C>T (p.Leu1857=)
c.5749C>T (p.Leu1917=)
c.5683C>T (p.Leu1895=)
c.5746C>T (p.Leu1916=)
c.5743C>T (p.Leu1915=)
c.5689C>T (p.Leu1897=)
c.5614C>T (p.Leu1872=)
c.5209C>T (p.Leu1737=)
c.4567C>T (p.Leu1523=)
c.2077C>T (p.Leu693=)
n.5992C>T
10g.71784943T>ACA377146569CDH23c.5555T>A (p.Leu1852Gln)
c.5570T>A (p.Leu1857Gln)
c.5750T>A (p.Leu1917Gln)
c.5684T>A (p.Leu1895Gln)
c.5747T>A (p.Leu1916Gln)
c.5744T>A (p.Leu1915Gln)
c.5690T>A (p.Leu1897Gln)
c.5615T>A (p.Leu1872Gln)
c.5210T>A (p.Leu1737Gln)
c.4568T>A (p.Leu1523Gln)
c.2078T>A (p.Leu693Gln)
n.5993T>A
10g.71784943T>CCA377146570CDH23c.5555T>C (p.Leu1852Pro)
c.5570T>C (p.Leu1857Pro)
c.5750T>C (p.Leu1917Pro)
c.5684T>C (p.Leu1895Pro)
c.5747T>C (p.Leu1916Pro)
c.5744T>C (p.Leu1915Pro)
c.5690T>C (p.Leu1897Pro)
c.5615T>C (p.Leu1872Pro)
c.5210T>C (p.Leu1737Pro)
c.4568T>C (p.Leu1523Pro)
c.2078T>C (p.Leu693Pro)
n.5993T>C
10g.71784943T>GCA377146571CDH23c.5555T>G (p.Leu1852Arg)
c.5570T>G (p.Leu1857Arg)
c.5750T>G (p.Leu1917Arg)
c.5684T>G (p.Leu1895Arg)
c.5747T>G (p.Leu1916Arg)
c.5744T>G (p.Leu1915Arg)
c.5690T>G (p.Leu1897Arg)
c.5615T>G (p.Leu1872Arg)
c.5210T>G (p.Leu1737Arg)
c.4568T>G (p.Leu1523Arg)
c.2078T>G (p.Leu693Arg)
n.5993T>G
10g.71784944G>ACA470060715CDH23c.5556G>A (p.Leu1852=)
c.5571G>A (p.Leu1857=)
c.5751G>A (p.Leu1917=)
c.5685G>A (p.Leu1895=)
c.5748G>A (p.Leu1916=)
c.5745G>A (p.Leu1915=)
c.5691G>A (p.Leu1897=)
c.5616G>A (p.Leu1872=)
c.5211G>A (p.Leu1737=)
c.4569G>A (p.Leu1523=)
c.2079G>A (p.Leu693=)
n.5994G>A
10g.71784944G>CCA470060716CDH23c.5556G>C (p.Leu1852=)
c.5571G>C (p.Leu1857=)
c.5751G>C (p.Leu1917=)
c.5685G>C (p.Leu1895=)
c.5748G>C (p.Leu1916=)
c.5745G>C (p.Leu1915=)
c.5691G>C (p.Leu1897=)
c.5616G>C (p.Leu1872=)
c.5211G>C (p.Leu1737=)
c.4569G>C (p.Leu1523=)
c.2079G>C (p.Leu693=)
n.5994G>C
10g.71784944G>TCA470060717CDH23c.5556G>T (p.Leu1852=)
c.5571G>T (p.Leu1857=)
c.5751G>T (p.Leu1917=)
c.5685G>T (p.Leu1895=)
c.5748G>T (p.Leu1916=)
c.5745G>T (p.Leu1915=)
c.5691G>T (p.Leu1897=)
c.5616G>T (p.Leu1872=)
c.5211G>T (p.Leu1737=)
c.4569G>T (p.Leu1523=)
c.2079G>T (p.Leu693=)
n.5994G>T
10g.71784945A>CCA377146572CDH23c.5557A>C (p.Asn1853His)
c.5572A>C (p.Asn1858His)
c.5752A>C (p.Asn1918His)
c.5686A>C (p.Asn1896His)
c.5749A>C (p.Asn1917His)
c.5746A>C (p.Asn1916His)
c.5692A>C (p.Asn1898His)
c.5617A>C (p.Asn1873His)
c.5212A>C (p.Asn1738His)
c.4570A>C (p.Asn1524His)
c.2080A>C (p.Asn694His)
n.5995A>C
10g.71784945A>GCA377146574CDH23c.5557A>G (p.Asn1853Asp)
c.5572A>G (p.Asn1858Asp)
c.5752A>G (p.Asn1918Asp)
c.5686A>G (p.Asn1896Asp)
c.5749A>G (p.Asn1917Asp)
c.5746A>G (p.Asn1916Asp)
c.5692A>G (p.Asn1898Asp)
c.5617A>G (p.Asn1873Asp)
c.5212A>G (p.Asn1738Asp)
c.4570A>G (p.Asn1524Asp)
c.2080A>G (p.Asn694Asp)
n.5995A>G
10g.71784945A>TCA377146575CDH23c.5557A>T (p.Asn1853Tyr)
c.5572A>T (p.Asn1858Tyr)
c.5752A>T (p.Asn1918Tyr)
c.5686A>T (p.Asn1896Tyr)
c.5749A>T (p.Asn1917Tyr)
c.5746A>T (p.Asn1916Tyr)
c.5692A>T (p.Asn1898Tyr)
c.5617A>T (p.Asn1873Tyr)
c.5212A>T (p.Asn1738Tyr)
c.4570A>T (p.Asn1524Tyr)
c.2080A>T (p.Asn694Tyr)
n.5995A>T
10g.71784946A>CCA377146578CDH23c.5558A>C (p.Asn1853Thr)
c.5573A>C (p.Asn1858Thr)
c.5753A>C (p.Asn1918Thr)
c.5687A>C (p.Asn1896Thr)
c.5750A>C (p.Asn1917Thr)
c.5747A>C (p.Asn1916Thr)
c.5693A>C (p.Asn1898Thr)
c.5618A>C (p.Asn1873Thr)
c.5213A>C (p.Asn1738Thr)
c.4571A>C (p.Asn1524Thr)
c.2081A>C (p.Asn694Thr)
n.5996A>C
10g.71784946A>GCA377146579CDH23c.5558A>G (p.Asn1853Ser)
c.5573A>G (p.Asn1858Ser)
c.5753A>G (p.Asn1918Ser)
c.5687A>G (p.Asn1896Ser)
c.5750A>G (p.Asn1917Ser)
c.5747A>G (p.Asn1916Ser)
c.5693A>G (p.Asn1898Ser)
c.5618A>G (p.Asn1873Ser)
c.5213A>G (p.Asn1738Ser)
c.4571A>G (p.Asn1524Ser)
c.2081A>G (p.Asn694Ser)
n.5996A>G
10g.71784946A>TCA377146580CDH23c.5558A>T (p.Asn1853Ile)
c.5573A>T (p.Asn1858Ile)
c.5753A>T (p.Asn1918Ile)
c.5687A>T (p.Asn1896Ile)
c.5750A>T (p.Asn1917Ile)
c.5747A>T (p.Asn1916Ile)
c.5693A>T (p.Asn1898Ile)
c.5618A>T (p.Asn1873Ile)
c.5213A>T (p.Asn1738Ile)
c.4571A>T (p.Asn1524Ile)
c.2081A>T (p.Asn694Ile)
n.5996A>T
 gnomAD v4
10g.71784947C>ACA377146581CDH23c.5559C>A (p.Asn1853Lys)
c.5574C>A (p.Asn1858Lys)
c.5754C>A (p.Asn1918Lys)
c.5688C>A (p.Asn1896Lys)
c.5751C>A (p.Asn1917Lys)
c.5748C>A (p.Asn1916Lys)
c.5694C>A (p.Asn1898Lys)
c.5619C>A (p.Asn1873Lys)
c.5214C>A (p.Asn1738Lys)
c.4572C>A (p.Asn1524Lys)
c.2082C>A (p.Asn694Lys)
n.5997C>A
 gnomAD v4
10g.71784947C>GCA377146583CDH23c.5559C>G (p.Asn1853Lys)
c.5574C>G (p.Asn1858Lys)
c.5754C>G (p.Asn1918Lys)
c.5688C>G (p.Asn1896Lys)
c.5751C>G (p.Asn1917Lys)
c.5748C>G (p.Asn1916Lys)
c.5694C>G (p.Asn1898Lys)
c.5619C>G (p.Asn1873Lys)
c.5214C>G (p.Asn1738Lys)
c.4572C>G (p.Asn1524Lys)
c.2082C>G (p.Asn694Lys)
n.5997C>G
10g.71784947C>TCA470060718CDH23c.5559C>T (p.Asn1853=)
c.5574C>T (p.Asn1858=)
c.5754C>T (p.Asn1918=)
c.5688C>T (p.Asn1896=)
c.5751C>T (p.Asn1917=)
c.5748C>T (p.Asn1916=)
c.5694C>T (p.Asn1898=)
c.5619C>T (p.Asn1873=)
c.5214C>T (p.Asn1738=)
c.4572C>T (p.Asn1524=)
c.2082C>T (p.Asn694=)
n.5997C>T
10g.71784948C>ACA209457459CDH23c.5560C>A (p.Leu1854Met)
c.5575C>A (p.Leu1859Met)
c.5755C>A (p.Leu1919Met)
c.5689C>A (p.Leu1897Met)
c.5752C>A (p.Leu1918Met)
c.5749C>A (p.Leu1917Met)
c.5695C>A (p.Leu1899Met)
c.5620C>A (p.Leu1874Met)
c.5215C>A (p.Leu1739Met)
c.4573C>A (p.Leu1525Met)
c.2083C>A (p.Leu695Met)
n.5998C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71784948C=CA1918862197CDH23c.5560C= (p.Leu1854=)
c.5575C= (p.Leu1859=)
c.5755C= (p.Leu1919=)
c.5689C= (p.Leu1897=)
c.5752C= (p.Leu1918=)
c.5749C= (p.Leu1917=)
c.5695C= (p.Leu1899=)
c.5620C= (p.Leu1874=)
c.5215C= (p.Leu1739=)
c.4573C= (p.Leu1525=)
c.2083C= (p.Leu695=)
n.5998C=
10g.71784948C>GCA377146585CDH23c.5560C>G (p.Leu1854Val)
c.5575C>G (p.Leu1859Val)
c.5755C>G (p.Leu1919Val)
c.5689C>G (p.Leu1897Val)
c.5752C>G (p.Leu1918Val)
c.5749C>G (p.Leu1917Val)
c.5695C>G (p.Leu1899Val)
c.5620C>G (p.Leu1874Val)
c.5215C>G (p.Leu1739Val)
c.4573C>G (p.Leu1525Val)
c.2083C>G (p.Leu695Val)
n.5998C>G
 dbSNP
10g.71784948C>TCA470060719CDH23c.5560C>T (p.Leu1854=)
c.5575C>T (p.Leu1859=)
c.5755C>T (p.Leu1919=)
c.5689C>T (p.Leu1897=)
c.5752C>T (p.Leu1918=)
c.5749C>T (p.Leu1917=)
c.5695C>T (p.Leu1899=)
c.5620C>T (p.Leu1874=)
c.5215C>T (p.Leu1739=)
c.4573C>T (p.Leu1525=)
c.2083C>T (p.Leu695=)
n.5998C>T
10g.71784949T>ACA377146591CDH23c.5561T>A (p.Leu1854Gln)
c.5576T>A (p.Leu1859Gln)
c.5756T>A (p.Leu1919Gln)
c.5690T>A (p.Leu1897Gln)
c.5753T>A (p.Leu1918Gln)
c.5750T>A (p.Leu1917Gln)
c.5696T>A (p.Leu1899Gln)
c.5621T>A (p.Leu1874Gln)
c.5216T>A (p.Leu1739Gln)
c.4574T>A (p.Leu1525Gln)
c.2084T>A (p.Leu695Gln)
n.5999T>A
10g.71784949T>CCA377146587CDH23c.5561T>C (p.Leu1854Pro)
c.5576T>C (p.Leu1859Pro)
c.5756T>C (p.Leu1919Pro)
c.5690T>C (p.Leu1897Pro)
c.5753T>C (p.Leu1918Pro)
c.5750T>C (p.Leu1917Pro)
c.5696T>C (p.Leu1899Pro)
c.5621T>C (p.Leu1874Pro)
c.5216T>C (p.Leu1739Pro)
c.4574T>C (p.Leu1525Pro)
c.2084T>C (p.Leu695Pro)
n.5999T>C
10g.71784949T>GCA377146589CDH23c.5561T>G (p.Leu1854Arg)
c.5576T>G (p.Leu1859Arg)
c.5756T>G (p.Leu1919Arg)
c.5690T>G (p.Leu1897Arg)
c.5753T>G (p.Leu1918Arg)
c.5750T>G (p.Leu1917Arg)
c.5696T>G (p.Leu1899Arg)
c.5621T>G (p.Leu1874Arg)
c.5216T>G (p.Leu1739Arg)
c.4574T>G (p.Leu1525Arg)
c.2084T>G (p.Leu695Arg)
n.5999T>G
10g.71784950G>ACA470060720CDH23c.5562G>A (p.Leu1854=)
c.5577G>A (p.Leu1859=)
c.5757G>A (p.Leu1919=)
c.5691G>A (p.Leu1897=)
c.5754G>A (p.Leu1918=)
c.5751G>A (p.Leu1917=)
c.5697G>A (p.Leu1899=)
c.5622G>A (p.Leu1874=)
c.5217G>A (p.Leu1739=)
c.4575G>A (p.Leu1525=)
c.2085G>A (p.Leu695=)
n.6000G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71784950G>CCA470060721CDH23c.5562G>C (p.Leu1854=)
c.5577G>C (p.Leu1859=)
c.5757G>C (p.Leu1919=)
c.5691G>C (p.Leu1897=)
c.5754G>C (p.Leu1918=)
c.5751G>C (p.Leu1917=)
c.5697G>C (p.Leu1899=)
c.5622G>C (p.Leu1874=)
c.5217G>C (p.Leu1739=)
c.4575G>C (p.Leu1525=)
c.2085G>C (p.Leu695=)
n.6000G>C
10g.71784950G=CA1918862204CDH23c.5562G= (p.Leu1854=)
c.5577G= (p.Leu1859=)
c.5757G= (p.Leu1919=)
c.5691G= (p.Leu1897=)
c.5754G= (p.Leu1918=)
c.5751G= (p.Leu1917=)
c.5697G= (p.Leu1899=)
c.5622G= (p.Leu1874=)
c.5217G= (p.Leu1739=)
c.4575G= (p.Leu1525=)
c.2085G= (p.Leu695=)
n.6000G=
10g.71784950G>TCA470060722CDH23c.5562G>T (p.Leu1854=)
c.5577G>T (p.Leu1859=)
c.5757G>T (p.Leu1919=)
c.5691G>T (p.Leu1897=)
c.5754G>T (p.Leu1918=)
c.5751G>T (p.Leu1917=)
c.5697G>T (p.Leu1899=)
c.5622G>T (p.Leu1874=)
c.5217G>T (p.Leu1739=)
c.4575G>T (p.Leu1525=)
c.2085G>T (p.Leu695=)
n.6000G>T
10g.71784951C>ACA377146593CDH23c.5563C>A (p.Pro1855Thr)
c.5578C>A (p.Pro1860Thr)
c.5758C>A (p.Pro1920Thr)
c.5692C>A (p.Pro1898Thr)
c.5755C>A (p.Pro1919Thr)
c.5752C>A (p.Pro1918Thr)
c.5698C>A (p.Pro1900Thr)
c.5623C>A (p.Pro1875Thr)
c.5218C>A (p.Pro1740Thr)
c.4576C>A (p.Pro1526Thr)
c.2086C>A (p.Pro696Thr)
n.6001C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71784951C=CA1918862210CDH23c.5563C= (p.Pro1855=)
c.5578C= (p.Pro1860=)
c.5758C= (p.Pro1920=)
c.5692C= (p.Pro1898=)
c.5755C= (p.Pro1919=)
c.5752C= (p.Pro1918=)
c.5698C= (p.Pro1900=)
c.5623C= (p.Pro1875=)
c.5218C= (p.Pro1740=)
c.4576C= (p.Pro1526=)
c.2086C= (p.Pro696=)
n.6001C=
10g.71784951C>GCA377146594CDH23c.5563C>G (p.Pro1855Ala)
c.5578C>G (p.Pro1860Ala)
c.5758C>G (p.Pro1920Ala)
c.5692C>G (p.Pro1898Ala)
c.5755C>G (p.Pro1919Ala)
c.5752C>G (p.Pro1918Ala)
c.5698C>G (p.Pro1900Ala)
c.5623C>G (p.Pro1875Ala)
c.5218C>G (p.Pro1740Ala)
c.4576C>G (p.Pro1526Ala)
c.2086C>G (p.Pro696Ala)
n.6001C>G
10g.71784951C>TCA209457485CDH23c.5563C>T (p.Pro1855Ser)
c.5578C>T (p.Pro1860Ser)
c.5758C>T (p.Pro1920Ser)
c.5692C>T (p.Pro1898Ser)
c.5755C>T (p.Pro1919Ser)
c.5752C>T (p.Pro1918Ser)
c.5698C>T (p.Pro1900Ser)
c.5623C>T (p.Pro1875Ser)
c.5218C>T (p.Pro1740Ser)
c.4576C>T (p.Pro1526Ser)
c.2086C>T (p.Pro696Ser)
n.6001C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71784952C>ACA377146597CDH23c.5564C>A (p.Pro1855His)
c.5579C>A (p.Pro1860His)
c.5759C>A (p.Pro1920His)
c.5693C>A (p.Pro1898His)
c.5756C>A (p.Pro1919His)
c.5753C>A (p.Pro1918His)
c.5699C>A (p.Pro1900His)
c.5624C>A (p.Pro1875His)
c.5219C>A (p.Pro1740His)
c.4577C>A (p.Pro1526His)
c.2087C>A (p.Pro696His)
n.6002C>A
10g.71784952C>GCA377146598CDH23c.5564C>G (p.Pro1855Arg)
c.5579C>G (p.Pro1860Arg)
c.5759C>G (p.Pro1920Arg)
c.5693C>G (p.Pro1898Arg)
c.5756C>G (p.Pro1919Arg)
c.5753C>G (p.Pro1918Arg)
c.5699C>G (p.Pro1900Arg)
c.5624C>G (p.Pro1875Arg)
c.5219C>G (p.Pro1740Arg)
c.4577C>G (p.Pro1526Arg)
c.2087C>G (p.Pro696Arg)
n.6002C>G
10g.71784952C>TCA377146600CDH23c.5564C>T (p.Pro1855Leu)
c.5579C>T (p.Pro1860Leu)
c.5759C>T (p.Pro1920Leu)
c.5693C>T (p.Pro1898Leu)
c.5756C>T (p.Pro1919Leu)
c.5753C>T (p.Pro1918Leu)
c.5699C>T (p.Pro1900Leu)
c.5624C>T (p.Pro1875Leu)
c.5219C>T (p.Pro1740Leu)
c.4577C>T (p.Pro1526Leu)
c.2087C>T (p.Pro696Leu)
n.6002C>T
10g.71784953C>ACA470060723CDH23c.5565C>A (p.Pro1855=)
c.5580C>A (p.Pro1860=)
c.5760C>A (p.Pro1920=)
c.5694C>A (p.Pro1898=)
c.5757C>A (p.Pro1919=)
c.5754C>A (p.Pro1918=)
c.5700C>A (p.Pro1900=)
c.5625C>A (p.Pro1875=)
c.5220C>A (p.Pro1740=)
c.4578C>A (p.Pro1526=)
c.2088C>A (p.Pro696=)
n.6003C>A
 COSMIC
10g.71784953C>GCA470060725CDH23c.5565C>G (p.Pro1855=)
c.5580C>G (p.Pro1860=)
c.5760C>G (p.Pro1920=)
c.5694C>G (p.Pro1898=)
c.5757C>G (p.Pro1919=)
c.5754C>G (p.Pro1918=)
c.5700C>G (p.Pro1900=)
c.5625C>G (p.Pro1875=)
c.5220C>G (p.Pro1740=)
c.4578C>G (p.Pro1526=)
c.2088C>G (p.Pro696=)
n.6003C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71784953C>TCA470060724CDH23c.5565C>T (p.Pro1855=)
c.5580C>T (p.Pro1860=)
c.5760C>T (p.Pro1920=)
c.5694C>T (p.Pro1898=)
c.5757C>T (p.Pro1919=)
c.5754C>T (p.Pro1918=)
c.5700C>T (p.Pro1900=)
c.5625C>T (p.Pro1875=)
c.5220C>T (p.Pro1740=)
c.4578C>T (p.Pro1526=)
c.2088C>T (p.Pro696=)
n.6003C>T
10g.71784954A=CA1918862214CDH23c.5566A= (p.Met1856=)
c.5581A= (p.Met1861=)
c.5761A= (p.Met1921=)
c.5695A= (p.Met1899=)
c.5758A= (p.Met1920=)
c.5755A= (p.Met1919=)
c.5701A= (p.Met1901=)
c.5626A= (p.Met1876=)
c.5221A= (p.Met1741=)
c.4579A= (p.Met1527=)
c.2089A= (p.Met697=)
n.6004A=
10g.71784954A>CCA377146601CDH23c.5566A>C (p.Met1856Leu)
c.5581A>C (p.Met1861Leu)
c.5761A>C (p.Met1921Leu)
c.5695A>C (p.Met1899Leu)
c.5758A>C (p.Met1920Leu)
c.5755A>C (p.Met1919Leu)
c.5701A>C (p.Met1901Leu)
c.5626A>C (p.Met1876Leu)
c.5221A>C (p.Met1741Leu)
c.4579A>C (p.Met1527Leu)
c.2089A>C (p.Met697Leu)
n.6004A>C
10g.71784954A>GCA377146602CDH23c.5566A>G (p.Met1856Val)
c.5581A>G (p.Met1861Val)
c.5761A>G (p.Met1921Val)
c.5695A>G (p.Met1899Val)
c.5758A>G (p.Met1920Val)
c.5755A>G (p.Met1919Val)
c.5701A>G (p.Met1901Val)
c.5626A>G (p.Met1876Val)
c.5221A>G (p.Met1741Val)
c.4579A>G (p.Met1527Val)
c.2089A>G (p.Met697Val)
n.6004A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71784954A>TCA377146603CDH23c.5566A>T (p.Met1856Leu)
c.5581A>T (p.Met1861Leu)
c.5761A>T (p.Met1921Leu)
c.5695A>T (p.Met1899Leu)
c.5758A>T (p.Met1920Leu)
c.5755A>T (p.Met1919Leu)
c.5701A>T (p.Met1901Leu)
c.5626A>T (p.Met1876Leu)
c.5221A>T (p.Met1741Leu)
c.4579A>T (p.Met1527Leu)
c.2089A>T (p.Met697Leu)
n.6004A>T
10g.71784955T>ACA377146604CDH23c.5567T>A (p.Met1856Lys)
c.5582T>A (p.Met1861Lys)
c.5762T>A (p.Met1921Lys)
c.5696T>A (p.Met1899Lys)
c.5759T>A (p.Met1920Lys)
c.5756T>A (p.Met1919Lys)
c.5702T>A (p.Met1901Lys)
c.5627T>A (p.Met1876Lys)
c.5222T>A (p.Met1741Lys)
c.4580T>A (p.Met1527Lys)
c.2090T>A (p.Met697Lys)
n.6005T>A
10g.71784955T>CCA209457493CDH23c.5567T>C (p.Met1856Thr)
c.5582T>C (p.Met1861Thr)
c.5762T>C (p.Met1921Thr)
c.5696T>C (p.Met1899Thr)
c.5759T>C (p.Met1920Thr)
c.5756T>C (p.Met1919Thr)
c.5702T>C (p.Met1901Thr)
c.5627T>C (p.Met1876Thr)
c.5222T>C (p.Met1741Thr)
c.4580T>C (p.Met1527Thr)
c.2090T>C (p.Met697Thr)
n.6005T>C
 dbSNP
10g.71784955T>GCA377146606CDH23c.5567T>G (p.Met1856Arg)
c.5582T>G (p.Met1861Arg)
c.5762T>G (p.Met1921Arg)
c.5696T>G (p.Met1899Arg)
c.5759T>G (p.Met1920Arg)
c.5756T>G (p.Met1919Arg)
c.5702T>G (p.Met1901Arg)
c.5627T>G (p.Met1876Arg)
c.5222T>G (p.Met1741Arg)
c.4580T>G (p.Met1527Arg)
c.2090T>G (p.Met697Arg)
n.6005T>G
10g.71784955T=CA1918862218CDH23c.5567T= (p.Met1856=)
c.5582T= (p.Met1861=)
c.5762T= (p.Met1921=)
c.5696T= (p.Met1899=)
c.5759T= (p.Met1920=)
c.5756T= (p.Met1919=)
c.5702T= (p.Met1901=)
c.5627T= (p.Met1876=)
c.5222T= (p.Met1741=)
c.4580T= (p.Met1527=)
c.2090T= (p.Met697=)
n.6005T=
10g.71784956G>ACA377146610CDH23c.5568G>A (p.Met1856Ile)
c.5583G>A (p.Met1861Ile)
c.5763G>A (p.Met1921Ile)
c.5697G>A (p.Met1899Ile)
c.5760G>A (p.Met1920Ile)
c.5757G>A (p.Met1919Ile)
c.5703G>A (p.Met1901Ile)
c.5628G>A (p.Met1876Ile)
c.5223G>A (p.Met1741Ile)
c.4581G>A (p.Met1527Ile)
c.2091G>A (p.Met697Ile)
n.6006G>A
 dbSNP
10g.71784956G>CCA377146611CDH23c.5568G>C (p.Met1856Ile)
c.5583G>C (p.Met1861Ile)
c.5763G>C (p.Met1921Ile)
c.5697G>C (p.Met1899Ile)
c.5760G>C (p.Met1920Ile)
c.5757G>C (p.Met1919Ile)
c.5703G>C (p.Met1901Ile)
c.5628G>C (p.Met1876Ile)
c.5223G>C (p.Met1741Ile)
c.4581G>C (p.Met1527Ile)
c.2091G>C (p.Met697Ile)
n.6006G>C
10g.71784956G>TCA377146608CDH23c.5568G>T (p.Met1856Ile)
c.5583G>T (p.Met1861Ile)
c.5763G>T (p.Met1921Ile)
c.5697G>T (p.Met1899Ile)
c.5760G>T (p.Met1920Ile)
c.5757G>T (p.Met1919Ile)
c.5703G>T (p.Met1901Ile)
c.5628G>T (p.Met1876Ile)
c.5223G>T (p.Met1741Ile)
c.4581G>T (p.Met1527Ile)
c.2091G>T (p.Met697Ile)
n.6006G>T
10g.71784957A>CCA377146614CDH23c.5569A>C (p.Asn1857His)
c.5584A>C (p.Asn1862His)
c.5764A>C (p.Asn1922His)
c.5698A>C (p.Asn1900His)
c.5761A>C (p.Asn1921His)
c.5758A>C (p.Asn1920His)
c.5704A>C (p.Asn1902His)
c.5629A>C (p.Asn1877His)
c.5224A>C (p.Asn1742His)
c.4582A>C (p.Asn1528His)
c.2092A>C (p.Asn698His)
n.6007A>C
10g.71784957A>GCA377146613CDH23c.5569A>G (p.Asn1857Asp)
c.5584A>G (p.Asn1862Asp)
c.5764A>G (p.Asn1922Asp)
c.5698A>G (p.Asn1900Asp)
c.5761A>G (p.Asn1921Asp)
c.5758A>G (p.Asn1920Asp)
c.5704A>G (p.Asn1902Asp)
c.5629A>G (p.Asn1877Asp)
c.5224A>G (p.Asn1742Asp)
c.4582A>G (p.Asn1528Asp)
c.2092A>G (p.Asn698Asp)
n.6007A>G
 COSMIC
10g.71784957A>TCA377146616CDH23c.5569A>T (p.Asn1857Tyr)
c.5584A>T (p.Asn1862Tyr)
c.5764A>T (p.Asn1922Tyr)
c.5698A>T (p.Asn1900Tyr)
c.5761A>T (p.Asn1921Tyr)
c.5758A>T (p.Asn1920Tyr)
c.5704A>T (p.Asn1902Tyr)
c.5629A>T (p.Asn1877Tyr)
c.5224A>T (p.Asn1742Tyr)
c.4582A>T (p.Asn1528Tyr)
c.2092A>T (p.Asn698Tyr)
n.6007A>T
10g.71784958A=CA1918862235CDH23c.5570A= (p.Asn1857=)
c.5585A= (p.Asn1862=)
c.5765A= (p.Asn1922=)
c.5699A= (p.Asn1900=)
c.5762A= (p.Asn1921=)
c.5759A= (p.Asn1920=)
c.5705A= (p.Asn1902=)
c.5630A= (p.Asn1877=)
c.5225A= (p.Asn1742=)
c.4583A= (p.Asn1528=)
c.2093A= (p.Asn698=)
n.6008A=
10g.71784958A>CCA377146618CDH23c.5570A>C (p.Asn1857Thr)
c.5585A>C (p.Asn1862Thr)
c.5765A>C (p.Asn1922Thr)
c.5699A>C (p.Asn1900Thr)
c.5762A>C (p.Asn1921Thr)
c.5759A>C (p.Asn1920Thr)
c.5705A>C (p.Asn1902Thr)
c.5630A>C (p.Asn1877Thr)
c.5225A>C (p.Asn1742Thr)
c.4583A>C (p.Asn1528Thr)
c.2093A>C (p.Asn698Thr)
n.6008A>C
 gnomAD v4
10g.71784958A>GCA5545809CDH23c.5570A>G (p.Asn1857Ser)
c.5585A>G (p.Asn1862Ser)
c.5765A>G (p.Asn1922Ser)
c.5699A>G (p.Asn1900Ser)
c.5762A>G (p.Asn1921Ser)
c.5759A>G (p.Asn1920Ser)
c.5705A>G (p.Asn1902Ser)
c.5630A>G (p.Asn1877Ser)
c.5225A>G (p.Asn1742Ser)
c.4583A>G (p.Asn1528Ser)
c.2093A>G (p.Asn698Ser)
n.6008A>G
 dbSNP ExAC gnomAD v2
10g.71784958A>TCA377146621CDH23c.5570A>T (p.Asn1857Ile)
c.5585A>T (p.Asn1862Ile)
c.5765A>T (p.Asn1922Ile)
c.5699A>T (p.Asn1900Ile)
c.5762A>T (p.Asn1921Ile)
c.5759A>T (p.Asn1920Ile)
c.5705A>T (p.Asn1902Ile)
c.5630A>T (p.Asn1877Ile)
c.5225A>T (p.Asn1742Ile)
c.4583A>T (p.Asn1528Ile)
c.2093A>T (p.Asn698Ile)
n.6008A>T
10g.71784959C>ACA377146622CDH23c.5571C>A (p.Asn1857Lys)
c.5586C>A (p.Asn1862Lys)
c.5766C>A (p.Asn1922Lys)
c.5700C>A (p.Asn1900Lys)
c.5763C>A (p.Asn1921Lys)
c.5760C>A (p.Asn1920Lys)
c.5706C>A (p.Asn1902Lys)
c.5631C>A (p.Asn1877Lys)
c.5226C>A (p.Asn1742Lys)
c.4584C>A (p.Asn1528Lys)
c.2094C>A (p.Asn698Lys)
n.6009C>A
10g.71784959C=CA1918862244CDH23c.5571C= (p.Asn1857=)
c.5586C= (p.Asn1862=)
c.5766C= (p.Asn1922=)
c.5700C= (p.Asn1900=)
c.5763C= (p.Asn1921=)
c.5760C= (p.Asn1920=)
c.5706C= (p.Asn1902=)
c.5631C= (p.Asn1877=)
c.5226C= (p.Asn1742=)
c.4584C= (p.Asn1528=)
c.2094C= (p.Asn698=)
n.6009C=
10g.71784959C>GCA377146623CDH23c.5571C>G (p.Asn1857Lys)
c.5586C>G (p.Asn1862Lys)
c.5766C>G (p.Asn1922Lys)
c.5700C>G (p.Asn1900Lys)
c.5763C>G (p.Asn1921Lys)
c.5760C>G (p.Asn1920Lys)
c.5706C>G (p.Asn1902Lys)
c.5631C>G (p.Asn1877Lys)
c.5226C>G (p.Asn1742Lys)
c.4584C>G (p.Asn1528Lys)
c.2094C>G (p.Asn698Lys)
n.6009C>G
10g.71784959C>TCA470060726CDH23c.5571C>T (p.Asn1857=)
c.5586C>T (p.Asn1862=)
c.5766C>T (p.Asn1922=)
c.5700C>T (p.Asn1900=)
c.5763C>T (p.Asn1921=)
c.5760C>T (p.Asn1920=)
c.5706C>T (p.Asn1902=)
c.5631C>T (p.Asn1877=)
c.5226C>T (p.Asn1742=)
c.4584C>T (p.Asn1528=)
c.2094C>T (p.Asn698=)
n.6009C>T
 dbSNP gnomAD v3 gnomAD v4
10g.71784960A=CA1918862247CDH23c.5572A= (p.Ile1858=)
c.5587A= (p.Ile1863=)
c.5767A= (p.Ile1923=)
c.5701A= (p.Ile1901=)
c.5764A= (p.Ile1922=)
c.5761A= (p.Ile1921=)
c.5707A= (p.Ile1903=)
c.5632A= (p.Ile1878=)
c.5227A= (p.Ile1743=)
c.4585A= (p.Ile1529=)
c.2095A= (p.Ile699=)
n.6010A=
10g.71784960A>CCA377146626CDH23c.5572A>C (p.Ile1858Leu)
c.5587A>C (p.Ile1863Leu)
c.5767A>C (p.Ile1923Leu)
c.5701A>C (p.Ile1901Leu)
c.5764A>C (p.Ile1922Leu)
c.5761A>C (p.Ile1921Leu)
c.5707A>C (p.Ile1903Leu)
c.5632A>C (p.Ile1878Leu)
c.5227A>C (p.Ile1743Leu)
c.4585A>C (p.Ile1529Leu)
c.2095A>C (p.Ile699Leu)
n.6010A>C
10g.71784960A>GCA377146627CDH23c.5572A>G (p.Ile1858Val)
c.5587A>G (p.Ile1863Val)
c.5767A>G (p.Ile1923Val)
c.5701A>G (p.Ile1901Val)
c.5764A>G (p.Ile1922Val)
c.5761A>G (p.Ile1921Val)
c.5707A>G (p.Ile1903Val)
c.5632A>G (p.Ile1878Val)
c.5227A>G (p.Ile1743Val)
c.4585A>G (p.Ile1529Val)
c.2095A>G (p.Ile699Val)
n.6010A>G
10g.71784960A>TCA377146629CDH23c.5572A>T (p.Ile1858Phe)
c.5587A>T (p.Ile1863Phe)
c.5767A>T (p.Ile1923Phe)
c.5701A>T (p.Ile1901Phe)
c.5764A>T (p.Ile1922Phe)
c.5761A>T (p.Ile1921Phe)
c.5707A>T (p.Ile1903Phe)
c.5632A>T (p.Ile1878Phe)
c.5227A>T (p.Ile1743Phe)
c.4585A>T (p.Ile1529Phe)
c.2095A>T (p.Ile699Phe)
n.6010A>T
 dbSNP
10g.71784961T>ACA377146630CDH23c.5573T>A (p.Ile1858Asn)
c.5588T>A (p.Ile1863Asn)
c.5768T>A (p.Ile1923Asn)
c.5702T>A (p.Ile1901Asn)
c.5765T>A (p.Ile1922Asn)
c.5762T>A (p.Ile1921Asn)
c.5708T>A (p.Ile1903Asn)
c.5633T>A (p.Ile1878Asn)
c.5228T>A (p.Ile1743Asn)
c.4586T>A (p.Ile1529Asn)
c.2096T>A (p.Ile699Asn)
n.6011T>A
 gnomAD v4
10g.71784961T>CCA377146632CDH23c.5573T>C (p.Ile1858Thr)
c.5588T>C (p.Ile1863Thr)
c.5768T>C (p.Ile1923Thr)
c.5702T>C (p.Ile1901Thr)
c.5765T>C (p.Ile1922Thr)
c.5762T>C (p.Ile1921Thr)
c.5708T>C (p.Ile1903Thr)
c.5633T>C (p.Ile1878Thr)
c.5228T>C (p.Ile1743Thr)
c.4586T>C (p.Ile1529Thr)
c.2096T>C (p.Ile699Thr)
n.6011T>C
10g.71784961T>GCA377146634CDH23c.5573T>G (p.Ile1858Ser)
c.5588T>G (p.Ile1863Ser)
c.5768T>G (p.Ile1923Ser)
c.5702T>G (p.Ile1901Ser)
c.5765T>G (p.Ile1922Ser)
c.5762T>G (p.Ile1921Ser)
c.5708T>G (p.Ile1903Ser)
c.5633T>G (p.Ile1878Ser)
c.5228T>G (p.Ile1743Ser)
c.4586T>G (p.Ile1529Ser)
c.2096T>G (p.Ile699Ser)
n.6011T>G

Number of alleles fetched