Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71793239_71793272delinsCCACA2695199526CDH23c.6311_6344delinsCCA (p.Leu2104ProfsTer29)
c.6326_6359delinsCCA (p.Leu2109ProfsTer29)
c.6506_6539delinsCCA (p.Leu2169ProfsTer29)
c.6440_6473delinsCCA (p.Leu2147ProfsTer29)
c.6503_6536delinsCCA (p.Leu2168ProfsTer29)
c.6500_6533delinsCCA (p.Leu2167ProfsTer29)
c.6446_6479delinsCCA (p.Leu2149ProfsTer29)
c.6506_6539delinsCCA (p.Leu2169ProfsTer20)
c.6371_6404delinsCCA (p.Leu2124ProfsTer29)
c.5966_5999delinsCCA (p.Leu1989ProfsTer29)
c.5324_5357delinsCCA (p.Leu1775ProfsTer29)
c.2834_2867delinsCCA (p.Leu945ProfsTer29)
n.6749_6782delinsCCA
 ClinVar
10g.71793245A>CCA377154268CDH23c.6317A>C (p.Tyr2106Ser)
c.6332A>C (p.Tyr2111Ser)
c.6512A>C (p.Tyr2171Ser)
c.6446A>C (p.Tyr2149Ser)
c.6509A>C (p.Tyr2170Ser)
c.6506A>C (p.Tyr2169Ser)
c.6452A>C (p.Tyr2151Ser)
c.6377A>C (p.Tyr2126Ser)
c.5972A>C (p.Tyr1991Ser)
c.5330A>C (p.Tyr1777Ser)
c.2840A>C (p.Tyr947Ser)
n.6755A>C
10g.71793245A>GCA377154270CDH23c.6317A>G (p.Tyr2106Cys)
c.6332A>G (p.Tyr2111Cys)
c.6512A>G (p.Tyr2171Cys)
c.6446A>G (p.Tyr2149Cys)
c.6509A>G (p.Tyr2170Cys)
c.6506A>G (p.Tyr2169Cys)
c.6452A>G (p.Tyr2151Cys)
c.6377A>G (p.Tyr2126Cys)
c.5972A>G (p.Tyr1991Cys)
c.5330A>G (p.Tyr1777Cys)
c.2840A>G (p.Tyr947Cys)
n.6755A>G
10g.71793245A>TCA377154273CDH23c.6317A>T (p.Tyr2106Phe)
c.6332A>T (p.Tyr2111Phe)
c.6512A>T (p.Tyr2171Phe)
c.6446A>T (p.Tyr2149Phe)
c.6509A>T (p.Tyr2170Phe)
c.6506A>T (p.Tyr2169Phe)
c.6452A>T (p.Tyr2151Phe)
c.6377A>T (p.Tyr2126Phe)
c.5972A>T (p.Tyr1991Phe)
c.5330A>T (p.Tyr1777Phe)
c.2840A>T (p.Tyr947Phe)
n.6755A>T
10g.71793246C>ACA377154276CDH23c.6318C>A (p.Tyr2106Ter)
c.6333C>A (p.Tyr2111Ter)
c.6513C>A (p.Tyr2171Ter)
c.6447C>A (p.Tyr2149Ter)
c.6510C>A (p.Tyr2170Ter)
c.6507C>A (p.Tyr2169Ter)
c.6453C>A (p.Tyr2151Ter)
c.6378C>A (p.Tyr2126Ter)
c.5973C>A (p.Tyr1991Ter)
c.5331C>A (p.Tyr1777Ter)
c.2841C>A (p.Tyr947Ter)
n.6756C>A
10g.71793246C>GCA377154277CDH23c.6318C>G (p.Tyr2106Ter)
c.6333C>G (p.Tyr2111Ter)
c.6513C>G (p.Tyr2171Ter)
c.6447C>G (p.Tyr2149Ter)
c.6510C>G (p.Tyr2170Ter)
c.6507C>G (p.Tyr2169Ter)
c.6453C>G (p.Tyr2151Ter)
c.6378C>G (p.Tyr2126Ter)
c.5973C>G (p.Tyr1991Ter)
c.5331C>G (p.Tyr1777Ter)
c.2841C>G (p.Tyr947Ter)
n.6756C>G
 dbSNP
10g.71793247C>ACA2499220348CDH23c.6319C>A (p.Arg2107=)
c.6334C>A (p.Arg2112=)
c.6514C>A (p.Arg2172=)
c.6448C>A (p.Arg2150=)
c.6511C>A (p.Arg2171=)
c.6508C>A (p.Arg2170=)
c.6454C>A (p.Arg2152=)
c.6379C>A (p.Arg2127=)
c.5974C>A (p.Arg1992=)
c.5332C>A (p.Arg1778=)
c.2842C>A (p.Arg948=)
n.6757C>A
 ClinVar dbSNP
10g.71793247C=CA1918874169CDH23c.6319C= (p.Arg2107=)
c.6334C= (p.Arg2112=)
c.6514C= (p.Arg2172=)
c.6448C= (p.Arg2150=)
c.6511C= (p.Arg2171=)
c.6508C= (p.Arg2170=)
c.6454C= (p.Arg2152=)
c.6379C= (p.Arg2127=)
c.5974C= (p.Arg1992=)
c.5332C= (p.Arg1778=)
c.2842C= (p.Arg948=)
n.6757C=
10g.71793247C>GCA377154278CDH23c.6319C>G (p.Arg2107Gly)
c.6334C>G (p.Arg2112Gly)
c.6514C>G (p.Arg2172Gly)
c.6448C>G (p.Arg2150Gly)
c.6511C>G (p.Arg2171Gly)
c.6508C>G (p.Arg2170Gly)
c.6454C>G (p.Arg2152Gly)
c.6379C>G (p.Arg2127Gly)
c.5974C>G (p.Arg1992Gly)
c.5332C>G (p.Arg1778Gly)
c.2842C>G (p.Arg948Gly)
n.6757C>G
 dbSNP gnomAD v4
10g.71793247C>TCA377154279CDH23c.6319C>T (p.Arg2107Ter)
c.6334C>T (p.Arg2112Ter)
c.6514C>T (p.Arg2172Ter)
c.6448C>T (p.Arg2150Ter)
c.6511C>T (p.Arg2171Ter)
c.6508C>T (p.Arg2170Ter)
c.6454C>T (p.Arg2152Ter)
c.6379C>T (p.Arg2127Ter)
c.5974C>T (p.Arg1992Ter)
c.5332C>T (p.Arg1778Ter)
c.2842C>T (p.Arg948Ter)
n.6757C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.71793248G>ACA5546054CDH23c.6320G>A (p.Arg2107Gln)
c.6335G>A (p.Arg2112Gln)
c.6515G>A (p.Arg2172Gln)
c.6449G>A (p.Arg2150Gln)
c.6512G>A (p.Arg2171Gln)
c.6509G>A (p.Arg2170Gln)
c.6455G>A (p.Arg2152Gln)
c.6380G>A (p.Arg2127Gln)
c.5975G>A (p.Arg1992Gln)
c.5333G>A (p.Arg1778Gln)
c.2843G>A (p.Arg948Gln)
n.6758G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793248G>CCA377154282CDH23c.6320G>C (p.Arg2107Pro)
c.6335G>C (p.Arg2112Pro)
c.6515G>C (p.Arg2172Pro)
c.6449G>C (p.Arg2150Pro)
c.6512G>C (p.Arg2171Pro)
c.6509G>C (p.Arg2170Pro)
c.6455G>C (p.Arg2152Pro)
c.6380G>C (p.Arg2127Pro)
c.5975G>C (p.Arg1992Pro)
c.5333G>C (p.Arg1778Pro)
c.2843G>C (p.Arg948Pro)
n.6758G>C
 dbSNP gnomAD v4
10g.71793248G=CA1918874173CDH23c.6320G= (p.Arg2107=)
c.6335G= (p.Arg2112=)
c.6515G= (p.Arg2172=)
c.6449G= (p.Arg2150=)
c.6512G= (p.Arg2171=)
c.6509G= (p.Arg2170=)
c.6455G= (p.Arg2152=)
c.6380G= (p.Arg2127=)
c.5975G= (p.Arg1992=)
c.5333G= (p.Arg1778=)
c.2843G= (p.Arg948=)
n.6758G=
10g.71793248G>TCA377154284CDH23c.6320G>T (p.Arg2107Leu)
c.6335G>T (p.Arg2112Leu)
c.6515G>T (p.Arg2172Leu)
c.6449G>T (p.Arg2150Leu)
c.6512G>T (p.Arg2171Leu)
c.6509G>T (p.Arg2170Leu)
c.6455G>T (p.Arg2152Leu)
c.6380G>T (p.Arg2127Leu)
c.5975G>T (p.Arg1992Leu)
c.5333G>T (p.Arg1778Leu)
c.2843G>T (p.Arg948Leu)
n.6758G>T
 ClinVar dbSNP gnomAD v4
10g.71793250A=CA1918874177CDH23c.6322A= (p.Ile2108=)
c.6337A= (p.Ile2113=)
c.6517A= (p.Ile2173=)
c.6451A= (p.Ile2151=)
c.6514A= (p.Ile2172=)
c.6511A= (p.Ile2171=)
c.6457A= (p.Ile2153=)
c.6382A= (p.Ile2128=)
c.5977A= (p.Ile1993=)
c.5335A= (p.Ile1779=)
c.2845A= (p.Ile949=)
n.6760A=
10g.71793250A>CCA377154287CDH23c.6322A>C (p.Ile2108Leu)
c.6337A>C (p.Ile2113Leu)
c.6517A>C (p.Ile2173Leu)
c.6451A>C (p.Ile2151Leu)
c.6514A>C (p.Ile2172Leu)
c.6511A>C (p.Ile2171Leu)
c.6457A>C (p.Ile2153Leu)
c.6382A>C (p.Ile2128Leu)
c.5977A>C (p.Ile1993Leu)
c.5335A>C (p.Ile1779Leu)
c.2845A>C (p.Ile949Leu)
n.6760A>C
10g.71793250A>GCA377154294CDH23c.6322A>G (p.Ile2108Val)
c.6337A>G (p.Ile2113Val)
c.6517A>G (p.Ile2173Val)
c.6451A>G (p.Ile2151Val)
c.6514A>G (p.Ile2172Val)
c.6511A>G (p.Ile2171Val)
c.6457A>G (p.Ile2153Val)
c.6382A>G (p.Ile2128Val)
c.5977A>G (p.Ile1993Val)
c.5335A>G (p.Ile1779Val)
c.2845A>G (p.Ile949Val)
n.6760A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793250A>TCA377154295CDH23c.6322A>T (p.Ile2108Leu)
c.6337A>T (p.Ile2113Leu)
c.6517A>T (p.Ile2173Leu)
c.6451A>T (p.Ile2151Leu)
c.6514A>T (p.Ile2172Leu)
c.6511A>T (p.Ile2171Leu)
c.6457A>T (p.Ile2153Leu)
c.6382A>T (p.Ile2128Leu)
c.5977A>T (p.Ile1993Leu)
c.5335A>T (p.Ile1779Leu)
c.2845A>T (p.Ile949Leu)
n.6760A>T
10g.71793251T>ACA377154296CDH23c.6323T>A (p.Ile2108Lys)
c.6338T>A (p.Ile2113Lys)
c.6518T>A (p.Ile2173Lys)
c.6452T>A (p.Ile2151Lys)
c.6515T>A (p.Ile2172Lys)
c.6512T>A (p.Ile2171Lys)
c.6458T>A (p.Ile2153Lys)
c.6383T>A (p.Ile2128Lys)
c.5978T>A (p.Ile1993Lys)
c.5336T>A (p.Ile1779Lys)
c.2846T>A (p.Ile949Lys)
n.6761T>A
 dbSNP
10g.71793251T>CCA377154298CDH23c.6323T>C (p.Ile2108Thr)
c.6338T>C (p.Ile2113Thr)
c.6518T>C (p.Ile2173Thr)
c.6452T>C (p.Ile2151Thr)
c.6515T>C (p.Ile2172Thr)
c.6512T>C (p.Ile2171Thr)
c.6458T>C (p.Ile2153Thr)
c.6383T>C (p.Ile2128Thr)
c.5978T>C (p.Ile1993Thr)
c.5336T>C (p.Ile1779Thr)
c.2846T>C (p.Ile949Thr)
n.6761T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793251T>GCA377154297CDH23c.6323T>G (p.Ile2108Arg)
c.6338T>G (p.Ile2113Arg)
c.6518T>G (p.Ile2173Arg)
c.6452T>G (p.Ile2151Arg)
c.6515T>G (p.Ile2172Arg)
c.6512T>G (p.Ile2171Arg)
c.6458T>G (p.Ile2153Arg)
c.6383T>G (p.Ile2128Arg)
c.5978T>G (p.Ile1993Arg)
c.5336T>G (p.Ile1779Arg)
c.2846T>G (p.Ile949Arg)
n.6761T>G
10g.71793251T=CA1918874179CDH23c.6323T= (p.Ile2108=)
c.6338T= (p.Ile2113=)
c.6518T= (p.Ile2173=)
c.6452T= (p.Ile2151=)
c.6515T= (p.Ile2172=)
c.6512T= (p.Ile2171=)
c.6458T= (p.Ile2153=)
c.6383T= (p.Ile2128=)
c.5978T= (p.Ile1993=)
c.5336T= (p.Ile1779=)
c.2846T= (p.Ile949=)
n.6761T=
10g.71793252A>GCA377154300CDH23c.6324A>G (p.Ile2108Met)
c.6339A>G (p.Ile2113Met)
c.6519A>G (p.Ile2173Met)
c.6453A>G (p.Ile2151Met)
c.6516A>G (p.Ile2172Met)
c.6513A>G (p.Ile2171Met)
c.6459A>G (p.Ile2153Met)
c.6384A>G (p.Ile2128Met)
c.5979A>G (p.Ile1993Met)
c.5337A>G (p.Ile1779Met)
c.2847A>G (p.Ile949Met)
n.6762A>G
10g.71793253G>ACA377154309CDH23c.6325G>A (p.Glu2109Lys)
c.6340G>A (p.Glu2114Lys)
c.6520G>A (p.Glu2174Lys)
c.6454G>A (p.Glu2152Lys)
c.6517G>A (p.Glu2173Lys)
c.6514G>A (p.Glu2172Lys)
c.6460G>A (p.Glu2154Lys)
c.6385G>A (p.Glu2129Lys)
c.5980G>A (p.Glu1994Lys)
c.5338G>A (p.Glu1780Lys)
c.2848G>A (p.Glu950Lys)
n.6763G>A
10g.71793253G>CCA377154312CDH23c.6325G>C (p.Glu2109Gln)
c.6340G>C (p.Glu2114Gln)
c.6520G>C (p.Glu2174Gln)
c.6454G>C (p.Glu2152Gln)
c.6517G>C (p.Glu2173Gln)
c.6514G>C (p.Glu2172Gln)
c.6460G>C (p.Glu2154Gln)
c.6385G>C (p.Glu2129Gln)
c.5980G>C (p.Glu1994Gln)
c.5338G>C (p.Glu1780Gln)
c.2848G>C (p.Glu950Gln)
n.6763G>C
10g.71793253G>TCA377154315CDH23c.6325G>T (p.Glu2109Ter)
c.6340G>T (p.Glu2114Ter)
c.6520G>T (p.Glu2174Ter)
c.6454G>T (p.Glu2152Ter)
c.6517G>T (p.Glu2173Ter)
c.6514G>T (p.Glu2172Ter)
c.6460G>T (p.Glu2154Ter)
c.6385G>T (p.Glu2129Ter)
c.5980G>T (p.Glu1994Ter)
c.5338G>T (p.Glu1780Ter)
c.2848G>T (p.Glu950Ter)
n.6763G>T
10g.71793254A>CCA377154317CDH23c.6326A>C (p.Glu2109Ala)
c.6341A>C (p.Glu2114Ala)
c.6521A>C (p.Glu2174Ala)
c.6455A>C (p.Glu2152Ala)
c.6518A>C (p.Glu2173Ala)
c.6515A>C (p.Glu2172Ala)
c.6461A>C (p.Glu2154Ala)
c.6386A>C (p.Glu2129Ala)
c.5981A>C (p.Glu1994Ala)
c.5339A>C (p.Glu1780Ala)
c.2849A>C (p.Glu950Ala)
n.6764A>C
10g.71793254A>GCA377154319CDH23c.6326A>G (p.Glu2109Gly)
c.6341A>G (p.Glu2114Gly)
c.6521A>G (p.Glu2174Gly)
c.6455A>G (p.Glu2152Gly)
c.6518A>G (p.Glu2173Gly)
c.6515A>G (p.Glu2172Gly)
c.6461A>G (p.Glu2154Gly)
c.6386A>G (p.Glu2129Gly)
c.5981A>G (p.Glu1994Gly)
c.5339A>G (p.Glu1780Gly)
c.2849A>G (p.Glu950Gly)
n.6764A>G
 gnomAD v4
10g.71793254A>TCA377154321CDH23c.6326A>T (p.Glu2109Val)
c.6341A>T (p.Glu2114Val)
c.6521A>T (p.Glu2174Val)
c.6455A>T (p.Glu2152Val)
c.6518A>T (p.Glu2173Val)
c.6515A>T (p.Glu2172Val)
c.6461A>T (p.Glu2154Val)
c.6386A>T (p.Glu2129Val)
c.5981A>T (p.Glu1994Val)
c.5339A>T (p.Glu1780Val)
c.2849A>T (p.Glu950Val)
n.6764A>T
10g.71793255A>CCA377154323CDH23c.6327A>C (p.Glu2109Asp)
c.6342A>C (p.Glu2114Asp)
c.6522A>C (p.Glu2174Asp)
c.6456A>C (p.Glu2152Asp)
c.6519A>C (p.Glu2173Asp)
c.6516A>C (p.Glu2172Asp)
c.6462A>C (p.Glu2154Asp)
c.6387A>C (p.Glu2129Asp)
c.5982A>C (p.Glu1994Asp)
c.5340A>C (p.Glu1780Asp)
c.2850A>C (p.Glu950Asp)
n.6765A>C
10g.71793255A>TCA377154327CDH23c.6327A>T (p.Glu2109Asp)
c.6342A>T (p.Glu2114Asp)
c.6522A>T (p.Glu2174Asp)
c.6456A>T (p.Glu2152Asp)
c.6519A>T (p.Glu2173Asp)
c.6516A>T (p.Glu2172Asp)
c.6462A>T (p.Glu2154Asp)
c.6387A>T (p.Glu2129Asp)
c.5982A>T (p.Glu1994Asp)
c.5340A>T (p.Glu1780Asp)
c.2850A>T (p.Glu950Asp)
n.6765A>T
10g.71793256G>ACA5546055CDH23c.6328G>A (p.Ala2110Thr)
c.6343G>A (p.Ala2115Thr)
c.6523G>A (p.Ala2175Thr)
c.6457G>A (p.Ala2153Thr)
c.6520G>A (p.Ala2174Thr)
c.6517G>A (p.Ala2173Thr)
c.6463G>A (p.Ala2155Thr)
c.6388G>A (p.Ala2130Thr)
c.5983G>A (p.Ala1995Thr)
c.5341G>A (p.Ala1781Thr)
c.2851G>A (p.Ala951Thr)
n.6766G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793256G>CCA377154334CDH23c.6328G>C (p.Ala2110Pro)
c.6343G>C (p.Ala2115Pro)
c.6523G>C (p.Ala2175Pro)
c.6457G>C (p.Ala2153Pro)
c.6520G>C (p.Ala2174Pro)
c.6517G>C (p.Ala2173Pro)
c.6463G>C (p.Ala2155Pro)
c.6388G>C (p.Ala2130Pro)
c.5983G>C (p.Ala1995Pro)
c.5341G>C (p.Ala1781Pro)
c.2851G>C (p.Ala951Pro)
n.6766G>C
 dbSNP gnomAD v4
10g.71793256G=CA1918874180CDH23c.6328G= (p.Ala2110=)
c.6343G= (p.Ala2115=)
c.6523G= (p.Ala2175=)
c.6457G= (p.Ala2153=)
c.6520G= (p.Ala2174=)
c.6517G= (p.Ala2173=)
c.6463G= (p.Ala2155=)
c.6388G= (p.Ala2130=)
c.5983G= (p.Ala1995=)
c.5341G= (p.Ala1781=)
c.2851G= (p.Ala951=)
n.6766G=
10g.71793256G>TCA377154330CDH23c.6328G>T (p.Ala2110Ser)
c.6343G>T (p.Ala2115Ser)
c.6523G>T (p.Ala2175Ser)
c.6457G>T (p.Ala2153Ser)
c.6520G>T (p.Ala2174Ser)
c.6517G>T (p.Ala2173Ser)
c.6463G>T (p.Ala2155Ser)
c.6388G>T (p.Ala2130Ser)
c.5983G>T (p.Ala1995Ser)
c.5341G>T (p.Ala1781Ser)
c.2851G>T (p.Ala951Ser)
n.6766G>T
10g.71793257C>ACA377154336CDH23c.6329C>A (p.Ala2110Asp)
c.6344C>A (p.Ala2115Asp)
c.6524C>A (p.Ala2175Asp)
c.6458C>A (p.Ala2153Asp)
c.6521C>A (p.Ala2174Asp)
c.6518C>A (p.Ala2173Asp)
c.6464C>A (p.Ala2155Asp)
c.6389C>A (p.Ala2130Asp)
c.5984C>A (p.Ala1995Asp)
c.5342C>A (p.Ala1781Asp)
c.2852C>A (p.Ala951Asp)
n.6767C>A
10g.71793257C=CA1918874182CDH23c.6329C= (p.Ala2110=)
c.6344C= (p.Ala2115=)
c.6524C= (p.Ala2175=)
c.6458C= (p.Ala2153=)
c.6521C= (p.Ala2174=)
c.6518C= (p.Ala2173=)
c.6464C= (p.Ala2155=)
c.6389C= (p.Ala2130=)
c.5984C= (p.Ala1995=)
c.5342C= (p.Ala1781=)
c.2852C= (p.Ala951=)
n.6767C=
10g.71793257C>GCA377154338CDH23c.6329C>G (p.Ala2110Gly)
c.6344C>G (p.Ala2115Gly)
c.6524C>G (p.Ala2175Gly)
c.6458C>G (p.Ala2153Gly)
c.6521C>G (p.Ala2174Gly)
c.6518C>G (p.Ala2173Gly)
c.6464C>G (p.Ala2155Gly)
c.6389C>G (p.Ala2130Gly)
c.5984C>G (p.Ala1995Gly)
c.5342C>G (p.Ala1781Gly)
c.2852C>G (p.Ala951Gly)
n.6767C>G
10g.71793257C>TCA137531CDH23c.6329C>T (p.Ala2110Val)
c.6344C>T (p.Ala2115Val)
c.6524C>T (p.Ala2175Val)
c.6458C>T (p.Ala2153Val)
c.6521C>T (p.Ala2174Val)
c.6518C>T (p.Ala2173Val)
c.6464C>T (p.Ala2155Val)
c.6389C>T (p.Ala2130Val)
c.5984C>T (p.Ala1995Val)
c.5342C>T (p.Ala1781Val)
c.2852C>T (p.Ala951Val)
n.6767C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793258T>GCA209465999CDH23c.6330T>G (p.Ala2110=)
c.6345T>G (p.Ala2115=)
c.6525T>G (p.Ala2175=)
c.6459T>G (p.Ala2153=)
c.6522T>G (p.Ala2174=)
c.6519T>G (p.Ala2173=)
c.6465T>G (p.Ala2155=)
c.6390T>G (p.Ala2130=)
c.5985T>G (p.Ala1995=)
c.5343T>G (p.Ala1781=)
c.2853T>G (p.Ala951=)
n.6768T>G
 dbSNP gnomAD v3 gnomAD v4
10g.71793258T=CA1918874184CDH23c.6330T= (p.Ala2110=)
c.6345T= (p.Ala2115=)
c.6525T= (p.Ala2175=)
c.6459T= (p.Ala2153=)
c.6522T= (p.Ala2174=)
c.6519T= (p.Ala2173=)
c.6465T= (p.Ala2155=)
c.6390T= (p.Ala2130=)
c.5985T= (p.Ala1995=)
c.5343T= (p.Ala1781=)
c.2853T= (p.Ala951=)
n.6768T=
10g.71793259G>ACA377154348CDH23c.6331G>A (p.Gly2111Arg)
c.6346G>A (p.Gly2116Arg)
c.6526G>A (p.Gly2176Arg)
c.6460G>A (p.Gly2154Arg)
c.6523G>A (p.Gly2175Arg)
c.6520G>A (p.Gly2174Arg)
c.6466G>A (p.Gly2156Arg)
c.6391G>A (p.Gly2131Arg)
c.5986G>A (p.Gly1996Arg)
c.5344G>A (p.Gly1782Arg)
c.2854G>A (p.Gly952Arg)
n.6769G>A
 dbSNP
10g.71793259G>CCA377154352CDH23c.6331G>C (p.Gly2111Arg)
c.6346G>C (p.Gly2116Arg)
c.6526G>C (p.Gly2176Arg)
c.6460G>C (p.Gly2154Arg)
c.6523G>C (p.Gly2175Arg)
c.6520G>C (p.Gly2174Arg)
c.6466G>C (p.Gly2156Arg)
c.6391G>C (p.Gly2131Arg)
c.5986G>C (p.Gly1996Arg)
c.5344G>C (p.Gly1782Arg)
c.2854G>C (p.Gly952Arg)
n.6769G>C
 dbSNP
10g.71793259G>TCA377154357CDH23c.6331G>T (p.Gly2111Trp)
c.6346G>T (p.Gly2116Trp)
c.6526G>T (p.Gly2176Trp)
c.6460G>T (p.Gly2154Trp)
c.6523G>T (p.Gly2175Trp)
c.6520G>T (p.Gly2174Trp)
c.6466G>T (p.Gly2156Trp)
c.6391G>T (p.Gly2131Trp)
c.5986G>T (p.Gly1996Trp)
c.5344G>T (p.Gly1782Trp)
c.2854G>T (p.Gly952Trp)
n.6769G>T
10g.71793262delCA2609580382CDH23c.6334del (p.Ala2112LeufsTer?)
c.6349del (p.Ala2117LeufsTer?)
c.6529del (p.Ala2177LeufsTer?)
c.6463del (p.Ala2155LeufsTer?)
c.6526del (p.Ala2176LeufsTer?)
c.6523del (p.Ala2175LeufsTer?)
c.6469del (p.Ala2157LeufsTer?)
c.6529del (p.Ala2177LeufsTer22)
c.6394del (p.Ala2132LeufsTer?)
c.5989del (p.Ala1997LeufsTer?)
c.5347del (p.Ala1783LeufsTer?)
c.2857del (p.Ala953LeufsTer?)
n.6772del
 gnomAD v4
10g.71793260G>ACA377154360CDH23c.6332G>A (p.Gly2111Glu)
c.6347G>A (p.Gly2116Glu)
c.6527G>A (p.Gly2176Glu)
c.6461G>A (p.Gly2154Glu)
c.6524G>A (p.Gly2175Glu)
c.6521G>A (p.Gly2174Glu)
c.6467G>A (p.Gly2156Glu)
c.6392G>A (p.Gly2131Glu)
c.5987G>A (p.Gly1996Glu)
c.5345G>A (p.Gly1782Glu)
c.2855G>A (p.Gly952Glu)
n.6770G>A
 dbSNP gnomAD v4
10g.71793260G>CCA377154362CDH23c.6332G>C (p.Gly2111Ala)
c.6347G>C (p.Gly2116Ala)
c.6527G>C (p.Gly2176Ala)
c.6461G>C (p.Gly2154Ala)
c.6524G>C (p.Gly2175Ala)
c.6521G>C (p.Gly2174Ala)
c.6467G>C (p.Gly2156Ala)
c.6392G>C (p.Gly2131Ala)
c.5987G>C (p.Gly1996Ala)
c.5345G>C (p.Gly1782Ala)
c.2855G>C (p.Gly952Ala)
n.6770G>C
10g.71793260G>TCA377154363CDH23c.6332G>T (p.Gly2111Val)
c.6347G>T (p.Gly2116Val)
c.6527G>T (p.Gly2176Val)
c.6461G>T (p.Gly2154Val)
c.6524G>T (p.Gly2175Val)
c.6521G>T (p.Gly2174Val)
c.6467G>T (p.Gly2156Val)
c.6392G>T (p.Gly2131Val)
c.5987G>T (p.Gly1996Val)
c.5345G>T (p.Gly1782Val)
c.2855G>T (p.Gly952Val)
n.6770G>T
10g.71793261G>ACA5546056CDH23c.6333G>A (p.Gly2111=)
c.6348G>A (p.Gly2116=)
c.6528G>A (p.Gly2176=)
c.6462G>A (p.Gly2154=)
c.6525G>A (p.Gly2175=)
c.6522G>A (p.Gly2174=)
c.6468G>A (p.Gly2156=)
c.6393G>A (p.Gly2131=)
c.5988G>A (p.Gly1996=)
c.5346G>A (p.Gly1782=)
c.2856G>A (p.Gly952=)
n.6771G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793261G=CA1918874186CDH23c.6333G= (p.Gly2111=)
c.6348G= (p.Gly2116=)
c.6528G= (p.Gly2176=)
c.6462G= (p.Gly2154=)
c.6525G= (p.Gly2175=)
c.6522G= (p.Gly2174=)
c.6468G= (p.Gly2156=)
c.6393G= (p.Gly2131=)
c.5988G= (p.Gly1996=)
c.5346G= (p.Gly1782=)
c.2856G= (p.Gly952=)
n.6771G=

Number of alleles fetched