Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71807508_71807511dupCA2609585970CDH23c.8309-8_8309-5dup (n.8309-8_8309-5dup)
c.2242-8_2242-5dup (n.2242-8_2242-5dup)
c.1906-8_1906-5dup (n.1906-8_1906-5dup)
c.8324-8_8324-5dup (n.8324-8_8324-5dup)
c.1589-8_1589-5dup (n.1589-8_1589-5dup)
n.1845-8_1845-5dup
c.8504-8_8504-5dup (n.8504-8_8504-5dup)
c.8438-8_8438-5dup (n.8438-8_8438-5dup)
c.8501-8_8501-5dup (n.8501-8_8501-5dup)
c.8498-8_8498-5dup (n.8498-8_8498-5dup)
c.8444-8_8444-5dup (n.8444-8_8444-5dup)
c.8414-8_8414-5dup (n.8414-8_8414-5dup)
c.8369-8_8369-5dup (n.8369-8_8369-5dup)
c.7964-8_7964-5dup (n.7964-8_7964-5dup)
c.7322-8_7322-5dup (n.7322-8_7322-5dup)
c.4832-8_4832-5dup (n.4832-8_4832-5dup)
 gnomAD v4
10g.71807511C>ACA2722290336CDH23c.8309-5C>A (n.8309-5C>A)
c.2242-5C>A (n.2242-5C>A)
c.1906-5C>A (n.1906-5C>A)
c.8324-5C>A (n.8324-5C>A)
c.1589-5C>A (n.1589-5C>A)
n.1845-5C>A
c.8504-5C>A (n.8504-5C>A)
c.8438-5C>A (n.8438-5C>A)
c.8501-5C>A (n.8501-5C>A)
c.8498-5C>A (n.8498-5C>A)
c.8444-5C>A (n.8444-5C>A)
c.8414-5C>A (n.8414-5C>A)
c.8369-5C>A (n.8369-5C>A)
c.7964-5C>A (n.7964-5C>A)
c.7322-5C>A (n.7322-5C>A)
c.4832-5C>A (n.4832-5C>A)
 dbSNP
10g.71807513C>ACA2580081841CDH23c.8309-3C>A (n.8309-3C>A)
c.2242-3C>A (n.2242-3C>A)
c.1906-3C>A (n.1906-3C>A)
c.8324-3C>A (n.8324-3C>A)
c.1589-3C>A (n.1589-3C>A)
n.1845-3C>A
c.8504-3C>A (n.8504-3C>A)
c.8438-3C>A (n.8438-3C>A)
c.8501-3C>A (n.8501-3C>A)
c.8498-3C>A (n.8498-3C>A)
c.8444-3C>A (n.8444-3C>A)
c.8414-3C>A (n.8414-3C>A)
c.8369-3C>A (n.8369-3C>A)
c.7964-3C>A (n.7964-3C>A)
c.7322-3C>A (n.7322-3C>A)
c.4832-3C>A (n.4832-3C>A)
 ClinVar
10g.71807513C=CA1918886448CDH23c.8309-3C= (n.8309-3C=)
c.2242-3C= (n.2242-3C=)
c.1906-3C= (n.1906-3C=)
c.8324-3C= (n.8324-3C=)
c.1589-3C= (n.1589-3C=)
n.1845-3C=
c.8504-3C= (n.8504-3C=)
c.8438-3C= (n.8438-3C=)
c.8501-3C= (n.8501-3C=)
c.8498-3C= (n.8498-3C=)
c.8444-3C= (n.8444-3C=)
c.8414-3C= (n.8414-3C=)
c.8369-3C= (n.8369-3C=)
c.7964-3C= (n.7964-3C=)
c.7322-3C= (n.7322-3C=)
c.4832-3C= (n.4832-3C=)
10g.71807513C>TCA5546621CDH23c.8309-3C>T (n.8309-3C>T)
c.2242-3C>T (n.2242-3C>T)
c.1906-3C>T (n.1906-3C>T)
c.8324-3C>T (n.8324-3C>T)
c.1589-3C>T (n.1589-3C>T)
n.1845-3C>T
c.8504-3C>T (n.8504-3C>T)
c.8438-3C>T (n.8438-3C>T)
c.8501-3C>T (n.8501-3C>T)
c.8498-3C>T (n.8498-3C>T)
c.8444-3C>T (n.8444-3C>T)
c.8414-3C>T (n.8414-3C>T)
c.8369-3C>T (n.8369-3C>T)
c.7964-3C>T (n.7964-3C>T)
c.7322-3C>T (n.7322-3C>T)
c.4832-3C>T (n.4832-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807514A=CA1918886449CDH23c.8309-2A= (n.8309-2A=)
c.2242-2A= (n.2242-2A=)
c.1906-2A= (n.1906-2A=)
c.8324-2A= (n.8324-2A=)
c.1589-2A= (n.1589-2A=)
n.1845-2A=
c.8504-2A= (n.8504-2A=)
c.8438-2A= (n.8438-2A=)
c.8501-2A= (n.8501-2A=)
c.8498-2A= (n.8498-2A=)
c.8444-2A= (n.8444-2A=)
c.8414-2A= (n.8414-2A=)
c.8369-2A= (n.8369-2A=)
c.7964-2A= (n.7964-2A=)
c.7322-2A= (n.7322-2A=)
c.4832-2A= (n.4832-2A=)
10g.71807514A>CCA377131276CDH23c.8309-2A>C (n.8309-2A>C)
c.2242-2A>C (n.2242-2A>C)
c.1906-2A>C (n.1906-2A>C)
c.8324-2A>C (n.8324-2A>C)
c.1589-2A>C (n.1589-2A>C)
n.1845-2A>C
c.8504-2A>C (n.8504-2A>C)
c.8438-2A>C (n.8438-2A>C)
c.8501-2A>C (n.8501-2A>C)
c.8498-2A>C (n.8498-2A>C)
c.8444-2A>C (n.8444-2A>C)
c.8414-2A>C (n.8414-2A>C)
c.8369-2A>C (n.8369-2A>C)
c.7964-2A>C (n.7964-2A>C)
c.7322-2A>C (n.7322-2A>C)
c.4832-2A>C (n.4832-2A>C)
10g.71807514A>GCA377131277CDH23c.8309-2A>G (n.8309-2A>G)
c.2242-2A>G (n.2242-2A>G)
c.1906-2A>G (n.1906-2A>G)
c.8324-2A>G (n.8324-2A>G)
c.1589-2A>G (n.1589-2A>G)
n.1845-2A>G
c.8504-2A>G (n.8504-2A>G)
c.8438-2A>G (n.8438-2A>G)
c.8501-2A>G (n.8501-2A>G)
c.8498-2A>G (n.8498-2A>G)
c.8444-2A>G (n.8444-2A>G)
c.8414-2A>G (n.8414-2A>G)
c.8369-2A>G (n.8369-2A>G)
c.7964-2A>G (n.7964-2A>G)
c.7322-2A>G (n.7322-2A>G)
c.4832-2A>G (n.4832-2A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71807514A>TCA377131278CDH23c.8309-2A>T (n.8309-2A>T)
c.2242-2A>T (n.2242-2A>T)
c.1906-2A>T (n.1906-2A>T)
c.8324-2A>T (n.8324-2A>T)
c.1589-2A>T (n.1589-2A>T)
n.1845-2A>T
c.8504-2A>T (n.8504-2A>T)
c.8438-2A>T (n.8438-2A>T)
c.8501-2A>T (n.8501-2A>T)
c.8498-2A>T (n.8498-2A>T)
c.8444-2A>T (n.8444-2A>T)
c.8414-2A>T (n.8414-2A>T)
c.8369-2A>T (n.8369-2A>T)
c.7964-2A>T (n.7964-2A>T)
c.7322-2A>T (n.7322-2A>T)
c.4832-2A>T (n.4832-2A>T)
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

Number of alleles fetched