Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71807515G>ACA377131281CDH23c.8309-1G>A (n.8309-1G>A)
c.2242-1G>A (n.2242-1G>A)
c.1906-1G>A (n.1906-1G>A)
c.8324-1G>A (n.8324-1G>A)
c.1589-1G>A (n.1589-1G>A)
n.1845-1G>A
c.8504-1G>A (n.8504-1G>A)
c.8438-1G>A (n.8438-1G>A)
c.8501-1G>A (n.8501-1G>A)
c.8498-1G>A (n.8498-1G>A)
c.8444-1G>A (n.8444-1G>A)
c.8414-1G>A (n.8414-1G>A)
c.8369-1G>A (n.8369-1G>A)
c.7964-1G>A (n.7964-1G>A)
c.7322-1G>A (n.7322-1G>A)
c.4832-1G>A (n.4832-1G>A)
 ClinVar dbSNP gnomAD v4
10g.71807515G>CCA377131280CDH23c.8309-1G>C (n.8309-1G>C)
c.2242-1G>C (n.2242-1G>C)
c.1906-1G>C (n.1906-1G>C)
c.8324-1G>C (n.8324-1G>C)
c.1589-1G>C (n.1589-1G>C)
n.1845-1G>C
c.8504-1G>C (n.8504-1G>C)
c.8438-1G>C (n.8438-1G>C)
c.8501-1G>C (n.8501-1G>C)
c.8498-1G>C (n.8498-1G>C)
c.8444-1G>C (n.8444-1G>C)
c.8414-1G>C (n.8414-1G>C)
c.8369-1G>C (n.8369-1G>C)
c.7964-1G>C (n.7964-1G>C)
c.7322-1G>C (n.7322-1G>C)
c.4832-1G>C (n.4832-1G>C)
 dbSNP
10g.71807515G>TCA377131279CDH23c.8309-1G>T (n.8309-1G>T)
c.2242-1G>T (n.2242-1G>T)
c.1906-1G>T (n.1906-1G>T)
c.8324-1G>T (n.8324-1G>T)
c.1589-1G>T (n.1589-1G>T)
n.1845-1G>T
c.8504-1G>T (n.8504-1G>T)
c.8438-1G>T (n.8438-1G>T)
c.8501-1G>T (n.8501-1G>T)
c.8498-1G>T (n.8498-1G>T)
c.8444-1G>T (n.8444-1G>T)
c.8414-1G>T (n.8414-1G>T)
c.8369-1G>T (n.8369-1G>T)
c.7964-1G>T (n.7964-1G>T)
c.7322-1G>T (n.7322-1G>T)
c.4832-1G>T (n.4832-1G>T)
10g.71807516C>ACA377131282CDH23c.8309C>A (p.Ala2770Asp)
c.2242C>A (n.2242C>A)
c.1906C>A (n.1906C>A)
c.8324C>A (p.Ala2775Asp)
c.1589C>A (p.Ala530Asp)
n.1845C>A
c.8504C>A (p.Ala2835Asp)
c.8438C>A (p.Ala2813Asp)
c.8501C>A (p.Ala2834Asp)
c.8498C>A (p.Ala2833Asp)
c.8444C>A (p.Ala2815Asp)
c.8414C>A (p.Ala2805Asp)
c.8369C>A (p.Ala2790Asp)
c.7964C>A (p.Ala2655Asp)
c.7322C>A (p.Ala2441Asp)
c.4832C>A (p.Ala1611Asp)
10g.71807516C>GCA377131283CDH23c.8309C>G (p.Ala2770Gly)
c.2242C>G (n.2242C>G)
c.1906C>G (n.1906C>G)
c.8324C>G (p.Ala2775Gly)
c.1589C>G (p.Ala530Gly)
n.1845C>G
c.8504C>G (p.Ala2835Gly)
c.8438C>G (p.Ala2813Gly)
c.8501C>G (p.Ala2834Gly)
c.8498C>G (p.Ala2833Gly)
c.8444C>G (p.Ala2815Gly)
c.8414C>G (p.Ala2805Gly)
c.8369C>G (p.Ala2790Gly)
c.7964C>G (p.Ala2655Gly)
c.7322C>G (p.Ala2441Gly)
c.4832C>G (p.Ala1611Gly)
10g.71807516C>TCA377131284CDH23c.8309C>T (p.Ala2770Val)
c.2242C>T (n.2242C>T)
c.1906C>T (n.1906C>T)
c.8324C>T (p.Ala2775Val)
c.1589C>T (p.Ala530Val)
n.1845C>T
c.8504C>T (p.Ala2835Val)
c.8438C>T (p.Ala2813Val)
c.8501C>T (p.Ala2834Val)
c.8498C>T (p.Ala2833Val)
c.8444C>T (p.Ala2815Val)
c.8414C>T (p.Ala2805Val)
c.8369C>T (p.Ala2790Val)
c.7964C>T (p.Ala2655Val)
c.7322C>T (p.Ala2441Val)
c.4832C>T (p.Ala1611Val)
 dbSNP
10g.71807516_71807523delCA2573145284CDH23c.8309_8316del (p.Ala2770GlyfsTer?)
c.2242_2249del (n.2242_2249del)
c.1906_1913del (n.1906_1913del)
c.8324_8331del (p.Ala2775GlyfsTer?)
c.1589_1596del (p.Ala530GlyfsTer?)
n.1845_1852del
c.8504_8511del (p.Ala2835GlyfsTer?)
c.8438_8445del (p.Ala2813GlyfsTer?)
c.8501_8508del (p.Ala2834GlyfsTer?)
c.8498_8505del (p.Ala2833GlyfsTer?)
c.8444_8451del (p.Ala2815GlyfsTer?)
c.8414_8421del (p.Ala2805GlyfsTer?)
c.8369_8376del (p.Ala2790GlyfsTer?)
c.7964_7971del (p.Ala2655GlyfsTer?)
c.7322_7329del (p.Ala2441GlyfsTer?)
c.4832_4839del (p.Ala1611GlyfsTer?)
 ClinVar dbSNP
10g.71807517C>ACA470282381CDH23c.8310C>A (p.Ala2770=)
c.2243C>A (n.2243C>A)
c.1907C>A (n.1907C>A)
c.8325C>A (p.Ala2775=)
c.1590C>A (p.Ala530=)
n.1846C>A
c.8505C>A (p.Ala2835=)
c.8439C>A (p.Ala2813=)
c.8502C>A (p.Ala2834=)
c.8499C>A (p.Ala2833=)
c.8445C>A (p.Ala2815=)
c.8415C>A (p.Ala2805=)
c.8370C>A (p.Ala2790=)
c.7965C>A (p.Ala2655=)
c.7323C>A (p.Ala2441=)
c.4833C>A (p.Ala1611=)
10g.71807517C=CA1918886451CDH23c.8310C= (p.Ala2770=)
c.2243C= (n.2243C=)
c.1907C= (n.1907C=)
c.8325C= (p.Ala2775=)
c.1590C= (p.Ala530=)
n.1846C=
c.8505C= (p.Ala2835=)
c.8439C= (p.Ala2813=)
c.8502C= (p.Ala2834=)
c.8499C= (p.Ala2833=)
c.8445C= (p.Ala2815=)
c.8415C= (p.Ala2805=)
c.8370C= (p.Ala2790=)
c.7965C= (p.Ala2655=)
c.7323C= (p.Ala2441=)
c.4833C= (p.Ala1611=)
10g.71807517C>GCA470282382CDH23c.8310C>G (p.Ala2770=)
c.2243C>G (n.2243C>G)
c.1907C>G (n.1907C>G)
c.8325C>G (p.Ala2775=)
c.1590C>G (p.Ala530=)
n.1846C>G
c.8505C>G (p.Ala2835=)
c.8439C>G (p.Ala2813=)
c.8502C>G (p.Ala2834=)
c.8499C>G (p.Ala2833=)
c.8445C>G (p.Ala2815=)
c.8415C>G (p.Ala2805=)
c.8370C>G (p.Ala2790=)
c.7965C>G (p.Ala2655=)
c.7323C>G (p.Ala2441=)
c.4833C>G (p.Ala1611=)
 dbSNP
10g.71807517C>TCA5546622CDH23c.8310C>T (p.Ala2770=)
c.2243C>T (n.2243C>T)
c.1907C>T (n.1907C>T)
c.8325C>T (p.Ala2775=)
c.1590C>T (p.Ala530=)
n.1846C>T
c.8505C>T (p.Ala2835=)
c.8439C>T (p.Ala2813=)
c.8502C>T (p.Ala2834=)
c.8499C>T (p.Ala2833=)
c.8445C>T (p.Ala2815=)
c.8415C>T (p.Ala2805=)
c.8370C>T (p.Ala2790=)
c.7965C>T (p.Ala2655=)
c.7323C>T (p.Ala2441=)
c.4833C>T (p.Ala1611=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807518G>ACA180727CDH23c.8311G>A (p.Gly2771Ser)
c.2244G>A (n.2244G>A)
c.1908G>A (n.1908G>A)
c.8326G>A (p.Gly2776Ser)
c.1591G>A (p.Gly531Ser)
n.1847G>A
c.8506G>A (p.Gly2836Ser)
c.8440G>A (p.Gly2814Ser)
c.8503G>A (p.Gly2835Ser)
c.8500G>A (p.Gly2834Ser)
c.8446G>A (p.Gly2816Ser)
c.8416G>A (p.Gly2806Ser)
c.8371G>A (p.Gly2791Ser)
c.7966G>A (p.Gly2656Ser)
c.7324G>A (p.Gly2442Ser)
c.4834G>A (p.Gly1612Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807518G>CCA377131285CDH23c.8311G>C (p.Gly2771Arg)
c.2244G>C (n.2244G>C)
c.1908G>C (n.1908G>C)
c.8326G>C (p.Gly2776Arg)
c.1591G>C (p.Gly531Arg)
n.1847G>C
c.8506G>C (p.Gly2836Arg)
c.8440G>C (p.Gly2814Arg)
c.8503G>C (p.Gly2835Arg)
c.8500G>C (p.Gly2834Arg)
c.8446G>C (p.Gly2816Arg)
c.8416G>C (p.Gly2806Arg)
c.8371G>C (p.Gly2791Arg)
c.7966G>C (p.Gly2656Arg)
c.7324G>C (p.Gly2442Arg)
c.4834G>C (p.Gly1612Arg)
 dbSNP gnomAD v4
10g.71807518G=CA1918886454CDH23c.8311G= (p.Gly2771=)
c.2244G= (n.2244G=)
c.1908G= (n.1908G=)
c.8326G= (p.Gly2776=)
c.1591G= (p.Gly531=)
n.1847G=
c.8506G= (p.Gly2836=)
c.8440G= (p.Gly2814=)
c.8503G= (p.Gly2835=)
c.8500G= (p.Gly2834=)
c.8446G= (p.Gly2816=)
c.8416G= (p.Gly2806=)
c.8371G= (p.Gly2791=)
c.7966G= (p.Gly2656=)
c.7324G= (p.Gly2442=)
c.4834G= (p.Gly1612=)
10g.71807518G>TCA377131286CDH23c.8311G>T (p.Gly2771Cys)
c.2244G>T (n.2244G>T)
c.1908G>T (n.1908G>T)
c.8326G>T (p.Gly2776Cys)
c.1591G>T (p.Gly531Cys)
n.1847G>T
c.8506G>T (p.Gly2836Cys)
c.8440G>T (p.Gly2814Cys)
c.8503G>T (p.Gly2835Cys)
c.8500G>T (p.Gly2834Cys)
c.8446G>T (p.Gly2816Cys)
c.8416G>T (p.Gly2806Cys)
c.8371G>T (p.Gly2791Cys)
c.7966G>T (p.Gly2656Cys)
c.7324G>T (p.Gly2442Cys)
c.4834G>T (p.Gly1612Cys)
10g.71807519G>ACA377131287CDH23c.8312G>A (p.Gly2771Asp)
c.2245G>A (n.2245G>A)
c.1909G>A (n.1909G>A)
c.8327G>A (p.Gly2776Asp)
c.1592G>A (p.Gly531Asp)
n.1848G>A
c.8507G>A (p.Gly2836Asp)
c.8441G>A (p.Gly2814Asp)
c.8504G>A (p.Gly2835Asp)
c.8501G>A (p.Gly2834Asp)
c.8447G>A (p.Gly2816Asp)
c.8417G>A (p.Gly2806Asp)
c.8372G>A (p.Gly2791Asp)
c.7967G>A (p.Gly2656Asp)
c.7325G>A (p.Gly2442Asp)
c.4835G>A (p.Gly1612Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.71807519G>CCA377131288CDH23c.8312G>C (p.Gly2771Ala)
c.2245G>C (n.2245G>C)
c.1909G>C (n.1909G>C)
c.8327G>C (p.Gly2776Ala)
c.1592G>C (p.Gly531Ala)
n.1848G>C
c.8507G>C (p.Gly2836Ala)
c.8441G>C (p.Gly2814Ala)
c.8504G>C (p.Gly2835Ala)
c.8501G>C (p.Gly2834Ala)
c.8447G>C (p.Gly2816Ala)
c.8417G>C (p.Gly2806Ala)
c.8372G>C (p.Gly2791Ala)
c.7967G>C (p.Gly2656Ala)
c.7325G>C (p.Gly2442Ala)
c.4835G>C (p.Gly1612Ala)
 dbSNP
10g.71807519G=CA1918886456CDH23c.8312G= (p.Gly2771=)
c.2245G= (n.2245G=)
c.1909G= (n.1909G=)
c.8327G= (p.Gly2776=)
c.1592G= (p.Gly531=)
n.1848G=
c.8507G= (p.Gly2836=)
c.8441G= (p.Gly2814=)
c.8504G= (p.Gly2835=)
c.8501G= (p.Gly2834=)
c.8447G= (p.Gly2816=)
c.8417G= (p.Gly2806=)
c.8372G= (p.Gly2791=)
c.7967G= (p.Gly2656=)
c.7325G= (p.Gly2442=)
c.4835G= (p.Gly1612=)
10g.71807519G>TCA377131289CDH23c.8312G>T (p.Gly2771Val)
c.2245G>T (n.2245G>T)
c.1909G>T (n.1909G>T)
c.8327G>T (p.Gly2776Val)
c.1592G>T (p.Gly531Val)
n.1848G>T
c.8507G>T (p.Gly2836Val)
c.8441G>T (p.Gly2814Val)
c.8504G>T (p.Gly2835Val)
c.8501G>T (p.Gly2834Val)
c.8447G>T (p.Gly2816Val)
c.8417G>T (p.Gly2806Val)
c.8372G>T (p.Gly2791Val)
c.7967G>T (p.Gly2656Val)
c.7325G>T (p.Gly2442Val)
c.4835G>T (p.Gly1612Val)
10g.71807520C>ACA470282384CDH23c.8313C>A (p.Gly2771=)
c.2246C>A (n.2246C>A)
c.1910C>A (n.1910C>A)
c.8328C>A (p.Gly2776=)
c.1593C>A (p.Gly531=)
n.1849C>A
c.8508C>A (p.Gly2836=)
c.8442C>A (p.Gly2814=)
c.8505C>A (p.Gly2835=)
c.8502C>A (p.Gly2834=)
c.8448C>A (p.Gly2816=)
c.8418C>A (p.Gly2806=)
c.8373C>A (p.Gly2791=)
c.7968C>A (p.Gly2656=)
c.7326C>A (p.Gly2442=)
c.4836C>A (p.Gly1612=)
10g.71807520C>GCA470282385CDH23c.8313C>G (p.Gly2771=)
c.2246C>G (n.2246C>G)
c.1910C>G (n.1910C>G)
c.8328C>G (p.Gly2776=)
c.1593C>G (p.Gly531=)
n.1849C>G
c.8508C>G (p.Gly2836=)
c.8442C>G (p.Gly2814=)
c.8505C>G (p.Gly2835=)
c.8502C>G (p.Gly2834=)
c.8448C>G (p.Gly2816=)
c.8418C>G (p.Gly2806=)
c.8373C>G (p.Gly2791=)
c.7968C>G (p.Gly2656=)
c.7326C>G (p.Gly2442=)
c.4836C>G (p.Gly1612=)
10g.71807520C>TCA470282386CDH23c.8313C>T (p.Gly2771=)
c.2246C>T (n.2246C>T)
c.1910C>T (n.1910C>T)
c.8328C>T (p.Gly2776=)
c.1593C>T (p.Gly531=)
n.1849C>T
c.8508C>T (p.Gly2836=)
c.8442C>T (p.Gly2814=)
c.8505C>T (p.Gly2835=)
c.8502C>T (p.Gly2834=)
c.8448C>T (p.Gly2816=)
c.8418C>T (p.Gly2806=)
c.8373C>T (p.Gly2791=)
c.7968C>T (p.Gly2656=)
c.7326C>T (p.Gly2442=)
c.4836C>T (p.Gly1612=)
 dbSNP
10g.71807520_71807521delinsCACA1918886459CDH23c.8313_8314delinsCA (p.Gly2771=)
c.2246_2247delinsCA (n.2246_2247delinsCA)
c.1910_1911delinsCA (n.1910_1911delinsCA)
c.8328_8329delinsCA (p.Gly2776=)
c.1593_1594delinsCA (p.Gly531=)
n.1849_1850delinsCA
c.8508_8509delinsCA (p.Gly2836=)
c.8442_8443delinsCA (p.Gly2814=)
c.8505_8506delinsCA (p.Gly2835=)
c.8502_8503delinsCA (p.Gly2834=)
c.8448_8449delinsCA (p.Gly2816=)
c.8418_8419delinsCA (p.Gly2806=)
c.8373_8374delinsCA (p.Gly2791=)
c.7968_7969delinsCA (p.Gly2656=)
c.7326_7327delinsCA (p.Gly2442=)
c.4836_4837delinsCA (p.Gly1612=)
10g.71807520_71807524delinsCAACGCA1918886458CDH23c.8313_8317delinsCAACG (p.Gly2771=)
c.2246_2250delinsCAACG (n.2246_2250delinsCAACG)
c.1910_1914delinsCAACG (n.1910_1914delinsCAACG)
c.8328_8332delinsCAACG (p.Gly2776=)
c.1593_1597delinsCAACG (p.Gly531=)
n.1849_1853delinsCAACG
c.8508_8512delinsCAACG (p.Gly2836=)
c.8442_8446delinsCAACG (p.Gly2814=)
c.8505_8509delinsCAACG (p.Gly2835=)
c.8502_8506delinsCAACG (p.Gly2834=)
c.8448_8452delinsCAACG (p.Gly2816=)
c.8418_8422delinsCAACG (p.Gly2806=)
c.8373_8377delinsCAACG (p.Gly2791=)
c.7968_7972delinsCAACG (p.Gly2656=)
c.7326_7330delinsCAACG (p.Gly2442=)
c.4836_4840delinsCAACG (p.Gly1612=)
10g.71807521A>CCA377131290CDH23c.8314A>C (p.Asn2772His)
c.2247A>C (n.2247A>C)
c.1911A>C (n.1911A>C)
c.8329A>C (p.Asn2777His)
c.1594A>C (p.Asn532His)
n.1850A>C
c.8509A>C (p.Asn2837His)
c.8443A>C (p.Asn2815His)
c.8506A>C (p.Asn2836His)
c.8503A>C (p.Asn2835His)
c.8449A>C (p.Asn2817His)
c.8419A>C (p.Asn2807His)
c.8374A>C (p.Asn2792His)
c.7969A>C (p.Asn2657His)
c.7327A>C (p.Asn2443His)
c.4837A>C (p.Asn1613His)
10g.71807521A>GCA377131291CDH23c.8314A>G (p.Asn2772Asp)
c.2247A>G (n.2247A>G)
c.1911A>G (n.1911A>G)
c.8329A>G (p.Asn2777Asp)
c.1594A>G (p.Asn532Asp)
n.1850A>G
c.8509A>G (p.Asn2837Asp)
c.8443A>G (p.Asn2815Asp)
c.8506A>G (p.Asn2836Asp)
c.8503A>G (p.Asn2835Asp)
c.8449A>G (p.Asn2817Asp)
c.8419A>G (p.Asn2807Asp)
c.8374A>G (p.Asn2792Asp)
c.7969A>G (p.Asn2657Asp)
c.7327A>G (p.Asn2443Asp)
c.4837A>G (p.Asn1613Asp)
10g.71807521A>TCA377131292CDH23c.8314A>T (p.Asn2772Tyr)
c.2247A>T (n.2247A>T)
c.1911A>T (n.1911A>T)
c.8329A>T (p.Asn2777Tyr)
c.1594A>T (p.Asn532Tyr)
n.1850A>T
c.8509A>T (p.Asn2837Tyr)
c.8443A>T (p.Asn2815Tyr)
c.8506A>T (p.Asn2836Tyr)
c.8503A>T (p.Asn2835Tyr)
c.8449A>T (p.Asn2817Tyr)
c.8419A>T (p.Asn2807Tyr)
c.8374A>T (p.Asn2792Tyr)
c.7969A>T (p.Asn2657Tyr)
c.7327A>T (p.Asn2443Tyr)
c.4837A>T (p.Asn1613Tyr)
10g.71807522delCA594706194CDH23c.8315del (p.Asn2772ThrfsTer?)
c.2248del (n.2248del)
c.1912del (n.1912del)
c.8330del (p.Asn2777ThrfsTer?)
c.1595del (p.Asn532ThrfsTer?)
n.1851del
c.8510del (p.Asn2837ThrfsTer?)
c.8444del (p.Asn2815ThrfsTer?)
c.8507del (p.Asn2836ThrfsTer?)
c.8504del (p.Asn2835ThrfsTer?)
c.8450del (p.Asn2817ThrfsTer?)
c.8420del (p.Asn2807ThrfsTer?)
c.8375del (p.Asn2792ThrfsTer?)
c.7970del (p.Asn2657ThrfsTer?)
c.7328del (p.Asn2443ThrfsTer?)
c.4838del (p.Asn1613ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71807523_71807526delCA668120144CDH23c.8316_8319del (p.Asn2772LysfsTer?)
c.2249_2252del (n.2249_2252del)
c.1913_1916del (n.1913_1916del)
c.8331_8334del (p.Asn2777LysfsTer?)
c.1596_1599del (p.Asn532LysfsTer?)
n.1852_1855del
c.8511_8514del (p.Asn2837LysfsTer?)
c.8445_8448del (p.Asn2815LysfsTer?)
c.8508_8511del (p.Asn2836LysfsTer?)
c.8505_8508del (p.Asn2835LysfsTer?)
c.8451_8454del (p.Asn2817LysfsTer?)
c.8421_8424del (p.Asn2807LysfsTer?)
c.8376_8379del (p.Asn2792LysfsTer?)
c.7971_7974del (p.Asn2657LysfsTer?)
c.7329_7332del (p.Asn2443LysfsTer?)
c.4839_4842del (p.Asn1613LysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
10g.71807522A>CCA377131294CDH23c.8315A>C (p.Asn2772Thr)
c.2248A>C (n.2248A>C)
c.1912A>C (n.1912A>C)
c.8330A>C (p.Asn2777Thr)
c.1595A>C (p.Asn532Thr)
n.1851A>C
c.8510A>C (p.Asn2837Thr)
c.8444A>C (p.Asn2815Thr)
c.8507A>C (p.Asn2836Thr)
c.8504A>C (p.Asn2835Thr)
c.8450A>C (p.Asn2817Thr)
c.8420A>C (p.Asn2807Thr)
c.8375A>C (p.Asn2792Thr)
c.7970A>C (p.Asn2657Thr)
c.7328A>C (p.Asn2443Thr)
c.4838A>C (p.Asn1613Thr)
 dbSNP
10g.71807522A>GCA377131295CDH23c.8315A>G (p.Asn2772Ser)
c.2248A>G (n.2248A>G)
c.1912A>G (n.1912A>G)
c.8330A>G (p.Asn2777Ser)
c.1595A>G (p.Asn532Ser)
n.1851A>G
c.8510A>G (p.Asn2837Ser)
c.8444A>G (p.Asn2815Ser)
c.8507A>G (p.Asn2836Ser)
c.8504A>G (p.Asn2835Ser)
c.8450A>G (p.Asn2817Ser)
c.8420A>G (p.Asn2807Ser)
c.8375A>G (p.Asn2792Ser)
c.7970A>G (p.Asn2657Ser)
c.7328A>G (p.Asn2443Ser)
c.4838A>G (p.Asn1613Ser)
10g.71807522A>TCA377131293CDH23c.8315A>T (p.Asn2772Ile)
c.2248A>T (n.2248A>T)
c.1912A>T (n.1912A>T)
c.8330A>T (p.Asn2777Ile)
c.1595A>T (p.Asn532Ile)
n.1851A>T
c.8510A>T (p.Asn2837Ile)
c.8444A>T (p.Asn2815Ile)
c.8507A>T (p.Asn2836Ile)
c.8504A>T (p.Asn2835Ile)
c.8450A>T (p.Asn2817Ile)
c.8420A>T (p.Asn2807Ile)
c.8375A>T (p.Asn2792Ile)
c.7970A>T (p.Asn2657Ile)
c.7328A>T (p.Asn2443Ile)
c.4838A>T (p.Asn1613Ile)
 dbSNP
10g.71807523C>ACA377131296CDH23c.8316C>A (p.Asn2772Lys)
c.2249C>A (n.2249C>A)
c.1913C>A (n.1913C>A)
c.8331C>A (p.Asn2777Lys)
c.1596C>A (p.Asn532Lys)
n.1852C>A
c.8511C>A (p.Asn2837Lys)
c.8445C>A (p.Asn2815Lys)
c.8508C>A (p.Asn2836Lys)
c.8505C>A (p.Asn2835Lys)
c.8451C>A (p.Asn2817Lys)
c.8421C>A (p.Asn2807Lys)
c.8376C>A (p.Asn2792Lys)
c.7971C>A (p.Asn2657Lys)
c.7329C>A (p.Asn2443Lys)
c.4839C>A (p.Asn1613Lys)
10g.71807523C=CA1918886462CDH23c.8316C= (p.Asn2772=)
c.2249C= (n.2249C=)
c.1913C= (n.1913C=)
c.8331C= (p.Asn2777=)
c.1596C= (p.Asn532=)
n.1852C=
c.8511C= (p.Asn2837=)
c.8445C= (p.Asn2815=)
c.8508C= (p.Asn2836=)
c.8505C= (p.Asn2835=)
c.8451C= (p.Asn2817=)
c.8421C= (p.Asn2807=)
c.8376C= (p.Asn2792=)
c.7971C= (p.Asn2657=)
c.7329C= (p.Asn2443=)
c.4839C= (p.Asn1613=)
10g.71807523C>GCA377131297CDH23c.8316C>G (p.Asn2772Lys)
c.2249C>G (n.2249C>G)
c.1913C>G (n.1913C>G)
c.8331C>G (p.Asn2777Lys)
c.1596C>G (p.Asn532Lys)
n.1852C>G
c.8511C>G (p.Asn2837Lys)
c.8445C>G (p.Asn2815Lys)
c.8508C>G (p.Asn2836Lys)
c.8505C>G (p.Asn2835Lys)
c.8451C>G (p.Asn2817Lys)
c.8421C>G (p.Asn2807Lys)
c.8376C>G (p.Asn2792Lys)
c.7971C>G (p.Asn2657Lys)
c.7329C>G (p.Asn2443Lys)
c.4839C>G (p.Asn1613Lys)
10g.71807523C>TCA5546623CDH23c.8316C>T (p.Asn2772=)
c.2249C>T (n.2249C>T)
c.1913C>T (n.1913C>T)
c.8331C>T (p.Asn2777=)
c.1596C>T (p.Asn532=)
n.1852C>T
c.8511C>T (p.Asn2837=)
c.8445C>T (p.Asn2815=)
c.8508C>T (p.Asn2836=)
c.8505C>T (p.Asn2835=)
c.8451C>T (p.Asn2817=)
c.8421C>T (p.Asn2807=)
c.8376C>T (p.Asn2792=)
c.7971C>T (p.Asn2657=)
c.7329C>T (p.Asn2443=)
c.4839C>T (p.Asn1613=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807524G>ACA5546624CDH23c.8317G>A (p.Glu2773Lys)
c.2250G>A (n.2250G>A)
c.1914G>A (n.1914G>A)
c.8332G>A (p.Glu2778Lys)
c.1597G>A (p.Glu533Lys)
n.1853G>A
c.8512G>A (p.Glu2838Lys)
c.8446G>A (p.Glu2816Lys)
c.8509G>A (p.Glu2837Lys)
c.8506G>A (p.Glu2836Lys)
c.8452G>A (p.Glu2818Lys)
c.8422G>A (p.Glu2808Lys)
c.8377G>A (p.Glu2793Lys)
c.7972G>A (p.Glu2658Lys)
c.7330G>A (p.Glu2444Lys)
c.4840G>A (p.Glu1614Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807524G>CCA377131298CDH23c.8317G>C (p.Glu2773Gln)
c.2250G>C (n.2250G>C)
c.1914G>C (n.1914G>C)
c.8332G>C (p.Glu2778Gln)
c.1597G>C (p.Glu533Gln)
n.1853G>C
c.8512G>C (p.Glu2838Gln)
c.8446G>C (p.Glu2816Gln)
c.8509G>C (p.Glu2837Gln)
c.8506G>C (p.Glu2836Gln)
c.8452G>C (p.Glu2818Gln)
c.8422G>C (p.Glu2808Gln)
c.8377G>C (p.Glu2793Gln)
c.7972G>C (p.Glu2658Gln)
c.7330G>C (p.Glu2444Gln)
c.4840G>C (p.Glu1614Gln)
10g.71807524G=CA1918886466CDH23c.8317G= (p.Glu2773=)
c.2250G= (n.2250G=)
c.1914G= (n.1914G=)
c.8332G= (p.Glu2778=)
c.1597G= (p.Glu533=)
n.1853G=
c.8512G= (p.Glu2838=)
c.8446G= (p.Glu2816=)
c.8509G= (p.Glu2837=)
c.8506G= (p.Glu2836=)
c.8452G= (p.Glu2818=)
c.8422G= (p.Glu2808=)
c.8377G= (p.Glu2793=)
c.7972G= (p.Glu2658=)
c.7330G= (p.Glu2444=)
c.4840G= (p.Glu1614=)
10g.71807524G>TCA377131299CDH23c.8317G>T (p.Glu2773Ter)
c.2250G>T (n.2250G>T)
c.1914G>T (n.1914G>T)
c.8332G>T (p.Glu2778Ter)
c.1597G>T (p.Glu533Ter)
n.1853G>T
c.8512G>T (p.Glu2838Ter)
c.8446G>T (p.Glu2816Ter)
c.8509G>T (p.Glu2837Ter)
c.8506G>T (p.Glu2836Ter)
c.8452G>T (p.Glu2818Ter)
c.8422G>T (p.Glu2808Ter)
c.8377G>T (p.Glu2793Ter)
c.7972G>T (p.Glu2658Ter)
c.7330G>T (p.Glu2444Ter)
c.4840G>T (p.Glu1614Ter)
10g.71807529_71807533delCA2609586065CDH23c.8322_8326del (p.Lys2775LeufsTer?)
c.2255_2259del (n.2255_2259del)
c.1919_1923del (n.1919_1923del)
c.8337_8341del (p.Lys2780LeufsTer?)
c.1602_1606del (p.Lys535LeufsTer?)
n.1858_1862del
c.8517_8521del (p.Lys2840LeufsTer?)
c.8451_8455del (p.Lys2818LeufsTer?)
c.8514_8518del (p.Lys2839LeufsTer?)
c.8511_8515del (p.Lys2838LeufsTer?)
c.8457_8461del (p.Lys2820LeufsTer?)
c.8427_8431del (p.Lys2810LeufsTer?)
c.8382_8386del (p.Lys2795LeufsTer?)
c.7977_7981del (p.Lys2660LeufsTer?)
c.7335_7339del (p.Lys2446LeufsTer?)
c.4845_4849del (p.Lys1616LeufsTer?)
 gnomAD v4
10g.71807525A>CCA377131302CDH23c.8318A>C (p.Glu2773Ala)
c.2251A>C (n.2251A>C)
c.1915A>C (n.1915A>C)
c.8333A>C (p.Glu2778Ala)
c.1598A>C (p.Glu533Ala)
n.1854A>C
c.8513A>C (p.Glu2838Ala)
c.8447A>C (p.Glu2816Ala)
c.8510A>C (p.Glu2837Ala)
c.8507A>C (p.Glu2836Ala)
c.8453A>C (p.Glu2818Ala)
c.8423A>C (p.Glu2808Ala)
c.8378A>C (p.Glu2793Ala)
c.7973A>C (p.Glu2658Ala)
c.7331A>C (p.Glu2444Ala)
c.4841A>C (p.Glu1614Ala)
10g.71807525A>GCA377131300CDH23c.8318A>G (p.Glu2773Gly)
c.2251A>G (n.2251A>G)
c.1915A>G (n.1915A>G)
c.8333A>G (p.Glu2778Gly)
c.1598A>G (p.Glu533Gly)
n.1854A>G
c.8513A>G (p.Glu2838Gly)
c.8447A>G (p.Glu2816Gly)
c.8510A>G (p.Glu2837Gly)
c.8507A>G (p.Glu2836Gly)
c.8453A>G (p.Glu2818Gly)
c.8423A>G (p.Glu2808Gly)
c.8378A>G (p.Glu2793Gly)
c.7973A>G (p.Glu2658Gly)
c.7331A>G (p.Glu2444Gly)
c.4841A>G (p.Glu1614Gly)
10g.71807525A>TCA377131301CDH23c.8318A>T (p.Glu2773Val)
c.2251A>T (n.2251A>T)
c.1915A>T (n.1915A>T)
c.8333A>T (p.Glu2778Val)
c.1598A>T (p.Glu533Val)
n.1854A>T
c.8513A>T (p.Glu2838Val)
c.8447A>T (p.Glu2816Val)
c.8510A>T (p.Glu2837Val)
c.8507A>T (p.Glu2836Val)
c.8453A>T (p.Glu2818Val)
c.8423A>T (p.Glu2808Val)
c.8378A>T (p.Glu2793Val)
c.7973A>T (p.Glu2658Val)
c.7331A>T (p.Glu2444Val)
c.4841A>T (p.Glu1614Val)
 dbSNP
10g.71807525_71807526delCA2695212117CDH23c.8318_8319del (p.Glu2773GlyfsTer?)
c.2251_2252del (n.2251_2252del)
c.1915_1916del (n.1915_1916del)
c.8333_8334del (p.Glu2778GlyfsTer?)
c.1598_1599del (p.Glu533GlyfsTer?)
n.1854_1855del
c.8513_8514del (p.Glu2838GlyfsTer?)
c.8447_8448del (p.Glu2816GlyfsTer?)
c.8510_8511del (p.Glu2837GlyfsTer?)
c.8507_8508del (p.Glu2836GlyfsTer?)
c.8453_8454del (p.Glu2818GlyfsTer?)
c.8423_8424del (p.Glu2808GlyfsTer?)
c.8378_8379del (p.Glu2793GlyfsTer?)
c.7973_7974del (p.Glu2658GlyfsTer?)
c.7331_7332del (p.Glu2444GlyfsTer?)
c.4841_4842del (p.Glu1614GlyfsTer?)
 ClinVar
10g.71807526delCA2609586071CDH23c.8319del (p.Glu2774ArgfsTer?)
c.2252del (n.2252del)
c.1916del (n.1916del)
c.8334del (p.Glu2779ArgfsTer?)
c.1599del (p.Glu534ArgfsTer?)
n.1855del
c.8514del (p.Glu2839ArgfsTer?)
c.8448del (p.Glu2817ArgfsTer?)
c.8511del (p.Glu2838ArgfsTer?)
c.8508del (p.Glu2837ArgfsTer?)
c.8454del (p.Glu2819ArgfsTer?)
c.8424del (p.Glu2809ArgfsTer?)
c.8379del (p.Glu2794ArgfsTer?)
c.7974del (p.Glu2659ArgfsTer?)
c.7332del (p.Glu2445ArgfsTer?)
c.4842del (p.Glu1615ArgfsTer?)
 gnomAD v4
10g.71807526A>CCA377131303CDH23c.8319A>C (p.Glu2773Asp)
c.2252A>C (n.2252A>C)
c.1916A>C (n.1916A>C)
c.8334A>C (p.Glu2778Asp)
c.1599A>C (p.Glu533Asp)
n.1855A>C
c.8514A>C (p.Glu2838Asp)
c.8448A>C (p.Glu2816Asp)
c.8511A>C (p.Glu2837Asp)
c.8508A>C (p.Glu2836Asp)
c.8454A>C (p.Glu2818Asp)
c.8424A>C (p.Glu2808Asp)
c.8379A>C (p.Glu2793Asp)
c.7974A>C (p.Glu2658Asp)
c.7332A>C (p.Glu2444Asp)
c.4842A>C (p.Glu1614Asp)
10g.71807526A>GCA470282387CDH23c.8319A>G (p.Glu2773=)
c.2252A>G (n.2252A>G)
c.1916A>G (n.1916A>G)
c.8334A>G (p.Glu2778=)
c.1599A>G (p.Glu533=)
n.1855A>G
c.8514A>G (p.Glu2838=)
c.8448A>G (p.Glu2816=)
c.8511A>G (p.Glu2837=)
c.8508A>G (p.Glu2836=)
c.8454A>G (p.Glu2818=)
c.8424A>G (p.Glu2808=)
c.8379A>G (p.Glu2793=)
c.7974A>G (p.Glu2658=)
c.7332A>G (p.Glu2444=)
c.4842A>G (p.Glu1614=)
10g.71807526A>TCA377131304CDH23c.8319A>T (p.Glu2773Asp)
c.2252A>T (n.2252A>T)
c.1916A>T (n.1916A>T)
c.8334A>T (p.Glu2778Asp)
c.1599A>T (p.Glu533Asp)
n.1855A>T
c.8514A>T (p.Glu2838Asp)
c.8448A>T (p.Glu2816Asp)
c.8511A>T (p.Glu2837Asp)
c.8508A>T (p.Glu2836Asp)
c.8454A>T (p.Glu2818Asp)
c.8424A>T (p.Glu2808Asp)
c.8379A>T (p.Glu2793Asp)
c.7974A>T (p.Glu2658Asp)
c.7332A>T (p.Glu2444Asp)
c.4842A>T (p.Glu1614Asp)
10g.71807527G>ACA377131305CDH23c.8320G>A (p.Glu2774Lys)
c.2253G>A (n.2253G>A)
c.1917G>A (n.1917G>A)
c.8335G>A (p.Glu2779Lys)
c.1600G>A (p.Glu534Lys)
n.1856G>A
c.8515G>A (p.Glu2839Lys)
c.8449G>A (p.Glu2817Lys)
c.8512G>A (p.Glu2838Lys)
c.8509G>A (p.Glu2837Lys)
c.8455G>A (p.Glu2819Lys)
c.8425G>A (p.Glu2809Lys)
c.8380G>A (p.Glu2794Lys)
c.7975G>A (p.Glu2659Lys)
c.7333G>A (p.Glu2445Lys)
c.4843G>A (p.Glu1615Lys)
 dbSNP
10g.71807527G>CCA377131306CDH23c.8320G>C (p.Glu2774Gln)
c.2253G>C (n.2253G>C)
c.1917G>C (n.1917G>C)
c.8335G>C (p.Glu2779Gln)
c.1600G>C (p.Glu534Gln)
n.1856G>C
c.8515G>C (p.Glu2839Gln)
c.8449G>C (p.Glu2817Gln)
c.8512G>C (p.Glu2838Gln)
c.8509G>C (p.Glu2837Gln)
c.8455G>C (p.Glu2819Gln)
c.8425G>C (p.Glu2809Gln)
c.8380G>C (p.Glu2794Gln)
c.7975G>C (p.Glu2659Gln)
c.7333G>C (p.Glu2445Gln)
c.4843G>C (p.Glu1615Gln)
 gnomAD v4
10g.71807527G>TCA377131307CDH23c.8320G>T (p.Glu2774Ter)
c.2253G>T (n.2253G>T)
c.1917G>T (n.1917G>T)
c.8335G>T (p.Glu2779Ter)
c.1600G>T (p.Glu534Ter)
n.1856G>T
c.8515G>T (p.Glu2839Ter)
c.8449G>T (p.Glu2817Ter)
c.8512G>T (p.Glu2838Ter)
c.8509G>T (p.Glu2837Ter)
c.8455G>T (p.Glu2819Ter)
c.8425G>T (p.Glu2809Ter)
c.8380G>T (p.Glu2794Ter)
c.7975G>T (p.Glu2659Ter)
c.7333G>T (p.Glu2445Ter)
c.4843G>T (p.Glu1615Ter)
10g.71807527_71807530delinsGAGACA1918886468CDH23c.8320_8323delinsGAGA (p.Glu2774=)
c.2253_2256delinsGAGA (n.2253_2256delinsGAGA)
c.1917_1920delinsGAGA (n.1917_1920delinsGAGA)
c.8335_8338delinsGAGA (p.Glu2779=)
c.1600_1603delinsGAGA (p.Glu534=)
n.1856_1859delinsGAGA
c.8515_8518delinsGAGA (p.Glu2839=)
c.8449_8452delinsGAGA (p.Glu2817=)
c.8512_8515delinsGAGA (p.Glu2838=)
c.8509_8512delinsGAGA (p.Glu2837=)
c.8455_8458delinsGAGA (p.Glu2819=)
c.8425_8428delinsGAGA (p.Glu2809=)
c.8380_8383delinsGAGA (p.Glu2794=)
c.7975_7978delinsGAGA (p.Glu2659=)
c.7333_7336delinsGAGA (p.Glu2445=)
c.4843_4846delinsGAGA (p.Glu1615=)
10g.71807528A>CCA377131310CDH23c.8321A>C (p.Glu2774Ala)
c.2254A>C (n.2254A>C)
c.1918A>C (n.1918A>C)
c.8336A>C (p.Glu2779Ala)
c.1601A>C (p.Glu534Ala)
n.1857A>C
c.8516A>C (p.Glu2839Ala)
c.8450A>C (p.Glu2817Ala)
c.8513A>C (p.Glu2838Ala)
c.8510A>C (p.Glu2837Ala)
c.8456A>C (p.Glu2819Ala)
c.8426A>C (p.Glu2809Ala)
c.8381A>C (p.Glu2794Ala)
c.7976A>C (p.Glu2659Ala)
c.7334A>C (p.Glu2445Ala)
c.4844A>C (p.Glu1615Ala)
10g.71807528A>GCA377131308CDH23c.8321A>G (p.Glu2774Gly)
c.2254A>G (n.2254A>G)
c.1918A>G (n.1918A>G)
c.8336A>G (p.Glu2779Gly)
c.1601A>G (p.Glu534Gly)
n.1857A>G
c.8516A>G (p.Glu2839Gly)
c.8450A>G (p.Glu2817Gly)
c.8513A>G (p.Glu2838Gly)
c.8510A>G (p.Glu2837Gly)
c.8456A>G (p.Glu2819Gly)
c.8426A>G (p.Glu2809Gly)
c.8381A>G (p.Glu2794Gly)
c.7976A>G (p.Glu2659Gly)
c.7334A>G (p.Glu2445Gly)
c.4844A>G (p.Glu1615Gly)
10g.71807528A>TCA377131309CDH23c.8321A>T (p.Glu2774Val)
c.2254A>T (n.2254A>T)
c.1918A>T (n.1918A>T)
c.8336A>T (p.Glu2779Val)
c.1601A>T (p.Glu534Val)
n.1857A>T
c.8516A>T (p.Glu2839Val)
c.8450A>T (p.Glu2817Val)
c.8513A>T (p.Glu2838Val)
c.8510A>T (p.Glu2837Val)
c.8456A>T (p.Glu2819Val)
c.8426A>T (p.Glu2809Val)
c.8381A>T (p.Glu2794Val)
c.7976A>T (p.Glu2659Val)
c.7334A>T (p.Glu2445Val)
c.4844A>T (p.Glu1615Val)
10g.71807532_71807534delCA5546625CDH23c.8325_8327del (p.Lys2775del)
c.2258_2260del (n.2258_2260del)
c.1922_1924del (n.1922_1924del)
c.8340_8342del (p.Lys2780del)
c.1605_1607del (p.Lys535del)
n.1861_1863del
c.8520_8522del (p.Lys2840del)
c.8454_8456del (p.Lys2818del)
c.8517_8519del (p.Lys2839del)
c.8514_8516del (p.Lys2838del)
c.8460_8462del (p.Lys2820del)
c.8430_8432del (p.Lys2810del)
c.8385_8387del (p.Lys2795del)
c.7980_7982del (p.Lys2660del)
c.7338_7340del (p.Lys2446del)
c.4848_4850del (p.Lys1616del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807529G>ACA5546626CDH23c.8322G>A (p.Glu2774=)
c.2255G>A (n.2255G>A)
c.1919G>A (n.1919G>A)
c.8337G>A (p.Glu2779=)
c.1602G>A (p.Glu534=)
n.1858G>A
c.8517G>A (p.Glu2839=)
c.8451G>A (p.Glu2817=)
c.8514G>A (p.Glu2838=)
c.8511G>A (p.Glu2837=)
c.8457G>A (p.Glu2819=)
c.8427G>A (p.Glu2809=)
c.8382G>A (p.Glu2794=)
c.7977G>A (p.Glu2659=)
c.7335G>A (p.Glu2445=)
c.4845G>A (p.Glu1615=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807529G>CCA377131311CDH23c.8322G>C (p.Glu2774Asp)
c.2255G>C (n.2255G>C)
c.1919G>C (n.1919G>C)
c.8337G>C (p.Glu2779Asp)
c.1602G>C (p.Glu534Asp)
n.1858G>C
c.8517G>C (p.Glu2839Asp)
c.8451G>C (p.Glu2817Asp)
c.8514G>C (p.Glu2838Asp)
c.8511G>C (p.Glu2837Asp)
c.8457G>C (p.Glu2819Asp)
c.8427G>C (p.Glu2809Asp)
c.8382G>C (p.Glu2794Asp)
c.7977G>C (p.Glu2659Asp)
c.7335G>C (p.Glu2445Asp)
c.4845G>C (p.Glu1615Asp)
10g.71807529G=CA1918886473CDH23c.8322G= (p.Glu2774=)
c.2255G= (n.2255G=)
c.1919G= (n.1919G=)
c.8337G= (p.Glu2779=)
c.1602G= (p.Glu534=)
n.1858G=
c.8517G= (p.Glu2839=)
c.8451G= (p.Glu2817=)
c.8514G= (p.Glu2838=)
c.8511G= (p.Glu2837=)
c.8457G= (p.Glu2819=)
c.8427G= (p.Glu2809=)
c.8382G= (p.Glu2794=)
c.7977G= (p.Glu2659=)
c.7335G= (p.Glu2445=)
c.4845G= (p.Glu1615=)
10g.71807529G>TCA377131312CDH23c.8322G>T (p.Glu2774Asp)
c.2255G>T (n.2255G>T)
c.1919G>T (n.1919G>T)
c.8337G>T (p.Glu2779Asp)
c.1602G>T (p.Glu534Asp)
n.1858G>T
c.8517G>T (p.Glu2839Asp)
c.8451G>T (p.Glu2817Asp)
c.8514G>T (p.Glu2838Asp)
c.8511G>T (p.Glu2837Asp)
c.8457G>T (p.Glu2819Asp)
c.8427G>T (p.Glu2809Asp)
c.8382G>T (p.Glu2794Asp)
c.7977G>T (p.Glu2659Asp)
c.7335G>T (p.Glu2445Asp)
c.4845G>T (p.Glu1615Asp)
10g.71807530A>CCA377131313CDH23c.8323A>C (p.Lys2775Gln)
c.2256A>C (n.2256A>C)
c.1920A>C (n.1920A>C)
c.8338A>C (p.Lys2780Gln)
c.1603A>C (p.Lys535Gln)
n.1859A>C
c.8518A>C (p.Lys2840Gln)
c.8452A>C (p.Lys2818Gln)
c.8515A>C (p.Lys2839Gln)
c.8512A>C (p.Lys2838Gln)
c.8458A>C (p.Lys2820Gln)
c.8428A>C (p.Lys2810Gln)
c.8383A>C (p.Lys2795Gln)
c.7978A>C (p.Lys2660Gln)
c.7336A>C (p.Lys2446Gln)
c.4846A>C (p.Lys1616Gln)
10g.71807530A>GCA377131314CDH23c.8323A>G (p.Lys2775Glu)
c.2256A>G (n.2256A>G)
c.1920A>G (n.1920A>G)
c.8338A>G (p.Lys2780Glu)
c.1603A>G (p.Lys535Glu)
n.1859A>G
c.8518A>G (p.Lys2840Glu)
c.8452A>G (p.Lys2818Glu)
c.8515A>G (p.Lys2839Glu)
c.8512A>G (p.Lys2838Glu)
c.8458A>G (p.Lys2820Glu)
c.8428A>G (p.Lys2810Glu)
c.8383A>G (p.Lys2795Glu)
c.7978A>G (p.Lys2660Glu)
c.7336A>G (p.Lys2446Glu)
c.4846A>G (p.Lys1616Glu)
10g.71807530A>TCA377131315CDH23c.8323A>T (p.Lys2775Ter)
c.2256A>T (n.2256A>T)
c.1920A>T (n.1920A>T)
c.8338A>T (p.Lys2780Ter)
c.1603A>T (p.Lys535Ter)
n.1859A>T
c.8518A>T (p.Lys2840Ter)
c.8452A>T (p.Lys2818Ter)
c.8515A>T (p.Lys2839Ter)
c.8512A>T (p.Lys2838Ter)
c.8458A>T (p.Lys2820Ter)
c.8428A>T (p.Lys2810Ter)
c.8383A>T (p.Lys2795Ter)
c.7978A>T (p.Lys2660Ter)
c.7336A>T (p.Lys2446Ter)
c.4846A>T (p.Lys1616Ter)
10g.71807531A>CCA377131316CDH23c.8324A>C (p.Lys2775Thr)
c.2257A>C (n.2257A>C)
c.1921A>C (n.1921A>C)
c.8339A>C (p.Lys2780Thr)
c.1604A>C (p.Lys535Thr)
n.1860A>C
c.8519A>C (p.Lys2840Thr)
c.8453A>C (p.Lys2818Thr)
c.8516A>C (p.Lys2839Thr)
c.8513A>C (p.Lys2838Thr)
c.8459A>C (p.Lys2820Thr)
c.8429A>C (p.Lys2810Thr)
c.8384A>C (p.Lys2795Thr)
c.7979A>C (p.Lys2660Thr)
c.7337A>C (p.Lys2446Thr)
c.4847A>C (p.Lys1616Thr)
10g.71807531A>GCA377131317CDH23c.8324A>G (p.Lys2775Arg)
c.2257A>G (n.2257A>G)
c.1921A>G (n.1921A>G)
c.8339A>G (p.Lys2780Arg)
c.1604A>G (p.Lys535Arg)
n.1860A>G
c.8519A>G (p.Lys2840Arg)
c.8453A>G (p.Lys2818Arg)
c.8516A>G (p.Lys2839Arg)
c.8513A>G (p.Lys2838Arg)
c.8459A>G (p.Lys2820Arg)
c.8429A>G (p.Lys2810Arg)
c.8384A>G (p.Lys2795Arg)
c.7979A>G (p.Lys2660Arg)
c.7337A>G (p.Lys2446Arg)
c.4847A>G (p.Lys1616Arg)
10g.71807531A>TCA377131318CDH23c.8324A>T (p.Lys2775Met)
c.2257A>T (n.2257A>T)
c.1921A>T (n.1921A>T)
c.8339A>T (p.Lys2780Met)
c.1604A>T (p.Lys535Met)
n.1860A>T
c.8519A>T (p.Lys2840Met)
c.8453A>T (p.Lys2818Met)
c.8516A>T (p.Lys2839Met)
c.8513A>T (p.Lys2838Met)
c.8459A>T (p.Lys2820Met)
c.8429A>T (p.Lys2810Met)
c.8384A>T (p.Lys2795Met)
c.7979A>T (p.Lys2660Met)
c.7337A>T (p.Lys2446Met)
c.4847A>T (p.Lys1616Met)
10g.71807532G>ACA470282388CDH23c.8325G>A (p.Lys2775=)
c.2258G>A (n.2258G>A)
c.1922G>A (n.1922G>A)
c.8340G>A (p.Lys2780=)
c.1605G>A (p.Lys535=)
n.1861G>A
c.8520G>A (p.Lys2840=)
c.8454G>A (p.Lys2818=)
c.8517G>A (p.Lys2839=)
c.8514G>A (p.Lys2838=)
c.8460G>A (p.Lys2820=)
c.8430G>A (p.Lys2810=)
c.8385G>A (p.Lys2795=)
c.7980G>A (p.Lys2660=)
c.7338G>A (p.Lys2446=)
c.4848G>A (p.Lys1616=)
10g.71807532G>CCA377131319CDH23c.8325G>C (p.Lys2775Asn)
c.2258G>C (n.2258G>C)
c.1922G>C (n.1922G>C)
c.8340G>C (p.Lys2780Asn)
c.1605G>C (p.Lys535Asn)
n.1861G>C
c.8520G>C (p.Lys2840Asn)
c.8454G>C (p.Lys2818Asn)
c.8517G>C (p.Lys2839Asn)
c.8514G>C (p.Lys2838Asn)
c.8460G>C (p.Lys2820Asn)
c.8430G>C (p.Lys2810Asn)
c.8385G>C (p.Lys2795Asn)
c.7980G>C (p.Lys2660Asn)
c.7338G>C (p.Lys2446Asn)
c.4848G>C (p.Lys1616Asn)
 dbSNP
10g.71807532G>TCA377131320CDH23c.8325G>T (p.Lys2775Asn)
c.2258G>T (n.2258G>T)
c.1922G>T (n.1922G>T)
c.8340G>T (p.Lys2780Asn)
c.1605G>T (p.Lys535Asn)
n.1861G>T
c.8520G>T (p.Lys2840Asn)
c.8454G>T (p.Lys2818Asn)
c.8517G>T (p.Lys2839Asn)
c.8514G>T (p.Lys2838Asn)
c.8460G>T (p.Lys2820Asn)
c.8430G>T (p.Lys2810Asn)
c.8385G>T (p.Lys2795Asn)
c.7980G>T (p.Lys2660Asn)
c.7338G>T (p.Lys2446Asn)
c.4848G>T (p.Lys1616Asn)
10g.71807533A>CCA377131321CDH23c.8326A>C (p.Asn2776His)
c.2259A>C (n.2259A>C)
c.1923A>C (n.1923A>C)
c.8341A>C (p.Asn2781His)
c.1606A>C (p.Asn536His)
n.1862A>C
c.8521A>C (p.Asn2841His)
c.8455A>C (p.Asn2819His)
c.8518A>C (p.Asn2840His)
c.8515A>C (p.Asn2839His)
c.8461A>C (p.Asn2821His)
c.8431A>C (p.Asn2811His)
c.8386A>C (p.Asn2796His)
c.7981A>C (p.Asn2661His)
c.7339A>C (p.Asn2447His)
c.4849A>C (p.Asn1617His)
10g.71807533A>GCA377131323CDH23c.8326A>G (p.Asn2776Asp)
c.2259A>G (n.2259A>G)
c.1923A>G (n.1923A>G)
c.8341A>G (p.Asn2781Asp)
c.1606A>G (p.Asn536Asp)
n.1862A>G
c.8521A>G (p.Asn2841Asp)
c.8455A>G (p.Asn2819Asp)
c.8518A>G (p.Asn2840Asp)
c.8515A>G (p.Asn2839Asp)
c.8461A>G (p.Asn2821Asp)
c.8431A>G (p.Asn2811Asp)
c.8386A>G (p.Asn2796Asp)
c.7981A>G (p.Asn2661Asp)
c.7339A>G (p.Asn2447Asp)
c.4849A>G (p.Asn1617Asp)
10g.71807533A>TCA377131322CDH23c.8326A>T (p.Asn2776Tyr)
c.2259A>T (n.2259A>T)
c.1923A>T (n.1923A>T)
c.8341A>T (p.Asn2781Tyr)
c.1606A>T (p.Asn536Tyr)
n.1862A>T
c.8521A>T (p.Asn2841Tyr)
c.8455A>T (p.Asn2819Tyr)
c.8518A>T (p.Asn2840Tyr)
c.8515A>T (p.Asn2839Tyr)
c.8461A>T (p.Asn2821Tyr)
c.8431A>T (p.Asn2811Tyr)
c.8386A>T (p.Asn2796Tyr)
c.7981A>T (p.Asn2661Tyr)
c.7339A>T (p.Asn2447Tyr)
c.4849A>T (p.Asn1617Tyr)
10g.71807534A=CA1918886475CDH23c.8327A= (p.Asn2776=)
c.2260A= (n.2260A=)
c.1924A= (n.1924A=)
c.8342A= (p.Asn2781=)
c.1607A= (p.Asn536=)
n.1863A=
c.8522A= (p.Asn2841=)
c.8456A= (p.Asn2819=)
c.8519A= (p.Asn2840=)
c.8516A= (p.Asn2839=)
c.8462A= (p.Asn2821=)
c.8432A= (p.Asn2811=)
c.8387A= (p.Asn2796=)
c.7982A= (p.Asn2661=)
c.7340A= (p.Asn2447=)
c.4850A= (p.Asn1617=)
10g.71807534A>CCA377131324CDH23c.8327A>C (p.Asn2776Thr)
c.2260A>C (n.2260A>C)
c.1924A>C (n.1924A>C)
c.8342A>C (p.Asn2781Thr)
c.1607A>C (p.Asn536Thr)
n.1863A>C
c.8522A>C (p.Asn2841Thr)
c.8456A>C (p.Asn2819Thr)
c.8519A>C (p.Asn2840Thr)
c.8516A>C (p.Asn2839Thr)
c.8462A>C (p.Asn2821Thr)
c.8432A>C (p.Asn2811Thr)
c.8387A>C (p.Asn2796Thr)
c.7982A>C (p.Asn2661Thr)
c.7340A>C (p.Asn2447Thr)
c.4850A>C (p.Asn1617Thr)
10g.71807534A>GCA377131325CDH23c.8327A>G (p.Asn2776Ser)
c.2260A>G (n.2260A>G)
c.1924A>G (n.1924A>G)
c.8342A>G (p.Asn2781Ser)
c.1607A>G (p.Asn536Ser)
n.1863A>G
c.8522A>G (p.Asn2841Ser)
c.8456A>G (p.Asn2819Ser)
c.8519A>G (p.Asn2840Ser)
c.8516A>G (p.Asn2839Ser)
c.8462A>G (p.Asn2821Ser)
c.8432A>G (p.Asn2811Ser)
c.8387A>G (p.Asn2796Ser)
c.7982A>G (p.Asn2661Ser)
c.7340A>G (p.Asn2447Ser)
c.4850A>G (p.Asn1617Ser)
10g.71807534A>TCA5546627CDH23c.8327A>T (p.Asn2776Ile)
c.2260A>T (n.2260A>T)
c.1924A>T (n.1924A>T)
c.8342A>T (p.Asn2781Ile)
c.1607A>T (p.Asn536Ile)
n.1863A>T
c.8522A>T (p.Asn2841Ile)
c.8456A>T (p.Asn2819Ile)
c.8519A>T (p.Asn2840Ile)
c.8516A>T (p.Asn2839Ile)
c.8462A>T (p.Asn2821Ile)
c.8432A>T (p.Asn2811Ile)
c.8387A>T (p.Asn2796Ile)
c.7982A>T (p.Asn2661Ile)
c.7340A>T (p.Asn2447Ile)
c.4850A>T (p.Asn1617Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807535C>ACA377131326CDH23c.8328C>A (p.Asn2776Lys)
c.2261C>A (n.2261C>A)
c.1925C>A (n.1925C>A)
c.8343C>A (p.Asn2781Lys)
c.1608C>A (p.Asn536Lys)
n.1864C>A
c.8523C>A (p.Asn2841Lys)
c.8457C>A (p.Asn2819Lys)
c.8520C>A (p.Asn2840Lys)
c.8517C>A (p.Asn2839Lys)
c.8463C>A (p.Asn2821Lys)
c.8433C>A (p.Asn2811Lys)
c.8388C>A (p.Asn2796Lys)
c.7983C>A (p.Asn2661Lys)
c.7341C>A (p.Asn2447Lys)
c.4851C>A (p.Asn1617Lys)
10g.71807535C>GCA377131327CDH23c.8328C>G (p.Asn2776Lys)
c.2261C>G (n.2261C>G)
c.1925C>G (n.1925C>G)
c.8343C>G (p.Asn2781Lys)
c.1608C>G (p.Asn536Lys)
n.1864C>G
c.8523C>G (p.Asn2841Lys)
c.8457C>G (p.Asn2819Lys)
c.8520C>G (p.Asn2840Lys)
c.8517C>G (p.Asn2839Lys)
c.8463C>G (p.Asn2821Lys)
c.8433C>G (p.Asn2811Lys)
c.8388C>G (p.Asn2796Lys)
c.7983C>G (p.Asn2661Lys)
c.7341C>G (p.Asn2447Lys)
c.4851C>G (p.Asn1617Lys)
10g.71807535C>TCA470282389CDH23c.8328C>T (p.Asn2776=)
c.2261C>T (n.2261C>T)
c.1925C>T (n.1925C>T)
c.8343C>T (p.Asn2781=)
c.1608C>T (p.Asn536=)
n.1864C>T
c.8523C>T (p.Asn2841=)
c.8457C>T (p.Asn2819=)
c.8520C>T (p.Asn2840=)
c.8517C>T (p.Asn2839=)
c.8463C>T (p.Asn2821=)
c.8433C>T (p.Asn2811=)
c.8388C>T (p.Asn2796=)
c.7983C>T (p.Asn2661=)
c.7341C>T (p.Asn2447=)
c.4851C>T (p.Asn1617=)
10g.71807536T>ACA377131328CDH23c.8329T>A (p.Phe2777Ile)
c.2262T>A (n.2262T>A)
c.1926T>A (n.1926T>A)
c.8344T>A (p.Phe2782Ile)
c.1609T>A (p.Phe537Ile)
n.1865T>A
c.8524T>A (p.Phe2842Ile)
c.8458T>A (p.Phe2820Ile)
c.8521T>A (p.Phe2841Ile)
c.8518T>A (p.Phe2840Ile)
c.8464T>A (p.Phe2822Ile)
c.8434T>A (p.Phe2812Ile)
c.8389T>A (p.Phe2797Ile)
c.7984T>A (p.Phe2662Ile)
c.7342T>A (p.Phe2448Ile)
c.4852T>A (p.Phe1618Ile)
10g.71807536T>CCA377131329CDH23c.8329T>C (p.Phe2777Leu)
c.2262T>C (n.2262T>C)
c.1926T>C (n.1926T>C)
c.8344T>C (p.Phe2782Leu)
c.1609T>C (p.Phe537Leu)
n.1865T>C
c.8524T>C (p.Phe2842Leu)
c.8458T>C (p.Phe2820Leu)
c.8521T>C (p.Phe2841Leu)
c.8518T>C (p.Phe2840Leu)
c.8464T>C (p.Phe2822Leu)
c.8434T>C (p.Phe2812Leu)
c.8389T>C (p.Phe2797Leu)
c.7984T>C (p.Phe2662Leu)
c.7342T>C (p.Phe2448Leu)
c.4852T>C (p.Phe1618Leu)
10g.71807536T>GCA377131330CDH23c.8329T>G (p.Phe2777Val)
c.2262T>G (n.2262T>G)
c.1926T>G (n.1926T>G)
c.8344T>G (p.Phe2782Val)
c.1609T>G (p.Phe537Val)
n.1865T>G
c.8524T>G (p.Phe2842Val)
c.8458T>G (p.Phe2820Val)
c.8521T>G (p.Phe2841Val)
c.8518T>G (p.Phe2840Val)
c.8464T>G (p.Phe2822Val)
c.8434T>G (p.Phe2812Val)
c.8389T>G (p.Phe2797Val)
c.7984T>G (p.Phe2662Val)
c.7342T>G (p.Phe2448Val)
c.4852T>G (p.Phe1618Val)
10g.71807537T>ACA377131331CDH23c.8330T>A (p.Phe2777Tyr)
c.2263T>A (n.2263T>A)
c.1927T>A (n.1927T>A)
c.8345T>A (p.Phe2782Tyr)
c.1610T>A (p.Phe537Tyr)
n.1866T>A
c.8525T>A (p.Phe2842Tyr)
c.8459T>A (p.Phe2820Tyr)
c.8522T>A (p.Phe2841Tyr)
c.8519T>A (p.Phe2840Tyr)
c.8465T>A (p.Phe2822Tyr)
c.8435T>A (p.Phe2812Tyr)
c.8390T>A (p.Phe2797Tyr)
c.7985T>A (p.Phe2662Tyr)
c.7343T>A (p.Phe2448Tyr)
c.4853T>A (p.Phe1618Tyr)
10g.71807537T>CCA377131332CDH23c.8330T>C (p.Phe2777Ser)
c.2263T>C (n.2263T>C)
c.1927T>C (n.1927T>C)
c.8345T>C (p.Phe2782Ser)
c.1610T>C (p.Phe537Ser)
n.1866T>C
c.8525T>C (p.Phe2842Ser)
c.8459T>C (p.Phe2820Ser)
c.8522T>C (p.Phe2841Ser)
c.8519T>C (p.Phe2840Ser)
c.8465T>C (p.Phe2822Ser)
c.8435T>C (p.Phe2812Ser)
c.8390T>C (p.Phe2797Ser)
c.7985T>C (p.Phe2662Ser)
c.7343T>C (p.Phe2448Ser)
c.4853T>C (p.Phe1618Ser)
 gnomAD v4
10g.71807537T>GCA377131333CDH23c.8330T>G (p.Phe2777Cys)
c.2263T>G (n.2263T>G)
c.1927T>G (n.1927T>G)
c.8345T>G (p.Phe2782Cys)
c.1610T>G (p.Phe537Cys)
n.1866T>G
c.8525T>G (p.Phe2842Cys)
c.8459T>G (p.Phe2820Cys)
c.8522T>G (p.Phe2841Cys)
c.8519T>G (p.Phe2840Cys)
c.8465T>G (p.Phe2822Cys)
c.8435T>G (p.Phe2812Cys)
c.8390T>G (p.Phe2797Cys)
c.7985T>G (p.Phe2662Cys)
c.7343T>G (p.Phe2448Cys)
c.4853T>G (p.Phe1618Cys)
10g.71807538C>ACA377131334CDH23c.8331C>A (p.Phe2777Leu)
c.2264C>A (n.2264C>A)
c.1928C>A (n.1928C>A)
c.8346C>A (p.Phe2782Leu)
c.1611C>A (p.Phe537Leu)
n.1867C>A
c.8526C>A (p.Phe2842Leu)
c.8460C>A (p.Phe2820Leu)
c.8523C>A (p.Phe2841Leu)
c.8520C>A (p.Phe2840Leu)
c.8466C>A (p.Phe2822Leu)
c.8436C>A (p.Phe2812Leu)
c.8391C>A (p.Phe2797Leu)
c.7986C>A (p.Phe2662Leu)
c.7344C>A (p.Phe2448Leu)
c.4854C>A (p.Phe1618Leu)
10g.71807538C>GCA377131335CDH23c.8331C>G (p.Phe2777Leu)
c.2264C>G (n.2264C>G)
c.1928C>G (n.1928C>G)
c.8346C>G (p.Phe2782Leu)
c.1611C>G (p.Phe537Leu)
n.1867C>G
c.8526C>G (p.Phe2842Leu)
c.8460C>G (p.Phe2820Leu)
c.8523C>G (p.Phe2841Leu)
c.8520C>G (p.Phe2840Leu)
c.8466C>G (p.Phe2822Leu)
c.8436C>G (p.Phe2812Leu)
c.8391C>G (p.Phe2797Leu)
c.7986C>G (p.Phe2662Leu)
c.7344C>G (p.Phe2448Leu)
c.4854C>G (p.Phe1618Leu)
10g.71807538C>TCA470282390CDH23c.8331C>T (p.Phe2777=)
c.2264C>T (n.2264C>T)
c.1928C>T (n.1928C>T)
c.8346C>T (p.Phe2782=)
c.1611C>T (p.Phe537=)
n.1867C>T
c.8526C>T (p.Phe2842=)
c.8460C>T (p.Phe2820=)
c.8523C>T (p.Phe2841=)
c.8520C>T (p.Phe2840=)
c.8466C>T (p.Phe2822=)
c.8436C>T (p.Phe2812=)
c.8391C>T (p.Phe2797=)
c.7986C>T (p.Phe2662=)
c.7344C>T (p.Phe2448=)
c.4854C>T (p.Phe1618=)
 gnomAD v4 COSMIC
10g.71807539C>ACA377131337CDH23c.8332C>A (p.His2778Asn)
c.2265C>A (n.2265C>A)
c.1929C>A (n.1929C>A)
c.8347C>A (p.His2783Asn)
c.1612C>A (p.His538Asn)
n.1868C>A
c.8527C>A (p.His2843Asn)
c.8461C>A (p.His2821Asn)
c.8524C>A (p.His2842Asn)
c.8521C>A (p.His2841Asn)
c.8467C>A (p.His2823Asn)
c.8437C>A (p.His2813Asn)
c.8392C>A (p.His2798Asn)
c.7987C>A (p.His2663Asn)
c.7345C>A (p.His2449Asn)
c.4855C>A (p.His1619Asn)
 dbSNP gnomAD v4
10g.71807539C>GCA377131338CDH23c.8332C>G (p.His2778Asp)
c.2265C>G (n.2265C>G)
c.1929C>G (n.1929C>G)
c.8347C>G (p.His2783Asp)
c.1612C>G (p.His538Asp)
n.1868C>G
c.8527C>G (p.His2843Asp)
c.8461C>G (p.His2821Asp)
c.8524C>G (p.His2842Asp)
c.8521C>G (p.His2841Asp)
c.8467C>G (p.His2823Asp)
c.8437C>G (p.His2813Asp)
c.8392C>G (p.His2798Asp)
c.7987C>G (p.His2663Asp)
c.7345C>G (p.His2449Asp)
c.4855C>G (p.His1619Asp)
10g.71807539C>TCA377131336CDH23c.8332C>T (p.His2778Tyr)
c.2265C>T (n.2265C>T)
c.1929C>T (n.1929C>T)
c.8347C>T (p.His2783Tyr)
c.1612C>T (p.His538Tyr)
n.1868C>T
c.8527C>T (p.His2843Tyr)
c.8461C>T (p.His2821Tyr)
c.8524C>T (p.His2842Tyr)
c.8521C>T (p.His2841Tyr)
c.8467C>T (p.His2823Tyr)
c.8437C>T (p.His2813Tyr)
c.8392C>T (p.His2798Tyr)
c.7987C>T (p.His2663Tyr)
c.7345C>T (p.His2449Tyr)
c.4855C>T (p.His1619Tyr)
 dbSNP gnomAD v4
10g.71807540A>CCA377131339CDH23c.8333A>C (p.His2778Pro)
c.2266A>C (n.2266A>C)
c.1930A>C (n.1930A>C)
c.8348A>C (p.His2783Pro)
c.1613A>C (p.His538Pro)
n.1869A>C
c.8528A>C (p.His2843Pro)
c.8462A>C (p.His2821Pro)
c.8525A>C (p.His2842Pro)
c.8522A>C (p.His2841Pro)
c.8468A>C (p.His2823Pro)
c.8438A>C (p.His2813Pro)
c.8393A>C (p.His2798Pro)
c.7988A>C (p.His2663Pro)
c.7346A>C (p.His2449Pro)
c.4856A>C (p.His1619Pro)
10g.71807540A>GCA377131340CDH23c.8333A>G (p.His2778Arg)
c.2266A>G (n.2266A>G)
c.1930A>G (n.1930A>G)
c.8348A>G (p.His2783Arg)
c.1613A>G (p.His538Arg)
n.1869A>G
c.8528A>G (p.His2843Arg)
c.8462A>G (p.His2821Arg)
c.8525A>G (p.His2842Arg)
c.8522A>G (p.His2841Arg)
c.8468A>G (p.His2823Arg)
c.8438A>G (p.His2813Arg)
c.8393A>G (p.His2798Arg)
c.7988A>G (p.His2663Arg)
c.7346A>G (p.His2449Arg)
c.4856A>G (p.His1619Arg)
10g.71807540A>TCA377131341CDH23c.8333A>T (p.His2778Leu)
c.2266A>T (n.2266A>T)
c.1930A>T (n.1930A>T)
c.8348A>T (p.His2783Leu)
c.1613A>T (p.His538Leu)
n.1869A>T
c.8528A>T (p.His2843Leu)
c.8462A>T (p.His2821Leu)
c.8525A>T (p.His2842Leu)
c.8522A>T (p.His2841Leu)
c.8468A>T (p.His2823Leu)
c.8438A>T (p.His2813Leu)
c.8393A>T (p.His2798Leu)
c.7988A>T (p.His2663Leu)
c.7346A>T (p.His2449Leu)
c.4856A>T (p.His1619Leu)
10g.71807541T>ACA377131342CDH23c.8334T>A (p.His2778Gln)
c.2267T>A (n.2267T>A)
c.1931T>A (n.1931T>A)
c.8349T>A (p.His2783Gln)
c.1614T>A (p.His538Gln)
n.1870T>A
c.8529T>A (p.His2843Gln)
c.8463T>A (p.His2821Gln)
c.8526T>A (p.His2842Gln)
c.8523T>A (p.His2841Gln)
c.8469T>A (p.His2823Gln)
c.8439T>A (p.His2813Gln)
c.8394T>A (p.His2798Gln)
c.7989T>A (p.His2663Gln)
c.7347T>A (p.His2449Gln)
c.4857T>A (p.His1619Gln)
 gnomAD v4
10g.71807541T>CCA470282391CDH23c.8334T>C (p.His2778=)
c.2267T>C (n.2267T>C)
c.1931T>C (n.1931T>C)
c.8349T>C (p.His2783=)
c.1614T>C (p.His538=)
n.1870T>C
c.8529T>C (p.His2843=)
c.8463T>C (p.His2821=)
c.8526T>C (p.His2842=)
c.8523T>C (p.His2841=)
c.8469T>C (p.His2823=)
c.8439T>C (p.His2813=)
c.8394T>C (p.His2798=)
c.7989T>C (p.His2663=)
c.7347T>C (p.His2449=)
c.4857T>C (p.His1619=)
 ClinVar
10g.71807541T>GCA377131343CDH23c.8334T>G (p.His2778Gln)
c.2267T>G (n.2267T>G)
c.1931T>G (n.1931T>G)
c.8349T>G (p.His2783Gln)
c.1614T>G (p.His538Gln)
n.1870T>G
c.8529T>G (p.His2843Gln)
c.8463T>G (p.His2821Gln)
c.8526T>G (p.His2842Gln)
c.8523T>G (p.His2841Gln)
c.8469T>G (p.His2823Gln)
c.8439T>G (p.His2813Gln)
c.8394T>G (p.His2798Gln)
c.7989T>G (p.His2663Gln)
c.7347T>G (p.His2449Gln)
c.4857T>G (p.His1619Gln)
10g.71807542C>ACA377131345CDH23c.8335C>A (p.Leu2779Met)
c.2268C>A (n.2268C>A)
c.1932C>A (n.1932C>A)
c.8350C>A (p.Leu2784Met)
c.1615C>A (p.Leu539Met)
n.1871C>A
c.8530C>A (p.Leu2844Met)
c.8464C>A (p.Leu2822Met)
c.8527C>A (p.Leu2843Met)
c.8524C>A (p.Leu2842Met)
c.8470C>A (p.Leu2824Met)
c.8440C>A (p.Leu2814Met)
c.8395C>A (p.Leu2799Met)
c.7990C>A (p.Leu2664Met)
c.7348C>A (p.Leu2450Met)
c.4858C>A (p.Leu1620Met)
10g.71807542C>GCA377131344CDH23c.8335C>G (p.Leu2779Val)
c.2268C>G (n.2268C>G)
c.1932C>G (n.1932C>G)
c.8350C>G (p.Leu2784Val)
c.1615C>G (p.Leu539Val)
n.1871C>G
c.8530C>G (p.Leu2844Val)
c.8464C>G (p.Leu2822Val)
c.8527C>G (p.Leu2843Val)
c.8524C>G (p.Leu2842Val)
c.8470C>G (p.Leu2824Val)
c.8440C>G (p.Leu2814Val)
c.8395C>G (p.Leu2799Val)
c.7990C>G (p.Leu2664Val)
c.7348C>G (p.Leu2450Val)
c.4858C>G (p.Leu1620Val)
10g.71807542C>TCA470282392CDH23c.8335C>T (p.Leu2779=)
c.2268C>T (n.2268C>T)
c.1932C>T (n.1932C>T)
c.8350C>T (p.Leu2784=)
c.1615C>T (p.Leu539=)
n.1871C>T
c.8530C>T (p.Leu2844=)
c.8464C>T (p.Leu2822=)
c.8527C>T (p.Leu2843=)
c.8524C>T (p.Leu2842=)
c.8470C>T (p.Leu2824=)
c.8440C>T (p.Leu2814=)
c.8395C>T (p.Leu2799=)
c.7990C>T (p.Leu2664=)
c.7348C>T (p.Leu2450=)
c.4858C>T (p.Leu1620=)
10g.71807543T>ACA377131346CDH23c.8336T>A (p.Leu2779Gln)
c.2269T>A (n.2269T>A)
c.1933T>A (n.1933T>A)
c.8351T>A (p.Leu2784Gln)
c.1616T>A (p.Leu539Gln)
n.1872T>A
c.8531T>A (p.Leu2844Gln)
c.8465T>A (p.Leu2822Gln)
c.8528T>A (p.Leu2843Gln)
c.8525T>A (p.Leu2842Gln)
c.8471T>A (p.Leu2824Gln)
c.8441T>A (p.Leu2814Gln)
c.8396T>A (p.Leu2799Gln)
c.7991T>A (p.Leu2664Gln)
c.7349T>A (p.Leu2450Gln)
c.4859T>A (p.Leu1620Gln)
10g.71807543T>CCA377131347CDH23c.8336T>C (p.Leu2779Pro)
c.2269T>C (n.2269T>C)
c.1933T>C (n.1933T>C)
c.8351T>C (p.Leu2784Pro)
c.1616T>C (p.Leu539Pro)
n.1872T>C
c.8531T>C (p.Leu2844Pro)
c.8465T>C (p.Leu2822Pro)
c.8528T>C (p.Leu2843Pro)
c.8525T>C (p.Leu2842Pro)
c.8471T>C (p.Leu2824Pro)
c.8441T>C (p.Leu2814Pro)
c.8396T>C (p.Leu2799Pro)
c.7991T>C (p.Leu2664Pro)
c.7349T>C (p.Leu2450Pro)
c.4859T>C (p.Leu1620Pro)
 ClinVar
10g.71807543T>GCA377131348CDH23c.8336T>G (p.Leu2779Arg)
c.2269T>G (n.2269T>G)
c.1933T>G (n.1933T>G)
c.8351T>G (p.Leu2784Arg)
c.1616T>G (p.Leu539Arg)
n.1872T>G
c.8531T>G (p.Leu2844Arg)
c.8465T>G (p.Leu2822Arg)
c.8528T>G (p.Leu2843Arg)
c.8525T>G (p.Leu2842Arg)
c.8471T>G (p.Leu2824Arg)
c.8441T>G (p.Leu2814Arg)
c.8396T>G (p.Leu2799Arg)
c.7991T>G (p.Leu2664Arg)
c.7349T>G (p.Leu2450Arg)
c.4859T>G (p.Leu1620Arg)
10g.71807544G>ACA470282394CDH23c.8337G>A (p.Leu2779=)
c.2270G>A (n.2270G>A)
c.1934G>A (n.1934G>A)
c.8352G>A (p.Leu2784=)
c.1617G>A (p.Leu539=)
n.1873G>A
c.8532G>A (p.Leu2844=)
c.8466G>A (p.Leu2822=)
c.8529G>A (p.Leu2843=)
c.8526G>A (p.Leu2842=)
c.8472G>A (p.Leu2824=)
c.8442G>A (p.Leu2814=)
c.8397G>A (p.Leu2799=)
c.7992G>A (p.Leu2664=)
c.7350G>A (p.Leu2450=)
c.4860G>A (p.Leu1620=)
 dbSNP COSMIC
10g.71807544G>CCA470282395CDH23c.8337G>C (p.Leu2779=)
c.2270G>C (n.2270G>C)
c.1934G>C (n.1934G>C)
c.8352G>C (p.Leu2784=)
c.1617G>C (p.Leu539=)
n.1873G>C
c.8532G>C (p.Leu2844=)
c.8466G>C (p.Leu2822=)
c.8529G>C (p.Leu2843=)
c.8526G>C (p.Leu2842=)
c.8472G>C (p.Leu2824=)
c.8442G>C (p.Leu2814=)
c.8397G>C (p.Leu2799=)
c.7992G>C (p.Leu2664=)
c.7350G>C (p.Leu2450=)
c.4860G>C (p.Leu1620=)
10g.71807544G>TCA470282393CDH23c.8337G>T (p.Leu2779=)
c.2270G>T (n.2270G>T)
c.1934G>T (n.1934G>T)
c.8352G>T (p.Leu2784=)
c.1617G>T (p.Leu539=)
n.1873G>T
c.8532G>T (p.Leu2844=)
c.8466G>T (p.Leu2822=)
c.8529G>T (p.Leu2843=)
c.8526G>T (p.Leu2842=)
c.8472G>T (p.Leu2824=)
c.8442G>T (p.Leu2814=)
c.8397G>T (p.Leu2799=)
c.7992G>T (p.Leu2664=)
c.7350G>T (p.Leu2450=)
c.4860G>T (p.Leu1620=)
10g.71807545C>ACA377131349CDH23c.8338C>A (p.Gln2780Lys)
c.2271C>A (n.2271C>A)
c.1935C>A (n.1935C>A)
c.8353C>A (p.Gln2785Lys)
c.1618C>A (p.Gln540Lys)
n.1874C>A
c.8533C>A (p.Gln2845Lys)
c.8467C>A (p.Gln2823Lys)
c.8530C>A (p.Gln2844Lys)
c.8527C>A (p.Gln2843Lys)
c.8473C>A (p.Gln2825Lys)
c.8443C>A (p.Gln2815Lys)
c.8398C>A (p.Gln2800Lys)
c.7993C>A (p.Gln2665Lys)
c.7351C>A (p.Gln2451Lys)
c.4861C>A (p.Gln1621Lys)
10g.71807545C>GCA377131350CDH23c.8338C>G (p.Gln2780Glu)
c.2271C>G (n.2271C>G)
c.1935C>G (n.1935C>G)
c.8353C>G (p.Gln2785Glu)
c.1618C>G (p.Gln540Glu)
n.1874C>G
c.8533C>G (p.Gln2845Glu)
c.8467C>G (p.Gln2823Glu)
c.8530C>G (p.Gln2844Glu)
c.8527C>G (p.Gln2843Glu)
c.8473C>G (p.Gln2825Glu)
c.8443C>G (p.Gln2815Glu)
c.8398C>G (p.Gln2800Glu)
c.7993C>G (p.Gln2665Glu)
c.7351C>G (p.Gln2451Glu)
c.4861C>G (p.Gln1621Glu)
10g.71807545C>TCA377131351CDH23c.8338C>T (p.Gln2780Ter)
c.2271C>T (n.2271C>T)
c.1935C>T (n.1935C>T)
c.8353C>T (p.Gln2785Ter)
c.1618C>T (p.Gln540Ter)
n.1874C>T
c.8533C>T (p.Gln2845Ter)
c.8467C>T (p.Gln2823Ter)
c.8530C>T (p.Gln2844Ter)
c.8527C>T (p.Gln2843Ter)
c.8473C>T (p.Gln2825Ter)
c.8443C>T (p.Gln2815Ter)
c.8398C>T (p.Gln2800Ter)
c.7993C>T (p.Gln2665Ter)
c.7351C>T (p.Gln2451Ter)
c.4861C>T (p.Gln1621Ter)
10g.71807546A>CCA377131352CDH23c.8339A>C (p.Gln2780Pro)
c.2272A>C (n.2272A>C)
c.1936A>C (n.1936A>C)
c.8354A>C (p.Gln2785Pro)
c.1619A>C (p.Gln540Pro)
n.1875A>C
c.8534A>C (p.Gln2845Pro)
c.8468A>C (p.Gln2823Pro)
c.8531A>C (p.Gln2844Pro)
c.8528A>C (p.Gln2843Pro)
c.8474A>C (p.Gln2825Pro)
c.8444A>C (p.Gln2815Pro)
c.8399A>C (p.Gln2800Pro)
c.7994A>C (p.Gln2665Pro)
c.7352A>C (p.Gln2451Pro)
c.4862A>C (p.Gln1621Pro)
10g.71807546A>GCA377131354CDH23c.8339A>G (p.Gln2780Arg)
c.2272A>G (n.2272A>G)
c.1936A>G (n.1936A>G)
c.8354A>G (p.Gln2785Arg)
c.1619A>G (p.Gln540Arg)
n.1875A>G
c.8534A>G (p.Gln2845Arg)
c.8468A>G (p.Gln2823Arg)
c.8531A>G (p.Gln2844Arg)
c.8528A>G (p.Gln2843Arg)
c.8474A>G (p.Gln2825Arg)
c.8444A>G (p.Gln2815Arg)
c.8399A>G (p.Gln2800Arg)
c.7994A>G (p.Gln2665Arg)
c.7352A>G (p.Gln2451Arg)
c.4862A>G (p.Gln1621Arg)
10g.71807546A>TCA377131353CDH23c.8339A>T (p.Gln2780Leu)
c.2272A>T (n.2272A>T)
c.1936A>T (n.1936A>T)
c.8354A>T (p.Gln2785Leu)
c.1619A>T (p.Gln540Leu)
n.1875A>T
c.8534A>T (p.Gln2845Leu)
c.8468A>T (p.Gln2823Leu)
c.8531A>T (p.Gln2844Leu)
c.8528A>T (p.Gln2843Leu)
c.8474A>T (p.Gln2825Leu)
c.8444A>T (p.Gln2815Leu)
c.8399A>T (p.Gln2800Leu)
c.7994A>T (p.Gln2665Leu)
c.7352A>T (p.Gln2451Leu)
c.4862A>T (p.Gln1621Leu)
 COSMIC
10g.71807547G>ACA470282396CDH23c.8340G>A (p.Gln2780=)
c.2273G>A (n.2273G>A)
c.1937G>A (n.1937G>A)
c.8355G>A (p.Gln2785=)
c.1620G>A (p.Gln540=)
n.1876G>A
c.8535G>A (p.Gln2845=)
c.8469G>A (p.Gln2823=)
c.8532G>A (p.Gln2844=)
c.8529G>A (p.Gln2843=)
c.8475G>A (p.Gln2825=)
c.8445G>A (p.Gln2815=)
c.8400G>A (p.Gln2800=)
c.7995G>A (p.Gln2665=)
c.7353G>A (p.Gln2451=)
c.4863G>A (p.Gln1621=)
10g.71807547G>CCA377131355CDH23c.8340G>C (p.Gln2780His)
c.2273G>C (n.2273G>C)
c.1937G>C (n.1937G>C)
c.8355G>C (p.Gln2785His)
c.1620G>C (p.Gln540His)
n.1876G>C
c.8535G>C (p.Gln2845His)
c.8469G>C (p.Gln2823His)
c.8532G>C (p.Gln2844His)
c.8529G>C (p.Gln2843His)
c.8475G>C (p.Gln2825His)
c.8445G>C (p.Gln2815His)
c.8400G>C (p.Gln2800His)
c.7995G>C (p.Gln2665His)
c.7353G>C (p.Gln2451His)
c.4863G>C (p.Gln1621His)
10g.71807547G>TCA377131356CDH23c.8340G>T (p.Gln2780His)
c.2273G>T (n.2273G>T)
c.1937G>T (n.1937G>T)
c.8355G>T (p.Gln2785His)
c.1620G>T (p.Gln540His)
n.1876G>T
c.8535G>T (p.Gln2845His)
c.8469G>T (p.Gln2823His)
c.8532G>T (p.Gln2844His)
c.8529G>T (p.Gln2843His)
c.8475G>T (p.Gln2825His)
c.8445G>T (p.Gln2815His)
c.8400G>T (p.Gln2800His)
c.7995G>T (p.Gln2665His)
c.7353G>T (p.Gln2451His)
c.4863G>T (p.Gln1621His)
10g.71807548C>ACA377131357CDH23c.8341C>A (p.Pro2781Thr)
c.2274C>A (n.2274C>A)
c.1938C>A (n.1938C>A)
c.8356C>A (p.Pro2786Thr)
c.1621C>A (p.Pro541Thr)
n.1877C>A
c.8536C>A (p.Pro2846Thr)
c.8470C>A (p.Pro2824Thr)
c.8533C>A (p.Pro2845Thr)
c.8530C>A (p.Pro2844Thr)
c.8476C>A (p.Pro2826Thr)
c.8446C>A (p.Pro2816Thr)
c.8401C>A (p.Pro2801Thr)
c.7996C>A (p.Pro2666Thr)
c.7354C>A (p.Pro2452Thr)
c.4864C>A (p.Pro1622Thr)
10g.71807548C>GCA377131358CDH23c.8341C>G (p.Pro2781Ala)
c.2274C>G (n.2274C>G)
c.1938C>G (n.1938C>G)
c.8356C>G (p.Pro2786Ala)
c.1621C>G (p.Pro541Ala)
n.1877C>G
c.8536C>G (p.Pro2846Ala)
c.8470C>G (p.Pro2824Ala)
c.8533C>G (p.Pro2845Ala)
c.8530C>G (p.Pro2844Ala)
c.8476C>G (p.Pro2826Ala)
c.8446C>G (p.Pro2816Ala)
c.8401C>G (p.Pro2801Ala)
c.7996C>G (p.Pro2666Ala)
c.7354C>G (p.Pro2452Ala)
c.4864C>G (p.Pro1622Ala)
10g.71807548C>TCA377131359CDH23c.8341C>T (p.Pro2781Ser)
c.2274C>T (n.2274C>T)
c.1938C>T (n.1938C>T)
c.8356C>T (p.Pro2786Ser)
c.1621C>T (p.Pro541Ser)
n.1877C>T
c.8536C>T (p.Pro2846Ser)
c.8470C>T (p.Pro2824Ser)
c.8533C>T (p.Pro2845Ser)
c.8530C>T (p.Pro2844Ser)
c.8476C>T (p.Pro2826Ser)
c.8446C>T (p.Pro2816Ser)
c.8401C>T (p.Pro2801Ser)
c.7996C>T (p.Pro2666Ser)
c.7354C>T (p.Pro2452Ser)
c.4864C>T (p.Pro1622Ser)
 dbSNP
10g.71807549C>ACA377131360CDH23c.8342C>A (p.Pro2781His)
c.2275C>A (n.2275C>A)
c.1939C>A (n.1939C>A)
c.8357C>A (p.Pro2786His)
c.1622C>A (p.Pro541His)
n.1878C>A
c.8537C>A (p.Pro2846His)
c.8471C>A (p.Pro2824His)
c.8534C>A (p.Pro2845His)
c.8531C>A (p.Pro2844His)
c.8477C>A (p.Pro2826His)
c.8447C>A (p.Pro2816His)
c.8402C>A (p.Pro2801His)
c.7997C>A (p.Pro2666His)
c.7355C>A (p.Pro2452His)
c.4865C>A (p.Pro1622His)
10g.71807549C=CA1918886477CDH23c.8342C= (p.Pro2781=)
c.2275C= (n.2275C=)
c.1939C= (n.1939C=)
c.8357C= (p.Pro2786=)
c.1622C= (p.Pro541=)
n.1878C=
c.8537C= (p.Pro2846=)
c.8471C= (p.Pro2824=)
c.8534C= (p.Pro2845=)
c.8531C= (p.Pro2844=)
c.8477C= (p.Pro2826=)
c.8447C= (p.Pro2816=)
c.8402C= (p.Pro2801=)
c.7997C= (p.Pro2666=)
c.7355C= (p.Pro2452=)
c.4865C= (p.Pro1622=)
10g.71807549C>GCA377131361CDH23c.8342C>G (p.Pro2781Arg)
c.2275C>G (n.2275C>G)
c.1939C>G (n.1939C>G)
c.8357C>G (p.Pro2786Arg)
c.1622C>G (p.Pro541Arg)
n.1878C>G
c.8537C>G (p.Pro2846Arg)
c.8471C>G (p.Pro2824Arg)
c.8534C>G (p.Pro2845Arg)
c.8531C>G (p.Pro2844Arg)
c.8477C>G (p.Pro2826Arg)
c.8447C>G (p.Pro2816Arg)
c.8402C>G (p.Pro2801Arg)
c.7997C>G (p.Pro2666Arg)
c.7355C>G (p.Pro2452Arg)
c.4865C>G (p.Pro1622Arg)
 dbSNP
10g.71807549C>TCA377131362CDH23c.8342C>T (p.Pro2781Leu)
c.2275C>T (n.2275C>T)
c.1939C>T (n.1939C>T)
c.8357C>T (p.Pro2786Leu)
c.1622C>T (p.Pro541Leu)
n.1878C>T
c.8537C>T (p.Pro2846Leu)
c.8471C>T (p.Pro2824Leu)
c.8534C>T (p.Pro2845Leu)
c.8531C>T (p.Pro2844Leu)
c.8477C>T (p.Pro2826Leu)
c.8447C>T (p.Pro2816Leu)
c.8402C>T (p.Pro2801Leu)
c.7997C>T (p.Pro2666Leu)
c.7355C>T (p.Pro2452Leu)
c.4865C>T (p.Pro1622Leu)
10g.71807550C>ACA470282398CDH23c.8343C>A (p.Pro2781=)
c.2276C>A (n.2276C>A)
c.1940C>A (n.1940C>A)
c.8358C>A (p.Pro2786=)
c.1623C>A (p.Pro541=)
n.1879C>A
c.8538C>A (p.Pro2846=)
c.8472C>A (p.Pro2824=)
c.8535C>A (p.Pro2845=)
c.8532C>A (p.Pro2844=)
c.8478C>A (p.Pro2826=)
c.8448C>A (p.Pro2816=)
c.8403C>A (p.Pro2801=)
c.7998C>A (p.Pro2666=)
c.7356C>A (p.Pro2452=)
c.4866C>A (p.Pro1622=)
10g.71807550C=CA1918886479CDH23c.8343C= (p.Pro2781=)
c.2276C= (n.2276C=)
c.1940C= (n.1940C=)
c.8358C= (p.Pro2786=)
c.1623C= (p.Pro541=)
n.1879C=
c.8538C= (p.Pro2846=)
c.8472C= (p.Pro2824=)
c.8535C= (p.Pro2845=)
c.8532C= (p.Pro2844=)
c.8478C= (p.Pro2826=)
c.8448C= (p.Pro2816=)
c.8403C= (p.Pro2801=)
c.7998C= (p.Pro2666=)
c.7356C= (p.Pro2452=)
c.4866C= (p.Pro1622=)
10g.71807550C>GCA470282399CDH23c.8343C>G (p.Pro2781=)
c.2276C>G (n.2276C>G)
c.1940C>G (n.1940C>G)
c.8358C>G (p.Pro2786=)
c.1623C>G (p.Pro541=)
n.1879C>G
c.8538C>G (p.Pro2846=)
c.8472C>G (p.Pro2824=)
c.8535C>G (p.Pro2845=)
c.8532C>G (p.Pro2844=)
c.8478C>G (p.Pro2826=)
c.8448C>G (p.Pro2816=)
c.8403C>G (p.Pro2801=)
c.7998C>G (p.Pro2666=)
c.7356C>G (p.Pro2452=)
c.4866C>G (p.Pro1622=)
 dbSNP
10g.71807550C>TCA5546628CDH23c.8343C>T (p.Pro2781=)
c.2276C>T (n.2276C>T)
c.1940C>T (n.1940C>T)
c.8358C>T (p.Pro2786=)
c.1623C>T (p.Pro541=)
n.1879C>T
c.8538C>T (p.Pro2846=)
c.8472C>T (p.Pro2824=)
c.8535C>T (p.Pro2845=)
c.8532C>T (p.Pro2844=)
c.8478C>T (p.Pro2826=)
c.8448C>T (p.Pro2816=)
c.8403C>T (p.Pro2801=)
c.7998C>T (p.Pro2666=)
c.7356C>T (p.Pro2452=)
c.4866C>T (p.Pro1622=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807550_71807553dupCA470282397CDH23c.8343_8346dup (p.Gly2783ArgfsTer?)
c.2276_2279dup (n.2276_2279dup)
c.1940_1943dup (n.1940_1943dup)
c.8358_8361dup (p.Gly2788ArgfsTer?)
c.1623_1626dup (p.Gly543ArgfsTer?)
n.1879_1882dup
c.8538_8541dup (p.Gly2848ArgfsTer?)
c.8472_8475dup (p.Gly2826ArgfsTer?)
c.8535_8538dup (p.Gly2847ArgfsTer?)
c.8532_8535dup (p.Gly2846ArgfsTer?)
c.8478_8481dup (p.Gly2828ArgfsTer?)
c.8448_8451dup (p.Gly2818ArgfsTer?)
c.8403_8406dup (p.Gly2803ArgfsTer?)
c.7998_8001dup (p.Gly2668ArgfsTer?)
c.7356_7359dup (p.Gly2454ArgfsTer?)
c.4866_4869dup (p.Gly1624ArgfsTer?)
 ClinVar dbSNP gnomAD v4
10g.71807551G>ACA5546629CDH23c.8344G>A (p.Asp2782Asn)
c.2277G>A (n.2277G>A)
c.1941G>A (n.1941G>A)
c.8359G>A (p.Asp2787Asn)
c.1624G>A (p.Asp542Asn)
n.1880G>A
c.8539G>A (p.Asp2847Asn)
c.8473G>A (p.Asp2825Asn)
c.8536G>A (p.Asp2846Asn)
c.8533G>A (p.Asp2845Asn)
c.8479G>A (p.Asp2827Asn)
c.8449G>A (p.Asp2817Asn)
c.8404G>A (p.Asp2802Asn)
c.7999G>A (p.Asp2667Asn)
c.7357G>A (p.Asp2453Asn)
c.4867G>A (p.Asp1623Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807551G>CCA377131363CDH23c.8344G>C (p.Asp2782His)
c.2277G>C (n.2277G>C)
c.1941G>C (n.1941G>C)
c.8359G>C (p.Asp2787His)
c.1624G>C (p.Asp542His)
n.1880G>C
c.8539G>C (p.Asp2847His)
c.8473G>C (p.Asp2825His)
c.8536G>C (p.Asp2846His)
c.8533G>C (p.Asp2845His)
c.8479G>C (p.Asp2827His)
c.8449G>C (p.Asp2817His)
c.8404G>C (p.Asp2802His)
c.7999G>C (p.Asp2667His)
c.7357G>C (p.Asp2453His)
c.4867G>C (p.Asp1623His)
 ClinVar dbSNP gnomAD v4
10g.71807551G=CA1918886482CDH23c.8344G= (p.Asp2782=)
c.2277G= (n.2277G=)
c.1941G= (n.1941G=)
c.8359G= (p.Asp2787=)
c.1624G= (p.Asp542=)
n.1880G=
c.8539G= (p.Asp2847=)
c.8473G= (p.Asp2825=)
c.8536G= (p.Asp2846=)
c.8533G= (p.Asp2845=)
c.8479G= (p.Asp2827=)
c.8449G= (p.Asp2817=)
c.8404G= (p.Asp2802=)
c.7999G= (p.Asp2667=)
c.7357G= (p.Asp2453=)
c.4867G= (p.Asp1623=)
10g.71807551G>TCA377131364CDH23c.8344G>T (p.Asp2782Tyr)
c.2277G>T (n.2277G>T)
c.1941G>T (n.1941G>T)
c.8359G>T (p.Asp2787Tyr)
c.1624G>T (p.Asp542Tyr)
n.1880G>T
c.8539G>T (p.Asp2847Tyr)
c.8473G>T (p.Asp2825Tyr)
c.8536G>T (p.Asp2846Tyr)
c.8533G>T (p.Asp2845Tyr)
c.8479G>T (p.Asp2827Tyr)
c.8449G>T (p.Asp2817Tyr)
c.8404G>T (p.Asp2802Tyr)
c.7999G>T (p.Asp2667Tyr)
c.7357G>T (p.Asp2453Tyr)
c.4867G>T (p.Asp1623Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.71807552A>CCA377131365CDH23c.8345A>C (p.Asp2782Ala)
c.2278A>C (n.2278A>C)
c.1942A>C (n.1942A>C)
c.8360A>C (p.Asp2787Ala)
c.1625A>C (p.Asp542Ala)
n.1881A>C
c.8540A>C (p.Asp2847Ala)
c.8474A>C (p.Asp2825Ala)
c.8537A>C (p.Asp2846Ala)
c.8534A>C (p.Asp2845Ala)
c.8480A>C (p.Asp2827Ala)
c.8450A>C (p.Asp2817Ala)
c.8405A>C (p.Asp2802Ala)
c.8000A>C (p.Asp2667Ala)
c.7358A>C (p.Asp2453Ala)
c.4868A>C (p.Asp1623Ala)
10g.71807552A>GCA377131366CDH23c.8345A>G (p.Asp2782Gly)
c.2278A>G (n.2278A>G)
c.1942A>G (n.1942A>G)
c.8360A>G (p.Asp2787Gly)
c.1625A>G (p.Asp542Gly)
n.1881A>G
c.8540A>G (p.Asp2847Gly)
c.8474A>G (p.Asp2825Gly)
c.8537A>G (p.Asp2846Gly)
c.8534A>G (p.Asp2845Gly)
c.8480A>G (p.Asp2827Gly)
c.8450A>G (p.Asp2817Gly)
c.8405A>G (p.Asp2802Gly)
c.8000A>G (p.Asp2667Gly)
c.7358A>G (p.Asp2453Gly)
c.4868A>G (p.Asp1623Gly)
10g.71807552A>TCA377131367CDH23c.8345A>T (p.Asp2782Val)
c.2278A>T (n.2278A>T)
c.1942A>T (n.1942A>T)
c.8360A>T (p.Asp2787Val)
c.1625A>T (p.Asp542Val)
n.1881A>T
c.8540A>T (p.Asp2847Val)
c.8474A>T (p.Asp2825Val)
c.8537A>T (p.Asp2846Val)
c.8534A>T (p.Asp2845Val)
c.8480A>T (p.Asp2827Val)
c.8450A>T (p.Asp2817Val)
c.8405A>T (p.Asp2802Val)
c.8000A>T (p.Asp2667Val)
c.7358A>T (p.Asp2453Val)
c.4868A>T (p.Asp1623Val)
10g.71807553T>ACA5546630CDH23c.8346T>A (p.Asp2782Glu)
c.2279T>A (n.2279T>A)
c.1943T>A (n.1943T>A)
c.8361T>A (p.Asp2787Glu)
c.1626T>A (p.Asp542Glu)
n.1882T>A
c.8541T>A (p.Asp2847Glu)
c.8475T>A (p.Asp2825Glu)
c.8538T>A (p.Asp2846Glu)
c.8535T>A (p.Asp2845Glu)
c.8481T>A (p.Asp2827Glu)
c.8451T>A (p.Asp2817Glu)
c.8406T>A (p.Asp2802Glu)
c.8001T>A (p.Asp2667Glu)
c.7359T>A (p.Asp2453Glu)
c.4869T>A (p.Asp1623Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807553T>CCA470282400CDH23c.8346T>C (p.Asp2782=)
c.2279T>C (n.2279T>C)
c.1943T>C (n.1943T>C)
c.8361T>C (p.Asp2787=)
c.1626T>C (p.Asp542=)
n.1882T>C
c.8541T>C (p.Asp2847=)
c.8475T>C (p.Asp2825=)
c.8538T>C (p.Asp2846=)
c.8535T>C (p.Asp2845=)
c.8481T>C (p.Asp2827=)
c.8451T>C (p.Asp2817=)
c.8406T>C (p.Asp2802=)
c.8001T>C (p.Asp2667=)
c.7359T>C (p.Asp2453=)
c.4869T>C (p.Asp1623=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71807553T>GCA377131368CDH23c.8346T>G (p.Asp2782Glu)
c.2279T>G (n.2279T>G)
c.1943T>G (n.1943T>G)
c.8361T>G (p.Asp2787Glu)
c.1626T>G (p.Asp542Glu)
n.1882T>G
c.8541T>G (p.Asp2847Glu)
c.8475T>G (p.Asp2825Glu)
c.8538T>G (p.Asp2846Glu)
c.8535T>G (p.Asp2845Glu)
c.8481T>G (p.Asp2827Glu)
c.8451T>G (p.Asp2817Glu)
c.8406T>G (p.Asp2802Glu)
c.8001T>G (p.Asp2667Glu)
c.7359T>G (p.Asp2453Glu)
c.4869T>G (p.Asp1623Glu)
10g.71807553T=CA1918886486CDH23c.8346T= (p.Asp2782=)
c.2279T= (n.2279T=)
c.1943T= (n.1943T=)
c.8361T= (p.Asp2787=)
c.1626T= (p.Asp542=)
n.1882T=
c.8541T= (p.Asp2847=)
c.8475T= (p.Asp2825=)
c.8538T= (p.Asp2846=)
c.8535T= (p.Asp2845=)
c.8481T= (p.Asp2827=)
c.8451T= (p.Asp2817=)
c.8406T= (p.Asp2802=)
c.8001T= (p.Asp2667=)
c.7359T= (p.Asp2453=)
c.4869T= (p.Asp1623=)
10g.71807554G>ACA377131369CDH23c.8347G>A (p.Gly2783Arg)
c.2280G>A (n.2280G>A)
c.1944G>A (n.1944G>A)
c.8362G>A (p.Gly2788Arg)
c.1627G>A (p.Gly543Arg)
n.1883G>A
c.8542G>A (p.Gly2848Arg)
c.8476G>A (p.Gly2826Arg)
c.8539G>A (p.Gly2847Arg)
c.8536G>A (p.Gly2846Arg)
c.8482G>A (p.Gly2828Arg)
c.8452G>A (p.Gly2818Arg)
c.8407G>A (p.Gly2803Arg)
c.8002G>A (p.Gly2668Arg)
c.7360G>A (p.Gly2454Arg)
c.4870G>A (p.Gly1624Arg)
10g.71807554G>CCA377131370CDH23c.8347G>C (p.Gly2783Arg)
c.2280G>C (n.2280G>C)
c.1944G>C (n.1944G>C)
c.8362G>C (p.Gly2788Arg)
c.1627G>C (p.Gly543Arg)
n.1883G>C
c.8542G>C (p.Gly2848Arg)
c.8476G>C (p.Gly2826Arg)
c.8539G>C (p.Gly2847Arg)
c.8536G>C (p.Gly2846Arg)
c.8482G>C (p.Gly2828Arg)
c.8452G>C (p.Gly2818Arg)
c.8407G>C (p.Gly2803Arg)
c.8002G>C (p.Gly2668Arg)
c.7360G>C (p.Gly2454Arg)
c.4870G>C (p.Gly1624Arg)
10g.71807554G>TCA377131371CDH23c.8347G>T (p.Gly2783Trp)
c.2280G>T (n.2280G>T)
c.1944G>T (n.1944G>T)
c.8362G>T (p.Gly2788Trp)
c.1627G>T (p.Gly543Trp)
n.1883G>T
c.8542G>T (p.Gly2848Trp)
c.8476G>T (p.Gly2826Trp)
c.8539G>T (p.Gly2847Trp)
c.8536G>T (p.Gly2846Trp)
c.8482G>T (p.Gly2828Trp)
c.8452G>T (p.Gly2818Trp)
c.8407G>T (p.Gly2803Trp)
c.8002G>T (p.Gly2668Trp)
c.7360G>T (p.Gly2454Trp)
c.4870G>T (p.Gly1624Trp)
10g.71807555G>ACA377131372CDH23c.8348G>A (p.Gly2783Glu)
c.2281G>A (n.2281G>A)
c.1945G>A (n.1945G>A)
c.8363G>A (p.Gly2788Glu)
c.1628G>A (p.Gly543Glu)
n.1884G>A
c.8543G>A (p.Gly2848Glu)
c.8477G>A (p.Gly2826Glu)
c.8540G>A (p.Gly2847Glu)
c.8537G>A (p.Gly2846Glu)
c.8483G>A (p.Gly2828Glu)
c.8453G>A (p.Gly2818Glu)
c.8408G>A (p.Gly2803Glu)
c.8003G>A (p.Gly2668Glu)
c.7361G>A (p.Gly2454Glu)
c.4871G>A (p.Gly1624Glu)
 COSMIC
10g.71807555G>CCA377131373CDH23c.8348G>C (p.Gly2783Ala)
c.2281G>C (n.2281G>C)
c.1945G>C (n.1945G>C)
c.8363G>C (p.Gly2788Ala)
c.1628G>C (p.Gly543Ala)
n.1884G>C
c.8543G>C (p.Gly2848Ala)
c.8477G>C (p.Gly2826Ala)
c.8540G>C (p.Gly2847Ala)
c.8537G>C (p.Gly2846Ala)
c.8483G>C (p.Gly2828Ala)
c.8453G>C (p.Gly2818Ala)
c.8408G>C (p.Gly2803Ala)
c.8003G>C (p.Gly2668Ala)
c.7361G>C (p.Gly2454Ala)
c.4871G>C (p.Gly1624Ala)
10g.71807555G>TCA377131374CDH23c.8348G>T (p.Gly2783Val)
c.2281G>T (n.2281G>T)
c.1945G>T (n.1945G>T)
c.8363G>T (p.Gly2788Val)
c.1628G>T (p.Gly543Val)
n.1884G>T
c.8543G>T (p.Gly2848Val)
c.8477G>T (p.Gly2826Val)
c.8540G>T (p.Gly2847Val)
c.8537G>T (p.Gly2846Val)
c.8483G>T (p.Gly2828Val)
c.8453G>T (p.Gly2818Val)
c.8408G>T (p.Gly2803Val)
c.8003G>T (p.Gly2668Val)
c.7361G>T (p.Gly2454Val)
c.4871G>T (p.Gly1624Val)
10g.71807556G>ACA470282401CDH23c.8349G>A (p.Gly2783=)
c.2282G>A (n.2282G>A)
c.1946G>A (n.1946G>A)
c.8364G>A (p.Gly2788=)
c.1629G>A (p.Gly543=)
n.1885G>A
c.8544G>A (p.Gly2848=)
c.8478G>A (p.Gly2826=)
c.8541G>A (p.Gly2847=)
c.8538G>A (p.Gly2846=)
c.8484G>A (p.Gly2828=)
c.8454G>A (p.Gly2818=)
c.8409G>A (p.Gly2803=)
c.8004G>A (p.Gly2668=)
c.7362G>A (p.Gly2454=)
c.4872G>A (p.Gly1624=)
 dbSNP
10g.71807556G>CCA470282402CDH23c.8349G>C (p.Gly2783=)
c.2282G>C (n.2282G>C)
c.1946G>C (n.1946G>C)
c.8364G>C (p.Gly2788=)
c.1629G>C (p.Gly543=)
n.1885G>C
c.8544G>C (p.Gly2848=)
c.8478G>C (p.Gly2826=)
c.8541G>C (p.Gly2847=)
c.8538G>C (p.Gly2846=)
c.8484G>C (p.Gly2828=)
c.8454G>C (p.Gly2818=)
c.8409G>C (p.Gly2803=)
c.8004G>C (p.Gly2668=)
c.7362G>C (p.Gly2454=)
c.4872G>C (p.Gly1624=)
 dbSNP
10g.71807556G>TCA470282403CDH23c.8349G>T (p.Gly2783=)
c.2282G>T (n.2282G>T)
c.1946G>T (n.1946G>T)
c.8364G>T (p.Gly2788=)
c.1629G>T (p.Gly543=)
n.1885G>T
c.8544G>T (p.Gly2848=)
c.8478G>T (p.Gly2826=)
c.8541G>T (p.Gly2847=)
c.8538G>T (p.Gly2846=)
c.8484G>T (p.Gly2828=)
c.8454G>T (p.Gly2818=)
c.8409G>T (p.Gly2803=)
c.8004G>T (p.Gly2668=)
c.7362G>T (p.Gly2454=)
c.4872G>T (p.Gly1624=)
 gnomAD v4
10g.71807557T>ACA377131375CDH23c.8350T>A (p.Cys2784Ser)
c.2283T>A (n.2283T>A)
c.1947T>A (n.1947T>A)
c.8365T>A (p.Cys2789Ser)
c.1630T>A (p.Cys544Ser)
n.1886T>A
c.8545T>A (p.Cys2849Ser)
c.8479T>A (p.Cys2827Ser)
c.8542T>A (p.Cys2848Ser)
c.8539T>A (p.Cys2847Ser)
c.8485T>A (p.Cys2829Ser)
c.8455T>A (p.Cys2819Ser)
c.8410T>A (p.Cys2804Ser)
c.8005T>A (p.Cys2669Ser)
c.7363T>A (p.Cys2455Ser)
c.4873T>A (p.Cys1625Ser)
10g.71807557T>CCA377131376CDH23c.8350T>C (p.Cys2784Arg)
c.2283T>C (n.2283T>C)
c.1947T>C (n.1947T>C)
c.8365T>C (p.Cys2789Arg)
c.1630T>C (p.Cys544Arg)
n.1886T>C
c.8545T>C (p.Cys2849Arg)
c.8479T>C (p.Cys2827Arg)
c.8542T>C (p.Cys2848Arg)
c.8539T>C (p.Cys2847Arg)
c.8485T>C (p.Cys2829Arg)
c.8455T>C (p.Cys2819Arg)
c.8410T>C (p.Cys2804Arg)
c.8005T>C (p.Cys2669Arg)
c.7363T>C (p.Cys2455Arg)
c.4873T>C (p.Cys1625Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.71807557T>GCA377131377CDH23c.8350T>G (p.Cys2784Gly)
c.2283T>G (n.2283T>G)
c.1947T>G (n.1947T>G)
c.8365T>G (p.Cys2789Gly)
c.1630T>G (p.Cys544Gly)
n.1886T>G
c.8545T>G (p.Cys2849Gly)
c.8479T>G (p.Cys2827Gly)
c.8542T>G (p.Cys2848Gly)
c.8539T>G (p.Cys2847Gly)
c.8485T>G (p.Cys2829Gly)
c.8455T>G (p.Cys2819Gly)
c.8410T>G (p.Cys2804Gly)
c.8005T>G (p.Cys2669Gly)
c.7363T>G (p.Cys2455Gly)
c.4873T>G (p.Cys1625Gly)
 dbSNP
10g.71807557T=CA1918886487CDH23c.8350T= (p.Cys2784=)
c.2283T= (n.2283T=)
c.1947T= (n.1947T=)
c.8365T= (p.Cys2789=)
c.1630T= (p.Cys544=)
n.1886T=
c.8545T= (p.Cys2849=)
c.8479T= (p.Cys2827=)
c.8542T= (p.Cys2848=)
c.8539T= (p.Cys2847=)
c.8485T= (p.Cys2829=)
c.8455T= (p.Cys2819=)
c.8410T= (p.Cys2804=)
c.8005T= (p.Cys2669=)
c.7363T= (p.Cys2455=)
c.4873T= (p.Cys1625=)
10g.71807558G>ACA377131378CDH23c.8351G>A (p.Cys2784Tyr)
c.2284G>A (n.2284G>A)
c.1948G>A (n.1948G>A)
c.8366G>A (p.Cys2789Tyr)
c.1631G>A (p.Cys544Tyr)
n.1887G>A
c.8546G>A (p.Cys2849Tyr)
c.8480G>A (p.Cys2827Tyr)
c.8543G>A (p.Cys2848Tyr)
c.8540G>A (p.Cys2847Tyr)
c.8486G>A (p.Cys2829Tyr)
c.8456G>A (p.Cys2819Tyr)
c.8411G>A (p.Cys2804Tyr)
c.8006G>A (p.Cys2669Tyr)
c.7364G>A (p.Cys2455Tyr)
c.4874G>A (p.Cys1625Tyr)
 dbSNP
10g.71807558G>CCA377131379CDH23c.8351G>C (p.Cys2784Ser)
c.2284G>C (n.2284G>C)
c.1948G>C (n.1948G>C)
c.8366G>C (p.Cys2789Ser)
c.1631G>C (p.Cys544Ser)
n.1887G>C
c.8546G>C (p.Cys2849Ser)
c.8480G>C (p.Cys2827Ser)
c.8543G>C (p.Cys2848Ser)
c.8540G>C (p.Cys2847Ser)
c.8486G>C (p.Cys2829Ser)
c.8456G>C (p.Cys2819Ser)
c.8411G>C (p.Cys2804Ser)
c.8006G>C (p.Cys2669Ser)
c.7364G>C (p.Cys2455Ser)
c.4874G>C (p.Cys1625Ser)
 dbSNP
10g.71807558G=CA1918886489CDH23c.8351G= (p.Cys2784=)
c.2284G= (n.2284G=)
c.1948G= (n.1948G=)
c.8366G= (p.Cys2789=)
c.1631G= (p.Cys544=)
n.1887G=
c.8546G= (p.Cys2849=)
c.8480G= (p.Cys2827=)
c.8543G= (p.Cys2848=)
c.8540G= (p.Cys2847=)
c.8486G= (p.Cys2829=)
c.8456G= (p.Cys2819=)
c.8411G= (p.Cys2804=)
c.8006G= (p.Cys2669=)
c.7364G= (p.Cys2455=)
c.4874G= (p.Cys1625=)
10g.71807558G>TCA377131380CDH23c.8351G>T (p.Cys2784Phe)
c.2284G>T (n.2284G>T)
c.1948G>T (n.1948G>T)
c.8366G>T (p.Cys2789Phe)
c.1631G>T (p.Cys544Phe)
n.1887G>T
c.8546G>T (p.Cys2849Phe)
c.8480G>T (p.Cys2827Phe)
c.8543G>T (p.Cys2848Phe)
c.8540G>T (p.Cys2847Phe)
c.8486G>T (p.Cys2829Phe)
c.8456G>T (p.Cys2819Phe)
c.8411G>T (p.Cys2804Phe)
c.8006G>T (p.Cys2669Phe)
c.7364G>T (p.Cys2455Phe)
c.4874G>T (p.Cys1625Phe)
10g.71807558_71807559delinsGTCA1918886491CDH23c.8351_8352delinsGT (p.Cys2784=)
c.2284_2285delinsGT (n.2284_2285delinsGT)
c.1948_1949delinsGT (n.1948_1949delinsGT)
c.8366_8367delinsGT (p.Cys2789=)
c.1631_1632delinsGT (p.Cys544=)
n.1887_1888delinsGT
c.8546_8547delinsGT (p.Cys2849=)
c.8480_8481delinsGT (p.Cys2827=)
c.8543_8544delinsGT (p.Cys2848=)
c.8540_8541delinsGT (p.Cys2847=)
c.8486_8487delinsGT (p.Cys2829=)
c.8456_8457delinsGT (p.Cys2819=)
c.8411_8412delinsGT (p.Cys2804=)
c.8006_8007delinsGT (p.Cys2669=)
c.7364_7365delinsGT (p.Cys2455=)
c.4874_4875delinsGT (p.Cys1625=)
10g.71807558_71807559insCGATCA658823159CDH23c.8351_8352insCGAT (p.Leu2785AspfsTer?)
c.2284_2285insCGAT (n.2284_2285insCGAT)
c.1948_1949insCGAT (n.1948_1949insCGAT)
c.8366_8367insCGAT (p.Leu2790AspfsTer?)
c.1631_1632insCGAT (p.Leu545AspfsTer?)
n.1887_1888insCGAT
c.8546_8547insCGAT (p.Leu2850AspfsTer?)
c.8480_8481insCGAT (p.Leu2828AspfsTer?)
c.8543_8544insCGAT (p.Leu2849AspfsTer?)
c.8540_8541insCGAT (p.Leu2848AspfsTer?)
c.8486_8487insCGAT (p.Leu2830AspfsTer?)
c.8456_8457insCGAT (p.Leu2820AspfsTer?)
c.8411_8412insCGAT (p.Leu2805AspfsTer?)
c.8006_8007insCGAT (p.Leu2670AspfsTer?)
c.7364_7365insCGAT (p.Leu2456AspfsTer?)
c.4874_4875insCGAT (p.Leu1626AspfsTer?)
 ClinVar dbSNP
10g.71807559delCA594706197CDH23c.8352del (p.Leu2785CysfsTer?)
c.2285del (n.2285del)
c.1949del (n.1949del)
c.8367del (p.Leu2790CysfsTer?)
c.1632del (p.Leu545CysfsTer?)
n.1888del
c.8547del (p.Leu2850CysfsTer?)
c.8481del (p.Leu2828CysfsTer?)
c.8544del (p.Leu2849CysfsTer?)
c.8541del (p.Leu2848CysfsTer?)
c.8487del (p.Leu2830CysfsTer?)
c.8457del (p.Leu2820CysfsTer?)
c.8412del (p.Leu2805CysfsTer?)
c.8007del (p.Leu2670CysfsTer?)
c.7365del (p.Leu2456CysfsTer?)
c.4875del (p.Leu1626CysfsTer?)
 ClinVar dbSNP gnomAD v2
10g.71807559T>ACA377131382CDH23c.8352T>A (p.Cys2784Ter)
c.2285T>A (n.2285T>A)
c.1949T>A (n.1949T>A)
c.8367T>A (p.Cys2789Ter)
c.1632T>A (p.Cys544Ter)
n.1888T>A
c.8547T>A (p.Cys2849Ter)
c.8481T>A (p.Cys2827Ter)
c.8544T>A (p.Cys2848Ter)
c.8541T>A (p.Cys2847Ter)
c.8487T>A (p.Cys2829Ter)
c.8457T>A (p.Cys2819Ter)
c.8412T>A (p.Cys2804Ter)
c.8007T>A (p.Cys2669Ter)
c.7365T>A (p.Cys2455Ter)
c.4875T>A (p.Cys1625Ter)
10g.71807559T>CCA470282404CDH23c.8352T>C (p.Cys2784=)
c.2285T>C (n.2285T>C)
c.1949T>C (n.1949T>C)
c.8367T>C (p.Cys2789=)
c.1632T>C (p.Cys544=)
n.1888T>C
c.8547T>C (p.Cys2849=)
c.8481T>C (p.Cys2827=)
c.8544T>C (p.Cys2848=)
c.8541T>C (p.Cys2847=)
c.8487T>C (p.Cys2829=)
c.8457T>C (p.Cys2819=)
c.8412T>C (p.Cys2804=)
c.8007T>C (p.Cys2669=)
c.7365T>C (p.Cys2455=)
c.4875T>C (p.Cys1625=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807559T>GCA377131381CDH23c.8352T>G (p.Cys2784Trp)
c.2285T>G (n.2285T>G)
c.1949T>G (n.1949T>G)
c.8367T>G (p.Cys2789Trp)
c.1632T>G (p.Cys544Trp)
n.1888T>G
c.8547T>G (p.Cys2849Trp)
c.8481T>G (p.Cys2827Trp)
c.8544T>G (p.Cys2848Trp)
c.8541T>G (p.Cys2847Trp)
c.8487T>G (p.Cys2829Trp)
c.8457T>G (p.Cys2819Trp)
c.8412T>G (p.Cys2804Trp)
c.8007T>G (p.Cys2669Trp)
c.7365T>G (p.Cys2455Trp)
c.4875T>G (p.Cys1625Trp)
10g.71807559T=CA1918886493CDH23c.8352T= (p.Cys2784=)
c.2285T= (n.2285T=)
c.1949T= (n.1949T=)
c.8367T= (p.Cys2789=)
c.1632T= (p.Cys544=)
n.1888T=
c.8547T= (p.Cys2849=)
c.8481T= (p.Cys2827=)
c.8544T= (p.Cys2848=)
c.8541T= (p.Cys2847=)
c.8487T= (p.Cys2829=)
c.8457T= (p.Cys2819=)
c.8412T= (p.Cys2804=)
c.8007T= (p.Cys2669=)
c.7365T= (p.Cys2455=)
c.4875T= (p.Cys1625=)
10g.71807560C>ACA377131383CDH23c.8353C>A (p.Leu2785Met)
c.2286C>A (n.2286C>A)
c.1950C>A (n.1950C>A)
c.8368C>A (p.Leu2790Met)
c.1633C>A (p.Leu545Met)
n.1889C>A
c.8548C>A (p.Leu2850Met)
c.8482C>A (p.Leu2828Met)
c.8545C>A (p.Leu2849Met)
c.8542C>A (p.Leu2848Met)
c.8488C>A (p.Leu2830Met)
c.8458C>A (p.Leu2820Met)
c.8413C>A (p.Leu2805Met)
c.8008C>A (p.Leu2670Met)
c.7366C>A (p.Leu2456Met)
c.4876C>A (p.Leu1626Met)
10g.71807560C>GCA377131384CDH23c.8353C>G (p.Leu2785Val)
c.2286C>G (n.2286C>G)
c.1950C>G (n.1950C>G)
c.8368C>G (p.Leu2790Val)
c.1633C>G (p.Leu545Val)
n.1889C>G
c.8548C>G (p.Leu2850Val)
c.8482C>G (p.Leu2828Val)
c.8545C>G (p.Leu2849Val)
c.8542C>G (p.Leu2848Val)
c.8488C>G (p.Leu2830Val)
c.8458C>G (p.Leu2820Val)
c.8413C>G (p.Leu2805Val)
c.8008C>G (p.Leu2670Val)
c.7366C>G (p.Leu2456Val)
c.4876C>G (p.Leu1626Val)
10g.71807560C>TCA470282405CDH23c.8353C>T (p.Leu2785=)
c.2286C>T (n.2286C>T)
c.1950C>T (n.1950C>T)
c.8368C>T (p.Leu2790=)
c.1633C>T (p.Leu545=)
n.1889C>T
c.8548C>T (p.Leu2850=)
c.8482C>T (p.Leu2828=)
c.8545C>T (p.Leu2849=)
c.8542C>T (p.Leu2848=)
c.8488C>T (p.Leu2830=)
c.8458C>T (p.Leu2820=)
c.8413C>T (p.Leu2805=)
c.8008C>T (p.Leu2670=)
c.7366C>T (p.Leu2456=)
c.4876C>T (p.Leu1626=)
 ClinVar
10g.71807564_71807572delCA2722291081CDH23c.8357_8365del (p.Leu2786_Leu2788del)
c.2290_2298del (n.2290_2298del)
c.1954_1962del (n.1954_1962del)
c.8372_8380del (p.Leu2791_Leu2793del)
c.1637_1645del (p.Leu546_Leu548del)
n.1893_1901del
c.8552_8560del (p.Leu2851_Leu2853del)
c.8486_8494del (p.Leu2829_Leu2831del)
c.8549_8557del (p.Leu2850_Leu2852del)
c.8546_8554del (p.Leu2849_Leu2851del)
c.8492_8500del (p.Leu2831_Leu2833del)
c.8462_8470del (p.Leu2821_Leu2823del)
c.8417_8425del (p.Leu2806_Leu2808del)
c.8012_8020del (p.Leu2671_Leu2673del)
c.7370_7378del (p.Leu2457_Leu2459del)
c.4880_4888del (p.Leu1627_Leu1629del)
 dbSNP
10g.71807561T>ACA377131385CDH23c.8354T>A (p.Leu2785Gln)
c.2287T>A (n.2287T>A)
c.1951T>A (n.1951T>A)
c.8369T>A (p.Leu2790Gln)
c.1634T>A (p.Leu545Gln)
n.1890T>A
c.8549T>A (p.Leu2850Gln)
c.8483T>A (p.Leu2828Gln)
c.8546T>A (p.Leu2849Gln)
c.8543T>A (p.Leu2848Gln)
c.8489T>A (p.Leu2830Gln)
c.8459T>A (p.Leu2820Gln)
c.8414T>A (p.Leu2805Gln)
c.8009T>A (p.Leu2670Gln)
c.7367T>A (p.Leu2456Gln)
c.4877T>A (p.Leu1626Gln)
10g.71807561T>CCA377131386CDH23c.8354T>C (p.Leu2785Pro)
c.2287T>C (n.2287T>C)
c.1951T>C (n.1951T>C)
c.8369T>C (p.Leu2790Pro)
c.1634T>C (p.Leu545Pro)
n.1890T>C
c.8549T>C (p.Leu2850Pro)
c.8483T>C (p.Leu2828Pro)
c.8546T>C (p.Leu2849Pro)
c.8543T>C (p.Leu2848Pro)
c.8489T>C (p.Leu2830Pro)
c.8459T>C (p.Leu2820Pro)
c.8414T>C (p.Leu2805Pro)
c.8009T>C (p.Leu2670Pro)
c.7367T>C (p.Leu2456Pro)
c.4877T>C (p.Leu1626Pro)
10g.71807561T>GCA377131387CDH23c.8354T>G (p.Leu2785Arg)
c.2287T>G (n.2287T>G)
c.1951T>G (n.1951T>G)
c.8369T>G (p.Leu2790Arg)
c.1634T>G (p.Leu545Arg)
n.1890T>G
c.8549T>G (p.Leu2850Arg)
c.8483T>G (p.Leu2828Arg)
c.8546T>G (p.Leu2849Arg)
c.8543T>G (p.Leu2848Arg)
c.8489T>G (p.Leu2830Arg)
c.8459T>G (p.Leu2820Arg)
c.8414T>G (p.Leu2805Arg)
c.8009T>G (p.Leu2670Arg)
c.7367T>G (p.Leu2456Arg)
c.4877T>G (p.Leu1626Arg)
10g.71807562G>ACA470282406CDH23c.8355G>A (p.Leu2785=)
c.2288G>A (n.2288G>A)
c.1952G>A (n.1952G>A)
c.8370G>A (p.Leu2790=)
c.1635G>A (p.Leu545=)
n.1891G>A
c.8550G>A (p.Leu2850=)
c.8484G>A (p.Leu2828=)
c.8547G>A (p.Leu2849=)
c.8544G>A (p.Leu2848=)
c.8490G>A (p.Leu2830=)
c.8460G>A (p.Leu2820=)
c.8415G>A (p.Leu2805=)
c.8010G>A (p.Leu2670=)
c.7368G>A (p.Leu2456=)
c.4878G>A (p.Leu1626=)
 dbSNP
10g.71807562G>CCA470282407CDH23c.8355G>C (p.Leu2785=)
c.2288G>C (n.2288G>C)
c.1952G>C (n.1952G>C)
c.8370G>C (p.Leu2790=)
c.1635G>C (p.Leu545=)
n.1891G>C
c.8550G>C (p.Leu2850=)
c.8484G>C (p.Leu2828=)
c.8547G>C (p.Leu2849=)
c.8544G>C (p.Leu2848=)
c.8490G>C (p.Leu2830=)
c.8460G>C (p.Leu2820=)
c.8415G>C (p.Leu2805=)
c.8010G>C (p.Leu2670=)
c.7368G>C (p.Leu2456=)
c.4878G>C (p.Leu1626=)
10g.71807562G>TCA470282408CDH23c.8355G>T (p.Leu2785=)
c.2288G>T (n.2288G>T)
c.1952G>T (n.1952G>T)
c.8370G>T (p.Leu2790=)
c.1635G>T (p.Leu545=)
n.1891G>T
c.8550G>T (p.Leu2850=)
c.8484G>T (p.Leu2828=)
c.8547G>T (p.Leu2849=)
c.8544G>T (p.Leu2848=)
c.8490G>T (p.Leu2830=)
c.8460G>T (p.Leu2820=)
c.8415G>T (p.Leu2805=)
c.8010G>T (p.Leu2670=)
c.7368G>T (p.Leu2456=)
c.4878G>T (p.Leu1626=)
10g.71807563C>ACA377131388CDH23c.8356C>A (p.Leu2786Met)
c.2289C>A (n.2289C>A)
c.1953C>A (n.1953C>A)
c.8371C>A (p.Leu2791Met)
c.1636C>A (p.Leu546Met)
n.1892C>A
c.8551C>A (p.Leu2851Met)
c.8485C>A (p.Leu2829Met)
c.8548C>A (p.Leu2850Met)
c.8545C>A (p.Leu2849Met)
c.8491C>A (p.Leu2831Met)
c.8461C>A (p.Leu2821Met)
c.8416C>A (p.Leu2806Met)
c.8011C>A (p.Leu2671Met)
c.7369C>A (p.Leu2457Met)
c.4879C>A (p.Leu1627Met)
10g.71807563C>GCA377131389CDH23c.8356C>G (p.Leu2786Val)
c.2289C>G (n.2289C>G)
c.1953C>G (n.1953C>G)
c.8371C>G (p.Leu2791Val)
c.1636C>G (p.Leu546Val)
n.1892C>G
c.8551C>G (p.Leu2851Val)
c.8485C>G (p.Leu2829Val)
c.8548C>G (p.Leu2850Val)
c.8545C>G (p.Leu2849Val)
c.8491C>G (p.Leu2831Val)
c.8461C>G (p.Leu2821Val)
c.8416C>G (p.Leu2806Val)
c.8011C>G (p.Leu2671Val)
c.7369C>G (p.Leu2457Val)
c.4879C>G (p.Leu1627Val)
 dbSNP
10g.71807563C>TCA470282409CDH23c.8356C>T (p.Leu2786=)
c.2289C>T (n.2289C>T)
c.1953C>T (n.1953C>T)
c.8371C>T (p.Leu2791=)
c.1636C>T (p.Leu546=)
n.1892C>T
c.8551C>T (p.Leu2851=)
c.8485C>T (p.Leu2829=)
c.8548C>T (p.Leu2850=)
c.8545C>T (p.Leu2849=)
c.8491C>T (p.Leu2831=)
c.8461C>T (p.Leu2821=)
c.8416C>T (p.Leu2806=)
c.8011C>T (p.Leu2671=)
c.7369C>T (p.Leu2457=)
c.4879C>T (p.Leu1627=)
 dbSNP
10g.71807564T>ACA377131390CDH23c.8357T>A (p.Leu2786Gln)
c.2290T>A (n.2290T>A)
c.1954T>A (n.1954T>A)
c.8372T>A (p.Leu2791Gln)
c.1637T>A (p.Leu546Gln)
n.1893T>A
c.8552T>A (p.Leu2851Gln)
c.8486T>A (p.Leu2829Gln)
c.8549T>A (p.Leu2850Gln)
c.8546T>A (p.Leu2849Gln)
c.8492T>A (p.Leu2831Gln)
c.8462T>A (p.Leu2821Gln)
c.8417T>A (p.Leu2806Gln)
c.8012T>A (p.Leu2671Gln)
c.7370T>A (p.Leu2457Gln)
c.4880T>A (p.Leu1627Gln)
10g.71807564T>CCA377131391CDH23c.8357T>C (p.Leu2786Pro)
c.2290T>C (n.2290T>C)
c.1954T>C (n.1954T>C)
c.8372T>C (p.Leu2791Pro)
c.1637T>C (p.Leu546Pro)
n.1893T>C
c.8552T>C (p.Leu2851Pro)
c.8486T>C (p.Leu2829Pro)
c.8549T>C (p.Leu2850Pro)
c.8546T>C (p.Leu2849Pro)
c.8492T>C (p.Leu2831Pro)
c.8462T>C (p.Leu2821Pro)
c.8417T>C (p.Leu2806Pro)
c.8012T>C (p.Leu2671Pro)
c.7370T>C (p.Leu2457Pro)
c.4880T>C (p.Leu1627Pro)
10g.71807564T>GCA377131392CDH23c.8357T>G (p.Leu2786Arg)
c.2290T>G (n.2290T>G)
c.1954T>G (n.1954T>G)
c.8372T>G (p.Leu2791Arg)
c.1637T>G (p.Leu546Arg)
n.1893T>G
c.8552T>G (p.Leu2851Arg)
c.8486T>G (p.Leu2829Arg)
c.8549T>G (p.Leu2850Arg)
c.8546T>G (p.Leu2849Arg)
c.8492T>G (p.Leu2831Arg)
c.8462T>G (p.Leu2821Arg)
c.8417T>G (p.Leu2806Arg)
c.8012T>G (p.Leu2671Arg)
c.7370T>G (p.Leu2457Arg)
c.4880T>G (p.Leu1627Arg)
10g.71807565G>ACA470282410CDH23c.8358G>A (p.Leu2786=)
c.2291G>A (n.2291G>A)
c.1955G>A (n.1955G>A)
c.8373G>A (p.Leu2791=)
c.1638G>A (p.Leu546=)
n.1894G>A
c.8553G>A (p.Leu2851=)
c.8487G>A (p.Leu2829=)
c.8550G>A (p.Leu2850=)
c.8547G>A (p.Leu2849=)
c.8493G>A (p.Leu2831=)
c.8463G>A (p.Leu2821=)
c.8418G>A (p.Leu2806=)
c.8013G>A (p.Leu2671=)
c.7371G>A (p.Leu2457=)
c.4881G>A (p.Leu1627=)
10g.71807565G>CCA470282412CDH23c.8358G>C (p.Leu2786=)
c.2291G>C (n.2291G>C)
c.1955G>C (n.1955G>C)
c.8373G>C (p.Leu2791=)
c.1638G>C (p.Leu546=)
n.1894G>C
c.8553G>C (p.Leu2851=)
c.8487G>C (p.Leu2829=)
c.8550G>C (p.Leu2850=)
c.8547G>C (p.Leu2849=)
c.8493G>C (p.Leu2831=)
c.8463G>C (p.Leu2821=)
c.8418G>C (p.Leu2806=)
c.8013G>C (p.Leu2671=)
c.7371G>C (p.Leu2457=)
c.4881G>C (p.Leu1627=)
10g.71807565G>TCA470282411CDH23c.8358G>T (p.Leu2786=)
c.2291G>T (n.2291G>T)
c.1955G>T (n.1955G>T)
c.8373G>T (p.Leu2791=)
c.1638G>T (p.Leu546=)
n.1894G>T
c.8553G>T (p.Leu2851=)
c.8487G>T (p.Leu2829=)
c.8550G>T (p.Leu2850=)
c.8547G>T (p.Leu2849=)
c.8493G>T (p.Leu2831=)
c.8463G>T (p.Leu2821=)
c.8418G>T (p.Leu2806=)
c.8013G>T (p.Leu2671=)
c.7371G>T (p.Leu2457=)
c.4881G>T (p.Leu1627=)
10g.71807566G>ACA377131393CDH23c.8359G>A (p.Val2787Met)
c.2292G>A (n.2292G>A)
c.1956G>A (n.1956G>A)
c.8374G>A (p.Val2792Met)
c.1639G>A (p.Val547Met)
n.1895G>A
c.8554G>A (p.Val2852Met)
c.8488G>A (p.Val2830Met)
c.8551G>A (p.Val2851Met)
c.8548G>A (p.Val2850Met)
c.8494G>A (p.Val2832Met)
c.8464G>A (p.Val2822Met)
c.8419G>A (p.Val2807Met)
c.8014G>A (p.Val2672Met)
c.7372G>A (p.Val2458Met)
c.4882G>A (p.Val1628Met)
10g.71807566G>CCA209436999CDH23c.8359G>C (p.Val2787Leu)
c.2292G>C (n.2292G>C)
c.1956G>C (n.1956G>C)
c.8374G>C (p.Val2792Leu)
c.1639G>C (p.Val547Leu)
n.1895G>C
c.8554G>C (p.Val2852Leu)
c.8488G>C (p.Val2830Leu)
c.8551G>C (p.Val2851Leu)
c.8548G>C (p.Val2850Leu)
c.8494G>C (p.Val2832Leu)
c.8464G>C (p.Val2822Leu)
c.8419G>C (p.Val2807Leu)
c.8014G>C (p.Val2672Leu)
c.7372G>C (p.Val2458Leu)
c.4882G>C (p.Val1628Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.71807566G=CA1918886496CDH23c.8359G= (p.Val2787=)
c.2292G= (n.2292G=)
c.1956G= (n.1956G=)
c.8374G= (p.Val2792=)
c.1639G= (p.Val547=)
n.1895G=
c.8554G= (p.Val2852=)
c.8488G= (p.Val2830=)
c.8551G= (p.Val2851=)
c.8548G= (p.Val2850=)
c.8494G= (p.Val2832=)
c.8464G= (p.Val2822=)
c.8419G= (p.Val2807=)
c.8014G= (p.Val2672=)
c.7372G= (p.Val2458=)
c.4882G= (p.Val1628=)
10g.71807566G>TCA377131394CDH23c.8359G>T (p.Val2787Leu)
c.2292G>T (n.2292G>T)
c.1956G>T (n.1956G>T)
c.8374G>T (p.Val2792Leu)
c.1639G>T (p.Val547Leu)
n.1895G>T
c.8554G>T (p.Val2852Leu)
c.8488G>T (p.Val2830Leu)
c.8551G>T (p.Val2851Leu)
c.8548G>T (p.Val2850Leu)
c.8494G>T (p.Val2832Leu)
c.8464G>T (p.Val2822Leu)
c.8419G>T (p.Val2807Leu)
c.8014G>T (p.Val2672Leu)
c.7372G>T (p.Val2458Leu)
c.4882G>T (p.Val1628Leu)
10g.71807567T>ACA377131396CDH23c.8360T>A (p.Val2787Glu)
c.2293T>A (n.2293T>A)
c.1957T>A (n.1957T>A)
c.8375T>A (p.Val2792Glu)
c.1640T>A (p.Val547Glu)
n.1896T>A
c.8555T>A (p.Val2852Glu)
c.8489T>A (p.Val2830Glu)
c.8552T>A (p.Val2851Glu)
c.8549T>A (p.Val2850Glu)
c.8495T>A (p.Val2832Glu)
c.8465T>A (p.Val2822Glu)
c.8420T>A (p.Val2807Glu)
c.8015T>A (p.Val2672Glu)
c.7373T>A (p.Val2458Glu)
c.4883T>A (p.Val1628Glu)
10g.71807567T>CCA377131397CDH23c.8360T>C (p.Val2787Ala)
c.2293T>C (n.2293T>C)
c.1957T>C (n.1957T>C)
c.8375T>C (p.Val2792Ala)
c.1640T>C (p.Val547Ala)
n.1896T>C
c.8555T>C (p.Val2852Ala)
c.8489T>C (p.Val2830Ala)
c.8552T>C (p.Val2851Ala)
c.8549T>C (p.Val2850Ala)
c.8495T>C (p.Val2832Ala)
c.8465T>C (p.Val2822Ala)
c.8420T>C (p.Val2807Ala)
c.8015T>C (p.Val2672Ala)
c.7373T>C (p.Val2458Ala)
c.4883T>C (p.Val1628Ala)
10g.71807567T>GCA377131395CDH23c.8360T>G (p.Val2787Gly)
c.2293T>G (n.2293T>G)
c.1957T>G (n.1957T>G)
c.8375T>G (p.Val2792Gly)
c.1640T>G (p.Val547Gly)
n.1896T>G
c.8555T>G (p.Val2852Gly)
c.8489T>G (p.Val2830Gly)
c.8552T>G (p.Val2851Gly)
c.8549T>G (p.Val2850Gly)
c.8495T>G (p.Val2832Gly)
c.8465T>G (p.Val2822Gly)
c.8420T>G (p.Val2807Gly)
c.8015T>G (p.Val2672Gly)
c.7373T>G (p.Val2458Gly)
c.4883T>G (p.Val1628Gly)
10g.71807568G>ACA470282413CDH23c.8361G>A (p.Val2787=)
c.2294G>A (n.2294G>A)
c.1958G>A (n.1958G>A)
c.8376G>A (p.Val2792=)
c.1641G>A (p.Val547=)
n.1897G>A
c.8556G>A (p.Val2852=)
c.8490G>A (p.Val2830=)
c.8553G>A (p.Val2851=)
c.8550G>A (p.Val2850=)
c.8496G>A (p.Val2832=)
c.8466G>A (p.Val2822=)
c.8421G>A (p.Val2807=)
c.8016G>A (p.Val2672=)
c.7374G>A (p.Val2458=)
c.4884G>A (p.Val1628=)
 dbSNP gnomAD v4
10g.71807568G>CCA470282414CDH23c.8361G>C (p.Val2787=)
c.2294G>C (n.2294G>C)
c.1958G>C (n.1958G>C)
c.8376G>C (p.Val2792=)
c.1641G>C (p.Val547=)
n.1897G>C
c.8556G>C (p.Val2852=)
c.8490G>C (p.Val2830=)
c.8553G>C (p.Val2851=)
c.8550G>C (p.Val2850=)
c.8496G>C (p.Val2832=)
c.8466G>C (p.Val2822=)
c.8421G>C (p.Val2807=)
c.8016G>C (p.Val2672=)
c.7374G>C (p.Val2458=)
c.4884G>C (p.Val1628=)
10g.71807568G>TCA470282415CDH23c.8361G>T (p.Val2787=)
c.2294G>T (n.2294G>T)
c.1958G>T (n.1958G>T)
c.8376G>T (p.Val2792=)
c.1641G>T (p.Val547=)
n.1897G>T
c.8556G>T (p.Val2852=)
c.8490G>T (p.Val2830=)
c.8553G>T (p.Val2851=)
c.8550G>T (p.Val2850=)
c.8496G>T (p.Val2832=)
c.8466G>T (p.Val2822=)
c.8421G>T (p.Val2807=)
c.8016G>T (p.Val2672=)
c.7374G>T (p.Val2458=)
c.4884G>T (p.Val1628=)
10g.71807569C>ACA377131398CDH23c.8362C>A (p.Leu2788Met)
c.2295C>A (n.2295C>A)
c.1959C>A (n.1959C>A)
c.8377C>A (p.Leu2793Met)
c.1642C>A (p.Leu548Met)
n.1898C>A
c.8557C>A (p.Leu2853Met)
c.8491C>A (p.Leu2831Met)
c.8554C>A (p.Leu2852Met)
c.8551C>A (p.Leu2851Met)
c.8497C>A (p.Leu2833Met)
c.8467C>A (p.Leu2823Met)
c.8422C>A (p.Leu2808Met)
c.8017C>A (p.Leu2673Met)
c.7375C>A (p.Leu2459Met)
c.4885C>A (p.Leu1629Met)
10g.71807569C=CA1918886498CDH23c.8362C= (p.Leu2788=)
c.2295C= (n.2295C=)
c.1959C= (n.1959C=)
c.8377C= (p.Leu2793=)
c.1642C= (p.Leu548=)
n.1898C=
c.8557C= (p.Leu2853=)
c.8491C= (p.Leu2831=)
c.8554C= (p.Leu2852=)
c.8551C= (p.Leu2851=)
c.8497C= (p.Leu2833=)
c.8467C= (p.Leu2823=)
c.8422C= (p.Leu2808=)
c.8017C= (p.Leu2673=)
c.7375C= (p.Leu2459=)
c.4885C= (p.Leu1629=)
10g.71807569C>GCA377131399CDH23c.8362C>G (p.Leu2788Val)
c.2295C>G (n.2295C>G)
c.1959C>G (n.1959C>G)
c.8377C>G (p.Leu2793Val)
c.1642C>G (p.Leu548Val)
n.1898C>G
c.8557C>G (p.Leu2853Val)
c.8491C>G (p.Leu2831Val)
c.8554C>G (p.Leu2852Val)
c.8551C>G (p.Leu2851Val)
c.8497C>G (p.Leu2833Val)
c.8467C>G (p.Leu2823Val)
c.8422C>G (p.Leu2808Val)
c.8017C>G (p.Leu2673Val)
c.7375C>G (p.Leu2459Val)
c.4885C>G (p.Leu1629Val)
10g.71807569C>TCA470282416CDH23c.8362C>T (p.Leu2788=)
c.2295C>T (n.2295C>T)
c.1959C>T (n.1959C>T)
c.8377C>T (p.Leu2793=)
c.1642C>T (p.Leu548=)
n.1898C>T
c.8557C>T (p.Leu2853=)
c.8491C>T (p.Leu2831=)
c.8554C>T (p.Leu2852=)
c.8551C>T (p.Leu2851=)
c.8497C>T (p.Leu2833=)
c.8467C>T (p.Leu2823=)
c.8422C>T (p.Leu2808=)
c.8017C>T (p.Leu2673=)
c.7375C>T (p.Leu2459=)
c.4885C>T (p.Leu1629=)
 dbSNP
10g.71807570T>ACA377131400CDH23c.8363T>A (p.Leu2788Gln)
c.2296T>A (n.2296T>A)
c.1960T>A (n.1960T>A)
c.8378T>A (p.Leu2793Gln)
c.1643T>A (p.Leu548Gln)
n.1899T>A
c.8558T>A (p.Leu2853Gln)
c.8492T>A (p.Leu2831Gln)
c.8555T>A (p.Leu2852Gln)
c.8552T>A (p.Leu2851Gln)
c.8498T>A (p.Leu2833Gln)
c.8468T>A (p.Leu2823Gln)
c.8423T>A (p.Leu2808Gln)
c.8018T>A (p.Leu2673Gln)
c.7376T>A (p.Leu2459Gln)
c.4886T>A (p.Leu1629Gln)
10g.71807570T>CCA377131401CDH23c.8363T>C (p.Leu2788Pro)
c.2296T>C (n.2296T>C)
c.1960T>C (n.1960T>C)
c.8378T>C (p.Leu2793Pro)
c.1643T>C (p.Leu548Pro)
n.1899T>C
c.8558T>C (p.Leu2853Pro)
c.8492T>C (p.Leu2831Pro)
c.8555T>C (p.Leu2852Pro)
c.8552T>C (p.Leu2851Pro)
c.8498T>C (p.Leu2833Pro)
c.8468T>C (p.Leu2823Pro)
c.8423T>C (p.Leu2808Pro)
c.8018T>C (p.Leu2673Pro)
c.7376T>C (p.Leu2459Pro)
c.4886T>C (p.Leu1629Pro)
10g.71807570T>GCA377131402CDH23c.8363T>G (p.Leu2788Arg)
c.2296T>G (n.2296T>G)
c.1960T>G (n.1960T>G)
c.8378T>G (p.Leu2793Arg)
c.1643T>G (p.Leu548Arg)
n.1899T>G
c.8558T>G (p.Leu2853Arg)
c.8492T>G (p.Leu2831Arg)
c.8555T>G (p.Leu2852Arg)
c.8552T>G (p.Leu2851Arg)
c.8498T>G (p.Leu2833Arg)
c.8468T>G (p.Leu2823Arg)
c.8423T>G (p.Leu2808Arg)
c.8018T>G (p.Leu2673Arg)
c.7376T>G (p.Leu2459Arg)
c.4886T>G (p.Leu1629Arg)
10g.71807571G>ACA470282417CDH23c.8364G>A (p.Leu2788=)
c.2297G>A (n.2297G>A)
c.1961G>A (n.1961G>A)
c.8379G>A (p.Leu2793=)
c.1644G>A (p.Leu548=)
n.1900G>A
c.8559G>A (p.Leu2853=)
c.8493G>A (p.Leu2831=)
c.8556G>A (p.Leu2852=)
c.8553G>A (p.Leu2851=)
c.8499G>A (p.Leu2833=)
c.8469G>A (p.Leu2823=)
c.8424G>A (p.Leu2808=)
c.8019G>A (p.Leu2673=)
c.7377G>A (p.Leu2459=)
c.4887G>A (p.Leu1629=)
10g.71807571G>CCA470282418CDH23c.8364G>C (p.Leu2788=)
c.2297G>C (n.2297G>C)
c.1961G>C (n.1961G>C)
c.8379G>C (p.Leu2793=)
c.1644G>C (p.Leu548=)
n.1900G>C
c.8559G>C (p.Leu2853=)
c.8493G>C (p.Leu2831=)
c.8556G>C (p.Leu2852=)
c.8553G>C (p.Leu2851=)
c.8499G>C (p.Leu2833=)
c.8469G>C (p.Leu2823=)
c.8424G>C (p.Leu2808=)
c.8019G>C (p.Leu2673=)
c.7377G>C (p.Leu2459=)
c.4887G>C (p.Leu1629=)
10g.71807571G>TCA470282419CDH23c.8364G>T (p.Leu2788=)
c.2297G>T (n.2297G>T)
c.1961G>T (n.1961G>T)
c.8379G>T (p.Leu2793=)
c.1644G>T (p.Leu548=)
n.1900G>T
c.8559G>T (p.Leu2853=)
c.8493G>T (p.Leu2831=)
c.8556G>T (p.Leu2852=)
c.8553G>T (p.Leu2851=)
c.8499G>T (p.Leu2833=)
c.8469G>T (p.Leu2823=)
c.8424G>T (p.Leu2808=)
c.8019G>T (p.Leu2673=)
c.7377G>T (p.Leu2459=)
c.4887G>T (p.Leu1629=)
10g.71807572C>ACA470282420CDH23c.8365C>A (p.Arg2789=)
c.2298C>A (n.2298C>A)
c.1962C>A (n.1962C>A)
c.8380C>A (p.Arg2794=)
c.1645C>A (p.Arg549=)
n.1901C>A
c.8560C>A (p.Arg2854=)
c.8494C>A (p.Arg2832=)
c.8557C>A (p.Arg2853=)
c.8554C>A (p.Arg2852=)
c.8500C>A (p.Arg2834=)
c.8470C>A (p.Arg2824=)
c.8425C>A (p.Arg2809=)
c.8020C>A (p.Arg2674=)
c.7378C>A (p.Arg2460=)
c.4888C>A (p.Arg1630=)
 dbSNP gnomAD v3 gnomAD v4
10g.71807572C=CA1918886500CDH23c.8365C= (p.Arg2789=)
c.2298C= (n.2298C=)
c.1962C= (n.1962C=)
c.8380C= (p.Arg2794=)
c.1645C= (p.Arg549=)
n.1901C=
c.8560C= (p.Arg2854=)
c.8494C= (p.Arg2832=)
c.8557C= (p.Arg2853=)
c.8554C= (p.Arg2852=)
c.8500C= (p.Arg2834=)
c.8470C= (p.Arg2824=)
c.8425C= (p.Arg2809=)
c.8020C= (p.Arg2674=)
c.7378C= (p.Arg2460=)
c.4888C= (p.Arg1630=)
10g.71807572C>GCA377131403CDH23c.8365C>G (p.Arg2789Gly)
c.2298C>G (n.2298C>G)
c.1962C>G (n.1962C>G)
c.8380C>G (p.Arg2794Gly)
c.1645C>G (p.Arg549Gly)
n.1901C>G
c.8560C>G (p.Arg2854Gly)
c.8494C>G (p.Arg2832Gly)
c.8557C>G (p.Arg2853Gly)
c.8554C>G (p.Arg2852Gly)
c.8500C>G (p.Arg2834Gly)
c.8470C>G (p.Arg2824Gly)
c.8425C>G (p.Arg2809Gly)
c.8020C>G (p.Arg2674Gly)
c.7378C>G (p.Arg2460Gly)
c.4888C>G (p.Arg1630Gly)
10g.71807572C>TCA5546631CDH23c.8365C>T (p.Arg2789Trp)
c.2298C>T (n.2298C>T)
c.1962C>T (n.1962C>T)
c.8380C>T (p.Arg2794Trp)
c.1645C>T (p.Arg549Trp)
n.1901C>T
c.8560C>T (p.Arg2854Trp)
c.8494C>T (p.Arg2832Trp)
c.8557C>T (p.Arg2853Trp)
c.8554C>T (p.Arg2852Trp)
c.8500C>T (p.Arg2834Trp)
c.8470C>T (p.Arg2824Trp)
c.8425C>T (p.Arg2809Trp)
c.8020C>T (p.Arg2674Trp)
c.7378C>T (p.Arg2460Trp)
c.4888C>T (p.Arg1630Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807573G>ACA377131404CDH23c.8366G>A (p.Arg2789Gln)
c.2299G>A (n.2299G>A)
c.1963G>A (n.1963G>A)
c.8381G>A (p.Arg2794Gln)
c.1646G>A (p.Arg549Gln)
n.1902G>A
c.8561G>A (p.Arg2854Gln)
c.8495G>A (p.Arg2832Gln)
c.8558G>A (p.Arg2853Gln)
c.8555G>A (p.Arg2852Gln)
c.8501G>A (p.Arg2834Gln)
c.8471G>A (p.Arg2824Gln)
c.8426G>A (p.Arg2809Gln)
c.8021G>A (p.Arg2674Gln)
c.7379G>A (p.Arg2460Gln)
c.4889G>A (p.Arg1630Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807573G>CCA377131405CDH23c.8366G>C (p.Arg2789Pro)
c.2299G>C (n.2299G>C)
c.1963G>C (n.1963G>C)
c.8381G>C (p.Arg2794Pro)
c.1646G>C (p.Arg549Pro)
n.1902G>C
c.8561G>C (p.Arg2854Pro)
c.8495G>C (p.Arg2832Pro)
c.8558G>C (p.Arg2853Pro)
c.8555G>C (p.Arg2852Pro)
c.8501G>C (p.Arg2834Pro)
c.8471G>C (p.Arg2824Pro)
c.8426G>C (p.Arg2809Pro)
c.8021G>C (p.Arg2674Pro)
c.7379G>C (p.Arg2460Pro)
c.4889G>C (p.Arg1630Pro)
10g.71807573G=CA1918886503CDH23c.8366G= (p.Arg2789=)
c.2299G= (n.2299G=)
c.1963G= (n.1963G=)
c.8381G= (p.Arg2794=)
c.1646G= (p.Arg549=)
n.1902G=
c.8561G= (p.Arg2854=)
c.8495G= (p.Arg2832=)
c.8558G= (p.Arg2853=)
c.8555G= (p.Arg2852=)
c.8501G= (p.Arg2834=)
c.8471G= (p.Arg2824=)
c.8426G= (p.Arg2809=)
c.8021G= (p.Arg2674=)
c.7379G= (p.Arg2460=)
c.4889G= (p.Arg1630=)
10g.71807573G>TCA377131406CDH23c.8366G>T (p.Arg2789Leu)
c.2299G>T (n.2299G>T)
c.1963G>T (n.1963G>T)
c.8381G>T (p.Arg2794Leu)
c.1646G>T (p.Arg549Leu)
n.1902G>T
c.8561G>T (p.Arg2854Leu)
c.8495G>T (p.Arg2832Leu)
c.8558G>T (p.Arg2853Leu)
c.8555G>T (p.Arg2852Leu)
c.8501G>T (p.Arg2834Leu)
c.8471G>T (p.Arg2824Leu)
c.8426G>T (p.Arg2809Leu)
c.8021G>T (p.Arg2674Leu)
c.7379G>T (p.Arg2460Leu)
c.4889G>T (p.Arg1630Leu)
10g.71807575dupCA2695212118CDH23c.8368dup (p.Asp2790GlyfsTer?)
c.2301dup (n.2301dup)
c.1965dup (n.1965dup)
c.8383dup (p.Asp2795GlyfsTer?)
c.1648dup (p.Asp550GlyfsTer?)
n.1904dup
c.8563dup (p.Asp2855GlyfsTer?)
c.8497dup (p.Asp2833GlyfsTer?)
c.8560dup (p.Asp2854GlyfsTer?)
c.8557dup (p.Asp2853GlyfsTer?)
c.8503dup (p.Asp2835GlyfsTer?)
c.8473dup (p.Asp2825GlyfsTer?)
c.8428dup (p.Asp2810GlyfsTer?)
c.8023dup (p.Asp2675GlyfsTer?)
c.7381dup (p.Asp2461GlyfsTer?)
c.4891dup (p.Asp1631GlyfsTer?)
10g.71807574G>ACA470282421CDH23c.8367G>A (p.Arg2789=)
c.2300G>A (n.2300G>A)
c.1964G>A (n.1964G>A)
c.8382G>A (p.Arg2794=)
c.1647G>A (p.Arg549=)
n.1903G>A
c.8562G>A (p.Arg2854=)
c.8496G>A (p.Arg2832=)
c.8559G>A (p.Arg2853=)
c.8556G>A (p.Arg2852=)
c.8502G>A (p.Arg2834=)
c.8472G>A (p.Arg2824=)
c.8427G>A (p.Arg2809=)
c.8022G>A (p.Arg2674=)
c.7380G>A (p.Arg2460=)
c.4890G>A (p.Arg1630=)
10g.71807574G>CCA470282422CDH23c.8367G>C (p.Arg2789=)
c.2300G>C (n.2300G>C)
c.1964G>C (n.1964G>C)
c.8382G>C (p.Arg2794=)
c.1647G>C (p.Arg549=)
n.1903G>C
c.8562G>C (p.Arg2854=)
c.8496G>C (p.Arg2832=)
c.8559G>C (p.Arg2853=)
c.8556G>C (p.Arg2852=)
c.8502G>C (p.Arg2834=)
c.8472G>C (p.Arg2824=)
c.8427G>C (p.Arg2809=)
c.8022G>C (p.Arg2674=)
c.7380G>C (p.Arg2460=)
c.4890G>C (p.Arg1630=)
10g.71807574G>TCA470282423CDH23c.8367G>T (p.Arg2789=)
c.2300G>T (n.2300G>T)
c.1964G>T (n.1964G>T)
c.8382G>T (p.Arg2794=)
c.1647G>T (p.Arg549=)
n.1903G>T
c.8562G>T (p.Arg2854=)
c.8496G>T (p.Arg2832=)
c.8559G>T (p.Arg2853=)
c.8556G>T (p.Arg2852=)
c.8502G>T (p.Arg2834=)
c.8472G>T (p.Arg2824=)
c.8427G>T (p.Arg2809=)
c.8022G>T (p.Arg2674=)
c.7380G>T (p.Arg2460=)
c.4890G>T (p.Arg1630=)
10g.71807575G>ACA5546632CDH23c.8368G>A (p.Asp2790Asn)
c.2301G>A (n.2301G>A)
c.1965G>A (n.1965G>A)
c.8383G>A (p.Asp2795Asn)
c.1648G>A (p.Asp550Asn)
n.1904G>A
c.8563G>A (p.Asp2855Asn)
c.8497G>A (p.Asp2833Asn)
c.8560G>A (p.Asp2854Asn)
c.8557G>A (p.Asp2853Asn)
c.8503G>A (p.Asp2835Asn)
c.8473G>A (p.Asp2825Asn)
c.8428G>A (p.Asp2810Asn)
c.8023G>A (p.Asp2675Asn)
c.7381G>A (p.Asp2461Asn)
c.4891G>A (p.Asp1631Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807575G>CCA377131407CDH23c.8368G>C (p.Asp2790His)
c.2301G>C (n.2301G>C)
c.1965G>C (n.1965G>C)
c.8383G>C (p.Asp2795His)
c.1648G>C (p.Asp550His)
n.1904G>C
c.8563G>C (p.Asp2855His)
c.8497G>C (p.Asp2833His)
c.8560G>C (p.Asp2854His)
c.8557G>C (p.Asp2853His)
c.8503G>C (p.Asp2835His)
c.8473G>C (p.Asp2825His)
c.8428G>C (p.Asp2810His)
c.8023G>C (p.Asp2675His)
c.7381G>C (p.Asp2461His)
c.4891G>C (p.Asp1631His)
10g.71807575G=CA1918886505CDH23c.8368G= (p.Asp2790=)
c.2301G= (n.2301G=)
c.1965G= (n.1965G=)
c.8383G= (p.Asp2795=)
c.1648G= (p.Asp550=)
n.1904G=
c.8563G= (p.Asp2855=)
c.8497G= (p.Asp2833=)
c.8560G= (p.Asp2854=)
c.8557G= (p.Asp2853=)
c.8503G= (p.Asp2835=)
c.8473G= (p.Asp2825=)
c.8428G= (p.Asp2810=)
c.8023G= (p.Asp2675=)
c.7381G= (p.Asp2461=)
c.4891G= (p.Asp1631=)
10g.71807575G>TCA377131408CDH23c.8368G>T (p.Asp2790Tyr)
c.2301G>T (n.2301G>T)
c.1965G>T (n.1965G>T)
c.8383G>T (p.Asp2795Tyr)
c.1648G>T (p.Asp550Tyr)
n.1904G>T
c.8563G>T (p.Asp2855Tyr)
c.8497G>T (p.Asp2833Tyr)
c.8560G>T (p.Asp2854Tyr)
c.8557G>T (p.Asp2853Tyr)
c.8503G>T (p.Asp2835Tyr)
c.8473G>T (p.Asp2825Tyr)
c.8428G>T (p.Asp2810Tyr)
c.8023G>T (p.Asp2675Tyr)
c.7381G>T (p.Asp2461Tyr)
c.4891G>T (p.Asp1631Tyr)
10g.71807576A>CCA377131409CDH23c.8369A>C (p.Asp2790Ala)
c.2302A>C (n.2302A>C)
c.1966A>C (n.1966A>C)
c.8384A>C (p.Asp2795Ala)
c.1649A>C (p.Asp550Ala)
n.1905A>C
c.8564A>C (p.Asp2855Ala)
c.8498A>C (p.Asp2833Ala)
c.8561A>C (p.Asp2854Ala)
c.8558A>C (p.Asp2853Ala)
c.8504A>C (p.Asp2835Ala)
c.8474A>C (p.Asp2825Ala)
c.8429A>C (p.Asp2810Ala)
c.8024A>C (p.Asp2675Ala)
c.7382A>C (p.Asp2461Ala)
c.4892A>C (p.Asp1631Ala)
10g.71807576A>GCA377131411CDH23c.8369A>G (p.Asp2790Gly)
c.2302A>G (n.2302A>G)
c.1966A>G (n.1966A>G)
c.8384A>G (p.Asp2795Gly)
c.1649A>G (p.Asp550Gly)
n.1905A>G
c.8564A>G (p.Asp2855Gly)
c.8498A>G (p.Asp2833Gly)
c.8561A>G (p.Asp2854Gly)
c.8558A>G (p.Asp2853Gly)
c.8504A>G (p.Asp2835Gly)
c.8474A>G (p.Asp2825Gly)
c.8429A>G (p.Asp2810Gly)
c.8024A>G (p.Asp2675Gly)
c.7382A>G (p.Asp2461Gly)
c.4892A>G (p.Asp1631Gly)
10g.71807576A>TCA377131410CDH23c.8369A>T (p.Asp2790Val)
c.2302A>T (n.2302A>T)
c.1966A>T (n.1966A>T)
c.8384A>T (p.Asp2795Val)
c.1649A>T (p.Asp550Val)
n.1905A>T
c.8564A>T (p.Asp2855Val)
c.8498A>T (p.Asp2833Val)
c.8561A>T (p.Asp2854Val)
c.8558A>T (p.Asp2853Val)
c.8504A>T (p.Asp2835Val)
c.8474A>T (p.Asp2825Val)
c.8429A>T (p.Asp2810Val)
c.8024A>T (p.Asp2675Val)
c.7382A>T (p.Asp2461Val)
c.4892A>T (p.Asp1631Val)
10g.71807577C>ACA377131412CDH23c.8370C>A (p.Asp2790Glu)
c.2303C>A (n.2303C>A)
c.1967C>A (n.1967C>A)
c.8385C>A (p.Asp2795Glu)
c.1650C>A (p.Asp550Glu)
n.1906C>A
c.8565C>A (p.Asp2855Glu)
c.8499C>A (p.Asp2833Glu)
c.8562C>A (p.Asp2854Glu)
c.8559C>A (p.Asp2853Glu)
c.8505C>A (p.Asp2835Glu)
c.8475C>A (p.Asp2825Glu)
c.8430C>A (p.Asp2810Glu)
c.8025C>A (p.Asp2675Glu)
c.7383C>A (p.Asp2461Glu)
c.4893C>A (p.Asp1631Glu)
10g.71807577C>GCA377131413CDH23c.8370C>G (p.Asp2790Glu)
c.2303C>G (n.2303C>G)
c.1967C>G (n.1967C>G)
c.8385C>G (p.Asp2795Glu)
c.1650C>G (p.Asp550Glu)
n.1906C>G
c.8565C>G (p.Asp2855Glu)
c.8499C>G (p.Asp2833Glu)
c.8562C>G (p.Asp2854Glu)
c.8559C>G (p.Asp2853Glu)
c.8505C>G (p.Asp2835Glu)
c.8475C>G (p.Asp2825Glu)
c.8430C>G (p.Asp2810Glu)
c.8025C>G (p.Asp2675Glu)
c.7383C>G (p.Asp2461Glu)
c.4893C>G (p.Asp1631Glu)
 dbSNP
10g.71807577C>TCA470282424CDH23c.8370C>T (p.Asp2790=)
c.2303C>T (n.2303C>T)
c.1967C>T (n.1967C>T)
c.8385C>T (p.Asp2795=)
c.1650C>T (p.Asp550=)
n.1906C>T
c.8565C>T (p.Asp2855=)
c.8499C>T (p.Asp2833=)
c.8562C>T (p.Asp2854=)
c.8559C>T (p.Asp2853=)
c.8505C>T (p.Asp2835=)
c.8475C>T (p.Asp2825=)
c.8430C>T (p.Asp2810=)
c.8025C>T (p.Asp2675=)
c.7383C>T (p.Asp2461=)
c.4893C>T (p.Asp1631=)
10g.71807578delCA2609586200CDH23c.8371del (p.Leu2791TrpfsTer?)
c.2304del (n.2304del)
c.1968del (n.1968del)
c.8386del (p.Leu2796TrpfsTer?)
c.1651del (p.Leu551TrpfsTer?)
n.1907del
c.8566del (p.Leu2856TrpfsTer?)
c.8500del (p.Leu2834TrpfsTer?)
c.8563del (p.Leu2855TrpfsTer?)
c.8560del (p.Leu2854TrpfsTer?)
c.8506del (p.Leu2836TrpfsTer?)
c.8476del (p.Leu2826TrpfsTer?)
c.8431del (p.Leu2811TrpfsTer?)
c.8026del (p.Leu2676TrpfsTer?)
c.7384del (p.Leu2462TrpfsTer?)
c.4894del (p.Leu1632TrpfsTer?)
 ClinVar gnomAD v4
10g.71807578C>ACA377131414CDH23c.8371C>A (p.Leu2791Met)
c.2304C>A (n.2304C>A)
c.1968C>A (n.1968C>A)
c.8386C>A (p.Leu2796Met)
c.1651C>A (p.Leu551Met)
n.1907C>A
c.8566C>A (p.Leu2856Met)
c.8500C>A (p.Leu2834Met)
c.8563C>A (p.Leu2855Met)
c.8560C>A (p.Leu2854Met)
c.8506C>A (p.Leu2836Met)
c.8476C>A (p.Leu2826Met)
c.8431C>A (p.Leu2811Met)
c.8026C>A (p.Leu2676Met)
c.7384C>A (p.Leu2462Met)
c.4894C>A (p.Leu1632Met)
 dbSNP
10g.71807578C=CA1918886507CDH23c.8371C= (p.Leu2791=)
c.2304C= (n.2304C=)
c.1968C= (n.1968C=)
c.8386C= (p.Leu2796=)
c.1651C= (p.Leu551=)
n.1907C=
c.8566C= (p.Leu2856=)
c.8500C= (p.Leu2834=)
c.8563C= (p.Leu2855=)
c.8560C= (p.Leu2854=)
c.8506C= (p.Leu2836=)
c.8476C= (p.Leu2826=)
c.8431C= (p.Leu2811=)
c.8026C= (p.Leu2676=)
c.7384C= (p.Leu2462=)
c.4894C= (p.Leu1632=)
10g.71807578C>GCA377131415CDH23c.8371C>G (p.Leu2791Val)
c.2304C>G (n.2304C>G)
c.1968C>G (n.1968C>G)
c.8386C>G (p.Leu2796Val)
c.1651C>G (p.Leu551Val)
n.1907C>G
c.8566C>G (p.Leu2856Val)
c.8500C>G (p.Leu2834Val)
c.8563C>G (p.Leu2855Val)
c.8560C>G (p.Leu2854Val)
c.8506C>G (p.Leu2836Val)
c.8476C>G (p.Leu2826Val)
c.8431C>G (p.Leu2811Val)
c.8026C>G (p.Leu2676Val)
c.7384C>G (p.Leu2462Val)
c.4894C>G (p.Leu1632Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71807578C>TCA470282425CDH23c.8371C>T (p.Leu2791=)
c.2304C>T (n.2304C>T)
c.1968C>T (n.1968C>T)
c.8386C>T (p.Leu2796=)
c.1651C>T (p.Leu551=)
n.1907C>T
c.8566C>T (p.Leu2856=)
c.8500C>T (p.Leu2834=)
c.8563C>T (p.Leu2855=)
c.8560C>T (p.Leu2854=)
c.8506C>T (p.Leu2836=)
c.8476C>T (p.Leu2826=)
c.8431C>T (p.Leu2811=)
c.8026C>T (p.Leu2676=)
c.7384C>T (p.Leu2462=)
c.4894C>T (p.Leu1632=)
10g.71807579T>ACA377131416CDH23c.8372T>A (p.Leu2791Gln)
c.2305T>A (n.2305T>A)
c.1969T>A (n.1969T>A)
c.8387T>A (p.Leu2796Gln)
c.1652T>A (p.Leu551Gln)
n.1908T>A
c.8567T>A (p.Leu2856Gln)
c.8501T>A (p.Leu2834Gln)
c.8564T>A (p.Leu2855Gln)
c.8561T>A (p.Leu2854Gln)
c.8507T>A (p.Leu2836Gln)
c.8477T>A (p.Leu2826Gln)
c.8432T>A (p.Leu2811Gln)
c.8027T>A (p.Leu2676Gln)
c.7385T>A (p.Leu2462Gln)
c.4895T>A (p.Leu1632Gln)
10g.71807579T>CCA5546633CDH23c.8372T>C (p.Leu2791Pro)
c.2305T>C (n.2305T>C)
c.1969T>C (n.1969T>C)
c.8387T>C (p.Leu2796Pro)
c.1652T>C (p.Leu551Pro)
n.1908T>C
c.8567T>C (p.Leu2856Pro)
c.8501T>C (p.Leu2834Pro)
c.8564T>C (p.Leu2855Pro)
c.8561T>C (p.Leu2854Pro)
c.8507T>C (p.Leu2836Pro)
c.8477T>C (p.Leu2826Pro)
c.8432T>C (p.Leu2811Pro)
c.8027T>C (p.Leu2676Pro)
c.7385T>C (p.Leu2462Pro)
c.4895T>C (p.Leu1632Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807579T>GCA377131417CDH23c.8372T>G (p.Leu2791Arg)
c.2305T>G (n.2305T>G)
c.1969T>G (n.1969T>G)
c.8387T>G (p.Leu2796Arg)
c.1652T>G (p.Leu551Arg)
n.1908T>G
c.8567T>G (p.Leu2856Arg)
c.8501T>G (p.Leu2834Arg)
c.8564T>G (p.Leu2855Arg)
c.8561T>G (p.Leu2854Arg)
c.8507T>G (p.Leu2836Arg)
c.8477T>G (p.Leu2826Arg)
c.8432T>G (p.Leu2811Arg)
c.8027T>G (p.Leu2676Arg)
c.7385T>G (p.Leu2462Arg)
c.4895T>G (p.Leu1632Arg)
10g.71807579T=CA1918886509CDH23c.8372T= (p.Leu2791=)
c.2305T= (n.2305T=)
c.1969T= (n.1969T=)
c.8387T= (p.Leu2796=)
c.1652T= (p.Leu551=)
n.1908T=
c.8567T= (p.Leu2856=)
c.8501T= (p.Leu2834=)
c.8564T= (p.Leu2855=)
c.8561T= (p.Leu2854=)
c.8507T= (p.Leu2836=)
c.8477T= (p.Leu2826=)
c.8432T= (p.Leu2811=)
c.8027T= (p.Leu2676=)
c.7385T= (p.Leu2462=)
c.4895T= (p.Leu1632=)
10g.71807580G>ACA470282426CDH23c.8373G>A (p.Leu2791=)
c.2306G>A (n.2306G>A)
c.1970G>A (n.1970G>A)
c.8388G>A (p.Leu2796=)
c.1653G>A (p.Leu551=)
n.1909G>A
c.8568G>A (p.Leu2856=)
c.8502G>A (p.Leu2834=)
c.8565G>A (p.Leu2855=)
c.8562G>A (p.Leu2854=)
c.8508G>A (p.Leu2836=)
c.8478G>A (p.Leu2826=)
c.8433G>A (p.Leu2811=)
c.8028G>A (p.Leu2676=)
c.7386G>A (p.Leu2462=)
c.4896G>A (p.Leu1632=)
10g.71807580G>CCA470282427CDH23c.8373G>C (p.Leu2791=)
c.2306G>C (n.2306G>C)
c.1970G>C (n.1970G>C)
c.8388G>C (p.Leu2796=)
c.1653G>C (p.Leu551=)
n.1909G>C
c.8568G>C (p.Leu2856=)
c.8502G>C (p.Leu2834=)
c.8565G>C (p.Leu2855=)
c.8562G>C (p.Leu2854=)
c.8508G>C (p.Leu2836=)
c.8478G>C (p.Leu2826=)
c.8433G>C (p.Leu2811=)
c.8028G>C (p.Leu2676=)
c.7386G>C (p.Leu2462=)
c.4896G>C (p.Leu1632=)
10g.71807580G>TCA470282428CDH23c.8373G>T (p.Leu2791=)
c.2306G>T (n.2306G>T)
c.1970G>T (n.1970G>T)
c.8388G>T (p.Leu2796=)
c.1653G>T (p.Leu551=)
n.1909G>T
c.8568G>T (p.Leu2856=)
c.8502G>T (p.Leu2834=)
c.8565G>T (p.Leu2855=)
c.8562G>T (p.Leu2854=)
c.8508G>T (p.Leu2836=)
c.8478G>T (p.Leu2826=)
c.8433G>T (p.Leu2811=)
c.8028G>T (p.Leu2676=)
c.7386G>T (p.Leu2462=)
c.4896G>T (p.Leu1632=)
10g.71807581G>ACA377131418CDH23c.8374G>A (p.Asp2792Asn)
c.2307G>A (n.2307G>A)
c.1971G>A (n.1971G>A)
c.8389G>A (p.Asp2797Asn)
c.1654G>A (p.Asp552Asn)
n.1910G>A
c.8569G>A (p.Asp2857Asn)
c.8503G>A (p.Asp2835Asn)
c.8566G>A (p.Asp2856Asn)
c.8563G>A (p.Asp2855Asn)
c.8509G>A (p.Asp2837Asn)
c.8479G>A (p.Asp2827Asn)
c.8434G>A (p.Asp2812Asn)
c.8029G>A (p.Asp2677Asn)
c.7387G>A (p.Asp2463Asn)
c.4897G>A (p.Asp1633Asn)
 gnomAD v4
10g.71807581G>CCA377131419CDH23c.8374G>C (p.Asp2792His)
c.2307G>C (n.2307G>C)
c.1971G>C (n.1971G>C)
c.8389G>C (p.Asp2797His)
c.1654G>C (p.Asp552His)
n.1910G>C
c.8569G>C (p.Asp2857His)
c.8503G>C (p.Asp2835His)
c.8566G>C (p.Asp2856His)
c.8563G>C (p.Asp2855His)
c.8509G>C (p.Asp2837His)
c.8479G>C (p.Asp2827His)
c.8434G>C (p.Asp2812His)
c.8029G>C (p.Asp2677His)
c.7387G>C (p.Asp2463His)
c.4897G>C (p.Asp1633His)
10g.71807581G>TCA377131420CDH23c.8374G>T (p.Asp2792Tyr)
c.2307G>T (n.2307G>T)
c.1971G>T (n.1971G>T)
c.8389G>T (p.Asp2797Tyr)
c.1654G>T (p.Asp552Tyr)
n.1910G>T
c.8569G>T (p.Asp2857Tyr)
c.8503G>T (p.Asp2835Tyr)
c.8566G>T (p.Asp2856Tyr)
c.8563G>T (p.Asp2855Tyr)
c.8509G>T (p.Asp2837Tyr)
c.8479G>T (p.Asp2827Tyr)
c.8434G>T (p.Asp2812Tyr)
c.8029G>T (p.Asp2677Tyr)
c.7387G>T (p.Asp2463Tyr)
c.4897G>T (p.Asp1633Tyr)
10g.71807582A=CA1918886510CDH23c.8375A= (p.Asp2792=)
c.2308A= (n.2308A=)
c.1972A= (n.1972A=)
c.8390A= (p.Asp2797=)
c.1655A= (p.Asp552=)
n.1911A=
c.8570A= (p.Asp2857=)
c.8504A= (p.Asp2835=)
c.8567A= (p.Asp2856=)
c.8564A= (p.Asp2855=)
c.8510A= (p.Asp2837=)
c.8480A= (p.Asp2827=)
c.8435A= (p.Asp2812=)
c.8030A= (p.Asp2677=)
c.7388A= (p.Asp2463=)
c.4898A= (p.Asp1633=)
10g.71807582A>CCA377131423CDH23c.8375A>C (p.Asp2792Ala)
c.2308A>C (n.2308A>C)
c.1972A>C (n.1972A>C)
c.8390A>C (p.Asp2797Ala)
c.1655A>C (p.Asp552Ala)
n.1911A>C
c.8570A>C (p.Asp2857Ala)
c.8504A>C (p.Asp2835Ala)
c.8567A>C (p.Asp2856Ala)
c.8564A>C (p.Asp2855Ala)
c.8510A>C (p.Asp2837Ala)
c.8480A>C (p.Asp2827Ala)
c.8435A>C (p.Asp2812Ala)
c.8030A>C (p.Asp2677Ala)
c.7388A>C (p.Asp2463Ala)
c.4898A>C (p.Asp1633Ala)
10g.71807582A>GCA377131421CDH23c.8375A>G (p.Asp2792Gly)
c.2308A>G (n.2308A>G)
c.1972A>G (n.1972A>G)
c.8390A>G (p.Asp2797Gly)
c.1655A>G (p.Asp552Gly)
n.1911A>G
c.8570A>G (p.Asp2857Gly)
c.8504A>G (p.Asp2835Gly)
c.8567A>G (p.Asp2856Gly)
c.8564A>G (p.Asp2855Gly)
c.8510A>G (p.Asp2837Gly)
c.8480A>G (p.Asp2827Gly)
c.8435A>G (p.Asp2812Gly)
c.8030A>G (p.Asp2677Gly)
c.7388A>G (p.Asp2463Gly)
c.4898A>G (p.Asp1633Gly)
10g.71807582A>TCA377131422CDH23c.8375A>T (p.Asp2792Val)
c.2308A>T (n.2308A>T)
c.1972A>T (n.1972A>T)
c.8390A>T (p.Asp2797Val)
c.1655A>T (p.Asp552Val)
n.1911A>T
c.8570A>T (p.Asp2857Val)
c.8504A>T (p.Asp2835Val)
c.8567A>T (p.Asp2856Val)
c.8564A>T (p.Asp2855Val)
c.8510A>T (p.Asp2837Val)
c.8480A>T (p.Asp2827Val)
c.8435A>T (p.Asp2812Val)
c.8030A>T (p.Asp2677Val)
c.7388A>T (p.Asp2463Val)
c.4898A>T (p.Asp1633Val)
10g.71807582_71807583insGCACA2609586219CDH23c.8375_8376insGCA (p.Asp2792delinsGluHis)
c.2308_2309insGCA (n.2308_2309insGCA)
c.1972_1973insGCA (n.1972_1973insGCA)
c.8390_8391insGCA (p.Asp2797delinsGluHis)
c.1655_1656insGCA (p.Asp552delinsGluHis)
n.1911_1912insGCA
c.8570_8571insGCA (p.Asp2857delinsGluHis)
c.8504_8505insGCA (p.Asp2835delinsGluHis)
c.8567_8568insGCA (p.Asp2856delinsGluHis)
c.8564_8565insGCA (p.Asp2855delinsGluHis)
c.8510_8511insGCA (p.Asp2837delinsGluHis)
c.8480_8481insGCA (p.Asp2827delinsGluHis)
c.8435_8436insGCA (p.Asp2812delinsGluHis)
c.8030_8031insGCA (p.Asp2677delinsGluHis)
c.7388_7389insGCA (p.Asp2463delinsGluHis)
c.4898_4899insGCA (p.Asp1633delinsGluHis)
 gnomAD v4
10g.71807583C>ACA5546634CDH23c.8376C>A (p.Asp2792Glu)
c.2309C>A (n.2309C>A)
c.1973C>A (n.1973C>A)
c.8391C>A (p.Asp2797Glu)
c.1656C>A (p.Asp552Glu)
n.1912C>A
c.8571C>A (p.Asp2857Glu)
c.8505C>A (p.Asp2835Glu)
c.8568C>A (p.Asp2856Glu)
c.8565C>A (p.Asp2855Glu)
c.8511C>A (p.Asp2837Glu)
c.8481C>A (p.Asp2827Glu)
c.8436C>A (p.Asp2812Glu)
c.8031C>A (p.Asp2677Glu)
c.7389C>A (p.Asp2463Glu)
c.4899C>A (p.Asp1633Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807583C=CA1918886513CDH23c.8376C= (p.Asp2792=)
c.2309C= (n.2309C=)
c.1973C= (n.1973C=)
c.8391C= (p.Asp2797=)
c.1656C= (p.Asp552=)
n.1912C=
c.8571C= (p.Asp2857=)
c.8505C= (p.Asp2835=)
c.8568C= (p.Asp2856=)
c.8565C= (p.Asp2855=)
c.8511C= (p.Asp2837=)
c.8481C= (p.Asp2827=)
c.8436C= (p.Asp2812=)
c.8031C= (p.Asp2677=)
c.7389C= (p.Asp2463=)
c.4899C= (p.Asp1633=)
10g.71807583C>GCA377131424CDH23c.8376C>G (p.Asp2792Glu)
c.2309C>G (n.2309C>G)
c.1973C>G (n.1973C>G)
c.8391C>G (p.Asp2797Glu)
c.1656C>G (p.Asp552Glu)
n.1912C>G
c.8571C>G (p.Asp2857Glu)
c.8505C>G (p.Asp2835Glu)
c.8568C>G (p.Asp2856Glu)
c.8565C>G (p.Asp2855Glu)
c.8511C>G (p.Asp2837Glu)
c.8481C>G (p.Asp2827Glu)
c.8436C>G (p.Asp2812Glu)
c.8031C>G (p.Asp2677Glu)
c.7389C>G (p.Asp2463Glu)
c.4899C>G (p.Asp1633Glu)
 dbSNP
10g.71807583C>TCA470282429CDH23c.8376C>T (p.Asp2792=)
c.2309C>T (n.2309C>T)
c.1973C>T (n.1973C>T)
c.8391C>T (p.Asp2797=)
c.1656C>T (p.Asp552=)
n.1912C>T
c.8571C>T (p.Asp2857=)
c.8505C>T (p.Asp2835=)
c.8568C>T (p.Asp2856=)
c.8565C>T (p.Asp2855=)
c.8511C>T (p.Asp2837=)
c.8481C>T (p.Asp2827=)
c.8436C>T (p.Asp2812=)
c.8031C>T (p.Asp2677=)
c.7389C>T (p.Asp2463=)
c.4899C>T (p.Asp1633=)
 dbSNP
10g.71807584dupCA1918886512CDH23c.8377dup (p.Arg2793ProfsTer?)
c.2310dup (n.2310dup)
c.1974dup (n.1974dup)
c.8392dup (p.Arg2798ProfsTer?)
c.1657dup (p.Arg553ProfsTer?)
n.1913dup
c.8572dup (p.Arg2858ProfsTer?)
c.8506dup (p.Arg2836ProfsTer?)
c.8569dup (p.Arg2857ProfsTer?)
c.8566dup (p.Arg2856ProfsTer?)
c.8512dup (p.Arg2838ProfsTer?)
c.8482dup (p.Arg2828ProfsTer?)
c.8437dup (p.Arg2813ProfsTer?)
c.8032dup (p.Arg2678ProfsTer?)
c.7390dup (p.Arg2464ProfsTer?)
c.4900dup (p.Arg1634ProfsTer?)
 dbSNP
10g.71807584C>ACA5546635CDH23c.8377C>A (p.Arg2793=)
c.2310C>A (n.2310C>A)
c.1974C>A (n.1974C>A)
c.8392C>A (p.Arg2798=)
c.1657C>A (p.Arg553=)
n.1913C>A
c.8572C>A (p.Arg2858=)
c.8506C>A (p.Arg2836=)
c.8569C>A (p.Arg2857=)
c.8566C>A (p.Arg2856=)
c.8512C>A (p.Arg2838=)
c.8482C>A (p.Arg2828=)
c.8437C>A (p.Arg2813=)
c.8032C>A (p.Arg2678=)
c.7390C>A (p.Arg2464=)
c.4900C>A (p.Arg1634=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807584C=CA1918886517CDH23c.8377C= (p.Arg2793=)
c.2310C= (n.2310C=)
c.1974C= (n.1974C=)
c.8392C= (p.Arg2798=)
c.1657C= (p.Arg553=)
n.1913C=
c.8572C= (p.Arg2858=)
c.8506C= (p.Arg2836=)
c.8569C= (p.Arg2857=)
c.8566C= (p.Arg2856=)
c.8512C= (p.Arg2838=)
c.8482C= (p.Arg2828=)
c.8437C= (p.Arg2813=)
c.8032C= (p.Arg2678=)
c.7390C= (p.Arg2464=)
c.4900C= (p.Arg1634=)
10g.71807584C>GCA377131425CDH23c.8377C>G (p.Arg2793Gly)
c.2310C>G (n.2310C>G)
c.1974C>G (n.1974C>G)
c.8392C>G (p.Arg2798Gly)
c.1657C>G (p.Arg553Gly)
n.1913C>G
c.8572C>G (p.Arg2858Gly)
c.8506C>G (p.Arg2836Gly)
c.8569C>G (p.Arg2857Gly)
c.8566C>G (p.Arg2856Gly)
c.8512C>G (p.Arg2838Gly)
c.8482C>G (p.Arg2828Gly)
c.8437C>G (p.Arg2813Gly)
c.8032C>G (p.Arg2678Gly)
c.7390C>G (p.Arg2464Gly)
c.4900C>G (p.Arg1634Gly)
 dbSNP gnomAD v4
10g.71807584C>TCA5546636CDH23c.8377C>T (p.Arg2793Trp)
c.2310C>T (n.2310C>T)
c.1974C>T (n.1974C>T)
c.8392C>T (p.Arg2798Trp)
c.1657C>T (p.Arg553Trp)
n.1913C>T
c.8572C>T (p.Arg2858Trp)
c.8506C>T (p.Arg2836Trp)
c.8569C>T (p.Arg2857Trp)
c.8566C>T (p.Arg2856Trp)
c.8512C>T (p.Arg2838Trp)
c.8482C>T (p.Arg2828Trp)
c.8437C>T (p.Arg2813Trp)
c.8032C>T (p.Arg2678Trp)
c.7390C>T (p.Arg2464Trp)
c.4900C>T (p.Arg1634Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807585G>ACA5546637CDH23c.8378G>A (p.Arg2793Gln)
c.2311G>A (n.2311G>A)
c.1975G>A (n.1975G>A)
c.8393G>A (p.Arg2798Gln)
c.1658G>A (p.Arg553Gln)
n.1914G>A
c.8573G>A (p.Arg2858Gln)
c.8507G>A (p.Arg2836Gln)
c.8570G>A (p.Arg2857Gln)
c.8567G>A (p.Arg2856Gln)
c.8513G>A (p.Arg2838Gln)
c.8483G>A (p.Arg2828Gln)
c.8438G>A (p.Arg2813Gln)
c.8033G>A (p.Arg2678Gln)
c.7391G>A (p.Arg2464Gln)
c.4901G>A (p.Arg1634Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807585G>CCA377131426CDH23c.8378G>C (p.Arg2793Pro)
c.2311G>C (n.2311G>C)
c.1975G>C (n.1975G>C)
c.8393G>C (p.Arg2798Pro)
c.1658G>C (p.Arg553Pro)
n.1914G>C
c.8573G>C (p.Arg2858Pro)
c.8507G>C (p.Arg2836Pro)
c.8570G>C (p.Arg2857Pro)
c.8567G>C (p.Arg2856Pro)
c.8513G>C (p.Arg2838Pro)
c.8483G>C (p.Arg2828Pro)
c.8438G>C (p.Arg2813Pro)
c.8033G>C (p.Arg2678Pro)
c.7391G>C (p.Arg2464Pro)
c.4901G>C (p.Arg1634Pro)
10g.71807585G=CA1918886521CDH23c.8378G= (p.Arg2793=)
c.2311G= (n.2311G=)
c.1975G= (n.1975G=)
c.8393G= (p.Arg2798=)
c.1658G= (p.Arg553=)
n.1914G=
c.8573G= (p.Arg2858=)
c.8507G= (p.Arg2836=)
c.8570G= (p.Arg2857=)
c.8567G= (p.Arg2856=)
c.8513G= (p.Arg2838=)
c.8483G= (p.Arg2828=)
c.8438G= (p.Arg2813=)
c.8033G= (p.Arg2678=)
c.7391G= (p.Arg2464=)
c.4901G= (p.Arg1634=)
10g.71807585G>TCA377131427CDH23c.8378G>T (p.Arg2793Leu)
c.2311G>T (n.2311G>T)
c.1975G>T (n.1975G>T)
c.8393G>T (p.Arg2798Leu)
c.1658G>T (p.Arg553Leu)
n.1914G>T
c.8573G>T (p.Arg2858Leu)
c.8507G>T (p.Arg2836Leu)
c.8570G>T (p.Arg2857Leu)
c.8567G>T (p.Arg2856Leu)
c.8513G>T (p.Arg2838Leu)
c.8483G>T (p.Arg2828Leu)
c.8438G>T (p.Arg2813Leu)
c.8033G>T (p.Arg2678Leu)
c.7391G>T (p.Arg2464Leu)
c.4901G>T (p.Arg1634Leu)
 dbSNP
10g.71807586G>ACA470282431CDH23c.8379G>A (p.Arg2793=)
c.2312G>A (n.2312G>A)
c.1976G>A (n.1976G>A)
c.8394G>A (p.Arg2798=)
c.1659G>A (p.Arg553=)
n.1915G>A
c.8574G>A (p.Arg2858=)
c.8508G>A (p.Arg2836=)
c.8571G>A (p.Arg2857=)
c.8568G>A (p.Arg2856=)
c.8514G>A (p.Arg2838=)
c.8484G>A (p.Arg2828=)
c.8439G>A (p.Arg2813=)
c.8034G>A (p.Arg2678=)
c.7392G>A (p.Arg2464=)
c.4902G>A (p.Arg1634=)
 dbSNP
10g.71807586G>CCA470282432CDH23c.8379G>C (p.Arg2793=)
c.2312G>C (n.2312G>C)
c.1976G>C (n.1976G>C)
c.8394G>C (p.Arg2798=)
c.1659G>C (p.Arg553=)
n.1915G>C
c.8574G>C (p.Arg2858=)
c.8508G>C (p.Arg2836=)
c.8571G>C (p.Arg2857=)
c.8568G>C (p.Arg2856=)
c.8514G>C (p.Arg2838=)
c.8484G>C (p.Arg2828=)
c.8439G>C (p.Arg2813=)
c.8034G>C (p.Arg2678=)
c.7392G>C (p.Arg2464=)
c.4902G>C (p.Arg1634=)
10g.71807586G>TCA470282430CDH23c.8379G>T (p.Arg2793=)
c.2312G>T (n.2312G>T)
c.1976G>T (n.1976G>T)
c.8394G>T (p.Arg2798=)
c.1659G>T (p.Arg553=)
n.1915G>T
c.8574G>T (p.Arg2858=)
c.8508G>T (p.Arg2836=)
c.8571G>T (p.Arg2857=)
c.8568G>T (p.Arg2856=)
c.8514G>T (p.Arg2838=)
c.8484G>T (p.Arg2828=)
c.8439G>T (p.Arg2813=)
c.8034G>T (p.Arg2678=)
c.7392G>T (p.Arg2464=)
c.4902G>T (p.Arg1634=)
10g.71807587G>ACA5546638CDH23c.8380G>A (p.Glu2794Lys)
c.2313G>A (n.2313G>A)
c.1977G>A (n.1977G>A)
c.8395G>A (p.Glu2799Lys)
c.1660G>A (p.Glu554Lys)
n.1916G>A
c.8575G>A (p.Glu2859Lys)
c.8509G>A (p.Glu2837Lys)
c.8572G>A (p.Glu2858Lys)
c.8569G>A (p.Glu2857Lys)
c.8515G>A (p.Glu2839Lys)
c.8485G>A (p.Glu2829Lys)
c.8440G>A (p.Glu2814Lys)
c.8035G>A (p.Glu2679Lys)
c.7393G>A (p.Glu2465Lys)
c.4903G>A (p.Glu1635Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807587G>CCA377131428CDH23c.8380G>C (p.Glu2794Gln)
c.2313G>C (n.2313G>C)
c.1977G>C (n.1977G>C)
c.8395G>C (p.Glu2799Gln)
c.1660G>C (p.Glu554Gln)
n.1916G>C
c.8575G>C (p.Glu2859Gln)
c.8509G>C (p.Glu2837Gln)
c.8572G>C (p.Glu2858Gln)
c.8569G>C (p.Glu2857Gln)
c.8515G>C (p.Glu2839Gln)
c.8485G>C (p.Glu2829Gln)
c.8440G>C (p.Glu2814Gln)
c.8035G>C (p.Glu2679Gln)
c.7393G>C (p.Glu2465Gln)
c.4903G>C (p.Glu1635Gln)
 gnomAD v4
10g.71807587G=CA1918886523CDH23c.8380G= (p.Glu2794=)
c.2313G= (n.2313G=)
c.1977G= (n.1977G=)
c.8395G= (p.Glu2799=)
c.1660G= (p.Glu554=)
n.1916G=
c.8575G= (p.Glu2859=)
c.8509G= (p.Glu2837=)
c.8572G= (p.Glu2858=)
c.8569G= (p.Glu2857=)
c.8515G= (p.Glu2839=)
c.8485G= (p.Glu2829=)
c.8440G= (p.Glu2814=)
c.8035G= (p.Glu2679=)
c.7393G= (p.Glu2465=)
c.4903G= (p.Glu1635=)
10g.71807587G>TCA377131429CDH23c.8380G>T (p.Glu2794Ter)
c.2313G>T (n.2313G>T)
c.1977G>T (n.1977G>T)
c.8395G>T (p.Glu2799Ter)
c.1660G>T (p.Glu554Ter)
n.1916G>T
c.8575G>T (p.Glu2859Ter)
c.8509G>T (p.Glu2837Ter)
c.8572G>T (p.Glu2858Ter)
c.8569G>T (p.Glu2857Ter)
c.8515G>T (p.Glu2839Ter)
c.8485G>T (p.Glu2829Ter)
c.8440G>T (p.Glu2814Ter)
c.8035G>T (p.Glu2679Ter)
c.7393G>T (p.Glu2465Ter)
c.4903G>T (p.Glu1635Ter)
10g.71807588A=CA1918886524CDH23c.8381A= (p.Glu2794=)
c.2314A= (n.2314A=)
c.1978A= (n.1978A=)
c.8396A= (p.Glu2799=)
c.1661A= (p.Glu554=)
n.1917A=
c.8576A= (p.Glu2859=)
c.8510A= (p.Glu2837=)
c.8573A= (p.Glu2858=)
c.8570A= (p.Glu2857=)
c.8516A= (p.Glu2839=)
c.8486A= (p.Glu2829=)
c.8441A= (p.Glu2814=)
c.8036A= (p.Glu2679=)
c.7394A= (p.Glu2465=)
c.4904A= (p.Glu1635=)
10g.71807588A>CCA377131430CDH23c.8381A>C (p.Glu2794Ala)
c.2314A>C (n.2314A>C)
c.1978A>C (n.1978A>C)
c.8396A>C (p.Glu2799Ala)
c.1661A>C (p.Glu554Ala)
n.1917A>C
c.8576A>C (p.Glu2859Ala)
c.8510A>C (p.Glu2837Ala)
c.8573A>C (p.Glu2858Ala)
c.8570A>C (p.Glu2857Ala)
c.8516A>C (p.Glu2839Ala)
c.8486A>C (p.Glu2829Ala)
c.8441A>C (p.Glu2814Ala)
c.8036A>C (p.Glu2679Ala)
c.7394A>C (p.Glu2465Ala)
c.4904A>C (p.Glu1635Ala)
10g.71807588A>GCA377131431CDH23c.8381A>G (p.Glu2794Gly)
c.2314A>G (n.2314A>G)
c.1978A>G (n.1978A>G)
c.8396A>G (p.Glu2799Gly)
c.1661A>G (p.Glu554Gly)
n.1917A>G
c.8576A>G (p.Glu2859Gly)
c.8510A>G (p.Glu2837Gly)
c.8573A>G (p.Glu2858Gly)
c.8570A>G (p.Glu2857Gly)
c.8516A>G (p.Glu2839Gly)
c.8486A>G (p.Glu2829Gly)
c.8441A>G (p.Glu2814Gly)
c.8036A>G (p.Glu2679Gly)
c.7394A>G (p.Glu2465Gly)
c.4904A>G (p.Glu1635Gly)
 dbSNP gnomAD v4
10g.71807588A>TCA377131432CDH23c.8381A>T (p.Glu2794Val)
c.2314A>T (n.2314A>T)
c.1978A>T (n.1978A>T)
c.8396A>T (p.Glu2799Val)
c.1661A>T (p.Glu554Val)
n.1917A>T
c.8576A>T (p.Glu2859Val)
c.8510A>T (p.Glu2837Val)
c.8573A>T (p.Glu2858Val)
c.8570A>T (p.Glu2857Val)
c.8516A>T (p.Glu2839Val)
c.8486A>T (p.Glu2829Val)
c.8441A>T (p.Glu2814Val)
c.8036A>T (p.Glu2679Val)
c.7394A>T (p.Glu2465Val)
c.4904A>T (p.Glu1635Val)
10g.71807589G>ACA470282433CDH23c.8382G>A (p.Glu2794=)
c.2315G>A (n.2315G>A)
c.1979G>A (n.1979G>A)
c.8397G>A (p.Glu2799=)
c.1662G>A (p.Glu554=)
n.1918G>A
c.8577G>A (p.Glu2859=)
c.8511G>A (p.Glu2837=)
c.8574G>A (p.Glu2858=)
c.8571G>A (p.Glu2857=)
c.8517G>A (p.Glu2839=)
c.8487G>A (p.Glu2829=)
c.8442G>A (p.Glu2814=)
c.8037G>A (p.Glu2679=)
c.7395G>A (p.Glu2465=)
c.4905G>A (p.Glu1635=)
 ClinVar dbSNP gnomAD v4
10g.71807589G>CCA377131433CDH23c.8382G>C (p.Glu2794Asp)
c.2315G>C (n.2315G>C)
c.1979G>C (n.1979G>C)
c.8397G>C (p.Glu2799Asp)
c.1662G>C (p.Glu554Asp)
n.1918G>C
c.8577G>C (p.Glu2859Asp)
c.8511G>C (p.Glu2837Asp)
c.8574G>C (p.Glu2858Asp)
c.8571G>C (p.Glu2857Asp)
c.8517G>C (p.Glu2839Asp)
c.8487G>C (p.Glu2829Asp)
c.8442G>C (p.Glu2814Asp)
c.8037G>C (p.Glu2679Asp)
c.7395G>C (p.Glu2465Asp)
c.4905G>C (p.Glu1635Asp)
10g.71807589G>TCA377131434CDH23c.8382G>T (p.Glu2794Asp)
c.2315G>T (n.2315G>T)
c.1979G>T (n.1979G>T)
c.8397G>T (p.Glu2799Asp)
c.1662G>T (p.Glu554Asp)
n.1918G>T
c.8577G>T (p.Glu2859Asp)
c.8511G>T (p.Glu2837Asp)
c.8574G>T (p.Glu2858Asp)
c.8571G>T (p.Glu2857Asp)
c.8517G>T (p.Glu2839Asp)
c.8487G>T (p.Glu2829Asp)
c.8442G>T (p.Glu2814Asp)
c.8037G>T (p.Glu2679Asp)
c.7395G>T (p.Glu2465Asp)
c.4905G>T (p.Glu1635Asp)
 ClinVar dbSNP
10g.71807590C>ACA470282434CDH23c.8383C>A (p.Arg2795=)
c.2316C>A (n.2316C>A)
c.1980C>A (n.1980C>A)
c.8398C>A (p.Arg2800=)
c.1663C>A (p.Arg555=)
n.1919C>A
c.8578C>A (p.Arg2860=)
c.8512C>A (p.Arg2838=)
c.8575C>A (p.Arg2859=)
c.8572C>A (p.Arg2858=)
c.8518C>A (p.Arg2840=)
c.8488C>A (p.Arg2830=)
c.8443C>A (p.Arg2815=)
c.8038C>A (p.Arg2680=)
c.7396C>A (p.Arg2466=)
c.4906C>A (p.Arg1636=)
 dbSNP
10g.71807590C=CA1918886526CDH23c.8383C= (p.Arg2795=)
c.2316C= (n.2316C=)
c.1980C= (n.1980C=)
c.8398C= (p.Arg2800=)
c.1663C= (p.Arg555=)
n.1919C=
c.8578C= (p.Arg2860=)
c.8512C= (p.Arg2838=)
c.8575C= (p.Arg2859=)
c.8572C= (p.Arg2858=)
c.8518C= (p.Arg2840=)
c.8488C= (p.Arg2830=)
c.8443C= (p.Arg2815=)
c.8038C= (p.Arg2680=)
c.7396C= (p.Arg2466=)
c.4906C= (p.Arg1636=)
10g.71807590C>GCA377131435CDH23c.8383C>G (p.Arg2795Gly)
c.2316C>G (n.2316C>G)
c.1980C>G (n.1980C>G)
c.8398C>G (p.Arg2800Gly)
c.1663C>G (p.Arg555Gly)
n.1919C>G
c.8578C>G (p.Arg2860Gly)
c.8512C>G (p.Arg2838Gly)
c.8575C>G (p.Arg2859Gly)
c.8572C>G (p.Arg2858Gly)
c.8518C>G (p.Arg2840Gly)
c.8488C>G (p.Arg2830Gly)
c.8443C>G (p.Arg2815Gly)
c.8038C>G (p.Arg2680Gly)
c.7396C>G (p.Arg2466Gly)
c.4906C>G (p.Arg1636Gly)
 dbSNP
10g.71807590C>TCA5546639CDH23c.8383C>T (p.Arg2795Ter)
c.2316C>T (n.2316C>T)
c.1980C>T (n.1980C>T)
c.8398C>T (p.Arg2800Ter)
c.1663C>T (p.Arg555Ter)
n.1919C>T
c.8578C>T (p.Arg2860Ter)
c.8512C>T (p.Arg2838Ter)
c.8575C>T (p.Arg2859Ter)
c.8572C>T (p.Arg2858Ter)
c.8518C>T (p.Arg2840Ter)
c.8488C>T (p.Arg2830Ter)
c.8443C>T (p.Arg2815Ter)
c.8038C>T (p.Arg2680Ter)
c.7396C>T (p.Arg2466Ter)
c.4906C>T (p.Arg1636Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807591G>ACA5546640CDH23c.8384G>A (p.Arg2795Gln)
c.2317G>A (n.2317G>A)
c.1981G>A (n.1981G>A)
c.8399G>A (p.Arg2800Gln)
c.1664G>A (p.Arg555Gln)
n.1920G>A
c.8579G>A (p.Arg2860Gln)
c.8513G>A (p.Arg2838Gln)
c.8576G>A (p.Arg2859Gln)
c.8573G>A (p.Arg2858Gln)
c.8519G>A (p.Arg2840Gln)
c.8489G>A (p.Arg2830Gln)
c.8444G>A (p.Arg2815Gln)
c.8039G>A (p.Arg2680Gln)
c.7397G>A (p.Arg2466Gln)
c.4907G>A (p.Arg1636Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807591G>CCA377131436CDH23c.8384G>C (p.Arg2795Pro)
c.2317G>C (n.2317G>C)
c.1981G>C (n.1981G>C)
c.8399G>C (p.Arg2800Pro)
c.1664G>C (p.Arg555Pro)
n.1920G>C
c.8579G>C (p.Arg2860Pro)
c.8513G>C (p.Arg2838Pro)
c.8576G>C (p.Arg2859Pro)
c.8573G>C (p.Arg2858Pro)
c.8519G>C (p.Arg2840Pro)
c.8489G>C (p.Arg2830Pro)
c.8444G>C (p.Arg2815Pro)
c.8039G>C (p.Arg2680Pro)
c.7397G>C (p.Arg2466Pro)
c.4907G>C (p.Arg1636Pro)
 gnomAD v4
10g.71807591G=CA1918886528CDH23c.8384G= (p.Arg2795=)
c.2317G= (n.2317G=)
c.1981G= (n.1981G=)
c.8399G= (p.Arg2800=)
c.1664G= (p.Arg555=)
n.1920G=
c.8579G= (p.Arg2860=)
c.8513G= (p.Arg2838=)
c.8576G= (p.Arg2859=)
c.8573G= (p.Arg2858=)
c.8519G= (p.Arg2840=)
c.8489G= (p.Arg2830=)
c.8444G= (p.Arg2815=)
c.8039G= (p.Arg2680=)
c.7397G= (p.Arg2466=)
c.4907G= (p.Arg1636=)
10g.71807591G>TCA377131437CDH23c.8384G>T (p.Arg2795Leu)
c.2317G>T (n.2317G>T)
c.1981G>T (n.1981G>T)
c.8399G>T (p.Arg2800Leu)
c.1664G>T (p.Arg555Leu)
n.1920G>T
c.8579G>T (p.Arg2860Leu)
c.8513G>T (p.Arg2838Leu)
c.8576G>T (p.Arg2859Leu)
c.8573G>T (p.Arg2858Leu)
c.8519G>T (p.Arg2840Leu)
c.8489G>T (p.Arg2830Leu)
c.8444G>T (p.Arg2815Leu)
c.8039G>T (p.Arg2680Leu)
c.7397G>T (p.Arg2466Leu)
c.4907G>T (p.Arg1636Leu)
10g.71807592A>CCA470282435CDH23c.8385A>C (p.Arg2795=)
c.2318A>C (n.2318A>C)
c.1982A>C (n.1982A>C)
c.8400A>C (p.Arg2800=)
c.1665A>C (p.Arg555=)
n.1921A>C
c.8580A>C (p.Arg2860=)
c.8514A>C (p.Arg2838=)
c.8577A>C (p.Arg2859=)
c.8574A>C (p.Arg2858=)
c.8520A>C (p.Arg2840=)
c.8490A>C (p.Arg2830=)
c.8445A>C (p.Arg2815=)
c.8040A>C (p.Arg2680=)
c.7398A>C (p.Arg2466=)
c.4908A>C (p.Arg1636=)
10g.71807592A>GCA470282436CDH23c.8385A>G (p.Arg2795=)
c.2318A>G (n.2318A>G)
c.1982A>G (n.1982A>G)
c.8400A>G (p.Arg2800=)
c.1665A>G (p.Arg555=)
n.1921A>G
c.8580A>G (p.Arg2860=)
c.8514A>G (p.Arg2838=)
c.8577A>G (p.Arg2859=)
c.8574A>G (p.Arg2858=)
c.8520A>G (p.Arg2840=)
c.8490A>G (p.Arg2830=)
c.8445A>G (p.Arg2815=)
c.8040A>G (p.Arg2680=)
c.7398A>G (p.Arg2466=)
c.4908A>G (p.Arg1636=)
10g.71807592A>TCA470282437CDH23c.8385A>T (p.Arg2795=)
c.2318A>T (n.2318A>T)
c.1982A>T (n.1982A>T)
c.8400A>T (p.Arg2800=)
c.1665A>T (p.Arg555=)
n.1921A>T
c.8580A>T (p.Arg2860=)
c.8514A>T (p.Arg2838=)
c.8577A>T (p.Arg2859=)
c.8574A>T (p.Arg2858=)
c.8520A>T (p.Arg2840=)
c.8490A>T (p.Arg2830=)
c.8445A>T (p.Arg2815=)
c.8040A>T (p.Arg2680=)
c.7398A>T (p.Arg2466=)
c.4908A>T (p.Arg1636=)
10g.71807593G>ACA377131438CDH23c.8386G>A (p.Glu2796Lys)
c.2319G>A (n.2319G>A)
c.1983G>A (n.1983G>A)
c.8401G>A (p.Glu2801Lys)
c.1666G>A (p.Glu556Lys)
n.1922G>A
c.8581G>A (p.Glu2861Lys)
c.8515G>A (p.Glu2839Lys)
c.8578G>A (p.Glu2860Lys)
c.8575G>A (p.Glu2859Lys)
c.8521G>A (p.Glu2841Lys)
c.8491G>A (p.Glu2831Lys)
c.8446G>A (p.Glu2816Lys)
c.8041G>A (p.Glu2681Lys)
c.7399G>A (p.Glu2467Lys)
c.4909G>A (p.Glu1637Lys)
10g.71807593G>CCA377131440CDH23c.8386G>C (p.Glu2796Gln)
c.2319G>C (n.2319G>C)
c.1983G>C (n.1983G>C)
c.8401G>C (p.Glu2801Gln)
c.1666G>C (p.Glu556Gln)
n.1922G>C
c.8581G>C (p.Glu2861Gln)
c.8515G>C (p.Glu2839Gln)
c.8578G>C (p.Glu2860Gln)
c.8575G>C (p.Glu2859Gln)
c.8521G>C (p.Glu2841Gln)
c.8491G>C (p.Glu2831Gln)
c.8446G>C (p.Glu2816Gln)
c.8041G>C (p.Glu2681Gln)
c.7399G>C (p.Glu2467Gln)
c.4909G>C (p.Glu1637Gln)
10g.71807593G>TCA377131439CDH23c.8386G>T (p.Glu2796Ter)
c.2319G>T (n.2319G>T)
c.1983G>T (n.1983G>T)
c.8401G>T (p.Glu2801Ter)
c.1666G>T (p.Glu556Ter)
n.1922G>T
c.8581G>T (p.Glu2861Ter)
c.8515G>T (p.Glu2839Ter)
c.8578G>T (p.Glu2860Ter)
c.8575G>T (p.Glu2859Ter)
c.8521G>T (p.Glu2841Ter)
c.8491G>T (p.Glu2831Ter)
c.8446G>T (p.Glu2816Ter)
c.8041G>T (p.Glu2681Ter)
c.7399G>T (p.Glu2467Ter)
c.4909G>T (p.Glu1637Ter)
10g.71807594A=CA1918886530CDH23c.8387A= (p.Glu2796=)
c.2320A= (n.2320A=)
c.1984A= (n.1984A=)
c.8402A= (p.Glu2801=)
c.1667A= (p.Glu556=)
n.1923A=
c.8582A= (p.Glu2861=)
c.8516A= (p.Glu2839=)
c.8579A= (p.Glu2860=)
c.8576A= (p.Glu2859=)
c.8522A= (p.Glu2841=)
c.8492A= (p.Glu2831=)
c.8447A= (p.Glu2816=)
c.8042A= (p.Glu2681=)
c.7400A= (p.Glu2467=)
c.4910A= (p.Glu1637=)
10g.71807594A>CCA377131441CDH23c.8387A>C (p.Glu2796Ala)
c.2320A>C (n.2320A>C)
c.1984A>C (n.1984A>C)
c.8402A>C (p.Glu2801Ala)
c.1667A>C (p.Glu556Ala)
n.1923A>C
c.8582A>C (p.Glu2861Ala)
c.8516A>C (p.Glu2839Ala)
c.8579A>C (p.Glu2860Ala)
c.8576A>C (p.Glu2859Ala)
c.8522A>C (p.Glu2841Ala)
c.8492A>C (p.Glu2831Ala)
c.8447A>C (p.Glu2816Ala)
c.8042A>C (p.Glu2681Ala)
c.7400A>C (p.Glu2467Ala)
c.4910A>C (p.Glu1637Ala)
 dbSNP
10g.71807594A>GCA377131442CDH23c.8387A>G (p.Glu2796Gly)
c.2320A>G (n.2320A>G)
c.1984A>G (n.1984A>G)
c.8402A>G (p.Glu2801Gly)
c.1667A>G (p.Glu556Gly)
n.1923A>G
c.8582A>G (p.Glu2861Gly)
c.8516A>G (p.Glu2839Gly)
c.8579A>G (p.Glu2860Gly)
c.8576A>G (p.Glu2859Gly)
c.8522A>G (p.Glu2841Gly)
c.8492A>G (p.Glu2831Gly)
c.8447A>G (p.Glu2816Gly)
c.8042A>G (p.Glu2681Gly)
c.7400A>G (p.Glu2467Gly)
c.4910A>G (p.Glu1637Gly)
 gnomAD v4
10g.71807594A>TCA377131443CDH23c.8387A>T (p.Glu2796Val)
c.2320A>T (n.2320A>T)
c.1984A>T (n.1984A>T)
c.8402A>T (p.Glu2801Val)
c.1667A>T (p.Glu556Val)
n.1923A>T
c.8582A>T (p.Glu2861Val)
c.8516A>T (p.Glu2839Val)
c.8579A>T (p.Glu2860Val)
c.8576A>T (p.Glu2859Val)
c.8522A>T (p.Glu2841Val)
c.8492A>T (p.Glu2831Val)
c.8447A>T (p.Glu2816Val)
c.8042A>T (p.Glu2681Val)
c.7400A>T (p.Glu2467Val)
c.4910A>T (p.Glu1637Val)
10g.71807595A>CCA377131444CDH23c.8388A>C (p.Glu2796Asp)
c.2321A>C (n.2321A>C)
c.1985A>C (n.1985A>C)
c.8403A>C (p.Glu2801Asp)
c.1668A>C (p.Glu556Asp)
n.1924A>C
c.8583A>C (p.Glu2861Asp)
c.8517A>C (p.Glu2839Asp)
c.8580A>C (p.Glu2860Asp)
c.8577A>C (p.Glu2859Asp)
c.8523A>C (p.Glu2841Asp)
c.8493A>C (p.Glu2831Asp)
c.8448A>C (p.Glu2816Asp)
c.8043A>C (p.Glu2681Asp)
c.7401A>C (p.Glu2467Asp)
c.4911A>C (p.Glu1637Asp)
10g.71807595A>GCA470282438CDH23c.8388A>G (p.Glu2796=)
c.2321A>G (n.2321A>G)
c.1985A>G (n.1985A>G)
c.8403A>G (p.Glu2801=)
c.1668A>G (p.Glu556=)
n.1924A>G
c.8583A>G (p.Glu2861=)
c.8517A>G (p.Glu2839=)
c.8580A>G (p.Glu2860=)
c.8577A>G (p.Glu2859=)
c.8523A>G (p.Glu2841=)
c.8493A>G (p.Glu2831=)
c.8448A>G (p.Glu2816=)
c.8043A>G (p.Glu2681=)
c.7401A>G (p.Glu2467=)
c.4911A>G (p.Glu1637=)
10g.71807595A>TCA377131445CDH23c.8388A>T (p.Glu2796Asp)
c.2321A>T (n.2321A>T)
c.1985A>T (n.1985A>T)
c.8403A>T (p.Glu2801Asp)
c.1668A>T (p.Glu556Asp)
n.1924A>T
c.8583A>T (p.Glu2861Asp)
c.8517A>T (p.Glu2839Asp)
c.8580A>T (p.Glu2860Asp)
c.8577A>T (p.Glu2859Asp)
c.8523A>T (p.Glu2841Asp)
c.8493A>T (p.Glu2831Asp)
c.8448A>T (p.Glu2816Asp)
c.8043A>T (p.Glu2681Asp)
c.7401A>T (p.Glu2467Asp)
c.4911A>T (p.Glu1637Asp)
10g.71807596G>ACA5546641CDH23c.8389G>A (p.Ala2797Thr)
c.2322G>A (n.2322G>A)
c.1986G>A (n.1986G>A)
c.8404G>A (p.Ala2802Thr)
c.1669G>A (p.Ala557Thr)
n.1925G>A
c.8584G>A (p.Ala2862Thr)
c.8518G>A (p.Ala2840Thr)
c.8581G>A (p.Ala2861Thr)
c.8578G>A (p.Ala2860Thr)
c.8524G>A (p.Ala2842Thr)
c.8494G>A (p.Ala2832Thr)
c.8449G>A (p.Ala2817Thr)
c.8044G>A (p.Ala2682Thr)
c.7402G>A (p.Ala2468Thr)
c.4912G>A (p.Ala1638Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807596G>CCA377131446CDH23c.8389G>C (p.Ala2797Pro)
c.2322G>C (n.2322G>C)
c.1986G>C (n.1986G>C)
c.8404G>C (p.Ala2802Pro)
c.1669G>C (p.Ala557Pro)
n.1925G>C
c.8584G>C (p.Ala2862Pro)
c.8518G>C (p.Ala2840Pro)
c.8581G>C (p.Ala2861Pro)
c.8578G>C (p.Ala2860Pro)
c.8524G>C (p.Ala2842Pro)
c.8494G>C (p.Ala2832Pro)
c.8449G>C (p.Ala2817Pro)
c.8044G>C (p.Ala2682Pro)
c.7402G>C (p.Ala2468Pro)
c.4912G>C (p.Ala1638Pro)
10g.71807596G=CA1918886532CDH23c.8389G= (p.Ala2797=)
c.2322G= (n.2322G=)
c.1986G= (n.1986G=)
c.8404G= (p.Ala2802=)
c.1669G= (p.Ala557=)
n.1925G=
c.8584G= (p.Ala2862=)
c.8518G= (p.Ala2840=)
c.8581G= (p.Ala2861=)
c.8578G= (p.Ala2860=)
c.8524G= (p.Ala2842=)
c.8494G= (p.Ala2832=)
c.8449G= (p.Ala2817=)
c.8044G= (p.Ala2682=)
c.7402G= (p.Ala2468=)
c.4912G= (p.Ala1638=)
10g.71807596G>TCA377131447CDH23c.8389G>T (p.Ala2797Ser)
c.2322G>T (n.2322G>T)
c.1986G>T (n.1986G>T)
c.8404G>T (p.Ala2802Ser)
c.1669G>T (p.Ala557Ser)
n.1925G>T
c.8584G>T (p.Ala2862Ser)
c.8518G>T (p.Ala2840Ser)
c.8581G>T (p.Ala2861Ser)
c.8578G>T (p.Ala2860Ser)
c.8524G>T (p.Ala2842Ser)
c.8494G>T (p.Ala2832Ser)
c.8449G>T (p.Ala2817Ser)
c.8044G>T (p.Ala2682Ser)
c.7402G>T (p.Ala2468Ser)
c.4912G>T (p.Ala1638Ser)
10g.71807597C>ACA377131448CDH23c.8390C>A (p.Ala2797Asp)
c.2323C>A (n.2323C>A)
c.1987C>A (n.1987C>A)
c.8405C>A (p.Ala2802Asp)
c.1670C>A (p.Ala557Asp)
n.1926C>A
c.8585C>A (p.Ala2862Asp)
c.8519C>A (p.Ala2840Asp)
c.8582C>A (p.Ala2861Asp)
c.8579C>A (p.Ala2860Asp)
c.8525C>A (p.Ala2842Asp)
c.8495C>A (p.Ala2832Asp)
c.8450C>A (p.Ala2817Asp)
c.8045C>A (p.Ala2682Asp)
c.7403C>A (p.Ala2468Asp)
c.4913C>A (p.Ala1638Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.71807597C=CA1918886533CDH23c.8390C= (p.Ala2797=)
c.2323C= (n.2323C=)
c.1987C= (n.1987C=)
c.8405C= (p.Ala2802=)
c.1670C= (p.Ala557=)
n.1926C=
c.8585C= (p.Ala2862=)
c.8519C= (p.Ala2840=)
c.8582C= (p.Ala2861=)
c.8579C= (p.Ala2860=)
c.8525C= (p.Ala2842=)
c.8495C= (p.Ala2832=)
c.8450C= (p.Ala2817=)
c.8045C= (p.Ala2682=)
c.7403C= (p.Ala2468=)
c.4913C= (p.Ala1638=)
10g.71807597C>GCA377131449CDH23c.8390C>G (p.Ala2797Gly)
c.2323C>G (n.2323C>G)
c.1987C>G (n.1987C>G)
c.8405C>G (p.Ala2802Gly)
c.1670C>G (p.Ala557Gly)
n.1926C>G
c.8585C>G (p.Ala2862Gly)
c.8519C>G (p.Ala2840Gly)
c.8582C>G (p.Ala2861Gly)
c.8579C>G (p.Ala2860Gly)
c.8525C>G (p.Ala2842Gly)
c.8495C>G (p.Ala2832Gly)
c.8450C>G (p.Ala2817Gly)
c.8045C>G (p.Ala2682Gly)
c.7403C>G (p.Ala2468Gly)
c.4913C>G (p.Ala1638Gly)
 dbSNP
10g.71807597C>TCA209437060CDH23c.8390C>T (p.Ala2797Val)
c.2323C>T (n.2323C>T)
c.1987C>T (n.1987C>T)
c.8405C>T (p.Ala2802Val)
c.1670C>T (p.Ala557Val)
n.1926C>T
c.8585C>T (p.Ala2862Val)
c.8519C>T (p.Ala2840Val)
c.8582C>T (p.Ala2861Val)
c.8579C>T (p.Ala2860Val)
c.8525C>T (p.Ala2842Val)
c.8495C>T (p.Ala2832Val)
c.8450C>T (p.Ala2817Val)
c.8045C>T (p.Ala2682Val)
c.7403C>T (p.Ala2468Val)
c.4913C>T (p.Ala1638Val)
 dbSNP gnomAD v4
10g.71807599_71807607delCA2609586284CDH23c.8392_8400del (p.Ile2798_Ser2800del)
c.2325_2333del (n.2325_2333del)
c.1989_1997del (n.1989_1997del)
c.8407_8415del (p.Ile2803_Ser2805del)
c.1672_1680del (p.Ile558_Ser560del)
n.1928_1936del
c.8587_8595del (p.Ile2863_Ser2865del)
c.8521_8529del (p.Ile2841_Ser2843del)
c.8584_8592del (p.Ile2862_Ser2864del)
c.8581_8589del (p.Ile2861_Ser2863del)
c.8527_8535del (p.Ile2843_Ser2845del)
c.8497_8505del (p.Ile2833_Ser2835del)
c.8452_8460del (p.Ile2818_Ser2820del)
c.8047_8055del (p.Ile2683_Ser2685del)
c.7405_7413del (p.Ile2469_Ser2471del)
c.4915_4923del (p.Ile1639_Ser1641del)
 gnomAD v4
10g.71807598C>ACA470282439CDH23c.8391C>A (p.Ala2797=)
c.2324C>A (n.2324C>A)
c.1988C>A (n.1988C>A)
c.8406C>A (p.Ala2802=)
c.1671C>A (p.Ala557=)
n.1927C>A
c.8586C>A (p.Ala2862=)
c.8520C>A (p.Ala2840=)
c.8583C>A (p.Ala2861=)
c.8580C>A (p.Ala2860=)
c.8526C>A (p.Ala2842=)
c.8496C>A (p.Ala2832=)
c.8451C>A (p.Ala2817=)
c.8046C>A (p.Ala2682=)
c.7404C>A (p.Ala2468=)
c.4914C>A (p.Ala1638=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71807598C=CA1918886535CDH23c.8391C= (p.Ala2797=)
c.2324C= (n.2324C=)
c.1988C= (n.1988C=)
c.8406C= (p.Ala2802=)
c.1671C= (p.Ala557=)
n.1927C=
c.8586C= (p.Ala2862=)
c.8520C= (p.Ala2840=)
c.8583C= (p.Ala2861=)
c.8580C= (p.Ala2860=)
c.8526C= (p.Ala2842=)
c.8496C= (p.Ala2832=)
c.8451C= (p.Ala2817=)
c.8046C= (p.Ala2682=)
c.7404C= (p.Ala2468=)
c.4914C= (p.Ala1638=)
10g.71807598C>GCA470282440CDH23c.8391C>G (p.Ala2797=)
c.2324C>G (n.2324C>G)
c.1988C>G (n.1988C>G)
c.8406C>G (p.Ala2802=)
c.1671C>G (p.Ala557=)
n.1927C>G
c.8586C>G (p.Ala2862=)
c.8520C>G (p.Ala2840=)
c.8583C>G (p.Ala2861=)
c.8580C>G (p.Ala2860=)
c.8526C>G (p.Ala2842=)
c.8496C>G (p.Ala2832=)
c.8451C>G (p.Ala2817=)
c.8046C>G (p.Ala2682=)
c.7404C>G (p.Ala2468=)
c.4914C>G (p.Ala1638=)
 dbSNP
10g.71807598C>TCA470282441CDH23c.8391C>T (p.Ala2797=)
c.2324C>T (n.2324C>T)
c.1988C>T (n.1988C>T)
c.8406C>T (p.Ala2802=)
c.1671C>T (p.Ala557=)
n.1927C>T
c.8586C>T (p.Ala2862=)
c.8520C>T (p.Ala2840=)
c.8583C>T (p.Ala2861=)
c.8580C>T (p.Ala2860=)
c.8526C>T (p.Ala2842=)
c.8496C>T (p.Ala2832=)
c.8451C>T (p.Ala2817=)
c.8046C>T (p.Ala2682=)
c.7404C>T (p.Ala2468=)
c.4914C>T (p.Ala1638=)
 dbSNP
10g.71807599A>CCA377131452CDH23c.8392A>C (p.Ile2798Leu)
c.2325A>C (n.2325A>C)
c.1989A>C (n.1989A>C)
c.8407A>C (p.Ile2803Leu)
c.1672A>C (p.Ile558Leu)
n.1928A>C
c.8587A>C (p.Ile2863Leu)
c.8521A>C (p.Ile2841Leu)
c.8584A>C (p.Ile2862Leu)
c.8581A>C (p.Ile2861Leu)
c.8527A>C (p.Ile2843Leu)
c.8497A>C (p.Ile2833Leu)
c.8452A>C (p.Ile2818Leu)
c.8047A>C (p.Ile2683Leu)
c.7405A>C (p.Ile2469Leu)
c.4915A>C (p.Ile1639Leu)
10g.71807599A>GCA377131451CDH23c.8392A>G (p.Ile2798Val)
c.2325A>G (n.2325A>G)
c.1989A>G (n.1989A>G)
c.8407A>G (p.Ile2803Val)
c.1672A>G (p.Ile558Val)
n.1928A>G
c.8587A>G (p.Ile2863Val)
c.8521A>G (p.Ile2841Val)
c.8584A>G (p.Ile2862Val)
c.8581A>G (p.Ile2861Val)
c.8527A>G (p.Ile2843Val)
c.8497A>G (p.Ile2833Val)
c.8452A>G (p.Ile2818Val)
c.8047A>G (p.Ile2683Val)
c.7405A>G (p.Ile2469Val)
c.4915A>G (p.Ile1639Val)
 gnomAD v4
10g.71807599A>TCA377131450CDH23c.8392A>T (p.Ile2798Phe)
c.2325A>T (n.2325A>T)
c.1989A>T (n.1989A>T)
c.8407A>T (p.Ile2803Phe)
c.1672A>T (p.Ile558Phe)
n.1928A>T
c.8587A>T (p.Ile2863Phe)
c.8521A>T (p.Ile2841Phe)
c.8584A>T (p.Ile2862Phe)
c.8581A>T (p.Ile2861Phe)
c.8527A>T (p.Ile2843Phe)
c.8497A>T (p.Ile2833Phe)
c.8452A>T (p.Ile2818Phe)
c.8047A>T (p.Ile2683Phe)
c.7405A>T (p.Ile2469Phe)
c.4915A>T (p.Ile1639Phe)
10g.71807600T>ACA377131453CDH23c.8393T>A (p.Ile2798Asn)
c.2326T>A (n.2326T>A)
c.1990T>A (n.1990T>A)
c.8408T>A (p.Ile2803Asn)
c.1673T>A (p.Ile558Asn)
n.1929T>A
c.8588T>A (p.Ile2863Asn)
c.8522T>A (p.Ile2841Asn)
c.8585T>A (p.Ile2862Asn)
c.8582T>A (p.Ile2861Asn)
c.8528T>A (p.Ile2843Asn)
c.8498T>A (p.Ile2833Asn)
c.8453T>A (p.Ile2818Asn)
c.8048T>A (p.Ile2683Asn)
c.7406T>A (p.Ile2469Asn)
c.4916T>A (p.Ile1639Asn)
10g.71807600T>CCA377131454CDH23c.8393T>C (p.Ile2798Thr)
c.2326T>C (n.2326T>C)
c.1990T>C (n.1990T>C)
c.8408T>C (p.Ile2803Thr)
c.1673T>C (p.Ile558Thr)
n.1929T>C
c.8588T>C (p.Ile2863Thr)
c.8522T>C (p.Ile2841Thr)
c.8585T>C (p.Ile2862Thr)
c.8582T>C (p.Ile2861Thr)
c.8528T>C (p.Ile2843Thr)
c.8498T>C (p.Ile2833Thr)
c.8453T>C (p.Ile2818Thr)
c.8048T>C (p.Ile2683Thr)
c.7406T>C (p.Ile2469Thr)
c.4916T>C (p.Ile1639Thr)
10g.71807600T>GCA377131455CDH23c.8393T>G (p.Ile2798Ser)
c.2326T>G (n.2326T>G)
c.1990T>G (n.1990T>G)
c.8408T>G (p.Ile2803Ser)
c.1673T>G (p.Ile558Ser)
n.1929T>G
c.8588T>G (p.Ile2863Ser)
c.8522T>G (p.Ile2841Ser)
c.8585T>G (p.Ile2862Ser)
c.8582T>G (p.Ile2861Ser)
c.8528T>G (p.Ile2843Ser)
c.8498T>G (p.Ile2833Ser)
c.8453T>G (p.Ile2818Ser)
c.8048T>G (p.Ile2683Ser)
c.7406T>G (p.Ile2469Ser)
c.4916T>G (p.Ile1639Ser)
10g.71807603_71807605delCA2574575683CDH23c.8396_8398del (p.Phe2799del)
c.2329_2331del (n.2329_2331del)
c.1993_1995del (n.1993_1995del)
c.8411_8413del (p.Phe2804del)
c.1676_1678del (p.Phe559del)
n.1932_1934del
c.8591_8593del (p.Phe2864del)
c.8525_8527del (p.Phe2842del)
c.8588_8590del (p.Phe2863del)
c.8585_8587del (p.Phe2862del)
c.8531_8533del (p.Phe2844del)
c.8501_8503del (p.Phe2834del)
c.8456_8458del (p.Phe2819del)
c.8051_8053del (p.Phe2684del)
c.7409_7411del (p.Phe2470del)
c.4919_4921del (p.Phe1640del)
 gnomAD v4
10g.71807601C>ACA470282442CDH23c.8394C>A (p.Ile2798=)
c.2327C>A (n.2327C>A)
c.1991C>A (n.1991C>A)
c.8409C>A (p.Ile2803=)
c.1674C>A (p.Ile558=)
n.1930C>A
c.8589C>A (p.Ile2863=)
c.8523C>A (p.Ile2841=)
c.8586C>A (p.Ile2862=)
c.8583C>A (p.Ile2861=)
c.8529C>A (p.Ile2843=)
c.8499C>A (p.Ile2833=)
c.8454C>A (p.Ile2818=)
c.8049C>A (p.Ile2683=)
c.7407C>A (p.Ile2469=)
c.4917C>A (p.Ile1639=)
10g.71807601C=CA1918886537CDH23c.8394C= (p.Ile2798=)
c.2327C= (n.2327C=)
c.1991C= (n.1991C=)
c.8409C= (p.Ile2803=)
c.1674C= (p.Ile558=)
n.1930C=
c.8589C= (p.Ile2863=)
c.8523C= (p.Ile2841=)
c.8586C= (p.Ile2862=)
c.8583C= (p.Ile2861=)
c.8529C= (p.Ile2843=)
c.8499C= (p.Ile2833=)
c.8454C= (p.Ile2818=)
c.8049C= (p.Ile2683=)
c.7407C= (p.Ile2469=)
c.4917C= (p.Ile1639=)
10g.71807601C>GCA5546642CDH23c.8394C>G (p.Ile2798Met)
c.2327C>G (n.2327C>G)
c.1991C>G (n.1991C>G)
c.8409C>G (p.Ile2803Met)
c.1674C>G (p.Ile558Met)
n.1930C>G
c.8589C>G (p.Ile2863Met)
c.8523C>G (p.Ile2841Met)
c.8586C>G (p.Ile2862Met)
c.8583C>G (p.Ile2861Met)
c.8529C>G (p.Ile2843Met)
c.8499C>G (p.Ile2833Met)
c.8454C>G (p.Ile2818Met)
c.8049C>G (p.Ile2683Met)
c.7407C>G (p.Ile2469Met)
c.4917C>G (p.Ile1639Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807601C>TCA470282443CDH23c.8394C>T (p.Ile2798=)
c.2327C>T (n.2327C>T)
c.1991C>T (n.1991C>T)
c.8409C>T (p.Ile2803=)
c.1674C>T (p.Ile558=)
n.1930C>T
c.8589C>T (p.Ile2863=)
c.8523C>T (p.Ile2841=)
c.8586C>T (p.Ile2862=)
c.8583C>T (p.Ile2861=)
c.8529C>T (p.Ile2843=)
c.8499C>T (p.Ile2833=)
c.8454C>T (p.Ile2818=)
c.8049C>T (p.Ile2683=)
c.7407C>T (p.Ile2469=)
c.4917C>T (p.Ile1639=)
 gnomAD v4
10g.71807602T>ACA377131456CDH23c.8395T>A (p.Phe2799Ile)
c.2328T>A (n.2328T>A)
c.1992T>A (n.1992T>A)
c.8410T>A (p.Phe2804Ile)
c.1675T>A (p.Phe559Ile)
n.1931T>A
c.8590T>A (p.Phe2864Ile)
c.8524T>A (p.Phe2842Ile)
c.8587T>A (p.Phe2863Ile)
c.8584T>A (p.Phe2862Ile)
c.8530T>A (p.Phe2844Ile)
c.8500T>A (p.Phe2834Ile)
c.8455T>A (p.Phe2819Ile)
c.8050T>A (p.Phe2684Ile)
c.7408T>A (p.Phe2470Ile)
c.4918T>A (p.Phe1640Ile)
10g.71807602T>CCA377131457CDH23c.8395T>C (p.Phe2799Leu)
c.2328T>C (n.2328T>C)
c.1992T>C (n.1992T>C)
c.8410T>C (p.Phe2804Leu)
c.1675T>C (p.Phe559Leu)
n.1931T>C
c.8590T>C (p.Phe2864Leu)
c.8524T>C (p.Phe2842Leu)
c.8587T>C (p.Phe2863Leu)
c.8584T>C (p.Phe2862Leu)
c.8530T>C (p.Phe2844Leu)
c.8500T>C (p.Phe2834Leu)
c.8455T>C (p.Phe2819Leu)
c.8050T>C (p.Phe2684Leu)
c.7408T>C (p.Phe2470Leu)
c.4918T>C (p.Phe1640Leu)
10g.71807602T>GCA377131458CDH23c.8395T>G (p.Phe2799Val)
c.2328T>G (n.2328T>G)
c.1992T>G (n.1992T>G)
c.8410T>G (p.Phe2804Val)
c.1675T>G (p.Phe559Val)
n.1931T>G
c.8590T>G (p.Phe2864Val)
c.8524T>G (p.Phe2842Val)
c.8587T>G (p.Phe2863Val)
c.8584T>G (p.Phe2862Val)
c.8530T>G (p.Phe2844Val)
c.8500T>G (p.Phe2834Val)
c.8455T>G (p.Phe2819Val)
c.8050T>G (p.Phe2684Val)
c.7408T>G (p.Phe2470Val)
c.4918T>G (p.Phe1640Val)
10g.71807603T>ACA377131459CDH23c.8396T>A (p.Phe2799Tyr)
c.2329T>A (n.2329T>A)
c.1993T>A (n.1993T>A)
c.8411T>A (p.Phe2804Tyr)
c.1676T>A (p.Phe559Tyr)
n.1932T>A
c.8591T>A (p.Phe2864Tyr)
c.8525T>A (p.Phe2842Tyr)
c.8588T>A (p.Phe2863Tyr)
c.8585T>A (p.Phe2862Tyr)
c.8531T>A (p.Phe2844Tyr)
c.8501T>A (p.Phe2834Tyr)
c.8456T>A (p.Phe2819Tyr)
c.8051T>A (p.Phe2684Tyr)
c.7409T>A (p.Phe2470Tyr)
c.4919T>A (p.Phe1640Tyr)
10g.71807603T>CCA377131460CDH23c.8396T>C (p.Phe2799Ser)
c.2329T>C (n.2329T>C)
c.1993T>C (n.1993T>C)
c.8411T>C (p.Phe2804Ser)
c.1676T>C (p.Phe559Ser)
n.1932T>C
c.8591T>C (p.Phe2864Ser)
c.8525T>C (p.Phe2842Ser)
c.8588T>C (p.Phe2863Ser)
c.8585T>C (p.Phe2862Ser)
c.8531T>C (p.Phe2844Ser)
c.8501T>C (p.Phe2834Ser)
c.8456T>C (p.Phe2819Ser)
c.8051T>C (p.Phe2684Ser)
c.7409T>C (p.Phe2470Ser)
c.4919T>C (p.Phe1640Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.71807603T>GCA377131461CDH23c.8396T>G (p.Phe2799Cys)
c.2329T>G (n.2329T>G)
c.1993T>G (n.1993T>G)
c.8411T>G (p.Phe2804Cys)
c.1676T>G (p.Phe559Cys)
n.1932T>G
c.8591T>G (p.Phe2864Cys)
c.8525T>G (p.Phe2842Cys)
c.8588T>G (p.Phe2863Cys)
c.8585T>G (p.Phe2862Cys)
c.8531T>G (p.Phe2844Cys)
c.8501T>G (p.Phe2834Cys)
c.8456T>G (p.Phe2819Cys)
c.8051T>G (p.Phe2684Cys)
c.7409T>G (p.Phe2470Cys)
c.4919T>G (p.Phe1640Cys)
10g.71807603T=CA1918886540CDH23c.8396T= (p.Phe2799=)
c.2329T= (n.2329T=)
c.1993T= (n.1993T=)
c.8411T= (p.Phe2804=)
c.1676T= (p.Phe559=)
n.1932T=
c.8591T= (p.Phe2864=)
c.8525T= (p.Phe2842=)
c.8588T= (p.Phe2863=)
c.8585T= (p.Phe2862=)
c.8531T= (p.Phe2844=)
c.8501T= (p.Phe2834=)
c.8456T= (p.Phe2819=)
c.8051T= (p.Phe2684=)
c.7409T= (p.Phe2470=)
c.4919T= (p.Phe1640=)
10g.71807603_71807606delinsTCTCCA1918886539CDH23c.8396_8399delinsTCTC (p.Phe2799=)
c.2329_2332delinsTCTC (n.2329_2332delinsTCTC)
c.1993_1996delinsTCTC (n.1993_1996delinsTCTC)
c.8411_8414delinsTCTC (p.Phe2804=)
c.1676_1679delinsTCTC (p.Phe559=)
n.1932_1935delinsTCTC
c.8591_8594delinsTCTC (p.Phe2864=)
c.8525_8528delinsTCTC (p.Phe2842=)
c.8588_8591delinsTCTC (p.Phe2863=)
c.8585_8588delinsTCTC (p.Phe2862=)
c.8531_8534delinsTCTC (p.Phe2844=)
c.8501_8504delinsTCTC (p.Phe2834=)
c.8456_8459delinsTCTC (p.Phe2819=)
c.8051_8054delinsTCTC (p.Phe2684=)
c.7409_7412delinsTCTC (p.Phe2470=)
c.4919_4922delinsTCTC (p.Phe1640=)
10g.71807604C>ACA377131462CDH23c.8397C>A (p.Phe2799Leu)
c.2330C>A (n.2330C>A)
c.1994C>A (n.1994C>A)
c.8412C>A (p.Phe2804Leu)
c.1677C>A (p.Phe559Leu)
n.1933C>A
c.8592C>A (p.Phe2864Leu)
c.8526C>A (p.Phe2842Leu)
c.8589C>A (p.Phe2863Leu)
c.8586C>A (p.Phe2862Leu)
c.8532C>A (p.Phe2844Leu)
c.8502C>A (p.Phe2834Leu)
c.8457C>A (p.Phe2819Leu)
c.8052C>A (p.Phe2684Leu)
c.7410C>A (p.Phe2470Leu)
c.4920C>A (p.Phe1640Leu)
 dbSNP
10g.71807604C>GCA377131463CDH23c.8397C>G (p.Phe2799Leu)
c.2330C>G (n.2330C>G)
c.1994C>G (n.1994C>G)
c.8412C>G (p.Phe2804Leu)
c.1677C>G (p.Phe559Leu)
n.1933C>G
c.8592C>G (p.Phe2864Leu)
c.8526C>G (p.Phe2842Leu)
c.8589C>G (p.Phe2863Leu)
c.8586C>G (p.Phe2862Leu)
c.8532C>G (p.Phe2844Leu)
c.8502C>G (p.Phe2834Leu)
c.8457C>G (p.Phe2819Leu)
c.8052C>G (p.Phe2684Leu)
c.7410C>G (p.Phe2470Leu)
c.4920C>G (p.Phe1640Leu)
10g.71807604C>TCA470282446CDH23c.8397C>T (p.Phe2799=)
c.2330C>T (n.2330C>T)
c.1994C>T (n.1994C>T)
c.8412C>T (p.Phe2804=)
c.1677C>T (p.Phe559=)
n.1933C>T
c.8592C>T (p.Phe2864=)
c.8526C>T (p.Phe2842=)
c.8589C>T (p.Phe2863=)
c.8586C>T (p.Phe2862=)
c.8532C>T (p.Phe2844=)
c.8502C>T (p.Phe2834=)
c.8457C>T (p.Phe2819=)
c.8052C>T (p.Phe2684=)
c.7410C>T (p.Phe2470=)
c.4920C>T (p.Phe1640=)
10g.71807606_71807608delCA668120291CDH23c.8399_8401del (p.Ser2800del)
c.2332_2334del (n.2332_2334del)
c.1996_1998del (n.1996_1998del)
c.8414_8416del (p.Ser2805del)
c.1679_1681del (p.Ser560del)
n.1935_1937del
c.8594_8596del (p.Ser2865del)
c.8528_8530del (p.Ser2843del)
c.8591_8593del (p.Ser2864del)
c.8588_8590del (p.Ser2863del)
c.8534_8536del (p.Ser2845del)
c.8504_8506del (p.Ser2835del)
c.8459_8461del (p.Ser2820del)
c.8054_8056del (p.Ser2685del)
c.7412_7414del (p.Ser2471del)
c.4922_4924del (p.Ser1641del)
 dbSNP gnomAD v3 gnomAD v4
10g.71807605T>ACA377131466CDH23c.8398T>A (p.Ser2800Thr)
c.2331T>A (n.2331T>A)
c.1995T>A (n.1995T>A)
c.8413T>A (p.Ser2805Thr)
c.1678T>A (p.Ser560Thr)
n.1934T>A
c.8593T>A (p.Ser2865Thr)
c.8527T>A (p.Ser2843Thr)
c.8590T>A (p.Ser2864Thr)
c.8587T>A (p.Ser2863Thr)
c.8533T>A (p.Ser2845Thr)
c.8503T>A (p.Ser2835Thr)
c.8458T>A (p.Ser2820Thr)
c.8053T>A (p.Ser2685Thr)
c.7411T>A (p.Ser2471Thr)
c.4921T>A (p.Ser1641Thr)
10g.71807605T>CCA377131465CDH23c.8398T>C (p.Ser2800Pro)
c.2331T>C (n.2331T>C)
c.1995T>C (n.1995T>C)
c.8413T>C (p.Ser2805Pro)
c.1678T>C (p.Ser560Pro)
n.1934T>C
c.8593T>C (p.Ser2865Pro)
c.8527T>C (p.Ser2843Pro)
c.8590T>C (p.Ser2864Pro)
c.8587T>C (p.Ser2863Pro)
c.8533T>C (p.Ser2845Pro)
c.8503T>C (p.Ser2835Pro)
c.8458T>C (p.Ser2820Pro)
c.8053T>C (p.Ser2685Pro)
c.7411T>C (p.Ser2471Pro)
c.4921T>C (p.Ser1641Pro)
10g.71807605T>GCA377131464CDH23c.8398T>G (p.Ser2800Ala)
c.2331T>G (n.2331T>G)
c.1995T>G (n.1995T>G)
c.8413T>G (p.Ser2805Ala)
c.1678T>G (p.Ser560Ala)
n.1934T>G
c.8593T>G (p.Ser2865Ala)
c.8527T>G (p.Ser2843Ala)
c.8590T>G (p.Ser2864Ala)
c.8587T>G (p.Ser2863Ala)
c.8533T>G (p.Ser2845Ala)
c.8503T>G (p.Ser2835Ala)
c.8458T>G (p.Ser2820Ala)
c.8053T>G (p.Ser2685Ala)
c.7411T>G (p.Ser2471Ala)
c.4921T>G (p.Ser1641Ala)
10g.71807606C>ACA377131467CDH23c.8399C>A (p.Ser2800Tyr)
c.2332C>A (n.2332C>A)
c.1996C>A (n.1996C>A)
c.8414C>A (p.Ser2805Tyr)
c.1679C>A (p.Ser560Tyr)
n.1935C>A
c.8594C>A (p.Ser2865Tyr)
c.8528C>A (p.Ser2843Tyr)
c.8591C>A (p.Ser2864Tyr)
c.8588C>A (p.Ser2863Tyr)
c.8534C>A (p.Ser2845Tyr)
c.8504C>A (p.Ser2835Tyr)
c.8459C>A (p.Ser2820Tyr)
c.8054C>A (p.Ser2685Tyr)
c.7412C>A (p.Ser2471Tyr)
c.4922C>A (p.Ser1641Tyr)
10g.71807606C=CA1918886543CDH23c.8399C= (p.Ser2800=)
c.2332C= (n.2332C=)
c.1996C= (n.1996C=)
c.8414C= (p.Ser2805=)
c.1679C= (p.Ser560=)
n.1935C=
c.8594C= (p.Ser2865=)
c.8528C= (p.Ser2843=)
c.8591C= (p.Ser2864=)
c.8588C= (p.Ser2863=)
c.8534C= (p.Ser2845=)
c.8504C= (p.Ser2835=)
c.8459C= (p.Ser2820=)
c.8054C= (p.Ser2685=)
c.7412C= (p.Ser2471=)
c.4922C= (p.Ser1641=)
10g.71807606C>GCA377131469CDH23c.8399C>G (p.Ser2800Cys)
c.2332C>G (n.2332C>G)
c.1996C>G (n.1996C>G)
c.8414C>G (p.Ser2805Cys)
c.1679C>G (p.Ser560Cys)
n.1935C>G
c.8594C>G (p.Ser2865Cys)
c.8528C>G (p.Ser2843Cys)
c.8591C>G (p.Ser2864Cys)
c.8588C>G (p.Ser2863Cys)
c.8534C>G (p.Ser2845Cys)
c.8504C>G (p.Ser2835Cys)
c.8459C>G (p.Ser2820Cys)
c.8054C>G (p.Ser2685Cys)
c.7412C>G (p.Ser2471Cys)
c.4922C>G (p.Ser1641Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.71807606C>TCA377131468CDH23c.8399C>T (p.Ser2800Phe)
c.2332C>T (n.2332C>T)
c.1996C>T (n.1996C>T)
c.8414C>T (p.Ser2805Phe)
c.1679C>T (p.Ser560Phe)
n.1935C>T
c.8594C>T (p.Ser2865Phe)
c.8528C>T (p.Ser2843Phe)
c.8591C>T (p.Ser2864Phe)
c.8588C>T (p.Ser2863Phe)
c.8534C>T (p.Ser2845Phe)
c.8504C>T (p.Ser2835Phe)
c.8459C>T (p.Ser2820Phe)
c.8054C>T (p.Ser2685Phe)
c.7412C>T (p.Ser2471Phe)
c.4922C>T (p.Ser1641Phe)
 dbSNP gnomAD v4
10g.71807607C>ACA470282448CDH23c.8400C>A (p.Ser2800=)
c.2333C>A (n.2333C>A)
c.1997C>A (n.1997C>A)
c.8415C>A (p.Ser2805=)
c.1680C>A (p.Ser560=)
n.1936C>A
c.8595C>A (p.Ser2865=)
c.8529C>A (p.Ser2843=)
c.8592C>A (p.Ser2864=)
c.8589C>A (p.Ser2863=)
c.8535C>A (p.Ser2845=)
c.8505C>A (p.Ser2835=)
c.8460C>A (p.Ser2820=)
c.8055C>A (p.Ser2685=)
c.7413C>A (p.Ser2471=)
c.4923C>A (p.Ser1641=)
10g.71807607C>GCA470282450CDH23c.8400C>G (p.Ser2800=)
c.2333C>G (n.2333C>G)
c.1997C>G (n.1997C>G)
c.8415C>G (p.Ser2805=)
c.1680C>G (p.Ser560=)
n.1936C>G
c.8595C>G (p.Ser2865=)
c.8529C>G (p.Ser2843=)
c.8592C>G (p.Ser2864=)
c.8589C>G (p.Ser2863=)
c.8535C>G (p.Ser2845=)
c.8505C>G (p.Ser2835=)
c.8460C>G (p.Ser2820=)
c.8055C>G (p.Ser2685=)
c.7413C>G (p.Ser2471=)
c.4923C>G (p.Ser1641=)
10g.71807607C>TCA470282449CDH23c.8400C>T (p.Ser2800=)
c.2333C>T (n.2333C>T)
c.1997C>T (n.1997C>T)
c.8415C>T (p.Ser2805=)
c.1680C>T (p.Ser560=)
n.1936C>T
c.8595C>T (p.Ser2865=)
c.8529C>T (p.Ser2843=)
c.8592C>T (p.Ser2864=)
c.8589C>T (p.Ser2863=)
c.8535C>T (p.Ser2845=)
c.8505C>T (p.Ser2835=)
c.8460C>T (p.Ser2820=)
c.8055C>T (p.Ser2685=)
c.7413C>T (p.Ser2471=)
c.4923C>T (p.Ser1641=)
 ClinVar
10g.71807608T>ACA377131470CDH23c.8401T>A (p.Phe2801Ile)
c.2334T>A (n.2334T>A)
c.1998T>A (n.1998T>A)
c.8416T>A (p.Phe2806Ile)
c.1681T>A (p.Phe561Ile)
n.1937T>A
c.8596T>A (p.Phe2866Ile)
c.8530T>A (p.Phe2844Ile)
c.8593T>A (p.Phe2865Ile)
c.8590T>A (p.Phe2864Ile)
c.8536T>A (p.Phe2846Ile)
c.8506T>A (p.Phe2836Ile)
c.8461T>A (p.Phe2821Ile)
c.8056T>A (p.Phe2686Ile)
c.7414T>A (p.Phe2472Ile)
c.4924T>A (p.Phe1642Ile)
10g.71807608T>CCA5546644CDH23c.8401T>C (p.Phe2801Leu)
c.2334T>C (n.2334T>C)
c.1998T>C (n.1998T>C)
c.8416T>C (p.Phe2806Leu)
c.1681T>C (p.Phe561Leu)
n.1937T>C
c.8596T>C (p.Phe2866Leu)
c.8530T>C (p.Phe2844Leu)
c.8593T>C (p.Phe2865Leu)
c.8590T>C (p.Phe2864Leu)
c.8536T>C (p.Phe2846Leu)
c.8506T>C (p.Phe2836Leu)
c.8461T>C (p.Phe2821Leu)
c.8056T>C (p.Phe2686Leu)
c.7414T>C (p.Phe2472Leu)
c.4924T>C (p.Phe1642Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807608T>GCA5546643CDH23c.8401T>G (p.Phe2801Val)
c.2334T>G (n.2334T>G)
c.1998T>G (n.1998T>G)
c.8416T>G (p.Phe2806Val)
c.1681T>G (p.Phe561Val)
n.1937T>G
c.8596T>G (p.Phe2866Val)
c.8530T>G (p.Phe2844Val)
c.8593T>G (p.Phe2865Val)
c.8590T>G (p.Phe2864Val)
c.8536T>G (p.Phe2846Val)
c.8506T>G (p.Phe2836Val)
c.8461T>G (p.Phe2821Val)
c.8056T>G (p.Phe2686Val)
c.7414T>G (p.Phe2472Val)
c.4924T>G (p.Phe1642Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807608T=CA1918886545CDH23c.8401T= (p.Phe2801=)
c.2334T= (n.2334T=)
c.1998T= (n.1998T=)
c.8416T= (p.Phe2806=)
c.1681T= (p.Phe561=)
n.1937T=
c.8596T= (p.Phe2866=)
c.8530T= (p.Phe2844=)
c.8593T= (p.Phe2865=)
c.8590T= (p.Phe2864=)
c.8536T= (p.Phe2846=)
c.8506T= (p.Phe2836=)
c.8461T= (p.Phe2821=)
c.8056T= (p.Phe2686=)
c.7414T= (p.Phe2472=)
c.4924T= (p.Phe1642=)
10g.71807609T>ACA377131471CDH23c.8402T>A (p.Phe2801Tyr)
c.2335T>A (n.2335T>A)
c.1999T>A (n.1999T>A)
c.8417T>A (p.Phe2806Tyr)
c.1682T>A (p.Phe561Tyr)
n.1938T>A
c.8597T>A (p.Phe2866Tyr)
c.8531T>A (p.Phe2844Tyr)
c.8594T>A (p.Phe2865Tyr)
c.8591T>A (p.Phe2864Tyr)
c.8537T>A (p.Phe2846Tyr)
c.8507T>A (p.Phe2836Tyr)
c.8462T>A (p.Phe2821Tyr)
c.8057T>A (p.Phe2686Tyr)
c.7415T>A (p.Phe2472Tyr)
c.4925T>A (p.Phe1642Tyr)
10g.71807609T>CCA377131472CDH23c.8402T>C (p.Phe2801Ser)
c.2335T>C (n.2335T>C)
c.1999T>C (n.1999T>C)
c.8417T>C (p.Phe2806Ser)
c.1682T>C (p.Phe561Ser)
n.1938T>C
c.8597T>C (p.Phe2866Ser)
c.8531T>C (p.Phe2844Ser)
c.8594T>C (p.Phe2865Ser)
c.8591T>C (p.Phe2864Ser)
c.8537T>C (p.Phe2846Ser)
c.8507T>C (p.Phe2836Ser)
c.8462T>C (p.Phe2821Ser)
c.8057T>C (p.Phe2686Ser)
c.7415T>C (p.Phe2472Ser)
c.4925T>C (p.Phe1642Ser)
10g.71807609T>GCA377131473CDH23c.8402T>G (p.Phe2801Cys)
c.2335T>G (n.2335T>G)
c.1999T>G (n.1999T>G)
c.8417T>G (p.Phe2806Cys)
c.1682T>G (p.Phe561Cys)
n.1938T>G
c.8597T>G (p.Phe2866Cys)
c.8531T>G (p.Phe2844Cys)
c.8594T>G (p.Phe2865Cys)
c.8591T>G (p.Phe2864Cys)
c.8537T>G (p.Phe2846Cys)
c.8507T>G (p.Phe2836Cys)
c.8462T>G (p.Phe2821Cys)
c.8057T>G (p.Phe2686Cys)
c.7415T>G (p.Phe2472Cys)
c.4925T>G (p.Phe1642Cys)
10g.71807610C>ACA377131474CDH23c.8403C>A (p.Phe2801Leu)
c.2336C>A (n.2336C>A)
c.2000C>A (n.2000C>A)
c.8418C>A (p.Phe2806Leu)
c.1683C>A (p.Phe561Leu)
n.1939C>A
c.8598C>A (p.Phe2866Leu)
c.8532C>A (p.Phe2844Leu)
c.8595C>A (p.Phe2865Leu)
c.8592C>A (p.Phe2864Leu)
c.8538C>A (p.Phe2846Leu)
c.8508C>A (p.Phe2836Leu)
c.8463C>A (p.Phe2821Leu)
c.8058C>A (p.Phe2686Leu)
c.7416C>A (p.Phe2472Leu)
c.4926C>A (p.Phe1642Leu)
10g.71807610C>GCA377131475CDH23c.8403C>G (p.Phe2801Leu)
c.2336C>G (n.2336C>G)
c.2000C>G (n.2000C>G)
c.8418C>G (p.Phe2806Leu)
c.1683C>G (p.Phe561Leu)
n.1939C>G
c.8598C>G (p.Phe2866Leu)
c.8532C>G (p.Phe2844Leu)
c.8595C>G (p.Phe2865Leu)
c.8592C>G (p.Phe2864Leu)
c.8538C>G (p.Phe2846Leu)
c.8508C>G (p.Phe2836Leu)
c.8463C>G (p.Phe2821Leu)
c.8058C>G (p.Phe2686Leu)
c.7416C>G (p.Phe2472Leu)
c.4926C>G (p.Phe1642Leu)
10g.71807610C>TCA470282451CDH23c.8403C>T (p.Phe2801=)
c.2336C>T (n.2336C>T)
c.2000C>T (n.2000C>T)
c.8418C>T (p.Phe2806=)
c.1683C>T (p.Phe561=)
n.1939C>T
c.8598C>T (p.Phe2866=)
c.8532C>T (p.Phe2844=)
c.8595C>T (p.Phe2865=)
c.8592C>T (p.Phe2864=)
c.8538C>T (p.Phe2846=)
c.8508C>T (p.Phe2836=)
c.8463C>T (p.Phe2821=)
c.8058C>T (p.Phe2686=)
c.7416C>T (p.Phe2472=)
c.4926C>T (p.Phe1642=)
 dbSNP
10g.71807611A=CA1918886548CDH23c.8404A= (p.Ile2802=)
c.2337A= (n.2337A=)
c.2001A= (n.2001A=)
c.8419A= (p.Ile2807=)
c.1684A= (p.Ile562=)
n.1940A=
c.8599A= (p.Ile2867=)
c.8533A= (p.Ile2845=)
c.8596A= (p.Ile2866=)
c.8593A= (p.Ile2865=)
c.8539A= (p.Ile2847=)
c.8509A= (p.Ile2837=)
c.8464A= (p.Ile2822=)
c.8059A= (p.Ile2687=)
c.7417A= (p.Ile2473=)
c.4927A= (p.Ile1643=)
10g.71807611A>CCA377131476CDH23c.8404A>C (p.Ile2802Leu)
c.2337A>C (n.2337A>C)
c.2001A>C (n.2001A>C)
c.8419A>C (p.Ile2807Leu)
c.1684A>C (p.Ile562Leu)
n.1940A>C
c.8599A>C (p.Ile2867Leu)
c.8533A>C (p.Ile2845Leu)
c.8596A>C (p.Ile2866Leu)
c.8593A>C (p.Ile2865Leu)
c.8539A>C (p.Ile2847Leu)
c.8509A>C (p.Ile2837Leu)
c.8464A>C (p.Ile2822Leu)
c.8059A>C (p.Ile2687Leu)
c.7417A>C (p.Ile2473Leu)
c.4927A>C (p.Ile1643Leu)
 dbSNP
10g.71807611A>GCA5546645CDH23c.8404A>G (p.Ile2802Val)
c.2337A>G (n.2337A>G)
c.2001A>G (n.2001A>G)
c.8419A>G (p.Ile2807Val)
c.1684A>G (p.Ile562Val)
n.1940A>G
c.8599A>G (p.Ile2867Val)
c.8533A>G (p.Ile2845Val)
c.8596A>G (p.Ile2866Val)
c.8593A>G (p.Ile2865Val)
c.8539A>G (p.Ile2847Val)
c.8509A>G (p.Ile2837Val)
c.8464A>G (p.Ile2822Val)
c.8059A>G (p.Ile2687Val)
c.7417A>G (p.Ile2473Val)
c.4927A>G (p.Ile1643Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807611A>TCA377131477CDH23c.8404A>T (p.Ile2802Phe)
c.2337A>T (n.2337A>T)
c.2001A>T (n.2001A>T)
c.8419A>T (p.Ile2807Phe)
c.1684A>T (p.Ile562Phe)
n.1940A>T
c.8599A>T (p.Ile2867Phe)
c.8533A>T (p.Ile2845Phe)
c.8596A>T (p.Ile2866Phe)
c.8593A>T (p.Ile2865Phe)
c.8539A>T (p.Ile2847Phe)
c.8509A>T (p.Ile2837Phe)
c.8464A>T (p.Ile2822Phe)
c.8059A>T (p.Ile2687Phe)
c.7417A>T (p.Ile2473Phe)
c.4927A>T (p.Ile1643Phe)
10g.71807612T>ACA377131480CDH23c.8405T>A (p.Ile2802Asn)
c.2338T>A (n.2338T>A)
c.2002T>A (n.2002T>A)
c.8420T>A (p.Ile2807Asn)
c.1685T>A (p.Ile562Asn)
n.1941T>A
c.8600T>A (p.Ile2867Asn)
c.8534T>A (p.Ile2845Asn)
c.8597T>A (p.Ile2866Asn)
c.8594T>A (p.Ile2865Asn)
c.8540T>A (p.Ile2847Asn)
c.8510T>A (p.Ile2837Asn)
c.8465T>A (p.Ile2822Asn)
c.8060T>A (p.Ile2687Asn)
c.7418T>A (p.Ile2473Asn)
c.4928T>A (p.Ile1643Asn)
 dbSNP gnomAD v4
10g.71807612T>CCA377131478CDH23c.8405T>C (p.Ile2802Thr)
c.2338T>C (n.2338T>C)
c.2002T>C (n.2002T>C)
c.8420T>C (p.Ile2807Thr)
c.1685T>C (p.Ile562Thr)
n.1941T>C
c.8600T>C (p.Ile2867Thr)
c.8534T>C (p.Ile2845Thr)
c.8597T>C (p.Ile2866Thr)
c.8594T>C (p.Ile2865Thr)
c.8540T>C (p.Ile2847Thr)
c.8510T>C (p.Ile2837Thr)
c.8465T>C (p.Ile2822Thr)
c.8060T>C (p.Ile2687Thr)
c.7418T>C (p.Ile2473Thr)
c.4928T>C (p.Ile1643Thr)
10g.71807612T>GCA377131479CDH23c.8405T>G (p.Ile2802Ser)
c.2338T>G (n.2338T>G)
c.2002T>G (n.2002T>G)
c.8420T>G (p.Ile2807Ser)
c.1685T>G (p.Ile562Ser)
n.1941T>G
c.8600T>G (p.Ile2867Ser)
c.8534T>G (p.Ile2845Ser)
c.8597T>G (p.Ile2866Ser)
c.8594T>G (p.Ile2865Ser)
c.8540T>G (p.Ile2847Ser)
c.8510T>G (p.Ile2837Ser)
c.8465T>G (p.Ile2822Ser)
c.8060T>G (p.Ile2687Ser)
c.7418T>G (p.Ile2473Ser)
c.4928T>G (p.Ile1643Ser)
10g.71807613C>ACA470282452CDH23c.8406C>A (p.Ile2802=)
c.2339C>A (n.2339C>A)
c.2003C>A (n.2003C>A)
c.8421C>A (p.Ile2807=)
c.1686C>A (p.Ile562=)
n.1942C>A
c.8601C>A (p.Ile2867=)
c.8535C>A (p.Ile2845=)
c.8598C>A (p.Ile2866=)
c.8595C>A (p.Ile2865=)
c.8541C>A (p.Ile2847=)
c.8511C>A (p.Ile2837=)
c.8466C>A (p.Ile2822=)
c.8061C>A (p.Ile2687=)
c.7419C>A (p.Ile2473=)
c.4929C>A (p.Ile1643=)
 dbSNP
10g.71807613C=CA1918886550CDH23c.8406C= (p.Ile2802=)
c.2339C= (n.2339C=)
c.2003C= (n.2003C=)
c.8421C= (p.Ile2807=)
c.1686C= (p.Ile562=)
n.1942C=
c.8601C= (p.Ile2867=)
c.8535C= (p.Ile2845=)
c.8598C= (p.Ile2866=)
c.8595C= (p.Ile2865=)
c.8541C= (p.Ile2847=)
c.8511C= (p.Ile2837=)
c.8466C= (p.Ile2822=)
c.8061C= (p.Ile2687=)
c.7419C= (p.Ile2473=)
c.4929C= (p.Ile1643=)
10g.71807613C>GCA377131481CDH23c.8406C>G (p.Ile2802Met)
c.2339C>G (n.2339C>G)
c.2003C>G (n.2003C>G)
c.8421C>G (p.Ile2807Met)
c.1686C>G (p.Ile562Met)
n.1942C>G
c.8601C>G (p.Ile2867Met)
c.8535C>G (p.Ile2845Met)
c.8598C>G (p.Ile2866Met)
c.8595C>G (p.Ile2865Met)
c.8541C>G (p.Ile2847Met)
c.8511C>G (p.Ile2837Met)
c.8466C>G (p.Ile2822Met)
c.8061C>G (p.Ile2687Met)
c.7419C>G (p.Ile2473Met)
c.4929C>G (p.Ile1643Met)
10g.71807613C>TCA5546646CDH23c.8406C>T (p.Ile2802=)
c.2339C>T (n.2339C>T)
c.2003C>T (n.2003C>T)
c.8421C>T (p.Ile2807=)
c.1686C>T (p.Ile562=)
n.1942C>T
c.8601C>T (p.Ile2867=)
c.8535C>T (p.Ile2845=)
c.8598C>T (p.Ile2866=)
c.8595C>T (p.Ile2865=)
c.8541C>T (p.Ile2847=)
c.8511C>T (p.Ile2837=)
c.8466C>T (p.Ile2822=)
c.8061C>T (p.Ile2687=)
c.7419C>T (p.Ile2473=)
c.4929C>T (p.Ile1643=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807614G>ACA137596CDH23c.8407G>A (p.Val2803Ile)
c.2340G>A (n.2340G>A)
c.2004G>A (n.2004G>A)
c.8422G>A (p.Val2808Ile)
c.1687G>A (p.Val563Ile)
n.1943G>A
c.8602G>A (p.Val2868Ile)
c.8536G>A (p.Val2846Ile)
c.8599G>A (p.Val2867Ile)
c.8596G>A (p.Val2866Ile)
c.8542G>A (p.Val2848Ile)
c.8512G>A (p.Val2838Ile)
c.8467G>A (p.Val2823Ile)
c.8062G>A (p.Val2688Ile)
c.7420G>A (p.Val2474Ile)
c.4930G>A (p.Val1644Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807614G>CCA5546647CDH23c.8407G>C (p.Val2803Leu)
c.2340G>C (n.2340G>C)
c.2004G>C (n.2004G>C)
c.8422G>C (p.Val2808Leu)
c.1687G>C (p.Val563Leu)
n.1943G>C
c.8602G>C (p.Val2868Leu)
c.8536G>C (p.Val2846Leu)
c.8599G>C (p.Val2867Leu)
c.8596G>C (p.Val2866Leu)
c.8542G>C (p.Val2848Leu)
c.8512G>C (p.Val2838Leu)
c.8467G>C (p.Val2823Leu)
c.8062G>C (p.Val2688Leu)
c.7420G>C (p.Val2474Leu)
c.4930G>C (p.Val1644Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807614G=CA1918886553CDH23c.8407G= (p.Val2803=)
c.2340G= (n.2340G=)
c.2004G= (n.2004G=)
c.8422G= (p.Val2808=)
c.1687G= (p.Val563=)
n.1943G=
c.8602G= (p.Val2868=)
c.8536G= (p.Val2846=)
c.8599G= (p.Val2867=)
c.8596G= (p.Val2866=)
c.8542G= (p.Val2848=)
c.8512G= (p.Val2838=)
c.8467G= (p.Val2823=)
c.8062G= (p.Val2688=)
c.7420G= (p.Val2474=)
c.4930G= (p.Val1644=)
10g.71807614G>TCA377131482CDH23c.8407G>T (p.Val2803Phe)
c.2340G>T (n.2340G>T)
c.2004G>T (n.2004G>T)
c.8422G>T (p.Val2808Phe)
c.1687G>T (p.Val563Phe)
n.1943G>T
c.8602G>T (p.Val2868Phe)
c.8536G>T (p.Val2846Phe)
c.8599G>T (p.Val2867Phe)
c.8596G>T (p.Val2866Phe)
c.8542G>T (p.Val2848Phe)
c.8512G>T (p.Val2838Phe)
c.8467G>T (p.Val2823Phe)
c.8062G>T (p.Val2688Phe)
c.7420G>T (p.Val2474Phe)
c.4930G>T (p.Val1644Phe)
 ClinVar dbSNP gnomAD v4
10g.71807615_71807627delCA645559624CDH23c.8408_8420del (p.Val2803AlafsTer30)
c.2341_2353del (n.2341_2353del)
c.2005_2017del (n.2005_2017del)
c.8423_8435del (p.Val2808AlafsTer30)
c.1688_1700del (p.Val563AlafsTer30)
n.1944_1956del
c.8603_8615del (p.Val2868AlafsTer30)
c.8537_8549del (p.Val2846AlafsTer30)
c.8600_8612del (p.Val2867AlafsTer30)
c.8597_8609del (p.Val2866AlafsTer30)
c.8543_8555del (p.Val2848AlafsTer30)
c.8513_8525del (p.Val2838AlafsTer30)
c.8468_8480del (p.Val2823AlafsTer30)
c.8063_8075del (p.Val2688AlafsTer30)
c.7421_7433del (p.Val2474AlafsTer30)
c.4931_4943del (p.Val1644AlafsTer30)
 COSMIC
10g.71807615T>ACA377131483CDH23c.8408T>A (p.Val2803Asp)
c.2341T>A (n.2341T>A)
c.2005T>A (n.2005T>A)
c.8423T>A (p.Val2808Asp)
c.1688T>A (p.Val563Asp)
n.1944T>A
c.8603T>A (p.Val2868Asp)
c.8537T>A (p.Val2846Asp)
c.8600T>A (p.Val2867Asp)
c.8597T>A (p.Val2866Asp)
c.8543T>A (p.Val2848Asp)
c.8513T>A (p.Val2838Asp)
c.8468T>A (p.Val2823Asp)
c.8063T>A (p.Val2688Asp)
c.7421T>A (p.Val2474Asp)
c.4931T>A (p.Val1644Asp)
10g.71807615T>CCA377131484CDH23c.8408T>C (p.Val2803Ala)
c.2341T>C (n.2341T>C)
c.2005T>C (n.2005T>C)
c.8423T>C (p.Val2808Ala)
c.1688T>C (p.Val563Ala)
n.1944T>C
c.8603T>C (p.Val2868Ala)
c.8537T>C (p.Val2846Ala)
c.8600T>C (p.Val2867Ala)
c.8597T>C (p.Val2866Ala)
c.8543T>C (p.Val2848Ala)
c.8513T>C (p.Val2838Ala)
c.8468T>C (p.Val2823Ala)
c.8063T>C (p.Val2688Ala)
c.7421T>C (p.Val2474Ala)
c.4931T>C (p.Val1644Ala)
10g.71807615T>GCA377131485CDH23c.8408T>G (p.Val2803Gly)
c.2341T>G (n.2341T>G)
c.2005T>G (n.2005T>G)
c.8423T>G (p.Val2808Gly)
c.1688T>G (p.Val563Gly)
n.1944T>G
c.8603T>G (p.Val2868Gly)
c.8537T>G (p.Val2846Gly)
c.8600T>G (p.Val2867Gly)
c.8597T>G (p.Val2866Gly)
c.8543T>G (p.Val2848Gly)
c.8513T>G (p.Val2838Gly)
c.8468T>G (p.Val2823Gly)
c.8063T>G (p.Val2688Gly)
c.7421T>G (p.Val2474Gly)
c.4931T>G (p.Val1644Gly)

Number of alleles fetched