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.71793271C>ACA377154440CDH23c.6343C>A (p.Arg2115Ser)
c.6358C>A (p.Arg2120Ser)
c.6538C>A (p.Arg2180Ser)
c.6472C>A (p.Arg2158Ser)
c.6535C>A (p.Arg2179Ser)
c.6532C>A (p.Arg2178Ser)
c.6478C>A (p.Arg2160Ser)
c.6403C>A (p.Arg2135Ser)
c.5998C>A (p.Arg2000Ser)
c.5356C>A (p.Arg1786Ser)
c.2866C>A (p.Arg956Ser)
n.6781C>A
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71793271C=CA1918874200CDH23c.6343C= (p.Arg2115=)
c.6358C= (p.Arg2120=)
c.6538C= (p.Arg2180=)
c.6472C= (p.Arg2158=)
c.6535C= (p.Arg2179=)
c.6532C= (p.Arg2178=)
c.6478C= (p.Arg2160=)
c.6403C= (p.Arg2135=)
c.5998C= (p.Arg2000=)
c.5356C= (p.Arg1786=)
c.2866C= (p.Arg956=)
n.6781C=
10g.71793271C>GCA5546060CDH23c.6343C>G (p.Arg2115Gly)
c.6358C>G (p.Arg2120Gly)
c.6538C>G (p.Arg2180Gly)
c.6472C>G (p.Arg2158Gly)
c.6535C>G (p.Arg2179Gly)
c.6532C>G (p.Arg2178Gly)
c.6478C>G (p.Arg2160Gly)
c.6403C>G (p.Arg2135Gly)
c.5998C>G (p.Arg2000Gly)
c.5356C>G (p.Arg1786Gly)
c.2866C>G (p.Arg956Gly)
n.6781C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793271C>TCA5546059CDH23c.6343C>T (p.Arg2115Cys)
c.6358C>T (p.Arg2120Cys)
c.6538C>T (p.Arg2180Cys)
c.6472C>T (p.Arg2158Cys)
c.6535C>T (p.Arg2179Cys)
c.6532C>T (p.Arg2178Cys)
c.6478C>T (p.Arg2160Cys)
c.6403C>T (p.Arg2135Cys)
c.5998C>T (p.Arg2000Cys)
c.5356C>T (p.Arg1786Cys)
c.2866C>T (p.Arg956Cys)
n.6781C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793271_71793272delinsCGCA1918874202CDH23c.6343_6344delinsCG (p.Arg2115=)
c.6358_6359delinsCG (p.Arg2120=)
c.6538_6539delinsCG (p.Arg2180=)
c.6472_6473delinsCG (p.Arg2158=)
c.6535_6536delinsCG (p.Arg2179=)
c.6532_6533delinsCG (p.Arg2178=)
c.6478_6479delinsCG (p.Arg2160=)
c.6403_6404delinsCG (p.Arg2135=)
c.5998_5999delinsCG (p.Arg2000=)
c.5356_5357delinsCG (p.Arg1786=)
c.2866_2867delinsCG (p.Arg956=)
n.6781_6782delinsCG
10g.71793272delCA915945955CDH23c.6344del (p.Arg2115ProfsTer28)
c.6359del (p.Arg2120ProfsTer28)
c.6539del (p.Arg2180ProfsTer28)
c.6473del (p.Arg2158ProfsTer28)
c.6536del (p.Arg2179ProfsTer28)
c.6533del (p.Arg2178ProfsTer28)
c.6479del (p.Arg2160ProfsTer28)
c.6539del (p.Arg2180ProfsTer19)
c.6404del (p.Arg2135ProfsTer28)
c.5999del (p.Arg2000ProfsTer28)
c.5357del (p.Arg1786ProfsTer28)
c.2867del (p.Arg956ProfsTer28)
n.6782del
 ClinVar dbSNP gnomAD v4
10g.71793272G>ACA377154451CDH23c.6344G>A (p.Arg2115His)
c.6359G>A (p.Arg2120His)
c.6539G>A (p.Arg2180His)
c.6473G>A (p.Arg2158His)
c.6536G>A (p.Arg2179His)
c.6533G>A (p.Arg2178His)
c.6479G>A (p.Arg2160His)
c.6404G>A (p.Arg2135His)
c.5999G>A (p.Arg2000His)
c.5357G>A (p.Arg1786His)
c.2867G>A (p.Arg956His)
n.6782G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793272G>CCA377154452CDH23c.6344G>C (p.Arg2115Pro)
c.6359G>C (p.Arg2120Pro)
c.6539G>C (p.Arg2180Pro)
c.6473G>C (p.Arg2158Pro)
c.6536G>C (p.Arg2179Pro)
c.6533G>C (p.Arg2178Pro)
c.6479G>C (p.Arg2160Pro)
c.6404G>C (p.Arg2135Pro)
c.5999G>C (p.Arg2000Pro)
c.5357G>C (p.Arg1786Pro)
c.2867G>C (p.Arg956Pro)
n.6782G>C
10g.71793272G=CA1918874207CDH23c.6344G= (p.Arg2115=)
c.6359G= (p.Arg2120=)
c.6539G= (p.Arg2180=)
c.6473G= (p.Arg2158=)
c.6536G= (p.Arg2179=)
c.6533G= (p.Arg2178=)
c.6479G= (p.Arg2160=)
c.6404G= (p.Arg2135=)
c.5999G= (p.Arg2000=)
c.5357G= (p.Arg1786=)
c.2867G= (p.Arg956=)
n.6782G=
10g.71793272G>TCA377154454CDH23c.6344G>T (p.Arg2115Leu)
c.6359G>T (p.Arg2120Leu)
c.6539G>T (p.Arg2180Leu)
c.6473G>T (p.Arg2158Leu)
c.6536G>T (p.Arg2179Leu)
c.6533G>T (p.Arg2178Leu)
c.6479G>T (p.Arg2160Leu)
c.6404G>T (p.Arg2135Leu)
c.5999G>T (p.Arg2000Leu)
c.5357G>T (p.Arg1786Leu)
c.2867G>T (p.Arg956Leu)
n.6782G>T
 gnomAD v4
10g.71793272_71793273delinsGCCA1918874208CDH23c.6344_6345delinsGC (p.Arg2115=)
c.6359_6360delinsGC (p.Arg2120=)
c.6539_6540delinsGC (p.Arg2180=)
c.6473_6474delinsGC (p.Arg2158=)
c.6536_6537delinsGC (p.Arg2179=)
c.6533_6534delinsGC (p.Arg2178=)
c.6479_6480delinsGC (p.Arg2160=)
c.6404_6405delinsGC (p.Arg2135=)
c.5999_6000delinsGC (p.Arg2000=)
c.5357_5358delinsGC (p.Arg1786=)
c.2867_2868delinsGC (p.Arg956=)
n.6782_6783delinsGC
10g.71793273delCA916083138CDH23c.6345del (p.Phe2116SerfsTer27)
c.6360del (p.Phe2121SerfsTer27)
c.6540del (p.Phe2181SerfsTer27)
c.6474del (p.Phe2159SerfsTer27)
c.6537del (p.Phe2180SerfsTer27)
c.6534del (p.Phe2179SerfsTer27)
c.6480del (p.Phe2161SerfsTer27)
c.6540del (p.Phe2181SerfsTer18)
c.6405del (p.Phe2136SerfsTer27)
c.6000del (p.Phe2001SerfsTer27)
c.5358del (p.Phe1787SerfsTer27)
c.2868del (p.Phe957SerfsTer27)
n.6783del
 ClinVar dbSNP
10g.71793273C>TCA2609580403CDH23c.6345C>T (p.Arg2115=)
c.6360C>T (p.Arg2120=)
c.6540C>T (p.Arg2180=)
c.6474C>T (p.Arg2158=)
c.6537C>T (p.Arg2179=)
c.6534C>T (p.Arg2178=)
c.6480C>T (p.Arg2160=)
c.6405C>T (p.Arg2135=)
c.6000C>T (p.Arg2000=)
c.5358C>T (p.Arg1786=)
c.2868C>T (p.Arg956=)
n.6783C>T
 gnomAD v4
10g.71793274T>ACA377154458CDH23c.6346T>A (p.Phe2116Ile)
c.6361T>A (p.Phe2121Ile)
c.6541T>A (p.Phe2181Ile)
c.6475T>A (p.Phe2159Ile)
c.6538T>A (p.Phe2180Ile)
c.6535T>A (p.Phe2179Ile)
c.6481T>A (p.Phe2161Ile)
c.6406T>A (p.Phe2136Ile)
c.6001T>A (p.Phe2001Ile)
c.5359T>A (p.Phe1787Ile)
c.2869T>A (p.Phe957Ile)
n.6784T>A
10g.71793274T>CCA377154460CDH23c.6346T>C (p.Phe2116Leu)
c.6361T>C (p.Phe2121Leu)
c.6541T>C (p.Phe2181Leu)
c.6475T>C (p.Phe2159Leu)
c.6538T>C (p.Phe2180Leu)
c.6535T>C (p.Phe2179Leu)
c.6481T>C (p.Phe2161Leu)
c.6406T>C (p.Phe2136Leu)
c.6001T>C (p.Phe2001Leu)
c.5359T>C (p.Phe1787Leu)
c.2869T>C (p.Phe957Leu)
n.6784T>C
 gnomAD v4
10g.71793274T>GCA377154463CDH23c.6346T>G (p.Phe2116Val)
c.6361T>G (p.Phe2121Val)
c.6541T>G (p.Phe2181Val)
c.6475T>G (p.Phe2159Val)
c.6538T>G (p.Phe2180Val)
c.6535T>G (p.Phe2179Val)
c.6481T>G (p.Phe2161Val)
c.6406T>G (p.Phe2136Val)
c.6001T>G (p.Phe2001Val)
c.5359T>G (p.Phe1787Val)
c.2869T>G (p.Phe957Val)
n.6784T>G
10g.71793274_71793275delCA2695199527CDH23c.6346_6347del (p.Phe2116ProfsTer13)
c.6361_6362del (p.Phe2121ProfsTer13)
c.6541_6542del (p.Phe2181ProfsTer13)
c.6475_6476del (p.Phe2159ProfsTer13)
c.6538_6539del (p.Phe2180ProfsTer13)
c.6535_6536del (p.Phe2179ProfsTer13)
c.6481_6482del (p.Phe2161ProfsTer13)
c.6541_6542del (p.Phe2181ProfsTer20)
c.6406_6407del (p.Phe2136ProfsTer13)
c.6001_6002del (p.Phe2001ProfsTer13)
c.5359_5360del (p.Phe1787ProfsTer13)
c.2869_2870del (p.Phe957ProfsTer13)
n.6784_6785del
 ClinVar
10g.71793275T>ACA377154465CDH23c.6347T>A (p.Phe2116Tyr)
c.6362T>A (p.Phe2121Tyr)
c.6542T>A (p.Phe2181Tyr)
c.6476T>A (p.Phe2159Tyr)
c.6539T>A (p.Phe2180Tyr)
c.6536T>A (p.Phe2179Tyr)
c.6482T>A (p.Phe2161Tyr)
c.6407T>A (p.Phe2136Tyr)
c.6002T>A (p.Phe2001Tyr)
c.5360T>A (p.Phe1787Tyr)
c.2870T>A (p.Phe957Tyr)
n.6785T>A
10g.71793275T>CCA377154466CDH23c.6347T>C (p.Phe2116Ser)
c.6362T>C (p.Phe2121Ser)
c.6542T>C (p.Phe2181Ser)
c.6476T>C (p.Phe2159Ser)
c.6539T>C (p.Phe2180Ser)
c.6536T>C (p.Phe2179Ser)
c.6482T>C (p.Phe2161Ser)
c.6407T>C (p.Phe2136Ser)
c.6002T>C (p.Phe2001Ser)
c.5360T>C (p.Phe1787Ser)
c.2870T>C (p.Phe957Ser)
n.6785T>C
10g.71793275T>GCA377154468CDH23c.6347T>G (p.Phe2116Cys)
c.6362T>G (p.Phe2121Cys)
c.6542T>G (p.Phe2181Cys)
c.6476T>G (p.Phe2159Cys)
c.6539T>G (p.Phe2180Cys)
c.6536T>G (p.Phe2179Cys)
c.6482T>G (p.Phe2161Cys)
c.6407T>G (p.Phe2136Cys)
c.6002T>G (p.Phe2001Cys)
c.5360T>G (p.Phe1787Cys)
c.2870T>G (p.Phe957Cys)
n.6785T>G
10g.71793276C>ACA377154471CDH23c.6348C>A (p.Phe2116Leu)
c.6363C>A (p.Phe2121Leu)
c.6543C>A (p.Phe2181Leu)
c.6477C>A (p.Phe2159Leu)
c.6540C>A (p.Phe2180Leu)
c.6537C>A (p.Phe2179Leu)
c.6483C>A (p.Phe2161Leu)
c.6408C>A (p.Phe2136Leu)
c.6003C>A (p.Phe2001Leu)
c.5361C>A (p.Phe1787Leu)
c.2871C>A (p.Phe957Leu)
n.6786C>A
10g.71793276C=CA1918874212CDH23c.6348C= (p.Phe2116=)
c.6363C= (p.Phe2121=)
c.6543C= (p.Phe2181=)
c.6477C= (p.Phe2159=)
c.6540C= (p.Phe2180=)
c.6537C= (p.Phe2179=)
c.6483C= (p.Phe2161=)
c.6408C= (p.Phe2136=)
c.6003C= (p.Phe2001=)
c.5361C= (p.Phe1787=)
c.2871C= (p.Phe957=)
n.6786C=
10g.71793276C>GCA209466023CDH23c.6348C>G (p.Phe2116Leu)
c.6363C>G (p.Phe2121Leu)
c.6543C>G (p.Phe2181Leu)
c.6477C>G (p.Phe2159Leu)
c.6540C>G (p.Phe2180Leu)
c.6537C>G (p.Phe2179Leu)
c.6483C>G (p.Phe2161Leu)
c.6408C>G (p.Phe2136Leu)
c.6003C>G (p.Phe2001Leu)
c.5361C>G (p.Phe1787Leu)
c.2871C>G (p.Phe957Leu)
n.6786C>G
 dbSNP gnomAD v3 gnomAD v4
10g.71793276C>TCA645559613CDH23c.6348C>T (p.Phe2116=)
c.6363C>T (p.Phe2121=)
c.6543C>T (p.Phe2181=)
c.6477C>T (p.Phe2159=)
c.6540C>T (p.Phe2180=)
c.6537C>T (p.Phe2179=)
c.6483C>T (p.Phe2161=)
c.6408C>T (p.Phe2136=)
c.6003C>T (p.Phe2001=)
c.5361C>T (p.Phe1787=)
c.2871C>T (p.Phe957=)
n.6786C>T
 ClinVar dbSNP COSMIC
10g.71793277C>ACA377154475CDH23c.6349C>A (p.Leu2117Ile)
c.6364C>A (p.Leu2122Ile)
c.6544C>A (p.Leu2182Ile)
c.6478C>A (p.Leu2160Ile)
c.6541C>A (p.Leu2181Ile)
c.6538C>A (p.Leu2180Ile)
c.6484C>A (p.Leu2162Ile)
c.6409C>A (p.Leu2137Ile)
c.6004C>A (p.Leu2002Ile)
c.5362C>A (p.Leu1788Ile)
c.2872C>A (p.Leu958Ile)
n.6787C>A
10g.71793277C>GCA377154478CDH23c.6349C>G (p.Leu2117Val)
c.6364C>G (p.Leu2122Val)
c.6544C>G (p.Leu2182Val)
c.6478C>G (p.Leu2160Val)
c.6541C>G (p.Leu2181Val)
c.6538C>G (p.Leu2180Val)
c.6484C>G (p.Leu2162Val)
c.6409C>G (p.Leu2137Val)
c.6004C>G (p.Leu2002Val)
c.5362C>G (p.Leu1788Val)
c.2872C>G (p.Leu958Val)
n.6787C>G
10g.71793277C>TCA377154487CDH23c.6349C>T (p.Leu2117Phe)
c.6364C>T (p.Leu2122Phe)
c.6544C>T (p.Leu2182Phe)
c.6478C>T (p.Leu2160Phe)
c.6541C>T (p.Leu2181Phe)
c.6538C>T (p.Leu2180Phe)
c.6484C>T (p.Leu2162Phe)
c.6409C>T (p.Leu2137Phe)
c.6004C>T (p.Leu2002Phe)
c.5362C>T (p.Leu1788Phe)
c.2872C>T (p.Leu958Phe)
n.6787C>T
10g.71793278T>ACA377154489CDH23c.6350T>A (p.Leu2117His)
c.6365T>A (p.Leu2122His)
c.6545T>A (p.Leu2182His)
c.6479T>A (p.Leu2160His)
c.6542T>A (p.Leu2181His)
c.6539T>A (p.Leu2180His)
c.6485T>A (p.Leu2162His)
c.6410T>A (p.Leu2137His)
c.6005T>A (p.Leu2002His)
c.5363T>A (p.Leu1788His)
c.2873T>A (p.Leu958His)
n.6788T>A
10g.71793278T>CCA377154492CDH23c.6350T>C (p.Leu2117Pro)
c.6365T>C (p.Leu2122Pro)
c.6545T>C (p.Leu2182Pro)
c.6479T>C (p.Leu2160Pro)
c.6542T>C (p.Leu2181Pro)
c.6539T>C (p.Leu2180Pro)
c.6485T>C (p.Leu2162Pro)
c.6410T>C (p.Leu2137Pro)
c.6005T>C (p.Leu2002Pro)
c.5363T>C (p.Leu1788Pro)
c.2873T>C (p.Leu958Pro)
n.6788T>C
10g.71793278T>GCA377154493CDH23c.6350T>G (p.Leu2117Arg)
c.6365T>G (p.Leu2122Arg)
c.6545T>G (p.Leu2182Arg)
c.6479T>G (p.Leu2160Arg)
c.6542T>G (p.Leu2181Arg)
c.6539T>G (p.Leu2180Arg)
c.6485T>G (p.Leu2162Arg)
c.6410T>G (p.Leu2137Arg)
c.6005T>G (p.Leu2002Arg)
c.5363T>G (p.Leu1788Arg)
c.2873T>G (p.Leu958Arg)
n.6788T>G
10g.71793279C=CA1918874214CDH23c.6351C= (p.Leu2117=)
c.6366C= (p.Leu2122=)
c.6546C= (p.Leu2182=)
c.6480C= (p.Leu2160=)
c.6543C= (p.Leu2181=)
c.6540C= (p.Leu2180=)
c.6486C= (p.Leu2162=)
c.6411C= (p.Leu2137=)
c.6006C= (p.Leu2002=)
c.5364C= (p.Leu1788=)
c.2874C= (p.Leu958=)
n.6789C=
10g.71793279C>TCA929791299CDH23c.6351C>T (p.Leu2117=)
c.6366C>T (p.Leu2122=)
c.6546C>T (p.Leu2182=)
c.6480C>T (p.Leu2160=)
c.6543C>T (p.Leu2181=)
c.6540C>T (p.Leu2180=)
c.6486C>T (p.Leu2162=)
c.6411C>T (p.Leu2137=)
c.6006C>T (p.Leu2002=)
c.5364C>T (p.Leu1788=)
c.2874C>T (p.Leu958=)
n.6789C>T
 dbSNP gnomAD v3 gnomAD v4
10g.71793280A=CA1918874215CDH23c.6352A= (p.Ile2118=)
c.6367A= (p.Ile2123=)
c.6547A= (p.Ile2183=)
c.6481A= (p.Ile2161=)
c.6544A= (p.Ile2182=)
c.6541A= (p.Ile2181=)
c.6487A= (p.Ile2163=)
c.6412A= (p.Ile2138=)
c.6007A= (p.Ile2003=)
c.5365A= (p.Ile1789=)
c.2875A= (p.Ile959=)
n.6790A=
10g.71793280A>CCA377154495CDH23c.6352A>C (p.Ile2118Leu)
c.6367A>C (p.Ile2123Leu)
c.6547A>C (p.Ile2183Leu)
c.6481A>C (p.Ile2161Leu)
c.6544A>C (p.Ile2182Leu)
c.6541A>C (p.Ile2181Leu)
c.6487A>C (p.Ile2163Leu)
c.6412A>C (p.Ile2138Leu)
c.6007A>C (p.Ile2003Leu)
c.5365A>C (p.Ile1789Leu)
c.2875A>C (p.Ile959Leu)
n.6790A>C
10g.71793280A>GCA377154498CDH23c.6352A>G (p.Ile2118Val)
c.6367A>G (p.Ile2123Val)
c.6547A>G (p.Ile2183Val)
c.6481A>G (p.Ile2161Val)
c.6544A>G (p.Ile2182Val)
c.6541A>G (p.Ile2181Val)
c.6487A>G (p.Ile2163Val)
c.6412A>G (p.Ile2138Val)
c.6007A>G (p.Ile2003Val)
c.5365A>G (p.Ile1789Val)
c.2875A>G (p.Ile959Val)
n.6790A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71793280A>TCA377154499CDH23c.6352A>T (p.Ile2118Phe)
c.6367A>T (p.Ile2123Phe)
c.6547A>T (p.Ile2183Phe)
c.6481A>T (p.Ile2161Phe)
c.6544A>T (p.Ile2182Phe)
c.6541A>T (p.Ile2181Phe)
c.6487A>T (p.Ile2163Phe)
c.6412A>T (p.Ile2138Phe)
c.6007A>T (p.Ile2003Phe)
c.5365A>T (p.Ile1789Phe)
c.2875A>T (p.Ile959Phe)
n.6790A>T
 gnomAD v4
10g.71793281T>ACA377154502CDH23c.6353T>A (p.Ile2118Asn)
c.6368T>A (p.Ile2123Asn)
c.6548T>A (p.Ile2183Asn)
c.6482T>A (p.Ile2161Asn)
c.6545T>A (p.Ile2182Asn)
c.6542T>A (p.Ile2181Asn)
c.6488T>A (p.Ile2163Asn)
c.6413T>A (p.Ile2138Asn)
c.6008T>A (p.Ile2003Asn)
c.5366T>A (p.Ile1789Asn)
c.2876T>A (p.Ile959Asn)
n.6791T>A
 COSMIC
10g.71793281T>CCA377154506CDH23c.6353T>C (p.Ile2118Thr)
c.6368T>C (p.Ile2123Thr)
c.6548T>C (p.Ile2183Thr)
c.6482T>C (p.Ile2161Thr)
c.6545T>C (p.Ile2182Thr)
c.6542T>C (p.Ile2181Thr)
c.6488T>C (p.Ile2163Thr)
c.6413T>C (p.Ile2138Thr)
c.6008T>C (p.Ile2003Thr)
c.5366T>C (p.Ile1789Thr)
c.2876T>C (p.Ile959Thr)
n.6791T>C
10g.71793281T>GCA377154507CDH23c.6353T>G (p.Ile2118Ser)
c.6368T>G (p.Ile2123Ser)
c.6548T>G (p.Ile2183Ser)
c.6482T>G (p.Ile2161Ser)
c.6545T>G (p.Ile2182Ser)
c.6542T>G (p.Ile2181Ser)
c.6488T>G (p.Ile2163Ser)
c.6413T>G (p.Ile2138Ser)
c.6008T>G (p.Ile2003Ser)
c.5366T>G (p.Ile1789Ser)
c.2876T>G (p.Ile959Ser)
n.6791T>G
10g.71793282T>CCA915945956CDH23c.6354T>C (p.Ile2118=)
c.6369T>C (p.Ile2123=)
c.6549T>C (p.Ile2183=)
c.6483T>C (p.Ile2161=)
c.6546T>C (p.Ile2182=)
c.6543T>C (p.Ile2181=)
c.6489T>C (p.Ile2163=)
c.6414T>C (p.Ile2138=)
c.6009T>C (p.Ile2003=)
c.5367T>C (p.Ile1789=)
c.2877T>C (p.Ile959=)
n.6792T>C
 ClinVar dbSNP
10g.71793282T>GCA377154509CDH23c.6354T>G (p.Ile2118Met)
c.6369T>G (p.Ile2123Met)
c.6549T>G (p.Ile2183Met)
c.6483T>G (p.Ile2161Met)
c.6546T>G (p.Ile2182Met)
c.6543T>G (p.Ile2181Met)
c.6489T>G (p.Ile2163Met)
c.6414T>G (p.Ile2138Met)
c.6009T>G (p.Ile2003Met)
c.5367T>G (p.Ile1789Met)
c.2877T>G (p.Ile959Met)
n.6792T>G
10g.71793282T=CA1918874217CDH23c.6354T= (p.Ile2118=)
c.6369T= (p.Ile2123=)
c.6549T= (p.Ile2183=)
c.6483T= (p.Ile2161=)
c.6546T= (p.Ile2182=)
c.6543T= (p.Ile2181=)
c.6489T= (p.Ile2163=)
c.6414T= (p.Ile2138=)
c.6009T= (p.Ile2003=)
c.5367T= (p.Ile1789=)
c.2877T= (p.Ile959=)
n.6792T=
10g.71793283C>ACA377154530CDH23c.6355C>A (p.His2119Asn)
c.6370C>A (p.His2124Asn)
c.6550C>A (p.His2184Asn)
c.6484C>A (p.His2162Asn)
c.6547C>A (p.His2183Asn)
c.6544C>A (p.His2182Asn)
c.6490C>A (p.His2164Asn)
c.6415C>A (p.His2139Asn)
c.6010C>A (p.His2004Asn)
c.5368C>A (p.His1790Asn)
c.2878C>A (p.His960Asn)
n.6793C>A
10g.71793283C>GCA377154533CDH23c.6355C>G (p.His2119Asp)
c.6370C>G (p.His2124Asp)
c.6550C>G (p.His2184Asp)
c.6484C>G (p.His2162Asp)
c.6547C>G (p.His2183Asp)
c.6544C>G (p.His2182Asp)
c.6490C>G (p.His2164Asp)
c.6415C>G (p.His2139Asp)
c.6010C>G (p.His2004Asp)
c.5368C>G (p.His1790Asp)
c.2878C>G (p.His960Asp)
n.6793C>G
10g.71793283C>TCA377154512CDH23c.6355C>T (p.His2119Tyr)
c.6370C>T (p.His2124Tyr)
c.6550C>T (p.His2184Tyr)
c.6484C>T (p.His2162Tyr)
c.6547C>T (p.His2183Tyr)
c.6544C>T (p.His2182Tyr)
c.6490C>T (p.His2164Tyr)
c.6415C>T (p.His2139Tyr)
c.6010C>T (p.His2004Tyr)
c.5368C>T (p.His1790Tyr)
c.2878C>T (p.His960Tyr)
n.6793C>T
 gnomAD v4
10g.71793284A>CCA377154535CDH23c.6356A>C (p.His2119Pro)
c.6371A>C (p.His2124Pro)
c.6551A>C (p.His2184Pro)
c.6485A>C (p.His2162Pro)
c.6548A>C (p.His2183Pro)
c.6545A>C (p.His2182Pro)
c.6491A>C (p.His2164Pro)
c.6416A>C (p.His2139Pro)
c.6011A>C (p.His2004Pro)
c.5369A>C (p.His1790Pro)
c.2879A>C (p.His960Pro)
n.6794A>C
 gnomAD v4
10g.71793284A>GCA377154538CDH23c.6356A>G (p.His2119Arg)
c.6371A>G (p.His2124Arg)
c.6551A>G (p.His2184Arg)
c.6485A>G (p.His2162Arg)
c.6548A>G (p.His2183Arg)
c.6545A>G (p.His2182Arg)
c.6491A>G (p.His2164Arg)
c.6416A>G (p.His2139Arg)
c.6011A>G (p.His2004Arg)
c.5369A>G (p.His1790Arg)
c.2879A>G (p.His960Arg)
n.6794A>G
10g.71793284A>TCA377154540CDH23c.6356A>T (p.His2119Leu)
c.6371A>T (p.His2124Leu)
c.6551A>T (p.His2184Leu)
c.6485A>T (p.His2162Leu)
c.6548A>T (p.His2183Leu)
c.6545A>T (p.His2182Leu)
c.6491A>T (p.His2164Leu)
c.6416A>T (p.His2139Leu)
c.6011A>T (p.His2004Leu)
c.5369A>T (p.His1790Leu)
c.2879A>T (p.His960Leu)
n.6794A>T
10g.71793285T>ACA377154541CDH23c.6357T>A (p.His2119Gln)
c.6372T>A (p.His2124Gln)
c.6552T>A (p.His2184Gln)
c.6486T>A (p.His2162Gln)
c.6549T>A (p.His2183Gln)
c.6546T>A (p.His2182Gln)
c.6492T>A (p.His2164Gln)
c.6417T>A (p.His2139Gln)
c.6012T>A (p.His2004Gln)
c.5370T>A (p.His1790Gln)
c.2880T>A (p.His960Gln)
n.6795T>A
10g.71793285T>GCA377154543CDH23c.6357T>G (p.His2119Gln)
c.6372T>G (p.His2124Gln)
c.6552T>G (p.His2184Gln)
c.6486T>G (p.His2162Gln)
c.6549T>G (p.His2183Gln)
c.6546T>G (p.His2182Gln)
c.6492T>G (p.His2164Gln)
c.6417T>G (p.His2139Gln)
c.6012T>G (p.His2004Gln)
c.5370T>G (p.His1790Gln)
c.2880T>G (p.His960Gln)
n.6795T>G
10g.71793286C>ACA377154546CDH23c.6358C>A (p.Leu2120Met)
c.6373C>A (p.Leu2125Met)
c.6553C>A (p.Leu2185Met)
c.6487C>A (p.Leu2163Met)
c.6550C>A (p.Leu2184Met)
c.6547C>A (p.Leu2183Met)
c.6493C>A (p.Leu2165Met)
c.6418C>A (p.Leu2140Met)
c.6013C>A (p.Leu2005Met)
c.5371C>A (p.Leu1791Met)
c.2881C>A (p.Leu961Met)
n.6796C>A
10g.71793286C=CA1918874218CDH23c.6358C= (p.Leu2120=)
c.6373C= (p.Leu2125=)
c.6553C= (p.Leu2185=)
c.6487C= (p.Leu2163=)
c.6550C= (p.Leu2184=)
c.6547C= (p.Leu2183=)
c.6493C= (p.Leu2165=)
c.6418C= (p.Leu2140=)
c.6013C= (p.Leu2005=)
c.5371C= (p.Leu1791=)
c.2881C= (p.Leu961=)
n.6796C=
10g.71793286C>GCA377154548CDH23c.6358C>G (p.Leu2120Val)
c.6373C>G (p.Leu2125Val)
c.6553C>G (p.Leu2185Val)
c.6487C>G (p.Leu2163Val)
c.6550C>G (p.Leu2184Val)
c.6547C>G (p.Leu2183Val)
c.6493C>G (p.Leu2165Val)
c.6418C>G (p.Leu2140Val)
c.6013C>G (p.Leu2005Val)
c.5371C>G (p.Leu1791Val)
c.2881C>G (p.Leu961Val)
n.6796C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793286C>TCA1918874220CDH23c.6358C>T (p.Leu2120=)
c.6373C>T (p.Leu2125=)
c.6553C>T (p.Leu2185=)
c.6487C>T (p.Leu2163=)
c.6550C>T (p.Leu2184=)
c.6547C>T (p.Leu2183=)
c.6493C>T (p.Leu2165=)
c.6418C>T (p.Leu2140=)
c.6013C>T (p.Leu2005=)
c.5371C>T (p.Leu1791=)
c.2881C>T (p.Leu961=)
n.6796C>T
 dbSNP gnomAD v4
10g.71793287T>ACA377154550CDH23c.6359T>A (p.Leu2120Gln)
c.6374T>A (p.Leu2125Gln)
c.6554T>A (p.Leu2185Gln)
c.6488T>A (p.Leu2163Gln)
c.6551T>A (p.Leu2184Gln)
c.6548T>A (p.Leu2183Gln)
c.6494T>A (p.Leu2165Gln)
c.6419T>A (p.Leu2140Gln)
c.6014T>A (p.Leu2005Gln)
c.5372T>A (p.Leu1791Gln)
c.2882T>A (p.Leu961Gln)
n.6797T>A
10g.71793287T>CCA377154551CDH23c.6359T>C (p.Leu2120Pro)
c.6374T>C (p.Leu2125Pro)
c.6554T>C (p.Leu2185Pro)
c.6488T>C (p.Leu2163Pro)
c.6551T>C (p.Leu2184Pro)
c.6548T>C (p.Leu2183Pro)
c.6494T>C (p.Leu2165Pro)
c.6419T>C (p.Leu2140Pro)
c.6014T>C (p.Leu2005Pro)
c.5372T>C (p.Leu1791Pro)
c.2882T>C (p.Leu961Pro)
n.6797T>C
10g.71793287T>GCA377154554CDH23c.6359T>G (p.Leu2120Arg)
c.6374T>G (p.Leu2125Arg)
c.6554T>G (p.Leu2185Arg)
c.6488T>G (p.Leu2163Arg)
c.6551T>G (p.Leu2184Arg)
c.6548T>G (p.Leu2183Arg)
c.6494T>G (p.Leu2165Arg)
c.6419T>G (p.Leu2140Arg)
c.6014T>G (p.Leu2005Arg)
c.5372T>G (p.Leu1791Arg)
c.2882T>G (p.Leu961Arg)
n.6797T>G
10g.71793289G>ACA377154556CDH23c.6361G>A (p.Val2121Ile)
c.6376G>A (p.Val2126Ile)
c.6556G>A (p.Val2186Ile)
c.6490G>A (p.Val2164Ile)
c.6553G>A (p.Val2185Ile)
c.6550G>A (p.Val2184Ile)
c.6496G>A (p.Val2166Ile)
c.6421G>A (p.Val2141Ile)
c.6016G>A (p.Val2006Ile)
c.5374G>A (p.Val1792Ile)
c.2884G>A (p.Val962Ile)
n.6799G>A
10g.71793289G>CCA377154558CDH23c.6361G>C (p.Val2121Leu)
c.6376G>C (p.Val2126Leu)
c.6556G>C (p.Val2186Leu)
c.6490G>C (p.Val2164Leu)
c.6553G>C (p.Val2185Leu)
c.6550G>C (p.Val2184Leu)
c.6496G>C (p.Val2166Leu)
c.6421G>C (p.Val2141Leu)
c.6016G>C (p.Val2006Leu)
c.5374G>C (p.Val1792Leu)
c.2884G>C (p.Val962Leu)
n.6799G>C
10g.71793289G>TCA377154560CDH23c.6361G>T (p.Val2121Phe)
c.6376G>T (p.Val2126Phe)
c.6556G>T (p.Val2186Phe)
c.6490G>T (p.Val2164Phe)
c.6553G>T (p.Val2185Phe)
c.6550G>T (p.Val2184Phe)
c.6496G>T (p.Val2166Phe)
c.6421G>T (p.Val2141Phe)
c.6016G>T (p.Val2006Phe)
c.5374G>T (p.Val1792Phe)
c.2884G>T (p.Val962Phe)
n.6799G>T
10g.71793290T>ACA377154567CDH23c.6362T>A (p.Val2121Asp)
c.6377T>A (p.Val2126Asp)
c.6557T>A (p.Val2186Asp)
c.6491T>A (p.Val2164Asp)
c.6554T>A (p.Val2185Asp)
c.6551T>A (p.Val2184Asp)
c.6497T>A (p.Val2166Asp)
c.6422T>A (p.Val2141Asp)
c.6017T>A (p.Val2006Asp)
c.5375T>A (p.Val1792Asp)
c.2885T>A (p.Val962Asp)
n.6800T>A
10g.71793290T>CCA377154566CDH23c.6362T>C (p.Val2121Ala)
c.6377T>C (p.Val2126Ala)
c.6557T>C (p.Val2186Ala)
c.6491T>C (p.Val2164Ala)
c.6554T>C (p.Val2185Ala)
c.6551T>C (p.Val2184Ala)
c.6497T>C (p.Val2166Ala)
c.6422T>C (p.Val2141Ala)
c.6017T>C (p.Val2006Ala)
c.5375T>C (p.Val1792Ala)
c.2885T>C (p.Val962Ala)
n.6800T>C
 dbSNP gnomAD v3 gnomAD v4
10g.71793290T>GCA377154563CDH23c.6362T>G (p.Val2121Gly)
c.6377T>G (p.Val2126Gly)
c.6557T>G (p.Val2186Gly)
c.6491T>G (p.Val2164Gly)
c.6554T>G (p.Val2185Gly)
c.6551T>G (p.Val2184Gly)
c.6497T>G (p.Val2166Gly)
c.6422T>G (p.Val2141Gly)
c.6017T>G (p.Val2006Gly)
c.5375T>G (p.Val1792Gly)
c.2885T>G (p.Val962Gly)
n.6800T>G
10g.71793290T=CA1918874222CDH23c.6362T= (p.Val2121=)
c.6377T= (p.Val2126=)
c.6557T= (p.Val2186=)
c.6491T= (p.Val2164=)
c.6554T= (p.Val2185=)
c.6551T= (p.Val2184=)
c.6497T= (p.Val2166=)
c.6422T= (p.Val2141=)
c.6017T= (p.Val2006=)
c.5375T= (p.Val1792=)
c.2885T= (p.Val962=)
n.6800T=
10g.71793291C>ACA2722018818CDH23c.6363C>A (p.Val2121=)
c.6378C>A (p.Val2126=)
c.6558C>A (p.Val2186=)
c.6492C>A (p.Val2164=)
c.6555C>A (p.Val2185=)
c.6552C>A (p.Val2184=)
c.6498C>A (p.Val2166=)
c.6423C>A (p.Val2141=)
c.6018C>A (p.Val2006=)
c.5376C>A (p.Val1792=)
c.2886C>A (p.Val962=)
n.6801C>A
 dbSNP
10g.71793291C=CA1918874223CDH23c.6363C= (p.Val2121=)
c.6378C= (p.Val2126=)
c.6558C= (p.Val2186=)
c.6492C= (p.Val2164=)
c.6555C= (p.Val2185=)
c.6552C= (p.Val2184=)
c.6498C= (p.Val2166=)
c.6423C= (p.Val2141=)
c.6018C= (p.Val2006=)
c.5376C= (p.Val1792=)
c.2886C= (p.Val962=)
n.6801C=
10g.71793291C>TCA5546061CDH23c.6363C>T (p.Val2121=)
c.6378C>T (p.Val2126=)
c.6558C>T (p.Val2186=)
c.6492C>T (p.Val2164=)
c.6555C>T (p.Val2185=)
c.6552C>T (p.Val2184=)
c.6498C>T (p.Val2166=)
c.6423C>T (p.Val2141=)
c.6018C>T (p.Val2006=)
c.5376C>T (p.Val1792=)
c.2886C>T (p.Val962=)
n.6801C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793292A>CCA377154571CDH23c.6364A>C (p.Thr2122Pro)
c.6379A>C (p.Thr2127Pro)
c.6559A>C (p.Thr2187Pro)
c.6493A>C (p.Thr2165Pro)
c.6556A>C (p.Thr2186Pro)
c.6553A>C (p.Thr2185Pro)
c.6499A>C (p.Thr2167Pro)
c.6424A>C (p.Thr2142Pro)
c.6019A>C (p.Thr2007Pro)
c.5377A>C (p.Thr1793Pro)
c.2887A>C (p.Thr963Pro)
n.6802A>C
10g.71793292A>GCA377154573CDH23c.6364A>G (p.Thr2122Ala)
c.6379A>G (p.Thr2127Ala)
c.6559A>G (p.Thr2187Ala)
c.6493A>G (p.Thr2165Ala)
c.6556A>G (p.Thr2186Ala)
c.6553A>G (p.Thr2185Ala)
c.6499A>G (p.Thr2167Ala)
c.6424A>G (p.Thr2142Ala)
c.6019A>G (p.Thr2007Ala)
c.5377A>G (p.Thr1793Ala)
c.2887A>G (p.Thr963Ala)
n.6802A>G
10g.71793292A>TCA377154576CDH23c.6364A>T (p.Thr2122Ser)
c.6379A>T (p.Thr2127Ser)
c.6559A>T (p.Thr2187Ser)
c.6493A>T (p.Thr2165Ser)
c.6556A>T (p.Thr2186Ser)
c.6553A>T (p.Thr2185Ser)
c.6499A>T (p.Thr2167Ser)
c.6424A>T (p.Thr2142Ser)
c.6019A>T (p.Thr2007Ser)
c.5377A>T (p.Thr1793Ser)
c.2887A>T (p.Thr963Ser)
n.6802A>T
10g.71793293C>ACA377154579CDH23c.6365C>A (p.Thr2122Asn)
c.6380C>A (p.Thr2127Asn)
c.6560C>A (p.Thr2187Asn)
c.6494C>A (p.Thr2165Asn)
c.6557C>A (p.Thr2186Asn)
c.6554C>A (p.Thr2185Asn)
c.6500C>A (p.Thr2167Asn)
c.6425C>A (p.Thr2142Asn)
c.6020C>A (p.Thr2007Asn)
c.5378C>A (p.Thr1793Asn)
c.2888C>A (p.Thr963Asn)
n.6803C>A
10g.71793293C=CA1918874225CDH23c.6365C= (p.Thr2122=)
c.6380C= (p.Thr2127=)
c.6560C= (p.Thr2187=)
c.6494C= (p.Thr2165=)
c.6557C= (p.Thr2186=)
c.6554C= (p.Thr2185=)
c.6500C= (p.Thr2167=)
c.6425C= (p.Thr2142=)
c.6020C= (p.Thr2007=)
c.5378C= (p.Thr1793=)
c.2888C= (p.Thr963=)
n.6803C=
10g.71793293C>GCA377154581CDH23c.6365C>G (p.Thr2122Ser)
c.6380C>G (p.Thr2127Ser)
c.6560C>G (p.Thr2187Ser)
c.6494C>G (p.Thr2165Ser)
c.6557C>G (p.Thr2186Ser)
c.6554C>G (p.Thr2185Ser)
c.6500C>G (p.Thr2167Ser)
c.6425C>G (p.Thr2142Ser)
c.6020C>G (p.Thr2007Ser)
c.5378C>G (p.Thr1793Ser)
c.2888C>G (p.Thr963Ser)
n.6803C>G
 dbSNP gnomAD v4
10g.71793293C>TCA377154584CDH23c.6365C>T (p.Thr2122Ile)
c.6380C>T (p.Thr2127Ile)
c.6560C>T (p.Thr2187Ile)
c.6494C>T (p.Thr2165Ile)
c.6557C>T (p.Thr2186Ile)
c.6554C>T (p.Thr2185Ile)
c.6500C>T (p.Thr2167Ile)
c.6425C>T (p.Thr2142Ile)
c.6020C>T (p.Thr2007Ile)
c.5378C>T (p.Thr1793Ile)
c.2888C>T (p.Thr963Ile)
n.6803C>T
 dbSNP
10g.71793294C=CA1918874226CDH23c.6366C= (p.Thr2122=)
c.6381C= (p.Thr2127=)
c.6561C= (p.Thr2187=)
c.6495C= (p.Thr2165=)
c.6558C= (p.Thr2186=)
c.6555C= (p.Thr2185=)
c.6501C= (p.Thr2167=)
c.6426C= (p.Thr2142=)
c.6021C= (p.Thr2007=)
c.5379C= (p.Thr1793=)
c.2889C= (p.Thr963=)
n.6804C=
10g.71793294C>GCA2580081861CDH23c.6366C>G (p.Thr2122=)
c.6381C>G (p.Thr2127=)
c.6561C>G (p.Thr2187=)
c.6495C>G (p.Thr2165=)
c.6558C>G (p.Thr2186=)
c.6555C>G (p.Thr2185=)
c.6501C>G (p.Thr2167=)
c.6426C>G (p.Thr2142=)
c.6021C>G (p.Thr2007=)
c.5379C>G (p.Thr1793=)
c.2889C>G (p.Thr963=)
n.6804C>G
 ClinVar
10g.71793294C>TCA5546062CDH23c.6366C>T (p.Thr2122=)
c.6381C>T (p.Thr2127=)
c.6561C>T (p.Thr2187=)
c.6495C>T (p.Thr2165=)
c.6558C>T (p.Thr2186=)
c.6555C>T (p.Thr2185=)
c.6501C>T (p.Thr2167=)
c.6426C>T (p.Thr2142=)
c.6021C>T (p.Thr2007=)
c.5379C>T (p.Thr1793=)
c.2889C>T (p.Thr963=)
n.6804C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793295G>ACA184511CDH23c.6367G>A (p.Gly2123Arg)
c.6382G>A (p.Gly2128Arg)
c.6562G>A (p.Gly2188Arg)
c.6496G>A (p.Gly2166Arg)
c.6559G>A (p.Gly2187Arg)
c.6556G>A (p.Gly2186Arg)
c.6502G>A (p.Gly2168Arg)
c.6427G>A (p.Gly2143Arg)
c.6022G>A (p.Gly2008Arg)
c.5380G>A (p.Gly1794Arg)
c.2890G>A (p.Gly964Arg)
n.6805G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793295G>CCA377154590CDH23c.6367G>C (p.Gly2123Arg)
c.6382G>C (p.Gly2128Arg)
c.6562G>C (p.Gly2188Arg)
c.6496G>C (p.Gly2166Arg)
c.6559G>C (p.Gly2187Arg)
c.6556G>C (p.Gly2186Arg)
c.6502G>C (p.Gly2168Arg)
c.6427G>C (p.Gly2143Arg)
c.6022G>C (p.Gly2008Arg)
c.5380G>C (p.Gly1794Arg)
c.2890G>C (p.Gly964Arg)
n.6805G>C
10g.71793295G=CA1918874228CDH23c.6367G= (p.Gly2123=)
c.6382G= (p.Gly2128=)
c.6562G= (p.Gly2188=)
c.6496G= (p.Gly2166=)
c.6559G= (p.Gly2187=)
c.6556G= (p.Gly2186=)
c.6502G= (p.Gly2168=)
c.6427G= (p.Gly2143=)
c.6022G= (p.Gly2008=)
c.5380G= (p.Gly1794=)
c.2890G= (p.Gly964=)
n.6805G=
10g.71793295G>TCA377154592CDH23c.6367G>T (p.Gly2123Trp)
c.6382G>T (p.Gly2128Trp)
c.6562G>T (p.Gly2188Trp)
c.6496G>T (p.Gly2166Trp)
c.6559G>T (p.Gly2187Trp)
c.6556G>T (p.Gly2186Trp)
c.6502G>T (p.Gly2168Trp)
c.6427G>T (p.Gly2143Trp)
c.6022G>T (p.Gly2008Trp)
c.5380G>T (p.Gly1794Trp)
c.2890G>T (p.Gly964Trp)
n.6805G>T
 dbSNP
10g.71793296G>ACA377154595CDH23c.6368G>A (p.Gly2123Glu)
c.6383G>A (p.Gly2128Glu)
c.6563G>A (p.Gly2188Glu)
c.6497G>A (p.Gly2166Glu)
c.6560G>A (p.Gly2187Glu)
c.6557G>A (p.Gly2186Glu)
c.6503G>A (p.Gly2168Glu)
c.6428G>A (p.Gly2143Glu)
c.6023G>A (p.Gly2008Glu)
c.5381G>A (p.Gly1794Glu)
c.2891G>A (p.Gly964Glu)
n.6806G>A
 ClinVar dbSNP
10g.71793296G>CCA377154597CDH23c.6368G>C (p.Gly2123Ala)
c.6383G>C (p.Gly2128Ala)
c.6563G>C (p.Gly2188Ala)
c.6497G>C (p.Gly2166Ala)
c.6560G>C (p.Gly2187Ala)
c.6557G>C (p.Gly2186Ala)
c.6503G>C (p.Gly2168Ala)
c.6428G>C (p.Gly2143Ala)
c.6023G>C (p.Gly2008Ala)
c.5381G>C (p.Gly1794Ala)
c.2891G>C (p.Gly964Ala)
n.6806G>C
 dbSNP
10g.71793296G=CA1918874230CDH23c.6368G= (p.Gly2123=)
c.6383G= (p.Gly2128=)
c.6563G= (p.Gly2188=)
c.6497G= (p.Gly2166=)
c.6560G= (p.Gly2187=)
c.6557G= (p.Gly2186=)
c.6503G= (p.Gly2168=)
c.6428G= (p.Gly2143=)
c.6023G= (p.Gly2008=)
c.5381G= (p.Gly1794=)
c.2891G= (p.Gly964=)
n.6806G=
10g.71793296G>TCA377154599CDH23c.6368G>T (p.Gly2123Val)
c.6383G>T (p.Gly2128Val)
c.6563G>T (p.Gly2188Val)
c.6497G>T (p.Gly2166Val)
c.6560G>T (p.Gly2187Val)
c.6557G>T (p.Gly2186Val)
c.6503G>T (p.Gly2168Val)
c.6428G>T (p.Gly2143Val)
c.6023G>T (p.Gly2008Val)
c.5381G>T (p.Gly1794Val)
c.2891G>T (p.Gly964Val)
n.6806G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71793297G>ACA1918874232CDH23c.6369G>A (p.Gly2123=)
c.6384G>A (p.Gly2128=)
c.6564G>A (p.Gly2188=)
c.6498G>A (p.Gly2166=)
c.6561G>A (p.Gly2187=)
c.6558G>A (p.Gly2186=)
c.6504G>A (p.Gly2168=)
c.6429G>A (p.Gly2143=)
c.6024G>A (p.Gly2008=)
c.5382G>A (p.Gly1794=)
c.2892G>A (p.Gly964=)
n.6807G>A
 ClinVar dbSNP
10g.71793297G>CCA5546063CDH23c.6369G>C (p.Gly2123=)
c.6384G>C (p.Gly2128=)
c.6564G>C (p.Gly2188=)
c.6498G>C (p.Gly2166=)
c.6561G>C (p.Gly2187=)
c.6558G>C (p.Gly2186=)
c.6504G>C (p.Gly2168=)
c.6429G>C (p.Gly2143=)
c.6024G>C (p.Gly2008=)
c.5382G>C (p.Gly1794=)
c.2892G>C (p.Gly964=)
n.6807G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793297G=CA1918874231CDH23c.6369G= (p.Gly2123=)
c.6384G= (p.Gly2128=)
c.6564G= (p.Gly2188=)
c.6498G= (p.Gly2166=)
c.6561G= (p.Gly2187=)
c.6558G= (p.Gly2186=)
c.6504G= (p.Gly2168=)
c.6429G= (p.Gly2143=)
c.6024G= (p.Gly2008=)
c.5382G= (p.Gly1794=)
c.2892G= (p.Gly964=)
n.6807G=
10g.71793297G>TCA2499220349CDH23c.6369G>T (p.Gly2123=)
c.6384G>T (p.Gly2128=)
c.6564G>T (p.Gly2188=)
c.6498G>T (p.Gly2166=)
c.6561G>T (p.Gly2187=)
c.6558G>T (p.Gly2186=)
c.6504G>T (p.Gly2168=)
c.6429G>T (p.Gly2143=)
c.6024G>T (p.Gly2008=)
c.5382G>T (p.Gly1794=)
c.2892G>T (p.Gly964=)
n.6807G>T
 ClinVar dbSNP gnomAD v4
10g.71793298G>ACA377154613CDH23c.6370G>A (p.Val2124Ile)
c.6385G>A (p.Val2129Ile)
c.6565G>A (p.Val2189Ile)
c.6499G>A (p.Val2167Ile)
c.6562G>A (p.Val2188Ile)
c.6559G>A (p.Val2187Ile)
c.6505G>A (p.Val2169Ile)
c.6430G>A (p.Val2144Ile)
c.6025G>A (p.Val2009Ile)
c.5383G>A (p.Val1795Ile)
c.2893G>A (p.Val965Ile)
n.6808G>A
10g.71793298G>CCA377154615CDH23c.6370G>C (p.Val2124Leu)
c.6385G>C (p.Val2129Leu)
c.6565G>C (p.Val2189Leu)
c.6499G>C (p.Val2167Leu)
c.6562G>C (p.Val2188Leu)
c.6559G>C (p.Val2187Leu)
c.6505G>C (p.Val2169Leu)
c.6430G>C (p.Val2144Leu)
c.6025G>C (p.Val2009Leu)
c.5383G>C (p.Val1795Leu)
c.2893G>C (p.Val965Leu)
n.6808G>C
10g.71793298G>TCA377154610CDH23c.6370G>T (p.Val2124Phe)
c.6385G>T (p.Val2129Phe)
c.6565G>T (p.Val2189Phe)
c.6499G>T (p.Val2167Phe)
c.6562G>T (p.Val2188Phe)
c.6559G>T (p.Val2187Phe)
c.6505G>T (p.Val2169Phe)
c.6430G>T (p.Val2144Phe)
c.6025G>T (p.Val2009Phe)
c.5383G>T (p.Val1795Phe)
c.2893G>T (p.Val965Phe)
n.6808G>T
 gnomAD v4
10g.71793299T>ACA377154617CDH23c.6371T>A (p.Val2124Asp)
c.6386T>A (p.Val2129Asp)
c.6566T>A (p.Val2189Asp)
c.6500T>A (p.Val2167Asp)
c.6563T>A (p.Val2188Asp)
c.6560T>A (p.Val2187Asp)
c.6506T>A (p.Val2169Asp)
c.6431T>A (p.Val2144Asp)
c.6026T>A (p.Val2009Asp)
c.5384T>A (p.Val1795Asp)
c.2894T>A (p.Val965Asp)
n.6809T>A
10g.71793299T>CCA377154619CDH23c.6371T>C (p.Val2124Ala)
c.6386T>C (p.Val2129Ala)
c.6566T>C (p.Val2189Ala)
c.6500T>C (p.Val2167Ala)
c.6563T>C (p.Val2188Ala)
c.6560T>C (p.Val2187Ala)
c.6506T>C (p.Val2169Ala)
c.6431T>C (p.Val2144Ala)
c.6026T>C (p.Val2009Ala)
c.5384T>C (p.Val1795Ala)
c.2894T>C (p.Val965Ala)
n.6809T>C
10g.71793299T>GCA377154622CDH23c.6371T>G (p.Val2124Gly)
c.6386T>G (p.Val2129Gly)
c.6566T>G (p.Val2189Gly)
c.6500T>G (p.Val2167Gly)
c.6563T>G (p.Val2188Gly)
c.6560T>G (p.Val2187Gly)
c.6506T>G (p.Val2169Gly)
c.6431T>G (p.Val2144Gly)
c.6026T>G (p.Val2009Gly)
c.5384T>G (p.Val1795Gly)
c.2894T>G (p.Val965Gly)
n.6809T>G
10g.71793300C=CA1918874233CDH23c.6372C= (p.Val2124=)
c.6387C= (p.Val2129=)
c.6567C= (p.Val2189=)
c.6501C= (p.Val2167=)
c.6564C= (p.Val2188=)
c.6561C= (p.Val2187=)
c.6507C= (p.Val2169=)
c.6432C= (p.Val2144=)
c.6027C= (p.Val2009=)
c.5385C= (p.Val1795=)
c.2895C= (p.Val965=)
n.6810C=
10g.71793300C>GCA2722034577CDH23c.6372C>G (p.Val2124=)
c.6387C>G (p.Val2129=)
c.6567C>G (p.Val2189=)
c.6501C>G (p.Val2167=)
c.6564C>G (p.Val2188=)
c.6561C>G (p.Val2187=)
c.6507C>G (p.Val2169=)
c.6432C>G (p.Val2144=)
c.6027C>G (p.Val2009=)
c.5385C>G (p.Val1795=)
c.2895C>G (p.Val965=)
n.6810C>G
 dbSNP
10g.71793300C>TCA668105192CDH23c.6372C>T (p.Val2124=)
c.6387C>T (p.Val2129=)
c.6567C>T (p.Val2189=)
c.6501C>T (p.Val2167=)
c.6564C>T (p.Val2188=)
c.6561C>T (p.Val2187=)
c.6507C>T (p.Val2169=)
c.6432C>T (p.Val2144=)
c.6027C>T (p.Val2009=)
c.5385C>T (p.Val1795=)
c.2895C>T (p.Val965=)
n.6810C>T
 dbSNP
10g.71793301A>CCA377154623CDH23c.6373A>C (p.Ile2125Leu)
c.6388A>C (p.Ile2130Leu)
c.6568A>C (p.Ile2190Leu)
c.6502A>C (p.Ile2168Leu)
c.6565A>C (p.Ile2189Leu)
c.6562A>C (p.Ile2188Leu)
c.6508A>C (p.Ile2170Leu)
c.6433A>C (p.Ile2145Leu)
c.6028A>C (p.Ile2010Leu)
c.5386A>C (p.Ile1796Leu)
c.2896A>C (p.Ile966Leu)
n.6811A>C
10g.71793301A>GCA377154625CDH23c.6373A>G (p.Ile2125Val)
c.6388A>G (p.Ile2130Val)
c.6568A>G (p.Ile2190Val)
c.6502A>G (p.Ile2168Val)
c.6565A>G (p.Ile2189Val)
c.6562A>G (p.Ile2188Val)
c.6508A>G (p.Ile2170Val)
c.6433A>G (p.Ile2145Val)
c.6028A>G (p.Ile2010Val)
c.5386A>G (p.Ile1796Val)
c.2896A>G (p.Ile966Val)
n.6811A>G
 gnomAD v4
10g.71793301A>TCA377154628CDH23c.6373A>T (p.Ile2125Phe)
c.6388A>T (p.Ile2130Phe)
c.6568A>T (p.Ile2190Phe)
c.6502A>T (p.Ile2168Phe)
c.6565A>T (p.Ile2189Phe)
c.6562A>T (p.Ile2188Phe)
c.6508A>T (p.Ile2170Phe)
c.6433A>T (p.Ile2145Phe)
c.6028A>T (p.Ile2010Phe)
c.5386A>T (p.Ile1796Phe)
c.2896A>T (p.Ile966Phe)
n.6811A>T
 gnomAD v4
10g.71793302T>ACA377154630CDH23c.6374T>A (p.Ile2125Asn)
c.6389T>A (p.Ile2130Asn)
c.6569T>A (p.Ile2190Asn)
c.6503T>A (p.Ile2168Asn)
c.6566T>A (p.Ile2189Asn)
c.6563T>A (p.Ile2188Asn)
c.6509T>A (p.Ile2170Asn)
c.6434T>A (p.Ile2145Asn)
c.6029T>A (p.Ile2010Asn)
c.5387T>A (p.Ile1796Asn)
c.2897T>A (p.Ile966Asn)
n.6812T>A
10g.71793302T>CCA377154631CDH23c.6374T>C (p.Ile2125Thr)
c.6389T>C (p.Ile2130Thr)
c.6569T>C (p.Ile2190Thr)
c.6503T>C (p.Ile2168Thr)
c.6566T>C (p.Ile2189Thr)
c.6563T>C (p.Ile2188Thr)
c.6509T>C (p.Ile2170Thr)
c.6434T>C (p.Ile2145Thr)
c.6029T>C (p.Ile2010Thr)
c.5387T>C (p.Ile1796Thr)
c.2897T>C (p.Ile966Thr)
n.6812T>C
10g.71793302T>GCA377154633CDH23c.6374T>G (p.Ile2125Ser)
c.6389T>G (p.Ile2130Ser)
c.6569T>G (p.Ile2190Ser)
c.6503T>G (p.Ile2168Ser)
c.6566T>G (p.Ile2189Ser)
c.6563T>G (p.Ile2188Ser)
c.6509T>G (p.Ile2170Ser)
c.6434T>G (p.Ile2145Ser)
c.6029T>G (p.Ile2010Ser)
c.5387T>G (p.Ile1796Ser)
c.2897T>G (p.Ile966Ser)
n.6812T>G
10g.71793303C>ACA1139661502CDH23c.6375C>A (p.Ile2125=)
c.6390C>A (p.Ile2130=)
c.6570C>A (p.Ile2190=)
c.6504C>A (p.Ile2168=)
c.6567C>A (p.Ile2189=)
c.6564C>A (p.Ile2188=)
c.6510C>A (p.Ile2170=)
c.6435C>A (p.Ile2145=)
c.6030C>A (p.Ile2010=)
c.5388C>A (p.Ile1796=)
c.2898C>A (p.Ile966=)
n.6813C>A
 ClinVar dbSNP
10g.71793303C=CA1918874235CDH23c.6375C= (p.Ile2125=)
c.6390C= (p.Ile2130=)
c.6570C= (p.Ile2190=)
c.6504C= (p.Ile2168=)
c.6567C= (p.Ile2189=)
c.6564C= (p.Ile2188=)
c.6510C= (p.Ile2170=)
c.6435C= (p.Ile2145=)
c.6030C= (p.Ile2010=)
c.5388C= (p.Ile1796=)
c.2898C= (p.Ile966=)
n.6813C=
10g.71793303C>GCA209466039CDH23c.6375C>G (p.Ile2125Met)
c.6390C>G (p.Ile2130Met)
c.6570C>G (p.Ile2190Met)
c.6504C>G (p.Ile2168Met)
c.6567C>G (p.Ile2189Met)
c.6564C>G (p.Ile2188Met)
c.6510C>G (p.Ile2170Met)
c.6435C>G (p.Ile2145Met)
c.6030C>G (p.Ile2010Met)
c.5388C>G (p.Ile1796Met)
c.2898C>G (p.Ile966Met)
n.6813C>G
 dbSNP
10g.71793303C>TCA1918874236CDH23c.6375C>T (p.Ile2125=)
c.6390C>T (p.Ile2130=)
c.6570C>T (p.Ile2190=)
c.6504C>T (p.Ile2168=)
c.6567C>T (p.Ile2189=)
c.6564C>T (p.Ile2188=)
c.6510C>T (p.Ile2170=)
c.6435C>T (p.Ile2145=)
c.6030C>T (p.Ile2010=)
c.5388C>T (p.Ile1796=)
c.2898C>T (p.Ile966=)
n.6813C>T
 dbSNP
10g.71793304delCA2573145263CDH23c.6376del (p.Arg2126ValfsTer17)
c.6391del (p.Arg2131ValfsTer17)
c.6571del (p.Arg2191ValfsTer17)
c.6505del (p.Arg2169ValfsTer17)
c.6568del (p.Arg2190ValfsTer17)
c.6565del (p.Arg2189ValfsTer17)
c.6511del (p.Arg2171ValfsTer17)
c.6571del (p.Arg2191ValfsTer8)
c.6436del (p.Arg2146ValfsTer17)
c.6031del (p.Arg2011ValfsTer17)
c.5389del (p.Arg1797ValfsTer17)
c.2899del (p.Arg967ValfsTer17)
n.6814del
 ClinVar dbSNP
10g.71793304C>ACA377154638CDH23c.6376C>A (p.Arg2126Ser)
c.6391C>A (p.Arg2131Ser)
c.6571C>A (p.Arg2191Ser)
c.6505C>A (p.Arg2169Ser)
c.6568C>A (p.Arg2190Ser)
c.6565C>A (p.Arg2189Ser)
c.6511C>A (p.Arg2171Ser)
c.6436C>A (p.Arg2146Ser)
c.6031C>A (p.Arg2011Ser)
c.5389C>A (p.Arg1797Ser)
c.2899C>A (p.Arg967Ser)
n.6814C>A
 dbSNP gnomAD v3 gnomAD v4
10g.71793304C=CA1918874240CDH23c.6376C= (p.Arg2126=)
c.6391C= (p.Arg2131=)
c.6571C= (p.Arg2191=)
c.6505C= (p.Arg2169=)
c.6568C= (p.Arg2190=)
c.6565C= (p.Arg2189=)
c.6511C= (p.Arg2171=)
c.6436C= (p.Arg2146=)
c.6031C= (p.Arg2011=)
c.5389C= (p.Arg1797=)
c.2899C= (p.Arg967=)
n.6814C=
10g.71793304C>GCA377154640CDH23c.6376C>G (p.Arg2126Gly)
c.6391C>G (p.Arg2131Gly)
c.6571C>G (p.Arg2191Gly)
c.6505C>G (p.Arg2169Gly)
c.6568C>G (p.Arg2190Gly)
c.6565C>G (p.Arg2189Gly)
c.6511C>G (p.Arg2171Gly)
c.6436C>G (p.Arg2146Gly)
c.6031C>G (p.Arg2011Gly)
c.5389C>G (p.Arg1797Gly)
c.2899C>G (p.Arg967Gly)
n.6814C>G
 gnomAD v4
10g.71793304C>TCA5546064CDH23c.6376C>T (p.Arg2126Cys)
c.6391C>T (p.Arg2131Cys)
c.6571C>T (p.Arg2191Cys)
c.6505C>T (p.Arg2169Cys)
c.6568C>T (p.Arg2190Cys)
c.6565C>T (p.Arg2189Cys)
c.6511C>T (p.Arg2171Cys)
c.6436C>T (p.Arg2146Cys)
c.6031C>T (p.Arg2011Cys)
c.5389C>T (p.Arg1797Cys)
c.2899C>T (p.Arg967Cys)
n.6814C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793305G>ACA5546065CDH23c.6377G>A (p.Arg2126His)
c.6392G>A (p.Arg2131His)
c.6572G>A (p.Arg2191His)
c.6506G>A (p.Arg2169His)
c.6569G>A (p.Arg2190His)
c.6566G>A (p.Arg2189His)
c.6512G>A (p.Arg2171His)
c.6437G>A (p.Arg2146His)
c.6032G>A (p.Arg2011His)
c.5390G>A (p.Arg1797His)
c.2900G>A (p.Arg967His)
n.6815G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793305G>CCA377154645CDH23c.6377G>C (p.Arg2126Pro)
c.6392G>C (p.Arg2131Pro)
c.6572G>C (p.Arg2191Pro)
c.6506G>C (p.Arg2169Pro)
c.6569G>C (p.Arg2190Pro)
c.6566G>C (p.Arg2189Pro)
c.6512G>C (p.Arg2171Pro)
c.6437G>C (p.Arg2146Pro)
c.6032G>C (p.Arg2011Pro)
c.5390G>C (p.Arg1797Pro)
c.2900G>C (p.Arg967Pro)
n.6815G>C
10g.71793305G=CA1918874242CDH23c.6377G= (p.Arg2126=)
c.6392G= (p.Arg2131=)
c.6572G= (p.Arg2191=)
c.6506G= (p.Arg2169=)
c.6569G= (p.Arg2190=)
c.6566G= (p.Arg2189=)
c.6512G= (p.Arg2171=)
c.6437G= (p.Arg2146=)
c.6032G= (p.Arg2011=)
c.5390G= (p.Arg1797=)
c.2900G= (p.Arg967=)
n.6815G=
10g.71793305G>TCA377154647CDH23c.6377G>T (p.Arg2126Leu)
c.6392G>T (p.Arg2131Leu)
c.6572G>T (p.Arg2191Leu)
c.6506G>T (p.Arg2169Leu)
c.6569G>T (p.Arg2190Leu)
c.6566G>T (p.Arg2189Leu)
c.6512G>T (p.Arg2171Leu)
c.6437G>T (p.Arg2146Leu)
c.6032G>T (p.Arg2011Leu)
c.5390G>T (p.Arg1797Leu)
c.2900G>T (p.Arg967Leu)
n.6815G>T
10g.71793305delinsCGTCA2695199528CDH23c.6377delinsCGT (p.Arg2126ProfsTer18)
c.6392delinsCGT (p.Arg2131ProfsTer18)
c.6572delinsCGT (p.Arg2191ProfsTer18)
c.6506delinsCGT (p.Arg2169ProfsTer18)
c.6569delinsCGT (p.Arg2190ProfsTer18)
c.6566delinsCGT (p.Arg2189ProfsTer18)
c.6512delinsCGT (p.Arg2171ProfsTer18)
c.6572delinsCGT (p.Arg2191ProfsTer9)
c.6437delinsCGT (p.Arg2146ProfsTer18)
c.6032delinsCGT (p.Arg2011ProfsTer18)
c.5390delinsCGT (p.Arg1797ProfsTer18)
c.2900delinsCGT (p.Arg967ProfsTer18)
n.6815delinsCGT
 ClinVar
10g.71793306T>CCA2609580439CDH23c.6378T>C (p.Arg2126=)
c.6393T>C (p.Arg2131=)
c.6573T>C (p.Arg2191=)
c.6507T>C (p.Arg2169=)
c.6570T>C (p.Arg2190=)
c.6567T>C (p.Arg2189=)
c.6513T>C (p.Arg2171=)
c.6438T>C (p.Arg2146=)
c.6033T>C (p.Arg2011=)
c.5391T>C (p.Arg1797=)
c.2901T>C (p.Arg967=)
n.6816T>C
 gnomAD v4
10g.71793307G>ACA377154651CDH23c.6379G>A (p.Val2127Ile)
c.6394G>A (p.Val2132Ile)
c.6574G>A (p.Val2192Ile)
c.6508G>A (p.Val2170Ile)
c.6571G>A (p.Val2191Ile)
c.6568G>A (p.Val2190Ile)
c.6514G>A (p.Val2172Ile)
c.6439G>A (p.Val2147Ile)
c.6034G>A (p.Val2012Ile)
c.5392G>A (p.Val1798Ile)
c.2902G>A (p.Val968Ile)
n.6817G>A
 gnomAD v4
10g.71793307G>CCA377154653CDH23c.6379G>C (p.Val2127Leu)
c.6394G>C (p.Val2132Leu)
c.6574G>C (p.Val2192Leu)
c.6508G>C (p.Val2170Leu)
c.6571G>C (p.Val2191Leu)
c.6568G>C (p.Val2190Leu)
c.6514G>C (p.Val2172Leu)
c.6439G>C (p.Val2147Leu)
c.6034G>C (p.Val2012Leu)
c.5392G>C (p.Val1798Leu)
c.2902G>C (p.Val968Leu)
n.6817G>C
10g.71793307G=CA1918874245CDH23c.6379G= (p.Val2127=)
c.6394G= (p.Val2132=)
c.6574G= (p.Val2192=)
c.6508G= (p.Val2170=)
c.6571G= (p.Val2191=)
c.6568G= (p.Val2190=)
c.6514G= (p.Val2172=)
c.6439G= (p.Val2147=)
c.6034G= (p.Val2012=)
c.5392G= (p.Val1798=)
c.2902G= (p.Val968=)
n.6817G=
10g.71793307G>TCA5546066CDH23c.6379G>T (p.Val2127Phe)
c.6394G>T (p.Val2132Phe)
c.6574G>T (p.Val2192Phe)
c.6508G>T (p.Val2170Phe)
c.6571G>T (p.Val2191Phe)
c.6568G>T (p.Val2190Phe)
c.6514G>T (p.Val2172Phe)
c.6439G>T (p.Val2147Phe)
c.6034G>T (p.Val2012Phe)
c.5392G>T (p.Val1798Phe)
c.2902G>T (p.Val968Phe)
n.6817G>T
 ClinVar dbSNP ExAC gnomAD v4
10g.71793308T>ACA377154658CDH23c.6380T>A (p.Val2127Asp)
c.6395T>A (p.Val2132Asp)
c.6575T>A (p.Val2192Asp)
c.6509T>A (p.Val2170Asp)
c.6572T>A (p.Val2191Asp)
c.6569T>A (p.Val2190Asp)
c.6515T>A (p.Val2172Asp)
c.6440T>A (p.Val2147Asp)
c.6035T>A (p.Val2012Asp)
c.5393T>A (p.Val1798Asp)
c.2903T>A (p.Val968Asp)
n.6818T>A
10g.71793308T>CCA377154660CDH23c.6380T>C (p.Val2127Ala)
c.6395T>C (p.Val2132Ala)
c.6575T>C (p.Val2192Ala)
c.6509T>C (p.Val2170Ala)
c.6572T>C (p.Val2191Ala)
c.6569T>C (p.Val2190Ala)
c.6515T>C (p.Val2172Ala)
c.6440T>C (p.Val2147Ala)
c.6035T>C (p.Val2012Ala)
c.5393T>C (p.Val1798Ala)
c.2903T>C (p.Val968Ala)
n.6818T>C
 gnomAD v4
10g.71793308T>GCA377154663CDH23c.6380T>G (p.Val2127Gly)
c.6395T>G (p.Val2132Gly)
c.6575T>G (p.Val2192Gly)
c.6509T>G (p.Val2170Gly)
c.6572T>G (p.Val2191Gly)
c.6569T>G (p.Val2190Gly)
c.6515T>G (p.Val2172Gly)
c.6440T>G (p.Val2147Gly)
c.6035T>G (p.Val2012Gly)
c.5393T>G (p.Val1798Gly)
c.2903T>G (p.Val968Gly)
n.6818T>G
10g.71793309T>CCA594705919CDH23c.6381T>C (p.Val2127=)
c.6396T>C (p.Val2132=)
c.6576T>C (p.Val2192=)
c.6510T>C (p.Val2170=)
c.6573T>C (p.Val2191=)
c.6570T>C (p.Val2190=)
c.6516T>C (p.Val2172=)
c.6441T>C (p.Val2147=)
c.6036T>C (p.Val2012=)
c.5394T>C (p.Val1798=)
c.2904T>C (p.Val968=)
n.6819T>C
 dbSNP gnomAD v2 gnomAD v4
10g.71793309T=CA1918874247CDH23c.6381T= (p.Val2127=)
c.6396T= (p.Val2132=)
c.6576T= (p.Val2192=)
c.6510T= (p.Val2170=)
c.6573T= (p.Val2191=)
c.6570T= (p.Val2190=)
c.6516T= (p.Val2172=)
c.6441T= (p.Val2147=)
c.6036T= (p.Val2012=)
c.5394T= (p.Val1798=)
c.2904T= (p.Val968=)
n.6819T=
10g.71793310G>ACA377154667CDH23c.6382G>A (p.Gly2128Ser)
c.6397G>A (p.Gly2133Ser)
c.6577G>A (p.Gly2193Ser)
c.6511G>A (p.Gly2171Ser)
c.6574G>A (p.Gly2192Ser)
c.6571G>A (p.Gly2191Ser)
c.6517G>A (p.Gly2173Ser)
c.6577G>A (p.Ala2193Thr)
c.6442G>A (p.Gly2148Ser)
c.6037G>A (p.Gly2013Ser)
c.5395G>A (p.Gly1799Ser)
c.2905G>A (p.Gly969Ser)
n.6820G>A
 gnomAD v4
10g.71793310G>CCA377154669CDH23c.6382G>C (p.Gly2128Arg)
c.6397G>C (p.Gly2133Arg)
c.6577G>C (p.Gly2193Arg)
c.6511G>C (p.Gly2171Arg)
c.6574G>C (p.Gly2192Arg)
c.6571G>C (p.Gly2191Arg)
c.6517G>C (p.Gly2173Arg)
c.6577G>C (p.Ala2193Pro)
c.6442G>C (p.Gly2148Arg)
c.6037G>C (p.Gly2013Arg)
c.5395G>C (p.Gly1799Arg)
c.2905G>C (p.Gly969Arg)
n.6820G>C
10g.71793310G>TCA377154673CDH23c.6382G>T (p.Gly2128Cys)
c.6397G>T (p.Gly2133Cys)
c.6577G>T (p.Gly2193Cys)
c.6511G>T (p.Gly2171Cys)
c.6574G>T (p.Gly2192Cys)
c.6571G>T (p.Gly2191Cys)
c.6517G>T (p.Gly2173Cys)
c.6577G>T (p.Ala2193Ser)
c.6442G>T (p.Gly2148Cys)
c.6037G>T (p.Gly2013Cys)
c.5395G>T (p.Gly1799Cys)
c.2905G>T (p.Gly969Cys)
n.6820G>T
10g.71793311G>ACA377154675CDH23c.6383G>A (p.Gly2128Asp)
c.6398G>A (p.Gly2133Asp)
c.6578G>A (p.Gly2193Asp)
c.6512G>A (p.Gly2171Asp)
c.6575G>A (p.Gly2192Asp)
c.6572G>A (p.Gly2191Asp)
c.6518G>A (p.Gly2173Asp)
c.6577+1G>A (n.6577+1G>A)
c.6443G>A (p.Gly2148Asp)
c.6038G>A (p.Gly2013Asp)
c.5396G>A (p.Gly1799Asp)
c.2906G>A (p.Gly969Asp)
n.6821G>A
 dbSNP gnomAD v3 gnomAD v4
10g.71793311G>CCA377154677CDH23c.6383G>C (p.Gly2128Ala)
c.6398G>C (p.Gly2133Ala)
c.6578G>C (p.Gly2193Ala)
c.6512G>C (p.Gly2171Ala)
c.6575G>C (p.Gly2192Ala)
c.6572G>C (p.Gly2191Ala)
c.6518G>C (p.Gly2173Ala)
c.6577+1G>C (n.6577+1G>C)
c.6443G>C (p.Gly2148Ala)
c.6038G>C (p.Gly2013Ala)
c.5396G>C (p.Gly1799Ala)
c.2906G>C (p.Gly969Ala)
n.6821G>C
10g.71793311G=CA1918874248CDH23c.6383G= (p.Gly2128=)
c.6398G= (p.Gly2133=)
c.6578G= (p.Gly2193=)
c.6512G= (p.Gly2171=)
c.6575G= (p.Gly2192=)
c.6572G= (p.Gly2191=)
c.6518G= (p.Gly2173=)
c.6577+1G= (n.6577+1G=)
c.6443G= (p.Gly2148=)
c.6038G= (p.Gly2013=)
c.5396G= (p.Gly1799=)
c.2906G= (p.Gly969=)
n.6821G=
10g.71793311G>TCA377154679CDH23c.6383G>T (p.Gly2128Val)
c.6398G>T (p.Gly2133Val)
c.6578G>T (p.Gly2193Val)
c.6512G>T (p.Gly2171Val)
c.6575G>T (p.Gly2192Val)
c.6572G>T (p.Gly2191Val)
c.6518G>T (p.Gly2173Val)
c.6577+1G>T (n.6577+1G>T)
c.6443G>T (p.Gly2148Val)
c.6038G>T (p.Gly2013Val)
c.5396G>T (p.Gly1799Val)
c.2906G>T (p.Gly969Val)
n.6821G>T
10g.71793313A>CCA377154689CDH23c.6385A>C (p.Asn2129His)
c.6400A>C (p.Asn2134His)
c.6580A>C (p.Asn2194His)
c.6514A>C (p.Asn2172His)
c.6577A>C (p.Asn2193His)
c.6574A>C (p.Asn2192His)
c.6520A>C (p.Asn2174His)
c.6577+3A>C (n.6577+3A>C)
c.6445A>C (p.Asn2149His)
c.6040A>C (p.Asn2014His)
c.5398A>C (p.Asn1800His)
c.2908A>C (p.Asn970His)
n.6823A>C
10g.71793313A>GCA377154684CDH23c.6385A>G (p.Asn2129Asp)
c.6400A>G (p.Asn2134Asp)
c.6580A>G (p.Asn2194Asp)
c.6514A>G (p.Asn2172Asp)
c.6577A>G (p.Asn2193Asp)
c.6574A>G (p.Asn2192Asp)
c.6520A>G (p.Asn2174Asp)
c.6577+3A>G (n.6577+3A>G)
c.6445A>G (p.Asn2149Asp)
c.6040A>G (p.Asn2014Asp)
c.5398A>G (p.Asn1800Asp)
c.2908A>G (p.Asn970Asp)
n.6823A>G
10g.71793313A>TCA377154686CDH23c.6385A>T (p.Asn2129Tyr)
c.6400A>T (p.Asn2134Tyr)
c.6580A>T (p.Asn2194Tyr)
c.6514A>T (p.Asn2172Tyr)
c.6577A>T (p.Asn2193Tyr)
c.6574A>T (p.Asn2192Tyr)
c.6520A>T (p.Asn2174Tyr)
c.6577+3A>T (n.6577+3A>T)
c.6445A>T (p.Asn2149Tyr)
c.6040A>T (p.Asn2014Tyr)
c.5398A>T (p.Asn1800Tyr)
c.2908A>T (p.Asn970Tyr)
n.6823A>T
 COSMIC
10g.71793314A>CCA377154690CDH23c.6386A>C (p.Asn2129Thr)
c.6401A>C (p.Asn2134Thr)
c.6581A>C (p.Asn2194Thr)
c.6515A>C (p.Asn2172Thr)
c.6578A>C (p.Asn2193Thr)
c.6575A>C (p.Asn2192Thr)
c.6521A>C (p.Asn2174Thr)
c.6577+4A>C (n.6577+4A>C)
c.6446A>C (p.Asn2149Thr)
c.6041A>C (p.Asn2014Thr)
c.5399A>C (p.Asn1800Thr)
c.2909A>C (p.Asn970Thr)
n.6824A>C
10g.71793314A>GCA377154696CDH23c.6386A>G (p.Asn2129Ser)
c.6401A>G (p.Asn2134Ser)
c.6581A>G (p.Asn2194Ser)
c.6515A>G (p.Asn2172Ser)
c.6578A>G (p.Asn2193Ser)
c.6575A>G (p.Asn2192Ser)
c.6521A>G (p.Asn2174Ser)
c.6577+4A>G (n.6577+4A>G)
c.6446A>G (p.Asn2149Ser)
c.6041A>G (p.Asn2014Ser)
c.5399A>G (p.Asn1800Ser)
c.2909A>G (p.Asn970Ser)
n.6824A>G
10g.71793314A>TCA377154693CDH23c.6386A>T (p.Asn2129Ile)
c.6401A>T (p.Asn2134Ile)
c.6581A>T (p.Asn2194Ile)
c.6515A>T (p.Asn2172Ile)
c.6578A>T (p.Asn2193Ile)
c.6575A>T (p.Asn2192Ile)
c.6521A>T (p.Asn2174Ile)
c.6577+4A>T (n.6577+4A>T)
c.6446A>T (p.Asn2149Ile)
c.6041A>T (p.Asn2014Ile)
c.5399A>T (p.Asn1800Ile)
c.2909A>T (p.Asn970Ile)
n.6824A>T
10g.71793315T>ACA377154699CDH23c.6387T>A (p.Asn2129Lys)
c.6402T>A (p.Asn2134Lys)
c.6582T>A (p.Asn2194Lys)
c.6516T>A (p.Asn2172Lys)
c.6579T>A (p.Asn2193Lys)
c.6576T>A (p.Asn2192Lys)
c.6522T>A (p.Asn2174Lys)
c.6577+5T>A (n.6577+5T>A)
c.6447T>A (p.Asn2149Lys)
c.6042T>A (p.Asn2014Lys)
c.5400T>A (p.Asn1800Lys)
c.2910T>A (p.Asn970Lys)
n.6825T>A
10g.71793315T>CCA2499220350CDH23c.6387T>C (p.Asn2129=)
c.6402T>C (p.Asn2134=)
c.6582T>C (p.Asn2194=)
c.6516T>C (p.Asn2172=)
c.6579T>C (p.Asn2193=)
c.6576T>C (p.Asn2192=)
c.6522T>C (p.Asn2174=)
c.6577+5T>C (n.6577+5T>C)
c.6447T>C (p.Asn2149=)
c.6042T>C (p.Asn2014=)
c.5400T>C (p.Asn1800=)
c.2910T>C (p.Asn970=)
n.6825T>C
 ClinVar dbSNP
10g.71793315T>GCA377154701CDH23c.6387T>G (p.Asn2129Lys)
c.6402T>G (p.Asn2134Lys)
c.6582T>G (p.Asn2194Lys)
c.6516T>G (p.Asn2172Lys)
c.6579T>G (p.Asn2193Lys)
c.6576T>G (p.Asn2192Lys)
c.6522T>G (p.Asn2174Lys)
c.6577+5T>G (n.6577+5T>G)
c.6447T>G (p.Asn2149Lys)
c.6042T>G (p.Asn2014Lys)
c.5400T>G (p.Asn1800Lys)
c.2910T>G (p.Asn970Lys)
n.6825T>G
10g.71793316G>ACA377154704CDH23c.6388G>A (p.Ala2130Thr)
c.6403G>A (p.Ala2135Thr)
c.6583G>A (p.Ala2195Thr)
c.6517G>A (p.Ala2173Thr)
c.6580G>A (p.Ala2194Thr)
c.6577G>A (p.Ala2193Thr)
c.6523G>A (p.Ala2175Thr)
c.6577+6G>A (n.6577+6G>A)
c.6448G>A (p.Ala2150Thr)
c.6043G>A (p.Ala2015Thr)
c.5401G>A (p.Ala1801Thr)
c.2911G>A (p.Ala971Thr)
n.6826G>A
 dbSNP
10g.71793316G>CCA377154706CDH23c.6388G>C (p.Ala2130Pro)
c.6403G>C (p.Ala2135Pro)
c.6583G>C (p.Ala2195Pro)
c.6517G>C (p.Ala2173Pro)
c.6580G>C (p.Ala2194Pro)
c.6577G>C (p.Ala2193Pro)
c.6523G>C (p.Ala2175Pro)
c.6577+6G>C (n.6577+6G>C)
c.6448G>C (p.Ala2150Pro)
c.6043G>C (p.Ala2015Pro)
c.5401G>C (p.Ala1801Pro)
c.2911G>C (p.Ala971Pro)
n.6826G>C
10g.71793316G>TCA377154707CDH23c.6388G>T (p.Ala2130Ser)
c.6403G>T (p.Ala2135Ser)
c.6583G>T (p.Ala2195Ser)
c.6517G>T (p.Ala2173Ser)
c.6580G>T (p.Ala2194Ser)
c.6577G>T (p.Ala2193Ser)
c.6523G>T (p.Ala2175Ser)
c.6577+6G>T (n.6577+6G>T)
c.6448G>T (p.Ala2150Ser)
c.6043G>T (p.Ala2015Ser)
c.5401G>T (p.Ala1801Ser)
c.2911G>T (p.Ala971Ser)
n.6826G>T
10g.71793316_71793319delinsGCCACA1918874250CDH23c.6388_6391delinsGCCA (p.Ala2130=)
c.6403_6406delinsGCCA (p.Ala2135=)
c.6583_6586delinsGCCA (p.Ala2195=)
c.6517_6520delinsGCCA (p.Ala2173=)
c.6580_6583delinsGCCA (p.Ala2194=)
c.6577_6580delinsGCCA (p.Ala2193=)
c.6523_6526delinsGCCA (p.Ala2175=)
c.6577+6_6577+9delinsGCCA (n.6577+6_6577+9delinsGCCA)
c.6448_6451delinsGCCA (p.Ala2150=)
c.6043_6046delinsGCCA (p.Ala2015=)
c.5401_5404delinsGCCA (p.Ala1801=)
c.2911_2914delinsGCCA (p.Ala971=)
n.6826_6829delinsGCCA
10g.71793317C>ACA377154711CDH23c.6389C>A (p.Ala2130Asp)
c.6404C>A (p.Ala2135Asp)
c.6584C>A (p.Ala2195Asp)
c.6518C>A (p.Ala2173Asp)
c.6581C>A (p.Ala2194Asp)
c.6578C>A (p.Ala2193Asp)
c.6524C>A (p.Ala2175Asp)
c.6577+7C>A (n.6577+7C>A)
c.6449C>A (p.Ala2150Asp)
c.6044C>A (p.Ala2015Asp)
c.5402C>A (p.Ala1801Asp)
c.2912C>A (p.Ala971Asp)
n.6827C>A
10g.71793317C>GCA377154713CDH23c.6389C>G (p.Ala2130Gly)
c.6404C>G (p.Ala2135Gly)
c.6584C>G (p.Ala2195Gly)
c.6518C>G (p.Ala2173Gly)
c.6581C>G (p.Ala2194Gly)
c.6578C>G (p.Ala2193Gly)
c.6524C>G (p.Ala2175Gly)
c.6577+7C>G (n.6577+7C>G)
c.6449C>G (p.Ala2150Gly)
c.6044C>G (p.Ala2015Gly)
c.5402C>G (p.Ala1801Gly)
c.2912C>G (p.Ala971Gly)
n.6827C>G
10g.71793317C>TCA377154715CDH23c.6389C>T (p.Ala2130Val)
c.6404C>T (p.Ala2135Val)
c.6584C>T (p.Ala2195Val)
c.6518C>T (p.Ala2173Val)
c.6581C>T (p.Ala2194Val)
c.6578C>T (p.Ala2193Val)
c.6524C>T (p.Ala2175Val)
c.6577+7C>T (n.6577+7C>T)
c.6449C>T (p.Ala2150Val)
c.6044C>T (p.Ala2015Val)
c.5402C>T (p.Ala1801Val)
c.2912C>T (p.Ala971Val)
n.6827C>T
 ClinVar dbSNP
10g.71793320_71793322delCA5546067CDH23c.6392_6394del (p.Thr2131del)
c.6407_6409del (p.Thr2136del)
c.6587_6589del (p.Thr2196del)
c.6521_6523del (p.Thr2174del)
c.6584_6586del (p.Thr2195del)
c.6581_6583del (p.Thr2194del)
c.6527_6529del (p.Thr2176del)
c.6577+10_6577+12del (n.6577+10_6577+12del)
c.6452_6454del (p.Thr2151del)
c.6047_6049del (p.Thr2016del)
c.5405_5407del (p.Thr1802del)
c.2915_2917del (p.Thr972del)
n.6830_6832del
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793319A=CA1918874253CDH23c.6391A= (p.Thr2131=)
c.6406A= (p.Thr2136=)
c.6586A= (p.Thr2196=)
c.6520A= (p.Thr2174=)
c.6583A= (p.Thr2195=)
c.6580A= (p.Thr2194=)
c.6526A= (p.Thr2176=)
c.6577+9A= (n.6577+9A=)
c.6451A= (p.Thr2151=)
c.6046A= (p.Thr2016=)
c.5404A= (p.Thr1802=)
c.2914A= (p.Thr972=)
n.6829A=
10g.71793319A>CCA377154720CDH23c.6391A>C (p.Thr2131Pro)
c.6406A>C (p.Thr2136Pro)
c.6586A>C (p.Thr2196Pro)
c.6520A>C (p.Thr2174Pro)
c.6583A>C (p.Thr2195Pro)
c.6580A>C (p.Thr2194Pro)
c.6526A>C (p.Thr2176Pro)
c.6577+9A>C (n.6577+9A>C)
c.6451A>C (p.Thr2151Pro)
c.6046A>C (p.Thr2016Pro)
c.5404A>C (p.Thr1802Pro)
c.2914A>C (p.Thr972Pro)
n.6829A>C
10g.71793319A>GCA377154722CDH23c.6391A>G (p.Thr2131Ala)
c.6406A>G (p.Thr2136Ala)
c.6586A>G (p.Thr2196Ala)
c.6520A>G (p.Thr2174Ala)
c.6583A>G (p.Thr2195Ala)
c.6580A>G (p.Thr2194Ala)
c.6526A>G (p.Thr2176Ala)
c.6577+9A>G (n.6577+9A>G)
c.6451A>G (p.Thr2151Ala)
c.6046A>G (p.Thr2016Ala)
c.5404A>G (p.Thr1802Ala)
c.2914A>G (p.Thr972Ala)
n.6829A>G
 dbSNP gnomAD v3 gnomAD v4
10g.71793319A>TCA377154723CDH23c.6391A>T (p.Thr2131Ser)
c.6406A>T (p.Thr2136Ser)
c.6586A>T (p.Thr2196Ser)
c.6520A>T (p.Thr2174Ser)
c.6583A>T (p.Thr2195Ser)
c.6580A>T (p.Thr2194Ser)
c.6526A>T (p.Thr2176Ser)
c.6577+9A>T (n.6577+9A>T)
c.6451A>T (p.Thr2151Ser)
c.6046A>T (p.Thr2016Ser)
c.5404A>T (p.Thr1802Ser)
c.2914A>T (p.Thr972Ser)
n.6829A>T
10g.71793319_71793320delinsACCA1918874252CDH23c.6391_6392delinsAC (p.Thr2131=)
c.6406_6407delinsAC (p.Thr2136=)
c.6586_6587delinsAC (p.Thr2196=)
c.6520_6521delinsAC (p.Thr2174=)
c.6583_6584delinsAC (p.Thr2195=)
c.6580_6581delinsAC (p.Thr2194=)
c.6526_6527delinsAC (p.Thr2176=)
c.6577+9_6577+10delinsAC (n.6577+9_6577+10delinsAC)
c.6451_6452delinsAC (p.Thr2151=)
c.6046_6047delinsAC (p.Thr2016=)
c.5404_5405delinsAC (p.Thr1802=)
c.2914_2915delinsAC (p.Thr972=)
n.6829_6830delinsAC
10g.71793320C>ACA377154730CDH23c.6392C>A (p.Thr2131Asn)
c.6407C>A (p.Thr2136Asn)
c.6587C>A (p.Thr2196Asn)
c.6521C>A (p.Thr2174Asn)
c.6584C>A (p.Thr2195Asn)
c.6581C>A (p.Thr2194Asn)
c.6527C>A (p.Thr2176Asn)
c.6577+10C>A (n.6577+10C>A)
c.6452C>A (p.Thr2151Asn)
c.6047C>A (p.Thr2016Asn)
c.5405C>A (p.Thr1802Asn)
c.2915C>A (p.Thr972Asn)
n.6830C>A
10g.71793320C=CA1918874256CDH23c.6392C= (p.Thr2131=)
c.6407C= (p.Thr2136=)
c.6587C= (p.Thr2196=)
c.6521C= (p.Thr2174=)
c.6584C= (p.Thr2195=)
c.6581C= (p.Thr2194=)
c.6527C= (p.Thr2176=)
c.6577+10C= (n.6577+10C=)
c.6452C= (p.Thr2151=)
c.6047C= (p.Thr2016=)
c.5405C= (p.Thr1802=)
c.2915C= (p.Thr972=)
n.6830C=
10g.71793320C>GCA5546069CDH23c.6392C>G (p.Thr2131Ser)
c.6407C>G (p.Thr2136Ser)
c.6587C>G (p.Thr2196Ser)
c.6521C>G (p.Thr2174Ser)
c.6584C>G (p.Thr2195Ser)
c.6581C>G (p.Thr2194Ser)
c.6527C>G (p.Thr2176Ser)
c.6577+10C>G (n.6577+10C>G)
c.6452C>G (p.Thr2151Ser)
c.6047C>G (p.Thr2016Ser)
c.5405C>G (p.Thr1802Ser)
c.2915C>G (p.Thr972Ser)
n.6830C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793320C>TCA377154728CDH23c.6392C>T (p.Thr2131Ile)
c.6407C>T (p.Thr2136Ile)
c.6587C>T (p.Thr2196Ile)
c.6521C>T (p.Thr2174Ile)
c.6584C>T (p.Thr2195Ile)
c.6581C>T (p.Thr2194Ile)
c.6527C>T (p.Thr2176Ile)
c.6577+10C>T (n.6577+10C>T)
c.6452C>T (p.Thr2151Ile)
c.6047C>T (p.Thr2016Ile)
c.5405C>T (p.Thr1802Ile)
c.2915C>T (p.Thr972Ile)
n.6830C>T
 gnomAD v4
10g.71793321delCA5546068CDH23c.6393del (p.Ile2132SerfsTer11)
c.6408del (p.Ile2137SerfsTer11)
c.6588del (p.Ile2197SerfsTer11)
c.6522del (p.Ile2175SerfsTer11)
c.6585del (p.Ile2196SerfsTer11)
c.6582del (p.Ile2195SerfsTer11)
c.6528del (p.Ile2177SerfsTer11)
c.6577+11del (n.6577+11del)
c.6453del (p.Ile2152SerfsTer11)
c.6048del (p.Ile2017SerfsTer11)
c.5406del (p.Ile1803SerfsTer11)
c.2916del (p.Ile973SerfsTer11)
n.6831del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793320_71793321insACA2695212171CDH23c.6392_6393insA (p.Ile2132HisfsTer?)
c.6407_6408insA (p.Ile2137HisfsTer?)
c.6587_6588insA (p.Ile2197HisfsTer?)
c.6521_6522insA (p.Ile2175HisfsTer?)
c.6584_6585insA (p.Ile2196HisfsTer?)
c.6581_6582insA (p.Ile2195HisfsTer?)
c.6527_6528insA (p.Ile2177HisfsTer?)
c.6577+10_6577+11insA (n.6577+10_6577+11insA)
c.6452_6453insA (p.Ile2152HisfsTer?)
c.6047_6048insA (p.Ile2017HisfsTer?)
c.5405_5406insA (p.Ile1803HisfsTer?)
c.2915_2916insA (p.Ile973HisfsTer?)
n.6830_6831insA
10g.71793321C>GCA2609580476CDH23c.6393C>G (p.Thr2131=)
c.6408C>G (p.Thr2136=)
c.6588C>G (p.Thr2196=)
c.6522C>G (p.Thr2174=)
c.6585C>G (p.Thr2195=)
c.6582C>G (p.Thr2194=)
c.6528C>G (p.Thr2176=)
c.6577+11C>G (n.6577+11C>G)
c.6453C>G (p.Thr2151=)
c.6048C>G (p.Thr2016=)
c.5406C>G (p.Thr1802=)
c.2916C>G (p.Thr972=)
n.6831C>G
 gnomAD v4
10g.71793322A=CA1918874259CDH23c.6394A= (p.Ile2132=)
c.6409A= (p.Ile2137=)
c.6589A= (p.Ile2197=)
c.6523A= (p.Ile2175=)
c.6586A= (p.Ile2196=)
c.6583A= (p.Ile2195=)
c.6529A= (p.Ile2177=)
c.6577+12A= (n.6577+12A=)
c.6454A= (p.Ile2152=)
c.6049A= (p.Ile2017=)
c.5407A= (p.Ile1803=)
c.2917A= (p.Ile973=)
n.6832A=
10g.71793322A>CCA377154732CDH23c.6394A>C (p.Ile2132Leu)
c.6409A>C (p.Ile2137Leu)
c.6589A>C (p.Ile2197Leu)
c.6523A>C (p.Ile2175Leu)
c.6586A>C (p.Ile2196Leu)
c.6583A>C (p.Ile2195Leu)
c.6529A>C (p.Ile2177Leu)
c.6577+12A>C (n.6577+12A>C)
c.6454A>C (p.Ile2152Leu)
c.6049A>C (p.Ile2017Leu)
c.5407A>C (p.Ile1803Leu)
c.2917A>C (p.Ile973Leu)
n.6832A>C
10g.71793322A>GCA5546070CDH23c.6394A>G (p.Ile2132Val)
c.6409A>G (p.Ile2137Val)
c.6589A>G (p.Ile2197Val)
c.6523A>G (p.Ile2175Val)
c.6586A>G (p.Ile2196Val)
c.6583A>G (p.Ile2195Val)
c.6529A>G (p.Ile2177Val)
c.6577+12A>G (n.6577+12A>G)
c.6454A>G (p.Ile2152Val)
c.6049A>G (p.Ile2017Val)
c.5407A>G (p.Ile1803Val)
c.2917A>G (p.Ile973Val)
n.6832A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793322A>TCA377154736CDH23c.6394A>T (p.Ile2132Phe)
c.6409A>T (p.Ile2137Phe)
c.6589A>T (p.Ile2197Phe)
c.6523A>T (p.Ile2175Phe)
c.6586A>T (p.Ile2196Phe)
c.6583A>T (p.Ile2195Phe)
c.6529A>T (p.Ile2177Phe)
c.6577+12A>T (n.6577+12A>T)
c.6454A>T (p.Ile2152Phe)
c.6049A>T (p.Ile2017Phe)
c.5407A>T (p.Ile1803Phe)
c.2917A>T (p.Ile973Phe)
n.6832A>T
 gnomAD v4
10g.71793323T>ACA377154741CDH23c.6395T>A (p.Ile2132Asn)
c.6410T>A (p.Ile2137Asn)
c.6590T>A (p.Ile2197Asn)
c.6524T>A (p.Ile2175Asn)
c.6587T>A (p.Ile2196Asn)
c.6584T>A (p.Ile2195Asn)
c.6530T>A (p.Ile2177Asn)
c.6577+13T>A (n.6577+13T>A)
c.6455T>A (p.Ile2152Asn)
c.6050T>A (p.Ile2017Asn)
c.5408T>A (p.Ile1803Asn)
c.2918T>A (p.Ile973Asn)
n.6833T>A
10g.71793323T>CCA377154742CDH23c.6395T>C (p.Ile2132Thr)
c.6410T>C (p.Ile2137Thr)
c.6590T>C (p.Ile2197Thr)
c.6524T>C (p.Ile2175Thr)
c.6587T>C (p.Ile2196Thr)
c.6584T>C (p.Ile2195Thr)
c.6530T>C (p.Ile2177Thr)
c.6577+13T>C (n.6577+13T>C)
c.6455T>C (p.Ile2152Thr)
c.6050T>C (p.Ile2017Thr)
c.5408T>C (p.Ile1803Thr)
c.2918T>C (p.Ile973Thr)
n.6833T>C
10g.71793323T>GCA377154746CDH23c.6395T>G (p.Ile2132Ser)
c.6410T>G (p.Ile2137Ser)
c.6590T>G (p.Ile2197Ser)
c.6524T>G (p.Ile2175Ser)
c.6587T>G (p.Ile2196Ser)
c.6584T>G (p.Ile2195Ser)
c.6530T>G (p.Ile2177Ser)
c.6577+13T>G (n.6577+13T>G)
c.6455T>G (p.Ile2152Ser)
c.6050T>G (p.Ile2017Ser)
c.5408T>G (p.Ile1803Ser)
c.2918T>G (p.Ile973Ser)
n.6833T>G
10g.71793324delCA2695212172CDH23c.6396del (p.Ile2132MetfsTer11)
c.6411del (p.Ile2137MetfsTer11)
c.6591del (p.Ile2197MetfsTer11)
c.6525del (p.Ile2175MetfsTer11)
c.6588del (p.Ile2196MetfsTer11)
c.6585del (p.Ile2195MetfsTer11)
c.6531del (p.Ile2177MetfsTer11)
c.6577+14del (n.6577+14del)
c.6456del (p.Ile2152MetfsTer11)
c.6051del (p.Ile2017MetfsTer11)
c.5409del (p.Ile1803MetfsTer11)
c.2919del (p.Ile973MetfsTer11)
n.6834del
10g.71793324C>ACA2609580486CDH23c.6396C>A (p.Ile2132=)
c.6411C>A (p.Ile2137=)
c.6591C>A (p.Ile2197=)
c.6525C>A (p.Ile2175=)
c.6588C>A (p.Ile2196=)
c.6585C>A (p.Ile2195=)
c.6531C>A (p.Ile2177=)
c.6577+14C>A (n.6577+14C>A)
c.6456C>A (p.Ile2152=)
c.6051C>A (p.Ile2017=)
c.5409C>A (p.Ile1803=)
c.2919C>A (p.Ile973=)
n.6834C>A
 gnomAD v4
10g.71793324C=CA1918874260CDH23c.6396C= (p.Ile2132=)
c.6411C= (p.Ile2137=)
c.6591C= (p.Ile2197=)
c.6525C= (p.Ile2175=)
c.6588C= (p.Ile2196=)
c.6585C= (p.Ile2195=)
c.6531C= (p.Ile2177=)
c.6577+14C= (n.6577+14C=)
c.6456C= (p.Ile2152=)
c.6051C= (p.Ile2017=)
c.5409C= (p.Ile1803=)
c.2919C= (p.Ile973=)
n.6834C=
10g.71793324C>GCA377154751CDH23c.6396C>G (p.Ile2132Met)
c.6411C>G (p.Ile2137Met)
c.6591C>G (p.Ile2197Met)
c.6525C>G (p.Ile2175Met)
c.6588C>G (p.Ile2196Met)
c.6585C>G (p.Ile2195Met)
c.6531C>G (p.Ile2177Met)
c.6577+14C>G (n.6577+14C>G)
c.6456C>G (p.Ile2152Met)
c.6051C>G (p.Ile2017Met)
c.5409C>G (p.Ile1803Met)
c.2919C>G (p.Ile973Met)
n.6834C>G
 dbSNP gnomAD v4
10g.71793324C>TCA594705920CDH23c.6396C>T (p.Ile2132=)
c.6411C>T (p.Ile2137=)
c.6591C>T (p.Ile2197=)
c.6525C>T (p.Ile2175=)
c.6588C>T (p.Ile2196=)
c.6585C>T (p.Ile2195=)
c.6531C>T (p.Ile2177=)
c.6577+14C>T (n.6577+14C>T)
c.6456C>T (p.Ile2152=)
c.6051C>T (p.Ile2017=)
c.5409C>T (p.Ile1803=)
c.2919C>T (p.Ile973=)
n.6834C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793325G>ACA209466072CDH23c.6397G>A (p.Asp2133Asn)
c.6412G>A (p.Asp2138Asn)
c.6592G>A (p.Asp2198Asn)
c.6526G>A (p.Asp2176Asn)
c.6589G>A (p.Asp2197Asn)
c.6586G>A (p.Asp2196Asn)
c.6532G>A (p.Asp2178Asn)
c.6577+15G>A (n.6577+15G>A)
c.6457G>A (p.Asp2153Asn)
c.6052G>A (p.Asp2018Asn)
c.5410G>A (p.Asp1804Asn)
c.2920G>A (p.Asp974Asn)
n.6835G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793325G>CCA377154758CDH23c.6397G>C (p.Asp2133His)
c.6412G>C (p.Asp2138His)
c.6592G>C (p.Asp2198His)
c.6526G>C (p.Asp2176His)
c.6589G>C (p.Asp2197His)
c.6586G>C (p.Asp2196His)
c.6532G>C (p.Asp2178His)
c.6577+15G>C (n.6577+15G>C)
c.6457G>C (p.Asp2153His)
c.6052G>C (p.Asp2018His)
c.5410G>C (p.Asp1804His)
c.2920G>C (p.Asp974His)
n.6835G>C
 dbSNP
10g.71793325G=CA1918874262CDH23c.6397G= (p.Asp2133=)
c.6412G= (p.Asp2138=)
c.6592G= (p.Asp2198=)
c.6526G= (p.Asp2176=)
c.6589G= (p.Asp2197=)
c.6586G= (p.Asp2196=)
c.6532G= (p.Asp2178=)
c.6577+15G= (n.6577+15G=)
c.6457G= (p.Asp2153=)
c.6052G= (p.Asp2018=)
c.5410G= (p.Asp1804=)
c.2920G= (p.Asp974=)
n.6835G=
10g.71793325G>TCA377154762CDH23c.6397G>T (p.Asp2133Tyr)
c.6412G>T (p.Asp2138Tyr)
c.6592G>T (p.Asp2198Tyr)
c.6526G>T (p.Asp2176Tyr)
c.6589G>T (p.Asp2197Tyr)
c.6586G>T (p.Asp2196Tyr)
c.6532G>T (p.Asp2178Tyr)
c.6577+15G>T (n.6577+15G>T)
c.6457G>T (p.Asp2153Tyr)
c.6052G>T (p.Asp2018Tyr)
c.5410G>T (p.Asp1804Tyr)
c.2920G>T (p.Asp974Tyr)
n.6835G>T
10g.71793326A>CCA377154776CDH23c.6398A>C (p.Asp2133Ala)
c.6413A>C (p.Asp2138Ala)
c.6593A>C (p.Asp2198Ala)
c.6527A>C (p.Asp2176Ala)
c.6590A>C (p.Asp2197Ala)
c.6587A>C (p.Asp2196Ala)
c.6533A>C (p.Asp2178Ala)
c.6577+16A>C (n.6577+16A>C)
c.6458A>C (p.Asp2153Ala)
c.6053A>C (p.Asp2018Ala)
c.5411A>C (p.Asp1804Ala)
c.2921A>C (p.Asp974Ala)
n.6836A>C
10g.71793326A>GCA377154767CDH23c.6398A>G (p.Asp2133Gly)
c.6413A>G (p.Asp2138Gly)
c.6593A>G (p.Asp2198Gly)
c.6527A>G (p.Asp2176Gly)
c.6590A>G (p.Asp2197Gly)
c.6587A>G (p.Asp2196Gly)
c.6533A>G (p.Asp2178Gly)
c.6577+16A>G (n.6577+16A>G)
c.6458A>G (p.Asp2153Gly)
c.6053A>G (p.Asp2018Gly)
c.5411A>G (p.Asp1804Gly)
c.2921A>G (p.Asp974Gly)
n.6836A>G
10g.71793326A>TCA377154764CDH23c.6398A>T (p.Asp2133Val)
c.6413A>T (p.Asp2138Val)
c.6593A>T (p.Asp2198Val)
c.6527A>T (p.Asp2176Val)
c.6590A>T (p.Asp2197Val)
c.6587A>T (p.Asp2196Val)
c.6533A>T (p.Asp2178Val)
c.6577+16A>T (n.6577+16A>T)
c.6458A>T (p.Asp2153Val)
c.6053A>T (p.Asp2018Val)
c.5411A>T (p.Asp1804Val)
c.2921A>T (p.Asp974Val)
n.6836A>T
10g.71793327C>ACA377154783CDH23c.6399C>A (p.Asp2133Glu)
c.6414C>A (p.Asp2138Glu)
c.6594C>A (p.Asp2198Glu)
c.6528C>A (p.Asp2176Glu)
c.6591C>A (p.Asp2197Glu)
c.6588C>A (p.Asp2196Glu)
c.6534C>A (p.Asp2178Glu)
c.6577+17C>A (n.6577+17C>A)
c.6459C>A (p.Asp2153Glu)
c.6054C>A (p.Asp2018Glu)
c.5412C>A (p.Asp1804Glu)
c.2922C>A (p.Asp974Glu)
n.6837C>A
10g.71793327C>GCA377154780CDH23c.6399C>G (p.Asp2133Glu)
c.6414C>G (p.Asp2138Glu)
c.6594C>G (p.Asp2198Glu)
c.6528C>G (p.Asp2176Glu)
c.6591C>G (p.Asp2197Glu)
c.6588C>G (p.Asp2196Glu)
c.6534C>G (p.Asp2178Glu)
c.6577+17C>G (n.6577+17C>G)
c.6459C>G (p.Asp2153Glu)
c.6054C>G (p.Asp2018Glu)
c.5412C>G (p.Asp1804Glu)
c.2922C>G (p.Asp974Glu)
n.6837C>G
10g.71793327C>TCA2573145264CDH23c.6399C>T (p.Asp2133=)
c.6414C>T (p.Asp2138=)
c.6594C>T (p.Asp2198=)
c.6528C>T (p.Asp2176=)
c.6591C>T (p.Asp2197=)
c.6588C>T (p.Asp2196=)
c.6534C>T (p.Asp2178=)
c.6577+17C>T (n.6577+17C>T)
c.6459C>T (p.Asp2153=)
c.6054C>T (p.Asp2018=)
c.5412C>T (p.Asp1804=)
c.2922C>T (p.Asp974=)
n.6837C>T
 ClinVar dbSNP
10g.71793327_71793331delinsCAGAGCA1918874263CDH23c.6399_6403delinsCAGAG (p.Asp2133=)
c.6414_6418delinsCAGAG (p.Asp2138=)
c.6594_6598delinsCAGAG (p.Asp2198=)
c.6528_6532delinsCAGAG (p.Asp2176=)
c.6591_6595delinsCAGAG (p.Asp2197=)
c.6588_6592delinsCAGAG (p.Asp2196=)
c.6534_6538delinsCAGAG (p.Asp2178=)
c.6577+17_6577+21delinsCAGAG (n.6577+17_6577+21delinsCAGAG)
c.6459_6463delinsCAGAG (p.Asp2153=)
c.6054_6058delinsCAGAG (p.Asp2018=)
c.5412_5416delinsCAGAG (p.Asp1804=)
c.2922_2926delinsCAGAG (p.Asp974=)
n.6837_6841delinsCAGAG
10g.71793328A=CA1918874265CDH23c.6400A= (p.Arg2134=)
c.6415A= (p.Arg2139=)
c.6595A= (p.Arg2199=)
c.6529A= (p.Arg2177=)
c.6592A= (p.Arg2198=)
c.6589A= (p.Arg2197=)
c.6535A= (p.Arg2179=)
c.6577+18A= (n.6577+18A=)
c.6460A= (p.Arg2154=)
c.6055A= (p.Arg2019=)
c.5413A= (p.Arg1805=)
c.2923A= (p.Arg975=)
n.6838A=
10g.71793328A>GCA5546071CDH23c.6400A>G (p.Arg2134Gly)
c.6415A>G (p.Arg2139Gly)
c.6595A>G (p.Arg2199Gly)
c.6529A>G (p.Arg2177Gly)
c.6592A>G (p.Arg2198Gly)
c.6589A>G (p.Arg2197Gly)
c.6535A>G (p.Arg2179Gly)
c.6577+18A>G (n.6577+18A>G)
c.6460A>G (p.Arg2154Gly)
c.6055A>G (p.Arg2019Gly)
c.5413A>G (p.Arg1805Gly)
c.2923A>G (p.Arg975Gly)
n.6838A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793328A>TCA377154789CDH23c.6400A>T (p.Arg2134Ter)
c.6415A>T (p.Arg2139Ter)
c.6595A>T (p.Arg2199Ter)
c.6529A>T (p.Arg2177Ter)
c.6592A>T (p.Arg2198Ter)
c.6589A>T (p.Arg2197Ter)
c.6535A>T (p.Arg2179Ter)
c.6577+18A>T (n.6577+18A>T)
c.6460A>T (p.Arg2154Ter)
c.6055A>T (p.Arg2019Ter)
c.5413A>T (p.Arg1805Ter)
c.2923A>T (p.Arg975Ter)
n.6838A>T
 dbSNP
10g.71793332_71793333delCA2609580497CDH23c.6404_6405del (p.Glu2135GlyfsTer?)
c.6419_6420del (p.Glu2140GlyfsTer?)
c.6599_6600del (p.Glu2200GlyfsTer?)
c.6533_6534del (p.Glu2178GlyfsTer?)
c.6596_6597del (p.Glu2199GlyfsTer?)
c.6593_6594del (p.Glu2198GlyfsTer?)
c.6539_6540del (p.Glu2180GlyfsTer?)
c.6577+22_6577+23del (n.6577+22_6577+23del)
c.6464_6465del (p.Glu2155GlyfsTer?)
c.6059_6060del (p.Glu2020GlyfsTer?)
c.5417_5418del (p.Glu1806GlyfsTer?)
c.2927_2928del (p.Glu976GlyfsTer?)
n.6842_6843del
 gnomAD v4
10g.71793330_71793333delCA10603042CDH23c.6402_6405del (p.Glu2135SerfsTer7)
c.6417_6420del (p.Glu2140SerfsTer7)
c.6597_6600del (p.Glu2200SerfsTer7)
c.6531_6534del (p.Glu2178SerfsTer7)
c.6594_6597del (p.Glu2199SerfsTer7)
c.6591_6594del (p.Glu2198SerfsTer7)
c.6537_6540del (p.Glu2180SerfsTer7)
c.6577+20_6577+23del (n.6577+20_6577+23del)
c.6462_6465del (p.Glu2155SerfsTer7)
c.6057_6060del (p.Glu2020SerfsTer7)
c.5415_5418del (p.Glu1806SerfsTer7)
c.2925_2928del (p.Glu976SerfsTer7)
n.6840_6843del
 ClinVar dbSNP
10g.71793329G>ACA377154796CDH23c.6401G>A (p.Arg2134Lys)
c.6416G>A (p.Arg2139Lys)
c.6596G>A (p.Arg2199Lys)
c.6530G>A (p.Arg2177Lys)
c.6593G>A (p.Arg2198Lys)
c.6590G>A (p.Arg2197Lys)
c.6536G>A (p.Arg2179Lys)
c.6577+19G>A (n.6577+19G>A)
c.6461G>A (p.Arg2154Lys)
c.6056G>A (p.Arg2019Lys)
c.5414G>A (p.Arg1805Lys)
c.2924G>A (p.Arg975Lys)
n.6839G>A
10g.71793329G>CCA377154802CDH23c.6401G>C (p.Arg2134Thr)
c.6416G>C (p.Arg2139Thr)
c.6596G>C (p.Arg2199Thr)
c.6530G>C (p.Arg2177Thr)
c.6593G>C (p.Arg2198Thr)
c.6590G>C (p.Arg2197Thr)
c.6536G>C (p.Arg2179Thr)
c.6577+19G>C (n.6577+19G>C)
c.6461G>C (p.Arg2154Thr)
c.6056G>C (p.Arg2019Thr)
c.5414G>C (p.Arg1805Thr)
c.2924G>C (p.Arg975Thr)
n.6839G>C
10g.71793329G>TCA377154805CDH23c.6401G>T (p.Arg2134Ile)
c.6416G>T (p.Arg2139Ile)
c.6596G>T (p.Arg2199Ile)
c.6530G>T (p.Arg2177Ile)
c.6593G>T (p.Arg2198Ile)
c.6590G>T (p.Arg2197Ile)
c.6536G>T (p.Arg2179Ile)
c.6577+19G>T (n.6577+19G>T)
c.6461G>T (p.Arg2154Ile)
c.6056G>T (p.Arg2019Ile)
c.5414G>T (p.Arg1805Ile)
c.2924G>T (p.Arg975Ile)
n.6839G>T
10g.71793330A>CCA377154809CDH23c.6402A>C (p.Arg2134Ser)
c.6417A>C (p.Arg2139Ser)
c.6597A>C (p.Arg2199Ser)
c.6531A>C (p.Arg2177Ser)
c.6594A>C (p.Arg2198Ser)
c.6591A>C (p.Arg2197Ser)
c.6537A>C (p.Arg2179Ser)
c.6577+20A>C (n.6577+20A>C)
c.6462A>C (p.Arg2154Ser)
c.6057A>C (p.Arg2019Ser)
c.5415A>C (p.Arg1805Ser)
c.2925A>C (p.Arg975Ser)
n.6840A>C
10g.71793330A>TCA377154813CDH23c.6402A>T (p.Arg2134Ser)
c.6417A>T (p.Arg2139Ser)
c.6597A>T (p.Arg2199Ser)
c.6531A>T (p.Arg2177Ser)
c.6594A>T (p.Arg2198Ser)
c.6591A>T (p.Arg2197Ser)
c.6537A>T (p.Arg2179Ser)
c.6577+20A>T (n.6577+20A>T)
c.6462A>T (p.Arg2154Ser)
c.6057A>T (p.Arg2019Ser)
c.5415A>T (p.Arg1805Ser)
c.2925A>T (p.Arg975Ser)
n.6840A>T
10g.71793331G>ACA377154817CDH23c.6403G>A (p.Glu2135Lys)
c.6418G>A (p.Glu2140Lys)
c.6598G>A (p.Glu2200Lys)
c.6532G>A (p.Glu2178Lys)
c.6595G>A (p.Glu2199Lys)
c.6592G>A (p.Glu2198Lys)
c.6538G>A (p.Glu2180Lys)
c.6577+21G>A (n.6577+21G>A)
c.6463G>A (p.Glu2155Lys)
c.6058G>A (p.Glu2020Lys)
c.5416G>A (p.Glu1806Lys)
c.2926G>A (p.Glu976Lys)
n.6841G>A
10g.71793331G>CCA377154819CDH23c.6403G>C (p.Glu2135Gln)
c.6418G>C (p.Glu2140Gln)
c.6598G>C (p.Glu2200Gln)
c.6532G>C (p.Glu2178Gln)
c.6595G>C (p.Glu2199Gln)
c.6592G>C (p.Glu2198Gln)
c.6538G>C (p.Glu2180Gln)
c.6577+21G>C (n.6577+21G>C)
c.6463G>C (p.Glu2155Gln)
c.6058G>C (p.Glu2020Gln)
c.5416G>C (p.Glu1806Gln)
c.2926G>C (p.Glu976Gln)
n.6841G>C
 COSMIC
10g.71793331G>TCA377154827CDH23c.6403G>T (p.Glu2135Ter)
c.6418G>T (p.Glu2140Ter)
c.6598G>T (p.Glu2200Ter)
c.6532G>T (p.Glu2178Ter)
c.6595G>T (p.Glu2199Ter)
c.6592G>T (p.Glu2198Ter)
c.6538G>T (p.Glu2180Ter)
c.6577+21G>T (n.6577+21G>T)
c.6463G>T (p.Glu2155Ter)
c.6058G>T (p.Glu2020Ter)
c.5416G>T (p.Glu1806Ter)
c.2926G>T (p.Glu976Ter)
n.6841G>T
10g.71793332A=CA1918874267CDH23c.6404A= (p.Glu2135=)
c.6419A= (p.Glu2140=)
c.6599A= (p.Glu2200=)
c.6533A= (p.Glu2178=)
c.6596A= (p.Glu2199=)
c.6593A= (p.Glu2198=)
c.6539A= (p.Glu2180=)
c.6577+22A= (n.6577+22A=)
c.6464A= (p.Glu2155=)
c.6059A= (p.Glu2020=)
c.5417A= (p.Glu1806=)
c.2927A= (p.Glu976=)
n.6842A=
10g.71793332A>CCA377154835CDH23c.6404A>C (p.Glu2135Ala)
c.6419A>C (p.Glu2140Ala)
c.6599A>C (p.Glu2200Ala)
c.6533A>C (p.Glu2178Ala)
c.6596A>C (p.Glu2199Ala)
c.6593A>C (p.Glu2198Ala)
c.6539A>C (p.Glu2180Ala)
c.6577+22A>C (n.6577+22A>C)
c.6464A>C (p.Glu2155Ala)
c.6059A>C (p.Glu2020Ala)
c.5417A>C (p.Glu1806Ala)
c.2927A>C (p.Glu976Ala)
n.6842A>C
10g.71793332A>GCA377154832CDH23c.6404A>G (p.Glu2135Gly)
c.6419A>G (p.Glu2140Gly)
c.6599A>G (p.Glu2200Gly)
c.6533A>G (p.Glu2178Gly)
c.6596A>G (p.Glu2199Gly)
c.6593A>G (p.Glu2198Gly)
c.6539A>G (p.Glu2180Gly)
c.6577+22A>G (n.6577+22A>G)
c.6464A>G (p.Glu2155Gly)
c.6059A>G (p.Glu2020Gly)
c.5417A>G (p.Glu1806Gly)
c.2927A>G (p.Glu976Gly)
n.6842A>G
 dbSNP
10g.71793332A>TCA377154830CDH23c.6404A>T (p.Glu2135Val)
c.6419A>T (p.Glu2140Val)
c.6599A>T (p.Glu2200Val)
c.6533A>T (p.Glu2178Val)
c.6596A>T (p.Glu2199Val)
c.6593A>T (p.Glu2198Val)
c.6539A>T (p.Glu2180Val)
c.6577+22A>T (n.6577+22A>T)
c.6464A>T (p.Glu2155Val)
c.6059A>T (p.Glu2020Val)
c.5417A>T (p.Glu1806Val)
c.2927A>T (p.Glu976Val)
n.6842A>T
10g.71793333G>ACA1918874269CDH23c.6405G>A (p.Glu2135=)
c.6420G>A (p.Glu2140=)
c.6600G>A (p.Glu2200=)
c.6534G>A (p.Glu2178=)
c.6597G>A (p.Glu2199=)
c.6594G>A (p.Glu2198=)
c.6540G>A (p.Glu2180=)
c.6577+23G>A (n.6577+23G>A)
c.6465G>A (p.Glu2155=)
c.6060G>A (p.Glu2020=)
c.5418G>A (p.Glu1806=)
c.2928G>A (p.Glu976=)
n.6843G>A
 ClinVar dbSNP gnomAD v4
10g.71793333G>CCA377154839CDH23c.6405G>C (p.Glu2135Asp)
c.6420G>C (p.Glu2140Asp)
c.6600G>C (p.Glu2200Asp)
c.6534G>C (p.Glu2178Asp)
c.6597G>C (p.Glu2199Asp)
c.6594G>C (p.Glu2198Asp)
c.6540G>C (p.Glu2180Asp)
c.6577+23G>C (n.6577+23G>C)
c.6465G>C (p.Glu2155Asp)
c.6060G>C (p.Glu2020Asp)
c.5418G>C (p.Glu1806Asp)
c.2928G>C (p.Glu976Asp)
n.6843G>C
10g.71793333G=CA1918874268CDH23c.6405G= (p.Glu2135=)
c.6420G= (p.Glu2140=)
c.6600G= (p.Glu2200=)
c.6534G= (p.Glu2178=)
c.6597G= (p.Glu2199=)
c.6594G= (p.Glu2198=)
c.6540G= (p.Glu2180=)
c.6577+23G= (n.6577+23G=)
c.6465G= (p.Glu2155=)
c.6060G= (p.Glu2020=)
c.5418G= (p.Glu1806=)
c.2928G= (p.Glu976=)
n.6843G=
10g.71793333G>TCA377154843CDH23c.6405G>T (p.Glu2135Asp)
c.6420G>T (p.Glu2140Asp)
c.6600G>T (p.Glu2200Asp)
c.6534G>T (p.Glu2178Asp)
c.6597G>T (p.Glu2199Asp)
c.6594G>T (p.Glu2198Asp)
c.6540G>T (p.Glu2180Asp)
c.6577+23G>T (n.6577+23G>T)
c.6465G>T (p.Glu2155Asp)
c.6060G>T (p.Glu2020Asp)
c.5418G>T (p.Glu1806Asp)
c.2928G>T (p.Glu976Asp)
n.6843G>T
 COSMIC
10g.71793334G>ACA377154848CDH23c.6406G>A (p.Glu2136Lys)
c.6421G>A (p.Glu2141Lys)
c.6601G>A (p.Glu2201Lys)
c.6535G>A (p.Glu2179Lys)
c.6598G>A (p.Glu2200Lys)
c.6595G>A (p.Glu2199Lys)
c.6541G>A (p.Glu2181Lys)
c.6577+24G>A (n.6577+24G>A)
c.6466G>A (p.Glu2156Lys)
c.6061G>A (p.Glu2021Lys)
c.5419G>A (p.Glu1807Lys)
c.2929G>A (p.Glu977Lys)
n.6844G>A
10g.71793334G>CCA377154850CDH23c.6406G>C (p.Glu2136Gln)
c.6421G>C (p.Glu2141Gln)
c.6601G>C (p.Glu2201Gln)
c.6535G>C (p.Glu2179Gln)
c.6598G>C (p.Glu2200Gln)
c.6595G>C (p.Glu2199Gln)
c.6541G>C (p.Glu2181Gln)
c.6577+24G>C (n.6577+24G>C)
c.6466G>C (p.Glu2156Gln)
c.6061G>C (p.Glu2021Gln)
c.5419G>C (p.Glu1807Gln)
c.2929G>C (p.Glu977Gln)
n.6844G>C
10g.71793334G=CA1918874270CDH23c.6406G= (p.Glu2136=)
c.6421G= (p.Glu2141=)
c.6601G= (p.Glu2201=)
c.6535G= (p.Glu2179=)
c.6598G= (p.Glu2200=)
c.6595G= (p.Glu2199=)
c.6541G= (p.Glu2181=)
c.6577+24G= (n.6577+24G=)
c.6466G= (p.Glu2156=)
c.6061G= (p.Glu2021=)
c.5419G= (p.Glu1807=)
c.2929G= (p.Glu977=)
n.6844G=
10g.71793334G>TCA209466073CDH23c.6406G>T (p.Glu2136Ter)
c.6421G>T (p.Glu2141Ter)
c.6601G>T (p.Glu2201Ter)
c.6535G>T (p.Glu2179Ter)
c.6598G>T (p.Glu2200Ter)
c.6595G>T (p.Glu2199Ter)
c.6541G>T (p.Glu2181Ter)
c.6577+24G>T (n.6577+24G>T)
c.6466G>T (p.Glu2156Ter)
c.6061G>T (p.Glu2021Ter)
c.5419G>T (p.Glu1807Ter)
c.2929G>T (p.Glu977Ter)
n.6844G>T
 dbSNP
10g.71793335A>CCA377154852CDH23c.6407A>C (p.Glu2136Ala)
c.6422A>C (p.Glu2141Ala)
c.6602A>C (p.Glu2201Ala)
c.6536A>C (p.Glu2179Ala)
c.6599A>C (p.Glu2200Ala)
c.6596A>C (p.Glu2199Ala)
c.6542A>C (p.Glu2181Ala)
c.6577+25A>C (n.6577+25A>C)
c.6467A>C (p.Glu2156Ala)
c.6062A>C (p.Glu2021Ala)
c.5420A>C (p.Glu1807Ala)
c.2930A>C (p.Glu977Ala)
n.6845A>C
10g.71793335A>GCA377154856CDH23c.6407A>G (p.Glu2136Gly)
c.6422A>G (p.Glu2141Gly)
c.6602A>G (p.Glu2201Gly)
c.6536A>G (p.Glu2179Gly)
c.6599A>G (p.Glu2200Gly)
c.6596A>G (p.Glu2199Gly)
c.6542A>G (p.Glu2181Gly)
c.6577+25A>G (n.6577+25A>G)
c.6467A>G (p.Glu2156Gly)
c.6062A>G (p.Glu2021Gly)
c.5420A>G (p.Glu1807Gly)
c.2930A>G (p.Glu977Gly)
n.6845A>G
10g.71793335A>TCA377154857CDH23c.6407A>T (p.Glu2136Val)
c.6422A>T (p.Glu2141Val)
c.6602A>T (p.Glu2201Val)
c.6536A>T (p.Glu2179Val)
c.6599A>T (p.Glu2200Val)
c.6596A>T (p.Glu2199Val)
c.6542A>T (p.Glu2181Val)
c.6577+25A>T (n.6577+25A>T)
c.6467A>T (p.Glu2156Val)
c.6062A>T (p.Glu2021Val)
c.5420A>T (p.Glu1807Val)
c.2930A>T (p.Glu977Val)
n.6845A>T
10g.71793336G>ACA2722285805CDH23c.6408G>A (p.Glu2136=)
c.6423G>A (p.Glu2141=)
c.6603G>A (p.Glu2201=)
c.6537G>A (p.Glu2179=)
c.6600G>A (p.Glu2200=)
c.6597G>A (p.Glu2199=)
c.6543G>A (p.Glu2181=)
c.6577+26G>A (n.6577+26G>A)
c.6468G>A (p.Glu2156=)
c.6063G>A (p.Glu2021=)
c.5421G>A (p.Glu1807=)
c.2931G>A (p.Glu977=)
n.6846G>A
 dbSNP
10g.71793336G>CCA377154860CDH23c.6408G>C (p.Glu2136Asp)
c.6423G>C (p.Glu2141Asp)
c.6603G>C (p.Glu2201Asp)
c.6537G>C (p.Glu2179Asp)
c.6600G>C (p.Glu2200Asp)
c.6597G>C (p.Glu2199Asp)
c.6543G>C (p.Glu2181Asp)
c.6577+26G>C (n.6577+26G>C)
c.6468G>C (p.Glu2156Asp)
c.6063G>C (p.Glu2021Asp)
c.5421G>C (p.Glu1807Asp)
c.2931G>C (p.Glu977Asp)
n.6846G>C
10g.71793336G>TCA377154862CDH23c.6408G>T (p.Glu2136Asp)
c.6423G>T (p.Glu2141Asp)
c.6603G>T (p.Glu2201Asp)
c.6537G>T (p.Glu2179Asp)
c.6600G>T (p.Glu2200Asp)
c.6597G>T (p.Glu2199Asp)
c.6543G>T (p.Glu2181Asp)
c.6577+26G>T (n.6577+26G>T)
c.6468G>T (p.Glu2156Asp)
c.6063G>T (p.Glu2021Asp)
c.5421G>T (p.Glu1807Asp)
c.2931G>T (p.Glu977Asp)
n.6846G>T
10g.71793337C>ACA377154864CDH23c.6409C>A (p.Gln2137Lys)
c.6424C>A (p.Gln2142Lys)
c.6604C>A (p.Gln2202Lys)
c.6538C>A (p.Gln2180Lys)
c.6601C>A (p.Gln2201Lys)
c.6598C>A (p.Gln2200Lys)
c.6544C>A (p.Gln2182Lys)
c.6577+27C>A (n.6577+27C>A)
c.6469C>A (p.Gln2157Lys)
c.6064C>A (p.Gln2022Lys)
c.5422C>A (p.Gln1808Lys)
c.2932C>A (p.Gln978Lys)
n.6847C>A
10g.71793337C>GCA377154867CDH23c.6409C>G (p.Gln2137Glu)
c.6424C>G (p.Gln2142Glu)
c.6604C>G (p.Gln2202Glu)
c.6538C>G (p.Gln2180Glu)
c.6601C>G (p.Gln2201Glu)
c.6598C>G (p.Gln2200Glu)
c.6544C>G (p.Gln2182Glu)
c.6577+27C>G (n.6577+27C>G)
c.6469C>G (p.Gln2157Glu)
c.6064C>G (p.Gln2022Glu)
c.5422C>G (p.Gln1808Glu)
c.2932C>G (p.Gln978Glu)
n.6847C>G
10g.71793337C>TCA377154869CDH23c.6409C>T (p.Gln2137Ter)
c.6424C>T (p.Gln2142Ter)
c.6604C>T (p.Gln2202Ter)
c.6538C>T (p.Gln2180Ter)
c.6601C>T (p.Gln2201Ter)
c.6598C>T (p.Gln2200Ter)
c.6544C>T (p.Gln2182Ter)
c.6577+27C>T (n.6577+27C>T)
c.6469C>T (p.Gln2157Ter)
c.6064C>T (p.Gln2022Ter)
c.5422C>T (p.Gln1808Ter)
c.2932C>T (p.Gln978Ter)
n.6847C>T
10g.71793338A=CA1918874273CDH23c.6410A= (p.Gln2137=)
c.6425A= (p.Gln2142=)
c.6605A= (p.Gln2202=)
c.6539A= (p.Gln2180=)
c.6602A= (p.Gln2201=)
c.6599A= (p.Gln2200=)
c.6545A= (p.Gln2182=)
c.6577+28A= (n.6577+28A=)
c.6470A= (p.Gln2157=)
c.6065A= (p.Gln2022=)
c.5423A= (p.Gln1808=)
c.2933A= (p.Gln978=)
n.6848A=
10g.71793338A>CCA209466075CDH23c.6410A>C (p.Gln2137Pro)
c.6425A>C (p.Gln2142Pro)
c.6605A>C (p.Gln2202Pro)
c.6539A>C (p.Gln2180Pro)
c.6602A>C (p.Gln2201Pro)
c.6599A>C (p.Gln2200Pro)
c.6545A>C (p.Gln2182Pro)
c.6577+28A>C (n.6577+28A>C)
c.6470A>C (p.Gln2157Pro)
c.6065A>C (p.Gln2022Pro)
c.5423A>C (p.Gln1808Pro)
c.2933A>C (p.Gln978Pro)
n.6848A>C
 dbSNP
10g.71793338A>GCA377154882CDH23c.6410A>G (p.Gln2137Arg)
c.6425A>G (p.Gln2142Arg)
c.6605A>G (p.Gln2202Arg)
c.6539A>G (p.Gln2180Arg)
c.6602A>G (p.Gln2201Arg)
c.6599A>G (p.Gln2200Arg)
c.6545A>G (p.Gln2182Arg)
c.6577+28A>G (n.6577+28A>G)
c.6470A>G (p.Gln2157Arg)
c.6065A>G (p.Gln2022Arg)
c.5423A>G (p.Gln1808Arg)
c.2933A>G (p.Gln978Arg)
n.6848A>G
 gnomAD v4
10g.71793338A>TCA377154872CDH23c.6410A>T (p.Gln2137Leu)
c.6425A>T (p.Gln2142Leu)
c.6605A>T (p.Gln2202Leu)
c.6539A>T (p.Gln2180Leu)
c.6602A>T (p.Gln2201Leu)
c.6599A>T (p.Gln2200Leu)
c.6545A>T (p.Gln2182Leu)
c.6577+28A>T (n.6577+28A>T)
c.6470A>T (p.Gln2157Leu)
c.6065A>T (p.Gln2022Leu)
c.5423A>T (p.Gln1808Leu)
c.2933A>T (p.Gln978Leu)
n.6848A>T
10g.71793338_71793339delinsAGCA1918874272CDH23c.6410_6411delinsAG (p.Gln2137=)
c.6425_6426delinsAG (p.Gln2142=)
c.6605_6606delinsAG (p.Gln2202=)
c.6539_6540delinsAG (p.Gln2180=)
c.6602_6603delinsAG (p.Gln2201=)
c.6599_6600delinsAG (p.Gln2200=)
c.6545_6546delinsAG (p.Gln2182=)
c.6577+28_6577+29delinsAG (n.6577+28_6577+29delinsAG)
c.6470_6471delinsAG (p.Gln2157=)
c.6065_6066delinsAG (p.Gln2022=)
c.5423_5424delinsAG (p.Gln1808=)
c.2933_2934delinsAG (p.Gln978=)
n.6848_6849delinsAG
10g.71793339G>ACA668108962CDH23c.6411G>A (p.Gln2137=)
c.6426G>A (p.Gln2142=)
c.6606G>A (p.Gln2202=)
c.6540G>A (p.Gln2180=)
c.6603G>A (p.Gln2201=)
c.6600G>A (p.Gln2200=)
c.6546G>A (p.Gln2182=)
c.6577+29G>A (n.6577+29G>A)
c.6471G>A (p.Gln2157=)
c.6066G>A (p.Gln2022=)
c.5424G>A (p.Gln1808=)
c.2934G>A (p.Gln978=)
n.6849G>A
 ClinVar dbSNP
10g.71793339G>CCA377154888CDH23c.6411G>C (p.Gln2137His)
c.6426G>C (p.Gln2142His)
c.6606G>C (p.Gln2202His)
c.6540G>C (p.Gln2180His)
c.6603G>C (p.Gln2201His)
c.6600G>C (p.Gln2200His)
c.6546G>C (p.Gln2182His)
c.6577+29G>C (n.6577+29G>C)
c.6471G>C (p.Gln2157His)
c.6066G>C (p.Gln2022His)
c.5424G>C (p.Gln1808His)
c.2934G>C (p.Gln978His)
n.6849G>C
10g.71793339G=CA1918874276CDH23c.6411G= (p.Gln2137=)
c.6426G= (p.Gln2142=)
c.6606G= (p.Gln2202=)
c.6540G= (p.Gln2180=)
c.6603G= (p.Gln2201=)
c.6600G= (p.Gln2200=)
c.6546G= (p.Gln2182=)
c.6577+29G= (n.6577+29G=)
c.6471G= (p.Gln2157=)
c.6066G= (p.Gln2022=)
c.5424G= (p.Gln1808=)
c.2934G= (p.Gln978=)
n.6849G=
10g.71793339G>TCA209466076CDH23c.6411G>T (p.Gln2137His)
c.6426G>T (p.Gln2142His)
c.6606G>T (p.Gln2202His)
c.6540G>T (p.Gln2180His)
c.6603G>T (p.Gln2201His)
c.6600G>T (p.Gln2200His)
c.6546G>T (p.Gln2182His)
c.6577+29G>T (n.6577+29G>T)
c.6471G>T (p.Gln2157His)
c.6066G>T (p.Gln2022His)
c.5424G>T (p.Gln1808His)
c.2934G>T (p.Gln978His)
n.6849G>T
 dbSNP
10g.71793340delCA261795CDH23c.6412del (p.Glu2138SerfsTer5)
c.6427del (p.Glu2143SerfsTer5)
c.6607del (p.Glu2203SerfsTer5)
c.6541del (p.Glu2181SerfsTer5)
c.6604del (p.Glu2202SerfsTer5)
c.6601del (p.Glu2201SerfsTer5)
c.6547del (p.Glu2183SerfsTer5)
c.6577+30del (n.6577+30del)
c.6472del (p.Glu2158SerfsTer5)
c.6067del (p.Glu2023SerfsTer5)
c.5425del (p.Glu1809SerfsTer5)
c.2935del (p.Glu979SerfsTer5)
n.6850del
 ClinVar dbSNP
10g.71793340G>ACA377154896CDH23c.6412G>A (p.Glu2138Lys)
c.6427G>A (p.Glu2143Lys)
c.6607G>A (p.Glu2203Lys)
c.6541G>A (p.Glu2181Lys)
c.6604G>A (p.Glu2202Lys)
c.6601G>A (p.Glu2201Lys)
c.6547G>A (p.Glu2183Lys)
c.6577+30G>A (n.6577+30G>A)
c.6472G>A (p.Glu2158Lys)
c.6067G>A (p.Glu2023Lys)
c.5425G>A (p.Glu1809Lys)
c.2935G>A (p.Glu979Lys)
n.6850G>A
10g.71793340G>CCA377154893CDH23c.6412G>C (p.Glu2138Gln)
c.6427G>C (p.Glu2143Gln)
c.6607G>C (p.Glu2203Gln)
c.6541G>C (p.Glu2181Gln)
c.6604G>C (p.Glu2202Gln)
c.6601G>C (p.Glu2201Gln)
c.6547G>C (p.Glu2183Gln)
c.6577+30G>C (n.6577+30G>C)
c.6472G>C (p.Glu2158Gln)
c.6067G>C (p.Glu2023Gln)
c.5425G>C (p.Glu1809Gln)
c.2935G>C (p.Glu979Gln)
n.6850G>C
10g.71793340G>TCA377154899CDH23c.6412G>T (p.Glu2138Ter)
c.6427G>T (p.Glu2143Ter)
c.6607G>T (p.Glu2203Ter)
c.6541G>T (p.Glu2181Ter)
c.6604G>T (p.Glu2202Ter)
c.6601G>T (p.Glu2201Ter)
c.6547G>T (p.Glu2183Ter)
c.6577+30G>T (n.6577+30G>T)
c.6472G>T (p.Glu2158Ter)
c.6067G>T (p.Glu2023Ter)
c.5425G>T (p.Glu1809Ter)
c.2935G>T (p.Glu979Ter)
n.6850G>T
10g.71793341A>CCA377154902CDH23c.6413A>C (p.Glu2138Ala)
c.6428A>C (p.Glu2143Ala)
c.6608A>C (p.Glu2203Ala)
c.6542A>C (p.Glu2181Ala)
c.6605A>C (p.Glu2202Ala)
c.6602A>C (p.Glu2201Ala)
c.6548A>C (p.Glu2183Ala)
c.6577+31A>C (n.6577+31A>C)
c.6473A>C (p.Glu2158Ala)
c.6068A>C (p.Glu2023Ala)
c.5426A>C (p.Glu1809Ala)
c.2936A>C (p.Glu979Ala)
n.6851A>C
10g.71793341A>GCA377154904CDH23c.6413A>G (p.Glu2138Gly)
c.6428A>G (p.Glu2143Gly)
c.6608A>G (p.Glu2203Gly)
c.6542A>G (p.Glu2181Gly)
c.6605A>G (p.Glu2202Gly)
c.6602A>G (p.Glu2201Gly)
c.6548A>G (p.Glu2183Gly)
c.6577+31A>G (n.6577+31A>G)
c.6473A>G (p.Glu2158Gly)
c.6068A>G (p.Glu2023Gly)
c.5426A>G (p.Glu1809Gly)
c.2936A>G (p.Glu979Gly)
n.6851A>G
 gnomAD v4 COSMIC
10g.71793341A>TCA377154907CDH23c.6413A>T (p.Glu2138Val)
c.6428A>T (p.Glu2143Val)
c.6608A>T (p.Glu2203Val)
c.6542A>T (p.Glu2181Val)
c.6605A>T (p.Glu2202Val)
c.6602A>T (p.Glu2201Val)
c.6548A>T (p.Glu2183Val)
c.6577+31A>T (n.6577+31A>T)
c.6473A>T (p.Glu2158Val)
c.6068A>T (p.Glu2023Val)
c.5426A>T (p.Glu1809Val)
c.2936A>T (p.Glu979Val)
n.6851A>T
10g.71793342G>ACA2722285850CDH23c.6414G>A (p.Glu2138=)
c.6429G>A (p.Glu2143=)
c.6609G>A (p.Glu2203=)
c.6543G>A (p.Glu2181=)
c.6606G>A (p.Glu2202=)
c.6603G>A (p.Glu2201=)
c.6549G>A (p.Glu2183=)
c.6577+32G>A (n.6577+32G>A)
c.6474G>A (p.Glu2158=)
c.6069G>A (p.Glu2023=)
c.5427G>A (p.Glu1809=)
c.2937G>A (p.Glu979=)
n.6852G>A
 dbSNP
10g.71793342G>CCA377154910CDH23c.6414G>C (p.Glu2138Asp)
c.6429G>C (p.Glu2143Asp)
c.6609G>C (p.Glu2203Asp)
c.6543G>C (p.Glu2181Asp)
c.6606G>C (p.Glu2202Asp)
c.6603G>C (p.Glu2201Asp)
c.6549G>C (p.Glu2183Asp)
c.6577+32G>C (n.6577+32G>C)
c.6474G>C (p.Glu2158Asp)
c.6069G>C (p.Glu2023Asp)
c.5427G>C (p.Glu1809Asp)
c.2937G>C (p.Glu979Asp)
n.6852G>C
 dbSNP
10g.71793342G>TCA377154912CDH23c.6414G>T (p.Glu2138Asp)
c.6429G>T (p.Glu2143Asp)
c.6609G>T (p.Glu2203Asp)
c.6543G>T (p.Glu2181Asp)
c.6606G>T (p.Glu2202Asp)
c.6603G>T (p.Glu2201Asp)
c.6549G>T (p.Glu2183Asp)
c.6577+32G>T (n.6577+32G>T)
c.6474G>T (p.Glu2158Asp)
c.6069G>T (p.Glu2023Asp)
c.5427G>T (p.Glu1809Asp)
c.2937G>T (p.Glu979Asp)
n.6852G>T
10g.71793343T>ACA377154917CDH23c.6415T>A (p.Ser2139Thr)
c.6430T>A (p.Ser2144Thr)
c.6610T>A (p.Ser2204Thr)
c.6544T>A (p.Ser2182Thr)
c.6607T>A (p.Ser2203Thr)
c.6604T>A (p.Ser2202Thr)
c.6550T>A (p.Ser2184Thr)
c.6577+33T>A (n.6577+33T>A)
c.6475T>A (p.Ser2159Thr)
c.6070T>A (p.Ser2024Thr)
c.5428T>A (p.Ser1810Thr)
c.2938T>A (p.Ser980Thr)
n.6853T>A
10g.71793343T>CCA377154920CDH23c.6415T>C (p.Ser2139Pro)
c.6430T>C (p.Ser2144Pro)
c.6610T>C (p.Ser2204Pro)
c.6544T>C (p.Ser2182Pro)
c.6607T>C (p.Ser2203Pro)
c.6604T>C (p.Ser2202Pro)
c.6550T>C (p.Ser2184Pro)
c.6577+33T>C (n.6577+33T>C)
c.6475T>C (p.Ser2159Pro)
c.6070T>C (p.Ser2024Pro)
c.5428T>C (p.Ser1810Pro)
c.2938T>C (p.Ser980Pro)
n.6853T>C
10g.71793343T>GCA377154923CDH23c.6415T>G (p.Ser2139Ala)
c.6430T>G (p.Ser2144Ala)
c.6610T>G (p.Ser2204Ala)
c.6544T>G (p.Ser2182Ala)
c.6607T>G (p.Ser2203Ala)
c.6604T>G (p.Ser2202Ala)
c.6550T>G (p.Ser2184Ala)
c.6577+33T>G (n.6577+33T>G)
c.6475T>G (p.Ser2159Ala)
c.6070T>G (p.Ser2024Ala)
c.5428T>G (p.Ser1810Ala)
c.2938T>G (p.Ser980Ala)
n.6853T>G
10g.71793344C>ACA377154925CDH23c.6416C>A (p.Ser2139Tyr)
c.6431C>A (p.Ser2144Tyr)
c.6611C>A (p.Ser2204Tyr)
c.6545C>A (p.Ser2182Tyr)
c.6608C>A (p.Ser2203Tyr)
c.6605C>A (p.Ser2202Tyr)
c.6551C>A (p.Ser2184Tyr)
c.6577+34C>A (n.6577+34C>A)
c.6476C>A (p.Ser2159Tyr)
c.6071C>A (p.Ser2024Tyr)
c.5429C>A (p.Ser1810Tyr)
c.2939C>A (p.Ser980Tyr)
n.6854C>A
10g.71793344C=CA1918874277CDH23c.6416C= (p.Ser2139=)
c.6431C= (p.Ser2144=)
c.6611C= (p.Ser2204=)
c.6545C= (p.Ser2182=)
c.6608C= (p.Ser2203=)
c.6605C= (p.Ser2202=)
c.6551C= (p.Ser2184=)
c.6577+34C= (n.6577+34C=)
c.6476C= (p.Ser2159=)
c.6071C= (p.Ser2024=)
c.5429C= (p.Ser1810=)
c.2939C= (p.Ser980=)
n.6854C=
10g.71793344C>GCA377154926CDH23c.6416C>G (p.Ser2139Cys)
c.6431C>G (p.Ser2144Cys)
c.6611C>G (p.Ser2204Cys)
c.6545C>G (p.Ser2182Cys)
c.6608C>G (p.Ser2203Cys)
c.6605C>G (p.Ser2202Cys)
c.6551C>G (p.Ser2184Cys)
c.6577+34C>G (n.6577+34C>G)
c.6476C>G (p.Ser2159Cys)
c.6071C>G (p.Ser2024Cys)
c.5429C>G (p.Ser1810Cys)
c.2939C>G (p.Ser980Cys)
n.6854C>G
 dbSNP
10g.71793344C>TCA377154929CDH23c.6416C>T (p.Ser2139Phe)
c.6431C>T (p.Ser2144Phe)
c.6611C>T (p.Ser2204Phe)
c.6545C>T (p.Ser2182Phe)
c.6608C>T (p.Ser2203Phe)
c.6605C>T (p.Ser2202Phe)
c.6551C>T (p.Ser2184Phe)
c.6577+34C>T (n.6577+34C>T)
c.6476C>T (p.Ser2159Phe)
c.6071C>T (p.Ser2024Phe)
c.5429C>T (p.Ser1810Phe)
c.2939C>T (p.Ser980Phe)
n.6854C>T
 dbSNP gnomAD v3 gnomAD v4
10g.71793345C=CA1918874279CDH23c.6417C= (p.Ser2139=)
c.6432C= (p.Ser2144=)
c.6612C= (p.Ser2204=)
c.6546C= (p.Ser2182=)
c.6609C= (p.Ser2203=)
c.6606C= (p.Ser2202=)
c.6552C= (p.Ser2184=)
c.6577+35C= (n.6577+35C=)
c.6477C= (p.Ser2159=)
c.6072C= (p.Ser2024=)
c.5430C= (p.Ser1810=)
c.2940C= (p.Ser980=)
n.6855C=
10g.71793345C>GCA209466082CDH23c.6417C>G (p.Ser2139=)
c.6432C>G (p.Ser2144=)
c.6612C>G (p.Ser2204=)
c.6546C>G (p.Ser2182=)
c.6609C>G (p.Ser2203=)
c.6606C>G (p.Ser2202=)
c.6552C>G (p.Ser2184=)
c.6577+35C>G (n.6577+35C>G)
c.6477C>G (p.Ser2159=)
c.6072C>G (p.Ser2024=)
c.5430C>G (p.Ser1810=)
c.2940C>G (p.Ser980=)
n.6855C>G
 dbSNP
10g.71793345C>TCA5546072CDH23c.6417C>T (p.Ser2139=)
c.6432C>T (p.Ser2144=)
c.6612C>T (p.Ser2204=)
c.6546C>T (p.Ser2182=)
c.6609C>T (p.Ser2203=)
c.6606C>T (p.Ser2202=)
c.6552C>T (p.Ser2184=)
c.6577+35C>T (n.6577+35C>T)
c.6477C>T (p.Ser2159=)
c.6072C>T (p.Ser2024=)
c.5430C>T (p.Ser1810=)
c.2940C>T (p.Ser980=)
n.6855C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793346T>ACA377154933CDH23c.6418T>A (p.Tyr2140Asn)
c.6433T>A (p.Tyr2145Asn)
c.6613T>A (p.Tyr2205Asn)
c.6547T>A (p.Tyr2183Asn)
c.6610T>A (p.Tyr2204Asn)
c.6607T>A (p.Tyr2203Asn)
c.6553T>A (p.Tyr2185Asn)
c.6577+36T>A (n.6577+36T>A)
c.6478T>A (p.Tyr2160Asn)
c.6073T>A (p.Tyr2025Asn)
c.5431T>A (p.Tyr1811Asn)
c.2941T>A (p.Tyr981Asn)
n.6856T>A
10g.71793346T>CCA377154937CDH23c.6418T>C (p.Tyr2140His)
c.6433T>C (p.Tyr2145His)
c.6613T>C (p.Tyr2205His)
c.6547T>C (p.Tyr2183His)
c.6610T>C (p.Tyr2204His)
c.6607T>C (p.Tyr2203His)
c.6553T>C (p.Tyr2185His)
c.6577+36T>C (n.6577+36T>C)
c.6478T>C (p.Tyr2160His)
c.6073T>C (p.Tyr2025His)
c.5431T>C (p.Tyr1811His)
c.2941T>C (p.Tyr981His)
n.6856T>C
 ClinVar dbSNP gnomAD v4
10g.71793346T>GCA377154936CDH23c.6418T>G (p.Tyr2140Asp)
c.6433T>G (p.Tyr2145Asp)
c.6613T>G (p.Tyr2205Asp)
c.6547T>G (p.Tyr2183Asp)
c.6610T>G (p.Tyr2204Asp)
c.6607T>G (p.Tyr2203Asp)
c.6553T>G (p.Tyr2185Asp)
c.6577+36T>G (n.6577+36T>G)
c.6478T>G (p.Tyr2160Asp)
c.6073T>G (p.Tyr2025Asp)
c.5431T>G (p.Tyr1811Asp)
c.2941T>G (p.Tyr981Asp)
n.6856T>G
10g.71793346T=CA1918874281CDH23c.6418T= (p.Tyr2140=)
c.6433T= (p.Tyr2145=)
c.6613T= (p.Tyr2205=)
c.6547T= (p.Tyr2183=)
c.6610T= (p.Tyr2204=)
c.6607T= (p.Tyr2203=)
c.6553T= (p.Tyr2185=)
c.6577+36T= (n.6577+36T=)
c.6478T= (p.Tyr2160=)
c.6073T= (p.Tyr2025=)
c.5431T= (p.Tyr1811=)
c.2941T= (p.Tyr981=)
n.6856T=
10g.71793347A>CCA377154939CDH23c.6419A>C (p.Tyr2140Ser)
c.6434A>C (p.Tyr2145Ser)
c.6614A>C (p.Tyr2205Ser)
c.6548A>C (p.Tyr2183Ser)
c.6611A>C (p.Tyr2204Ser)
c.6608A>C (p.Tyr2203Ser)
c.6554A>C (p.Tyr2185Ser)
c.6577+37A>C (n.6577+37A>C)
c.6479A>C (p.Tyr2160Ser)
c.6074A>C (p.Tyr2025Ser)
c.5432A>C (p.Tyr1811Ser)
c.2942A>C (p.Tyr981Ser)
n.6857A>C
10g.71793347A>GCA377154941CDH23c.6419A>G (p.Tyr2140Cys)
c.6434A>G (p.Tyr2145Cys)
c.6614A>G (p.Tyr2205Cys)
c.6548A>G (p.Tyr2183Cys)
c.6611A>G (p.Tyr2204Cys)
c.6608A>G (p.Tyr2203Cys)
c.6554A>G (p.Tyr2185Cys)
c.6577+37A>G (n.6577+37A>G)
c.6479A>G (p.Tyr2160Cys)
c.6074A>G (p.Tyr2025Cys)
c.5432A>G (p.Tyr1811Cys)
c.2942A>G (p.Tyr981Cys)
n.6857A>G
10g.71793347A>TCA377154945CDH23c.6419A>T (p.Tyr2140Phe)
c.6434A>T (p.Tyr2145Phe)
c.6614A>T (p.Tyr2205Phe)
c.6548A>T (p.Tyr2183Phe)
c.6611A>T (p.Tyr2204Phe)
c.6608A>T (p.Tyr2203Phe)
c.6554A>T (p.Tyr2185Phe)
c.6577+37A>T (n.6577+37A>T)
c.6479A>T (p.Tyr2160Phe)
c.6074A>T (p.Tyr2025Phe)
c.5432A>T (p.Tyr1811Phe)
c.2942A>T (p.Tyr981Phe)
n.6857A>T
10g.71793348C>ACA377154948CDH23c.6420C>A (p.Tyr2140Ter)
c.6435C>A (p.Tyr2145Ter)
c.6615C>A (p.Tyr2205Ter)
c.6549C>A (p.Tyr2183Ter)
c.6612C>A (p.Tyr2204Ter)
c.6609C>A (p.Tyr2203Ter)
c.6555C>A (p.Tyr2185Ter)
c.6577+38C>A (n.6577+38C>A)
c.6480C>A (p.Tyr2160Ter)
c.6075C>A (p.Tyr2025Ter)
c.5433C>A (p.Tyr1811Ter)
c.2943C>A (p.Tyr981Ter)
n.6858C>A
10g.71793348C=CA1918874283CDH23c.6420C= (p.Tyr2140=)
c.6435C= (p.Tyr2145=)
c.6615C= (p.Tyr2205=)
c.6549C= (p.Tyr2183=)
c.6612C= (p.Tyr2204=)
c.6609C= (p.Tyr2203=)
c.6555C= (p.Tyr2185=)
c.6577+38C= (n.6577+38C=)
c.6480C= (p.Tyr2160=)
c.6075C= (p.Tyr2025=)
c.5433C= (p.Tyr1811=)
c.2943C= (p.Tyr981=)
n.6858C=
10g.71793348C>GCA5546073CDH23c.6420C>G (p.Tyr2140Ter)
c.6435C>G (p.Tyr2145Ter)
c.6615C>G (p.Tyr2205Ter)
c.6549C>G (p.Tyr2183Ter)
c.6612C>G (p.Tyr2204Ter)
c.6609C>G (p.Tyr2203Ter)
c.6555C>G (p.Tyr2185Ter)
c.6577+38C>G (n.6577+38C>G)
c.6480C>G (p.Tyr2160Ter)
c.6075C>G (p.Tyr2025Ter)
c.5433C>G (p.Tyr1811Ter)
c.2943C>G (p.Tyr981Ter)
n.6858C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793348C>TCA2538860961CDH23c.6420C>T (p.Tyr2140=)
c.6435C>T (p.Tyr2145=)
c.6615C>T (p.Tyr2205=)
c.6549C>T (p.Tyr2183=)
c.6612C>T (p.Tyr2204=)
c.6609C>T (p.Tyr2203=)
c.6555C>T (p.Tyr2185=)
c.6577+38C>T (n.6577+38C>T)
c.6480C>T (p.Tyr2160=)
c.6075C>T (p.Tyr2025=)
c.5433C>T (p.Tyr1811=)
c.2943C>T (p.Tyr981=)
n.6858C>T
 ClinVar dbSNP gnomAD v4
10g.71793349A=CA1918874286CDH23c.6421A= (p.Arg2141=)
c.6436A= (p.Arg2146=)
c.6616A= (p.Arg2206=)
c.6550A= (p.Arg2184=)
c.6613A= (p.Arg2205=)
c.6610A= (p.Arg2204=)
c.6556A= (p.Arg2186=)
c.6577+39A= (n.6577+39A=)
c.6481A= (p.Arg2161=)
c.6076A= (p.Arg2026=)
c.5434A= (p.Arg1812=)
c.2944A= (p.Arg982=)
n.6859A=
10g.71793349A>CCA1918874288CDH23c.6421A>C (p.Arg2141=)
c.6436A>C (p.Arg2146=)
c.6616A>C (p.Arg2206=)
c.6550A>C (p.Arg2184=)
c.6613A>C (p.Arg2205=)
c.6610A>C (p.Arg2204=)
c.6556A>C (p.Arg2186=)
c.6577+39A>C (n.6577+39A>C)
c.6481A>C (p.Arg2161=)
c.6076A>C (p.Arg2026=)
c.5434A>C (p.Arg1812=)
c.2944A>C (p.Arg982=)
n.6859A>C
 ClinVar dbSNP gnomAD v4
10g.71793349A>GCA5546074CDH23c.6421A>G (p.Arg2141Gly)
c.6436A>G (p.Arg2146Gly)
c.6616A>G (p.Arg2206Gly)
c.6550A>G (p.Arg2184Gly)
c.6613A>G (p.Arg2205Gly)
c.6610A>G (p.Arg2204Gly)
c.6556A>G (p.Arg2186Gly)
c.6577+39A>G (n.6577+39A>G)
c.6481A>G (p.Arg2161Gly)
c.6076A>G (p.Arg2026Gly)
c.5434A>G (p.Arg1812Gly)
c.2944A>G (p.Arg982Gly)
n.6859A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793349A>TCA377154953CDH23c.6421A>T (p.Arg2141Trp)
c.6436A>T (p.Arg2146Trp)
c.6616A>T (p.Arg2206Trp)
c.6550A>T (p.Arg2184Trp)
c.6613A>T (p.Arg2205Trp)
c.6610A>T (p.Arg2204Trp)
c.6556A>T (p.Arg2186Trp)
c.6577+39A>T (n.6577+39A>T)
c.6481A>T (p.Arg2161Trp)
c.6076A>T (p.Arg2026Trp)
c.5434A>T (p.Arg1812Trp)
c.2944A>T (p.Arg982Trp)
n.6859A>T
10g.71793350G>ACA5546075CDH23c.6422G>A (p.Arg2141Lys)
c.6437G>A (p.Arg2146Lys)
c.6617G>A (p.Arg2206Lys)
c.6551G>A (p.Arg2184Lys)
c.6614G>A (p.Arg2205Lys)
c.6611G>A (p.Arg2204Lys)
c.6557G>A (p.Arg2186Lys)
c.6577+40G>A (n.6577+40G>A)
c.6482G>A (p.Arg2161Lys)
c.6077G>A (p.Arg2026Lys)
c.5435G>A (p.Arg1812Lys)
c.2945G>A (p.Arg982Lys)
n.6860G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793350G>CCA377154955CDH23c.6422G>C (p.Arg2141Thr)
c.6437G>C (p.Arg2146Thr)
c.6617G>C (p.Arg2206Thr)
c.6551G>C (p.Arg2184Thr)
c.6614G>C (p.Arg2205Thr)
c.6611G>C (p.Arg2204Thr)
c.6557G>C (p.Arg2186Thr)
c.6577+40G>C (n.6577+40G>C)
c.6482G>C (p.Arg2161Thr)
c.6077G>C (p.Arg2026Thr)
c.5435G>C (p.Arg1812Thr)
c.2945G>C (p.Arg982Thr)
n.6860G>C
10g.71793350G=CA1918874290CDH23c.6422G= (p.Arg2141=)
c.6437G= (p.Arg2146=)
c.6617G= (p.Arg2206=)
c.6551G= (p.Arg2184=)
c.6614G= (p.Arg2205=)
c.6611G= (p.Arg2204=)
c.6557G= (p.Arg2186=)
c.6577+40G= (n.6577+40G=)
c.6482G= (p.Arg2161=)
c.6077G= (p.Arg2026=)
c.5435G= (p.Arg1812=)
c.2945G= (p.Arg982=)
n.6860G=
10g.71793350G>TCA209466097CDH23c.6422G>T (p.Arg2141Met)
c.6437G>T (p.Arg2146Met)
c.6617G>T (p.Arg2206Met)
c.6551G>T (p.Arg2184Met)
c.6614G>T (p.Arg2205Met)
c.6611G>T (p.Arg2204Met)
c.6557G>T (p.Arg2186Met)
c.6577+40G>T (n.6577+40G>T)
c.6482G>T (p.Arg2161Met)
c.6077G>T (p.Arg2026Met)
c.5435G>T (p.Arg1812Met)
c.2945G>T (p.Arg982Met)
n.6860G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793351G>ACA929791334CDH23c.6423G>A (p.Arg2141=)
c.6438G>A (p.Arg2146=)
c.6618G>A (p.Arg2206=)
c.6552G>A (p.Arg2184=)
c.6615G>A (p.Arg2205=)
c.6612G>A (p.Arg2204=)
c.6558G>A (p.Arg2186=)
c.6577+41G>A (n.6577+41G>A)
c.6483G>A (p.Arg2161=)
c.6078G>A (p.Arg2026=)
c.5436G>A (p.Arg1812=)
c.2946G>A (p.Arg982=)
n.6861G>A
 dbSNP gnomAD v3 gnomAD v4
10g.71793351G>CCA5546076CDH23c.6423G>C (p.Arg2141Ser)
c.6438G>C (p.Arg2146Ser)
c.6618G>C (p.Arg2206Ser)
c.6552G>C (p.Arg2184Ser)
c.6615G>C (p.Arg2205Ser)
c.6612G>C (p.Arg2204Ser)
c.6558G>C (p.Arg2186Ser)
c.6577+41G>C (n.6577+41G>C)
c.6483G>C (p.Arg2161Ser)
c.6078G>C (p.Arg2026Ser)
c.5436G>C (p.Arg1812Ser)
c.2946G>C (p.Arg982Ser)
n.6861G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793351G=CA1918874292CDH23c.6423G= (p.Arg2141=)
c.6438G= (p.Arg2146=)
c.6618G= (p.Arg2206=)
c.6552G= (p.Arg2184=)
c.6615G= (p.Arg2205=)
c.6612G= (p.Arg2204=)
c.6558G= (p.Arg2186=)
c.6577+41G= (n.6577+41G=)
c.6483G= (p.Arg2161=)
c.6078G= (p.Arg2026=)
c.5436G= (p.Arg1812=)
c.2946G= (p.Arg982=)
n.6861G=
10g.71793351G>TCA377154959CDH23c.6423G>T (p.Arg2141Ser)
c.6438G>T (p.Arg2146Ser)
c.6618G>T (p.Arg2206Ser)
c.6552G>T (p.Arg2184Ser)
c.6615G>T (p.Arg2205Ser)
c.6612G>T (p.Arg2204Ser)
c.6558G>T (p.Arg2186Ser)
c.6577+41G>T (n.6577+41G>T)
c.6483G>T (p.Arg2161Ser)
c.6078G>T (p.Arg2026Ser)
c.5436G>T (p.Arg1812Ser)
c.2946G>T (p.Arg982Ser)
n.6861G>T
10g.71793352C>ACA377154961CDH23c.6424C>A (p.Leu2142Ile)
c.6439C>A (p.Leu2147Ile)
c.6619C>A (p.Leu2207Ile)
c.6553C>A (p.Leu2185Ile)
c.6616C>A (p.Leu2206Ile)
c.6613C>A (p.Leu2205Ile)
c.6559C>A (p.Leu2187Ile)
c.6577+42C>A (n.6577+42C>A)
c.6484C>A (p.Leu2162Ile)
c.6079C>A (p.Leu2027Ile)
c.5437C>A (p.Leu1813Ile)
c.2947C>A (p.Leu983Ile)
n.6862C>A
10g.71793352C>GCA377154963CDH23c.6424C>G (p.Leu2142Val)
c.6439C>G (p.Leu2147Val)
c.6619C>G (p.Leu2207Val)
c.6553C>G (p.Leu2185Val)
c.6616C>G (p.Leu2206Val)
c.6613C>G (p.Leu2205Val)
c.6559C>G (p.Leu2187Val)
c.6577+42C>G (n.6577+42C>G)
c.6484C>G (p.Leu2162Val)
c.6079C>G (p.Leu2027Val)
c.5437C>G (p.Leu1813Val)
c.2947C>G (p.Leu983Val)
n.6862C>G
10g.71793352C>TCA2722285895CDH23c.6424C>T (p.Leu2142=)
c.6439C>T (p.Leu2147=)
c.6619C>T (p.Leu2207=)
c.6553C>T (p.Leu2185=)
c.6616C>T (p.Leu2206=)
c.6613C>T (p.Leu2205=)
c.6559C>T (p.Leu2187=)
c.6577+42C>T (n.6577+42C>T)
c.6484C>T (p.Leu2162=)
c.6079C>T (p.Leu2027=)
c.5437C>T (p.Leu1813=)
c.2947C>T (p.Leu983=)
n.6862C>T
 dbSNP
10g.71793353T>ACA377154965CDH23c.6425T>A (p.Leu2142Gln)
c.6440T>A (p.Leu2147Gln)
c.6620T>A (p.Leu2207Gln)
c.6554T>A (p.Leu2185Gln)
c.6617T>A (p.Leu2206Gln)
c.6614T>A (p.Leu2205Gln)
c.6560T>A (p.Leu2187Gln)
c.6577+43T>A (n.6577+43T>A)
c.6485T>A (p.Leu2162Gln)
c.6080T>A (p.Leu2027Gln)
c.5438T>A (p.Leu1813Gln)
c.2948T>A (p.Leu983Gln)
n.6863T>A
10g.71793353T>CCA377154967CDH23c.6425T>C (p.Leu2142Pro)
c.6440T>C (p.Leu2147Pro)
c.6620T>C (p.Leu2207Pro)
c.6554T>C (p.Leu2185Pro)
c.6617T>C (p.Leu2206Pro)
c.6614T>C (p.Leu2205Pro)
c.6560T>C (p.Leu2187Pro)
c.6577+43T>C (n.6577+43T>C)
c.6485T>C (p.Leu2162Pro)
c.6080T>C (p.Leu2027Pro)
c.5438T>C (p.Leu1813Pro)
c.2948T>C (p.Leu983Pro)
n.6863T>C
 dbSNP
10g.71793353T>GCA377154969CDH23c.6425T>G (p.Leu2142Arg)
c.6440T>G (p.Leu2147Arg)
c.6620T>G (p.Leu2207Arg)
c.6554T>G (p.Leu2185Arg)
c.6617T>G (p.Leu2206Arg)
c.6614T>G (p.Leu2205Arg)
c.6560T>G (p.Leu2187Arg)
c.6577+43T>G (n.6577+43T>G)
c.6485T>G (p.Leu2162Arg)
c.6080T>G (p.Leu2027Arg)
c.5438T>G (p.Leu1813Arg)
c.2948T>G (p.Leu983Arg)
n.6863T>G
10g.71793353T=CA1918874294CDH23c.6425T= (p.Leu2142=)
c.6440T= (p.Leu2147=)
c.6620T= (p.Leu2207=)
c.6554T= (p.Leu2185=)
c.6617T= (p.Leu2206=)
c.6614T= (p.Leu2205=)
c.6560T= (p.Leu2187=)
c.6577+43T= (n.6577+43T=)
c.6485T= (p.Leu2162=)
c.6080T= (p.Leu2027=)
c.5438T= (p.Leu1813=)
c.2948T= (p.Leu983=)
n.6863T=
10g.71793354A=CA1918874295CDH23c.6426A= (p.Leu2142=)
c.6441A= (p.Leu2147=)
c.6621A= (p.Leu2207=)
c.6555A= (p.Leu2185=)
c.6618A= (p.Leu2206=)
c.6615A= (p.Leu2205=)
c.6561A= (p.Leu2187=)
c.6577+44A= (n.6577+44A=)
c.6486A= (p.Leu2162=)
c.6081A= (p.Leu2027=)
c.5439A= (p.Leu1813=)
c.2949A= (p.Leu983=)
n.6864A=
10g.71793354A>GCA137533CDH23c.6426A>G (p.Leu2142=)
c.6441A>G (p.Leu2147=)
c.6621A>G (p.Leu2207=)
c.6555A>G (p.Leu2185=)
c.6618A>G (p.Leu2206=)
c.6615A>G (p.Leu2205=)
c.6561A>G (p.Leu2187=)
c.6577+44A>G (n.6577+44A>G)
c.6486A>G (p.Leu2162=)
c.6081A>G (p.Leu2027=)
c.5439A>G (p.Leu1813=)
c.2949A>G (p.Leu983=)
n.6864A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793355A=CA1918874299CDH23c.6427A= (p.Thr2143=)
c.6442A= (p.Thr2148=)
c.6622A= (p.Thr2208=)
c.6556A= (p.Thr2186=)
c.6619A= (p.Thr2207=)
c.6616A= (p.Thr2206=)
c.6562A= (p.Thr2188=)
c.6578-46A= (n.6578-46A=)
c.6487A= (p.Thr2163=)
c.6082A= (p.Thr2028=)
c.5440A= (p.Thr1814=)
c.2950A= (p.Thr984=)
n.6865A=
10g.71793355A>CCA5546077CDH23c.6427A>C (p.Thr2143Pro)
c.6442A>C (p.Thr2148Pro)
c.6622A>C (p.Thr2208Pro)
c.6556A>C (p.Thr2186Pro)
c.6619A>C (p.Thr2207Pro)
c.6616A>C (p.Thr2206Pro)
c.6562A>C (p.Thr2188Pro)
c.6578-46A>C (n.6578-46A>C)
c.6487A>C (p.Thr2163Pro)
c.6082A>C (p.Thr2028Pro)
c.5440A>C (p.Thr1814Pro)
c.2950A>C (p.Thr984Pro)
n.6865A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793355A>GCA377154971CDH23c.6427A>G (p.Thr2143Ala)
c.6442A>G (p.Thr2148Ala)
c.6622A>G (p.Thr2208Ala)
c.6556A>G (p.Thr2186Ala)
c.6619A>G (p.Thr2207Ala)
c.6616A>G (p.Thr2206Ala)
c.6562A>G (p.Thr2188Ala)
c.6578-46A>G (n.6578-46A>G)
c.6487A>G (p.Thr2163Ala)
c.6082A>G (p.Thr2028Ala)
c.5440A>G (p.Thr1814Ala)
c.2950A>G (p.Thr984Ala)
n.6865A>G
10g.71793355A>TCA377154973CDH23c.6427A>T (p.Thr2143Ser)
c.6442A>T (p.Thr2148Ser)
c.6622A>T (p.Thr2208Ser)
c.6556A>T (p.Thr2186Ser)
c.6619A>T (p.Thr2207Ser)
c.6616A>T (p.Thr2206Ser)
c.6562A>T (p.Thr2188Ser)
c.6578-46A>T (n.6578-46A>T)
c.6487A>T (p.Thr2163Ser)
c.6082A>T (p.Thr2028Ser)
c.5440A>T (p.Thr1814Ser)
c.2950A>T (p.Thr984Ser)
n.6865A>T
10g.71793356C>ACA377154975CDH23c.6428C>A (p.Thr2143Lys)
c.6443C>A (p.Thr2148Lys)
c.6623C>A (p.Thr2208Lys)
c.6557C>A (p.Thr2186Lys)
c.6620C>A (p.Thr2207Lys)
c.6617C>A (p.Thr2206Lys)
c.6563C>A (p.Thr2188Lys)
c.6578-45C>A (n.6578-45C>A)
c.6488C>A (p.Thr2163Lys)
c.6083C>A (p.Thr2028Lys)
c.5441C>A (p.Thr1814Lys)
c.2951C>A (p.Thr984Lys)
n.6866C>A
 dbSNP gnomAD v3 gnomAD v4
10g.71793356C=CA1918874302CDH23c.6428C= (p.Thr2143=)
c.6443C= (p.Thr2148=)
c.6623C= (p.Thr2208=)
c.6557C= (p.Thr2186=)
c.6620C= (p.Thr2207=)
c.6617C= (p.Thr2206=)
c.6563C= (p.Thr2188=)
c.6578-45C= (n.6578-45C=)
c.6488C= (p.Thr2163=)
c.6083C= (p.Thr2028=)
c.5441C= (p.Thr1814=)
c.2951C= (p.Thr984=)
n.6866C=
10g.71793356C>GCA377154978CDH23c.6428C>G (p.Thr2143Arg)
c.6443C>G (p.Thr2148Arg)
c.6623C>G (p.Thr2208Arg)
c.6557C>G (p.Thr2186Arg)
c.6620C>G (p.Thr2207Arg)
c.6617C>G (p.Thr2206Arg)
c.6563C>G (p.Thr2188Arg)
c.6578-45C>G (n.6578-45C>G)
c.6488C>G (p.Thr2163Arg)
c.6083C>G (p.Thr2028Arg)
c.5441C>G (p.Thr1814Arg)
c.2951C>G (p.Thr984Arg)
n.6866C>G
 dbSNP
10g.71793356C>TCA377154979CDH23c.6428C>T (p.Thr2143Met)
c.6443C>T (p.Thr2148Met)
c.6623C>T (p.Thr2208Met)
c.6557C>T (p.Thr2186Met)
c.6620C>T (p.Thr2207Met)
c.6617C>T (p.Thr2206Met)
c.6563C>T (p.Thr2188Met)
c.6578-45C>T (n.6578-45C>T)
c.6488C>T (p.Thr2163Met)
c.6083C>T (p.Thr2028Met)
c.5441C>T (p.Thr1814Met)
c.2951C>T (p.Thr984Met)
n.6866C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793356_71793359delinsCGGTCA1918874301CDH23c.6428_6431delinsCGGT (p.Thr2143=)
c.6443_6446delinsCGGT (p.Thr2148=)
c.6623_6626delinsCGGT (p.Thr2208=)
c.6557_6560delinsCGGT (p.Thr2186=)
c.6620_6623delinsCGGT (p.Thr2207=)
c.6617_6620delinsCGGT (p.Thr2206=)
c.6563_6566delinsCGGT (p.Thr2188=)
c.6578-45_6578-42delinsCGGT (n.6578-45_6578-42delinsCGGT)
c.6488_6491delinsCGGT (p.Thr2163=)
c.6083_6086delinsCGGT (p.Thr2028=)
c.5441_5444delinsCGGT (p.Thr1814=)
c.2951_2954delinsCGGT (p.Thr984=)
n.6866_6869delinsCGGT
10g.71793357G>ACA5546078CDH23c.6429G>A (p.Thr2143=)
c.6444G>A (p.Thr2148=)
c.6624G>A (p.Thr2208=)
c.6558G>A (p.Thr2186=)
c.6621G>A (p.Thr2207=)
c.6618G>A (p.Thr2206=)
c.6564G>A (p.Thr2188=)
c.6578-44G>A (n.6578-44G>A)
c.6489G>A (p.Thr2163=)
c.6084G>A (p.Thr2028=)
c.5442G>A (p.Thr1814=)
c.2952G>A (p.Thr984=)
n.6867G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793357G=CA1918874306CDH23c.6429G= (p.Thr2143=)
c.6444G= (p.Thr2148=)
c.6624G= (p.Thr2208=)
c.6558G= (p.Thr2186=)
c.6621G= (p.Thr2207=)
c.6618G= (p.Thr2206=)
c.6564G= (p.Thr2188=)
c.6578-44G= (n.6578-44G=)
c.6489G= (p.Thr2163=)
c.6084G= (p.Thr2028=)
c.5442G= (p.Thr1814=)
c.2952G= (p.Thr984=)
n.6867G=
10g.71793357G>TCA2609580574CDH23c.6429G>T (p.Thr2143=)
c.6444G>T (p.Thr2148=)
c.6624G>T (p.Thr2208=)
c.6558G>T (p.Thr2186=)
c.6621G>T (p.Thr2207=)
c.6618G>T (p.Thr2206=)
c.6564G>T (p.Thr2188=)
c.6578-44G>T (n.6578-44G>T)
c.6489G>T (p.Thr2163=)
c.6084G>T (p.Thr2028=)
c.5442G>T (p.Thr1814=)
c.2952G>T (p.Thr984=)
n.6867G>T
 dbSNP gnomAD v4
10g.71793362_71793364delCA594705921CDH23c.6434_6436del (p.Val2145del)
c.6449_6451del (p.Val2150del)
c.6629_6631del (p.Val2210del)
c.6563_6565del (p.Val2188del)
c.6626_6628del (p.Val2209del)
c.6623_6625del (p.Val2208del)
c.6569_6571del (p.Val2190del)
c.6578-39_6578-37del (n.6578-39_6578-37del)
c.6494_6496del (p.Val2165del)
c.6089_6091del (p.Val2030del)
c.5447_5449del (p.Val1816del)
c.2957_2959del (p.Val986del)
n.6872_6874del
 dbSNP gnomAD v2 gnomAD v4
10g.71793358G>ACA377154984CDH23c.6430G>A (p.Val2144Met)
c.6445G>A (p.Val2149Met)
c.6625G>A (p.Val2209Met)
c.6559G>A (p.Val2187Met)
c.6622G>A (p.Val2208Met)
c.6619G>A (p.Val2207Met)
c.6565G>A (p.Val2189Met)
c.6578-43G>A (n.6578-43G>A)
c.6490G>A (p.Val2164Met)
c.6085G>A (p.Val2029Met)
c.5443G>A (p.Val1815Met)
c.2953G>A (p.Val985Met)
n.6868G>A
 dbSNP
10g.71793358G>CCA377154981CDH23c.6430G>C (p.Val2144Leu)
c.6445G>C (p.Val2149Leu)
c.6625G>C (p.Val2209Leu)
c.6559G>C (p.Val2187Leu)
c.6622G>C (p.Val2208Leu)
c.6619G>C (p.Val2207Leu)
c.6565G>C (p.Val2189Leu)
c.6578-43G>C (n.6578-43G>C)
c.6490G>C (p.Val2164Leu)
c.6085G>C (p.Val2029Leu)
c.5443G>C (p.Val1815Leu)
c.2953G>C (p.Val985Leu)
n.6868G>C
10g.71793358G>TCA377154982CDH23c.6430G>T (p.Val2144Leu)
c.6445G>T (p.Val2149Leu)
c.6625G>T (p.Val2209Leu)
c.6559G>T (p.Val2187Leu)
c.6622G>T (p.Val2208Leu)
c.6619G>T (p.Val2207Leu)
c.6565G>T (p.Val2189Leu)
c.6578-43G>T (n.6578-43G>T)
c.6490G>T (p.Val2164Leu)
c.6085G>T (p.Val2029Leu)
c.5443G>T (p.Val1815Leu)
c.2953G>T (p.Val985Leu)
n.6868G>T
10g.71793359T>ACA377154986CDH23c.6431T>A (p.Val2144Glu)
c.6446T>A (p.Val2149Glu)
c.6626T>A (p.Val2209Glu)
c.6560T>A (p.Val2187Glu)
c.6623T>A (p.Val2208Glu)
c.6620T>A (p.Val2207Glu)
c.6566T>A (p.Val2189Glu)
c.6578-42T>A (n.6578-42T>A)
c.6491T>A (p.Val2164Glu)
c.6086T>A (p.Val2029Glu)
c.5444T>A (p.Val1815Glu)
c.2954T>A (p.Val985Glu)
n.6869T>A
10g.71793359T>CCA377154988CDH23c.6431T>C (p.Val2144Ala)
c.6446T>C (p.Val2149Ala)
c.6626T>C (p.Val2209Ala)
c.6560T>C (p.Val2187Ala)
c.6623T>C (p.Val2208Ala)
c.6620T>C (p.Val2207Ala)
c.6566T>C (p.Val2189Ala)
c.6578-42T>C (n.6578-42T>C)
c.6491T>C (p.Val2164Ala)
c.6086T>C (p.Val2029Ala)
c.5444T>C (p.Val1815Ala)
c.2954T>C (p.Val985Ala)
n.6869T>C
10g.71793359T>GCA377154989CDH23c.6431T>G (p.Val2144Gly)
c.6446T>G (p.Val2149Gly)
c.6626T>G (p.Val2209Gly)
c.6560T>G (p.Val2187Gly)
c.6623T>G (p.Val2208Gly)
c.6620T>G (p.Val2207Gly)
c.6566T>G (p.Val2189Gly)
c.6578-42T>G (n.6578-42T>G)
c.6491T>G (p.Val2164Gly)
c.6086T>G (p.Val2029Gly)
c.5444T>G (p.Val1815Gly)
c.2954T>G (p.Val985Gly)
n.6869T>G
 gnomAD v4
10g.71793360G>ACA2568050254CDH23c.6432G>A (p.Val2144=)
c.6447G>A (p.Val2149=)
c.6627G>A (p.Val2209=)
c.6561G>A (p.Val2187=)
c.6624G>A (p.Val2208=)
c.6621G>A (p.Val2207=)
c.6567G>A (p.Val2189=)
c.6578-41G>A (n.6578-41G>A)
c.6492G>A (p.Val2164=)
c.6087G>A (p.Val2029=)
c.5445G>A (p.Val1815=)
c.2955G>A (p.Val985=)
n.6870G>A
10g.71793361G>ACA209466113CDH23c.6433G>A (p.Val2145Met)
c.6448G>A (p.Val2150Met)
c.6628G>A (p.Val2210Met)
c.6562G>A (p.Val2188Met)
c.6625G>A (p.Val2209Met)
c.6622G>A (p.Val2208Met)
c.6568G>A (p.Val2190Met)
c.6578-40G>A (n.6578-40G>A)
c.6493G>A (p.Val2165Met)
c.6088G>A (p.Val2030Met)
c.5446G>A (p.Val1816Met)
c.2956G>A (p.Val986Met)
n.6871G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71793361G>CCA5546079CDH23c.6433G>C (p.Val2145Leu)
c.6448G>C (p.Val2150Leu)
c.6628G>C (p.Val2210Leu)
c.6562G>C (p.Val2188Leu)
c.6625G>C (p.Val2209Leu)
c.6622G>C (p.Val2208Leu)
c.6568G>C (p.Val2190Leu)
c.6578-40G>C (n.6578-40G>C)
c.6493G>C (p.Val2165Leu)
c.6088G>C (p.Val2030Leu)
c.5446G>C (p.Val1816Leu)
c.2956G>C (p.Val986Leu)
n.6871G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793361G=CA1918874311CDH23c.6433G= (p.Val2145=)
c.6448G= (p.Val2150=)
c.6628G= (p.Val2210=)
c.6562G= (p.Val2188=)
c.6625G= (p.Val2209=)
c.6622G= (p.Val2208=)
c.6568G= (p.Val2190=)
c.6578-40G= (n.6578-40G=)
c.6493G= (p.Val2165=)
c.6088G= (p.Val2030=)
c.5446G= (p.Val1816=)
c.2956G= (p.Val986=)
n.6871G=
10g.71793361G>TCA377154991CDH23c.6433G>T (p.Val2145Leu)
c.6448G>T (p.Val2150Leu)
c.6628G>T (p.Val2210Leu)
c.6562G>T (p.Val2188Leu)
c.6625G>T (p.Val2209Leu)
c.6622G>T (p.Val2208Leu)
c.6568G>T (p.Val2190Leu)
c.6578-40G>T (n.6578-40G>T)
c.6493G>T (p.Val2165Leu)
c.6088G>T (p.Val2030Leu)
c.5446G>T (p.Val1816Leu)
c.2956G>T (p.Val986Leu)
n.6871G>T
10g.71793361_71793390delinsGTGGCCACCGACCGGGGCACCGTTCCTCTCCA1918874313CDH23c.6433_6462delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2145=)
c.6448_6477delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2150=)
c.6628_6657delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2210=)
c.6562_6591delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2188=)
c.6625_6654delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2209=)
c.6622_6651delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2208=)
c.6568_6597delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2190=)
c.6578-40_6578-11delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (n.6578-40_6578-11delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC)
c.6493_6522delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2165=)
c.6088_6117delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val2030=)
c.5446_5475delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val1816=)
c.2956_2985delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC (p.Val986=)
n.6871_6900delinsGTGGCCACCGACCGGGGCACCGTTCCTCTC
10g.71793362T>ACA377154993CDH23c.6434T>A (p.Val2145Glu)
c.6449T>A (p.Val2150Glu)
c.6629T>A (p.Val2210Glu)
c.6563T>A (p.Val2188Glu)
c.6626T>A (p.Val2209Glu)
c.6623T>A (p.Val2208Glu)
c.6569T>A (p.Val2190Glu)
c.6578-39T>A (n.6578-39T>A)
c.6494T>A (p.Val2165Glu)
c.6089T>A (p.Val2030Glu)
c.5447T>A (p.Val1816Glu)
c.2957T>A (p.Val986Glu)
n.6872T>A
 dbSNP
10g.71793362T>CCA377155001CDH23c.6434T>C (p.Val2145Ala)
c.6449T>C (p.Val2150Ala)
c.6629T>C (p.Val2210Ala)
c.6563T>C (p.Val2188Ala)
c.6626T>C (p.Val2209Ala)
c.6623T>C (p.Val2208Ala)
c.6569T>C (p.Val2190Ala)
c.6578-39T>C (n.6578-39T>C)
c.6494T>C (p.Val2165Ala)
c.6089T>C (p.Val2030Ala)
c.5447T>C (p.Val1816Ala)
c.2957T>C (p.Val986Ala)
n.6872T>C
10g.71793362T>GCA209466144CDH23c.6434T>G (p.Val2145Gly)
c.6449T>G (p.Val2150Gly)
c.6629T>G (p.Val2210Gly)
c.6563T>G (p.Val2188Gly)
c.6626T>G (p.Val2209Gly)
c.6623T>G (p.Val2208Gly)
c.6569T>G (p.Val2190Gly)
c.6578-39T>G (n.6578-39T>G)
c.6494T>G (p.Val2165Gly)
c.6089T>G (p.Val2030Gly)
c.5447T>G (p.Val1816Gly)
c.2957T>G (p.Val986Gly)
n.6872T>G
 dbSNP gnomAD v4
10g.71793362T=CA1918874317CDH23c.6434T= (p.Val2145=)
c.6449T= (p.Val2150=)
c.6629T= (p.Val2210=)
c.6563T= (p.Val2188=)
c.6626T= (p.Val2209=)
c.6623T= (p.Val2208=)
c.6569T= (p.Val2190=)
c.6578-39T= (n.6578-39T=)
c.6494T= (p.Val2165=)
c.6089T= (p.Val2030=)
c.5447T= (p.Val1816=)
c.2957T= (p.Val986=)
n.6872T=
10g.71793363_71793391delCA916083139CDH23c.6435_6463del (p.Ala2146GlyfsTer11)
c.6450_6478del (p.Ala2151GlyfsTer11)
c.6630_6658del (p.Ala2211GlyfsTer11)
c.6564_6592del (p.Ala2189GlyfsTer11)
c.6627_6655del (p.Ala2210GlyfsTer11)
c.6624_6652del (p.Ala2209GlyfsTer11)
c.6570_6598del (p.Ala2191GlyfsTer11)
c.6578-38_6578-10del (n.6578-38_6578-10del)
c.6495_6523del (p.Ala2166GlyfsTer11)
c.6090_6118del (p.Ala2031GlyfsTer11)
c.5448_5476del (p.Ala1817GlyfsTer11)
c.2958_2986del (p.Ala987GlyfsTer11)
n.6873_6901del
 ClinVar dbSNP
10g.71793363G>ACA594705922CDH23c.6435G>A (p.Val2145=)
c.6450G>A (p.Val2150=)
c.6630G>A (p.Val2210=)
c.6564G>A (p.Val2188=)
c.6627G>A (p.Val2209=)
c.6624G>A (p.Val2208=)
c.6570G>A (p.Val2190=)
c.6578-38G>A (n.6578-38G>A)
c.6495G>A (p.Val2165=)
c.6090G>A (p.Val2030=)
c.5448G>A (p.Val1816=)
c.2958G>A (p.Val986=)
n.6873G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793363G=CA1918874319CDH23c.6435G= (p.Val2145=)
c.6450G= (p.Val2150=)
c.6630G= (p.Val2210=)
c.6564G= (p.Val2188=)
c.6627G= (p.Val2209=)
c.6624G= (p.Val2208=)
c.6570G= (p.Val2190=)
c.6578-38G= (n.6578-38G=)
c.6495G= (p.Val2165=)
c.6090G= (p.Val2030=)
c.5448G= (p.Val1816=)
c.2958G= (p.Val986=)
n.6873G=
10g.71793364G>ACA377155003CDH23c.6436G>A (p.Ala2146Thr)
c.6451G>A (p.Ala2151Thr)
c.6631G>A (p.Ala2211Thr)
c.6565G>A (p.Ala2189Thr)
c.6628G>A (p.Ala2210Thr)
c.6625G>A (p.Ala2209Thr)
c.6571G>A (p.Ala2191Thr)
c.6578-37G>A (n.6578-37G>A)
c.6496G>A (p.Ala2166Thr)
c.6091G>A (p.Ala2031Thr)
c.5449G>A (p.Ala1817Thr)
c.2959G>A (p.Ala987Thr)
n.6874G>A
10g.71793364G>CCA377155006CDH23c.6436G>C (p.Ala2146Pro)
c.6451G>C (p.Ala2151Pro)
c.6631G>C (p.Ala2211Pro)
c.6565G>C (p.Ala2189Pro)
c.6628G>C (p.Ala2210Pro)
c.6625G>C (p.Ala2209Pro)
c.6571G>C (p.Ala2191Pro)
c.6578-37G>C (n.6578-37G>C)
c.6496G>C (p.Ala2166Pro)
c.6091G>C (p.Ala2031Pro)
c.5449G>C (p.Ala1817Pro)
c.2959G>C (p.Ala987Pro)
n.6874G>C
10g.71793364G>TCA377155008CDH23c.6436G>T (p.Ala2146Ser)
c.6451G>T (p.Ala2151Ser)
c.6631G>T (p.Ala2211Ser)
c.6565G>T (p.Ala2189Ser)
c.6628G>T (p.Ala2210Ser)
c.6625G>T (p.Ala2209Ser)
c.6571G>T (p.Ala2191Ser)
c.6578-37G>T (n.6578-37G>T)
c.6496G>T (p.Ala2166Ser)
c.6091G>T (p.Ala2031Ser)
c.5449G>T (p.Ala1817Ser)
c.2959G>T (p.Ala987Ser)
n.6874G>T
10g.71793365C>ACA377155020CDH23c.6437C>A (p.Ala2146Asp)
c.6452C>A (p.Ala2151Asp)
c.6632C>A (p.Ala2211Asp)
c.6566C>A (p.Ala2189Asp)
c.6629C>A (p.Ala2210Asp)
c.6626C>A (p.Ala2209Asp)
c.6572C>A (p.Ala2191Asp)
c.6578-36C>A (n.6578-36C>A)
c.6497C>A (p.Ala2166Asp)
c.6092C>A (p.Ala2031Asp)
c.5450C>A (p.Ala1817Asp)
c.2960C>A (p.Ala987Asp)
n.6875C>A
10g.71793365C>GCA377155018CDH23c.6437C>G (p.Ala2146Gly)
c.6452C>G (p.Ala2151Gly)
c.6632C>G (p.Ala2211Gly)
c.6566C>G (p.Ala2189Gly)
c.6629C>G (p.Ala2210Gly)
c.6626C>G (p.Ala2209Gly)
c.6572C>G (p.Ala2191Gly)
c.6578-36C>G (n.6578-36C>G)
c.6497C>G (p.Ala2166Gly)
c.6092C>G (p.Ala2031Gly)
c.5450C>G (p.Ala1817Gly)
c.2960C>G (p.Ala987Gly)
n.6875C>G
10g.71793365C>TCA377155017CDH23c.6437C>T (p.Ala2146Val)
c.6452C>T (p.Ala2151Val)
c.6632C>T (p.Ala2211Val)
c.6566C>T (p.Ala2189Val)
c.6629C>T (p.Ala2210Val)
c.6626C>T (p.Ala2209Val)
c.6572C>T (p.Ala2191Val)
c.6578-36C>T (n.6578-36C>T)
c.6497C>T (p.Ala2166Val)
c.6092C>T (p.Ala2031Val)
c.5450C>T (p.Ala1817Val)
c.2960C>T (p.Ala987Val)
n.6875C>T
 dbSNP
10g.71793366C>TCA2536611093CDH23c.6438C>T (p.Ala2146=)
c.6453C>T (p.Ala2151=)
c.6633C>T (p.Ala2211=)
c.6567C>T (p.Ala2189=)
c.6630C>T (p.Ala2210=)
c.6627C>T (p.Ala2209=)
c.6573C>T (p.Ala2191=)
c.6578-35C>T (n.6578-35C>T)
c.6498C>T (p.Ala2166=)
c.6093C>T (p.Ala2031=)
c.5451C>T (p.Ala1817=)
c.2961C>T (p.Ala987=)
n.6876C>T
 dbSNP
10g.71793367A=CA1918874323CDH23c.6439A= (p.Thr2147=)
c.6454A= (p.Thr2152=)
c.6634A= (p.Thr2212=)
c.6568A= (p.Thr2190=)
c.6631A= (p.Thr2211=)
c.6628A= (p.Thr2210=)
c.6574A= (p.Thr2192=)
c.6578-34A= (n.6578-34A=)
c.6499A= (p.Thr2167=)
c.6094A= (p.Thr2032=)
c.5452A= (p.Thr1818=)
c.2962A= (p.Thr988=)
n.6877A=
10g.71793367A>CCA377155022CDH23c.6439A>C (p.Thr2147Pro)
c.6454A>C (p.Thr2152Pro)
c.6634A>C (p.Thr2212Pro)
c.6568A>C (p.Thr2190Pro)
c.6631A>C (p.Thr2211Pro)
c.6628A>C (p.Thr2210Pro)
c.6574A>C (p.Thr2192Pro)
c.6578-34A>C (n.6578-34A>C)
c.6499A>C (p.Thr2167Pro)
c.6094A>C (p.Thr2032Pro)
c.5452A>C (p.Thr1818Pro)
c.2962A>C (p.Thr988Pro)
n.6877A>C
 dbSNP
10g.71793367A>GCA5546080CDH23c.6439A>G (p.Thr2147Ala)
c.6454A>G (p.Thr2152Ala)
c.6634A>G (p.Thr2212Ala)
c.6568A>G (p.Thr2190Ala)
c.6631A>G (p.Thr2211Ala)
c.6628A>G (p.Thr2210Ala)
c.6574A>G (p.Thr2192Ala)
c.6578-34A>G (n.6578-34A>G)
c.6499A>G (p.Thr2167Ala)
c.6094A>G (p.Thr2032Ala)
c.5452A>G (p.Thr1818Ala)
c.2962A>G (p.Thr988Ala)
n.6877A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793367A>TCA377155023CDH23c.6439A>T (p.Thr2147Ser)
c.6454A>T (p.Thr2152Ser)
c.6634A>T (p.Thr2212Ser)
c.6568A>T (p.Thr2190Ser)
c.6631A>T (p.Thr2211Ser)
c.6628A>T (p.Thr2210Ser)
c.6574A>T (p.Thr2192Ser)
c.6578-34A>T (n.6578-34A>T)
c.6499A>T (p.Thr2167Ser)
c.6094A>T (p.Thr2032Ser)
c.5452A>T (p.Thr1818Ser)
c.2962A>T (p.Thr988Ser)
n.6877A>T
10g.71793368C>ACA5546081CDH23c.6440C>A (p.Thr2147Asn)
c.6455C>A (p.Thr2152Asn)
c.6635C>A (p.Thr2212Asn)
c.6569C>A (p.Thr2190Asn)
c.6632C>A (p.Thr2211Asn)
c.6629C>A (p.Thr2210Asn)
c.6575C>A (p.Thr2192Asn)
c.6578-33C>A (n.6578-33C>A)
c.6500C>A (p.Thr2167Asn)
c.6095C>A (p.Thr2032Asn)
c.5453C>A (p.Thr1818Asn)
c.2963C>A (p.Thr988Asn)
n.6878C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793368C=CA1918874329CDH23c.6440C= (p.Thr2147=)
c.6455C= (p.Thr2152=)
c.6635C= (p.Thr2212=)
c.6569C= (p.Thr2190=)
c.6632C= (p.Thr2211=)
c.6629C= (p.Thr2210=)
c.6575C= (p.Thr2192=)
c.6578-33C= (n.6578-33C=)
c.6500C= (p.Thr2167=)
c.6095C= (p.Thr2032=)
c.5453C= (p.Thr1818=)
c.2963C= (p.Thr988=)
n.6878C=
10g.71793368C>GCA377155027CDH23c.6440C>G (p.Thr2147Ser)
c.6455C>G (p.Thr2152Ser)
c.6635C>G (p.Thr2212Ser)
c.6569C>G (p.Thr2190Ser)
c.6632C>G (p.Thr2211Ser)
c.6629C>G (p.Thr2210Ser)
c.6575C>G (p.Thr2192Ser)
c.6578-33C>G (n.6578-33C>G)
c.6500C>G (p.Thr2167Ser)
c.6095C>G (p.Thr2032Ser)
c.5453C>G (p.Thr1818Ser)
c.2963C>G (p.Thr988Ser)
n.6878C>G
10g.71793368C>TCA5546082CDH23c.6440C>T (p.Thr2147Ile)
c.6455C>T (p.Thr2152Ile)
c.6635C>T (p.Thr2212Ile)
c.6569C>T (p.Thr2190Ile)
c.6632C>T (p.Thr2211Ile)
c.6629C>T (p.Thr2210Ile)
c.6575C>T (p.Thr2192Ile)
c.6578-33C>T (n.6578-33C>T)
c.6500C>T (p.Thr2167Ile)
c.6095C>T (p.Thr2032Ile)
c.5453C>T (p.Thr1818Ile)
c.2963C>T (p.Thr988Ile)
n.6878C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793369C=CA1918874331CDH23c.6441C= (p.Thr2147=)
c.6456C= (p.Thr2152=)
c.6636C= (p.Thr2212=)
c.6570C= (p.Thr2190=)
c.6633C= (p.Thr2211=)
c.6630C= (p.Thr2210=)
c.6576C= (p.Thr2192=)
c.6578-32C= (n.6578-32C=)
c.6501C= (p.Thr2167=)
c.6096C= (p.Thr2032=)
c.5454C= (p.Thr1818=)
c.2964C= (p.Thr988=)
n.6879C=
10g.71793369C>GCA2573145266CDH23c.6441C>G (p.Thr2147=)
c.6456C>G (p.Thr2152=)
c.6636C>G (p.Thr2212=)
c.6570C>G (p.Thr2190=)
c.6633C>G (p.Thr2211=)
c.6630C>G (p.Thr2210=)
c.6576C>G (p.Thr2192=)
c.6578-32C>G (n.6578-32C>G)
c.6501C>G (p.Thr2167=)
c.6096C>G (p.Thr2032=)
c.5454C>G (p.Thr1818=)
c.2964C>G (p.Thr988=)
n.6879C>G
 ClinVar dbSNP
10g.71793369C>TCA5546083CDH23c.6441C>T (p.Thr2147=)
c.6456C>T (p.Thr2152=)
c.6636C>T (p.Thr2212=)
c.6570C>T (p.Thr2190=)
c.6633C>T (p.Thr2211=)
c.6630C>T (p.Thr2210=)
c.6576C>T (p.Thr2192=)
c.6578-32C>T (n.6578-32C>T)
c.6501C>T (p.Thr2167=)
c.6096C>T (p.Thr2032=)
c.5454C>T (p.Thr1818=)
c.2964C>T (p.Thr988=)
n.6879C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793370G>ACA253332CDH23c.6442G>A (p.Asp2148Asn)
c.6457G>A (p.Asp2153Asn)
c.6637G>A (p.Asp2213Asn)
c.6571G>A (p.Asp2191Asn)
c.6634G>A (p.Asp2212Asn)
c.6631G>A (p.Asp2211Asn)
c.6577G>A (p.Asp2193Asn)
c.6578-31G>A (n.6578-31G>A)
c.6502G>A (p.Asp2168Asn)
c.6097G>A (p.Asp2033Asn)
c.5455G>A (p.Asp1819Asn)
c.2965G>A (p.Asp989Asn)
n.6880G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793370G>CCA377155032CDH23c.6442G>C (p.Asp2148His)
c.6457G>C (p.Asp2153His)
c.6637G>C (p.Asp2213His)
c.6571G>C (p.Asp2191His)
c.6634G>C (p.Asp2212His)
c.6631G>C (p.Asp2211His)
c.6577G>C (p.Asp2193His)
c.6578-31G>C (n.6578-31G>C)
c.6502G>C (p.Asp2168His)
c.6097G>C (p.Asp2033His)
c.5455G>C (p.Asp1819His)
c.2965G>C (p.Asp989His)
n.6880G>C
10g.71793370G=CA1918874336CDH23c.6442G= (p.Asp2148=)
c.6457G= (p.Asp2153=)
c.6637G= (p.Asp2213=)
c.6571G= (p.Asp2191=)
c.6634G= (p.Asp2212=)
c.6631G= (p.Asp2211=)
c.6577G= (p.Asp2193=)
c.6578-31G= (n.6578-31G=)
c.6502G= (p.Asp2168=)
c.6097G= (p.Asp2033=)
c.5455G= (p.Asp1819=)
c.2965G= (p.Asp989=)
n.6880G=
10g.71793370G>TCA377155034CDH23c.6442G>T (p.Asp2148Tyr)
c.6457G>T (p.Asp2153Tyr)
c.6637G>T (p.Asp2213Tyr)
c.6571G>T (p.Asp2191Tyr)
c.6634G>T (p.Asp2212Tyr)
c.6631G>T (p.Asp2211Tyr)
c.6577G>T (p.Asp2193Tyr)
c.6578-31G>T (n.6578-31G>T)
c.6502G>T (p.Asp2168Tyr)
c.6097G>T (p.Asp2033Tyr)
c.5455G>T (p.Asp1819Tyr)
c.2965G>T (p.Asp989Tyr)
n.6880G>T
10g.71793371A=CA1918874342CDH23c.6443A= (p.Asp2148=)
c.6458A= (p.Asp2153=)
c.6638A= (p.Asp2213=)
c.6572A= (p.Asp2191=)
c.6635A= (p.Asp2212=)
c.6632A= (p.Asp2211=)
c.6578A= (p.Asp2193=)
c.6578-30A= (n.6578-30A=)
c.6503A= (p.Asp2168=)
c.6098A= (p.Asp2033=)
c.5456A= (p.Asp1819=)
c.2966A= (p.Asp989=)
n.6881A=
10g.71793371A>CCA377155035CDH23c.6443A>C (p.Asp2148Ala)
c.6458A>C (p.Asp2153Ala)
c.6638A>C (p.Asp2213Ala)
c.6572A>C (p.Asp2191Ala)
c.6635A>C (p.Asp2212Ala)
c.6632A>C (p.Asp2211Ala)
c.6578A>C (p.Asp2193Ala)
c.6578-30A>C (n.6578-30A>C)
c.6503A>C (p.Asp2168Ala)
c.6098A>C (p.Asp2033Ala)
c.5456A>C (p.Asp1819Ala)
c.2966A>C (p.Asp989Ala)
n.6881A>C
10g.71793371A>GCA5546084CDH23c.6443A>G (p.Asp2148Gly)
c.6458A>G (p.Asp2153Gly)
c.6638A>G (p.Asp2213Gly)
c.6572A>G (p.Asp2191Gly)
c.6635A>G (p.Asp2212Gly)
c.6632A>G (p.Asp2211Gly)
c.6578A>G (p.Asp2193Gly)
c.6578-30A>G (n.6578-30A>G)
c.6503A>G (p.Asp2168Gly)
c.6098A>G (p.Asp2033Gly)
c.5456A>G (p.Asp1819Gly)
c.2966A>G (p.Asp989Gly)
n.6881A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793371A>TCA377155037CDH23c.6443A>T (p.Asp2148Val)
c.6458A>T (p.Asp2153Val)
c.6638A>T (p.Asp2213Val)
c.6572A>T (p.Asp2191Val)
c.6635A>T (p.Asp2212Val)
c.6632A>T (p.Asp2211Val)
c.6578A>T (p.Asp2193Val)
c.6578-30A>T (n.6578-30A>T)
c.6503A>T (p.Asp2168Val)
c.6098A>T (p.Asp2033Val)
c.5456A>T (p.Asp1819Val)
c.2966A>T (p.Asp989Val)
n.6881A>T
 dbSNP

Number of alleles fetched