Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched