Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71793231_71793232delinsTGCA1918874149CDH23c.6303_6304delinsTG (p.Asn2101=)
c.6318_6319delinsTG (p.Asn2106=)
c.6498_6499delinsTG (p.Asn2166=)
c.6432_6433delinsTG (p.Asn2144=)
c.6495_6496delinsTG (p.Asn2165=)
c.6492_6493delinsTG (p.Asn2164=)
c.6438_6439delinsTG (p.Asn2146=)
c.6363_6364delinsTG (p.Asn2121=)
c.5958_5959delinsTG (p.Asn1986=)
c.5316_5317delinsTG (p.Asn1772=)
c.2826_2827delinsTG (p.Asn942=)
n.6741_6742delinsTG
10g.71793232G>ACA377154164CDH23c.6304G>A (p.Gly2102Arg)
c.6319G>A (p.Gly2107Arg)
c.6499G>A (p.Gly2167Arg)
c.6433G>A (p.Gly2145Arg)
c.6496G>A (p.Gly2166Arg)
c.6493G>A (p.Gly2165Arg)
c.6439G>A (p.Gly2147Arg)
c.6364G>A (p.Gly2122Arg)
c.5959G>A (p.Gly1987Arg)
c.5317G>A (p.Gly1773Arg)
c.2827G>A (p.Gly943Arg)
n.6742G>A
 dbSNP
10g.71793232G>CCA377154165CDH23c.6304G>C (p.Gly2102Arg)
c.6319G>C (p.Gly2107Arg)
c.6499G>C (p.Gly2167Arg)
c.6433G>C (p.Gly2145Arg)
c.6496G>C (p.Gly2166Arg)
c.6493G>C (p.Gly2165Arg)
c.6439G>C (p.Gly2147Arg)
c.6364G>C (p.Gly2122Arg)
c.5959G>C (p.Gly1987Arg)
c.5317G>C (p.Gly1773Arg)
c.2827G>C (p.Gly943Arg)
n.6742G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71793232G=CA1918874151CDH23c.6304G= (p.Gly2102=)
c.6319G= (p.Gly2107=)
c.6499G= (p.Gly2167=)
c.6433G= (p.Gly2145=)
c.6496G= (p.Gly2166=)
c.6493G= (p.Gly2165=)
c.6439G= (p.Gly2147=)
c.6364G= (p.Gly2122=)
c.5959G= (p.Gly1987=)
c.5317G= (p.Gly1773=)
c.2827G= (p.Gly943=)
n.6742G=
10g.71793232G>TCA209465968CDH23c.6304G>T (p.Gly2102Trp)
c.6319G>T (p.Gly2107Trp)
c.6499G>T (p.Gly2167Trp)
c.6433G>T (p.Gly2145Trp)
c.6496G>T (p.Gly2166Trp)
c.6493G>T (p.Gly2165Trp)
c.6439G>T (p.Gly2147Trp)
c.6364G>T (p.Gly2122Trp)
c.5959G>T (p.Gly1987Trp)
c.5317G>T (p.Gly1773Trp)
c.2827G>T (p.Gly943Trp)
n.6742G>T
 dbSNP gnomAD v4
10g.71793235delCA929791265CDH23c.6307del (p.Glu2103SerfsTer6)
c.6322del (p.Glu2108SerfsTer6)
c.6502del (p.Glu2168SerfsTer6)
c.6436del (p.Glu2146SerfsTer6)
c.6499del (p.Glu2167SerfsTer6)
c.6496del (p.Glu2166SerfsTer6)
c.6442del (p.Glu2148SerfsTer6)
c.6367del (p.Glu2123SerfsTer6)
c.5962del (p.Glu1988SerfsTer6)
c.5320del (p.Glu1774SerfsTer6)
c.2830del (p.Glu944SerfsTer6)
n.6745del
 dbSNP gnomAD v3 gnomAD v4
10g.71793233G>ACA377154171CDH23c.6305G>A (p.Gly2102Glu)
c.6320G>A (p.Gly2107Glu)
c.6500G>A (p.Gly2167Glu)
c.6434G>A (p.Gly2145Glu)
c.6497G>A (p.Gly2166Glu)
c.6494G>A (p.Gly2165Glu)
c.6440G>A (p.Gly2147Glu)
c.6365G>A (p.Gly2122Glu)
c.5960G>A (p.Gly1987Glu)
c.5318G>A (p.Gly1773Glu)
c.2828G>A (p.Gly943Glu)
n.6743G>A
 dbSNP gnomAD v2
10g.71793233G>CCA377154174CDH23c.6305G>C (p.Gly2102Ala)
c.6320G>C (p.Gly2107Ala)
c.6500G>C (p.Gly2167Ala)
c.6434G>C (p.Gly2145Ala)
c.6497G>C (p.Gly2166Ala)
c.6494G>C (p.Gly2165Ala)
c.6440G>C (p.Gly2147Ala)
c.6365G>C (p.Gly2122Ala)
c.5960G>C (p.Gly1987Ala)
c.5318G>C (p.Gly1773Ala)
c.2828G>C (p.Gly943Ala)
n.6743G>C
 dbSNP gnomAD v4
10g.71793233G=CA1918874153CDH23c.6305G= (p.Gly2102=)
c.6320G= (p.Gly2107=)
c.6500G= (p.Gly2167=)
c.6434G= (p.Gly2145=)
c.6497G= (p.Gly2166=)
c.6494G= (p.Gly2165=)
c.6440G= (p.Gly2147=)
c.6365G= (p.Gly2122=)
c.5960G= (p.Gly1987=)
c.5318G= (p.Gly1773=)
c.2828G= (p.Gly943=)
n.6743G=
10g.71793233G>TCA377154177CDH23c.6305G>T (p.Gly2102Val)
c.6320G>T (p.Gly2107Val)
c.6500G>T (p.Gly2167Val)
c.6434G>T (p.Gly2145Val)
c.6497G>T (p.Gly2166Val)
c.6494G>T (p.Gly2165Val)
c.6440G>T (p.Gly2147Val)
c.6365G>T (p.Gly2122Val)
c.5960G>T (p.Gly1987Val)
c.5318G>T (p.Gly1773Val)
c.2828G>T (p.Gly943Val)
n.6743G>T
 dbSNP
10g.71793234G>ACA5546052CDH23c.6306G>A (p.Gly2102=)
c.6321G>A (p.Gly2107=)
c.6501G>A (p.Gly2167=)
c.6435G>A (p.Gly2145=)
c.6498G>A (p.Gly2166=)
c.6495G>A (p.Gly2165=)
c.6441G>A (p.Gly2147=)
c.6366G>A (p.Gly2122=)
c.5961G>A (p.Gly1987=)
c.5319G>A (p.Gly1773=)
c.2829G>A (p.Gly943=)
n.6744G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793234G=CA1918874155CDH23c.6306G= (p.Gly2102=)
c.6321G= (p.Gly2107=)
c.6501G= (p.Gly2167=)
c.6435G= (p.Gly2145=)
c.6498G= (p.Gly2166=)
c.6495G= (p.Gly2165=)
c.6441G= (p.Gly2147=)
c.6366G= (p.Gly2122=)
c.5961G= (p.Gly1987=)
c.5319G= (p.Gly1773=)
c.2829G= (p.Gly943=)
n.6744G=
10g.71793235G>ACA377154185CDH23c.6307G>A (p.Glu2103Lys)
c.6322G>A (p.Glu2108Lys)
c.6502G>A (p.Glu2168Lys)
c.6436G>A (p.Glu2146Lys)
c.6499G>A (p.Glu2167Lys)
c.6496G>A (p.Glu2166Lys)
c.6442G>A (p.Glu2148Lys)
c.6367G>A (p.Glu2123Lys)
c.5962G>A (p.Glu1988Lys)
c.5320G>A (p.Glu1774Lys)
c.2830G>A (p.Glu944Lys)
n.6745G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71793235G>CCA377154193CDH23c.6307G>C (p.Glu2103Gln)
c.6322G>C (p.Glu2108Gln)
c.6502G>C (p.Glu2168Gln)
c.6436G>C (p.Glu2146Gln)
c.6499G>C (p.Glu2167Gln)
c.6496G>C (p.Glu2166Gln)
c.6442G>C (p.Glu2148Gln)
c.6367G>C (p.Glu2123Gln)
c.5962G>C (p.Glu1988Gln)
c.5320G>C (p.Glu1774Gln)
c.2830G>C (p.Glu944Gln)
n.6745G>C
 dbSNP
10g.71793235G=CA1918874156CDH23c.6307G= (p.Glu2103=)
c.6322G= (p.Glu2108=)
c.6502G= (p.Glu2168=)
c.6436G= (p.Glu2146=)
c.6499G= (p.Glu2167=)
c.6496G= (p.Glu2166=)
c.6442G= (p.Glu2148=)
c.6367G= (p.Glu2123=)
c.5962G= (p.Glu1988=)
c.5320G= (p.Glu1774=)
c.2830G= (p.Glu944=)
n.6745G=
10g.71793235G>TCA377154196CDH23c.6307G>T (p.Glu2103Ter)
c.6322G>T (p.Glu2108Ter)
c.6502G>T (p.Glu2168Ter)
c.6436G>T (p.Glu2146Ter)
c.6499G>T (p.Glu2167Ter)
c.6496G>T (p.Glu2166Ter)
c.6442G>T (p.Glu2148Ter)
c.6367G>T (p.Glu2123Ter)
c.5962G>T (p.Glu1988Ter)
c.5320G>T (p.Glu1774Ter)
c.2830G>T (p.Glu944Ter)
n.6745G>T
 ClinVar dbSNP gnomAD v4
10g.71793236A>CCA377154197CDH23c.6308A>C (p.Glu2103Ala)
c.6323A>C (p.Glu2108Ala)
c.6503A>C (p.Glu2168Ala)
c.6437A>C (p.Glu2146Ala)
c.6500A>C (p.Glu2167Ala)
c.6497A>C (p.Glu2166Ala)
c.6443A>C (p.Glu2148Ala)
c.6368A>C (p.Glu2123Ala)
c.5963A>C (p.Glu1988Ala)
c.5321A>C (p.Glu1774Ala)
c.2831A>C (p.Glu944Ala)
n.6746A>C
10g.71793236A>GCA377154198CDH23c.6308A>G (p.Glu2103Gly)
c.6323A>G (p.Glu2108Gly)
c.6503A>G (p.Glu2168Gly)
c.6437A>G (p.Glu2146Gly)
c.6500A>G (p.Glu2167Gly)
c.6497A>G (p.Glu2166Gly)
c.6443A>G (p.Glu2148Gly)
c.6368A>G (p.Glu2123Gly)
c.5963A>G (p.Glu1988Gly)
c.5321A>G (p.Glu1774Gly)
c.2831A>G (p.Glu944Gly)
n.6746A>G
 dbSNP
10g.71793236A>TCA377154199CDH23c.6308A>T (p.Glu2103Val)
c.6323A>T (p.Glu2108Val)
c.6503A>T (p.Glu2168Val)
c.6437A>T (p.Glu2146Val)
c.6500A>T (p.Glu2167Val)
c.6497A>T (p.Glu2166Val)
c.6443A>T (p.Glu2148Val)
c.6368A>T (p.Glu2123Val)
c.5963A>T (p.Glu1988Val)
c.5321A>T (p.Glu1774Val)
c.2831A>T (p.Glu944Val)
n.6746A>T
10g.71793237G>ACA594705918CDH23c.6309G>A (p.Glu2103=)
c.6324G>A (p.Glu2108=)
c.6504G>A (p.Glu2168=)
c.6438G>A (p.Glu2146=)
c.6501G>A (p.Glu2167=)
c.6498G>A (p.Glu2166=)
c.6444G>A (p.Glu2148=)
c.6369G>A (p.Glu2123=)
c.5964G>A (p.Glu1988=)
c.5322G>A (p.Glu1774=)
c.2832G>A (p.Glu944=)
n.6747G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793237G>CCA377154200CDH23c.6309G>C (p.Glu2103Asp)
c.6324G>C (p.Glu2108Asp)
c.6504G>C (p.Glu2168Asp)
c.6438G>C (p.Glu2146Asp)
c.6501G>C (p.Glu2167Asp)
c.6498G>C (p.Glu2166Asp)
c.6444G>C (p.Glu2148Asp)
c.6369G>C (p.Glu2123Asp)
c.5964G>C (p.Glu1988Asp)
c.5322G>C (p.Glu1774Asp)
c.2832G>C (p.Glu944Asp)
n.6747G>C
10g.71793237G=CA1918874158CDH23c.6309G= (p.Glu2103=)
c.6324G= (p.Glu2108=)
c.6504G= (p.Glu2168=)
c.6438G= (p.Glu2146=)
c.6501G= (p.Glu2167=)
c.6498G= (p.Glu2166=)
c.6444G= (p.Glu2148=)
c.6369G= (p.Glu2123=)
c.5964G= (p.Glu1988=)
c.5322G= (p.Glu1774=)
c.2832G= (p.Glu944=)
n.6747G=
10g.71793237G>TCA377154202CDH23c.6309G>T (p.Glu2103Asp)
c.6324G>T (p.Glu2108Asp)
c.6504G>T (p.Glu2168Asp)
c.6438G>T (p.Glu2146Asp)
c.6501G>T (p.Glu2167Asp)
c.6498G>T (p.Glu2166Asp)
c.6444G>T (p.Glu2148Asp)
c.6369G>T (p.Glu2123Asp)
c.5964G>T (p.Glu1988Asp)
c.5322G>T (p.Glu1774Asp)
c.2832G>T (p.Glu944Asp)
n.6747G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71793238C>ACA377154206CDH23c.6310C>A (p.Leu2104Met)
c.6325C>A (p.Leu2109Met)
c.6505C>A (p.Leu2169Met)
c.6439C>A (p.Leu2147Met)
c.6502C>A (p.Leu2168Met)
c.6499C>A (p.Leu2167Met)
c.6445C>A (p.Leu2149Met)
c.6370C>A (p.Leu2124Met)
c.5965C>A (p.Leu1989Met)
c.5323C>A (p.Leu1775Met)
c.2833C>A (p.Leu945Met)
n.6748C>A
10g.71793238C>GCA377154209CDH23c.6310C>G (p.Leu2104Val)
c.6325C>G (p.Leu2109Val)
c.6505C>G (p.Leu2169Val)
c.6439C>G (p.Leu2147Val)
c.6502C>G (p.Leu2168Val)
c.6499C>G (p.Leu2167Val)
c.6445C>G (p.Leu2149Val)
c.6370C>G (p.Leu2124Val)
c.5965C>G (p.Leu1989Val)
c.5323C>G (p.Leu1775Val)
c.2833C>G (p.Leu945Val)
n.6748C>G
 gnomAD v4
10g.71793238C>TCA2722285418CDH23c.6310C>T (p.Leu2104=)
c.6325C>T (p.Leu2109=)
c.6505C>T (p.Leu2169=)
c.6439C>T (p.Leu2147=)
c.6502C>T (p.Leu2168=)
c.6499C>T (p.Leu2167=)
c.6445C>T (p.Leu2149=)
c.6370C>T (p.Leu2124=)
c.5965C>T (p.Leu1989=)
c.5323C>T (p.Leu1775=)
c.2833C>T (p.Leu945=)
n.6748C>T
 dbSNP
10g.71793239T>ACA377154217CDH23c.6311T>A (p.Leu2104Gln)
c.6326T>A (p.Leu2109Gln)
c.6506T>A (p.Leu2169Gln)
c.6440T>A (p.Leu2147Gln)
c.6503T>A (p.Leu2168Gln)
c.6500T>A (p.Leu2167Gln)
c.6446T>A (p.Leu2149Gln)
c.6371T>A (p.Leu2124Gln)
c.5966T>A (p.Leu1989Gln)
c.5324T>A (p.Leu1775Gln)
c.2834T>A (p.Leu945Gln)
n.6749T>A
10g.71793239T>CCA377154219CDH23c.6311T>C (p.Leu2104Pro)
c.6326T>C (p.Leu2109Pro)
c.6506T>C (p.Leu2169Pro)
c.6440T>C (p.Leu2147Pro)
c.6503T>C (p.Leu2168Pro)
c.6500T>C (p.Leu2167Pro)
c.6446T>C (p.Leu2149Pro)
c.6371T>C (p.Leu2124Pro)
c.5966T>C (p.Leu1989Pro)
c.5324T>C (p.Leu1775Pro)
c.2834T>C (p.Leu945Pro)
n.6749T>C
10g.71793239T>GCA377154224CDH23c.6311T>G (p.Leu2104Arg)
c.6326T>G (p.Leu2109Arg)
c.6506T>G (p.Leu2169Arg)
c.6440T>G (p.Leu2147Arg)
c.6503T>G (p.Leu2168Arg)
c.6500T>G (p.Leu2167Arg)
c.6446T>G (p.Leu2149Arg)
c.6371T>G (p.Leu2124Arg)
c.5966T>G (p.Leu1989Arg)
c.5324T>G (p.Leu1775Arg)
c.2834T>G (p.Leu945Arg)
n.6749T>G
10g.71793239_71793240delinsTGCA1918874160CDH23c.6311_6312delinsTG (p.Leu2104=)
c.6326_6327delinsTG (p.Leu2109=)
c.6506_6507delinsTG (p.Leu2169=)
c.6440_6441delinsTG (p.Leu2147=)
c.6503_6504delinsTG (p.Leu2168=)
c.6500_6501delinsTG (p.Leu2167=)
c.6446_6447delinsTG (p.Leu2149=)
c.6371_6372delinsTG (p.Leu2124=)
c.5966_5967delinsTG (p.Leu1989=)
c.5324_5325delinsTG (p.Leu1775=)
c.2834_2835delinsTG (p.Leu945=)
n.6749_6750delinsTG
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.71793240G>ACA2722065365CDH23c.6312G>A (p.Leu2104=)
c.6327G>A (p.Leu2109=)
c.6507G>A (p.Leu2169=)
c.6441G>A (p.Leu2147=)
c.6504G>A (p.Leu2168=)
c.6501G>A (p.Leu2167=)
c.6447G>A (p.Leu2149=)
c.6372G>A (p.Leu2124=)
c.5967G>A (p.Leu1989=)
c.5325G>A (p.Leu1775=)
c.2835G>A (p.Leu945=)
n.6750G>A
 dbSNP
10g.71793240G=CA1918874162CDH23c.6312G= (p.Leu2104=)
c.6327G= (p.Leu2109=)
c.6507G= (p.Leu2169=)
c.6441G= (p.Leu2147=)
c.6504G= (p.Leu2168=)
c.6501G= (p.Leu2167=)
c.6447G= (p.Leu2149=)
c.6372G= (p.Leu2124=)
c.5967G= (p.Leu1989=)
c.5325G= (p.Leu1775=)
c.2835G= (p.Leu945=)
n.6750G=
10g.71793240G>TCA1918874163CDH23c.6312G>T (p.Leu2104=)
c.6327G>T (p.Leu2109=)
c.6507G>T (p.Leu2169=)
c.6441G>T (p.Leu2147=)
c.6504G>T (p.Leu2168=)
c.6501G>T (p.Leu2167=)
c.6447G>T (p.Leu2149=)
c.6372G>T (p.Leu2124=)
c.5967G>T (p.Leu1989=)
c.5325G>T (p.Leu1775=)
c.2835G>T (p.Leu945=)
n.6750G>T
 dbSNP gnomAD v4
10g.71793241delCA5546053CDH23c.6313del (p.Val2105SerfsTer4)
c.6328del (p.Val2110SerfsTer4)
c.6508del (p.Val2170SerfsTer4)
c.6442del (p.Val2148SerfsTer4)
c.6505del (p.Val2169SerfsTer4)
c.6502del (p.Val2168SerfsTer4)
c.6448del (p.Val2150SerfsTer4)
c.6373del (p.Val2125SerfsTer4)
c.5968del (p.Val1990SerfsTer4)
c.5326del (p.Val1776SerfsTer4)
c.2836del (p.Val946SerfsTer4)
n.6751del
 dbSNP ExAC gnomAD v2
10g.71793241G>ACA377154229CDH23c.6313G>A (p.Val2105Ile)
c.6328G>A (p.Val2110Ile)
c.6508G>A (p.Val2170Ile)
c.6442G>A (p.Val2148Ile)
c.6505G>A (p.Val2169Ile)
c.6502G>A (p.Val2168Ile)
c.6448G>A (p.Val2150Ile)
c.6373G>A (p.Val2125Ile)
c.5968G>A (p.Val1990Ile)
c.5326G>A (p.Val1776Ile)
c.2836G>A (p.Val946Ile)
n.6751G>A
 dbSNP
10g.71793241G>CCA377154246CDH23c.6313G>C (p.Val2105Leu)
c.6328G>C (p.Val2110Leu)
c.6508G>C (p.Val2170Leu)
c.6442G>C (p.Val2148Leu)
c.6505G>C (p.Val2169Leu)
c.6502G>C (p.Val2168Leu)
c.6448G>C (p.Val2150Leu)
c.6373G>C (p.Val2125Leu)
c.5968G>C (p.Val1990Leu)
c.5326G>C (p.Val1776Leu)
c.2836G>C (p.Val946Leu)
n.6751G>C
 gnomAD v4
10g.71793241G=CA1918874165CDH23c.6313G= (p.Val2105=)
c.6328G= (p.Val2110=)
c.6508G= (p.Val2170=)
c.6442G= (p.Val2148=)
c.6505G= (p.Val2169=)
c.6502G= (p.Val2168=)
c.6448G= (p.Val2150=)
c.6373G= (p.Val2125=)
c.5968G= (p.Val1990=)
c.5326G= (p.Val1776=)
c.2836G= (p.Val946=)
n.6751G=
10g.71793241G>TCA377154249CDH23c.6313G>T (p.Val2105Phe)
c.6328G>T (p.Val2110Phe)
c.6508G>T (p.Val2170Phe)
c.6442G>T (p.Val2148Phe)
c.6505G>T (p.Val2169Phe)
c.6502G>T (p.Val2168Phe)
c.6448G>T (p.Val2150Phe)
c.6373G>T (p.Val2125Phe)
c.5968G>T (p.Val1990Phe)
c.5326G>T (p.Val1776Phe)
c.2836G>T (p.Val946Phe)
n.6751G>T
10g.71793242T>ACA377154252CDH23c.6314T>A (p.Val2105Asp)
c.6329T>A (p.Val2110Asp)
c.6509T>A (p.Val2170Asp)
c.6443T>A (p.Val2148Asp)
c.6506T>A (p.Val2169Asp)
c.6503T>A (p.Val2168Asp)
c.6449T>A (p.Val2150Asp)
c.6374T>A (p.Val2125Asp)
c.5969T>A (p.Val1990Asp)
c.5327T>A (p.Val1776Asp)
c.2837T>A (p.Val946Asp)
n.6752T>A
10g.71793242T>CCA377154254CDH23c.6314T>C (p.Val2105Ala)
c.6329T>C (p.Val2110Ala)
c.6509T>C (p.Val2170Ala)
c.6443T>C (p.Val2148Ala)
c.6506T>C (p.Val2169Ala)
c.6503T>C (p.Val2168Ala)
c.6449T>C (p.Val2150Ala)
c.6374T>C (p.Val2125Ala)
c.5969T>C (p.Val1990Ala)
c.5327T>C (p.Val1776Ala)
c.2837T>C (p.Val946Ala)
n.6752T>C
10g.71793242T>GCA377154256CDH23c.6314T>G (p.Val2105Gly)
c.6329T>G (p.Val2110Gly)
c.6509T>G (p.Val2170Gly)
c.6443T>G (p.Val2148Gly)
c.6506T>G (p.Val2169Gly)
c.6503T>G (p.Val2168Gly)
c.6449T>G (p.Val2150Gly)
c.6374T>G (p.Val2125Gly)
c.5969T>G (p.Val1990Gly)
c.5327T>G (p.Val1776Gly)
c.2837T>G (p.Val946Gly)
n.6752T>G
10g.71793243C>ACA1918874167CDH23c.6315C>A (p.Val2105=)
c.6330C>A (p.Val2110=)
c.6510C>A (p.Val2170=)
c.6444C>A (p.Val2148=)
c.6507C>A (p.Val2169=)
c.6504C>A (p.Val2168=)
c.6450C>A (p.Val2150=)
c.6375C>A (p.Val2125=)
c.5970C>A (p.Val1990=)
c.5328C>A (p.Val1776=)
c.2838C>A (p.Val946=)
n.6753C>A
 dbSNP gnomAD v4
10g.71793243C=CA1918874166CDH23c.6315C= (p.Val2105=)
c.6330C= (p.Val2110=)
c.6510C= (p.Val2170=)
c.6444C= (p.Val2148=)
c.6507C= (p.Val2169=)
c.6504C= (p.Val2168=)
c.6450C= (p.Val2150=)
c.6375C= (p.Val2125=)
c.5970C= (p.Val1990=)
c.5328C= (p.Val1776=)
c.2838C= (p.Val946=)
n.6753C=
10g.71793243C>GCA2722051847CDH23c.6315C>G (p.Val2105=)
c.6330C>G (p.Val2110=)
c.6510C>G (p.Val2170=)
c.6444C>G (p.Val2148=)
c.6507C>G (p.Val2169=)
c.6504C>G (p.Val2168=)
c.6450C>G (p.Val2150=)
c.6375C>G (p.Val2125=)
c.5970C>G (p.Val1990=)
c.5328C>G (p.Val1776=)
c.2838C>G (p.Val946=)
n.6753C>G
 dbSNP
10g.71793243C>TCA2739275742CDH23c.6315C>T (p.Val2105=)
c.6330C>T (p.Val2110=)
c.6510C>T (p.Val2170=)
c.6444C>T (p.Val2148=)
c.6507C>T (p.Val2169=)
c.6504C>T (p.Val2168=)
c.6450C>T (p.Val2150=)
c.6375C>T (p.Val2125=)
c.5970C>T (p.Val1990=)
c.5328C>T (p.Val1776=)
c.2838C>T (p.Val946=)
n.6753C>T
 ClinVar
10g.71793244T>ACA377154259CDH23c.6316T>A (p.Tyr2106Asn)
c.6331T>A (p.Tyr2111Asn)
c.6511T>A (p.Tyr2171Asn)
c.6445T>A (p.Tyr2149Asn)
c.6508T>A (p.Tyr2170Asn)
c.6505T>A (p.Tyr2169Asn)
c.6451T>A (p.Tyr2151Asn)
c.6376T>A (p.Tyr2126Asn)
c.5971T>A (p.Tyr1991Asn)
c.5329T>A (p.Tyr1777Asn)
c.2839T>A (p.Tyr947Asn)
n.6754T>A
10g.71793244T>CCA377154266CDH23c.6316T>C (p.Tyr2106His)
c.6331T>C (p.Tyr2111His)
c.6511T>C (p.Tyr2171His)
c.6445T>C (p.Tyr2149His)
c.6508T>C (p.Tyr2170His)
c.6505T>C (p.Tyr2169His)
c.6451T>C (p.Tyr2151His)
c.6376T>C (p.Tyr2126His)
c.5971T>C (p.Tyr1991His)
c.5329T>C (p.Tyr1777His)
c.2839T>C (p.Tyr947His)
n.6754T>C
10g.71793244T>GCA377154264CDH23c.6316T>G (p.Tyr2106Asp)
c.6331T>G (p.Tyr2111Asp)
c.6511T>G (p.Tyr2171Asp)
c.6445T>G (p.Tyr2149Asp)
c.6508T>G (p.Tyr2170Asp)
c.6505T>G (p.Tyr2169Asp)
c.6451T>G (p.Tyr2151Asp)
c.6376T>G (p.Tyr2126Asp)
c.5971T>G (p.Tyr1991Asp)
c.5329T>G (p.Tyr1777Asp)
c.2839T>G (p.Tyr947Asp)
n.6754T>G
10g.71793245A>CCA377154268CDH23c.6317A>C (p.Tyr2106Ser)
c.6332A>C (p.Tyr2111Ser)
c.6512A>C (p.Tyr2171Ser)
c.6446A>C (p.Tyr2149Ser)
c.6509A>C (p.Tyr2170Ser)
c.6506A>C (p.Tyr2169Ser)
c.6452A>C (p.Tyr2151Ser)
c.6377A>C (p.Tyr2126Ser)
c.5972A>C (p.Tyr1991Ser)
c.5330A>C (p.Tyr1777Ser)
c.2840A>C (p.Tyr947Ser)
n.6755A>C
10g.71793245A>GCA377154270CDH23c.6317A>G (p.Tyr2106Cys)
c.6332A>G (p.Tyr2111Cys)
c.6512A>G (p.Tyr2171Cys)
c.6446A>G (p.Tyr2149Cys)
c.6509A>G (p.Tyr2170Cys)
c.6506A>G (p.Tyr2169Cys)
c.6452A>G (p.Tyr2151Cys)
c.6377A>G (p.Tyr2126Cys)
c.5972A>G (p.Tyr1991Cys)
c.5330A>G (p.Tyr1777Cys)
c.2840A>G (p.Tyr947Cys)
n.6755A>G
10g.71793245A>TCA377154273CDH23c.6317A>T (p.Tyr2106Phe)
c.6332A>T (p.Tyr2111Phe)
c.6512A>T (p.Tyr2171Phe)
c.6446A>T (p.Tyr2149Phe)
c.6509A>T (p.Tyr2170Phe)
c.6506A>T (p.Tyr2169Phe)
c.6452A>T (p.Tyr2151Phe)
c.6377A>T (p.Tyr2126Phe)
c.5972A>T (p.Tyr1991Phe)
c.5330A>T (p.Tyr1777Phe)
c.2840A>T (p.Tyr947Phe)
n.6755A>T
10g.71793246C>ACA377154276CDH23c.6318C>A (p.Tyr2106Ter)
c.6333C>A (p.Tyr2111Ter)
c.6513C>A (p.Tyr2171Ter)
c.6447C>A (p.Tyr2149Ter)
c.6510C>A (p.Tyr2170Ter)
c.6507C>A (p.Tyr2169Ter)
c.6453C>A (p.Tyr2151Ter)
c.6378C>A (p.Tyr2126Ter)
c.5973C>A (p.Tyr1991Ter)
c.5331C>A (p.Tyr1777Ter)
c.2841C>A (p.Tyr947Ter)
n.6756C>A
10g.71793246C>GCA377154277CDH23c.6318C>G (p.Tyr2106Ter)
c.6333C>G (p.Tyr2111Ter)
c.6513C>G (p.Tyr2171Ter)
c.6447C>G (p.Tyr2149Ter)
c.6510C>G (p.Tyr2170Ter)
c.6507C>G (p.Tyr2169Ter)
c.6453C>G (p.Tyr2151Ter)
c.6378C>G (p.Tyr2126Ter)
c.5973C>G (p.Tyr1991Ter)
c.5331C>G (p.Tyr1777Ter)
c.2841C>G (p.Tyr947Ter)
n.6756C>G
 dbSNP
10g.71793247C>ACA2499220348CDH23c.6319C>A (p.Arg2107=)
c.6334C>A (p.Arg2112=)
c.6514C>A (p.Arg2172=)
c.6448C>A (p.Arg2150=)
c.6511C>A (p.Arg2171=)
c.6508C>A (p.Arg2170=)
c.6454C>A (p.Arg2152=)
c.6379C>A (p.Arg2127=)
c.5974C>A (p.Arg1992=)
c.5332C>A (p.Arg1778=)
c.2842C>A (p.Arg948=)
n.6757C>A
 ClinVar dbSNP
10g.71793247C=CA1918874169CDH23c.6319C= (p.Arg2107=)
c.6334C= (p.Arg2112=)
c.6514C= (p.Arg2172=)
c.6448C= (p.Arg2150=)
c.6511C= (p.Arg2171=)
c.6508C= (p.Arg2170=)
c.6454C= (p.Arg2152=)
c.6379C= (p.Arg2127=)
c.5974C= (p.Arg1992=)
c.5332C= (p.Arg1778=)
c.2842C= (p.Arg948=)
n.6757C=
10g.71793247C>GCA377154278CDH23c.6319C>G (p.Arg2107Gly)
c.6334C>G (p.Arg2112Gly)
c.6514C>G (p.Arg2172Gly)
c.6448C>G (p.Arg2150Gly)
c.6511C>G (p.Arg2171Gly)
c.6508C>G (p.Arg2170Gly)
c.6454C>G (p.Arg2152Gly)
c.6379C>G (p.Arg2127Gly)
c.5974C>G (p.Arg1992Gly)
c.5332C>G (p.Arg1778Gly)
c.2842C>G (p.Arg948Gly)
n.6757C>G
 dbSNP gnomAD v4
10g.71793247C>TCA377154279CDH23c.6319C>T (p.Arg2107Ter)
c.6334C>T (p.Arg2112Ter)
c.6514C>T (p.Arg2172Ter)
c.6448C>T (p.Arg2150Ter)
c.6511C>T (p.Arg2171Ter)
c.6508C>T (p.Arg2170Ter)
c.6454C>T (p.Arg2152Ter)
c.6379C>T (p.Arg2127Ter)
c.5974C>T (p.Arg1992Ter)
c.5332C>T (p.Arg1778Ter)
c.2842C>T (p.Arg948Ter)
n.6757C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.71793248G>ACA5546054CDH23c.6320G>A (p.Arg2107Gln)
c.6335G>A (p.Arg2112Gln)
c.6515G>A (p.Arg2172Gln)
c.6449G>A (p.Arg2150Gln)
c.6512G>A (p.Arg2171Gln)
c.6509G>A (p.Arg2170Gln)
c.6455G>A (p.Arg2152Gln)
c.6380G>A (p.Arg2127Gln)
c.5975G>A (p.Arg1992Gln)
c.5333G>A (p.Arg1778Gln)
c.2843G>A (p.Arg948Gln)
n.6758G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71793248G>CCA377154282CDH23c.6320G>C (p.Arg2107Pro)
c.6335G>C (p.Arg2112Pro)
c.6515G>C (p.Arg2172Pro)
c.6449G>C (p.Arg2150Pro)
c.6512G>C (p.Arg2171Pro)
c.6509G>C (p.Arg2170Pro)
c.6455G>C (p.Arg2152Pro)
c.6380G>C (p.Arg2127Pro)
c.5975G>C (p.Arg1992Pro)
c.5333G>C (p.Arg1778Pro)
c.2843G>C (p.Arg948Pro)
n.6758G>C
 dbSNP gnomAD v4
10g.71793248G=CA1918874173CDH23c.6320G= (p.Arg2107=)
c.6335G= (p.Arg2112=)
c.6515G= (p.Arg2172=)
c.6449G= (p.Arg2150=)
c.6512G= (p.Arg2171=)
c.6509G= (p.Arg2170=)
c.6455G= (p.Arg2152=)
c.6380G= (p.Arg2127=)
c.5975G= (p.Arg1992=)
c.5333G= (p.Arg1778=)
c.2843G= (p.Arg948=)
n.6758G=
10g.71793248G>TCA377154284CDH23c.6320G>T (p.Arg2107Leu)
c.6335G>T (p.Arg2112Leu)
c.6515G>T (p.Arg2172Leu)
c.6449G>T (p.Arg2150Leu)
c.6512G>T (p.Arg2171Leu)
c.6509G>T (p.Arg2170Leu)
c.6455G>T (p.Arg2152Leu)
c.6380G>T (p.Arg2127Leu)
c.5975G>T (p.Arg1992Leu)
c.5333G>T (p.Arg1778Leu)
c.2843G>T (p.Arg948Leu)
n.6758G>T
 ClinVar dbSNP gnomAD v4
10g.71793250A=CA1918874177CDH23c.6322A= (p.Ile2108=)
c.6337A= (p.Ile2113=)
c.6517A= (p.Ile2173=)
c.6451A= (p.Ile2151=)
c.6514A= (p.Ile2172=)
c.6511A= (p.Ile2171=)
c.6457A= (p.Ile2153=)
c.6382A= (p.Ile2128=)
c.5977A= (p.Ile1993=)
c.5335A= (p.Ile1779=)
c.2845A= (p.Ile949=)
n.6760A=
10g.71793250A>CCA377154287CDH23c.6322A>C (p.Ile2108Leu)
c.6337A>C (p.Ile2113Leu)
c.6517A>C (p.Ile2173Leu)
c.6451A>C (p.Ile2151Leu)
c.6514A>C (p.Ile2172Leu)
c.6511A>C (p.Ile2171Leu)
c.6457A>C (p.Ile2153Leu)
c.6382A>C (p.Ile2128Leu)
c.5977A>C (p.Ile1993Leu)
c.5335A>C (p.Ile1779Leu)
c.2845A>C (p.Ile949Leu)
n.6760A>C
10g.71793250A>GCA377154294CDH23c.6322A>G (p.Ile2108Val)
c.6337A>G (p.Ile2113Val)
c.6517A>G (p.Ile2173Val)
c.6451A>G (p.Ile2151Val)
c.6514A>G (p.Ile2172Val)
c.6511A>G (p.Ile2171Val)
c.6457A>G (p.Ile2153Val)
c.6382A>G (p.Ile2128Val)
c.5977A>G (p.Ile1993Val)
c.5335A>G (p.Ile1779Val)
c.2845A>G (p.Ile949Val)
n.6760A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71793250A>TCA377154295CDH23c.6322A>T (p.Ile2108Leu)
c.6337A>T (p.Ile2113Leu)
c.6517A>T (p.Ile2173Leu)
c.6451A>T (p.Ile2151Leu)
c.6514A>T (p.Ile2172Leu)
c.6511A>T (p.Ile2171Leu)
c.6457A>T (p.Ile2153Leu)
c.6382A>T (p.Ile2128Leu)
c.5977A>T (p.Ile1993Leu)
c.5335A>T (p.Ile1779Leu)
c.2845A>T (p.Ile949Leu)
n.6760A>T
10g.71793251T>ACA377154296CDH23c.6323T>A (p.Ile2108Lys)
c.6338T>A (p.Ile2113Lys)
c.6518T>A (p.Ile2173Lys)
c.6452T>A (p.Ile2151Lys)
c.6515T>A (p.Ile2172Lys)
c.6512T>A (p.Ile2171Lys)
c.6458T>A (p.Ile2153Lys)
c.6383T>A (p.Ile2128Lys)
c.5978T>A (p.Ile1993Lys)
c.5336T>A (p.Ile1779Lys)
c.2846T>A (p.Ile949Lys)
n.6761T>A
 dbSNP
10g.71793251T>CCA377154298CDH23c.6323T>C (p.Ile2108Thr)
c.6338T>C (p.Ile2113Thr)
c.6518T>C (p.Ile2173Thr)
c.6452T>C (p.Ile2151Thr)
c.6515T>C (p.Ile2172Thr)
c.6512T>C (p.Ile2171Thr)
c.6458T>C (p.Ile2153Thr)
c.6383T>C (p.Ile2128Thr)
c.5978T>C (p.Ile1993Thr)
c.5336T>C (p.Ile1779Thr)
c.2846T>C (p.Ile949Thr)
n.6761T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71793251T>GCA377154297CDH23c.6323T>G (p.Ile2108Arg)
c.6338T>G (p.Ile2113Arg)
c.6518T>G (p.Ile2173Arg)
c.6452T>G (p.Ile2151Arg)
c.6515T>G (p.Ile2172Arg)
c.6512T>G (p.Ile2171Arg)
c.6458T>G (p.Ile2153Arg)
c.6383T>G (p.Ile2128Arg)
c.5978T>G (p.Ile1993Arg)
c.5336T>G (p.Ile1779Arg)
c.2846T>G (p.Ile949Arg)
n.6761T>G
10g.71793251T=CA1918874179CDH23c.6323T= (p.Ile2108=)
c.6338T= (p.Ile2113=)
c.6518T= (p.Ile2173=)
c.6452T= (p.Ile2151=)
c.6515T= (p.Ile2172=)
c.6512T= (p.Ile2171=)
c.6458T= (p.Ile2153=)
c.6383T= (p.Ile2128=)
c.5978T= (p.Ile1993=)
c.5336T= (p.Ile1779=)
c.2846T= (p.Ile949=)
n.6761T=
10g.71793252A>GCA377154300CDH23c.6324A>G (p.Ile2108Met)
c.6339A>G (p.Ile2113Met)
c.6519A>G (p.Ile2173Met)
c.6453A>G (p.Ile2151Met)
c.6516A>G (p.Ile2172Met)
c.6513A>G (p.Ile2171Met)
c.6459A>G (p.Ile2153Met)
c.6384A>G (p.Ile2128Met)
c.5979A>G (p.Ile1993Met)
c.5337A>G (p.Ile1779Met)
c.2847A>G (p.Ile949Met)
n.6762A>G
10g.71793253G>ACA377154309CDH23c.6325G>A (p.Glu2109Lys)
c.6340G>A (p.Glu2114Lys)
c.6520G>A (p.Glu2174Lys)
c.6454G>A (p.Glu2152Lys)
c.6517G>A (p.Glu2173Lys)
c.6514G>A (p.Glu2172Lys)
c.6460G>A (p.Glu2154Lys)
c.6385G>A (p.Glu2129Lys)
c.5980G>A (p.Glu1994Lys)
c.5338G>A (p.Glu1780Lys)
c.2848G>A (p.Glu950Lys)
n.6763G>A
10g.71793253G>CCA377154312CDH23c.6325G>C (p.Glu2109Gln)
c.6340G>C (p.Glu2114Gln)
c.6520G>C (p.Glu2174Gln)
c.6454G>C (p.Glu2152Gln)
c.6517G>C (p.Glu2173Gln)
c.6514G>C (p.Glu2172Gln)
c.6460G>C (p.Glu2154Gln)
c.6385G>C (p.Glu2129Gln)
c.5980G>C (p.Glu1994Gln)
c.5338G>C (p.Glu1780Gln)
c.2848G>C (p.Glu950Gln)
n.6763G>C
10g.71793253G>TCA377154315CDH23c.6325G>T (p.Glu2109Ter)
c.6340G>T (p.Glu2114Ter)
c.6520G>T (p.Glu2174Ter)
c.6454G>T (p.Glu2152Ter)
c.6517G>T (p.Glu2173Ter)
c.6514G>T (p.Glu2172Ter)
c.6460G>T (p.Glu2154Ter)
c.6385G>T (p.Glu2129Ter)
c.5980G>T (p.Glu1994Ter)
c.5338G>T (p.Glu1780Ter)
c.2848G>T (p.Glu950Ter)
n.6763G>T
10g.71793254A>CCA377154317CDH23c.6326A>C (p.Glu2109Ala)
c.6341A>C (p.Glu2114Ala)
c.6521A>C (p.Glu2174Ala)
c.6455A>C (p.Glu2152Ala)
c.6518A>C (p.Glu2173Ala)
c.6515A>C (p.Glu2172Ala)
c.6461A>C (p.Glu2154Ala)
c.6386A>C (p.Glu2129Ala)
c.5981A>C (p.Glu1994Ala)
c.5339A>C (p.Glu1780Ala)
c.2849A>C (p.Glu950Ala)
n.6764A>C
10g.71793254A>GCA377154319CDH23c.6326A>G (p.Glu2109Gly)
c.6341A>G (p.Glu2114Gly)
c.6521A>G (p.Glu2174Gly)
c.6455A>G (p.Glu2152Gly)
c.6518A>G (p.Glu2173Gly)
c.6515A>G (p.Glu2172Gly)
c.6461A>G (p.Glu2154Gly)
c.6386A>G (p.Glu2129Gly)
c.5981A>G (p.Glu1994Gly)
c.5339A>G (p.Glu1780Gly)
c.2849A>G (p.Glu950Gly)
n.6764A>G
 gnomAD v4
10g.71793254A>TCA377154321CDH23c.6326A>T (p.Glu2109Val)
c.6341A>T (p.Glu2114Val)
c.6521A>T (p.Glu2174Val)
c.6455A>T (p.Glu2152Val)
c.6518A>T (p.Glu2173Val)
c.6515A>T (p.Glu2172Val)
c.6461A>T (p.Glu2154Val)
c.6386A>T (p.Glu2129Val)
c.5981A>T (p.Glu1994Val)
c.5339A>T (p.Glu1780Val)
c.2849A>T (p.Glu950Val)
n.6764A>T
10g.71793255A>CCA377154323CDH23c.6327A>C (p.Glu2109Asp)
c.6342A>C (p.Glu2114Asp)
c.6522A>C (p.Glu2174Asp)
c.6456A>C (p.Glu2152Asp)
c.6519A>C (p.Glu2173Asp)
c.6516A>C (p.Glu2172Asp)
c.6462A>C (p.Glu2154Asp)
c.6387A>C (p.Glu2129Asp)
c.5982A>C (p.Glu1994Asp)
c.5340A>C (p.Glu1780Asp)
c.2850A>C (p.Glu950Asp)
n.6765A>C
10g.71793255A>TCA377154327CDH23c.6327A>T (p.Glu2109Asp)
c.6342A>T (p.Glu2114Asp)
c.6522A>T (p.Glu2174Asp)
c.6456A>T (p.Glu2152Asp)
c.6519A>T (p.Glu2173Asp)
c.6516A>T (p.Glu2172Asp)
c.6462A>T (p.Glu2154Asp)
c.6387A>T (p.Glu2129Asp)
c.5982A>T (p.Glu1994Asp)
c.5340A>T (p.Glu1780Asp)
c.2850A>T (p.Glu950Asp)
n.6765A>T
10g.71793256G>ACA5546055CDH23c.6328G>A (p.Ala2110Thr)
c.6343G>A (p.Ala2115Thr)
c.6523G>A (p.Ala2175Thr)
c.6457G>A (p.Ala2153Thr)
c.6520G>A (p.Ala2174Thr)
c.6517G>A (p.Ala2173Thr)
c.6463G>A (p.Ala2155Thr)
c.6388G>A (p.Ala2130Thr)
c.5983G>A (p.Ala1995Thr)
c.5341G>A (p.Ala1781Thr)
c.2851G>A (p.Ala951Thr)
n.6766G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793256G>CCA377154334CDH23c.6328G>C (p.Ala2110Pro)
c.6343G>C (p.Ala2115Pro)
c.6523G>C (p.Ala2175Pro)
c.6457G>C (p.Ala2153Pro)
c.6520G>C (p.Ala2174Pro)
c.6517G>C (p.Ala2173Pro)
c.6463G>C (p.Ala2155Pro)
c.6388G>C (p.Ala2130Pro)
c.5983G>C (p.Ala1995Pro)
c.5341G>C (p.Ala1781Pro)
c.2851G>C (p.Ala951Pro)
n.6766G>C
 dbSNP gnomAD v4
10g.71793256G=CA1918874180CDH23c.6328G= (p.Ala2110=)
c.6343G= (p.Ala2115=)
c.6523G= (p.Ala2175=)
c.6457G= (p.Ala2153=)
c.6520G= (p.Ala2174=)
c.6517G= (p.Ala2173=)
c.6463G= (p.Ala2155=)
c.6388G= (p.Ala2130=)
c.5983G= (p.Ala1995=)
c.5341G= (p.Ala1781=)
c.2851G= (p.Ala951=)
n.6766G=
10g.71793256G>TCA377154330CDH23c.6328G>T (p.Ala2110Ser)
c.6343G>T (p.Ala2115Ser)
c.6523G>T (p.Ala2175Ser)
c.6457G>T (p.Ala2153Ser)
c.6520G>T (p.Ala2174Ser)
c.6517G>T (p.Ala2173Ser)
c.6463G>T (p.Ala2155Ser)
c.6388G>T (p.Ala2130Ser)
c.5983G>T (p.Ala1995Ser)
c.5341G>T (p.Ala1781Ser)
c.2851G>T (p.Ala951Ser)
n.6766G>T
10g.71793257C>ACA377154336CDH23c.6329C>A (p.Ala2110Asp)
c.6344C>A (p.Ala2115Asp)
c.6524C>A (p.Ala2175Asp)
c.6458C>A (p.Ala2153Asp)
c.6521C>A (p.Ala2174Asp)
c.6518C>A (p.Ala2173Asp)
c.6464C>A (p.Ala2155Asp)
c.6389C>A (p.Ala2130Asp)
c.5984C>A (p.Ala1995Asp)
c.5342C>A (p.Ala1781Asp)
c.2852C>A (p.Ala951Asp)
n.6767C>A
10g.71793257C=CA1918874182CDH23c.6329C= (p.Ala2110=)
c.6344C= (p.Ala2115=)
c.6524C= (p.Ala2175=)
c.6458C= (p.Ala2153=)
c.6521C= (p.Ala2174=)
c.6518C= (p.Ala2173=)
c.6464C= (p.Ala2155=)
c.6389C= (p.Ala2130=)
c.5984C= (p.Ala1995=)
c.5342C= (p.Ala1781=)
c.2852C= (p.Ala951=)
n.6767C=
10g.71793257C>GCA377154338CDH23c.6329C>G (p.Ala2110Gly)
c.6344C>G (p.Ala2115Gly)
c.6524C>G (p.Ala2175Gly)
c.6458C>G (p.Ala2153Gly)
c.6521C>G (p.Ala2174Gly)
c.6518C>G (p.Ala2173Gly)
c.6464C>G (p.Ala2155Gly)
c.6389C>G (p.Ala2130Gly)
c.5984C>G (p.Ala1995Gly)
c.5342C>G (p.Ala1781Gly)
c.2852C>G (p.Ala951Gly)
n.6767C>G
10g.71793257C>TCA137531CDH23c.6329C>T (p.Ala2110Val)
c.6344C>T (p.Ala2115Val)
c.6524C>T (p.Ala2175Val)
c.6458C>T (p.Ala2153Val)
c.6521C>T (p.Ala2174Val)
c.6518C>T (p.Ala2173Val)
c.6464C>T (p.Ala2155Val)
c.6389C>T (p.Ala2130Val)
c.5984C>T (p.Ala1995Val)
c.5342C>T (p.Ala1781Val)
c.2852C>T (p.Ala951Val)
n.6767C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793258T>GCA209465999CDH23c.6330T>G (p.Ala2110=)
c.6345T>G (p.Ala2115=)
c.6525T>G (p.Ala2175=)
c.6459T>G (p.Ala2153=)
c.6522T>G (p.Ala2174=)
c.6519T>G (p.Ala2173=)
c.6465T>G (p.Ala2155=)
c.6390T>G (p.Ala2130=)
c.5985T>G (p.Ala1995=)
c.5343T>G (p.Ala1781=)
c.2853T>G (p.Ala951=)
n.6768T>G
 dbSNP gnomAD v3 gnomAD v4
10g.71793258T=CA1918874184CDH23c.6330T= (p.Ala2110=)
c.6345T= (p.Ala2115=)
c.6525T= (p.Ala2175=)
c.6459T= (p.Ala2153=)
c.6522T= (p.Ala2174=)
c.6519T= (p.Ala2173=)
c.6465T= (p.Ala2155=)
c.6390T= (p.Ala2130=)
c.5985T= (p.Ala1995=)
c.5343T= (p.Ala1781=)
c.2853T= (p.Ala951=)
n.6768T=
10g.71793259G>ACA377154348CDH23c.6331G>A (p.Gly2111Arg)
c.6346G>A (p.Gly2116Arg)
c.6526G>A (p.Gly2176Arg)
c.6460G>A (p.Gly2154Arg)
c.6523G>A (p.Gly2175Arg)
c.6520G>A (p.Gly2174Arg)
c.6466G>A (p.Gly2156Arg)
c.6391G>A (p.Gly2131Arg)
c.5986G>A (p.Gly1996Arg)
c.5344G>A (p.Gly1782Arg)
c.2854G>A (p.Gly952Arg)
n.6769G>A
 dbSNP
10g.71793259G>CCA377154352CDH23c.6331G>C (p.Gly2111Arg)
c.6346G>C (p.Gly2116Arg)
c.6526G>C (p.Gly2176Arg)
c.6460G>C (p.Gly2154Arg)
c.6523G>C (p.Gly2175Arg)
c.6520G>C (p.Gly2174Arg)
c.6466G>C (p.Gly2156Arg)
c.6391G>C (p.Gly2131Arg)
c.5986G>C (p.Gly1996Arg)
c.5344G>C (p.Gly1782Arg)
c.2854G>C (p.Gly952Arg)
n.6769G>C
 dbSNP
10g.71793259G>TCA377154357CDH23c.6331G>T (p.Gly2111Trp)
c.6346G>T (p.Gly2116Trp)
c.6526G>T (p.Gly2176Trp)
c.6460G>T (p.Gly2154Trp)
c.6523G>T (p.Gly2175Trp)
c.6520G>T (p.Gly2174Trp)
c.6466G>T (p.Gly2156Trp)
c.6391G>T (p.Gly2131Trp)
c.5986G>T (p.Gly1996Trp)
c.5344G>T (p.Gly1782Trp)
c.2854G>T (p.Gly952Trp)
n.6769G>T
10g.71793262delCA2609580382CDH23c.6334del (p.Ala2112LeufsTer?)
c.6349del (p.Ala2117LeufsTer?)
c.6529del (p.Ala2177LeufsTer?)
c.6463del (p.Ala2155LeufsTer?)
c.6526del (p.Ala2176LeufsTer?)
c.6523del (p.Ala2175LeufsTer?)
c.6469del (p.Ala2157LeufsTer?)
c.6529del (p.Ala2177LeufsTer22)
c.6394del (p.Ala2132LeufsTer?)
c.5989del (p.Ala1997LeufsTer?)
c.5347del (p.Ala1783LeufsTer?)
c.2857del (p.Ala953LeufsTer?)
n.6772del
 gnomAD v4
10g.71793260G>ACA377154360CDH23c.6332G>A (p.Gly2111Glu)
c.6347G>A (p.Gly2116Glu)
c.6527G>A (p.Gly2176Glu)
c.6461G>A (p.Gly2154Glu)
c.6524G>A (p.Gly2175Glu)
c.6521G>A (p.Gly2174Glu)
c.6467G>A (p.Gly2156Glu)
c.6392G>A (p.Gly2131Glu)
c.5987G>A (p.Gly1996Glu)
c.5345G>A (p.Gly1782Glu)
c.2855G>A (p.Gly952Glu)
n.6770G>A
 dbSNP gnomAD v4
10g.71793260G>CCA377154362CDH23c.6332G>C (p.Gly2111Ala)
c.6347G>C (p.Gly2116Ala)
c.6527G>C (p.Gly2176Ala)
c.6461G>C (p.Gly2154Ala)
c.6524G>C (p.Gly2175Ala)
c.6521G>C (p.Gly2174Ala)
c.6467G>C (p.Gly2156Ala)
c.6392G>C (p.Gly2131Ala)
c.5987G>C (p.Gly1996Ala)
c.5345G>C (p.Gly1782Ala)
c.2855G>C (p.Gly952Ala)
n.6770G>C
10g.71793260G>TCA377154363CDH23c.6332G>T (p.Gly2111Val)
c.6347G>T (p.Gly2116Val)
c.6527G>T (p.Gly2176Val)
c.6461G>T (p.Gly2154Val)
c.6524G>T (p.Gly2175Val)
c.6521G>T (p.Gly2174Val)
c.6467G>T (p.Gly2156Val)
c.6392G>T (p.Gly2131Val)
c.5987G>T (p.Gly1996Val)
c.5345G>T (p.Gly1782Val)
c.2855G>T (p.Gly952Val)
n.6770G>T
10g.71793261G>ACA5546056CDH23c.6333G>A (p.Gly2111=)
c.6348G>A (p.Gly2116=)
c.6528G>A (p.Gly2176=)
c.6462G>A (p.Gly2154=)
c.6525G>A (p.Gly2175=)
c.6522G>A (p.Gly2174=)
c.6468G>A (p.Gly2156=)
c.6393G>A (p.Gly2131=)
c.5988G>A (p.Gly1996=)
c.5346G>A (p.Gly1782=)
c.2856G>A (p.Gly952=)
n.6771G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793261G=CA1918874186CDH23c.6333G= (p.Gly2111=)
c.6348G= (p.Gly2116=)
c.6528G= (p.Gly2176=)
c.6462G= (p.Gly2154=)
c.6525G= (p.Gly2175=)
c.6522G= (p.Gly2174=)
c.6468G= (p.Gly2156=)
c.6393G= (p.Gly2131=)
c.5988G= (p.Gly1996=)
c.5346G= (p.Gly1782=)
c.2856G= (p.Gly952=)
n.6771G=
10g.71793262G>ACA5546057CDH23c.6334G>A (p.Ala2112Thr)
c.6349G>A (p.Ala2117Thr)
c.6529G>A (p.Ala2177Thr)
c.6463G>A (p.Ala2155Thr)
c.6526G>A (p.Ala2176Thr)
c.6523G>A (p.Ala2175Thr)
c.6469G>A (p.Ala2157Thr)
c.6394G>A (p.Ala2132Thr)
c.5989G>A (p.Ala1997Thr)
c.5347G>A (p.Ala1783Thr)
c.2857G>A (p.Ala953Thr)
n.6772G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71793262G>CCA377154374CDH23c.6334G>C (p.Ala2112Pro)
c.6349G>C (p.Ala2117Pro)
c.6529G>C (p.Ala2177Pro)
c.6463G>C (p.Ala2155Pro)
c.6526G>C (p.Ala2176Pro)
c.6523G>C (p.Ala2175Pro)
c.6469G>C (p.Ala2157Pro)
c.6394G>C (p.Ala2132Pro)
c.5989G>C (p.Ala1997Pro)
c.5347G>C (p.Ala1783Pro)
c.2857G>C (p.Ala953Pro)
n.6772G>C
10g.71793262G=CA1918874190CDH23c.6334G= (p.Ala2112=)
c.6349G= (p.Ala2117=)
c.6529G= (p.Ala2177=)
c.6463G= (p.Ala2155=)
c.6526G= (p.Ala2176=)
c.6523G= (p.Ala2175=)
c.6469G= (p.Ala2157=)
c.6394G= (p.Ala2132=)
c.5989G= (p.Ala1997=)
c.5347G= (p.Ala1783=)
c.2857G= (p.Ala953=)
n.6772G=
10g.71793262G>TCA377154376CDH23c.6334G>T (p.Ala2112Ser)
c.6349G>T (p.Ala2117Ser)
c.6529G>T (p.Ala2177Ser)
c.6463G>T (p.Ala2155Ser)
c.6526G>T (p.Ala2176Ser)
c.6523G>T (p.Ala2175Ser)
c.6469G>T (p.Ala2157Ser)
c.6394G>T (p.Ala2132Ser)
c.5989G>T (p.Ala1997Ser)
c.5347G>T (p.Ala1783Ser)
c.2857G>T (p.Ala953Ser)
n.6772G>T
 gnomAD v4
10g.71793263C>ACA377154389CDH23c.6335C>A (p.Ala2112Asp)
c.6350C>A (p.Ala2117Asp)
c.6530C>A (p.Ala2177Asp)
c.6464C>A (p.Ala2155Asp)
c.6527C>A (p.Ala2176Asp)
c.6524C>A (p.Ala2175Asp)
c.6470C>A (p.Ala2157Asp)
c.6395C>A (p.Ala2132Asp)
c.5990C>A (p.Ala1997Asp)
c.5348C>A (p.Ala1783Asp)
c.2858C>A (p.Ala953Asp)
n.6773C>A
10g.71793263C=CA1918874193CDH23c.6335C= (p.Ala2112=)
c.6350C= (p.Ala2117=)
c.6530C= (p.Ala2177=)
c.6464C= (p.Ala2155=)
c.6527C= (p.Ala2176=)
c.6524C= (p.Ala2175=)
c.6470C= (p.Ala2157=)
c.6395C= (p.Ala2132=)
c.5990C= (p.Ala1997=)
c.5348C= (p.Ala1783=)
c.2858C= (p.Ala953=)
n.6773C=
10g.71793263C>GCA377154379CDH23c.6335C>G (p.Ala2112Gly)
c.6350C>G (p.Ala2117Gly)
c.6530C>G (p.Ala2177Gly)
c.6464C>G (p.Ala2155Gly)
c.6527C>G (p.Ala2176Gly)
c.6524C>G (p.Ala2175Gly)
c.6470C>G (p.Ala2157Gly)
c.6395C>G (p.Ala2132Gly)
c.5990C>G (p.Ala1997Gly)
c.5348C>G (p.Ala1783Gly)
c.2858C>G (p.Ala953Gly)
n.6773C>G
10g.71793263C>TCA377154387CDH23c.6335C>T (p.Ala2112Val)
c.6350C>T (p.Ala2117Val)
c.6530C>T (p.Ala2177Val)
c.6464C>T (p.Ala2155Val)
c.6527C>T (p.Ala2176Val)
c.6524C>T (p.Ala2175Val)
c.6470C>T (p.Ala2157Val)
c.6395C>T (p.Ala2132Val)
c.5990C>T (p.Ala1997Val)
c.5348C>T (p.Ala1783Val)
c.2858C>T (p.Ala953Val)
n.6773C>T
 dbSNP
10g.71793264T>ACA2722285582CDH23c.6336T>A (p.Ala2112=)
c.6351T>A (p.Ala2117=)
c.6531T>A (p.Ala2177=)
c.6465T>A (p.Ala2155=)
c.6528T>A (p.Ala2176=)
c.6525T>A (p.Ala2175=)
c.6471T>A (p.Ala2157=)
c.6396T>A (p.Ala2132=)
c.5991T>A (p.Ala1997=)
c.5349T>A (p.Ala1783=)
c.2859T>A (p.Ala953=)
n.6774T>A
 dbSNP
10g.71793264T>CCA2697558461CDH23c.6336T>C (p.Ala2112=)
c.6351T>C (p.Ala2117=)
c.6531T>C (p.Ala2177=)
c.6465T>C (p.Ala2155=)
c.6528T>C (p.Ala2176=)
c.6525T>C (p.Ala2175=)
c.6471T>C (p.Ala2157=)
c.6396T>C (p.Ala2132=)
c.5991T>C (p.Ala1997=)
c.5349T>C (p.Ala1783=)
c.2859T>C (p.Ala953=)
n.6774T>C
 ClinVar
10g.71793265C>ACA377154400CDH23c.6337C>A (p.Gln2113Lys)
c.6352C>A (p.Gln2118Lys)
c.6532C>A (p.Gln2178Lys)
c.6466C>A (p.Gln2156Lys)
c.6529C>A (p.Gln2177Lys)
c.6526C>A (p.Gln2176Lys)
c.6472C>A (p.Gln2158Lys)
c.6397C>A (p.Gln2133Lys)
c.5992C>A (p.Gln1998Lys)
c.5350C>A (p.Gln1784Lys)
c.2860C>A (p.Gln954Lys)
n.6775C>A
 dbSNP
10g.71793265C=CA1918874194CDH23c.6337C= (p.Gln2113=)
c.6352C= (p.Gln2118=)
c.6532C= (p.Gln2178=)
c.6466C= (p.Gln2156=)
c.6529C= (p.Gln2177=)
c.6526C= (p.Gln2176=)
c.6472C= (p.Gln2158=)
c.6397C= (p.Gln2133=)
c.5992C= (p.Gln1998=)
c.5350C= (p.Gln1784=)
c.2860C= (p.Gln954=)
n.6775C=
10g.71793265C>GCA377154407CDH23c.6337C>G (p.Gln2113Glu)
c.6352C>G (p.Gln2118Glu)
c.6532C>G (p.Gln2178Glu)
c.6466C>G (p.Gln2156Glu)
c.6529C>G (p.Gln2177Glu)
c.6526C>G (p.Gln2176Glu)
c.6472C>G (p.Gln2158Glu)
c.6397C>G (p.Gln2133Glu)
c.5992C>G (p.Gln1998Glu)
c.5350C>G (p.Gln1784Glu)
c.2860C>G (p.Gln954Glu)
n.6775C>G
10g.71793265C>TCA5546058CDH23c.6337C>T (p.Gln2113Ter)
c.6352C>T (p.Gln2118Ter)
c.6532C>T (p.Gln2178Ter)
c.6466C>T (p.Gln2156Ter)
c.6529C>T (p.Gln2177Ter)
c.6526C>T (p.Gln2176Ter)
c.6472C>T (p.Gln2158Ter)
c.6397C>T (p.Gln2133Ter)
c.5992C>T (p.Gln1998Ter)
c.5350C>T (p.Gln1784Ter)
c.2860C>T (p.Gln954Ter)
n.6775C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71793266A=CA1918874196CDH23c.6338A= (p.Gln2113=)
c.6353A= (p.Gln2118=)
c.6533A= (p.Gln2178=)
c.6467A= (p.Gln2156=)
c.6530A= (p.Gln2177=)
c.6527A= (p.Gln2176=)
c.6473A= (p.Gln2158=)
c.6398A= (p.Gln2133=)
c.5993A= (p.Gln1998=)
c.5351A= (p.Gln1784=)
c.2861A= (p.Gln954=)
n.6776A=
10g.71793266A>CCA377154411CDH23c.6338A>C (p.Gln2113Pro)
c.6353A>C (p.Gln2118Pro)
c.6533A>C (p.Gln2178Pro)
c.6467A>C (p.Gln2156Pro)
c.6530A>C (p.Gln2177Pro)
c.6527A>C (p.Gln2176Pro)
c.6473A>C (p.Gln2158Pro)
c.6398A>C (p.Gln2133Pro)
c.5993A>C (p.Gln1998Pro)
c.5351A>C (p.Gln1784Pro)
c.2861A>C (p.Gln954Pro)
n.6776A>C
10g.71793266A>GCA377154412CDH23c.6338A>G (p.Gln2113Arg)
c.6353A>G (p.Gln2118Arg)
c.6533A>G (p.Gln2178Arg)
c.6467A>G (p.Gln2156Arg)
c.6530A>G (p.Gln2177Arg)
c.6527A>G (p.Gln2176Arg)
c.6473A>G (p.Gln2158Arg)
c.6398A>G (p.Gln2133Arg)
c.5993A>G (p.Gln1998Arg)
c.5351A>G (p.Gln1784Arg)
c.2861A>G (p.Gln954Arg)
n.6776A>G
 dbSNP gnomAD v4
10g.71793266A>TCA209466001CDH23c.6338A>T (p.Gln2113Leu)
c.6353A>T (p.Gln2118Leu)
c.6533A>T (p.Gln2178Leu)
c.6467A>T (p.Gln2156Leu)
c.6530A>T (p.Gln2177Leu)
c.6527A>T (p.Gln2176Leu)
c.6473A>T (p.Gln2158Leu)
c.6398A>T (p.Gln2133Leu)
c.5993A>T (p.Gln1998Leu)
c.5351A>T (p.Gln1784Leu)
c.2861A>T (p.Gln954Leu)
n.6776A>T
 dbSNP
10g.71793267G>ACA2580081859CDH23c.6339G>A (p.Gln2113=)
c.6354G>A (p.Gln2118=)
c.6534G>A (p.Gln2178=)
c.6468G>A (p.Gln2156=)
c.6531G>A (p.Gln2177=)
c.6528G>A (p.Gln2176=)
c.6474G>A (p.Gln2158=)
c.6399G>A (p.Gln2133=)
c.5994G>A (p.Gln1998=)
c.5352G>A (p.Gln1784=)
c.2862G>A (p.Gln954=)
n.6777G>A
 ClinVar
10g.71793267G>CCA377154421CDH23c.6339G>C (p.Gln2113His)
c.6354G>C (p.Gln2118His)
c.6534G>C (p.Gln2178His)
c.6468G>C (p.Gln2156His)
c.6531G>C (p.Gln2177His)
c.6528G>C (p.Gln2176His)
c.6474G>C (p.Gln2158His)
c.6399G>C (p.Gln2133His)
c.5994G>C (p.Gln1998His)
c.5352G>C (p.Gln1784His)
c.2862G>C (p.Gln954His)
n.6777G>C
10g.71793267G>TCA377154424CDH23c.6339G>T (p.Gln2113His)
c.6354G>T (p.Gln2118His)
c.6534G>T (p.Gln2178His)
c.6468G>T (p.Gln2156His)
c.6531G>T (p.Gln2177His)
c.6528G>T (p.Gln2176His)
c.6474G>T (p.Gln2158His)
c.6399G>T (p.Gln2133His)
c.5994G>T (p.Gln1998His)
c.5352G>T (p.Gln1784His)
c.2862G>T (p.Gln954His)
n.6777G>T
10g.71793268G>ACA209466006CDH23c.6340G>A (p.Asp2114Asn)
c.6355G>A (p.Asp2119Asn)
c.6535G>A (p.Asp2179Asn)
c.6469G>A (p.Asp2157Asn)
c.6532G>A (p.Asp2178Asn)
c.6529G>A (p.Asp2177Asn)
c.6475G>A (p.Asp2159Asn)
c.6400G>A (p.Asp2134Asn)
c.5995G>A (p.Asp1999Asn)
c.5353G>A (p.Asp1785Asn)
c.2863G>A (p.Asp955Asn)
n.6778G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71793268G>CCA377154427CDH23c.6340G>C (p.Asp2114His)
c.6355G>C (p.Asp2119His)
c.6535G>C (p.Asp2179His)
c.6469G>C (p.Asp2157His)
c.6532G>C (p.Asp2178His)
c.6529G>C (p.Asp2177His)
c.6475G>C (p.Asp2159His)
c.6400G>C (p.Asp2134His)
c.5995G>C (p.Asp1999His)
c.5353G>C (p.Asp1785His)
c.2863G>C (p.Asp955His)
n.6778G>C
10g.71793268G=CA1918874197CDH23c.6340G= (p.Asp2114=)
c.6355G= (p.Asp2119=)
c.6535G= (p.Asp2179=)
c.6469G= (p.Asp2157=)
c.6532G= (p.Asp2178=)
c.6529G= (p.Asp2177=)
c.6475G= (p.Asp2159=)
c.6400G= (p.Asp2134=)
c.5995G= (p.Asp1999=)
c.5353G= (p.Asp1785=)
c.2863G= (p.Asp955=)
n.6778G=
10g.71793268G>TCA377154428CDH23c.6340G>T (p.Asp2114Tyr)
c.6355G>T (p.Asp2119Tyr)
c.6535G>T (p.Asp2179Tyr)
c.6469G>T (p.Asp2157Tyr)
c.6532G>T (p.Asp2178Tyr)
c.6529G>T (p.Asp2177Tyr)
c.6475G>T (p.Asp2159Tyr)
c.6400G>T (p.Asp2134Tyr)
c.5995G>T (p.Asp1999Tyr)
c.5353G>T (p.Asp1785Tyr)
c.2863G>T (p.Asp955Tyr)
n.6778G>T
10g.71793269A>CCA377154431CDH23c.6341A>C (p.Asp2114Ala)
c.6356A>C (p.Asp2119Ala)
c.6536A>C (p.Asp2179Ala)
c.6470A>C (p.Asp2157Ala)
c.6533A>C (p.Asp2178Ala)
c.6530A>C (p.Asp2177Ala)
c.6476A>C (p.Asp2159Ala)
c.6401A>C (p.Asp2134Ala)
c.5996A>C (p.Asp1999Ala)
c.5354A>C (p.Asp1785Ala)
c.2864A>C (p.Asp955Ala)
n.6779A>C
10g.71793269A>GCA377154433CDH23c.6341A>G (p.Asp2114Gly)
c.6356A>G (p.Asp2119Gly)
c.6536A>G (p.Asp2179Gly)
c.6470A>G (p.Asp2157Gly)
c.6533A>G (p.Asp2178Gly)
c.6530A>G (p.Asp2177Gly)
c.6476A>G (p.Asp2159Gly)
c.6401A>G (p.Asp2134Gly)
c.5996A>G (p.Asp1999Gly)
c.5354A>G (p.Asp1785Gly)
c.2864A>G (p.Asp955Gly)
n.6779A>G
10g.71793269A>TCA377154430CDH23c.6341A>T (p.Asp2114Val)
c.6356A>T (p.Asp2119Val)
c.6536A>T (p.Asp2179Val)
c.6470A>T (p.Asp2157Val)
c.6533A>T (p.Asp2178Val)
c.6530A>T (p.Asp2177Val)
c.6476A>T (p.Asp2159Val)
c.6401A>T (p.Asp2134Val)
c.5996A>T (p.Asp1999Val)
c.5354A>T (p.Asp1785Val)
c.2864A>T (p.Asp955Val)
n.6779A>T
10g.71793270C>ACA377154435CDH23c.6342C>A (p.Asp2114Glu)
c.6357C>A (p.Asp2119Glu)
c.6537C>A (p.Asp2179Glu)
c.6471C>A (p.Asp2157Glu)
c.6534C>A (p.Asp2178Glu)
c.6531C>A (p.Asp2177Glu)
c.6477C>A (p.Asp2159Glu)
c.6402C>A (p.Asp2134Glu)
c.5997C>A (p.Asp1999Glu)
c.5355C>A (p.Asp1785Glu)
c.2865C>A (p.Asp955Glu)
n.6780C>A
 dbSNP
10g.71793270C>GCA377154437CDH23c.6342C>G (p.Asp2114Glu)
c.6357C>G (p.Asp2119Glu)
c.6537C>G (p.Asp2179Glu)
c.6471C>G (p.Asp2157Glu)
c.6534C>G (p.Asp2178Glu)
c.6531C>G (p.Asp2177Glu)
c.6477C>G (p.Asp2159Glu)
c.6402C>G (p.Asp2134Glu)
c.5997C>G (p.Asp1999Glu)
c.5355C>G (p.Asp1785Glu)
c.2865C>G (p.Asp955Glu)
n.6780C>G
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
 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

Number of alleles fetched