Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71798496C>ACA377158100CDH23c.6972C>A (p.Asp2324Glu)
c.905C>A (n.905C>A)
c.569C>A (n.569C>A)
c.6987C>A (p.Asp2329Glu)
c.252C>A (p.Asp84Glu)
n.508C>A
c.7167C>A (p.Asp2389Glu)
c.7101C>A (p.Asp2367Glu)
c.7164C>A (p.Asp2388Glu)
c.7161C>A (p.Asp2387Glu)
c.7107C>A (p.Asp2369Glu)
c.7077C>A (p.Asp2359Glu)
c.7032C>A (p.Asp2344Glu)
c.6627C>A (p.Asp2209Glu)
c.5985C>A (p.Asp1995Glu)
c.3495C>A (p.Asp1165Glu)
10g.71798496C>GCA377158102CDH23c.6972C>G (p.Asp2324Glu)
c.905C>G (n.905C>G)
c.569C>G (n.569C>G)
c.6987C>G (p.Asp2329Glu)
c.252C>G (p.Asp84Glu)
n.508C>G
c.7167C>G (p.Asp2389Glu)
c.7101C>G (p.Asp2367Glu)
c.7164C>G (p.Asp2388Glu)
c.7161C>G (p.Asp2387Glu)
c.7107C>G (p.Asp2369Glu)
c.7077C>G (p.Asp2359Glu)
c.7032C>G (p.Asp2344Glu)
c.6627C>G (p.Asp2209Glu)
c.5985C>G (p.Asp1995Glu)
c.3495C>G (p.Asp1165Glu)
10g.71798496C>TCA470062080CDH23c.6972C>T (p.Asp2324=)
c.905C>T (n.905C>T)
c.569C>T (n.569C>T)
c.6987C>T (p.Asp2329=)
c.252C>T (p.Asp84=)
n.508C>T
c.7167C>T (p.Asp2389=)
c.7101C>T (p.Asp2367=)
c.7164C>T (p.Asp2388=)
c.7161C>T (p.Asp2387=)
c.7107C>T (p.Asp2369=)
c.7077C>T (p.Asp2359=)
c.7032C>T (p.Asp2344=)
c.6627C>T (p.Asp2209=)
c.5985C>T (p.Asp1995=)
c.3495C>T (p.Asp1165=)
 gnomAD v4
10g.71798497A>CCA377158103CDH23c.6973A>C (p.Lys2325Gln)
c.906A>C (n.906A>C)
c.570A>C (n.570A>C)
c.6988A>C (p.Lys2330Gln)
c.253A>C (p.Lys85Gln)
n.509A>C
c.7168A>C (p.Lys2390Gln)
c.7102A>C (p.Lys2368Gln)
c.7165A>C (p.Lys2389Gln)
c.7162A>C (p.Lys2388Gln)
c.7108A>C (p.Lys2370Gln)
c.7078A>C (p.Lys2360Gln)
c.7033A>C (p.Lys2345Gln)
c.6628A>C (p.Lys2210Gln)
c.5986A>C (p.Lys1996Gln)
c.3496A>C (p.Lys1166Gln)
10g.71798497A>GCA377158105CDH23c.6973A>G (p.Lys2325Glu)
c.906A>G (n.906A>G)
c.570A>G (n.570A>G)
c.6988A>G (p.Lys2330Glu)
c.253A>G (p.Lys85Glu)
n.509A>G
c.7168A>G (p.Lys2390Glu)
c.7102A>G (p.Lys2368Glu)
c.7165A>G (p.Lys2389Glu)
c.7162A>G (p.Lys2388Glu)
c.7108A>G (p.Lys2370Glu)
c.7078A>G (p.Lys2360Glu)
c.7033A>G (p.Lys2345Glu)
c.6628A>G (p.Lys2210Glu)
c.5986A>G (p.Lys1996Glu)
c.3496A>G (p.Lys1166Glu)
10g.71798497A>TCA377158107CDH23c.6973A>T (p.Lys2325Ter)
c.906A>T (n.906A>T)
c.570A>T (n.570A>T)
c.6988A>T (p.Lys2330Ter)
c.253A>T (p.Lys85Ter)
n.509A>T
c.7168A>T (p.Lys2390Ter)
c.7102A>T (p.Lys2368Ter)
c.7165A>T (p.Lys2389Ter)
c.7162A>T (p.Lys2388Ter)
c.7108A>T (p.Lys2370Ter)
c.7078A>T (p.Lys2360Ter)
c.7033A>T (p.Lys2345Ter)
c.6628A>T (p.Lys2210Ter)
c.5986A>T (p.Lys1996Ter)
c.3496A>T (p.Lys1166Ter)
10g.71798498dupCA2580081848CDH23c.6974dup (p.Leu2327ProfsTer2)
c.907dup (n.907dup)
c.571dup (n.571dup)
c.6989dup (p.Leu2332ProfsTer2)
c.254dup (p.Leu87ProfsTer2)
n.510dup
c.7169dup (p.Leu2392ProfsTer2)
c.7103dup (p.Leu2370ProfsTer2)
c.7166dup (p.Leu2391ProfsTer2)
c.7163dup (p.Leu2390ProfsTer2)
c.7109dup (p.Leu2372ProfsTer2)
c.7079dup (p.Leu2362ProfsTer2)
c.7034dup (p.Leu2347ProfsTer2)
c.6629dup (p.Leu2212ProfsTer2)
c.5987dup (p.Leu1998ProfsTer2)
c.3497dup (p.Leu1168ProfsTer2)
 ClinVar
10g.71798498A>CCA377158108CDH23c.6974A>C (p.Lys2325Thr)
c.907A>C (n.907A>C)
c.571A>C (n.571A>C)
c.6989A>C (p.Lys2330Thr)
c.254A>C (p.Lys85Thr)
n.510A>C
c.7169A>C (p.Lys2390Thr)
c.7103A>C (p.Lys2368Thr)
c.7166A>C (p.Lys2389Thr)
c.7163A>C (p.Lys2388Thr)
c.7109A>C (p.Lys2370Thr)
c.7079A>C (p.Lys2360Thr)
c.7034A>C (p.Lys2345Thr)
c.6629A>C (p.Lys2210Thr)
c.5987A>C (p.Lys1996Thr)
c.3497A>C (p.Lys1166Thr)
10g.71798498A>GCA377158109CDH23c.6974A>G (p.Lys2325Arg)
c.907A>G (n.907A>G)
c.571A>G (n.571A>G)
c.6989A>G (p.Lys2330Arg)
c.254A>G (p.Lys85Arg)
n.510A>G
c.7169A>G (p.Lys2390Arg)
c.7103A>G (p.Lys2368Arg)
c.7166A>G (p.Lys2389Arg)
c.7163A>G (p.Lys2388Arg)
c.7109A>G (p.Lys2370Arg)
c.7079A>G (p.Lys2360Arg)
c.7034A>G (p.Lys2345Arg)
c.6629A>G (p.Lys2210Arg)
c.5987A>G (p.Lys1996Arg)
c.3497A>G (p.Lys1166Arg)
10g.71798498A>TCA377158110CDH23c.6974A>T (p.Lys2325Met)
c.907A>T (n.907A>T)
c.571A>T (n.571A>T)
c.6989A>T (p.Lys2330Met)
c.254A>T (p.Lys85Met)
n.510A>T
c.7169A>T (p.Lys2390Met)
c.7103A>T (p.Lys2368Met)
c.7166A>T (p.Lys2389Met)
c.7163A>T (p.Lys2388Met)
c.7109A>T (p.Lys2370Met)
c.7079A>T (p.Lys2360Met)
c.7034A>T (p.Lys2345Met)
c.6629A>T (p.Lys2210Met)
c.5987A>T (p.Lys1996Met)
c.3497A>T (p.Lys1166Met)
10g.71798499G>ACA470062082CDH23c.6975G>A (p.Lys2325=)
c.908G>A (n.908G>A)
c.572G>A (n.572G>A)
c.6990G>A (p.Lys2330=)
c.255G>A (p.Lys85=)
n.511G>A
c.7170G>A (p.Lys2390=)
c.7104G>A (p.Lys2368=)
c.7167G>A (p.Lys2389=)
c.7164G>A (p.Lys2388=)
c.7110G>A (p.Lys2370=)
c.7080G>A (p.Lys2360=)
c.7035G>A (p.Lys2345=)
c.6630G>A (p.Lys2210=)
c.5988G>A (p.Lys1996=)
c.3498G>A (p.Lys1166=)
 ClinVar dbSNP
10g.71798499G>CCA377158111CDH23c.6975G>C (p.Lys2325Asn)
c.908G>C (n.908G>C)
c.572G>C (n.572G>C)
c.6990G>C (p.Lys2330Asn)
c.255G>C (p.Lys85Asn)
n.511G>C
c.7170G>C (p.Lys2390Asn)
c.7104G>C (p.Lys2368Asn)
c.7167G>C (p.Lys2389Asn)
c.7164G>C (p.Lys2388Asn)
c.7110G>C (p.Lys2370Asn)
c.7080G>C (p.Lys2360Asn)
c.7035G>C (p.Lys2345Asn)
c.6630G>C (p.Lys2210Asn)
c.5988G>C (p.Lys1996Asn)
c.3498G>C (p.Lys1166Asn)
10g.71798499G>TCA377158113CDH23c.6975G>T (p.Lys2325Asn)
c.908G>T (n.908G>T)
c.572G>T (n.572G>T)
c.6990G>T (p.Lys2330Asn)
c.255G>T (p.Lys85Asn)
n.511G>T
c.7170G>T (p.Lys2390Asn)
c.7104G>T (p.Lys2368Asn)
c.7167G>T (p.Lys2389Asn)
c.7164G>T (p.Lys2388Asn)
c.7110G>T (p.Lys2370Asn)
c.7080G>T (p.Lys2360Asn)
c.7035G>T (p.Lys2345Asn)
c.6630G>T (p.Lys2210Asn)
c.5988G>T (p.Lys1996Asn)
c.3498G>T (p.Lys1166Asn)
10g.71798500G>ACA377158115CDH23c.6976G>A (p.Gly2326Ser)
c.909G>A (n.909G>A)
c.573G>A (n.573G>A)
c.6991G>A (p.Gly2331Ser)
c.256G>A (p.Gly86Ser)
n.512G>A
c.7171G>A (p.Gly2391Ser)
c.7105G>A (p.Gly2369Ser)
c.7168G>A (p.Gly2390Ser)
c.7165G>A (p.Gly2389Ser)
c.7111G>A (p.Gly2371Ser)
c.7081G>A (p.Gly2361Ser)
c.7036G>A (p.Gly2346Ser)
c.6631G>A (p.Gly2211Ser)
c.5989G>A (p.Gly1997Ser)
c.3499G>A (p.Gly1167Ser)
10g.71798500G>CCA377158116CDH23c.6976G>C (p.Gly2326Arg)
c.909G>C (n.909G>C)
c.573G>C (n.573G>C)
c.6991G>C (p.Gly2331Arg)
c.256G>C (p.Gly86Arg)
n.512G>C
c.7171G>C (p.Gly2391Arg)
c.7105G>C (p.Gly2369Arg)
c.7168G>C (p.Gly2390Arg)
c.7165G>C (p.Gly2389Arg)
c.7111G>C (p.Gly2371Arg)
c.7081G>C (p.Gly2361Arg)
c.7036G>C (p.Gly2346Arg)
c.6631G>C (p.Gly2211Arg)
c.5989G>C (p.Gly1997Arg)
c.3499G>C (p.Gly1167Arg)
10g.71798500G>TCA377158118CDH23c.6976G>T (p.Gly2326Cys)
c.909G>T (n.909G>T)
c.573G>T (n.573G>T)
c.6991G>T (p.Gly2331Cys)
c.256G>T (p.Gly86Cys)
n.512G>T
c.7171G>T (p.Gly2391Cys)
c.7105G>T (p.Gly2369Cys)
c.7168G>T (p.Gly2390Cys)
c.7165G>T (p.Gly2389Cys)
c.7111G>T (p.Gly2371Cys)
c.7081G>T (p.Gly2361Cys)
c.7036G>T (p.Gly2346Cys)
c.6631G>T (p.Gly2211Cys)
c.5989G>T (p.Gly1997Cys)
c.3499G>T (p.Gly1167Cys)
10g.71798501G>ACA377158121CDH23c.6977G>A (p.Gly2326Asp)
c.910G>A (n.910G>A)
c.574G>A (n.574G>A)
c.6992G>A (p.Gly2331Asp)
c.257G>A (p.Gly86Asp)
n.513G>A
c.7172G>A (p.Gly2391Asp)
c.7106G>A (p.Gly2369Asp)
c.7169G>A (p.Gly2390Asp)
c.7166G>A (p.Gly2389Asp)
c.7112G>A (p.Gly2371Asp)
c.7082G>A (p.Gly2361Asp)
c.7037G>A (p.Gly2346Asp)
c.6632G>A (p.Gly2211Asp)
c.5990G>A (p.Gly1997Asp)
c.3500G>A (p.Gly1167Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798501G>CCA377158126CDH23c.6977G>C (p.Gly2326Ala)
c.910G>C (n.910G>C)
c.574G>C (n.574G>C)
c.6992G>C (p.Gly2331Ala)
c.257G>C (p.Gly86Ala)
n.513G>C
c.7172G>C (p.Gly2391Ala)
c.7106G>C (p.Gly2369Ala)
c.7169G>C (p.Gly2390Ala)
c.7166G>C (p.Gly2389Ala)
c.7112G>C (p.Gly2371Ala)
c.7082G>C (p.Gly2361Ala)
c.7037G>C (p.Gly2346Ala)
c.6632G>C (p.Gly2211Ala)
c.5990G>C (p.Gly1997Ala)
c.3500G>C (p.Gly1167Ala)
10g.71798501G=CA1918878472CDH23c.6977G= (p.Gly2326=)
c.910G= (n.910G=)
c.574G= (n.574G=)
c.6992G= (p.Gly2331=)
c.257G= (p.Gly86=)
n.513G=
c.7172G= (p.Gly2391=)
c.7106G= (p.Gly2369=)
c.7169G= (p.Gly2390=)
c.7166G= (p.Gly2389=)
c.7112G= (p.Gly2371=)
c.7082G= (p.Gly2361=)
c.7037G= (p.Gly2346=)
c.6632G= (p.Gly2211=)
c.5990G= (p.Gly1997=)
c.3500G= (p.Gly1167=)
10g.71798501G>TCA377158119CDH23c.6977G>T (p.Gly2326Val)
c.910G>T (n.910G>T)
c.574G>T (n.574G>T)
c.6992G>T (p.Gly2331Val)
c.257G>T (p.Gly86Val)
n.513G>T
c.7172G>T (p.Gly2391Val)
c.7106G>T (p.Gly2369Val)
c.7169G>T (p.Gly2390Val)
c.7166G>T (p.Gly2389Val)
c.7112G>T (p.Gly2371Val)
c.7082G>T (p.Gly2361Val)
c.7037G>T (p.Gly2346Val)
c.6632G>T (p.Gly2211Val)
c.5990G>T (p.Gly1997Val)
c.3500G>T (p.Gly1167Val)
10g.71798502C>ACA470062083CDH23c.6978C>A (p.Gly2326=)
c.911C>A (n.911C>A)
c.575C>A (n.575C>A)
c.6993C>A (p.Gly2331=)
c.258C>A (p.Gly86=)
n.514C>A
c.7173C>A (p.Gly2391=)
c.7107C>A (p.Gly2369=)
c.7170C>A (p.Gly2390=)
c.7167C>A (p.Gly2389=)
c.7113C>A (p.Gly2371=)
c.7083C>A (p.Gly2361=)
c.7038C>A (p.Gly2346=)
c.6633C>A (p.Gly2211=)
c.5991C>A (p.Gly1997=)
c.3501C>A (p.Gly1167=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71798502C=CA1918878473CDH23c.6978C= (p.Gly2326=)
c.911C= (n.911C=)
c.575C= (n.575C=)
c.6993C= (p.Gly2331=)
c.258C= (p.Gly86=)
n.514C=
c.7173C= (p.Gly2391=)
c.7107C= (p.Gly2369=)
c.7170C= (p.Gly2390=)
c.7167C= (p.Gly2389=)
c.7113C= (p.Gly2371=)
c.7083C= (p.Gly2361=)
c.7038C= (p.Gly2346=)
c.6633C= (p.Gly2211=)
c.5991C= (p.Gly1997=)
c.3501C= (p.Gly1167=)
10g.71798502C>GCA470062084CDH23c.6978C>G (p.Gly2326=)
c.911C>G (n.911C>G)
c.575C>G (n.575C>G)
c.6993C>G (p.Gly2331=)
c.258C>G (p.Gly86=)
n.514C>G
c.7173C>G (p.Gly2391=)
c.7107C>G (p.Gly2369=)
c.7170C>G (p.Gly2390=)
c.7167C>G (p.Gly2389=)
c.7113C>G (p.Gly2371=)
c.7083C>G (p.Gly2361=)
c.7038C>G (p.Gly2346=)
c.6633C>G (p.Gly2211=)
c.5991C>G (p.Gly1997=)
c.3501C>G (p.Gly1167=)
10g.71798502C>TCA470062085CDH23c.6978C>T (p.Gly2326=)
c.911C>T (n.911C>T)
c.575C>T (n.575C>T)
c.6993C>T (p.Gly2331=)
c.258C>T (p.Gly86=)
n.514C>T
c.7173C>T (p.Gly2391=)
c.7107C>T (p.Gly2369=)
c.7170C>T (p.Gly2390=)
c.7167C>T (p.Gly2389=)
c.7113C>T (p.Gly2371=)
c.7083C>T (p.Gly2361=)
c.7038C>T (p.Gly2346=)
c.6633C>T (p.Gly2211=)
c.5991C>T (p.Gly1997=)
c.3501C>T (p.Gly1167=)
 ClinVar dbSNP gnomAD v4
10g.71798503C>ACA377158129CDH23c.6979C>A (p.Leu2327Ile)
c.912C>A (n.912C>A)
c.576C>A (n.576C>A)
c.6994C>A (p.Leu2332Ile)
c.259C>A (p.Leu87Ile)
n.515C>A
c.7174C>A (p.Leu2392Ile)
c.7108C>A (p.Leu2370Ile)
c.7171C>A (p.Leu2391Ile)
c.7168C>A (p.Leu2390Ile)
c.7114C>A (p.Leu2372Ile)
c.7084C>A (p.Leu2362Ile)
c.7039C>A (p.Leu2347Ile)
c.6634C>A (p.Leu2212Ile)
c.5992C>A (p.Leu1998Ile)
c.3502C>A (p.Leu1168Ile)
10g.71798503C=CA1918878474CDH23c.6979C= (p.Leu2327=)
c.912C= (n.912C=)
c.576C= (n.576C=)
c.6994C= (p.Leu2332=)
c.259C= (p.Leu87=)
n.515C=
c.7174C= (p.Leu2392=)
c.7108C= (p.Leu2370=)
c.7171C= (p.Leu2391=)
c.7168C= (p.Leu2390=)
c.7114C= (p.Leu2372=)
c.7084C= (p.Leu2362=)
c.7039C= (p.Leu2347=)
c.6634C= (p.Leu2212=)
c.5992C= (p.Leu1998=)
c.3502C= (p.Leu1168=)
10g.71798503C>GCA377158131CDH23c.6979C>G (p.Leu2327Val)
c.912C>G (n.912C>G)
c.576C>G (n.576C>G)
c.6994C>G (p.Leu2332Val)
c.259C>G (p.Leu87Val)
n.515C>G
c.7174C>G (p.Leu2392Val)
c.7108C>G (p.Leu2370Val)
c.7171C>G (p.Leu2391Val)
c.7168C>G (p.Leu2390Val)
c.7114C>G (p.Leu2372Val)
c.7084C>G (p.Leu2362Val)
c.7039C>G (p.Leu2347Val)
c.6634C>G (p.Leu2212Val)
c.5992C>G (p.Leu1998Val)
c.3502C>G (p.Leu1168Val)
10g.71798503C>TCA377158133CDH23c.6979C>T (p.Leu2327Phe)
c.912C>T (n.912C>T)
c.576C>T (n.576C>T)
c.6994C>T (p.Leu2332Phe)
c.259C>T (p.Leu87Phe)
n.515C>T
c.7174C>T (p.Leu2392Phe)
c.7108C>T (p.Leu2370Phe)
c.7171C>T (p.Leu2391Phe)
c.7168C>T (p.Leu2390Phe)
c.7114C>T (p.Leu2372Phe)
c.7084C>T (p.Leu2362Phe)
c.7039C>T (p.Leu2347Phe)
c.6634C>T (p.Leu2212Phe)
c.5992C>T (p.Leu1998Phe)
c.3502C>T (p.Leu1168Phe)
 dbSNP
10g.71798504T>ACA209469637CDH23c.6980T>A (p.Leu2327His)
c.913T>A (n.913T>A)
c.577T>A (n.577T>A)
c.6995T>A (p.Leu2332His)
c.260T>A (p.Leu87His)
n.516T>A
c.7175T>A (p.Leu2392His)
c.7109T>A (p.Leu2370His)
c.7172T>A (p.Leu2391His)
c.7169T>A (p.Leu2390His)
c.7115T>A (p.Leu2372His)
c.7085T>A (p.Leu2362His)
c.7040T>A (p.Leu2347His)
c.6635T>A (p.Leu2212His)
c.5993T>A (p.Leu1998His)
c.3503T>A (p.Leu1168His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798504T>CCA377158134CDH23c.6980T>C (p.Leu2327Pro)
c.913T>C (n.913T>C)
c.577T>C (n.577T>C)
c.6995T>C (p.Leu2332Pro)
c.260T>C (p.Leu87Pro)
n.516T>C
c.7175T>C (p.Leu2392Pro)
c.7109T>C (p.Leu2370Pro)
c.7172T>C (p.Leu2391Pro)
c.7169T>C (p.Leu2390Pro)
c.7115T>C (p.Leu2372Pro)
c.7085T>C (p.Leu2362Pro)
c.7040T>C (p.Leu2347Pro)
c.6635T>C (p.Leu2212Pro)
c.5993T>C (p.Leu1998Pro)
c.3503T>C (p.Leu1168Pro)
10g.71798504T>GCA377158136CDH23c.6980T>G (p.Leu2327Arg)
c.913T>G (n.913T>G)
c.577T>G (n.577T>G)
c.6995T>G (p.Leu2332Arg)
c.260T>G (p.Leu87Arg)
n.516T>G
c.7175T>G (p.Leu2392Arg)
c.7109T>G (p.Leu2370Arg)
c.7172T>G (p.Leu2391Arg)
c.7169T>G (p.Leu2390Arg)
c.7115T>G (p.Leu2372Arg)
c.7085T>G (p.Leu2362Arg)
c.7040T>G (p.Leu2347Arg)
c.6635T>G (p.Leu2212Arg)
c.5993T>G (p.Leu1998Arg)
c.3503T>G (p.Leu1168Arg)
 gnomAD v4
10g.71798504T=CA1918878475CDH23c.6980T= (p.Leu2327=)
c.913T= (n.913T=)
c.577T= (n.577T=)
c.6995T= (p.Leu2332=)
c.260T= (p.Leu87=)
n.516T=
c.7175T= (p.Leu2392=)
c.7109T= (p.Leu2370=)
c.7172T= (p.Leu2391=)
c.7169T= (p.Leu2390=)
c.7115T= (p.Leu2372=)
c.7085T= (p.Leu2362=)
c.7040T= (p.Leu2347=)
c.6635T= (p.Leu2212=)
c.5993T= (p.Leu1998=)
c.3503T= (p.Leu1168=)
10g.71798505T>ACA470062088CDH23c.6981T>A (p.Leu2327=)
c.914T>A (n.914T>A)
c.578T>A (n.578T>A)
c.6996T>A (p.Leu2332=)
c.261T>A (p.Leu87=)
n.517T>A
c.7176T>A (p.Leu2392=)
c.7110T>A (p.Leu2370=)
c.7173T>A (p.Leu2391=)
c.7170T>A (p.Leu2390=)
c.7116T>A (p.Leu2372=)
c.7086T>A (p.Leu2362=)
c.7041T>A (p.Leu2347=)
c.6636T>A (p.Leu2212=)
c.5994T>A (p.Leu1998=)
c.3504T>A (p.Leu1168=)
10g.71798505T>CCA470062087CDH23c.6981T>C (p.Leu2327=)
c.914T>C (n.914T>C)
c.578T>C (n.578T>C)
c.6996T>C (p.Leu2332=)
c.261T>C (p.Leu87=)
n.517T>C
c.7176T>C (p.Leu2392=)
c.7110T>C (p.Leu2370=)
c.7173T>C (p.Leu2391=)
c.7170T>C (p.Leu2390=)
c.7116T>C (p.Leu2372=)
c.7086T>C (p.Leu2362=)
c.7041T>C (p.Leu2347=)
c.6636T>C (p.Leu2212=)
c.5994T>C (p.Leu1998=)
c.3504T>C (p.Leu1168=)
10g.71798505T>GCA470062086CDH23c.6981T>G (p.Leu2327=)
c.914T>G (n.914T>G)
c.578T>G (n.578T>G)
c.6996T>G (p.Leu2332=)
c.261T>G (p.Leu87=)
n.517T>G
c.7176T>G (p.Leu2392=)
c.7110T>G (p.Leu2370=)
c.7173T>G (p.Leu2391=)
c.7170T>G (p.Leu2390=)
c.7116T>G (p.Leu2372=)
c.7086T>G (p.Leu2362=)
c.7041T>G (p.Leu2347=)
c.6636T>G (p.Leu2212=)
c.5994T>G (p.Leu1998=)
c.3504T>G (p.Leu1168=)
10g.71798506A=CA1918878476CDH23c.6982A= (p.Asn2328=)
c.915A= (n.915A=)
c.579A= (n.579A=)
c.6997A= (p.Asn2333=)
c.262A= (p.Asn88=)
n.518A=
c.7177A= (p.Asn2393=)
c.7111A= (p.Asn2371=)
c.7174A= (p.Asn2392=)
c.7171A= (p.Asn2391=)
c.7117A= (p.Asn2373=)
c.7087A= (p.Asn2363=)
c.7042A= (p.Asn2348=)
c.6637A= (p.Asn2213=)
c.5995A= (p.Asn1999=)
c.3505A= (p.Asn1169=)
10g.71798506A>CCA377158156CDH23c.6982A>C (p.Asn2328His)
c.915A>C (n.915A>C)
c.579A>C (n.579A>C)
c.6997A>C (p.Asn2333His)
c.262A>C (p.Asn88His)
n.518A>C
c.7177A>C (p.Asn2393His)
c.7111A>C (p.Asn2371His)
c.7174A>C (p.Asn2392His)
c.7171A>C (p.Asn2391His)
c.7117A>C (p.Asn2373His)
c.7087A>C (p.Asn2363His)
c.7042A>C (p.Asn2348His)
c.6637A>C (p.Asn2213His)
c.5995A>C (p.Asn1999His)
c.3505A>C (p.Asn1169His)
10g.71798506A>GCA377158142CDH23c.6982A>G (p.Asn2328Asp)
c.915A>G (n.915A>G)
c.579A>G (n.579A>G)
c.6997A>G (p.Asn2333Asp)
c.262A>G (p.Asn88Asp)
n.518A>G
c.7177A>G (p.Asn2393Asp)
c.7111A>G (p.Asn2371Asp)
c.7174A>G (p.Asn2392Asp)
c.7171A>G (p.Asn2391Asp)
c.7117A>G (p.Asn2373Asp)
c.7087A>G (p.Asn2363Asp)
c.7042A>G (p.Asn2348Asp)
c.6637A>G (p.Asn2213Asp)
c.5995A>G (p.Asn1999Asp)
c.3505A>G (p.Asn1169Asp)
 dbSNP gnomAD v4
10g.71798506A>TCA377158155CDH23c.6982A>T (p.Asn2328Tyr)
c.915A>T (n.915A>T)
c.579A>T (n.579A>T)
c.6997A>T (p.Asn2333Tyr)
c.262A>T (p.Asn88Tyr)
n.518A>T
c.7177A>T (p.Asn2393Tyr)
c.7111A>T (p.Asn2371Tyr)
c.7174A>T (p.Asn2392Tyr)
c.7171A>T (p.Asn2391Tyr)
c.7117A>T (p.Asn2373Tyr)
c.7087A>T (p.Asn2363Tyr)
c.7042A>T (p.Asn2348Tyr)
c.6637A>T (p.Asn2213Tyr)
c.5995A>T (p.Asn1999Tyr)
c.3505A>T (p.Asn1169Tyr)
10g.71798507A>CCA377158158CDH23c.6983A>C (p.Asn2328Thr)
c.916A>C (n.916A>C)
c.580A>C (n.580A>C)
c.6998A>C (p.Asn2333Thr)
c.263A>C (p.Asn88Thr)
n.519A>C
c.7178A>C (p.Asn2393Thr)
c.7112A>C (p.Asn2371Thr)
c.7175A>C (p.Asn2392Thr)
c.7172A>C (p.Asn2391Thr)
c.7118A>C (p.Asn2373Thr)
c.7088A>C (p.Asn2363Thr)
c.7043A>C (p.Asn2348Thr)
c.6638A>C (p.Asn2213Thr)
c.5996A>C (p.Asn1999Thr)
c.3506A>C (p.Asn1169Thr)
10g.71798507A>GCA377158160CDH23c.6983A>G (p.Asn2328Ser)
c.916A>G (n.916A>G)
c.580A>G (n.580A>G)
c.6998A>G (p.Asn2333Ser)
c.263A>G (p.Asn88Ser)
n.519A>G
c.7178A>G (p.Asn2393Ser)
c.7112A>G (p.Asn2371Ser)
c.7175A>G (p.Asn2392Ser)
c.7172A>G (p.Asn2391Ser)
c.7118A>G (p.Asn2373Ser)
c.7088A>G (p.Asn2363Ser)
c.7043A>G (p.Asn2348Ser)
c.6638A>G (p.Asn2213Ser)
c.5996A>G (p.Asn1999Ser)
c.3506A>G (p.Asn1169Ser)
10g.71798507A>TCA377158167CDH23c.6983A>T (p.Asn2328Ile)
c.916A>T (n.916A>T)
c.580A>T (n.580A>T)
c.6998A>T (p.Asn2333Ile)
c.263A>T (p.Asn88Ile)
n.519A>T
c.7178A>T (p.Asn2393Ile)
c.7112A>T (p.Asn2371Ile)
c.7175A>T (p.Asn2392Ile)
c.7172A>T (p.Asn2391Ile)
c.7118A>T (p.Asn2373Ile)
c.7088A>T (p.Asn2363Ile)
c.7043A>T (p.Asn2348Ile)
c.6638A>T (p.Asn2213Ile)
c.5996A>T (p.Asn1999Ile)
c.3506A>T (p.Asn1169Ile)
10g.71798508T>ACA377158169CDH23c.6984T>A (p.Asn2328Lys)
c.917T>A (n.917T>A)
c.581T>A (n.581T>A)
c.6999T>A (p.Asn2333Lys)
c.264T>A (p.Asn88Lys)
n.520T>A
c.7179T>A (p.Asn2393Lys)
c.7113T>A (p.Asn2371Lys)
c.7176T>A (p.Asn2392Lys)
c.7173T>A (p.Asn2391Lys)
c.7119T>A (p.Asn2373Lys)
c.7089T>A (p.Asn2363Lys)
c.7044T>A (p.Asn2348Lys)
c.6639T>A (p.Asn2213Lys)
c.5997T>A (p.Asn1999Lys)
c.3507T>A (p.Asn1169Lys)
10g.71798508T>CCA470062089CDH23c.6984T>C (p.Asn2328=)
c.917T>C (n.917T>C)
c.581T>C (n.581T>C)
c.6999T>C (p.Asn2333=)
c.264T>C (p.Asn88=)
n.520T>C
c.7179T>C (p.Asn2393=)
c.7113T>C (p.Asn2371=)
c.7176T>C (p.Asn2392=)
c.7173T>C (p.Asn2391=)
c.7119T>C (p.Asn2373=)
c.7089T>C (p.Asn2363=)
c.7044T>C (p.Asn2348=)
c.6639T>C (p.Asn2213=)
c.5997T>C (p.Asn1999=)
c.3507T>C (p.Asn1169=)
10g.71798508T>GCA377158170CDH23c.6984T>G (p.Asn2328Lys)
c.917T>G (n.917T>G)
c.581T>G (n.581T>G)
c.6999T>G (p.Asn2333Lys)
c.264T>G (p.Asn88Lys)
n.520T>G
c.7179T>G (p.Asn2393Lys)
c.7113T>G (p.Asn2371Lys)
c.7176T>G (p.Asn2392Lys)
c.7173T>G (p.Asn2391Lys)
c.7119T>G (p.Asn2373Lys)
c.7089T>G (p.Asn2363Lys)
c.7044T>G (p.Asn2348Lys)
c.6639T>G (p.Asn2213Lys)
c.5997T>G (p.Asn1999Lys)
c.3507T>G (p.Asn1169Lys)
10g.71798509G>ACA377158178CDH23c.6985G>A (p.Gly2329Arg)
c.918G>A (n.918G>A)
c.582G>A (n.582G>A)
c.7000G>A (p.Gly2334Arg)
c.265G>A (p.Gly89Arg)
n.521G>A
c.7180G>A (p.Gly2394Arg)
c.7114G>A (p.Gly2372Arg)
c.7177G>A (p.Gly2393Arg)
c.7174G>A (p.Gly2392Arg)
c.7120G>A (p.Gly2374Arg)
c.7090G>A (p.Gly2364Arg)
c.7045G>A (p.Gly2349Arg)
c.6640G>A (p.Gly2214Arg)
c.5998G>A (p.Gly2000Arg)
c.3508G>A (p.Gly1170Arg)
10g.71798509G>CCA377158173CDH23c.6985G>C (p.Gly2329Arg)
c.918G>C (n.918G>C)
c.582G>C (n.582G>C)
c.7000G>C (p.Gly2334Arg)
c.265G>C (p.Gly89Arg)
n.521G>C
c.7180G>C (p.Gly2394Arg)
c.7114G>C (p.Gly2372Arg)
c.7177G>C (p.Gly2393Arg)
c.7174G>C (p.Gly2392Arg)
c.7120G>C (p.Gly2374Arg)
c.7090G>C (p.Gly2364Arg)
c.7045G>C (p.Gly2349Arg)
c.6640G>C (p.Gly2214Arg)
c.5998G>C (p.Gly2000Arg)
c.3508G>C (p.Gly1170Arg)
10g.71798509G>TCA377158175CDH23c.6985G>T (p.Gly2329Trp)
c.918G>T (n.918G>T)
c.582G>T (n.582G>T)
c.7000G>T (p.Gly2334Trp)
c.265G>T (p.Gly89Trp)
n.521G>T
c.7180G>T (p.Gly2394Trp)
c.7114G>T (p.Gly2372Trp)
c.7177G>T (p.Gly2393Trp)
c.7174G>T (p.Gly2392Trp)
c.7120G>T (p.Gly2374Trp)
c.7090G>T (p.Gly2364Trp)
c.7045G>T (p.Gly2349Trp)
c.6640G>T (p.Gly2214Trp)
c.5998G>T (p.Gly2000Trp)
c.3508G>T (p.Gly1170Trp)
 gnomAD v4
10g.71798510G>ACA377158179CDH23c.6986G>A (p.Gly2329Glu)
c.919G>A (n.919G>A)
c.583G>A (n.583G>A)
c.7001G>A (p.Gly2334Glu)
c.266G>A (p.Gly89Glu)
n.522G>A
c.7181G>A (p.Gly2394Glu)
c.7115G>A (p.Gly2372Glu)
c.7178G>A (p.Gly2393Glu)
c.7175G>A (p.Gly2392Glu)
c.7121G>A (p.Gly2374Glu)
c.7091G>A (p.Gly2364Glu)
c.7046G>A (p.Gly2349Glu)
c.6641G>A (p.Gly2214Glu)
c.5999G>A (p.Gly2000Glu)
c.3509G>A (p.Gly1170Glu)
 ClinVar
10g.71798510G>CCA377158180CDH23c.6986G>C (p.Gly2329Ala)
c.919G>C (n.919G>C)
c.583G>C (n.583G>C)
c.7001G>C (p.Gly2334Ala)
c.266G>C (p.Gly89Ala)
n.522G>C
c.7181G>C (p.Gly2394Ala)
c.7115G>C (p.Gly2372Ala)
c.7178G>C (p.Gly2393Ala)
c.7175G>C (p.Gly2392Ala)
c.7121G>C (p.Gly2374Ala)
c.7091G>C (p.Gly2364Ala)
c.7046G>C (p.Gly2349Ala)
c.6641G>C (p.Gly2214Ala)
c.5999G>C (p.Gly2000Ala)
c.3509G>C (p.Gly1170Ala)
10g.71798510G>TCA377158181CDH23c.6986G>T (p.Gly2329Val)
c.919G>T (n.919G>T)
c.583G>T (n.583G>T)
c.7001G>T (p.Gly2334Val)
c.266G>T (p.Gly89Val)
n.522G>T
c.7181G>T (p.Gly2394Val)
c.7115G>T (p.Gly2372Val)
c.7178G>T (p.Gly2393Val)
c.7175G>T (p.Gly2392Val)
c.7121G>T (p.Gly2374Val)
c.7091G>T (p.Gly2364Val)
c.7046G>T (p.Gly2349Val)
c.6641G>T (p.Gly2214Val)
c.5999G>T (p.Gly2000Val)
c.3509G>T (p.Gly1170Val)
 gnomAD v4
10g.71798511G>ACA470062090CDH23c.6987G>A (p.Gly2329=)
c.920G>A (n.920G>A)
c.584G>A (n.584G>A)
c.7002G>A (p.Gly2334=)
c.267G>A (p.Gly89=)
n.523G>A
c.7182G>A (p.Gly2394=)
c.7116G>A (p.Gly2372=)
c.7179G>A (p.Gly2393=)
c.7176G>A (p.Gly2392=)
c.7122G>A (p.Gly2374=)
c.7092G>A (p.Gly2364=)
c.7047G>A (p.Gly2349=)
c.6642G>A (p.Gly2214=)
c.6000G>A (p.Gly2000=)
c.3510G>A (p.Gly1170=)
 ClinVar dbSNP gnomAD v4
10g.71798511G>CCA470062091CDH23c.6987G>C (p.Gly2329=)
c.920G>C (n.920G>C)
c.584G>C (n.584G>C)
c.7002G>C (p.Gly2334=)
c.267G>C (p.Gly89=)
n.523G>C
c.7182G>C (p.Gly2394=)
c.7116G>C (p.Gly2372=)
c.7179G>C (p.Gly2393=)
c.7176G>C (p.Gly2392=)
c.7122G>C (p.Gly2374=)
c.7092G>C (p.Gly2364=)
c.7047G>C (p.Gly2349=)
c.6642G>C (p.Gly2214=)
c.6000G>C (p.Gly2000=)
c.3510G>C (p.Gly1170=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798511G=CA1918878477CDH23c.6987G= (p.Gly2329=)
c.920G= (n.920G=)
c.584G= (n.584G=)
c.7002G= (p.Gly2334=)
c.267G= (p.Gly89=)
n.523G=
c.7182G= (p.Gly2394=)
c.7116G= (p.Gly2372=)
c.7179G= (p.Gly2393=)
c.7176G= (p.Gly2392=)
c.7122G= (p.Gly2374=)
c.7092G= (p.Gly2364=)
c.7047G= (p.Gly2349=)
c.6642G= (p.Gly2214=)
c.6000G= (p.Gly2000=)
c.3510G= (p.Gly1170=)
10g.71798511G>TCA470062092CDH23c.6987G>T (p.Gly2329=)
c.920G>T (n.920G>T)
c.584G>T (n.584G>T)
c.7002G>T (p.Gly2334=)
c.267G>T (p.Gly89=)
n.523G>T
c.7182G>T (p.Gly2394=)
c.7116G>T (p.Gly2372=)
c.7179G>T (p.Gly2393=)
c.7176G>T (p.Gly2392=)
c.7122G>T (p.Gly2374=)
c.7092G>T (p.Gly2364=)
c.7047G>T (p.Gly2349=)
c.6642G>T (p.Gly2214=)
c.6000G>T (p.Gly2000=)
c.3510G>T (p.Gly1170=)
 gnomAD v4
10g.71798512C>ACA377158182CDH23c.6988C>A (p.Leu2330Met)
c.921C>A (n.921C>A)
c.585C>A (n.585C>A)
c.7003C>A (p.Leu2335Met)
c.268C>A (p.Leu90Met)
n.524C>A
c.7183C>A (p.Leu2395Met)
c.7117C>A (p.Leu2373Met)
c.7180C>A (p.Leu2394Met)
c.7177C>A (p.Leu2393Met)
c.7123C>A (p.Leu2375Met)
c.7093C>A (p.Leu2365Met)
c.7048C>A (p.Leu2350Met)
c.6643C>A (p.Leu2215Met)
c.6001C>A (p.Leu2001Met)
c.3511C>A (p.Leu1171Met)
10g.71798512C=CA1918878478CDH23c.6988C= (p.Leu2330=)
c.921C= (n.921C=)
c.585C= (n.585C=)
c.7003C= (p.Leu2335=)
c.268C= (p.Leu90=)
n.524C=
c.7183C= (p.Leu2395=)
c.7117C= (p.Leu2373=)
c.7180C= (p.Leu2394=)
c.7177C= (p.Leu2393=)
c.7123C= (p.Leu2375=)
c.7093C= (p.Leu2365=)
c.7048C= (p.Leu2350=)
c.6643C= (p.Leu2215=)
c.6001C= (p.Leu2001=)
c.3511C= (p.Leu1171=)
10g.71798512C>GCA377158183CDH23c.6988C>G (p.Leu2330Val)
c.921C>G (n.921C>G)
c.585C>G (n.585C>G)
c.7003C>G (p.Leu2335Val)
c.268C>G (p.Leu90Val)
n.524C>G
c.7183C>G (p.Leu2395Val)
c.7117C>G (p.Leu2373Val)
c.7180C>G (p.Leu2394Val)
c.7177C>G (p.Leu2393Val)
c.7123C>G (p.Leu2375Val)
c.7093C>G (p.Leu2365Val)
c.7048C>G (p.Leu2350Val)
c.6643C>G (p.Leu2215Val)
c.6001C>G (p.Leu2001Val)
c.3511C>G (p.Leu1171Val)
10g.71798512C>TCA470062093CDH23c.6988C>T (p.Leu2330=)
c.921C>T (n.921C>T)
c.585C>T (n.585C>T)
c.7003C>T (p.Leu2335=)
c.268C>T (p.Leu90=)
n.524C>T
c.7183C>T (p.Leu2395=)
c.7117C>T (p.Leu2373=)
c.7180C>T (p.Leu2394=)
c.7177C>T (p.Leu2393=)
c.7123C>T (p.Leu2375=)
c.7093C>T (p.Leu2365=)
c.7048C>T (p.Leu2350=)
c.6643C>T (p.Leu2215=)
c.6001C>T (p.Leu2001=)
c.3511C>T (p.Leu1171=)
 dbSNP
10g.71798513T>ACA377158186CDH23c.6989T>A (p.Leu2330Gln)
c.922T>A (n.922T>A)
c.586T>A (n.586T>A)
c.7004T>A (p.Leu2335Gln)
c.269T>A (p.Leu90Gln)
n.525T>A
c.7184T>A (p.Leu2395Gln)
c.7118T>A (p.Leu2373Gln)
c.7181T>A (p.Leu2394Gln)
c.7178T>A (p.Leu2393Gln)
c.7124T>A (p.Leu2375Gln)
c.7094T>A (p.Leu2365Gln)
c.7049T>A (p.Leu2350Gln)
c.6644T>A (p.Leu2215Gln)
c.6002T>A (p.Leu2001Gln)
c.3512T>A (p.Leu1171Gln)
 dbSNP
10g.71798513T>CCA377158187CDH23c.6989T>C (p.Leu2330Pro)
c.922T>C (n.922T>C)
c.586T>C (n.586T>C)
c.7004T>C (p.Leu2335Pro)
c.269T>C (p.Leu90Pro)
n.525T>C
c.7184T>C (p.Leu2395Pro)
c.7118T>C (p.Leu2373Pro)
c.7181T>C (p.Leu2394Pro)
c.7178T>C (p.Leu2393Pro)
c.7124T>C (p.Leu2375Pro)
c.7094T>C (p.Leu2365Pro)
c.7049T>C (p.Leu2350Pro)
c.6644T>C (p.Leu2215Pro)
c.6002T>C (p.Leu2001Pro)
c.3512T>C (p.Leu1171Pro)
10g.71798513T>GCA377158188CDH23c.6989T>G (p.Leu2330Arg)
c.922T>G (n.922T>G)
c.586T>G (n.586T>G)
c.7004T>G (p.Leu2335Arg)
c.269T>G (p.Leu90Arg)
n.525T>G
c.7184T>G (p.Leu2395Arg)
c.7118T>G (p.Leu2373Arg)
c.7181T>G (p.Leu2394Arg)
c.7178T>G (p.Leu2393Arg)
c.7124T>G (p.Leu2375Arg)
c.7094T>G (p.Leu2365Arg)
c.7049T>G (p.Leu2350Arg)
c.6644T>G (p.Leu2215Arg)
c.6002T>G (p.Leu2001Arg)
c.3512T>G (p.Leu1171Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.71798513T=CA1918878479CDH23c.6989T= (p.Leu2330=)
c.922T= (n.922T=)
c.586T= (n.586T=)
c.7004T= (p.Leu2335=)
c.269T= (p.Leu90=)
n.525T=
c.7184T= (p.Leu2395=)
c.7118T= (p.Leu2373=)
c.7181T= (p.Leu2394=)
c.7178T= (p.Leu2393=)
c.7124T= (p.Leu2375=)
c.7094T= (p.Leu2365=)
c.7049T= (p.Leu2350=)
c.6644T= (p.Leu2215=)
c.6002T= (p.Leu2001=)
c.3512T= (p.Leu1171=)
10g.71798514G>ACA470062094CDH23c.6990G>A (p.Leu2330=)
c.923G>A (n.923G>A)
c.587G>A (n.587G>A)
c.7005G>A (p.Leu2335=)
c.270G>A (p.Leu90=)
n.526G>A
c.7185G>A (p.Leu2395=)
c.7119G>A (p.Leu2373=)
c.7182G>A (p.Leu2394=)
c.7179G>A (p.Leu2393=)
c.7125G>A (p.Leu2375=)
c.7095G>A (p.Leu2365=)
c.7050G>A (p.Leu2350=)
c.6645G>A (p.Leu2215=)
c.6003G>A (p.Leu2001=)
c.3513G>A (p.Leu1171=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798514G>CCA470062095CDH23c.6990G>C (p.Leu2330=)
c.923G>C (n.923G>C)
c.587G>C (n.587G>C)
c.7005G>C (p.Leu2335=)
c.270G>C (p.Leu90=)
n.526G>C
c.7185G>C (p.Leu2395=)
c.7119G>C (p.Leu2373=)
c.7182G>C (p.Leu2394=)
c.7179G>C (p.Leu2393=)
c.7125G>C (p.Leu2375=)
c.7095G>C (p.Leu2365=)
c.7050G>C (p.Leu2350=)
c.6645G>C (p.Leu2215=)
c.6003G>C (p.Leu2001=)
c.3513G>C (p.Leu1171=)
10g.71798514G=CA1918878480CDH23c.6990G= (p.Leu2330=)
c.923G= (n.923G=)
c.587G= (n.587G=)
c.7005G= (p.Leu2335=)
c.270G= (p.Leu90=)
n.526G=
c.7185G= (p.Leu2395=)
c.7119G= (p.Leu2373=)
c.7182G= (p.Leu2394=)
c.7179G= (p.Leu2393=)
c.7125G= (p.Leu2375=)
c.7095G= (p.Leu2365=)
c.7050G= (p.Leu2350=)
c.6645G= (p.Leu2215=)
c.6003G= (p.Leu2001=)
c.3513G= (p.Leu1171=)
10g.71798514G>TCA137558CDH23c.6990G>T (p.Leu2330=)
c.923G>T (n.923G>T)
c.587G>T (n.587G>T)
c.7005G>T (p.Leu2335=)
c.270G>T (p.Leu90=)
n.526G>T
c.7185G>T (p.Leu2395=)
c.7119G>T (p.Leu2373=)
c.7182G>T (p.Leu2394=)
c.7179G>T (p.Leu2393=)
c.7125G>T (p.Leu2375=)
c.7095G>T (p.Leu2365=)
c.7050G>T (p.Leu2350=)
c.6645G>T (p.Leu2215=)
c.6003G>T (p.Leu2001=)
c.3513G>T (p.Leu1171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798515G>ACA377158198CDH23c.6991G>A (p.Val2331Ile)
c.924G>A (n.924G>A)
c.588G>A (n.588G>A)
c.7006G>A (p.Val2336Ile)
c.271G>A (p.Val91Ile)
n.527G>A
c.7186G>A (p.Val2396Ile)
c.7120G>A (p.Val2374Ile)
c.7183G>A (p.Val2395Ile)
c.7180G>A (p.Val2394Ile)
c.7126G>A (p.Val2376Ile)
c.7096G>A (p.Val2366Ile)
c.7051G>A (p.Val2351Ile)
c.6646G>A (p.Val2216Ile)
c.6004G>A (p.Val2002Ile)
c.3514G>A (p.Val1172Ile)
 gnomAD v4
10g.71798515G>CCA377158200CDH23c.6991G>C (p.Val2331Leu)
c.924G>C (n.924G>C)
c.588G>C (n.588G>C)
c.7006G>C (p.Val2336Leu)
c.271G>C (p.Val91Leu)
n.527G>C
c.7186G>C (p.Val2396Leu)
c.7120G>C (p.Val2374Leu)
c.7183G>C (p.Val2395Leu)
c.7180G>C (p.Val2394Leu)
c.7126G>C (p.Val2376Leu)
c.7096G>C (p.Val2366Leu)
c.7051G>C (p.Val2351Leu)
c.6646G>C (p.Val2216Leu)
c.6004G>C (p.Val2002Leu)
c.3514G>C (p.Val1172Leu)
10g.71798515G>TCA377158204CDH23c.6991G>T (p.Val2331Phe)
c.924G>T (n.924G>T)
c.588G>T (n.588G>T)
c.7006G>T (p.Val2336Phe)
c.271G>T (p.Val91Phe)
n.527G>T
c.7186G>T (p.Val2396Phe)
c.7120G>T (p.Val2374Phe)
c.7183G>T (p.Val2395Phe)
c.7180G>T (p.Val2394Phe)
c.7126G>T (p.Val2376Phe)
c.7096G>T (p.Val2366Phe)
c.7051G>T (p.Val2351Phe)
c.6646G>T (p.Val2216Phe)
c.6004G>T (p.Val2002Phe)
c.3514G>T (p.Val1172Phe)
10g.71798516T>ACA377158207CDH23c.6992T>A (p.Val2331Asp)
c.925T>A (n.925T>A)
c.589T>A (n.589T>A)
c.7007T>A (p.Val2336Asp)
c.272T>A (p.Val91Asp)
n.528T>A
c.7187T>A (p.Val2396Asp)
c.7121T>A (p.Val2374Asp)
c.7184T>A (p.Val2395Asp)
c.7181T>A (p.Val2394Asp)
c.7127T>A (p.Val2376Asp)
c.7097T>A (p.Val2366Asp)
c.7052T>A (p.Val2351Asp)
c.6647T>A (p.Val2216Asp)
c.6005T>A (p.Val2002Asp)
c.3515T>A (p.Val1172Asp)
10g.71798516T>CCA377158216CDH23c.6992T>C (p.Val2331Ala)
c.925T>C (n.925T>C)
c.589T>C (n.589T>C)
c.7007T>C (p.Val2336Ala)
c.272T>C (p.Val91Ala)
n.528T>C
c.7187T>C (p.Val2396Ala)
c.7121T>C (p.Val2374Ala)
c.7184T>C (p.Val2395Ala)
c.7181T>C (p.Val2394Ala)
c.7127T>C (p.Val2376Ala)
c.7097T>C (p.Val2366Ala)
c.7052T>C (p.Val2351Ala)
c.6647T>C (p.Val2216Ala)
c.6005T>C (p.Val2002Ala)
c.3515T>C (p.Val1172Ala)
 ClinVar dbSNP
10g.71798516T>GCA377158210CDH23c.6992T>G (p.Val2331Gly)
c.925T>G (n.925T>G)
c.589T>G (n.589T>G)
c.7007T>G (p.Val2336Gly)
c.272T>G (p.Val91Gly)
n.528T>G
c.7187T>G (p.Val2396Gly)
c.7121T>G (p.Val2374Gly)
c.7184T>G (p.Val2395Gly)
c.7181T>G (p.Val2394Gly)
c.7127T>G (p.Val2376Gly)
c.7097T>G (p.Val2366Gly)
c.7052T>G (p.Val2351Gly)
c.6647T>G (p.Val2216Gly)
c.6005T>G (p.Val2002Gly)
c.3515T>G (p.Val1172Gly)
10g.71798517C>ACA470062098CDH23c.6993C>A (p.Val2331=)
c.926C>A (n.926C>A)
c.590C>A (n.590C>A)
c.7008C>A (p.Val2336=)
c.273C>A (p.Val91=)
n.529C>A
c.7188C>A (p.Val2396=)
c.7122C>A (p.Val2374=)
c.7185C>A (p.Val2395=)
c.7182C>A (p.Val2394=)
c.7128C>A (p.Val2376=)
c.7098C>A (p.Val2366=)
c.7053C>A (p.Val2351=)
c.6648C>A (p.Val2216=)
c.6006C>A (p.Val2002=)
c.3516C>A (p.Val1172=)
10g.71798517C=CA1918878481CDH23c.6993C= (p.Val2331=)
c.926C= (n.926C=)
c.590C= (n.590C=)
c.7008C= (p.Val2336=)
c.273C= (p.Val91=)
n.529C=
c.7188C= (p.Val2396=)
c.7122C= (p.Val2374=)
c.7185C= (p.Val2395=)
c.7182C= (p.Val2394=)
c.7128C= (p.Val2376=)
c.7098C= (p.Val2366=)
c.7053C= (p.Val2351=)
c.6648C= (p.Val2216=)
c.6006C= (p.Val2002=)
c.3516C= (p.Val1172=)
10g.71798517C>GCA5546228CDH23c.6993C>G (p.Val2331=)
c.926C>G (n.926C>G)
c.590C>G (n.590C>G)
c.7008C>G (p.Val2336=)
c.273C>G (p.Val91=)
n.529C>G
c.7188C>G (p.Val2396=)
c.7122C>G (p.Val2374=)
c.7185C>G (p.Val2395=)
c.7182C>G (p.Val2394=)
c.7128C>G (p.Val2376=)
c.7098C>G (p.Val2366=)
c.7053C>G (p.Val2351=)
c.6648C>G (p.Val2216=)
c.6006C>G (p.Val2002=)
c.3516C>G (p.Val1172=)
 ClinVar dbSNP ExAC gnomAD v4
10g.71798517C>TCA470062099CDH23c.6993C>T (p.Val2331=)
c.926C>T (n.926C>T)
c.590C>T (n.590C>T)
c.7008C>T (p.Val2336=)
c.273C>T (p.Val91=)
n.529C>T
c.7188C>T (p.Val2396=)
c.7122C>T (p.Val2374=)
c.7185C>T (p.Val2395=)
c.7182C>T (p.Val2394=)
c.7128C>T (p.Val2376=)
c.7098C>T (p.Val2366=)
c.7053C>T (p.Val2351=)
c.6648C>T (p.Val2216=)
c.6006C>T (p.Val2002=)
c.3516C>T (p.Val1172=)
10g.71798518A>CCA377158220CDH23c.6994A>C (p.Thr2332Pro)
c.927A>C (n.927A>C)
c.591A>C (n.591A>C)
c.7009A>C (p.Thr2337Pro)
c.274A>C (p.Thr92Pro)
n.530A>C
c.7189A>C (p.Thr2397Pro)
c.7123A>C (p.Thr2375Pro)
c.7186A>C (p.Thr2396Pro)
c.7183A>C (p.Thr2395Pro)
c.7129A>C (p.Thr2377Pro)
c.7099A>C (p.Thr2367Pro)
c.7054A>C (p.Thr2352Pro)
c.6649A>C (p.Thr2217Pro)
c.6007A>C (p.Thr2003Pro)
c.3517A>C (p.Thr1173Pro)
10g.71798518A>GCA377158223CDH23c.6994A>G (p.Thr2332Ala)
c.927A>G (n.927A>G)
c.591A>G (n.591A>G)
c.7009A>G (p.Thr2337Ala)
c.274A>G (p.Thr92Ala)
n.530A>G
c.7189A>G (p.Thr2397Ala)
c.7123A>G (p.Thr2375Ala)
c.7186A>G (p.Thr2396Ala)
c.7183A>G (p.Thr2395Ala)
c.7129A>G (p.Thr2377Ala)
c.7099A>G (p.Thr2367Ala)
c.7054A>G (p.Thr2352Ala)
c.6649A>G (p.Thr2217Ala)
c.6007A>G (p.Thr2003Ala)
c.3517A>G (p.Thr1173Ala)
10g.71798518A>TCA377158226CDH23c.6994A>T (p.Thr2332Ser)
c.927A>T (n.927A>T)
c.591A>T (n.591A>T)
c.7009A>T (p.Thr2337Ser)
c.274A>T (p.Thr92Ser)
n.530A>T
c.7189A>T (p.Thr2397Ser)
c.7123A>T (p.Thr2375Ser)
c.7186A>T (p.Thr2396Ser)
c.7183A>T (p.Thr2395Ser)
c.7129A>T (p.Thr2377Ser)
c.7099A>T (p.Thr2367Ser)
c.7054A>T (p.Thr2352Ser)
c.6649A>T (p.Thr2217Ser)
c.6007A>T (p.Thr2003Ser)
c.3517A>T (p.Thr1173Ser)
10g.71798519C>ACA377158230CDH23c.6995C>A (p.Thr2332Asn)
c.928C>A (n.928C>A)
c.592C>A (n.592C>A)
c.7010C>A (p.Thr2337Asn)
c.275C>A (p.Thr92Asn)
n.531C>A
c.7190C>A (p.Thr2397Asn)
c.7124C>A (p.Thr2375Asn)
c.7187C>A (p.Thr2396Asn)
c.7184C>A (p.Thr2395Asn)
c.7130C>A (p.Thr2377Asn)
c.7100C>A (p.Thr2367Asn)
c.7055C>A (p.Thr2352Asn)
c.6650C>A (p.Thr2217Asn)
c.6008C>A (p.Thr2003Asn)
c.3518C>A (p.Thr1173Asn)
10g.71798519C=CA1918878482CDH23c.6995C= (p.Thr2332=)
c.928C= (n.928C=)
c.592C= (n.592C=)
c.7010C= (p.Thr2337=)
c.275C= (p.Thr92=)
n.531C=
c.7190C= (p.Thr2397=)
c.7124C= (p.Thr2375=)
c.7187C= (p.Thr2396=)
c.7184C= (p.Thr2395=)
c.7130C= (p.Thr2377=)
c.7100C= (p.Thr2367=)
c.7055C= (p.Thr2352=)
c.6650C= (p.Thr2217=)
c.6008C= (p.Thr2003=)
c.3518C= (p.Thr1173=)
10g.71798519C>GCA377158235CDH23c.6995C>G (p.Thr2332Ser)
c.928C>G (n.928C>G)
c.592C>G (n.592C>G)
c.7010C>G (p.Thr2337Ser)
c.275C>G (p.Thr92Ser)
n.531C>G
c.7190C>G (p.Thr2397Ser)
c.7124C>G (p.Thr2375Ser)
c.7187C>G (p.Thr2396Ser)
c.7184C>G (p.Thr2395Ser)
c.7130C>G (p.Thr2377Ser)
c.7100C>G (p.Thr2367Ser)
c.7055C>G (p.Thr2352Ser)
c.6650C>G (p.Thr2217Ser)
c.6008C>G (p.Thr2003Ser)
c.3518C>G (p.Thr1173Ser)
10g.71798519C>TCA377158241CDH23c.6995C>T (p.Thr2332Ile)
c.928C>T (n.928C>T)
c.592C>T (n.592C>T)
c.7010C>T (p.Thr2337Ile)
c.275C>T (p.Thr92Ile)
n.531C>T
c.7190C>T (p.Thr2397Ile)
c.7124C>T (p.Thr2375Ile)
c.7187C>T (p.Thr2396Ile)
c.7184C>T (p.Thr2395Ile)
c.7130C>T (p.Thr2377Ile)
c.7100C>T (p.Thr2367Ile)
c.7055C>T (p.Thr2352Ile)
c.6650C>T (p.Thr2217Ile)
c.6008C>T (p.Thr2003Ile)
c.3518C>T (p.Thr1173Ile)
 dbSNP
10g.71798520C>ACA470062100CDH23c.6996C>A (p.Thr2332=)
c.929C>A (n.929C>A)
c.593C>A (n.593C>A)
c.7011C>A (p.Thr2337=)
c.276C>A (p.Thr92=)
n.532C>A
c.7191C>A (p.Thr2397=)
c.7125C>A (p.Thr2375=)
c.7188C>A (p.Thr2396=)
c.7185C>A (p.Thr2395=)
c.7131C>A (p.Thr2377=)
c.7101C>A (p.Thr2367=)
c.7056C>A (p.Thr2352=)
c.6651C>A (p.Thr2217=)
c.6009C>A (p.Thr2003=)
c.3519C>A (p.Thr1173=)
10g.71798520C>GCA470062102CDH23c.6996C>G (p.Thr2332=)
c.929C>G (n.929C>G)
c.593C>G (n.593C>G)
c.7011C>G (p.Thr2337=)
c.276C>G (p.Thr92=)
n.532C>G
c.7191C>G (p.Thr2397=)
c.7125C>G (p.Thr2375=)
c.7188C>G (p.Thr2396=)
c.7185C>G (p.Thr2395=)
c.7131C>G (p.Thr2377=)
c.7101C>G (p.Thr2367=)
c.7056C>G (p.Thr2352=)
c.6651C>G (p.Thr2217=)
c.6009C>G (p.Thr2003=)
c.3519C>G (p.Thr1173=)
10g.71798520C>TCA470062103CDH23c.6996C>T (p.Thr2332=)
c.929C>T (n.929C>T)
c.593C>T (n.593C>T)
c.7011C>T (p.Thr2337=)
c.276C>T (p.Thr92=)
n.532C>T
c.7191C>T (p.Thr2397=)
c.7125C>T (p.Thr2375=)
c.7188C>T (p.Thr2396=)
c.7185C>T (p.Thr2395=)
c.7131C>T (p.Thr2377=)
c.7101C>T (p.Thr2367=)
c.7056C>T (p.Thr2352=)
c.6651C>T (p.Thr2217=)
c.6009C>T (p.Thr2003=)
c.3519C>T (p.Thr1173=)
 gnomAD v4
10g.71798521T>ACA377158243CDH23c.6997T>A (p.Tyr2333Asn)
c.930T>A (n.930T>A)
c.594T>A (n.594T>A)
c.7012T>A (p.Tyr2338Asn)
c.277T>A (p.Tyr93Asn)
n.533T>A
c.7192T>A (p.Tyr2398Asn)
c.7126T>A (p.Tyr2376Asn)
c.7189T>A (p.Tyr2397Asn)
c.7186T>A (p.Tyr2396Asn)
c.7132T>A (p.Tyr2378Asn)
c.7102T>A (p.Tyr2368Asn)
c.7057T>A (p.Tyr2353Asn)
c.6652T>A (p.Tyr2218Asn)
c.6010T>A (p.Tyr2004Asn)
c.3520T>A (p.Tyr1174Asn)
10g.71798521T>CCA209469662CDH23c.6997T>C (p.Tyr2333His)
c.930T>C (n.930T>C)
c.594T>C (n.594T>C)
c.7012T>C (p.Tyr2338His)
c.277T>C (p.Tyr93His)
n.533T>C
c.7192T>C (p.Tyr2398His)
c.7126T>C (p.Tyr2376His)
c.7189T>C (p.Tyr2397His)
c.7186T>C (p.Tyr2396His)
c.7132T>C (p.Tyr2378His)
c.7102T>C (p.Tyr2368His)
c.7057T>C (p.Tyr2353His)
c.6652T>C (p.Tyr2218His)
c.6010T>C (p.Tyr2004His)
c.3520T>C (p.Tyr1174His)
 dbSNP
10g.71798521T>GCA377158247CDH23c.6997T>G (p.Tyr2333Asp)
c.930T>G (n.930T>G)
c.594T>G (n.594T>G)
c.7012T>G (p.Tyr2338Asp)
c.277T>G (p.Tyr93Asp)
n.533T>G
c.7192T>G (p.Tyr2398Asp)
c.7126T>G (p.Tyr2376Asp)
c.7189T>G (p.Tyr2397Asp)
c.7186T>G (p.Tyr2396Asp)
c.7132T>G (p.Tyr2378Asp)
c.7102T>G (p.Tyr2368Asp)
c.7057T>G (p.Tyr2353Asp)
c.6652T>G (p.Tyr2218Asp)
c.6010T>G (p.Tyr2004Asp)
c.3520T>G (p.Tyr1174Asp)
10g.71798521T=CA1918878483CDH23c.6997T= (p.Tyr2333=)
c.930T= (n.930T=)
c.594T= (n.594T=)
c.7012T= (p.Tyr2338=)
c.277T= (p.Tyr93=)
n.533T=
c.7192T= (p.Tyr2398=)
c.7126T= (p.Tyr2376=)
c.7189T= (p.Tyr2397=)
c.7186T= (p.Tyr2396=)
c.7132T= (p.Tyr2378=)
c.7102T= (p.Tyr2368=)
c.7057T= (p.Tyr2353=)
c.6652T= (p.Tyr2218=)
c.6010T= (p.Tyr2004=)
c.3520T= (p.Tyr1174=)
10g.71798522A>CCA377158249CDH23c.6998A>C (p.Tyr2333Ser)
c.931A>C (n.931A>C)
c.595A>C (n.595A>C)
c.7013A>C (p.Tyr2338Ser)
c.278A>C (p.Tyr93Ser)
n.534A>C
c.7193A>C (p.Tyr2398Ser)
c.7127A>C (p.Tyr2376Ser)
c.7190A>C (p.Tyr2397Ser)
c.7187A>C (p.Tyr2396Ser)
c.7133A>C (p.Tyr2378Ser)
c.7103A>C (p.Tyr2368Ser)
c.7058A>C (p.Tyr2353Ser)
c.6653A>C (p.Tyr2218Ser)
c.6011A>C (p.Tyr2004Ser)
c.3521A>C (p.Tyr1174Ser)
10g.71798522A>GCA377158250CDH23c.6998A>G (p.Tyr2333Cys)
c.931A>G (n.931A>G)
c.595A>G (n.595A>G)
c.7013A>G (p.Tyr2338Cys)
c.278A>G (p.Tyr93Cys)
n.534A>G
c.7193A>G (p.Tyr2398Cys)
c.7127A>G (p.Tyr2376Cys)
c.7190A>G (p.Tyr2397Cys)
c.7187A>G (p.Tyr2396Cys)
c.7133A>G (p.Tyr2378Cys)
c.7103A>G (p.Tyr2368Cys)
c.7058A>G (p.Tyr2353Cys)
c.6653A>G (p.Tyr2218Cys)
c.6011A>G (p.Tyr2004Cys)
c.3521A>G (p.Tyr1174Cys)
10g.71798522A>TCA377158251CDH23c.6998A>T (p.Tyr2333Phe)
c.931A>T (n.931A>T)
c.595A>T (n.595A>T)
c.7013A>T (p.Tyr2338Phe)
c.278A>T (p.Tyr93Phe)
n.534A>T
c.7193A>T (p.Tyr2398Phe)
c.7127A>T (p.Tyr2376Phe)
c.7190A>T (p.Tyr2397Phe)
c.7187A>T (p.Tyr2396Phe)
c.7133A>T (p.Tyr2378Phe)
c.7103A>T (p.Tyr2368Phe)
c.7058A>T (p.Tyr2353Phe)
c.6653A>T (p.Tyr2218Phe)
c.6011A>T (p.Tyr2004Phe)
c.3521A>T (p.Tyr1174Phe)
10g.71798523C>ACA377158252CDH23c.6999C>A (p.Tyr2333Ter)
c.932C>A (n.932C>A)
c.596C>A (n.596C>A)
c.7014C>A (p.Tyr2338Ter)
c.279C>A (p.Tyr93Ter)
n.535C>A
c.7194C>A (p.Tyr2398Ter)
c.7128C>A (p.Tyr2376Ter)
c.7191C>A (p.Tyr2397Ter)
c.7188C>A (p.Tyr2396Ter)
c.7134C>A (p.Tyr2378Ter)
c.7104C>A (p.Tyr2368Ter)
c.7059C>A (p.Tyr2353Ter)
c.6654C>A (p.Tyr2218Ter)
c.6012C>A (p.Tyr2004Ter)
c.3522C>A (p.Tyr1174Ter)
10g.71798523C=CA1918878484CDH23c.6999C= (p.Tyr2333=)
c.932C= (n.932C=)
c.596C= (n.596C=)
c.7014C= (p.Tyr2338=)
c.279C= (p.Tyr93=)
n.535C=
c.7194C= (p.Tyr2398=)
c.7128C= (p.Tyr2376=)
c.7191C= (p.Tyr2397=)
c.7188C= (p.Tyr2396=)
c.7134C= (p.Tyr2378=)
c.7104C= (p.Tyr2368=)
c.7059C= (p.Tyr2353=)
c.6654C= (p.Tyr2218=)
c.6012C= (p.Tyr2004=)
c.3522C= (p.Tyr1174=)
10g.71798523C>GCA377158253CDH23c.6999C>G (p.Tyr2333Ter)
c.932C>G (n.932C>G)
c.596C>G (n.596C>G)
c.7014C>G (p.Tyr2338Ter)
c.279C>G (p.Tyr93Ter)
n.535C>G
c.7194C>G (p.Tyr2398Ter)
c.7128C>G (p.Tyr2376Ter)
c.7191C>G (p.Tyr2397Ter)
c.7188C>G (p.Tyr2396Ter)
c.7134C>G (p.Tyr2378Ter)
c.7104C>G (p.Tyr2368Ter)
c.7059C>G (p.Tyr2353Ter)
c.6654C>G (p.Tyr2218Ter)
c.6012C>G (p.Tyr2004Ter)
c.3522C>G (p.Tyr1174Ter)
10g.71798523C>TCA209469663CDH23c.6999C>T (p.Tyr2333=)
c.932C>T (n.932C>T)
c.596C>T (n.596C>T)
c.7014C>T (p.Tyr2338=)
c.279C>T (p.Tyr93=)
n.535C>T
c.7194C>T (p.Tyr2398=)
c.7128C>T (p.Tyr2376=)
c.7191C>T (p.Tyr2397=)
c.7188C>T (p.Tyr2396=)
c.7134C>T (p.Tyr2378=)
c.7104C>T (p.Tyr2368=)
c.7059C>T (p.Tyr2353=)
c.6654C>T (p.Tyr2218=)
c.6012C>T (p.Tyr2004=)
c.3522C>T (p.Tyr1174=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798524A>CCA377158255CDH23c.7000A>C (p.Thr2334Pro)
c.933A>C (n.933A>C)
c.597A>C (n.597A>C)
c.7015A>C (p.Thr2339Pro)
c.280A>C (p.Thr94Pro)
n.536A>C
c.7195A>C (p.Thr2399Pro)
c.7129A>C (p.Thr2377Pro)
c.7192A>C (p.Thr2398Pro)
c.7189A>C (p.Thr2397Pro)
c.7135A>C (p.Thr2379Pro)
c.7105A>C (p.Thr2369Pro)
c.7060A>C (p.Thr2354Pro)
c.6655A>C (p.Thr2219Pro)
c.6013A>C (p.Thr2005Pro)
c.3523A>C (p.Thr1175Pro)
10g.71798524A>GCA377158263CDH23c.7000A>G (p.Thr2334Ala)
c.933A>G (n.933A>G)
c.597A>G (n.597A>G)
c.7015A>G (p.Thr2339Ala)
c.280A>G (p.Thr94Ala)
n.536A>G
c.7195A>G (p.Thr2399Ala)
c.7129A>G (p.Thr2377Ala)
c.7192A>G (p.Thr2398Ala)
c.7189A>G (p.Thr2397Ala)
c.7135A>G (p.Thr2379Ala)
c.7105A>G (p.Thr2369Ala)
c.7060A>G (p.Thr2354Ala)
c.6655A>G (p.Thr2219Ala)
c.6013A>G (p.Thr2005Ala)
c.3523A>G (p.Thr1175Ala)
10g.71798524A>TCA377158266CDH23c.7000A>T (p.Thr2334Ser)
c.933A>T (n.933A>T)
c.597A>T (n.597A>T)
c.7015A>T (p.Thr2339Ser)
c.280A>T (p.Thr94Ser)
n.536A>T
c.7195A>T (p.Thr2399Ser)
c.7129A>T (p.Thr2377Ser)
c.7192A>T (p.Thr2398Ser)
c.7189A>T (p.Thr2397Ser)
c.7135A>T (p.Thr2379Ser)
c.7105A>T (p.Thr2369Ser)
c.7060A>T (p.Thr2354Ser)
c.6655A>T (p.Thr2219Ser)
c.6013A>T (p.Thr2005Ser)
c.3523A>T (p.Thr1175Ser)
10g.71798524_71798525delinsACCA1918878485CDH23c.7000_7001delinsAC (p.Thr2334=)
c.933_934delinsAC (n.933_934delinsAC)
c.597_598delinsAC (n.597_598delinsAC)
c.7015_7016delinsAC (p.Thr2339=)
c.280_281delinsAC (p.Thr94=)
n.536_537delinsAC
c.7195_7196delinsAC (p.Thr2399=)
c.7129_7130delinsAC (p.Thr2377=)
c.7192_7193delinsAC (p.Thr2398=)
c.7189_7190delinsAC (p.Thr2397=)
c.7135_7136delinsAC (p.Thr2379=)
c.7105_7106delinsAC (p.Thr2369=)
c.7060_7061delinsAC (p.Thr2354=)
c.6655_6656delinsAC (p.Thr2219=)
c.6013_6014delinsAC (p.Thr2005=)
c.3523_3524delinsAC (p.Thr1175=)
10g.71798525C>ACA377158269CDH23c.7001C>A (p.Thr2334Asn)
c.934C>A (n.934C>A)
c.598C>A (n.598C>A)
c.7016C>A (p.Thr2339Asn)
c.281C>A (p.Thr94Asn)
n.537C>A
c.7196C>A (p.Thr2399Asn)
c.7130C>A (p.Thr2377Asn)
c.7193C>A (p.Thr2398Asn)
c.7190C>A (p.Thr2397Asn)
c.7136C>A (p.Thr2379Asn)
c.7106C>A (p.Thr2369Asn)
c.7061C>A (p.Thr2354Asn)
c.6656C>A (p.Thr2219Asn)
c.6014C>A (p.Thr2005Asn)
c.3524C>A (p.Thr1175Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.71798525C=CA1918878486CDH23c.7001C= (p.Thr2334=)
c.934C= (n.934C=)
c.598C= (n.598C=)
c.7016C= (p.Thr2339=)
c.281C= (p.Thr94=)
n.537C=
c.7196C= (p.Thr2399=)
c.7130C= (p.Thr2377=)
c.7193C= (p.Thr2398=)
c.7190C= (p.Thr2397=)
c.7136C= (p.Thr2379=)
c.7106C= (p.Thr2369=)
c.7061C= (p.Thr2354=)
c.6656C= (p.Thr2219=)
c.6014C= (p.Thr2005=)
c.3524C= (p.Thr1175=)
10g.71798525C>GCA377158272CDH23c.7001C>G (p.Thr2334Ser)
c.934C>G (n.934C>G)
c.598C>G (n.598C>G)
c.7016C>G (p.Thr2339Ser)
c.281C>G (p.Thr94Ser)
n.537C>G
c.7196C>G (p.Thr2399Ser)
c.7130C>G (p.Thr2377Ser)
c.7193C>G (p.Thr2398Ser)
c.7190C>G (p.Thr2397Ser)
c.7136C>G (p.Thr2379Ser)
c.7106C>G (p.Thr2369Ser)
c.7061C>G (p.Thr2354Ser)
c.6656C>G (p.Thr2219Ser)
c.6014C>G (p.Thr2005Ser)
c.3524C>G (p.Thr1175Ser)
10g.71798525C>TCA377158273CDH23c.7001C>T (p.Thr2334Ile)
c.934C>T (n.934C>T)
c.598C>T (n.598C>T)
c.7016C>T (p.Thr2339Ile)
c.281C>T (p.Thr94Ile)
n.537C>T
c.7196C>T (p.Thr2399Ile)
c.7130C>T (p.Thr2377Ile)
c.7193C>T (p.Thr2398Ile)
c.7190C>T (p.Thr2397Ile)
c.7136C>T (p.Thr2379Ile)
c.7106C>T (p.Thr2369Ile)
c.7061C>T (p.Thr2354Ile)
c.6656C>T (p.Thr2219Ile)
c.6014C>T (p.Thr2005Ile)
c.3524C>T (p.Thr1175Ile)
 ClinVar dbSNP gnomAD v4
10g.71798527delCA594706180CDH23c.7003del (p.Leu2335CysfsTer?)
c.936del (n.936del)
c.600del (n.600del)
c.7018del (p.Leu2340CysfsTer?)
c.283del (p.Leu95CysfsTer?)
n.539del
c.7198del (p.Leu2400CysfsTer?)
c.7132del (p.Leu2378CysfsTer?)
c.7195del (p.Leu2399CysfsTer?)
c.7192del (p.Leu2398CysfsTer?)
c.7138del (p.Leu2380CysfsTer?)
c.7108del (p.Leu2370CysfsTer?)
c.7063del (p.Leu2355CysfsTer?)
c.6658del (p.Leu2220CysfsTer?)
c.6016del (p.Leu2006CysfsTer?)
c.3526del (p.Leu1176CysfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798526C>ACA470062110CDH23c.7002C>A (p.Thr2334=)
c.935C>A (n.935C>A)
c.599C>A (n.599C>A)
c.7017C>A (p.Thr2339=)
c.282C>A (p.Thr94=)
n.538C>A
c.7197C>A (p.Thr2399=)
c.7131C>A (p.Thr2377=)
c.7194C>A (p.Thr2398=)
c.7191C>A (p.Thr2397=)
c.7137C>A (p.Thr2379=)
c.7107C>A (p.Thr2369=)
c.7062C>A (p.Thr2354=)
c.6657C>A (p.Thr2219=)
c.6015C>A (p.Thr2005=)
c.3525C>A (p.Thr1175=)
 dbSNP
10g.71798526C=CA1918878487CDH23c.7002C= (p.Thr2334=)
c.935C= (n.935C=)
c.599C= (n.599C=)
c.7017C= (p.Thr2339=)
c.282C= (p.Thr94=)
n.538C=
c.7197C= (p.Thr2399=)
c.7131C= (p.Thr2377=)
c.7194C= (p.Thr2398=)
c.7191C= (p.Thr2397=)
c.7137C= (p.Thr2379=)
c.7107C= (p.Thr2369=)
c.7062C= (p.Thr2354=)
c.6657C= (p.Thr2219=)
c.6015C= (p.Thr2005=)
c.3525C= (p.Thr1175=)
10g.71798526C>GCA470062108CDH23c.7002C>G (p.Thr2334=)
c.935C>G (n.935C>G)
c.599C>G (n.599C>G)
c.7017C>G (p.Thr2339=)
c.282C>G (p.Thr94=)
n.538C>G
c.7197C>G (p.Thr2399=)
c.7131C>G (p.Thr2377=)
c.7194C>G (p.Thr2398=)
c.7191C>G (p.Thr2397=)
c.7137C>G (p.Thr2379=)
c.7107C>G (p.Thr2369=)
c.7062C>G (p.Thr2354=)
c.6657C>G (p.Thr2219=)
c.6015C>G (p.Thr2005=)
c.3525C>G (p.Thr1175=)
10g.71798526C>TCA470062107CDH23c.7002C>T (p.Thr2334=)
c.935C>T (n.935C>T)
c.599C>T (n.599C>T)
c.7017C>T (p.Thr2339=)
c.282C>T (p.Thr94=)
n.538C>T
c.7197C>T (p.Thr2399=)
c.7131C>T (p.Thr2377=)
c.7194C>T (p.Thr2398=)
c.7191C>T (p.Thr2397=)
c.7137C>T (p.Thr2379=)
c.7107C>T (p.Thr2369=)
c.7062C>T (p.Thr2354=)
c.6657C>T (p.Thr2219=)
c.6015C>T (p.Thr2005=)
c.3525C>T (p.Thr1175=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798527C>ACA377158274CDH23c.7003C>A (p.Leu2335Met)
c.936C>A (n.936C>A)
c.600C>A (n.600C>A)
c.7018C>A (p.Leu2340Met)
c.283C>A (p.Leu95Met)
n.539C>A
c.7198C>A (p.Leu2400Met)
c.7132C>A (p.Leu2378Met)
c.7195C>A (p.Leu2399Met)
c.7192C>A (p.Leu2398Met)
c.7138C>A (p.Leu2380Met)
c.7108C>A (p.Leu2370Met)
c.7063C>A (p.Leu2355Met)
c.6658C>A (p.Leu2220Met)
c.6016C>A (p.Leu2006Met)
c.3526C>A (p.Leu1176Met)
 dbSNP
10g.71798527C=CA1918878488CDH23c.7003C= (p.Leu2335=)
c.936C= (n.936C=)
c.600C= (n.600C=)
c.7018C= (p.Leu2340=)
c.283C= (p.Leu95=)
n.539C=
c.7198C= (p.Leu2400=)
c.7132C= (p.Leu2378=)
c.7195C= (p.Leu2399=)
c.7192C= (p.Leu2398=)
c.7138C= (p.Leu2380=)
c.7108C= (p.Leu2370=)
c.7063C= (p.Leu2355=)
c.6658C= (p.Leu2220=)
c.6016C= (p.Leu2006=)
c.3526C= (p.Leu1176=)
10g.71798527C>GCA377158275CDH23c.7003C>G (p.Leu2335Val)
c.936C>G (n.936C>G)
c.600C>G (n.600C>G)
c.7018C>G (p.Leu2340Val)
c.283C>G (p.Leu95Val)
n.539C>G
c.7198C>G (p.Leu2400Val)
c.7132C>G (p.Leu2378Val)
c.7195C>G (p.Leu2399Val)
c.7192C>G (p.Leu2398Val)
c.7138C>G (p.Leu2380Val)
c.7108C>G (p.Leu2370Val)
c.7063C>G (p.Leu2355Val)
c.6658C>G (p.Leu2220Val)
c.6016C>G (p.Leu2006Val)
c.3526C>G (p.Leu1176Val)
10g.71798527C>TCA209469664CDH23c.7003C>T (p.Leu2335=)
c.936C>T (n.936C>T)
c.600C>T (n.600C>T)
c.7018C>T (p.Leu2340=)
c.283C>T (p.Leu95=)
n.539C>T
c.7198C>T (p.Leu2400=)
c.7132C>T (p.Leu2378=)
c.7195C>T (p.Leu2399=)
c.7192C>T (p.Leu2398=)
c.7138C>T (p.Leu2380=)
c.7108C>T (p.Leu2370=)
c.7063C>T (p.Leu2355=)
c.6658C>T (p.Leu2220=)
c.6016C>T (p.Leu2006=)
c.3526C>T (p.Leu1176=)
 ClinVar dbSNP
10g.71798528T>ACA377158278CDH23c.7004T>A (p.Leu2335Gln)
c.937T>A (n.937T>A)
c.601T>A (n.601T>A)
c.7019T>A (p.Leu2340Gln)
c.284T>A (p.Leu95Gln)
n.540T>A
c.7199T>A (p.Leu2400Gln)
c.7133T>A (p.Leu2378Gln)
c.7196T>A (p.Leu2399Gln)
c.7193T>A (p.Leu2398Gln)
c.7139T>A (p.Leu2380Gln)
c.7109T>A (p.Leu2370Gln)
c.7064T>A (p.Leu2355Gln)
c.6659T>A (p.Leu2220Gln)
c.6017T>A (p.Leu2006Gln)
c.3527T>A (p.Leu1176Gln)
10g.71798528T>CCA377158280CDH23c.7004T>C (p.Leu2335Pro)
c.937T>C (n.937T>C)
c.601T>C (n.601T>C)
c.7019T>C (p.Leu2340Pro)
c.284T>C (p.Leu95Pro)
n.540T>C
c.7199T>C (p.Leu2400Pro)
c.7133T>C (p.Leu2378Pro)
c.7196T>C (p.Leu2399Pro)
c.7193T>C (p.Leu2398Pro)
c.7139T>C (p.Leu2380Pro)
c.7109T>C (p.Leu2370Pro)
c.7064T>C (p.Leu2355Pro)
c.6659T>C (p.Leu2220Pro)
c.6017T>C (p.Leu2006Pro)
c.3527T>C (p.Leu1176Pro)
10g.71798528T>GCA377158282CDH23c.7004T>G (p.Leu2335Arg)
c.937T>G (n.937T>G)
c.601T>G (n.601T>G)
c.7019T>G (p.Leu2340Arg)
c.284T>G (p.Leu95Arg)
n.540T>G
c.7199T>G (p.Leu2400Arg)
c.7133T>G (p.Leu2378Arg)
c.7196T>G (p.Leu2399Arg)
c.7193T>G (p.Leu2398Arg)
c.7139T>G (p.Leu2380Arg)
c.7109T>G (p.Leu2370Arg)
c.7064T>G (p.Leu2355Arg)
c.6659T>G (p.Leu2220Arg)
c.6017T>G (p.Leu2006Arg)
c.3527T>G (p.Leu1176Arg)
10g.71798529G>ACA470062111CDH23c.7005G>A (p.Leu2335=)
c.938G>A (n.938G>A)
c.602G>A (n.602G>A)
c.7020G>A (p.Leu2340=)
c.285G>A (p.Leu95=)
n.541G>A
c.7200G>A (p.Leu2400=)
c.7134G>A (p.Leu2378=)
c.7197G>A (p.Leu2399=)
c.7194G>A (p.Leu2398=)
c.7140G>A (p.Leu2380=)
c.7110G>A (p.Leu2370=)
c.7065G>A (p.Leu2355=)
c.6660G>A (p.Leu2220=)
c.6018G>A (p.Leu2006=)
c.3528G>A (p.Leu1176=)
 ClinVar dbSNP gnomAD v4
10g.71798529G>CCA470062112CDH23c.7005G>C (p.Leu2335=)
c.938G>C (n.938G>C)
c.602G>C (n.602G>C)
c.7020G>C (p.Leu2340=)
c.285G>C (p.Leu95=)
n.541G>C
c.7200G>C (p.Leu2400=)
c.7134G>C (p.Leu2378=)
c.7197G>C (p.Leu2399=)
c.7194G>C (p.Leu2398=)
c.7140G>C (p.Leu2380=)
c.7110G>C (p.Leu2370=)
c.7065G>C (p.Leu2355=)
c.6660G>C (p.Leu2220=)
c.6018G>C (p.Leu2006=)
c.3528G>C (p.Leu1176=)
 gnomAD v4
10g.71798529G>TCA470062113CDH23c.7005G>T (p.Leu2335=)
c.938G>T (n.938G>T)
c.602G>T (n.602G>T)
c.7020G>T (p.Leu2340=)
c.285G>T (p.Leu95=)
n.541G>T
c.7200G>T (p.Leu2400=)
c.7134G>T (p.Leu2378=)
c.7197G>T (p.Leu2399=)
c.7194G>T (p.Leu2398=)
c.7140G>T (p.Leu2380=)
c.7110G>T (p.Leu2370=)
c.7065G>T (p.Leu2355=)
c.6660G>T (p.Leu2220=)
c.6018G>T (p.Leu2006=)
c.3528G>T (p.Leu1176=)
10g.71798530C>ACA377158284CDH23c.7006C>A (p.Leu2336Met)
c.939C>A (n.939C>A)
c.603C>A (n.603C>A)
c.7021C>A (p.Leu2341Met)
c.286C>A (p.Leu96Met)
n.542C>A
c.7201C>A (p.Leu2401Met)
c.7135C>A (p.Leu2379Met)
c.7198C>A (p.Leu2400Met)
c.7195C>A (p.Leu2399Met)
c.7141C>A (p.Leu2381Met)
c.7111C>A (p.Leu2371Met)
c.7066C>A (p.Leu2356Met)
c.6661C>A (p.Leu2221Met)
c.6019C>A (p.Leu2007Met)
c.3529C>A (p.Leu1177Met)
 ClinVar dbSNP gnomAD v4
10g.71798530C=CA1918878489CDH23c.7006C= (p.Leu2336=)
c.939C= (n.939C=)
c.603C= (n.603C=)
c.7021C= (p.Leu2341=)
c.286C= (p.Leu96=)
n.542C=
c.7201C= (p.Leu2401=)
c.7135C= (p.Leu2379=)
c.7198C= (p.Leu2400=)
c.7195C= (p.Leu2399=)
c.7141C= (p.Leu2381=)
c.7111C= (p.Leu2371=)
c.7066C= (p.Leu2356=)
c.6661C= (p.Leu2221=)
c.6019C= (p.Leu2007=)
c.3529C= (p.Leu1177=)
10g.71798530C>GCA377158283CDH23c.7006C>G (p.Leu2336Val)
c.939C>G (n.939C>G)
c.603C>G (n.603C>G)
c.7021C>G (p.Leu2341Val)
c.286C>G (p.Leu96Val)
n.542C>G
c.7201C>G (p.Leu2401Val)
c.7135C>G (p.Leu2379Val)
c.7198C>G (p.Leu2400Val)
c.7195C>G (p.Leu2399Val)
c.7141C>G (p.Leu2381Val)
c.7111C>G (p.Leu2371Val)
c.7066C>G (p.Leu2356Val)
c.6661C>G (p.Leu2221Val)
c.6019C>G (p.Leu2007Val)
c.3529C>G (p.Leu1177Val)
 gnomAD v4
10g.71798530C>TCA470062114CDH23c.7006C>T (p.Leu2336=)
c.939C>T (n.939C>T)
c.603C>T (n.603C>T)
c.7021C>T (p.Leu2341=)
c.286C>T (p.Leu96=)
n.542C>T
c.7201C>T (p.Leu2401=)
c.7135C>T (p.Leu2379=)
c.7198C>T (p.Leu2400=)
c.7195C>T (p.Leu2399=)
c.7141C>T (p.Leu2381=)
c.7111C>T (p.Leu2371=)
c.7066C>T (p.Leu2356=)
c.6661C>T (p.Leu2221=)
c.6019C>T (p.Leu2007=)
c.3529C>T (p.Leu1177=)
 dbSNP
10g.71798531T>ACA377158294CDH23c.7007T>A (p.Leu2336Gln)
c.940T>A (n.940T>A)
c.604T>A (n.604T>A)
c.7022T>A (p.Leu2341Gln)
c.287T>A (p.Leu96Gln)
n.543T>A
c.7202T>A (p.Leu2401Gln)
c.7136T>A (p.Leu2379Gln)
c.7199T>A (p.Leu2400Gln)
c.7196T>A (p.Leu2399Gln)
c.7142T>A (p.Leu2381Gln)
c.7112T>A (p.Leu2371Gln)
c.7067T>A (p.Leu2356Gln)
c.6662T>A (p.Leu2221Gln)
c.6020T>A (p.Leu2007Gln)
c.3530T>A (p.Leu1177Gln)
10g.71798531T>CCA377158300CDH23c.7007T>C (p.Leu2336Pro)
c.940T>C (n.940T>C)
c.604T>C (n.604T>C)
c.7022T>C (p.Leu2341Pro)
c.287T>C (p.Leu96Pro)
n.543T>C
c.7202T>C (p.Leu2401Pro)
c.7136T>C (p.Leu2379Pro)
c.7199T>C (p.Leu2400Pro)
c.7196T>C (p.Leu2399Pro)
c.7142T>C (p.Leu2381Pro)
c.7112T>C (p.Leu2371Pro)
c.7067T>C (p.Leu2356Pro)
c.6662T>C (p.Leu2221Pro)
c.6020T>C (p.Leu2007Pro)
c.3530T>C (p.Leu1177Pro)
 dbSNP
10g.71798531T>GCA377158296CDH23c.7007T>G (p.Leu2336Arg)
c.940T>G (n.940T>G)
c.604T>G (n.604T>G)
c.7022T>G (p.Leu2341Arg)
c.287T>G (p.Leu96Arg)
n.543T>G
c.7202T>G (p.Leu2401Arg)
c.7136T>G (p.Leu2379Arg)
c.7199T>G (p.Leu2400Arg)
c.7196T>G (p.Leu2399Arg)
c.7142T>G (p.Leu2381Arg)
c.7112T>G (p.Leu2371Arg)
c.7067T>G (p.Leu2356Arg)
c.6662T>G (p.Leu2221Arg)
c.6020T>G (p.Leu2007Arg)
c.3530T>G (p.Leu1177Arg)
10g.71798531T=CA1918878490CDH23c.7007T= (p.Leu2336=)
c.940T= (n.940T=)
c.604T= (n.604T=)
c.7022T= (p.Leu2341=)
c.287T= (p.Leu96=)
n.543T=
c.7202T= (p.Leu2401=)
c.7136T= (p.Leu2379=)
c.7199T= (p.Leu2400=)
c.7196T= (p.Leu2399=)
c.7142T= (p.Leu2381=)
c.7112T= (p.Leu2371=)
c.7067T= (p.Leu2356=)
c.6662T= (p.Leu2221=)
c.6020T= (p.Leu2007=)
c.3530T= (p.Leu1177=)
10g.71798532G>ACA470062117CDH23c.7008G>A (p.Leu2336=)
c.941G>A (n.941G>A)
c.605G>A (n.605G>A)
c.7023G>A (p.Leu2341=)
c.288G>A (p.Leu96=)
n.544G>A
c.7203G>A (p.Leu2401=)
c.7137G>A (p.Leu2379=)
c.7200G>A (p.Leu2400=)
c.7197G>A (p.Leu2399=)
c.7143G>A (p.Leu2381=)
c.7113G>A (p.Leu2371=)
c.7068G>A (p.Leu2356=)
c.6663G>A (p.Leu2221=)
c.6021G>A (p.Leu2007=)
c.3531G>A (p.Leu1177=)
10g.71798532G>CCA470062119CDH23c.7008G>C (p.Leu2336=)
c.941G>C (n.941G>C)
c.605G>C (n.605G>C)
c.7023G>C (p.Leu2341=)
c.288G>C (p.Leu96=)
n.544G>C
c.7203G>C (p.Leu2401=)
c.7137G>C (p.Leu2379=)
c.7200G>C (p.Leu2400=)
c.7197G>C (p.Leu2399=)
c.7143G>C (p.Leu2381=)
c.7113G>C (p.Leu2371=)
c.7068G>C (p.Leu2356=)
c.6663G>C (p.Leu2221=)
c.6021G>C (p.Leu2007=)
c.3531G>C (p.Leu1177=)
 gnomAD v4
10g.71798532G>TCA470062118CDH23c.7008G>T (p.Leu2336=)
c.941G>T (n.941G>T)
c.605G>T (n.605G>T)
c.7023G>T (p.Leu2341=)
c.288G>T (p.Leu96=)
n.544G>T
c.7203G>T (p.Leu2401=)
c.7137G>T (p.Leu2379=)
c.7200G>T (p.Leu2400=)
c.7197G>T (p.Leu2399=)
c.7143G>T (p.Leu2381=)
c.7113G>T (p.Leu2371=)
c.7068G>T (p.Leu2356=)
c.6663G>T (p.Leu2221=)
c.6021G>T (p.Leu2007=)
c.3531G>T (p.Leu1177=)
 COSMIC
10g.71798533delCA2722286378CDH23c.7009del (p.Asp2337ThrfsTer?)
c.942del (n.942del)
c.606del (n.606del)
c.7024del (p.Asp2342ThrfsTer?)
c.289del (p.Asp97ThrfsTer?)
n.545del
c.7204del (p.Asp2402ThrfsTer?)
c.7138del (p.Asp2380ThrfsTer?)
c.7201del (p.Asp2401ThrfsTer?)
c.7198del (p.Asp2400ThrfsTer?)
c.7144del (p.Asp2382ThrfsTer?)
c.7114del (p.Asp2372ThrfsTer?)
c.7069del (p.Asp2357ThrfsTer?)
c.6664del (p.Asp2222ThrfsTer?)
c.6022del (p.Asp2008ThrfsTer?)
c.3532del (p.Asp1178ThrfsTer?)
 dbSNP
10g.71798533G>ACA377158303CDH23c.7009G>A (p.Asp2337Asn)
c.942G>A (n.942G>A)
c.606G>A (n.606G>A)
c.7024G>A (p.Asp2342Asn)
c.289G>A (p.Asp97Asn)
n.545G>A
c.7204G>A (p.Asp2402Asn)
c.7138G>A (p.Asp2380Asn)
c.7201G>A (p.Asp2401Asn)
c.7198G>A (p.Asp2400Asn)
c.7144G>A (p.Asp2382Asn)
c.7114G>A (p.Asp2372Asn)
c.7069G>A (p.Asp2357Asn)
c.6664G>A (p.Asp2222Asn)
c.6022G>A (p.Asp2008Asn)
c.3532G>A (p.Asp1178Asn)
10g.71798533G>CCA377158305CDH23c.7009G>C (p.Asp2337His)
c.942G>C (n.942G>C)
c.606G>C (n.606G>C)
c.7024G>C (p.Asp2342His)
c.289G>C (p.Asp97His)
n.545G>C
c.7204G>C (p.Asp2402His)
c.7138G>C (p.Asp2380His)
c.7201G>C (p.Asp2401His)
c.7198G>C (p.Asp2400His)
c.7144G>C (p.Asp2382His)
c.7114G>C (p.Asp2372His)
c.7069G>C (p.Asp2357His)
c.6664G>C (p.Asp2222His)
c.6022G>C (p.Asp2008His)
c.3532G>C (p.Asp1178His)
10g.71798533G=CA1918878491CDH23c.7009G= (p.Asp2337=)
c.942G= (n.942G=)
c.606G= (n.606G=)
c.7024G= (p.Asp2342=)
c.289G= (p.Asp97=)
n.545G=
c.7204G= (p.Asp2402=)
c.7138G= (p.Asp2380=)
c.7201G= (p.Asp2401=)
c.7198G= (p.Asp2400=)
c.7144G= (p.Asp2382=)
c.7114G= (p.Asp2372=)
c.7069G= (p.Asp2357=)
c.6664G= (p.Asp2222=)
c.6022G= (p.Asp2008=)
c.3532G= (p.Asp1178=)
10g.71798533G>TCA377158308CDH23c.7009G>T (p.Asp2337Tyr)
c.942G>T (n.942G>T)
c.606G>T (n.606G>T)
c.7024G>T (p.Asp2342Tyr)
c.289G>T (p.Asp97Tyr)
n.545G>T
c.7204G>T (p.Asp2402Tyr)
c.7138G>T (p.Asp2380Tyr)
c.7201G>T (p.Asp2401Tyr)
c.7198G>T (p.Asp2400Tyr)
c.7144G>T (p.Asp2382Tyr)
c.7114G>T (p.Asp2372Tyr)
c.7069G>T (p.Asp2357Tyr)
c.6664G>T (p.Asp2222Tyr)
c.6022G>T (p.Asp2008Tyr)
c.3532G>T (p.Asp1178Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.71798534A>CCA377158315CDH23c.7010A>C (p.Asp2337Ala)
c.943A>C (n.943A>C)
c.607A>C (n.607A>C)
c.7025A>C (p.Asp2342Ala)
c.290A>C (p.Asp97Ala)
n.546A>C
c.7205A>C (p.Asp2402Ala)
c.7139A>C (p.Asp2380Ala)
c.7202A>C (p.Asp2401Ala)
c.7199A>C (p.Asp2400Ala)
c.7145A>C (p.Asp2382Ala)
c.7115A>C (p.Asp2372Ala)
c.7070A>C (p.Asp2357Ala)
c.6665A>C (p.Asp2222Ala)
c.6023A>C (p.Asp2008Ala)
c.3533A>C (p.Asp1178Ala)
10g.71798534A>GCA377158316CDH23c.7010A>G (p.Asp2337Gly)
c.943A>G (n.943A>G)
c.607A>G (n.607A>G)
c.7025A>G (p.Asp2342Gly)
c.290A>G (p.Asp97Gly)
n.546A>G
c.7205A>G (p.Asp2402Gly)
c.7139A>G (p.Asp2380Gly)
c.7202A>G (p.Asp2401Gly)
c.7199A>G (p.Asp2400Gly)
c.7145A>G (p.Asp2382Gly)
c.7115A>G (p.Asp2372Gly)
c.7070A>G (p.Asp2357Gly)
c.6665A>G (p.Asp2222Gly)
c.6023A>G (p.Asp2008Gly)
c.3533A>G (p.Asp1178Gly)
10g.71798534A>TCA377158320CDH23c.7010A>T (p.Asp2337Val)
c.943A>T (n.943A>T)
c.607A>T (n.607A>T)
c.7025A>T (p.Asp2342Val)
c.290A>T (p.Asp97Val)
n.546A>T
c.7205A>T (p.Asp2402Val)
c.7139A>T (p.Asp2380Val)
c.7202A>T (p.Asp2401Val)
c.7199A>T (p.Asp2400Val)
c.7145A>T (p.Asp2382Val)
c.7115A>T (p.Asp2372Val)
c.7070A>T (p.Asp2357Val)
c.6665A>T (p.Asp2222Val)
c.6023A>T (p.Asp2008Val)
c.3533A>T (p.Asp1178Val)
10g.71798535C>ACA377158325CDH23c.7011C>A (p.Asp2337Glu)
c.944C>A (n.944C>A)
c.608C>A (n.608C>A)
c.7026C>A (p.Asp2342Glu)
c.291C>A (p.Asp97Glu)
n.547C>A
c.7206C>A (p.Asp2402Glu)
c.7140C>A (p.Asp2380Glu)
c.7203C>A (p.Asp2401Glu)
c.7200C>A (p.Asp2400Glu)
c.7146C>A (p.Asp2382Glu)
c.7116C>A (p.Asp2372Glu)
c.7071C>A (p.Asp2357Glu)
c.6666C>A (p.Asp2222Glu)
c.6024C>A (p.Asp2008Glu)
c.3534C>A (p.Asp1178Glu)
10g.71798535C=CA1918878492CDH23c.7011C= (p.Asp2337=)
c.944C= (n.944C=)
c.608C= (n.608C=)
c.7026C= (p.Asp2342=)
c.291C= (p.Asp97=)
n.547C=
c.7206C= (p.Asp2402=)
c.7140C= (p.Asp2380=)
c.7203C= (p.Asp2401=)
c.7200C= (p.Asp2400=)
c.7146C= (p.Asp2382=)
c.7116C= (p.Asp2372=)
c.7071C= (p.Asp2357=)
c.6666C= (p.Asp2222=)
c.6024C= (p.Asp2008=)
c.3534C= (p.Asp1178=)
10g.71798535C>GCA5546229CDH23c.7011C>G (p.Asp2337Glu)
c.944C>G (n.944C>G)
c.608C>G (n.608C>G)
c.7026C>G (p.Asp2342Glu)
c.291C>G (p.Asp97Glu)
n.547C>G
c.7206C>G (p.Asp2402Glu)
c.7140C>G (p.Asp2380Glu)
c.7203C>G (p.Asp2401Glu)
c.7200C>G (p.Asp2400Glu)
c.7146C>G (p.Asp2382Glu)
c.7116C>G (p.Asp2372Glu)
c.7071C>G (p.Asp2357Glu)
c.6666C>G (p.Asp2222Glu)
c.6024C>G (p.Asp2008Glu)
c.3534C>G (p.Asp1178Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798535C>TCA470062120CDH23c.7011C>T (p.Asp2337=)
c.944C>T (n.944C>T)
c.608C>T (n.608C>T)
c.7026C>T (p.Asp2342=)
c.291C>T (p.Asp97=)
n.547C>T
c.7206C>T (p.Asp2402=)
c.7140C>T (p.Asp2380=)
c.7203C>T (p.Asp2401=)
c.7200C>T (p.Asp2400=)
c.7146C>T (p.Asp2382=)
c.7116C>T (p.Asp2372=)
c.7071C>T (p.Asp2357=)
c.6666C>T (p.Asp2222=)
c.6024C>T (p.Asp2008=)
c.3534C>T (p.Asp1178=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798536C>ACA377158332CDH23c.7012C>A (p.Leu2338Met)
c.945C>A (n.945C>A)
c.609C>A (n.609C>A)
c.7027C>A (p.Leu2343Met)
c.292C>A (p.Leu98Met)
n.548C>A
c.7207C>A (p.Leu2403Met)
c.7141C>A (p.Leu2381Met)
c.7204C>A (p.Leu2402Met)
c.7201C>A (p.Leu2401Met)
c.7147C>A (p.Leu2383Met)
c.7117C>A (p.Leu2373Met)
c.7072C>A (p.Leu2358Met)
c.6667C>A (p.Leu2223Met)
c.6025C>A (p.Leu2009Met)
c.3535C>A (p.Leu1179Met)
10g.71798536C>GCA377158334CDH23c.7012C>G (p.Leu2338Val)
c.945C>G (n.945C>G)
c.609C>G (n.609C>G)
c.7027C>G (p.Leu2343Val)
c.292C>G (p.Leu98Val)
n.548C>G
c.7207C>G (p.Leu2403Val)
c.7141C>G (p.Leu2381Val)
c.7204C>G (p.Leu2402Val)
c.7201C>G (p.Leu2401Val)
c.7147C>G (p.Leu2383Val)
c.7117C>G (p.Leu2373Val)
c.7072C>G (p.Leu2358Val)
c.6667C>G (p.Leu2223Val)
c.6025C>G (p.Leu2009Val)
c.3535C>G (p.Leu1179Val)
10g.71798536C>TCA470062121CDH23c.7012C>T (p.Leu2338=)
c.945C>T (n.945C>T)
c.609C>T (n.609C>T)
c.7027C>T (p.Leu2343=)
c.292C>T (p.Leu98=)
n.548C>T
c.7207C>T (p.Leu2403=)
c.7141C>T (p.Leu2381=)
c.7204C>T (p.Leu2402=)
c.7201C>T (p.Leu2401=)
c.7147C>T (p.Leu2383=)
c.7117C>T (p.Leu2373=)
c.7072C>T (p.Leu2358=)
c.6667C>T (p.Leu2223=)
c.6025C>T (p.Leu2009=)
c.3535C>T (p.Leu1179=)
10g.71798537T>ACA377158336CDH23c.7013T>A (p.Leu2338Gln)
c.946T>A (n.946T>A)
c.610T>A (n.610T>A)
c.7028T>A (p.Leu2343Gln)
c.293T>A (p.Leu98Gln)
n.549T>A
c.7208T>A (p.Leu2403Gln)
c.7142T>A (p.Leu2381Gln)
c.7205T>A (p.Leu2402Gln)
c.7202T>A (p.Leu2401Gln)
c.7148T>A (p.Leu2383Gln)
c.7118T>A (p.Leu2373Gln)
c.7073T>A (p.Leu2358Gln)
c.6668T>A (p.Leu2223Gln)
c.6026T>A (p.Leu2009Gln)
c.3536T>A (p.Leu1179Gln)
10g.71798537T>CCA377158337CDH23c.7013T>C (p.Leu2338Pro)
c.946T>C (n.946T>C)
c.610T>C (n.610T>C)
c.7028T>C (p.Leu2343Pro)
c.293T>C (p.Leu98Pro)
n.549T>C
c.7208T>C (p.Leu2403Pro)
c.7142T>C (p.Leu2381Pro)
c.7205T>C (p.Leu2402Pro)
c.7202T>C (p.Leu2401Pro)
c.7148T>C (p.Leu2383Pro)
c.7118T>C (p.Leu2373Pro)
c.7073T>C (p.Leu2358Pro)
c.6668T>C (p.Leu2223Pro)
c.6026T>C (p.Leu2009Pro)
c.3536T>C (p.Leu1179Pro)
10g.71798537T>GCA377158339CDH23c.7013T>G (p.Leu2338Arg)
c.946T>G (n.946T>G)
c.610T>G (n.610T>G)
c.7028T>G (p.Leu2343Arg)
c.293T>G (p.Leu98Arg)
n.549T>G
c.7208T>G (p.Leu2403Arg)
c.7142T>G (p.Leu2381Arg)
c.7205T>G (p.Leu2402Arg)
c.7202T>G (p.Leu2401Arg)
c.7148T>G (p.Leu2383Arg)
c.7118T>G (p.Leu2373Arg)
c.7073T>G (p.Leu2358Arg)
c.6668T>G (p.Leu2223Arg)
c.6026T>G (p.Leu2009Arg)
c.3536T>G (p.Leu1179Arg)
10g.71798538G>ACA470062123CDH23c.7014G>A (p.Leu2338=)
c.947G>A (n.947G>A)
c.611G>A (n.611G>A)
c.7029G>A (p.Leu2343=)
c.294G>A (p.Leu98=)
n.550G>A
c.7209G>A (p.Leu2403=)
c.7143G>A (p.Leu2381=)
c.7206G>A (p.Leu2402=)
c.7203G>A (p.Leu2401=)
c.7149G>A (p.Leu2383=)
c.7119G>A (p.Leu2373=)
c.7074G>A (p.Leu2358=)
c.6669G>A (p.Leu2223=)
c.6027G>A (p.Leu2009=)
c.3537G>A (p.Leu1179=)
 ClinVar
10g.71798538G>CCA470062124CDH23c.7014G>C (p.Leu2338=)
c.947G>C (n.947G>C)
c.611G>C (n.611G>C)
c.7029G>C (p.Leu2343=)
c.294G>C (p.Leu98=)
n.550G>C
c.7209G>C (p.Leu2403=)
c.7143G>C (p.Leu2381=)
c.7206G>C (p.Leu2402=)
c.7203G>C (p.Leu2401=)
c.7149G>C (p.Leu2383=)
c.7119G>C (p.Leu2373=)
c.7074G>C (p.Leu2358=)
c.6669G>C (p.Leu2223=)
c.6027G>C (p.Leu2009=)
c.3537G>C (p.Leu1179=)
10g.71798538G>TCA470062125CDH23c.7014G>T (p.Leu2338=)
c.947G>T (n.947G>T)
c.611G>T (n.611G>T)
c.7029G>T (p.Leu2343=)
c.294G>T (p.Leu98=)
n.550G>T
c.7209G>T (p.Leu2403=)
c.7143G>T (p.Leu2381=)
c.7206G>T (p.Leu2402=)
c.7203G>T (p.Leu2401=)
c.7149G>T (p.Leu2383=)
c.7119G>T (p.Leu2373=)
c.7074G>T (p.Leu2358=)
c.6669G>T (p.Leu2223=)
c.6027G>T (p.Leu2009=)
c.3537G>T (p.Leu1179=)
 ClinVar dbSNP
10g.71798539G>ACA377158343CDH23c.7015G>A (p.Val2339Met)
c.948G>A (n.948G>A)
c.612G>A (n.612G>A)
c.7030G>A (p.Val2344Met)
c.295G>A (p.Val99Met)
n.551G>A
c.7210G>A (p.Val2404Met)
c.7144G>A (p.Val2382Met)
c.7207G>A (p.Val2403Met)
c.7204G>A (p.Val2402Met)
c.7150G>A (p.Val2384Met)
c.7120G>A (p.Val2374Met)
c.7075G>A (p.Val2359Met)
c.6670G>A (p.Val2224Met)
c.6028G>A (p.Val2010Met)
c.3538G>A (p.Val1180Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71798539G>CCA377158345CDH23c.7015G>C (p.Val2339Leu)
c.948G>C (n.948G>C)
c.612G>C (n.612G>C)
c.7030G>C (p.Val2344Leu)
c.295G>C (p.Val99Leu)
n.551G>C
c.7210G>C (p.Val2404Leu)
c.7144G>C (p.Val2382Leu)
c.7207G>C (p.Val2403Leu)
c.7204G>C (p.Val2402Leu)
c.7150G>C (p.Val2384Leu)
c.7120G>C (p.Val2374Leu)
c.7075G>C (p.Val2359Leu)
c.6670G>C (p.Val2224Leu)
c.6028G>C (p.Val2010Leu)
c.3538G>C (p.Val1180Leu)
10g.71798539G=CA1918878493CDH23c.7015G= (p.Val2339=)
c.948G= (n.948G=)
c.612G= (n.612G=)
c.7030G= (p.Val2344=)
c.295G= (p.Val99=)
n.551G=
c.7210G= (p.Val2404=)
c.7144G= (p.Val2382=)
c.7207G= (p.Val2403=)
c.7204G= (p.Val2402=)
c.7150G= (p.Val2384=)
c.7120G= (p.Val2374=)
c.7075G= (p.Val2359=)
c.6670G= (p.Val2224=)
c.6028G= (p.Val2010=)
c.3538G= (p.Val1180=)
10g.71798539G>TCA377158352CDH23c.7015G>T (p.Val2339Leu)
c.948G>T (n.948G>T)
c.612G>T (n.612G>T)
c.7030G>T (p.Val2344Leu)
c.295G>T (p.Val99Leu)
n.551G>T
c.7210G>T (p.Val2404Leu)
c.7144G>T (p.Val2382Leu)
c.7207G>T (p.Val2403Leu)
c.7204G>T (p.Val2402Leu)
c.7150G>T (p.Val2384Leu)
c.7120G>T (p.Val2374Leu)
c.7075G>T (p.Val2359Leu)
c.6670G>T (p.Val2224Leu)
c.6028G>T (p.Val2010Leu)
c.3538G>T (p.Val1180Leu)
10g.71798540T>ACA377158355CDH23c.7016T>A (p.Val2339Glu)
c.949T>A (n.949T>A)
c.613T>A (n.613T>A)
c.7031T>A (p.Val2344Glu)
c.296T>A (p.Val99Glu)
n.552T>A
c.7211T>A (p.Val2404Glu)
c.7145T>A (p.Val2382Glu)
c.7208T>A (p.Val2403Glu)
c.7205T>A (p.Val2402Glu)
c.7151T>A (p.Val2384Glu)
c.7121T>A (p.Val2374Glu)
c.7076T>A (p.Val2359Glu)
c.6671T>A (p.Val2224Glu)
c.6029T>A (p.Val2010Glu)
c.3539T>A (p.Val1180Glu)
10g.71798540T>CCA377158360CDH23c.7016T>C (p.Val2339Ala)
c.949T>C (n.949T>C)
c.613T>C (n.613T>C)
c.7031T>C (p.Val2344Ala)
c.296T>C (p.Val99Ala)
n.552T>C
c.7211T>C (p.Val2404Ala)
c.7145T>C (p.Val2382Ala)
c.7208T>C (p.Val2403Ala)
c.7205T>C (p.Val2402Ala)
c.7151T>C (p.Val2384Ala)
c.7121T>C (p.Val2374Ala)
c.7076T>C (p.Val2359Ala)
c.6671T>C (p.Val2224Ala)
c.6029T>C (p.Val2010Ala)
c.3539T>C (p.Val1180Ala)
 gnomAD v4
10g.71798540T>GCA377158357CDH23c.7016T>G (p.Val2339Gly)
c.949T>G (n.949T>G)
c.613T>G (n.613T>G)
c.7031T>G (p.Val2344Gly)
c.296T>G (p.Val99Gly)
n.552T>G
c.7211T>G (p.Val2404Gly)
c.7145T>G (p.Val2382Gly)
c.7208T>G (p.Val2403Gly)
c.7205T>G (p.Val2402Gly)
c.7151T>G (p.Val2384Gly)
c.7121T>G (p.Val2374Gly)
c.7076T>G (p.Val2359Gly)
c.6671T>G (p.Val2224Gly)
c.6029T>G (p.Val2010Gly)
c.3539T>G (p.Val1180Gly)
10g.71798541G>ACA470062128CDH23c.7017G>A (p.Val2339=)
c.950G>A (n.950G>A)
c.614G>A (n.614G>A)
c.7032G>A (p.Val2344=)
c.297G>A (p.Val99=)
n.553G>A
c.7212G>A (p.Val2404=)
c.7146G>A (p.Val2382=)
c.7209G>A (p.Val2403=)
c.7206G>A (p.Val2402=)
c.7152G>A (p.Val2384=)
c.7122G>A (p.Val2374=)
c.7077G>A (p.Val2359=)
c.6672G>A (p.Val2224=)
c.6030G>A (p.Val2010=)
c.3540G>A (p.Val1180=)
 ClinVar
10g.71798541G>CCA470062129CDH23c.7017G>C (p.Val2339=)
c.950G>C (n.950G>C)
c.614G>C (n.614G>C)
c.7032G>C (p.Val2344=)
c.297G>C (p.Val99=)
n.553G>C
c.7212G>C (p.Val2404=)
c.7146G>C (p.Val2382=)
c.7209G>C (p.Val2403=)
c.7206G>C (p.Val2402=)
c.7152G>C (p.Val2384=)
c.7122G>C (p.Val2374=)
c.7077G>C (p.Val2359=)
c.6672G>C (p.Val2224=)
c.6030G>C (p.Val2010=)
c.3540G>C (p.Val1180=)
10g.71798541G>TCA470062131CDH23c.7017G>T (p.Val2339=)
c.950G>T (n.950G>T)
c.614G>T (n.614G>T)
c.7032G>T (p.Val2344=)
c.297G>T (p.Val99=)
n.553G>T
c.7212G>T (p.Val2404=)
c.7146G>T (p.Val2382=)
c.7209G>T (p.Val2403=)
c.7206G>T (p.Val2402=)
c.7152G>T (p.Val2384=)
c.7122G>T (p.Val2374=)
c.7077G>T (p.Val2359=)
c.6672G>T (p.Val2224=)
c.6030G>T (p.Val2010=)
c.3540G>T (p.Val1180=)
10g.71798542C>ACA377158363CDH23c.7018C>A (p.Pro2340Thr)
c.951C>A (n.951C>A)
c.615C>A (n.615C>A)
c.7033C>A (p.Pro2345Thr)
c.298C>A (p.Pro100Thr)
n.554C>A
c.7213C>A (p.Pro2405Thr)
c.7147C>A (p.Pro2383Thr)
c.7210C>A (p.Pro2404Thr)
c.7207C>A (p.Pro2403Thr)
c.7153C>A (p.Pro2385Thr)
c.7123C>A (p.Pro2375Thr)
c.7078C>A (p.Pro2360Thr)
c.6673C>A (p.Pro2225Thr)
c.6031C>A (p.Pro2011Thr)
c.3541C>A (p.Pro1181Thr)
10g.71798542C=CA1918878494CDH23c.7018C= (p.Pro2340=)
c.951C= (n.951C=)
c.615C= (n.615C=)
c.7033C= (p.Pro2345=)
c.298C= (p.Pro100=)
n.554C=
c.7213C= (p.Pro2405=)
c.7147C= (p.Pro2383=)
c.7210C= (p.Pro2404=)
c.7207C= (p.Pro2403=)
c.7153C= (p.Pro2385=)
c.7123C= (p.Pro2375=)
c.7078C= (p.Pro2360=)
c.6673C= (p.Pro2225=)
c.6031C= (p.Pro2011=)
c.3541C= (p.Pro1181=)
10g.71798542C>GCA377158367CDH23c.7018C>G (p.Pro2340Ala)
c.951C>G (n.951C>G)
c.615C>G (n.615C>G)
c.7033C>G (p.Pro2345Ala)
c.298C>G (p.Pro100Ala)
n.554C>G
c.7213C>G (p.Pro2405Ala)
c.7147C>G (p.Pro2383Ala)
c.7210C>G (p.Pro2404Ala)
c.7207C>G (p.Pro2403Ala)
c.7153C>G (p.Pro2385Ala)
c.7123C>G (p.Pro2375Ala)
c.7078C>G (p.Pro2360Ala)
c.6673C>G (p.Pro2225Ala)
c.6031C>G (p.Pro2011Ala)
c.3541C>G (p.Pro1181Ala)
10g.71798542C>TCA377158371CDH23c.7018C>T (p.Pro2340Ser)
c.951C>T (n.951C>T)
c.615C>T (n.615C>T)
c.7033C>T (p.Pro2345Ser)
c.298C>T (p.Pro100Ser)
n.554C>T
c.7213C>T (p.Pro2405Ser)
c.7147C>T (p.Pro2383Ser)
c.7210C>T (p.Pro2404Ser)
c.7207C>T (p.Pro2403Ser)
c.7153C>T (p.Pro2385Ser)
c.7123C>T (p.Pro2375Ser)
c.7078C>T (p.Pro2360Ser)
c.6673C>T (p.Pro2225Ser)
c.6031C>T (p.Pro2011Ser)
c.3541C>T (p.Pro1181Ser)
 dbSNP
10g.71798546dupCA2580081853CDH23c.7022dup (p.Gly2342ArgfsTer?)
c.955dup (n.955dup)
c.619dup (n.619dup)
c.7037dup (p.Gly2347ArgfsTer?)
c.302dup (p.Gly102ArgfsTer?)
n.558dup
c.7217dup (p.Gly2407ArgfsTer?)
c.7151dup (p.Gly2385ArgfsTer?)
c.7214dup (p.Gly2406ArgfsTer?)
c.7211dup (p.Gly2405ArgfsTer?)
c.7157dup (p.Gly2387ArgfsTer?)
c.7127dup (p.Gly2377ArgfsTer?)
c.7082dup (p.Gly2362ArgfsTer?)
c.6677dup (p.Gly2227ArgfsTer?)
c.6035dup (p.Gly2013ArgfsTer?)
c.3545dup (p.Gly1183ArgfsTer?)
 ClinVar
10g.71798546delCA2574455542CDH23c.7022del (p.Pro2341GlnfsTer?)
c.955del (n.955del)
c.619del (n.619del)
c.7037del (p.Pro2346GlnfsTer?)
c.302del (p.Pro101GlnfsTer?)
n.558del
c.7217del (p.Pro2406GlnfsTer?)
c.7151del (p.Pro2384GlnfsTer?)
c.7214del (p.Pro2405GlnfsTer?)
c.7211del (p.Pro2404GlnfsTer?)
c.7157del (p.Pro2386GlnfsTer?)
c.7127del (p.Pro2376GlnfsTer?)
c.7082del (p.Pro2361GlnfsTer?)
c.6677del (p.Pro2226GlnfsTer?)
c.6035del (p.Pro2012GlnfsTer?)
c.3545del (p.Pro1182GlnfsTer?)
 ClinVar dbSNP
10g.71798543C>ACA377158374CDH23c.7019C>A (p.Pro2340His)
c.952C>A (n.952C>A)
c.616C>A (n.616C>A)
c.7034C>A (p.Pro2345His)
c.299C>A (p.Pro100His)
n.555C>A
c.7214C>A (p.Pro2405His)
c.7148C>A (p.Pro2383His)
c.7211C>A (p.Pro2404His)
c.7208C>A (p.Pro2403His)
c.7154C>A (p.Pro2385His)
c.7124C>A (p.Pro2375His)
c.7079C>A (p.Pro2360His)
c.6674C>A (p.Pro2225His)
c.6032C>A (p.Pro2011His)
c.3542C>A (p.Pro1181His)
10g.71798543C=CA1918878495CDH23c.7019C= (p.Pro2340=)
c.952C= (n.952C=)
c.616C= (n.616C=)
c.7034C= (p.Pro2345=)
c.299C= (p.Pro100=)
n.555C=
c.7214C= (p.Pro2405=)
c.7148C= (p.Pro2383=)
c.7211C= (p.Pro2404=)
c.7208C= (p.Pro2403=)
c.7154C= (p.Pro2385=)
c.7124C= (p.Pro2375=)
c.7079C= (p.Pro2360=)
c.6674C= (p.Pro2225=)
c.6032C= (p.Pro2011=)
c.3542C= (p.Pro1181=)
10g.71798543C>GCA377158383CDH23c.7019C>G (p.Pro2340Arg)
c.952C>G (n.952C>G)
c.616C>G (n.616C>G)
c.7034C>G (p.Pro2345Arg)
c.299C>G (p.Pro100Arg)
n.555C>G
c.7214C>G (p.Pro2405Arg)
c.7148C>G (p.Pro2383Arg)
c.7211C>G (p.Pro2404Arg)
c.7208C>G (p.Pro2403Arg)
c.7154C>G (p.Pro2385Arg)
c.7124C>G (p.Pro2375Arg)
c.7079C>G (p.Pro2360Arg)
c.6674C>G (p.Pro2225Arg)
c.6032C>G (p.Pro2011Arg)
c.3542C>G (p.Pro1181Arg)
10g.71798543C>TCA377158388CDH23c.7019C>T (p.Pro2340Leu)
c.952C>T (n.952C>T)
c.616C>T (n.616C>T)
c.7034C>T (p.Pro2345Leu)
c.299C>T (p.Pro100Leu)
n.555C>T
c.7214C>T (p.Pro2405Leu)
c.7148C>T (p.Pro2383Leu)
c.7211C>T (p.Pro2404Leu)
c.7208C>T (p.Pro2403Leu)
c.7154C>T (p.Pro2385Leu)
c.7124C>T (p.Pro2375Leu)
c.7079C>T (p.Pro2360Leu)
c.6674C>T (p.Pro2225Leu)
c.6032C>T (p.Pro2011Leu)
c.3542C>T (p.Pro1181Leu)
 dbSNP
10g.71798544C>ACA470062132CDH23c.7020C>A (p.Pro2340=)
c.953C>A (n.953C>A)
c.617C>A (n.617C>A)
c.7035C>A (p.Pro2345=)
c.300C>A (p.Pro100=)
n.556C>A
c.7215C>A (p.Pro2405=)
c.7149C>A (p.Pro2383=)
c.7212C>A (p.Pro2404=)
c.7209C>A (p.Pro2403=)
c.7155C>A (p.Pro2385=)
c.7125C>A (p.Pro2375=)
c.7080C>A (p.Pro2360=)
c.6675C>A (p.Pro2225=)
c.6033C>A (p.Pro2011=)
c.3543C>A (p.Pro1181=)
 gnomAD v4
10g.71798544C>GCA470062134CDH23c.7020C>G (p.Pro2340=)
c.953C>G (n.953C>G)
c.617C>G (n.617C>G)
c.7035C>G (p.Pro2345=)
c.300C>G (p.Pro100=)
n.556C>G
c.7215C>G (p.Pro2405=)
c.7149C>G (p.Pro2383=)
c.7212C>G (p.Pro2404=)
c.7209C>G (p.Pro2403=)
c.7155C>G (p.Pro2385=)
c.7125C>G (p.Pro2375=)
c.7080C>G (p.Pro2360=)
c.6675C>G (p.Pro2225=)
c.6033C>G (p.Pro2011=)
c.3543C>G (p.Pro1181=)
10g.71798544C>TCA470062133CDH23c.7020C>T (p.Pro2340=)
c.953C>T (n.953C>T)
c.617C>T (n.617C>T)
c.7035C>T (p.Pro2345=)
c.300C>T (p.Pro100=)
n.556C>T
c.7215C>T (p.Pro2405=)
c.7149C>T (p.Pro2383=)
c.7212C>T (p.Pro2404=)
c.7209C>T (p.Pro2403=)
c.7155C>T (p.Pro2385=)
c.7125C>T (p.Pro2375=)
c.7080C>T (p.Pro2360=)
c.6675C>T (p.Pro2225=)
c.6033C>T (p.Pro2011=)
c.3543C>T (p.Pro1181=)
 ClinVar
10g.71798545C>ACA377158390CDH23c.7021C>A (p.Pro2341Thr)
c.954C>A (n.954C>A)
c.618C>A (n.618C>A)
c.7036C>A (p.Pro2346Thr)
c.301C>A (p.Pro101Thr)
n.557C>A
c.7216C>A (p.Pro2406Thr)
c.7150C>A (p.Pro2384Thr)
c.7213C>A (p.Pro2405Thr)
c.7210C>A (p.Pro2404Thr)
c.7156C>A (p.Pro2386Thr)
c.7126C>A (p.Pro2376Thr)
c.7081C>A (p.Pro2361Thr)
c.6676C>A (p.Pro2226Thr)
c.6034C>A (p.Pro2012Thr)
c.3544C>A (p.Pro1182Thr)
10g.71798545C=CA1918878496CDH23c.7021C= (p.Pro2341=)
c.954C= (n.954C=)
c.618C= (n.618C=)
c.7036C= (p.Pro2346=)
c.301C= (p.Pro101=)
n.557C=
c.7216C= (p.Pro2406=)
c.7150C= (p.Pro2384=)
c.7213C= (p.Pro2405=)
c.7210C= (p.Pro2404=)
c.7156C= (p.Pro2386=)
c.7126C= (p.Pro2376=)
c.7081C= (p.Pro2361=)
c.6676C= (p.Pro2226=)
c.6034C= (p.Pro2012=)
c.3544C= (p.Pro1182=)
10g.71798545C>GCA377158393CDH23c.7021C>G (p.Pro2341Ala)
c.954C>G (n.954C>G)
c.618C>G (n.618C>G)
c.7036C>G (p.Pro2346Ala)
c.301C>G (p.Pro101Ala)
n.557C>G
c.7216C>G (p.Pro2406Ala)
c.7150C>G (p.Pro2384Ala)
c.7213C>G (p.Pro2405Ala)
c.7210C>G (p.Pro2404Ala)
c.7156C>G (p.Pro2386Ala)
c.7126C>G (p.Pro2376Ala)
c.7081C>G (p.Pro2361Ala)
c.6676C>G (p.Pro2226Ala)
c.6034C>G (p.Pro2012Ala)
c.3544C>G (p.Pro1182Ala)
 gnomAD v4
10g.71798545C>TCA377158396CDH23c.7021C>T (p.Pro2341Ser)
c.954C>T (n.954C>T)
c.618C>T (n.618C>T)
c.7036C>T (p.Pro2346Ser)
c.301C>T (p.Pro101Ser)
n.557C>T
c.7216C>T (p.Pro2406Ser)
c.7150C>T (p.Pro2384Ser)
c.7213C>T (p.Pro2405Ser)
c.7210C>T (p.Pro2404Ser)
c.7156C>T (p.Pro2386Ser)
c.7126C>T (p.Pro2376Ser)
c.7081C>T (p.Pro2361Ser)
c.6676C>T (p.Pro2226Ser)
c.6034C>T (p.Pro2012Ser)
c.3544C>T (p.Pro1182Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.71798546C>ACA377158408CDH23c.7022C>A (p.Pro2341Gln)
c.955C>A (n.955C>A)
c.619C>A (n.619C>A)
c.7037C>A (p.Pro2346Gln)
c.302C>A (p.Pro101Gln)
n.558C>A
c.7217C>A (p.Pro2406Gln)
c.7151C>A (p.Pro2384Gln)
c.7214C>A (p.Pro2405Gln)
c.7211C>A (p.Pro2404Gln)
c.7157C>A (p.Pro2386Gln)
c.7127C>A (p.Pro2376Gln)
c.7082C>A (p.Pro2361Gln)
c.6677C>A (p.Pro2226Gln)
c.6035C>A (p.Pro2012Gln)
c.3545C>A (p.Pro1182Gln)
10g.71798546C=CA1918878497CDH23c.7022C= (p.Pro2341=)
c.955C= (n.955C=)
c.619C= (n.619C=)
c.7037C= (p.Pro2346=)
c.302C= (p.Pro101=)
n.558C=
c.7217C= (p.Pro2406=)
c.7151C= (p.Pro2384=)
c.7214C= (p.Pro2405=)
c.7211C= (p.Pro2404=)
c.7157C= (p.Pro2386=)
c.7127C= (p.Pro2376=)
c.7082C= (p.Pro2361=)
c.6677C= (p.Pro2226=)
c.6035C= (p.Pro2012=)
c.3545C= (p.Pro1182=)
10g.71798546C>GCA377158411CDH23c.7022C>G (p.Pro2341Arg)
c.955C>G (n.955C>G)
c.619C>G (n.619C>G)
c.7037C>G (p.Pro2346Arg)
c.302C>G (p.Pro101Arg)
n.558C>G
c.7217C>G (p.Pro2406Arg)
c.7151C>G (p.Pro2384Arg)
c.7214C>G (p.Pro2405Arg)
c.7211C>G (p.Pro2404Arg)
c.7157C>G (p.Pro2386Arg)
c.7127C>G (p.Pro2376Arg)
c.7082C>G (p.Pro2361Arg)
c.6677C>G (p.Pro2226Arg)
c.6035C>G (p.Pro2012Arg)
c.3545C>G (p.Pro1182Arg)
 ClinVar dbSNP gnomAD v4
10g.71798546C>TCA377158414CDH23c.7022C>T (p.Pro2341Leu)
c.955C>T (n.955C>T)
c.619C>T (n.619C>T)
c.7037C>T (p.Pro2346Leu)
c.302C>T (p.Pro101Leu)
n.558C>T
c.7217C>T (p.Pro2406Leu)
c.7151C>T (p.Pro2384Leu)
c.7214C>T (p.Pro2405Leu)
c.7211C>T (p.Pro2404Leu)
c.7157C>T (p.Pro2386Leu)
c.7127C>T (p.Pro2376Leu)
c.7082C>T (p.Pro2361Leu)
c.6677C>T (p.Pro2226Leu)
c.6035C>T (p.Pro2012Leu)
c.3545C>T (p.Pro1182Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.71798547A>CCA470062137CDH23c.7023A>C (p.Pro2341=)
c.956A>C (n.956A>C)
c.620A>C (n.620A>C)
c.7038A>C (p.Pro2346=)
c.303A>C (p.Pro101=)
n.559A>C
c.7218A>C (p.Pro2406=)
c.7152A>C (p.Pro2384=)
c.7215A>C (p.Pro2405=)
c.7212A>C (p.Pro2404=)
c.7158A>C (p.Pro2386=)
c.7128A>C (p.Pro2376=)
c.7083A>C (p.Pro2361=)
c.6678A>C (p.Pro2226=)
c.6036A>C (p.Pro2012=)
c.3546A>C (p.Pro1182=)
10g.71798547A>GCA470062138CDH23c.7023A>G (p.Pro2341=)
c.956A>G (n.956A>G)
c.620A>G (n.620A>G)
c.7038A>G (p.Pro2346=)
c.303A>G (p.Pro101=)
n.559A>G
c.7218A>G (p.Pro2406=)
c.7152A>G (p.Pro2384=)
c.7215A>G (p.Pro2405=)
c.7212A>G (p.Pro2404=)
c.7158A>G (p.Pro2386=)
c.7128A>G (p.Pro2376=)
c.7083A>G (p.Pro2361=)
c.6678A>G (p.Pro2226=)
c.6036A>G (p.Pro2012=)
c.3546A>G (p.Pro1182=)
 ClinVar
10g.71798547A>TCA470062139CDH23c.7023A>T (p.Pro2341=)
c.956A>T (n.956A>T)
c.620A>T (n.620A>T)
c.7038A>T (p.Pro2346=)
c.303A>T (p.Pro101=)
n.559A>T
c.7218A>T (p.Pro2406=)
c.7152A>T (p.Pro2384=)
c.7215A>T (p.Pro2405=)
c.7212A>T (p.Pro2404=)
c.7158A>T (p.Pro2386=)
c.7128A>T (p.Pro2376=)
c.7083A>T (p.Pro2361=)
c.6678A>T (p.Pro2226=)
c.6036A>T (p.Pro2012=)
c.3546A>T (p.Pro1182=)
10g.71798548G>ACA377158417CDH23c.7024G>A (p.Gly2342Arg)
c.957G>A (n.957G>A)
c.621G>A (n.621G>A)
c.7039G>A (p.Gly2347Arg)
c.304G>A (p.Gly102Arg)
n.560G>A
c.7219G>A (p.Gly2407Arg)
c.7153G>A (p.Gly2385Arg)
c.7216G>A (p.Gly2406Arg)
c.7213G>A (p.Gly2405Arg)
c.7159G>A (p.Gly2387Arg)
c.7129G>A (p.Gly2377Arg)
c.7084G>A (p.Gly2362Arg)
c.6679G>A (p.Gly2227Arg)
c.6037G>A (p.Gly2013Arg)
c.3547G>A (p.Gly1183Arg)
 dbSNP
10g.71798548G>CCA5546230CDH23c.7024G>C (p.Gly2342Arg)
c.957G>C (n.957G>C)
c.621G>C (n.621G>C)
c.7039G>C (p.Gly2347Arg)
c.304G>C (p.Gly102Arg)
n.560G>C
c.7219G>C (p.Gly2407Arg)
c.7153G>C (p.Gly2385Arg)
c.7216G>C (p.Gly2406Arg)
c.7213G>C (p.Gly2405Arg)
c.7159G>C (p.Gly2387Arg)
c.7129G>C (p.Gly2377Arg)
c.7084G>C (p.Gly2362Arg)
c.6679G>C (p.Gly2227Arg)
c.6037G>C (p.Gly2013Arg)
c.3547G>C (p.Gly1183Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798548G=CA1918878498CDH23c.7024G= (p.Gly2342=)
c.957G= (n.957G=)
c.621G= (n.621G=)
c.7039G= (p.Gly2347=)
c.304G= (p.Gly102=)
n.560G=
c.7219G= (p.Gly2407=)
c.7153G= (p.Gly2385=)
c.7216G= (p.Gly2406=)
c.7213G= (p.Gly2405=)
c.7159G= (p.Gly2387=)
c.7129G= (p.Gly2377=)
c.7084G= (p.Gly2362=)
c.6679G= (p.Gly2227=)
c.6037G= (p.Gly2013=)
c.3547G= (p.Gly1183=)
10g.71798548G>TCA377158420CDH23c.7024G>T (p.Gly2342Trp)
c.957G>T (n.957G>T)
c.621G>T (n.621G>T)
c.7039G>T (p.Gly2347Trp)
c.304G>T (p.Gly102Trp)
n.560G>T
c.7219G>T (p.Gly2407Trp)
c.7153G>T (p.Gly2385Trp)
c.7216G>T (p.Gly2406Trp)
c.7213G>T (p.Gly2405Trp)
c.7159G>T (p.Gly2387Trp)
c.7129G>T (p.Gly2377Trp)
c.7084G>T (p.Gly2362Trp)
c.6679G>T (p.Gly2227Trp)
c.6037G>T (p.Gly2013Trp)
c.3547G>T (p.Gly1183Trp)
10g.71798550delCA2695212111CDH23c.7026del (p.Tyr2343MetfsTer?)
c.959del (n.959del)
c.623del (n.623del)
c.7041del (p.Tyr2348MetfsTer?)
c.306del (p.Tyr103MetfsTer?)
n.562del
c.7221del (p.Tyr2408MetfsTer?)
c.7155del (p.Tyr2386MetfsTer?)
c.7218del (p.Tyr2407MetfsTer?)
c.7215del (p.Tyr2406MetfsTer?)
c.7161del (p.Tyr2388MetfsTer?)
c.7131del (p.Tyr2378MetfsTer?)
c.7086del (p.Tyr2363MetfsTer?)
c.6681del (p.Tyr2228MetfsTer?)
c.6039del (p.Tyr2014MetfsTer?)
c.3549del (p.Tyr1184MetfsTer?)
10g.71798549G>ACA377158426CDH23c.7025G>A (p.Gly2342Glu)
c.958G>A (n.958G>A)
c.622G>A (n.622G>A)
c.7040G>A (p.Gly2347Glu)
c.305G>A (p.Gly102Glu)
n.561G>A
c.7220G>A (p.Gly2407Glu)
c.7154G>A (p.Gly2385Glu)
c.7217G>A (p.Gly2406Glu)
c.7214G>A (p.Gly2405Glu)
c.7160G>A (p.Gly2387Glu)
c.7130G>A (p.Gly2377Glu)
c.7085G>A (p.Gly2362Glu)
c.6680G>A (p.Gly2227Glu)
c.6038G>A (p.Gly2013Glu)
c.3548G>A (p.Gly1183Glu)
 gnomAD v4
10g.71798549G>CCA5546231CDH23c.7025G>C (p.Gly2342Ala)
c.958G>C (n.958G>C)
c.622G>C (n.622G>C)
c.7040G>C (p.Gly2347Ala)
c.305G>C (p.Gly102Ala)
n.561G>C
c.7220G>C (p.Gly2407Ala)
c.7154G>C (p.Gly2385Ala)
c.7217G>C (p.Gly2406Ala)
c.7214G>C (p.Gly2405Ala)
c.7160G>C (p.Gly2387Ala)
c.7130G>C (p.Gly2377Ala)
c.7085G>C (p.Gly2362Ala)
c.6680G>C (p.Gly2227Ala)
c.6038G>C (p.Gly2013Ala)
c.3548G>C (p.Gly1183Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798549G=CA1918878499CDH23c.7025G= (p.Gly2342=)
c.958G= (n.958G=)
c.622G= (n.622G=)
c.7040G= (p.Gly2347=)
c.305G= (p.Gly102=)
n.561G=
c.7220G= (p.Gly2407=)
c.7154G= (p.Gly2385=)
c.7217G= (p.Gly2406=)
c.7214G= (p.Gly2405=)
c.7160G= (p.Gly2387=)
c.7130G= (p.Gly2377=)
c.7085G= (p.Gly2362=)
c.6680G= (p.Gly2227=)
c.6038G= (p.Gly2013=)
c.3548G= (p.Gly1183=)
10g.71798549G>TCA377158432CDH23c.7025G>T (p.Gly2342Val)
c.958G>T (n.958G>T)
c.622G>T (n.622G>T)
c.7040G>T (p.Gly2347Val)
c.305G>T (p.Gly102Val)
n.561G>T
c.7220G>T (p.Gly2407Val)
c.7154G>T (p.Gly2385Val)
c.7217G>T (p.Gly2406Val)
c.7214G>T (p.Gly2405Val)
c.7160G>T (p.Gly2387Val)
c.7130G>T (p.Gly2377Val)
c.7085G>T (p.Gly2362Val)
c.6680G>T (p.Gly2227Val)
c.6038G>T (p.Gly2013Val)
c.3548G>T (p.Gly1183Val)
10g.71798550G>ACA5546233CDH23c.7026G>A (p.Gly2342=)
c.959G>A (n.959G>A)
c.623G>A (n.623G>A)
c.7041G>A (p.Gly2347=)
c.306G>A (p.Gly102=)
n.562G>A
c.7221G>A (p.Gly2407=)
c.7155G>A (p.Gly2385=)
c.7218G>A (p.Gly2406=)
c.7215G>A (p.Gly2405=)
c.7161G>A (p.Gly2387=)
c.7131G>A (p.Gly2377=)
c.7086G>A (p.Gly2362=)
c.6681G>A (p.Gly2227=)
c.6039G>A (p.Gly2013=)
c.3549G>A (p.Gly1183=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798550G>CCA5546232CDH23c.7026G>C (p.Gly2342=)
c.959G>C (n.959G>C)
c.623G>C (n.623G>C)
c.7041G>C (p.Gly2347=)
c.306G>C (p.Gly102=)
n.562G>C
c.7221G>C (p.Gly2407=)
c.7155G>C (p.Gly2385=)
c.7218G>C (p.Gly2406=)
c.7215G>C (p.Gly2405=)
c.7161G>C (p.Gly2387=)
c.7131G>C (p.Gly2377=)
c.7086G>C (p.Gly2362=)
c.6681G>C (p.Gly2227=)
c.6039G>C (p.Gly2013=)
c.3549G>C (p.Gly1183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798550G=CA1918878500CDH23c.7026G= (p.Gly2342=)
c.959G= (n.959G=)
c.623G= (n.623G=)
c.7041G= (p.Gly2347=)
c.306G= (p.Gly102=)
n.562G=
c.7221G= (p.Gly2407=)
c.7155G= (p.Gly2385=)
c.7218G= (p.Gly2406=)
c.7215G= (p.Gly2405=)
c.7161G= (p.Gly2387=)
c.7131G= (p.Gly2377=)
c.7086G= (p.Gly2362=)
c.6681G= (p.Gly2227=)
c.6039G= (p.Gly2013=)
c.3549G= (p.Gly1183=)
10g.71798550G>TCA470062141CDH23c.7026G>T (p.Gly2342=)
c.959G>T (n.959G>T)
c.623G>T (n.623G>T)
c.7041G>T (p.Gly2347=)
c.306G>T (p.Gly102=)
n.562G>T
c.7221G>T (p.Gly2407=)
c.7155G>T (p.Gly2385=)
c.7218G>T (p.Gly2406=)
c.7215G>T (p.Gly2405=)
c.7161G>T (p.Gly2387=)
c.7131G>T (p.Gly2377=)
c.7086G>T (p.Gly2362=)
c.6681G>T (p.Gly2227=)
c.6039G>T (p.Gly2013=)
c.3549G>T (p.Gly1183=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798551T>ACA377158436CDH23c.7027T>A (p.Tyr2343Asn)
c.960T>A (n.960T>A)
c.624T>A (n.624T>A)
c.7042T>A (p.Tyr2348Asn)
c.307T>A (p.Tyr103Asn)
n.563T>A
c.7222T>A (p.Tyr2408Asn)
c.7156T>A (p.Tyr2386Asn)
c.7219T>A (p.Tyr2407Asn)
c.7216T>A (p.Tyr2406Asn)
c.7162T>A (p.Tyr2388Asn)
c.7132T>A (p.Tyr2378Asn)
c.7087T>A (p.Tyr2363Asn)
c.6682T>A (p.Tyr2228Asn)
c.6040T>A (p.Tyr2014Asn)
c.3550T>A (p.Tyr1184Asn)
10g.71798551T>CCA377158440CDH23c.7027T>C (p.Tyr2343His)
c.960T>C (n.960T>C)
c.624T>C (n.624T>C)
c.7042T>C (p.Tyr2348His)
c.307T>C (p.Tyr103His)
n.563T>C
c.7222T>C (p.Tyr2408His)
c.7156T>C (p.Tyr2386His)
c.7219T>C (p.Tyr2407His)
c.7216T>C (p.Tyr2406His)
c.7162T>C (p.Tyr2388His)
c.7132T>C (p.Tyr2378His)
c.7087T>C (p.Tyr2363His)
c.6682T>C (p.Tyr2228His)
c.6040T>C (p.Tyr2014His)
c.3550T>C (p.Tyr1184His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798551T>GCA377158441CDH23c.7027T>G (p.Tyr2343Asp)
c.960T>G (n.960T>G)
c.624T>G (n.624T>G)
c.7042T>G (p.Tyr2348Asp)
c.307T>G (p.Tyr103Asp)
n.563T>G
c.7222T>G (p.Tyr2408Asp)
c.7156T>G (p.Tyr2386Asp)
c.7219T>G (p.Tyr2407Asp)
c.7216T>G (p.Tyr2406Asp)
c.7162T>G (p.Tyr2388Asp)
c.7132T>G (p.Tyr2378Asp)
c.7087T>G (p.Tyr2363Asp)
c.6682T>G (p.Tyr2228Asp)
c.6040T>G (p.Tyr2014Asp)
c.3550T>G (p.Tyr1184Asp)
10g.71798551T=CA1918878501CDH23c.7027T= (p.Tyr2343=)
c.960T= (n.960T=)
c.624T= (n.624T=)
c.7042T= (p.Tyr2348=)
c.307T= (p.Tyr103=)
n.563T=
c.7222T= (p.Tyr2408=)
c.7156T= (p.Tyr2386=)
c.7219T= (p.Tyr2407=)
c.7216T= (p.Tyr2406=)
c.7162T= (p.Tyr2388=)
c.7132T= (p.Tyr2378=)
c.7087T= (p.Tyr2363=)
c.6682T= (p.Tyr2228=)
c.6040T= (p.Tyr2014=)
c.3550T= (p.Tyr1184=)
10g.71798552A>CCA377158442CDH23c.7028A>C (p.Tyr2343Ser)
c.961A>C (n.961A>C)
c.625A>C (n.625A>C)
c.7043A>C (p.Tyr2348Ser)
c.308A>C (p.Tyr103Ser)
n.564A>C
c.7223A>C (p.Tyr2408Ser)
c.7157A>C (p.Tyr2386Ser)
c.7220A>C (p.Tyr2407Ser)
c.7217A>C (p.Tyr2406Ser)
c.7163A>C (p.Tyr2388Ser)
c.7133A>C (p.Tyr2378Ser)
c.7088A>C (p.Tyr2363Ser)
c.6683A>C (p.Tyr2228Ser)
c.6041A>C (p.Tyr2014Ser)
c.3551A>C (p.Tyr1184Ser)
10g.71798552A>GCA377158443CDH23c.7028A>G (p.Tyr2343Cys)
c.961A>G (n.961A>G)
c.625A>G (n.625A>G)
c.7043A>G (p.Tyr2348Cys)
c.308A>G (p.Tyr103Cys)
n.564A>G
c.7223A>G (p.Tyr2408Cys)
c.7157A>G (p.Tyr2386Cys)
c.7220A>G (p.Tyr2407Cys)
c.7217A>G (p.Tyr2406Cys)
c.7163A>G (p.Tyr2388Cys)
c.7133A>G (p.Tyr2378Cys)
c.7088A>G (p.Tyr2363Cys)
c.6683A>G (p.Tyr2228Cys)
c.6041A>G (p.Tyr2014Cys)
c.3551A>G (p.Tyr1184Cys)
10g.71798552A>TCA377158444CDH23c.7028A>T (p.Tyr2343Phe)
c.961A>T (n.961A>T)
c.625A>T (n.625A>T)
c.7043A>T (p.Tyr2348Phe)
c.308A>T (p.Tyr103Phe)
n.564A>T
c.7223A>T (p.Tyr2408Phe)
c.7157A>T (p.Tyr2386Phe)
c.7220A>T (p.Tyr2407Phe)
c.7217A>T (p.Tyr2406Phe)
c.7163A>T (p.Tyr2388Phe)
c.7133A>T (p.Tyr2378Phe)
c.7088A>T (p.Tyr2363Phe)
c.6683A>T (p.Tyr2228Phe)
c.6041A>T (p.Tyr2014Phe)
c.3551A>T (p.Tyr1184Phe)
10g.71798553T>ACA377158445CDH23c.7029T>A (p.Tyr2343Ter)
c.962T>A (n.962T>A)
c.626T>A (n.626T>A)
c.7044T>A (p.Tyr2348Ter)
c.309T>A (p.Tyr103Ter)
n.565T>A
c.7224T>A (p.Tyr2408Ter)
c.7158T>A (p.Tyr2386Ter)
c.7221T>A (p.Tyr2407Ter)
c.7218T>A (p.Tyr2406Ter)
c.7164T>A (p.Tyr2388Ter)
c.7134T>A (p.Tyr2378Ter)
c.7089T>A (p.Tyr2363Ter)
c.6684T>A (p.Tyr2228Ter)
c.6042T>A (p.Tyr2014Ter)
c.3552T>A (p.Tyr1184Ter)
10g.71798553T>CCA470062178CDH23c.7029T>C (p.Tyr2343=)
c.962T>C (n.962T>C)
c.626T>C (n.626T>C)
c.7044T>C (p.Tyr2348=)
c.309T>C (p.Tyr103=)
n.565T>C
c.7224T>C (p.Tyr2408=)
c.7158T>C (p.Tyr2386=)
c.7221T>C (p.Tyr2407=)
c.7218T>C (p.Tyr2406=)
c.7164T>C (p.Tyr2388=)
c.7134T>C (p.Tyr2378=)
c.7089T>C (p.Tyr2363=)
c.6684T>C (p.Tyr2228=)
c.6042T>C (p.Tyr2014=)
c.3552T>C (p.Tyr1184=)
 ClinVar dbSNP
10g.71798553T>GCA377158446CDH23c.7029T>G (p.Tyr2343Ter)
c.962T>G (n.962T>G)
c.626T>G (n.626T>G)
c.7044T>G (p.Tyr2348Ter)
c.309T>G (p.Tyr103Ter)
n.565T>G
c.7224T>G (p.Tyr2408Ter)
c.7158T>G (p.Tyr2386Ter)
c.7221T>G (p.Tyr2407Ter)
c.7218T>G (p.Tyr2406Ter)
c.7164T>G (p.Tyr2388Ter)
c.7134T>G (p.Tyr2378Ter)
c.7089T>G (p.Tyr2363Ter)
c.6684T>G (p.Tyr2228Ter)
c.6042T>G (p.Tyr2014Ter)
c.3552T>G (p.Tyr1184Ter)
 dbSNP gnomAD v3 gnomAD v4
10g.71798553T=CA1918878502CDH23c.7029T= (p.Tyr2343=)
c.962T= (n.962T=)
c.626T= (n.626T=)
c.7044T= (p.Tyr2348=)
c.309T= (p.Tyr103=)
n.565T=
c.7224T= (p.Tyr2408=)
c.7158T= (p.Tyr2386=)
c.7221T= (p.Tyr2407=)
c.7218T= (p.Tyr2406=)
c.7164T= (p.Tyr2388=)
c.7134T= (p.Tyr2378=)
c.7089T= (p.Tyr2363=)
c.6684T= (p.Tyr2228=)
c.6042T= (p.Tyr2014=)
c.3552T= (p.Tyr1184=)
10g.71798554G>ACA377158450CDH23c.7030G>A (p.Val2344Ile)
c.963G>A (n.963G>A)
c.627G>A (n.627G>A)
c.7045G>A (p.Val2349Ile)
c.310G>A (p.Val104Ile)
n.566G>A
c.7225G>A (p.Val2409Ile)
c.7159G>A (p.Val2387Ile)
c.7222G>A (p.Val2408Ile)
c.7219G>A (p.Val2407Ile)
c.7165G>A (p.Val2389Ile)
c.7135G>A (p.Val2379Ile)
c.7090G>A (p.Val2364Ile)
c.6685G>A (p.Val2229Ile)
c.6043G>A (p.Val2015Ile)
c.3553G>A (p.Val1185Ile)
10g.71798554G>CCA377158448CDH23c.7030G>C (p.Val2344Leu)
c.963G>C (n.963G>C)
c.627G>C (n.627G>C)
c.7045G>C (p.Val2349Leu)
c.310G>C (p.Val104Leu)
n.566G>C
c.7225G>C (p.Val2409Leu)
c.7159G>C (p.Val2387Leu)
c.7222G>C (p.Val2408Leu)
c.7219G>C (p.Val2407Leu)
c.7165G>C (p.Val2389Leu)
c.7135G>C (p.Val2379Leu)
c.7090G>C (p.Val2364Leu)
c.6685G>C (p.Val2229Leu)
c.6043G>C (p.Val2015Leu)
c.3553G>C (p.Val1185Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.71798554G=CA1918878503CDH23c.7030G= (p.Val2344=)
c.963G= (n.963G=)
c.627G= (n.627G=)
c.7045G= (p.Val2349=)
c.310G= (p.Val104=)
n.566G=
c.7225G= (p.Val2409=)
c.7159G= (p.Val2387=)
c.7222G= (p.Val2408=)
c.7219G= (p.Val2407=)
c.7165G= (p.Val2389=)
c.7135G= (p.Val2379=)
c.7090G= (p.Val2364=)
c.6685G= (p.Val2229=)
c.6043G= (p.Val2015=)
c.3553G= (p.Val1185=)
10g.71798554G>TCA377158449CDH23c.7030G>T (p.Val2344Phe)
c.963G>T (n.963G>T)
c.627G>T (n.627G>T)
c.7045G>T (p.Val2349Phe)
c.310G>T (p.Val104Phe)
n.566G>T
c.7225G>T (p.Val2409Phe)
c.7159G>T (p.Val2387Phe)
c.7222G>T (p.Val2408Phe)
c.7219G>T (p.Val2407Phe)
c.7165G>T (p.Val2389Phe)
c.7135G>T (p.Val2379Phe)
c.7090G>T (p.Val2364Phe)
c.6685G>T (p.Val2229Phe)
c.6043G>T (p.Val2015Phe)
c.3553G>T (p.Val1185Phe)
10g.71798555T>ACA377158457CDH23c.7031T>A (p.Val2344Asp)
c.964T>A (n.964T>A)
c.628T>A (n.628T>A)
c.7046T>A (p.Val2349Asp)
c.311T>A (p.Val104Asp)
n.567T>A
c.7226T>A (p.Val2409Asp)
c.7160T>A (p.Val2387Asp)
c.7223T>A (p.Val2408Asp)
c.7220T>A (p.Val2407Asp)
c.7166T>A (p.Val2389Asp)
c.7136T>A (p.Val2379Asp)
c.7091T>A (p.Val2364Asp)
c.6686T>A (p.Val2229Asp)
c.6044T>A (p.Val2015Asp)
c.3554T>A (p.Val1185Asp)
10g.71798555T>CCA377158458CDH23c.7031T>C (p.Val2344Ala)
c.964T>C (n.964T>C)
c.628T>C (n.628T>C)
c.7046T>C (p.Val2349Ala)
c.311T>C (p.Val104Ala)
n.567T>C
c.7226T>C (p.Val2409Ala)
c.7160T>C (p.Val2387Ala)
c.7223T>C (p.Val2408Ala)
c.7220T>C (p.Val2407Ala)
c.7166T>C (p.Val2389Ala)
c.7136T>C (p.Val2379Ala)
c.7091T>C (p.Val2364Ala)
c.6686T>C (p.Val2229Ala)
c.6044T>C (p.Val2015Ala)
c.3554T>C (p.Val1185Ala)
10g.71798555T>GCA377158459CDH23c.7031T>G (p.Val2344Gly)
c.964T>G (n.964T>G)
c.628T>G (n.628T>G)
c.7046T>G (p.Val2349Gly)
c.311T>G (p.Val104Gly)
n.567T>G
c.7226T>G (p.Val2409Gly)
c.7160T>G (p.Val2387Gly)
c.7223T>G (p.Val2408Gly)
c.7220T>G (p.Val2407Gly)
c.7166T>G (p.Val2389Gly)
c.7136T>G (p.Val2379Gly)
c.7091T>G (p.Val2364Gly)
c.6686T>G (p.Val2229Gly)
c.6044T>G (p.Val2015Gly)
c.3554T>G (p.Val1185Gly)
10g.71798556C>ACA470062180CDH23c.7032C>A (p.Val2344=)
c.965C>A (n.965C>A)
c.629C>A (n.629C>A)
c.7047C>A (p.Val2349=)
c.312C>A (p.Val104=)
n.568C>A
c.7227C>A (p.Val2409=)
c.7161C>A (p.Val2387=)
c.7224C>A (p.Val2408=)
c.7221C>A (p.Val2407=)
c.7167C>A (p.Val2389=)
c.7137C>A (p.Val2379=)
c.7092C>A (p.Val2364=)
c.6687C>A (p.Val2229=)
c.6045C>A (p.Val2015=)
c.3555C>A (p.Val1185=)
10g.71798556C>GCA470062181CDH23c.7032C>G (p.Val2344=)
c.965C>G (n.965C>G)
c.629C>G (n.629C>G)
c.7047C>G (p.Val2349=)
c.312C>G (p.Val104=)
n.568C>G
c.7227C>G (p.Val2409=)
c.7161C>G (p.Val2387=)
c.7224C>G (p.Val2408=)
c.7221C>G (p.Val2407=)
c.7167C>G (p.Val2389=)
c.7137C>G (p.Val2379=)
c.7092C>G (p.Val2364=)
c.6687C>G (p.Val2229=)
c.6045C>G (p.Val2015=)
c.3555C>G (p.Val1185=)
 COSMIC
10g.71798556C>TCA470062182CDH23c.7032C>T (p.Val2344=)
c.965C>T (n.965C>T)
c.629C>T (n.629C>T)
c.7047C>T (p.Val2349=)
c.312C>T (p.Val104=)
n.568C>T
c.7227C>T (p.Val2409=)
c.7161C>T (p.Val2387=)
c.7224C>T (p.Val2408=)
c.7221C>T (p.Val2407=)
c.7167C>T (p.Val2389=)
c.7137C>T (p.Val2379=)
c.7092C>T (p.Val2364=)
c.6687C>T (p.Val2229=)
c.6045C>T (p.Val2015=)
c.3555C>T (p.Val1185=)
10g.71798557C>ACA377158460CDH23c.7033C>A (p.Gln2345Lys)
c.966C>A (n.966C>A)
c.630C>A (n.630C>A)
c.7048C>A (p.Gln2350Lys)
c.313C>A (p.Gln105Lys)
n.569C>A
c.7228C>A (p.Gln2410Lys)
c.7162C>A (p.Gln2388Lys)
c.7225C>A (p.Gln2409Lys)
c.7222C>A (p.Gln2408Lys)
c.7168C>A (p.Gln2390Lys)
c.7138C>A (p.Gln2380Lys)
c.7093C>A (p.Gln2365Lys)
c.6688C>A (p.Gln2230Lys)
c.6046C>A (p.Gln2016Lys)
c.3556C>A (p.Gln1186Lys)
10g.71798557C>GCA377158461CDH23c.7033C>G (p.Gln2345Glu)
c.966C>G (n.966C>G)
c.630C>G (n.630C>G)
c.7048C>G (p.Gln2350Glu)
c.313C>G (p.Gln105Glu)
n.569C>G
c.7228C>G (p.Gln2410Glu)
c.7162C>G (p.Gln2388Glu)
c.7225C>G (p.Gln2409Glu)
c.7222C>G (p.Gln2408Glu)
c.7168C>G (p.Gln2390Glu)
c.7138C>G (p.Gln2380Glu)
c.7093C>G (p.Gln2365Glu)
c.6688C>G (p.Gln2230Glu)
c.6046C>G (p.Gln2016Glu)
c.3556C>G (p.Gln1186Glu)
10g.71798557C>TCA377158462CDH23c.7033C>T (p.Gln2345Ter)
c.966C>T (n.966C>T)
c.630C>T (n.630C>T)
c.7048C>T (p.Gln2350Ter)
c.313C>T (p.Gln105Ter)
n.569C>T
c.7228C>T (p.Gln2410Ter)
c.7162C>T (p.Gln2388Ter)
c.7225C>T (p.Gln2409Ter)
c.7222C>T (p.Gln2408Ter)
c.7168C>T (p.Gln2390Ter)
c.7138C>T (p.Gln2380Ter)
c.7093C>T (p.Gln2365Ter)
c.6688C>T (p.Gln2230Ter)
c.6046C>T (p.Gln2016Ter)
c.3556C>T (p.Gln1186Ter)
10g.71798558A>CCA377158463CDH23c.7034A>C (p.Gln2345Pro)
c.967A>C (n.967A>C)
c.631A>C (n.631A>C)
c.7049A>C (p.Gln2350Pro)
c.314A>C (p.Gln105Pro)
n.570A>C
c.7229A>C (p.Gln2410Pro)
c.7163A>C (p.Gln2388Pro)
c.7226A>C (p.Gln2409Pro)
c.7223A>C (p.Gln2408Pro)
c.7169A>C (p.Gln2390Pro)
c.7139A>C (p.Gln2380Pro)
c.7094A>C (p.Gln2365Pro)
c.6689A>C (p.Gln2230Pro)
c.6047A>C (p.Gln2016Pro)
c.3557A>C (p.Gln1186Pro)
10g.71798558A>GCA377158464CDH23c.7034A>G (p.Gln2345Arg)
c.967A>G (n.967A>G)
c.631A>G (n.631A>G)
c.7049A>G (p.Gln2350Arg)
c.314A>G (p.Gln105Arg)
n.570A>G
c.7229A>G (p.Gln2410Arg)
c.7163A>G (p.Gln2388Arg)
c.7226A>G (p.Gln2409Arg)
c.7223A>G (p.Gln2408Arg)
c.7169A>G (p.Gln2390Arg)
c.7139A>G (p.Gln2380Arg)
c.7094A>G (p.Gln2365Arg)
c.6689A>G (p.Gln2230Arg)
c.6047A>G (p.Gln2016Arg)
c.3557A>G (p.Gln1186Arg)
10g.71798558A>TCA377158465CDH23c.7034A>T (p.Gln2345Leu)
c.967A>T (n.967A>T)
c.631A>T (n.631A>T)
c.7049A>T (p.Gln2350Leu)
c.314A>T (p.Gln105Leu)
n.570A>T
c.7229A>T (p.Gln2410Leu)
c.7163A>T (p.Gln2388Leu)
c.7226A>T (p.Gln2409Leu)
c.7223A>T (p.Gln2408Leu)
c.7169A>T (p.Gln2390Leu)
c.7139A>T (p.Gln2380Leu)
c.7094A>T (p.Gln2365Leu)
c.6689A>T (p.Gln2230Leu)
c.6047A>T (p.Gln2016Leu)
c.3557A>T (p.Gln1186Leu)
10g.71798559G>ACA470062183CDH23c.7035G>A (p.Gln2345=)
c.968G>A (n.968G>A)
c.632G>A (n.632G>A)
c.7050G>A (p.Gln2350=)
c.315G>A (p.Gln105=)
n.571G>A
c.7230G>A (p.Gln2410=)
c.7164G>A (p.Gln2388=)
c.7227G>A (p.Gln2409=)
c.7224G>A (p.Gln2408=)
c.7170G>A (p.Gln2390=)
c.7140G>A (p.Gln2380=)
c.7095G>A (p.Gln2365=)
c.6690G>A (p.Gln2230=)
c.6048G>A (p.Gln2016=)
c.3558G>A (p.Gln1186=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798559G>CCA5546234CDH23c.7035G>C (p.Gln2345His)
c.968G>C (n.968G>C)
c.632G>C (n.632G>C)
c.7050G>C (p.Gln2350His)
c.315G>C (p.Gln105His)
n.571G>C
c.7230G>C (p.Gln2410His)
c.7164G>C (p.Gln2388His)
c.7227G>C (p.Gln2409His)
c.7224G>C (p.Gln2408His)
c.7170G>C (p.Gln2390His)
c.7140G>C (p.Gln2380His)
c.7095G>C (p.Gln2365His)
c.6690G>C (p.Gln2230His)
c.6048G>C (p.Gln2016His)
c.3558G>C (p.Gln1186His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798559G=CA1918878504CDH23c.7035G= (p.Gln2345=)
c.968G= (n.968G=)
c.632G= (n.632G=)
c.7050G= (p.Gln2350=)
c.315G= (p.Gln105=)
n.571G=
c.7230G= (p.Gln2410=)
c.7164G= (p.Gln2388=)
c.7227G= (p.Gln2409=)
c.7224G= (p.Gln2408=)
c.7170G= (p.Gln2390=)
c.7140G= (p.Gln2380=)
c.7095G= (p.Gln2365=)
c.6690G= (p.Gln2230=)
c.6048G= (p.Gln2016=)
c.3558G= (p.Gln1186=)
10g.71798559G>TCA377158468CDH23c.7035G>T (p.Gln2345His)
c.968G>T (n.968G>T)
c.632G>T (n.632G>T)
c.7050G>T (p.Gln2350His)
c.315G>T (p.Gln105His)
n.571G>T
c.7230G>T (p.Gln2410His)
c.7164G>T (p.Gln2388His)
c.7227G>T (p.Gln2409His)
c.7224G>T (p.Gln2408His)
c.7170G>T (p.Gln2390His)
c.7140G>T (p.Gln2380His)
c.7095G>T (p.Gln2365His)
c.6690G>T (p.Gln2230His)
c.6048G>T (p.Gln2016His)
c.3558G>T (p.Gln1186His)
10g.71798560C>ACA377158470CDH23c.7036C>A (p.Leu2346Met)
c.969C>A (n.969C>A)
c.633C>A (n.633C>A)
c.7051C>A (p.Leu2351Met)
c.316C>A (p.Leu106Met)
n.572C>A
c.7231C>A (p.Leu2411Met)
c.7165C>A (p.Leu2389Met)
c.7228C>A (p.Leu2410Met)
c.7225C>A (p.Leu2409Met)
c.7171C>A (p.Leu2391Met)
c.7141C>A (p.Leu2381Met)
c.7096C>A (p.Leu2366Met)
c.6691C>A (p.Leu2231Met)
c.6049C>A (p.Leu2017Met)
c.3559C>A (p.Leu1187Met)
10g.71798560C=CA1918878505CDH23c.7036C= (p.Leu2346=)
c.969C= (n.969C=)
c.633C= (n.633C=)
c.7051C= (p.Leu2351=)
c.316C= (p.Leu106=)
n.572C=
c.7231C= (p.Leu2411=)
c.7165C= (p.Leu2389=)
c.7228C= (p.Leu2410=)
c.7225C= (p.Leu2409=)
c.7171C= (p.Leu2391=)
c.7141C= (p.Leu2381=)
c.7096C= (p.Leu2366=)
c.6691C= (p.Leu2231=)
c.6049C= (p.Leu2017=)
c.3559C= (p.Leu1187=)
10g.71798560C>GCA377158472CDH23c.7036C>G (p.Leu2346Val)
c.969C>G (n.969C>G)
c.633C>G (n.633C>G)
c.7051C>G (p.Leu2351Val)
c.316C>G (p.Leu106Val)
n.572C>G
c.7231C>G (p.Leu2411Val)
c.7165C>G (p.Leu2389Val)
c.7228C>G (p.Leu2410Val)
c.7225C>G (p.Leu2409Val)
c.7171C>G (p.Leu2391Val)
c.7141C>G (p.Leu2381Val)
c.7096C>G (p.Leu2366Val)
c.6691C>G (p.Leu2231Val)
c.6049C>G (p.Leu2017Val)
c.3559C>G (p.Leu1187Val)
10g.71798560C>TCA5546235CDH23c.7036C>T (p.Leu2346=)
c.969C>T (n.969C>T)
c.633C>T (n.633C>T)
c.7051C>T (p.Leu2351=)
c.316C>T (p.Leu106=)
n.572C>T
c.7231C>T (p.Leu2411=)
c.7165C>T (p.Leu2389=)
c.7228C>T (p.Leu2410=)
c.7225C>T (p.Leu2409=)
c.7171C>T (p.Leu2391=)
c.7141C>T (p.Leu2381=)
c.7096C>T (p.Leu2366=)
c.6691C>T (p.Leu2231=)
c.6049C>T (p.Leu2017=)
c.3559C>T (p.Leu1187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798561T>ACA377158477CDH23c.7037T>A (p.Leu2346Gln)
c.970T>A (n.970T>A)
c.634T>A (n.634T>A)
c.7052T>A (p.Leu2351Gln)
c.317T>A (p.Leu106Gln)
n.573T>A
c.7232T>A (p.Leu2411Gln)
c.7166T>A (p.Leu2389Gln)
c.7229T>A (p.Leu2410Gln)
c.7226T>A (p.Leu2409Gln)
c.7172T>A (p.Leu2391Gln)
c.7142T>A (p.Leu2381Gln)
c.7097T>A (p.Leu2366Gln)
c.6692T>A (p.Leu2231Gln)
c.6050T>A (p.Leu2017Gln)
c.3560T>A (p.Leu1187Gln)
10g.71798561T>CCA377158478CDH23c.7037T>C (p.Leu2346Pro)
c.970T>C (n.970T>C)
c.634T>C (n.634T>C)
c.7052T>C (p.Leu2351Pro)
c.317T>C (p.Leu106Pro)
n.573T>C
c.7232T>C (p.Leu2411Pro)
c.7166T>C (p.Leu2389Pro)
c.7229T>C (p.Leu2410Pro)
c.7226T>C (p.Leu2409Pro)
c.7172T>C (p.Leu2391Pro)
c.7142T>C (p.Leu2381Pro)
c.7097T>C (p.Leu2366Pro)
c.6692T>C (p.Leu2231Pro)
c.6050T>C (p.Leu2017Pro)
c.3560T>C (p.Leu1187Pro)
10g.71798561T>GCA377158479CDH23c.7037T>G (p.Leu2346Arg)
c.970T>G (n.970T>G)
c.634T>G (n.634T>G)
c.7052T>G (p.Leu2351Arg)
c.317T>G (p.Leu106Arg)
n.573T>G
c.7232T>G (p.Leu2411Arg)
c.7166T>G (p.Leu2389Arg)
c.7229T>G (p.Leu2410Arg)
c.7226T>G (p.Leu2409Arg)
c.7172T>G (p.Leu2391Arg)
c.7142T>G (p.Leu2381Arg)
c.7097T>G (p.Leu2366Arg)
c.6692T>G (p.Leu2231Arg)
c.6050T>G (p.Leu2017Arg)
c.3560T>G (p.Leu1187Arg)
10g.71798562G>ACA5546236CDH23c.7038G>A (p.Leu2346=)
c.971G>A (n.971G>A)
c.635G>A (n.635G>A)
c.7053G>A (p.Leu2351=)
c.318G>A (p.Leu106=)
n.574G>A
c.7233G>A (p.Leu2411=)
c.7167G>A (p.Leu2389=)
c.7230G>A (p.Leu2410=)
c.7227G>A (p.Leu2409=)
c.7173G>A (p.Leu2391=)
c.7143G>A (p.Leu2381=)
c.7098G>A (p.Leu2366=)
c.6693G>A (p.Leu2231=)
c.6051G>A (p.Leu2017=)
c.3561G>A (p.Leu1187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71798562G>CCA470062186CDH23c.7038G>C (p.Leu2346=)
c.971G>C (n.971G>C)
c.635G>C (n.635G>C)
c.7053G>C (p.Leu2351=)
c.318G>C (p.Leu106=)
n.574G>C
c.7233G>C (p.Leu2411=)
c.7167G>C (p.Leu2389=)
c.7230G>C (p.Leu2410=)
c.7227G>C (p.Leu2409=)
c.7173G>C (p.Leu2391=)
c.7143G>C (p.Leu2381=)
c.7098G>C (p.Leu2366=)
c.6693G>C (p.Leu2231=)
c.6051G>C (p.Leu2017=)
c.3561G>C (p.Leu1187=)
10g.71798562G=CA1918878506CDH23c.7038G= (p.Leu2346=)
c.971G= (n.971G=)
c.635G= (n.635G=)
c.7053G= (p.Leu2351=)
c.318G= (p.Leu106=)
n.574G=
c.7233G= (p.Leu2411=)
c.7167G= (p.Leu2389=)
c.7230G= (p.Leu2410=)
c.7227G= (p.Leu2409=)
c.7173G= (p.Leu2391=)
c.7143G= (p.Leu2381=)
c.7098G= (p.Leu2366=)
c.6693G= (p.Leu2231=)
c.6051G= (p.Leu2017=)
c.3561G= (p.Leu1187=)
10g.71798562G>TCA470062187CDH23c.7038G>T (p.Leu2346=)
c.971G>T (n.971G>T)
c.635G>T (n.635G>T)
c.7053G>T (p.Leu2351=)
c.318G>T (p.Leu106=)
n.574G>T
c.7233G>T (p.Leu2411=)
c.7167G>T (p.Leu2389=)
c.7230G>T (p.Leu2410=)
c.7227G>T (p.Leu2409=)
c.7173G>T (p.Leu2391=)
c.7143G>T (p.Leu2381=)
c.7098G>T (p.Leu2366=)
c.6693G>T (p.Leu2231=)
c.6051G>T (p.Leu2017=)
c.3561G>T (p.Leu1187=)
10g.71798563G>ACA377158480CDH23c.7039G>A (p.Glu2347Lys)
c.972G>A (n.972G>A)
c.636G>A (n.636G>A)
c.7054G>A (p.Glu2352Lys)
c.319G>A (p.Glu107Lys)
n.575G>A
c.7234G>A (p.Glu2412Lys)
c.7168G>A (p.Glu2390Lys)
c.7231G>A (p.Glu2411Lys)
c.7228G>A (p.Glu2410Lys)
c.7174G>A (p.Glu2392Lys)
c.7144G>A (p.Glu2382Lys)
c.7099G>A (p.Glu2367Lys)
c.6694G>A (p.Glu2232Lys)
c.6052G>A (p.Glu2018Lys)
c.3562G>A (p.Glu1188Lys)
10g.71798563G>CCA377158481CDH23c.7039G>C (p.Glu2347Gln)
c.972G>C (n.972G>C)
c.636G>C (n.636G>C)
c.7054G>C (p.Glu2352Gln)
c.319G>C (p.Glu107Gln)
n.575G>C
c.7234G>C (p.Glu2412Gln)
c.7168G>C (p.Glu2390Gln)
c.7231G>C (p.Glu2411Gln)
c.7228G>C (p.Glu2410Gln)
c.7174G>C (p.Glu2392Gln)
c.7144G>C (p.Glu2382Gln)
c.7099G>C (p.Glu2367Gln)
c.6694G>C (p.Glu2232Gln)
c.6052G>C (p.Glu2018Gln)
c.3562G>C (p.Glu1188Gln)
10g.71798563G>TCA377158485CDH23c.7039G>T (p.Glu2347Ter)
c.972G>T (n.972G>T)
c.636G>T (n.636G>T)
c.7054G>T (p.Glu2352Ter)
c.319G>T (p.Glu107Ter)
n.575G>T
c.7234G>T (p.Glu2412Ter)
c.7168G>T (p.Glu2390Ter)
c.7231G>T (p.Glu2411Ter)
c.7228G>T (p.Glu2410Ter)
c.7174G>T (p.Glu2392Ter)
c.7144G>T (p.Glu2382Ter)
c.7099G>T (p.Glu2367Ter)
c.6694G>T (p.Glu2232Ter)
c.6052G>T (p.Glu2018Ter)
c.3562G>T (p.Glu1188Ter)
10g.71798564A>CCA377158490CDH23c.7040A>C (p.Glu2347Ala)
c.973A>C (n.973A>C)
c.637A>C (n.637A>C)
c.7055A>C (p.Glu2352Ala)
c.320A>C (p.Glu107Ala)
n.576A>C
c.7235A>C (p.Glu2412Ala)
c.7169A>C (p.Glu2390Ala)
c.7232A>C (p.Glu2411Ala)
c.7229A>C (p.Glu2410Ala)
c.7175A>C (p.Glu2392Ala)
c.7145A>C (p.Glu2382Ala)
c.7100A>C (p.Glu2367Ala)
c.6695A>C (p.Glu2232Ala)
c.6053A>C (p.Glu2018Ala)
c.3563A>C (p.Glu1188Ala)
10g.71798564A>GCA377158486CDH23c.7040A>G (p.Glu2347Gly)
c.973A>G (n.973A>G)
c.637A>G (n.637A>G)
c.7055A>G (p.Glu2352Gly)
c.320A>G (p.Glu107Gly)
n.576A>G
c.7235A>G (p.Glu2412Gly)
c.7169A>G (p.Glu2390Gly)
c.7232A>G (p.Glu2411Gly)
c.7229A>G (p.Glu2410Gly)
c.7175A>G (p.Glu2392Gly)
c.7145A>G (p.Glu2382Gly)
c.7100A>G (p.Glu2367Gly)
c.6695A>G (p.Glu2232Gly)
c.6053A>G (p.Glu2018Gly)
c.3563A>G (p.Glu1188Gly)
10g.71798564A>TCA377158488CDH23c.7040A>T (p.Glu2347Val)
c.973A>T (n.973A>T)
c.637A>T (n.637A>T)
c.7055A>T (p.Glu2352Val)
c.320A>T (p.Glu107Val)
n.576A>T
c.7235A>T (p.Glu2412Val)
c.7169A>T (p.Glu2390Val)
c.7232A>T (p.Glu2411Val)
c.7229A>T (p.Glu2410Val)
c.7175A>T (p.Glu2392Val)
c.7145A>T (p.Glu2382Val)
c.7100A>T (p.Glu2367Val)
c.6695A>T (p.Glu2232Val)
c.6053A>T (p.Glu2018Val)
c.3563A>T (p.Glu1188Val)
10g.71798565G>ACA470062188CDH23c.7041G>A (p.Glu2347=)
c.974G>A (n.974G>A)
c.638G>A (n.638G>A)
c.7056G>A (p.Glu2352=)
c.321G>A (p.Glu107=)
n.577G>A
c.7236G>A (p.Glu2412=)
c.7170G>A (p.Glu2390=)
c.7233G>A (p.Glu2411=)
c.7230G>A (p.Glu2410=)
c.7176G>A (p.Glu2392=)
c.7146G>A (p.Glu2382=)
c.7101G>A (p.Glu2367=)
c.6696G>A (p.Glu2232=)
c.6054G>A (p.Glu2018=)
c.3564G>A (p.Glu1188=)
 ClinVar gnomAD v4
10g.71798565G>CCA377158492CDH23c.7041G>C (p.Glu2347Asp)
c.974G>C (n.974G>C)
c.638G>C (n.638G>C)
c.7056G>C (p.Glu2352Asp)
c.321G>C (p.Glu107Asp)
n.577G>C
c.7236G>C (p.Glu2412Asp)
c.7170G>C (p.Glu2390Asp)
c.7233G>C (p.Glu2411Asp)
c.7230G>C (p.Glu2410Asp)
c.7176G>C (p.Glu2392Asp)
c.7146G>C (p.Glu2382Asp)
c.7101G>C (p.Glu2367Asp)
c.6696G>C (p.Glu2232Asp)
c.6054G>C (p.Glu2018Asp)
c.3564G>C (p.Glu1188Asp)
10g.71798565G>TCA377158493CDH23c.7041G>T (p.Glu2347Asp)
c.974G>T (n.974G>T)
c.638G>T (n.638G>T)
c.7056G>T (p.Glu2352Asp)
c.321G>T (p.Glu107Asp)
n.577G>T
c.7236G>T (p.Glu2412Asp)
c.7170G>T (p.Glu2390Asp)
c.7233G>T (p.Glu2411Asp)
c.7230G>T (p.Glu2410Asp)
c.7176G>T (p.Glu2392Asp)
c.7146G>T (p.Glu2382Asp)
c.7101G>T (p.Glu2367Asp)
c.6696G>T (p.Glu2232Asp)
c.6054G>T (p.Glu2018Asp)
c.3564G>T (p.Glu1188Asp)
10g.71798566G>ACA377158495CDH23c.7042G>A (p.Asp2348Asn)
c.975G>A (n.975G>A)
c.639G>A (n.639G>A)
c.7057G>A (p.Asp2353Asn)
c.322G>A (p.Asp108Asn)
n.578G>A
c.7237G>A (p.Asp2413Asn)
c.7171G>A (p.Asp2391Asn)
c.7234G>A (p.Asp2412Asn)
c.7231G>A (p.Asp2411Asn)
c.7177G>A (p.Asp2393Asn)
c.7147G>A (p.Asp2383Asn)
c.7102G>A (p.Asp2368Asn)
c.6697G>A (p.Asp2233Asn)
c.6055G>A (p.Asp2019Asn)
c.3565G>A (p.Asp1189Asn)
10g.71798566G>CCA377158496CDH23c.7042G>C (p.Asp2348His)
c.975G>C (n.975G>C)
c.639G>C (n.639G>C)
c.7057G>C (p.Asp2353His)
c.322G>C (p.Asp108His)
n.578G>C
c.7237G>C (p.Asp2413His)
c.7171G>C (p.Asp2391His)
c.7234G>C (p.Asp2412His)
c.7231G>C (p.Asp2411His)
c.7177G>C (p.Asp2393His)
c.7147G>C (p.Asp2383His)
c.7102G>C (p.Asp2368His)
c.6697G>C (p.Asp2233His)
c.6055G>C (p.Asp2019His)
c.3565G>C (p.Asp1189His)
10g.71798566G>TCA377158497CDH23c.7042G>T (p.Asp2348Tyr)
c.975G>T (n.975G>T)
c.639G>T (n.639G>T)
c.7057G>T (p.Asp2353Tyr)
c.322G>T (p.Asp108Tyr)
n.578G>T
c.7237G>T (p.Asp2413Tyr)
c.7171G>T (p.Asp2391Tyr)
c.7234G>T (p.Asp2412Tyr)
c.7231G>T (p.Asp2411Tyr)
c.7177G>T (p.Asp2393Tyr)
c.7147G>T (p.Asp2383Tyr)
c.7102G>T (p.Asp2368Tyr)
c.6697G>T (p.Asp2233Tyr)
c.6055G>T (p.Asp2019Tyr)
c.3565G>T (p.Asp1189Tyr)
10g.71798567A>CCA377158500CDH23c.7043A>C (p.Asp2348Ala)
c.976A>C (n.976A>C)
c.640A>C (n.640A>C)
c.7058A>C (p.Asp2353Ala)
c.323A>C (p.Asp108Ala)
n.579A>C
c.7238A>C (p.Asp2413Ala)
c.7172A>C (p.Asp2391Ala)
c.7235A>C (p.Asp2412Ala)
c.7232A>C (p.Asp2411Ala)
c.7178A>C (p.Asp2393Ala)
c.7148A>C (p.Asp2383Ala)
c.7103A>C (p.Asp2368Ala)
c.6698A>C (p.Asp2233Ala)
c.6056A>C (p.Asp2019Ala)
c.3566A>C (p.Asp1189Ala)
10g.71798567A>GCA377158503CDH23c.7043A>G (p.Asp2348Gly)
c.976A>G (n.976A>G)
c.640A>G (n.640A>G)
c.7058A>G (p.Asp2353Gly)
c.323A>G (p.Asp108Gly)
n.579A>G
c.7238A>G (p.Asp2413Gly)
c.7172A>G (p.Asp2391Gly)
c.7235A>G (p.Asp2412Gly)
c.7232A>G (p.Asp2411Gly)
c.7178A>G (p.Asp2393Gly)
c.7148A>G (p.Asp2383Gly)
c.7103A>G (p.Asp2368Gly)
c.6698A>G (p.Asp2233Gly)
c.6056A>G (p.Asp2019Gly)
c.3566A>G (p.Asp1189Gly)
10g.71798567A>TCA377158502CDH23c.7043A>T (p.Asp2348Val)
c.976A>T (n.976A>T)
c.640A>T (n.640A>T)
c.7058A>T (p.Asp2353Val)
c.323A>T (p.Asp108Val)
n.579A>T
c.7238A>T (p.Asp2413Val)
c.7172A>T (p.Asp2391Val)
c.7235A>T (p.Asp2412Val)
c.7232A>T (p.Asp2411Val)
c.7178A>T (p.Asp2393Val)
c.7148A>T (p.Asp2383Val)
c.7103A>T (p.Asp2368Val)
c.6698A>T (p.Asp2233Val)
c.6056A>T (p.Asp2019Val)
c.3566A>T (p.Asp1189Val)
10g.71798568C>ACA377158504CDH23c.7044C>A (p.Asp2348Glu)
c.977C>A (n.977C>A)
c.641C>A (n.641C>A)
c.7059C>A (p.Asp2353Glu)
c.324C>A (p.Asp108Glu)
n.580C>A
c.7239C>A (p.Asp2413Glu)
c.7173C>A (p.Asp2391Glu)
c.7236C>A (p.Asp2412Glu)
c.7233C>A (p.Asp2411Glu)
c.7179C>A (p.Asp2393Glu)
c.7149C>A (p.Asp2383Glu)
c.7104C>A (p.Asp2368Glu)
c.6699C>A (p.Asp2233Glu)
c.6057C>A (p.Asp2019Glu)
c.3567C>A (p.Asp1189Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.71798568C=CA1918878507CDH23c.7044C= (p.Asp2348=)
c.977C= (n.977C=)
c.641C= (n.641C=)
c.7059C= (p.Asp2353=)
c.324C= (p.Asp108=)
n.580C=
c.7239C= (p.Asp2413=)
c.7173C= (p.Asp2391=)
c.7236C= (p.Asp2412=)
c.7233C= (p.Asp2411=)
c.7179C= (p.Asp2393=)
c.7149C= (p.Asp2383=)
c.7104C= (p.Asp2368=)
c.6699C= (p.Asp2233=)
c.6057C= (p.Asp2019=)
c.3567C= (p.Asp1189=)
10g.71798568C>GCA377158505CDH23c.7044C>G (p.Asp2348Glu)
c.977C>G (n.977C>G)
c.641C>G (n.641C>G)
c.7059C>G (p.Asp2353Glu)
c.324C>G (p.Asp108Glu)
n.580C>G
c.7239C>G (p.Asp2413Glu)
c.7173C>G (p.Asp2391Glu)
c.7236C>G (p.Asp2412Glu)
c.7233C>G (p.Asp2411Glu)
c.7179C>G (p.Asp2393Glu)
c.7149C>G (p.Asp2383Glu)
c.7104C>G (p.Asp2368Glu)
c.6699C>G (p.Asp2233Glu)
c.6057C>G (p.Asp2019Glu)
c.3567C>G (p.Asp1189Glu)
10g.71798568C>TCA470062190CDH23c.7044C>T (p.Asp2348=)
c.977C>T (n.977C>T)
c.641C>T (n.641C>T)
c.7059C>T (p.Asp2353=)
c.324C>T (p.Asp108=)
n.580C>T
c.7239C>T (p.Asp2413=)
c.7173C>T (p.Asp2391=)
c.7236C>T (p.Asp2412=)
c.7233C>T (p.Asp2411=)
c.7179C>T (p.Asp2393=)
c.7149C>T (p.Asp2383=)
c.7104C>T (p.Asp2368=)
c.6699C>T (p.Asp2233=)
c.6057C>T (p.Asp2019=)
c.3567C>T (p.Asp1189=)
10g.71798574_71798670delCA2788486896CDH23c.7050_7054+92del
c.983_987+92del
c.647_651+92del
c.7065_7069+92del
c.330_334+92del
n.586_590+92del
c.7245_7249+92del
c.7179_7183+92del
c.7242_7246+92del
c.7239_7243+92del
c.7185_7189+92del
c.7155_7159+92del
c.7110_7114+92del
c.6705_6709+92del
c.6063_6067+92del
c.3573_3577+92del
10g.71798569T>ACA377158506CDH23c.7045T>A (p.Ser2349Thr)
c.978T>A (n.978T>A)
c.642T>A (n.642T>A)
c.7060T>A (p.Ser2354Thr)
c.325T>A (p.Ser109Thr)
n.581T>A
c.7240T>A (p.Ser2414Thr)
c.7174T>A (p.Ser2392Thr)
c.7237T>A (p.Ser2413Thr)
c.7234T>A (p.Ser2412Thr)
c.7180T>A (p.Ser2394Thr)
c.7150T>A (p.Ser2384Thr)
c.7105T>A (p.Ser2369Thr)
c.6700T>A (p.Ser2234Thr)
c.6058T>A (p.Ser2020Thr)
c.3568T>A (p.Ser1190Thr)
10g.71798569T>CCA377158507CDH23c.7045T>C (p.Ser2349Pro)
c.978T>C (n.978T>C)
c.642T>C (n.642T>C)
c.7060T>C (p.Ser2354Pro)
c.325T>C (p.Ser109Pro)
n.581T>C
c.7240T>C (p.Ser2414Pro)
c.7174T>C (p.Ser2392Pro)
c.7237T>C (p.Ser2413Pro)
c.7234T>C (p.Ser2412Pro)
c.7180T>C (p.Ser2394Pro)
c.7150T>C (p.Ser2384Pro)
c.7105T>C (p.Ser2369Pro)
c.6700T>C (p.Ser2234Pro)
c.6058T>C (p.Ser2020Pro)
c.3568T>C (p.Ser1190Pro)
10g.71798569T>GCA377158508CDH23c.7045T>G (p.Ser2349Ala)
c.978T>G (n.978T>G)
c.642T>G (n.642T>G)
c.7060T>G (p.Ser2354Ala)
c.325T>G (p.Ser109Ala)
n.581T>G
c.7240T>G (p.Ser2414Ala)
c.7174T>G (p.Ser2392Ala)
c.7237T>G (p.Ser2413Ala)
c.7234T>G (p.Ser2412Ala)
c.7180T>G (p.Ser2394Ala)
c.7150T>G (p.Ser2384Ala)
c.7105T>G (p.Ser2369Ala)
c.6700T>G (p.Ser2234Ala)
c.6058T>G (p.Ser2020Ala)
c.3568T>G (p.Ser1190Ala)
10g.71798569dupCA1918878508CDH23c.7045dup (p.Ser2349PhefsTer?)
c.978dup (n.978dup)
c.642dup (n.642dup)
c.7060dup (p.Ser2354PhefsTer?)
c.325dup (p.Ser109PhefsTer?)
n.581dup
c.7240dup (p.Ser2414PhefsTer?)
c.7174dup (p.Ser2392PhefsTer?)
c.7237dup (p.Ser2413PhefsTer?)
c.7234dup (p.Ser2412PhefsTer?)
c.7180dup (p.Ser2394PhefsTer?)
c.7150dup (p.Ser2384PhefsTer?)
c.7105dup (p.Ser2369PhefsTer?)
c.6700dup (p.Ser2234PhefsTer?)
c.6058dup (p.Ser2020PhefsTer?)
c.3568dup (p.Ser1190PhefsTer?)
 dbSNP gnomAD v3 gnomAD v4
10g.71798570C>ACA377158510CDH23c.7046C>A (p.Ser2349Tyr)
c.979C>A (n.979C>A)
c.643C>A (n.643C>A)
c.7061C>A (p.Ser2354Tyr)
c.326C>A (p.Ser109Tyr)
n.582C>A
c.7241C>A (p.Ser2414Tyr)
c.7175C>A (p.Ser2392Tyr)
c.7238C>A (p.Ser2413Tyr)
c.7235C>A (p.Ser2412Tyr)
c.7181C>A (p.Ser2394Tyr)
c.7151C>A (p.Ser2384Tyr)
c.7106C>A (p.Ser2369Tyr)
c.6701C>A (p.Ser2234Tyr)
c.6059C>A (p.Ser2020Tyr)
c.3569C>A (p.Ser1190Tyr)
 ClinVar
10g.71798570C>GCA377158512CDH23c.7046C>G (p.Ser2349Cys)
c.979C>G (n.979C>G)
c.643C>G (n.643C>G)
c.7061C>G (p.Ser2354Cys)
c.326C>G (p.Ser109Cys)
n.582C>G
c.7241C>G (p.Ser2414Cys)
c.7175C>G (p.Ser2392Cys)
c.7238C>G (p.Ser2413Cys)
c.7235C>G (p.Ser2412Cys)
c.7181C>G (p.Ser2394Cys)
c.7151C>G (p.Ser2384Cys)
c.7106C>G (p.Ser2369Cys)
c.6701C>G (p.Ser2234Cys)
c.6059C>G (p.Ser2020Cys)
c.3569C>G (p.Ser1190Cys)
10g.71798570C>TCA377158513CDH23c.7046C>T (p.Ser2349Phe)
c.979C>T (n.979C>T)
c.643C>T (n.643C>T)
c.7061C>T (p.Ser2354Phe)
c.326C>T (p.Ser109Phe)
n.582C>T
c.7241C>T (p.Ser2414Phe)
c.7175C>T (p.Ser2392Phe)
c.7238C>T (p.Ser2413Phe)
c.7235C>T (p.Ser2412Phe)
c.7181C>T (p.Ser2394Phe)
c.7151C>T (p.Ser2384Phe)
c.7106C>T (p.Ser2369Phe)
c.6701C>T (p.Ser2234Phe)
c.6059C>T (p.Ser2020Phe)
c.3569C>T (p.Ser1190Phe)
10g.71798571C>ACA470062191CDH23c.7047C>A (p.Ser2349=)
c.980C>A (n.980C>A)
c.644C>A (n.644C>A)
c.7062C>A (p.Ser2354=)
c.327C>A (p.Ser109=)
n.583C>A
c.7242C>A (p.Ser2414=)
c.7176C>A (p.Ser2392=)
c.7239C>A (p.Ser2413=)
c.7236C>A (p.Ser2412=)
c.7182C>A (p.Ser2394=)
c.7152C>A (p.Ser2384=)
c.7107C>A (p.Ser2369=)
c.6702C>A (p.Ser2234=)
c.6060C>A (p.Ser2020=)
c.3570C>A (p.Ser1190=)
10g.71798571C>GCA470062192CDH23c.7047C>G (p.Ser2349=)
c.980C>G (n.980C>G)
c.644C>G (n.644C>G)
c.7062C>G (p.Ser2354=)
c.327C>G (p.Ser109=)
n.583C>G
c.7242C>G (p.Ser2414=)
c.7176C>G (p.Ser2392=)
c.7239C>G (p.Ser2413=)
c.7236C>G (p.Ser2412=)
c.7182C>G (p.Ser2394=)
c.7152C>G (p.Ser2384=)
c.7107C>G (p.Ser2369=)
c.6702C>G (p.Ser2234=)
c.6060C>G (p.Ser2020=)
c.3570C>G (p.Ser1190=)
10g.71798571C>TCA470062193CDH23c.7047C>T (p.Ser2349=)
c.980C>T (n.980C>T)
c.644C>T (n.644C>T)
c.7062C>T (p.Ser2354=)
c.327C>T (p.Ser109=)
n.583C>T
c.7242C>T (p.Ser2414=)
c.7176C>T (p.Ser2392=)
c.7239C>T (p.Ser2413=)
c.7236C>T (p.Ser2412=)
c.7182C>T (p.Ser2394=)
c.7152C>T (p.Ser2384=)
c.7107C>T (p.Ser2369=)
c.6702C>T (p.Ser2234=)
c.6060C>T (p.Ser2020=)
c.3570C>T (p.Ser1190=)
10g.71798572T>ACA377158516CDH23c.7048T>A (p.Ser2350Thr)
c.981T>A (n.981T>A)
c.645T>A (n.645T>A)
c.7063T>A (p.Ser2355Thr)
c.328T>A (p.Ser110Thr)
n.584T>A
c.7243T>A (p.Ser2415Thr)
c.7177T>A (p.Ser2393Thr)
c.7240T>A (p.Ser2414Thr)
c.7237T>A (p.Ser2413Thr)
c.7183T>A (p.Ser2395Thr)
c.7153T>A (p.Ser2385Thr)
c.7108T>A (p.Ser2370Thr)
c.6703T>A (p.Ser2235Thr)
c.6061T>A (p.Ser2021Thr)
c.3571T>A (p.Ser1191Thr)
 COSMIC
10g.71798572T>CCA377158518CDH23c.7048T>C (p.Ser2350Pro)
c.981T>C (n.981T>C)
c.645T>C (n.645T>C)
c.7063T>C (p.Ser2355Pro)
c.328T>C (p.Ser110Pro)
n.584T>C
c.7243T>C (p.Ser2415Pro)
c.7177T>C (p.Ser2393Pro)
c.7240T>C (p.Ser2414Pro)
c.7237T>C (p.Ser2413Pro)
c.7183T>C (p.Ser2395Pro)
c.7153T>C (p.Ser2385Pro)
c.7108T>C (p.Ser2370Pro)
c.6703T>C (p.Ser2235Pro)
c.6061T>C (p.Ser2021Pro)
c.3571T>C (p.Ser1191Pro)
10g.71798572T>GCA377158519CDH23c.7048T>G (p.Ser2350Ala)
c.981T>G (n.981T>G)
c.645T>G (n.645T>G)
c.7063T>G (p.Ser2355Ala)
c.328T>G (p.Ser110Ala)
n.584T>G
c.7243T>G (p.Ser2415Ala)
c.7177T>G (p.Ser2393Ala)
c.7240T>G (p.Ser2414Ala)
c.7237T>G (p.Ser2413Ala)
c.7183T>G (p.Ser2395Ala)
c.7153T>G (p.Ser2385Ala)
c.7108T>G (p.Ser2370Ala)
c.6703T>G (p.Ser2235Ala)
c.6061T>G (p.Ser2021Ala)
c.3571T>G (p.Ser1191Ala)
10g.71798573C>ACA377158522CDH23c.7049C>A (p.Ser2350Ter)
c.982C>A (n.982C>A)
c.646C>A (n.646C>A)
c.7064C>A (p.Ser2355Ter)
c.329C>A (p.Ser110Ter)
n.585C>A
c.7244C>A (p.Ser2415Ter)
c.7178C>A (p.Ser2393Ter)
c.7241C>A (p.Ser2414Ter)
c.7238C>A (p.Ser2413Ter)
c.7184C>A (p.Ser2395Ter)
c.7154C>A (p.Ser2385Ter)
c.7109C>A (p.Ser2370Ter)
c.6704C>A (p.Ser2235Ter)
c.6062C>A (p.Ser2021Ter)
c.3572C>A (p.Ser1191Ter)
 gnomAD v4
10g.71798573C=CA1918878509CDH23c.7049C= (p.Ser2350=)
c.982C= (n.982C=)
c.646C= (n.646C=)
c.7064C= (p.Ser2355=)
c.329C= (p.Ser110=)
n.585C=
c.7244C= (p.Ser2415=)
c.7178C= (p.Ser2393=)
c.7241C= (p.Ser2414=)
c.7238C= (p.Ser2413=)
c.7184C= (p.Ser2395=)
c.7154C= (p.Ser2385=)
c.7109C= (p.Ser2370=)
c.6704C= (p.Ser2235=)
c.6062C= (p.Ser2021=)
c.3572C= (p.Ser1191=)
10g.71798573C>GCA377158526CDH23c.7049C>G (p.Ser2350Trp)
c.982C>G (n.982C>G)
c.646C>G (n.646C>G)
c.7064C>G (p.Ser2355Trp)
c.329C>G (p.Ser110Trp)
n.585C>G
c.7244C>G (p.Ser2415Trp)
c.7178C>G (p.Ser2393Trp)
c.7241C>G (p.Ser2414Trp)
c.7238C>G (p.Ser2413Trp)
c.7184C>G (p.Ser2395Trp)
c.7154C>G (p.Ser2385Trp)
c.7109C>G (p.Ser2370Trp)
c.6704C>G (p.Ser2235Trp)
c.6062C>G (p.Ser2021Trp)
c.3572C>G (p.Ser1191Trp)
 dbSNP
10g.71798573C>TCA223630CDH23c.7049C>T (p.Ser2350Leu)
c.982C>T (n.982C>T)
c.646C>T (n.646C>T)
c.7064C>T (p.Ser2355Leu)
c.329C>T (p.Ser110Leu)
n.585C>T
c.7244C>T (p.Ser2415Leu)
c.7178C>T (p.Ser2393Leu)
c.7241C>T (p.Ser2414Leu)
c.7238C>T (p.Ser2413Leu)
c.7184C>T (p.Ser2395Leu)
c.7154C>T (p.Ser2385Leu)
c.7109C>T (p.Ser2370Leu)
c.6704C>T (p.Ser2235Leu)
c.6062C>T (p.Ser2021Leu)
c.3572C>T (p.Ser1191Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798574G>ACA5546237CDH23c.7050G>A (p.Ser2350=)
c.983G>A (n.983G>A)
c.647G>A (n.647G>A)
c.7065G>A (p.Ser2355=)
c.330G>A (p.Ser110=)
n.586G>A
c.7245G>A (p.Ser2415=)
c.7179G>A (p.Ser2393=)
c.7242G>A (p.Ser2414=)
c.7239G>A (p.Ser2413=)
c.7185G>A (p.Ser2395=)
c.7155G>A (p.Ser2385=)
c.7110G>A (p.Ser2370=)
c.6705G>A (p.Ser2235=)
c.6063G>A (p.Ser2021=)
c.3573G>A (p.Ser1191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71798574G>CCA470062197CDH23c.7050G>C (p.Ser2350=)
c.983G>C (n.983G>C)
c.647G>C (n.647G>C)
c.7065G>C (p.Ser2355=)
c.330G>C (p.Ser110=)
n.586G>C
c.7245G>C (p.Ser2415=)
c.7179G>C (p.Ser2393=)
c.7242G>C (p.Ser2414=)
c.7239G>C (p.Ser2413=)
c.7185G>C (p.Ser2395=)
c.7155G>C (p.Ser2385=)
c.7110G>C (p.Ser2370=)
c.6705G>C (p.Ser2235=)
c.6063G>C (p.Ser2021=)
c.3573G>C (p.Ser1191=)
10g.71798574G=CA1918878510CDH23c.7050G= (p.Ser2350=)
c.983G= (n.983G=)
c.647G= (n.647G=)
c.7065G= (p.Ser2355=)
c.330G= (p.Ser110=)
n.586G=
c.7245G= (p.Ser2415=)
c.7179G= (p.Ser2393=)
c.7242G= (p.Ser2414=)
c.7239G= (p.Ser2413=)
c.7185G= (p.Ser2395=)
c.7155G= (p.Ser2385=)
c.7110G= (p.Ser2370=)
c.6705G= (p.Ser2235=)
c.6063G= (p.Ser2021=)
c.3573G= (p.Ser1191=)
10g.71798574G>TCA470062196CDH23c.7050G>T (p.Ser2350=)
c.983G>T (n.983G>T)
c.647G>T (n.647G>T)
c.7065G>T (p.Ser2355=)
c.330G>T (p.Ser110=)
n.586G>T
c.7245G>T (p.Ser2415=)
c.7179G>T (p.Ser2393=)
c.7242G>T (p.Ser2414=)
c.7239G>T (p.Ser2413=)
c.7185G>T (p.Ser2395=)
c.7155G>T (p.Ser2385=)
c.7110G>T (p.Ser2370=)
c.6705G>T (p.Ser2235=)
c.6063G>T (p.Ser2021=)
c.3573G>T (p.Ser1191=)
10g.71798575_71798579dupCA2695212112CDH23c.7051_7054+1dup
c.984_987+1dup
c.648_651+1dup
c.7066_7069+1dup
c.331_334+1dup
n.587_590+1dup
c.7246_7249+1dup
c.7180_7183+1dup
c.7243_7246+1dup
c.7240_7243+1dup
c.7186_7189+1dup
c.7156_7159+1dup
c.7111_7114+1dup
c.6706_6709+1dup
c.6064_6067+1dup
c.3574_3577+1dup
10g.71798575G>ACA377158528CDH23c.7051G>A (p.Ala2351Thr)
c.984G>A (n.984G>A)
c.648G>A (n.648G>A)
c.7066G>A (p.Ala2356Thr)
c.331G>A (p.Ala111Thr)
n.587G>A
c.7246G>A (p.Ala2416Thr)
c.7180G>A (p.Ala2394Thr)
c.7243G>A (p.Ala2415Thr)
c.7240G>A (p.Ala2414Thr)
c.7186G>A (p.Ala2396Thr)
c.7156G>A (p.Ala2386Thr)
c.7111G>A (p.Ala2371Thr)
c.6706G>A (p.Ala2236Thr)
c.6064G>A (p.Ala2022Thr)
c.3574G>A (p.Ala1192Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.71798575G>CCA377158530CDH23c.7051G>C (p.Ala2351Pro)
c.984G>C (n.984G>C)
c.648G>C (n.648G>C)
c.7066G>C (p.Ala2356Pro)
c.331G>C (p.Ala111Pro)
n.587G>C
c.7246G>C (p.Ala2416Pro)
c.7180G>C (p.Ala2394Pro)
c.7243G>C (p.Ala2415Pro)
c.7240G>C (p.Ala2414Pro)
c.7186G>C (p.Ala2396Pro)
c.7156G>C (p.Ala2386Pro)
c.7111G>C (p.Ala2371Pro)
c.6706G>C (p.Ala2236Pro)
c.6064G>C (p.Ala2022Pro)
c.3574G>C (p.Ala1192Pro)
10g.71798575G=CA1918878511CDH23c.7051G= (p.Ala2351=)
c.984G= (n.984G=)
c.648G= (n.648G=)
c.7066G= (p.Ala2356=)
c.331G= (p.Ala111=)
n.587G=
c.7246G= (p.Ala2416=)
c.7180G= (p.Ala2394=)
c.7243G= (p.Ala2415=)
c.7240G= (p.Ala2414=)
c.7186G= (p.Ala2396=)
c.7156G= (p.Ala2386=)
c.7111G= (p.Ala2371=)
c.6706G= (p.Ala2236=)
c.6064G= (p.Ala2022=)
c.3574G= (p.Ala1192=)
10g.71798575G>TCA377158531CDH23c.7051G>T (p.Ala2351Ser)
c.984G>T (n.984G>T)
c.648G>T (n.648G>T)
c.7066G>T (p.Ala2356Ser)
c.331G>T (p.Ala111Ser)
n.587G>T
c.7246G>T (p.Ala2416Ser)
c.7180G>T (p.Ala2394Ser)
c.7243G>T (p.Ala2415Ser)
c.7240G>T (p.Ala2414Ser)
c.7186G>T (p.Ala2396Ser)
c.7156G>T (p.Ala2386Ser)
c.7111G>T (p.Ala2371Ser)
c.6706G>T (p.Ala2236Ser)
c.6064G>T (p.Ala2022Ser)
c.3574G>T (p.Ala1192Ser)
 ClinVar dbSNP
10g.71798576C>ACA377158533CDH23c.7052C>A (p.Ala2351Glu)
c.985C>A (n.985C>A)
c.649C>A (n.649C>A)
c.7067C>A (p.Ala2356Glu)
c.332C>A (p.Ala111Glu)
n.588C>A
c.7247C>A (p.Ala2416Glu)
c.7181C>A (p.Ala2394Glu)
c.7244C>A (p.Ala2415Glu)
c.7241C>A (p.Ala2414Glu)
c.7187C>A (p.Ala2396Glu)
c.7157C>A (p.Ala2386Glu)
c.7112C>A (p.Ala2371Glu)
c.6707C>A (p.Ala2236Glu)
c.6065C>A (p.Ala2022Glu)
c.3575C>A (p.Ala1192Glu)
 gnomAD v4
10g.71798576C=CA1918878512CDH23c.7052C= (p.Ala2351=)
c.985C= (n.985C=)
c.649C= (n.649C=)
c.7067C= (p.Ala2356=)
c.332C= (p.Ala111=)
n.588C=
c.7247C= (p.Ala2416=)
c.7181C= (p.Ala2394=)
c.7244C= (p.Ala2415=)
c.7241C= (p.Ala2414=)
c.7187C= (p.Ala2396=)
c.7157C= (p.Ala2386=)
c.7112C= (p.Ala2371=)
c.6707C= (p.Ala2236=)
c.6065C= (p.Ala2022=)
c.3575C= (p.Ala1192=)
10g.71798576C>GCA377158534CDH23c.7052C>G (p.Ala2351Gly)
c.985C>G (n.985C>G)
c.649C>G (n.649C>G)
c.7067C>G (p.Ala2356Gly)
c.332C>G (p.Ala111Gly)
n.588C>G
c.7247C>G (p.Ala2416Gly)
c.7181C>G (p.Ala2394Gly)
c.7244C>G (p.Ala2415Gly)
c.7241C>G (p.Ala2414Gly)
c.7187C>G (p.Ala2396Gly)
c.7157C>G (p.Ala2386Gly)
c.7112C>G (p.Ala2371Gly)
c.6707C>G (p.Ala2236Gly)
c.6065C>G (p.Ala2022Gly)
c.3575C>G (p.Ala1192Gly)
10g.71798576C>TCA5546238CDH23c.7052C>T (p.Ala2351Val)
c.985C>T (n.985C>T)
c.649C>T (n.649C>T)
c.7067C>T (p.Ala2356Val)
c.332C>T (p.Ala111Val)
n.588C>T
c.7247C>T (p.Ala2416Val)
c.7181C>T (p.Ala2394Val)
c.7244C>T (p.Ala2415Val)
c.7241C>T (p.Ala2414Val)
c.7187C>T (p.Ala2396Val)
c.7157C>T (p.Ala2386Val)
c.7112C>T (p.Ala2371Val)
c.6707C>T (p.Ala2236Val)
c.6065C>T (p.Ala2022Val)
c.3575C>T (p.Ala1192Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798577A>CCA470062198CDH23c.7053A>C (p.Ala2351=)
c.986A>C (n.986A>C)
c.650A>C (n.650A>C)
c.7068A>C (p.Ala2356=)
c.333A>C (p.Ala111=)
n.589A>C
c.7248A>C (p.Ala2416=)
c.7182A>C (p.Ala2394=)
c.7245A>C (p.Ala2415=)
c.7242A>C (p.Ala2414=)
c.7188A>C (p.Ala2396=)
c.7158A>C (p.Ala2386=)
c.7113A>C (p.Ala2371=)
c.6708A>C (p.Ala2236=)
c.6066A>C (p.Ala2022=)
c.3576A>C (p.Ala1192=)
 gnomAD v4
10g.71798577A>GCA470062199CDH23c.7053A>G (p.Ala2351=)
c.986A>G (n.986A>G)
c.650A>G (n.650A>G)
c.7068A>G (p.Ala2356=)
c.333A>G (p.Ala111=)
n.589A>G
c.7248A>G (p.Ala2416=)
c.7182A>G (p.Ala2394=)
c.7245A>G (p.Ala2415=)
c.7242A>G (p.Ala2414=)
c.7188A>G (p.Ala2396=)
c.7158A>G (p.Ala2386=)
c.7113A>G (p.Ala2371=)
c.6708A>G (p.Ala2236=)
c.6066A>G (p.Ala2022=)
c.3576A>G (p.Ala1192=)
10g.71798577A>TCA470062200CDH23c.7053A>T (p.Ala2351=)
c.986A>T (n.986A>T)
c.650A>T (n.650A>T)
c.7068A>T (p.Ala2356=)
c.333A>T (p.Ala111=)
n.589A>T
c.7248A>T (p.Ala2416=)
c.7182A>T (p.Ala2394=)
c.7245A>T (p.Ala2415=)
c.7242A>T (p.Ala2414=)
c.7188A>T (p.Ala2396=)
c.7158A>T (p.Ala2386=)
c.7113A>T (p.Ala2371=)
c.6708A>T (p.Ala2236=)
c.6066A>T (p.Ala2022=)
c.3576A>T (p.Ala1192=)
10g.71798578G>ACA377158537CDH23c.7054G>A (p.Gly2352Arg)
c.987G>A (n.987G>A)
c.651G>A (n.651G>A)
c.7069G>A (p.Gly2357Arg)
c.334G>A (p.Gly112Arg)
n.590G>A
c.7249G>A (p.Gly2417Arg)
c.7183G>A (p.Gly2395Arg)
c.7246G>A (p.Gly2416Arg)
c.7243G>A (p.Gly2415Arg)
c.7189G>A (p.Gly2397Arg)
c.7159G>A (p.Gly2387Arg)
c.7114G>A (p.Gly2372Arg)
c.6709G>A (p.Gly2237Arg)
c.6067G>A (p.Gly2023Arg)
c.3577G>A (p.Gly1193Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71798578G>CCA377158540CDH23c.7054G>C (p.Gly2352Arg)
c.987G>C (n.987G>C)
c.651G>C (n.651G>C)
c.7069G>C (p.Gly2357Arg)
c.334G>C (p.Gly112Arg)
n.590G>C
c.7249G>C (p.Gly2417Arg)
c.7183G>C (p.Gly2395Arg)
c.7246G>C (p.Gly2416Arg)
c.7243G>C (p.Gly2415Arg)
c.7189G>C (p.Gly2397Arg)
c.7159G>C (p.Gly2387Arg)
c.7114G>C (p.Gly2372Arg)
c.6709G>C (p.Gly2237Arg)
c.6067G>C (p.Gly2023Arg)
c.3577G>C (p.Gly1193Arg)
10g.71798578G=CA1918878513CDH23c.7054G= (p.Gly2352=)
c.987G= (n.987G=)
c.651G= (n.651G=)
c.7069G= (p.Gly2357=)
c.334G= (p.Gly112=)
n.590G=
c.7249G= (p.Gly2417=)
c.7183G= (p.Gly2395=)
c.7246G= (p.Gly2416=)
c.7243G= (p.Gly2415=)
c.7189G= (p.Gly2397=)
c.7159G= (p.Gly2387=)
c.7114G= (p.Gly2372=)
c.6709G= (p.Gly2237=)
c.6067G= (p.Gly2023=)
c.3577G= (p.Gly1193=)
10g.71798578G>TCA377158541CDH23c.7054G>T (p.Gly2352Trp)
c.987G>T (n.987G>T)
c.651G>T (n.651G>T)
c.7069G>T (p.Gly2357Trp)
c.334G>T (p.Gly112Trp)
n.590G>T
c.7249G>T (p.Gly2417Trp)
c.7183G>T (p.Gly2395Trp)
c.7246G>T (p.Gly2416Trp)
c.7243G>T (p.Gly2415Trp)
c.7189G>T (p.Gly2397Trp)
c.7159G>T (p.Gly2387Trp)
c.7114G>T (p.Gly2372Trp)
c.6709G>T (p.Gly2237Trp)
c.6067G>T (p.Gly2023Trp)
c.3577G>T (p.Gly1193Trp)
10g.71798579G>ACA16605679CDH23c.7054+1G>A (n.7054+1G>A)
c.987+1G>A (n.987+1G>A)
c.651+1G>A (n.651+1G>A)
c.7069+1G>A (n.7069+1G>A)
c.334+1G>A (n.334+1G>A)
n.590+1G>A
c.7249+1G>A (n.7249+1G>A)
c.7183+1G>A (n.7183+1G>A)
c.7246+1G>A (n.7246+1G>A)
c.7243+1G>A (n.7243+1G>A)
c.7189+1G>A (n.7189+1G>A)
c.7159+1G>A (n.7159+1G>A)
c.7114+1G>A (n.7114+1G>A)
c.6709+1G>A (n.6709+1G>A)
c.6067+1G>A (n.6067+1G>A)
c.3577+1G>A (n.3577+1G>A)
 ClinVar dbSNP
10g.71798579G>CCA377158542CDH23c.7054+1G>C (n.7054+1G>C)
c.987+1G>C (n.987+1G>C)
c.651+1G>C (n.651+1G>C)
c.7069+1G>C (n.7069+1G>C)
c.334+1G>C (n.334+1G>C)
n.590+1G>C
c.7249+1G>C (n.7249+1G>C)
c.7183+1G>C (n.7183+1G>C)
c.7246+1G>C (n.7246+1G>C)
c.7243+1G>C (n.7243+1G>C)
c.7189+1G>C (n.7189+1G>C)
c.7159+1G>C (n.7159+1G>C)
c.7114+1G>C (n.7114+1G>C)
c.6709+1G>C (n.6709+1G>C)
c.6067+1G>C (n.6067+1G>C)
c.3577+1G>C (n.3577+1G>C)
10g.71798579G=CA1918878514CDH23c.7054+1G= (n.7054+1G=)
c.987+1G= (n.987+1G=)
c.651+1G= (n.651+1G=)
c.7069+1G= (n.7069+1G=)
c.334+1G= (n.334+1G=)
n.590+1G=
c.7249+1G= (n.7249+1G=)
c.7183+1G= (n.7183+1G=)
c.7246+1G= (n.7246+1G=)
c.7243+1G= (n.7243+1G=)
c.7189+1G= (n.7189+1G=)
c.7159+1G= (n.7159+1G=)
c.7114+1G= (n.7114+1G=)
c.6709+1G= (n.6709+1G=)
c.6067+1G= (n.6067+1G=)
c.3577+1G= (n.3577+1G=)
10g.71798579G>TCA377158544CDH23c.7054+1G>T (n.7054+1G>T)
c.987+1G>T (n.987+1G>T)
c.651+1G>T (n.651+1G>T)
c.7069+1G>T (n.7069+1G>T)
c.334+1G>T (n.334+1G>T)
n.590+1G>T
c.7249+1G>T (n.7249+1G>T)
c.7183+1G>T (n.7183+1G>T)
c.7246+1G>T (n.7246+1G>T)
c.7243+1G>T (n.7243+1G>T)
c.7189+1G>T (n.7189+1G>T)
c.7159+1G>T (n.7159+1G>T)
c.7114+1G>T (n.7114+1G>T)
c.6709+1G>T (n.6709+1G>T)
c.6067+1G>T (n.6067+1G>T)
c.3577+1G>T (n.3577+1G>T)
 gnomAD v4
10g.71798580T>ACA377158547CDH23c.7054+2T>A (n.7054+2T>A)
c.987+2T>A (n.987+2T>A)
c.651+2T>A (n.651+2T>A)
c.7069+2T>A (n.7069+2T>A)
c.334+2T>A (n.334+2T>A)
n.590+2T>A
c.7249+2T>A (n.7249+2T>A)
c.7183+2T>A (n.7183+2T>A)
c.7246+2T>A (n.7246+2T>A)
c.7243+2T>A (n.7243+2T>A)
c.7189+2T>A (n.7189+2T>A)
c.7159+2T>A (n.7159+2T>A)
c.7114+2T>A (n.7114+2T>A)
c.6709+2T>A (n.6709+2T>A)
c.6067+2T>A (n.6067+2T>A)
c.3577+2T>A (n.3577+2T>A)
10g.71798580T>CCA377158556CDH23c.7054+2T>C (n.7054+2T>C)
c.987+2T>C (n.987+2T>C)
c.651+2T>C (n.651+2T>C)
c.7069+2T>C (n.7069+2T>C)
c.334+2T>C (n.334+2T>C)
n.590+2T>C
c.7249+2T>C (n.7249+2T>C)
c.7183+2T>C (n.7183+2T>C)
c.7246+2T>C (n.7246+2T>C)
c.7243+2T>C (n.7243+2T>C)
c.7189+2T>C (n.7189+2T>C)
c.7159+2T>C (n.7159+2T>C)
c.7114+2T>C (n.7114+2T>C)
c.6709+2T>C (n.6709+2T>C)
c.6067+2T>C (n.6067+2T>C)
c.3577+2T>C (n.3577+2T>C)
10g.71798580T>GCA377158554CDH23c.7054+2T>G (n.7054+2T>G)
c.987+2T>G (n.987+2T>G)
c.651+2T>G (n.651+2T>G)
c.7069+2T>G (n.7069+2T>G)
c.334+2T>G (n.334+2T>G)
n.590+2T>G
c.7249+2T>G (n.7249+2T>G)
c.7183+2T>G (n.7183+2T>G)
c.7246+2T>G (n.7246+2T>G)
c.7243+2T>G (n.7243+2T>G)
c.7189+2T>G (n.7189+2T>G)
c.7159+2T>G (n.7159+2T>G)
c.7114+2T>G (n.7114+2T>G)
c.6709+2T>G (n.6709+2T>G)
c.6067+2T>G (n.6067+2T>G)
c.3577+2T>G (n.3577+2T>G)
 dbSNP
10g.71798580T=CA1918878515CDH23c.7054+2T= (n.7054+2T=)
c.987+2T= (n.987+2T=)
c.651+2T= (n.651+2T=)
c.7069+2T= (n.7069+2T=)
c.334+2T= (n.334+2T=)
n.590+2T=
c.7249+2T= (n.7249+2T=)
c.7183+2T= (n.7183+2T=)
c.7246+2T= (n.7246+2T=)
c.7243+2T= (n.7243+2T=)
c.7189+2T= (n.7189+2T=)
c.7159+2T= (n.7159+2T=)
c.7114+2T= (n.7114+2T=)
c.6709+2T= (n.6709+2T=)
c.6067+2T= (n.6067+2T=)
c.3577+2T= (n.3577+2T=)
10g.71798583G>TCA2609588225CDH23c.7054+5G>T (n.7054+5G>T)
c.987+5G>T (n.987+5G>T)
c.651+5G>T (n.651+5G>T)
c.7069+5G>T (n.7069+5G>T)
c.334+5G>T (n.334+5G>T)
n.590+5G>T
c.7249+5G>T (n.7249+5G>T)
c.7183+5G>T (n.7183+5G>T)
c.7246+5G>T (n.7246+5G>T)
c.7243+5G>T (n.7243+5G>T)
c.7189+5G>T (n.7189+5G>T)
c.7159+5G>T (n.7159+5G>T)
c.7114+5G>T (n.7114+5G>T)
c.6709+5G>T (n.6709+5G>T)
c.6067+5G>T (n.6067+5G>T)
c.3577+5G>T (n.3577+5G>T)
 gnomAD v4
10g.71798584T>CCA5546239CDH23c.7054+6T>C (n.7054+6T>C)
c.987+6T>C (n.987+6T>C)
c.651+6T>C (n.651+6T>C)
c.7069+6T>C (n.7069+6T>C)
c.334+6T>C (n.334+6T>C)
n.590+6T>C
c.7249+6T>C (n.7249+6T>C)
c.7183+6T>C (n.7183+6T>C)
c.7246+6T>C (n.7246+6T>C)
c.7243+6T>C (n.7243+6T>C)
c.7189+6T>C (n.7189+6T>C)
c.7159+6T>C (n.7159+6T>C)
c.7114+6T>C (n.7114+6T>C)
c.6709+6T>C (n.6709+6T>C)
c.6067+6T>C (n.6067+6T>C)
c.3577+6T>C (n.3577+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798584T>GCA1918878517CDH23c.7054+6T>G (n.7054+6T>G)
c.987+6T>G (n.987+6T>G)
c.651+6T>G (n.651+6T>G)
c.7069+6T>G (n.7069+6T>G)
c.334+6T>G (n.334+6T>G)
n.590+6T>G
c.7249+6T>G (n.7249+6T>G)
c.7183+6T>G (n.7183+6T>G)
c.7246+6T>G (n.7246+6T>G)
c.7243+6T>G (n.7243+6T>G)
c.7189+6T>G (n.7189+6T>G)
c.7159+6T>G (n.7159+6T>G)
c.7114+6T>G (n.7114+6T>G)
c.6709+6T>G (n.6709+6T>G)
c.6067+6T>G (n.6067+6T>G)
c.3577+6T>G (n.3577+6T>G)
 dbSNP
10g.71798584T=CA1918878516CDH23c.7054+6T= (n.7054+6T=)
c.987+6T= (n.987+6T=)
c.651+6T= (n.651+6T=)
c.7069+6T= (n.7069+6T=)
c.334+6T= (n.334+6T=)
n.590+6T=
c.7249+6T= (n.7249+6T=)
c.7183+6T= (n.7183+6T=)
c.7246+6T= (n.7246+6T=)
c.7243+6T= (n.7243+6T=)
c.7189+6T= (n.7189+6T=)
c.7159+6T= (n.7159+6T=)
c.7114+6T= (n.7114+6T=)
c.6709+6T= (n.6709+6T=)
c.6067+6T= (n.6067+6T=)
c.3577+6T= (n.3577+6T=)
10g.71798588A>GCA2499220355CDH23c.7054+10A>G (n.7054+10A>G)
c.987+10A>G (n.987+10A>G)
c.651+10A>G (n.651+10A>G)
c.7069+10A>G (n.7069+10A>G)
c.334+10A>G (n.334+10A>G)
n.590+10A>G
c.7249+10A>G (n.7249+10A>G)
c.7183+10A>G (n.7183+10A>G)
c.7246+10A>G (n.7246+10A>G)
c.7243+10A>G (n.7243+10A>G)
c.7189+10A>G (n.7189+10A>G)
c.7159+10A>G (n.7159+10A>G)
c.7114+10A>G (n.7114+10A>G)
c.6709+10A>G (n.6709+10A>G)
c.6067+10A>G (n.6067+10A>G)
c.3577+10A>G (n.3577+10A>G)
 ClinVar dbSNP
10g.71798590A=CA1918878518CDH23c.7054+12A= (n.7054+12A=)
c.987+12A= (n.987+12A=)
c.651+12A= (n.651+12A=)
c.7069+12A= (n.7069+12A=)
c.334+12A= (n.334+12A=)
n.590+12A=
c.7249+12A= (n.7249+12A=)
c.7183+12A= (n.7183+12A=)
c.7246+12A= (n.7246+12A=)
c.7243+12A= (n.7243+12A=)
c.7189+12A= (n.7189+12A=)
c.7159+12A= (n.7159+12A=)
c.7114+12A= (n.7114+12A=)
c.6709+12A= (n.6709+12A=)
c.6067+12A= (n.6067+12A=)
c.3577+12A= (n.3577+12A=)
10g.71798590A>CCA653396089CDH23c.7054+12A>C (n.7054+12A>C)
c.987+12A>C (n.987+12A>C)
c.651+12A>C (n.651+12A>C)
c.7069+12A>C (n.7069+12A>C)
c.334+12A>C (n.334+12A>C)
n.590+12A>C
c.7249+12A>C (n.7249+12A>C)
c.7183+12A>C (n.7183+12A>C)
c.7246+12A>C (n.7246+12A>C)
c.7243+12A>C (n.7243+12A>C)
c.7189+12A>C (n.7189+12A>C)
c.7159+12A>C (n.7159+12A>C)
c.7114+12A>C (n.7114+12A>C)
c.6709+12A>C (n.6709+12A>C)
c.6067+12A>C (n.6067+12A>C)
c.3577+12A>C (n.3577+12A>C)
 COSMIC
10g.71798590A>GCA1918878519CDH23c.7054+12A>G (n.7054+12A>G)
c.987+12A>G (n.987+12A>G)
c.651+12A>G (n.651+12A>G)
c.7069+12A>G (n.7069+12A>G)
c.334+12A>G (n.334+12A>G)
n.590+12A>G
c.7249+12A>G (n.7249+12A>G)
c.7183+12A>G (n.7183+12A>G)
c.7246+12A>G (n.7246+12A>G)
c.7243+12A>G (n.7243+12A>G)
c.7189+12A>G (n.7189+12A>G)
c.7159+12A>G (n.7159+12A>G)
c.7114+12A>G (n.7114+12A>G)
c.6709+12A>G (n.6709+12A>G)
c.6067+12A>G (n.6067+12A>G)
c.3577+12A>G (n.3577+12A>G)
 dbSNP gnomAD v4
10g.71798592C>ACA2788486901CDH23c.7054+14C>A (n.7054+14C>A)
c.987+14C>A (n.987+14C>A)
c.651+14C>A (n.651+14C>A)
c.7069+14C>A (n.7069+14C>A)
c.334+14C>A (n.334+14C>A)
n.590+14C>A
c.7249+14C>A (n.7249+14C>A)
c.7183+14C>A (n.7183+14C>A)
c.7246+14C>A (n.7246+14C>A)
c.7243+14C>A (n.7243+14C>A)
c.7189+14C>A (n.7189+14C>A)
c.7159+14C>A (n.7159+14C>A)
c.7114+14C>A (n.7114+14C>A)
c.6709+14C>A (n.6709+14C>A)
c.6067+14C>A (n.6067+14C>A)
c.3577+14C>A (n.3577+14C>A)
10g.71798592C=CA1918878520CDH23c.7054+14C= (n.7054+14C=)
c.987+14C= (n.987+14C=)
c.651+14C= (n.651+14C=)
c.7069+14C= (n.7069+14C=)
c.334+14C= (n.334+14C=)
n.590+14C=
c.7249+14C= (n.7249+14C=)
c.7183+14C= (n.7183+14C=)
c.7246+14C= (n.7246+14C=)
c.7243+14C= (n.7243+14C=)
c.7189+14C= (n.7189+14C=)
c.7159+14C= (n.7159+14C=)
c.7114+14C= (n.7114+14C=)
c.6709+14C= (n.6709+14C=)
c.6067+14C= (n.6067+14C=)
c.3577+14C= (n.3577+14C=)
10g.71798592C>GCA2697558453CDH23c.7054+14C>G (n.7054+14C>G)
c.987+14C>G (n.987+14C>G)
c.651+14C>G (n.651+14C>G)
c.7069+14C>G (n.7069+14C>G)
c.334+14C>G (n.334+14C>G)
n.590+14C>G
c.7249+14C>G (n.7249+14C>G)
c.7183+14C>G (n.7183+14C>G)
c.7246+14C>G (n.7246+14C>G)
c.7243+14C>G (n.7243+14C>G)
c.7189+14C>G (n.7189+14C>G)
c.7159+14C>G (n.7159+14C>G)
c.7114+14C>G (n.7114+14C>G)
c.6709+14C>G (n.6709+14C>G)
c.6067+14C>G (n.6067+14C>G)
c.3577+14C>G (n.3577+14C>G)
 ClinVar
10g.71798592C>TCA594316294CDH23c.7054+14C>T (n.7054+14C>T)
c.987+14C>T (n.987+14C>T)
c.651+14C>T (n.651+14C>T)
c.7069+14C>T (n.7069+14C>T)
c.334+14C>T (n.334+14C>T)
n.590+14C>T
c.7249+14C>T (n.7249+14C>T)
c.7183+14C>T (n.7183+14C>T)
c.7246+14C>T (n.7246+14C>T)
c.7243+14C>T (n.7243+14C>T)
c.7189+14C>T (n.7189+14C>T)
c.7159+14C>T (n.7159+14C>T)
c.7114+14C>T (n.7114+14C>T)
c.6709+14C>T (n.6709+14C>T)
c.6067+14C>T (n.6067+14C>T)
c.3577+14C>T (n.3577+14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71798593T>CCA2574455570CDH23c.7054+15T>C (n.7054+15T>C)
c.987+15T>C (n.987+15T>C)
c.651+15T>C (n.651+15T>C)
c.7069+15T>C (n.7069+15T>C)
c.334+15T>C (n.334+15T>C)
n.590+15T>C
c.7249+15T>C (n.7249+15T>C)
c.7183+15T>C (n.7183+15T>C)
c.7246+15T>C (n.7246+15T>C)
c.7243+15T>C (n.7243+15T>C)
c.7189+15T>C (n.7189+15T>C)
c.7159+15T>C (n.7159+15T>C)
c.7114+15T>C (n.7114+15T>C)
c.6709+15T>C (n.6709+15T>C)
c.6067+15T>C (n.6067+15T>C)
c.3577+15T>C (n.3577+15T>C)
10g.71798594G>ACA2722286560CDH23c.7054+16G>A (n.7054+16G>A)
c.987+16G>A (n.987+16G>A)
c.651+16G>A (n.651+16G>A)
c.7069+16G>A (n.7069+16G>A)
c.334+16G>A (n.334+16G>A)
n.590+16G>A
c.7249+16G>A (n.7249+16G>A)
c.7183+16G>A (n.7183+16G>A)
c.7246+16G>A (n.7246+16G>A)
c.7243+16G>A (n.7243+16G>A)
c.7189+16G>A (n.7189+16G>A)
c.7159+16G>A (n.7159+16G>A)
c.7114+16G>A (n.7114+16G>A)
c.6709+16G>A (n.6709+16G>A)
c.6067+16G>A (n.6067+16G>A)
c.3577+16G>A (n.3577+16G>A)
 dbSNP
10g.71798594G>TCA2609588232CDH23c.7054+16G>T (n.7054+16G>T)
c.987+16G>T (n.987+16G>T)
c.651+16G>T (n.651+16G>T)
c.7069+16G>T (n.7069+16G>T)
c.334+16G>T (n.334+16G>T)
n.590+16G>T
c.7249+16G>T (n.7249+16G>T)
c.7183+16G>T (n.7183+16G>T)
c.7246+16G>T (n.7246+16G>T)
c.7243+16G>T (n.7243+16G>T)
c.7189+16G>T (n.7189+16G>T)
c.7159+16G>T (n.7159+16G>T)
c.7114+16G>T (n.7114+16G>T)
c.6709+16G>T (n.6709+16G>T)
c.6067+16G>T (n.6067+16G>T)
c.3577+16G>T (n.3577+16G>T)
 gnomAD v4
10g.71798595T>CCA2609588237CDH23c.7054+17T>C (n.7054+17T>C)
c.987+17T>C (n.987+17T>C)
c.651+17T>C (n.651+17T>C)
c.7069+17T>C (n.7069+17T>C)
c.334+17T>C (n.334+17T>C)
n.590+17T>C
c.7249+17T>C (n.7249+17T>C)
c.7183+17T>C (n.7183+17T>C)
c.7246+17T>C (n.7246+17T>C)
c.7243+17T>C (n.7243+17T>C)
c.7189+17T>C (n.7189+17T>C)
c.7159+17T>C (n.7159+17T>C)
c.7114+17T>C (n.7114+17T>C)
c.6709+17T>C (n.6709+17T>C)
c.6067+17T>C (n.6067+17T>C)
c.3577+17T>C (n.3577+17T>C)
 gnomAD v4
10g.71798595T>GCA5546240CDH23c.7054+17T>G (n.7054+17T>G)
c.987+17T>G (n.987+17T>G)
c.651+17T>G (n.651+17T>G)
c.7069+17T>G (n.7069+17T>G)
c.334+17T>G (n.334+17T>G)
n.590+17T>G
c.7249+17T>G (n.7249+17T>G)
c.7183+17T>G (n.7183+17T>G)
c.7246+17T>G (n.7246+17T>G)
c.7243+17T>G (n.7243+17T>G)
c.7189+17T>G (n.7189+17T>G)
c.7159+17T>G (n.7159+17T>G)
c.7114+17T>G (n.7114+17T>G)
c.6709+17T>G (n.6709+17T>G)
c.6067+17T>G (n.6067+17T>G)
c.3577+17T>G (n.3577+17T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71798595T=CA1918878521CDH23c.7054+17T= (n.7054+17T=)
c.987+17T= (n.987+17T=)
c.651+17T= (n.651+17T=)
c.7069+17T= (n.7069+17T=)
c.334+17T= (n.334+17T=)
n.590+17T=
c.7249+17T= (n.7249+17T=)
c.7183+17T= (n.7183+17T=)
c.7246+17T= (n.7246+17T=)
c.7243+17T= (n.7243+17T=)
c.7189+17T= (n.7189+17T=)
c.7159+17T= (n.7159+17T=)
c.7114+17T= (n.7114+17T=)
c.6709+17T= (n.6709+17T=)
c.6067+17T= (n.6067+17T=)
c.3577+17T= (n.3577+17T=)
10g.71798596C>ACA2609588241CDH23c.7054+18C>A (n.7054+18C>A)
c.987+18C>A (n.987+18C>A)
c.651+18C>A (n.651+18C>A)
c.7069+18C>A (n.7069+18C>A)
c.334+18C>A (n.334+18C>A)
n.590+18C>A
c.7249+18C>A (n.7249+18C>A)
c.7183+18C>A (n.7183+18C>A)
c.7246+18C>A (n.7246+18C>A)
c.7243+18C>A (n.7243+18C>A)
c.7189+18C>A (n.7189+18C>A)
c.7159+18C>A (n.7159+18C>A)
c.7114+18C>A (n.7114+18C>A)
c.6709+18C>A (n.6709+18C>A)
c.6067+18C>A (n.6067+18C>A)
c.3577+18C>A (n.3577+18C>A)
 gnomAD v4
10g.71798596C>GCA2722286575CDH23c.7054+18C>G (n.7054+18C>G)
c.987+18C>G (n.987+18C>G)
c.651+18C>G (n.651+18C>G)
c.7069+18C>G (n.7069+18C>G)
c.334+18C>G (n.334+18C>G)
n.590+18C>G
c.7249+18C>G (n.7249+18C>G)
c.7183+18C>G (n.7183+18C>G)
c.7246+18C>G (n.7246+18C>G)
c.7243+18C>G (n.7243+18C>G)
c.7189+18C>G (n.7189+18C>G)
c.7159+18C>G (n.7159+18C>G)
c.7114+18C>G (n.7114+18C>G)
c.6709+18C>G (n.6709+18C>G)
c.6067+18C>G (n.6067+18C>G)
c.3577+18C>G (n.3577+18C>G)
 dbSNP

Number of alleles fetched