Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71807508_71807511dup | CA2609585970 | CDH23 | c.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 |
10 | g.71807511C>A | CA2722290336 | CDH23 | c.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 |
10 | g.71807513C>A | CA2580081841 | CDH23 | c.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 |
10 | g.71807513C= | CA1918886448 | CDH23 | c.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=) | |
10 | g.71807513C>T | CA5546621 | CDH23 | c.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 |
10 | g.71807514A= | CA1918886449 | CDH23 | c.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=) | |
10 | g.71807514A>C | CA377131276 | CDH23 | c.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) | |
10 | g.71807514A>G | CA377131277 | CDH23 | c.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 |
10 | g.71807514A>T | CA377131278 | CDH23 | c.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) | |
10 | g.71807515G>A | CA377131281 | CDH23 | c.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 |
10 | g.71807515G>C | CA377131280 | CDH23 | c.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 |
10 | g.71807515G>T | CA377131279 | CDH23 | c.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) | |
10 | g.71807516C>A | CA377131282 | CDH23 | c.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) | |
10 | g.71807516C>G | CA377131283 | CDH23 | c.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) | |
10 | g.71807516C>T | CA377131284 | CDH23 | c.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 |
10 | g.71807516_71807523del | CA2573145284 | CDH23 | c.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 |
10 | g.71807517C>A | CA470282381 | CDH23 | c.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=) | |
10 | g.71807517C= | CA1918886451 | CDH23 | c.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=) | |
10 | g.71807517C>G | CA470282382 | CDH23 | c.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 |
10 | g.71807517C>T | CA5546622 | CDH23 | c.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 |
10 | g.71807518G>A | CA180727 | CDH23 | c.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 |
10 | g.71807518G>C | CA377131285 | CDH23 | c.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 |
10 | g.71807518G= | CA1918886454 | CDH23 | c.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=) | |
10 | g.71807518G>T | CA377131286 | CDH23 | c.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) | |
10 | g.71807519G>A | CA377131287 | CDH23 | c.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 |
10 | g.71807519G>C | CA377131288 | CDH23 | c.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 |
10 | g.71807519G= | CA1918886456 | CDH23 | c.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=) | |
10 | g.71807519G>T | CA377131289 | CDH23 | c.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) | |
10 | g.71807520C>A | CA470282384 | CDH23 | c.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=) | |
10 | g.71807520C>G | CA470282385 | CDH23 | c.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=) | |
10 | g.71807520C>T | CA470282386 | CDH23 | c.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 |
10 | g.71807520_71807521delinsCA | CA1918886459 | CDH23 | c.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=) | |
10 | g.71807520_71807524delinsCAACG | CA1918886458 | CDH23 | c.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=) | |
10 | g.71807521A>C | CA377131290 | CDH23 | c.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) | |
10 | g.71807521A>G | CA377131291 | CDH23 | c.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) | |
10 | g.71807521A>T | CA377131292 | CDH23 | c.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) | |
10 | g.71807522del | CA594706194 | CDH23 | c.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 |
10 | g.71807523_71807526del | CA668120144 | CDH23 | c.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 |
10 | g.71807522A>C | CA377131294 | CDH23 | c.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 |
10 | g.71807522A>G | CA377131295 | CDH23 | c.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) | |
10 | g.71807522A>T | CA377131293 | CDH23 | c.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 |
10 | g.71807523C>A | CA377131296 | CDH23 | c.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) | |
10 | g.71807523C= | CA1918886462 | CDH23 | c.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=) | |
10 | g.71807523C>G | CA377131297 | CDH23 | c.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) | |
10 | g.71807523C>T | CA5546623 | CDH23 | c.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 |
10 | g.71807524G>A | CA5546624 | CDH23 | c.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 |
10 | g.71807524G>C | CA377131298 | CDH23 | c.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) | |
10 | g.71807524G= | CA1918886466 | CDH23 | c.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=) | |
10 | g.71807524G>T | CA377131299 | CDH23 | c.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) | |
10 | g.71807529_71807533del | CA2609586065 | CDH23 | c.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 |
10 | g.71807525A>C | CA377131302 | CDH23 | c.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) | |
10 | g.71807525A>G | CA377131300 | CDH23 | c.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) | |
10 | g.71807525A>T | CA377131301 | CDH23 | c.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 |
10 | g.71807525_71807526del | CA2695212117 | CDH23 | c.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 |
10 | g.71807526del | CA2609586071 | CDH23 | c.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 |
10 | g.71807526A>C | CA377131303 | CDH23 | c.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) | |
10 | g.71807526A>G | CA470282387 | CDH23 | c.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=) | |
10 | g.71807526A>T | CA377131304 | CDH23 | c.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) | |
10 | g.71807527G>A | CA377131305 | CDH23 | c.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 |
10 | g.71807527G>C | CA377131306 | CDH23 | c.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 |
10 | g.71807527G>T | CA377131307 | CDH23 | c.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) | |
10 | g.71807527_71807530delinsGAGA | CA1918886468 | CDH23 | c.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=) | |
10 | g.71807528A>C | CA377131310 | CDH23 | c.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) | |
10 | g.71807528A>G | CA377131308 | CDH23 | c.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) | |
10 | g.71807528A>T | CA377131309 | CDH23 | c.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) | |
10 | g.71807532_71807534del | CA5546625 | CDH23 | c.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 |
10 | g.71807529G>A | CA5546626 | CDH23 | c.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 |
10 | g.71807529G>C | CA377131311 | CDH23 | c.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) | |
10 | g.71807529G= | CA1918886473 | CDH23 | c.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=) | |
10 | g.71807529G>T | CA377131312 | CDH23 | c.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) | |
10 | g.71807530A>C | CA377131313 | CDH23 | c.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) | |
10 | g.71807530A>G | CA377131314 | CDH23 | c.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) | |
10 | g.71807530A>T | CA377131315 | CDH23 | c.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) | |
10 | g.71807531A>C | CA377131316 | CDH23 | c.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) | |
10 | g.71807531A>G | CA377131317 | CDH23 | c.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) | |
10 | g.71807531A>T | CA377131318 | CDH23 | c.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) | |
10 | g.71807532G>A | CA470282388 | CDH23 | c.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=) | |
10 | g.71807532G>C | CA377131319 | CDH23 | c.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 |
10 | g.71807532G>T | CA377131320 | CDH23 | c.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) | |
10 | g.71807533A>C | CA377131321 | CDH23 | c.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) | |
10 | g.71807533A>G | CA377131323 | CDH23 | c.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) | |
10 | g.71807533A>T | CA377131322 | CDH23 | c.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) | |
10 | g.71807534A= | CA1918886475 | CDH23 | c.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=) | |
10 | g.71807534A>C | CA377131324 | CDH23 | c.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) | |
10 | g.71807534A>G | CA377131325 | CDH23 | c.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) | |
10 | g.71807534A>T | CA5546627 | CDH23 | c.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 |
10 | g.71807535C>A | CA377131326 | CDH23 | c.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) | |
10 | g.71807535C>G | CA377131327 | CDH23 | c.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) | |
10 | g.71807535C>T | CA470282389 | CDH23 | c.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=) | |
10 | g.71807536T>A | CA377131328 | CDH23 | c.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) | |
10 | g.71807536T>C | CA377131329 | CDH23 | c.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) | |
10 | g.71807536T>G | CA377131330 | CDH23 | c.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) | |
10 | g.71807537T>A | CA377131331 | CDH23 | c.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) | |
10 | g.71807537T>C | CA377131332 | CDH23 | c.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 |
10 | g.71807537T>G | CA377131333 | CDH23 | c.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) | |
10 | g.71807538C>A | CA377131334 | CDH23 | c.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) | |
10 | g.71807538C>G | CA377131335 | CDH23 | c.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) | |
10 | g.71807538C>T | CA470282390 | CDH23 | c.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 |
10 | g.71807539C>A | CA377131337 | CDH23 | c.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 |
10 | g.71807539C>G | CA377131338 | CDH23 | c.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) | |
10 | g.71807539C>T | CA377131336 | CDH23 | c.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 |
10 | g.71807540A>C | CA377131339 | CDH23 | c.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) | |
10 | g.71807540A>G | CA377131340 | CDH23 | c.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) | |
10 | g.71807540A>T | CA377131341 | CDH23 | c.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) | |
10 | g.71807541T>A | CA377131342 | CDH23 | c.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 |
10 | g.71807541T>C | CA470282391 | CDH23 | c.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 |
10 | g.71807541T>G | CA377131343 | CDH23 | c.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) | |
10 | g.71807542C>A | CA377131345 | CDH23 | c.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) | |
10 | g.71807542C>G | CA377131344 | CDH23 | c.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) | |
10 | g.71807542C>T | CA470282392 | CDH23 | c.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=) | |
10 | g.71807543T>A | CA377131346 | CDH23 | c.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) | |
10 | g.71807543T>C | CA377131347 | CDH23 | c.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 |
10 | g.71807543T>G | CA377131348 | CDH23 | c.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) | |
10 | g.71807544G>A | CA470282394 | CDH23 | c.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 |
10 | g.71807544G>C | CA470282395 | CDH23 | c.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=) | |
10 | g.71807544G>T | CA470282393 | CDH23 | c.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=) | |
10 | g.71807545C>A | CA377131349 | CDH23 | c.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) | |
10 | g.71807545C>G | CA377131350 | CDH23 | c.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) | |
10 | g.71807545C>T | CA377131351 | CDH23 | c.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) | |
10 | g.71807546A>C | CA377131352 | CDH23 | c.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) | |
10 | g.71807546A>G | CA377131354 | CDH23 | c.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) | |
10 | g.71807546A>T | CA377131353 | CDH23 | c.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 |
10 | g.71807547G>A | CA470282396 | CDH23 | c.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=) | |
10 | g.71807547G>C | CA377131355 | CDH23 | c.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) | |
10 | g.71807547G>T | CA377131356 | CDH23 | c.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) | |
10 | g.71807548C>A | CA377131357 | CDH23 | c.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) | |
10 | g.71807548C>G | CA377131358 | CDH23 | c.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) | |
10 | g.71807548C>T | CA377131359 | CDH23 | c.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 |
10 | g.71807549C>A | CA377131360 | CDH23 | c.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) | |
10 | g.71807549C= | CA1918886477 | CDH23 | c.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=) | |
10 | g.71807549C>G | CA377131361 | CDH23 | c.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 |
10 | g.71807549C>T | CA377131362 | CDH23 | c.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) | |
10 | g.71807550C>A | CA470282398 | CDH23 | c.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=) | |
10 | g.71807550C= | CA1918886479 | CDH23 | c.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=) | |
10 | g.71807550C>G | CA470282399 | CDH23 | c.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 |
10 | g.71807550C>T | CA5546628 | CDH23 | c.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 |
10 | g.71807550_71807553dup | CA470282397 | CDH23 | c.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 |
10 | g.71807551G>A | CA5546629 | CDH23 | c.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 |
10 | g.71807551G>C | CA377131363 | CDH23 | c.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 |
10 | g.71807551G= | CA1918886482 | CDH23 | c.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=) | |
10 | g.71807551G>T | CA377131364 | CDH23 | c.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 |
10 | g.71807552A>C | CA377131365 | CDH23 | c.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) | |
10 | g.71807552A>G | CA377131366 | CDH23 | c.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) | |
10 | g.71807552A>T | CA377131367 | CDH23 | c.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) | |
10 | g.71807553T>A | CA5546630 | CDH23 | c.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 |
10 | g.71807553T>C | CA470282400 | CDH23 | c.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 |
10 | g.71807553T>G | CA377131368 | CDH23 | c.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) | |
10 | g.71807553T= | CA1918886486 | CDH23 | c.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=) | |
10 | g.71807554G>A | CA377131369 | CDH23 | c.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) | |
10 | g.71807554G>C | CA377131370 | CDH23 | c.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) | |
10 | g.71807554G>T | CA377131371 | CDH23 | c.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) | |
10 | g.71807555G>A | CA377131372 | CDH23 | c.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 |
10 | g.71807555G>C | CA377131373 | CDH23 | c.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) | |
10 | g.71807555G>T | CA377131374 | CDH23 | c.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) | |
10 | g.71807556G>A | CA470282401 | CDH23 | c.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 |
10 | g.71807556G>C | CA470282402 | CDH23 | c.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 |
10 | g.71807556G>T | CA470282403 | CDH23 | c.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 |
10 | g.71807557T>A | CA377131375 | CDH23 | c.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) | |
10 | g.71807557T>C | CA377131376 | CDH23 | c.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 |
10 | g.71807557T>G | CA377131377 | CDH23 | c.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 |
10 | g.71807557T= | CA1918886487 | CDH23 | c.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=) | |
10 | g.71807558G>A | CA377131378 | CDH23 | c.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 |
10 | g.71807558G>C | CA377131379 | CDH23 | c.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 |
10 | g.71807558G= | CA1918886489 | CDH23 | c.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=) | |
10 | g.71807558G>T | CA377131380 | CDH23 | c.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) | |
10 | g.71807558_71807559delinsGT | CA1918886491 | CDH23 | c.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=) | |
10 | g.71807558_71807559insCGAT | CA658823159 | CDH23 | c.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 |
10 | g.71807559del | CA594706197 | CDH23 | c.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 |
10 | g.71807559T>A | CA377131382 | CDH23 | c.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) | |
10 | g.71807559T>C | CA470282404 | CDH23 | c.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 |
10 | g.71807559T>G | CA377131381 | CDH23 | c.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) | |
10 | g.71807559T= | CA1918886493 | CDH23 | c.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=) | |
10 | g.71807560C>A | CA377131383 | CDH23 | c.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) | |
10 | g.71807560C>G | CA377131384 | CDH23 | c.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) | |
10 | g.71807560C>T | CA470282405 | CDH23 | c.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 |
10 | g.71807564_71807572del | CA2722291081 | CDH23 | c.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 |
10 | g.71807561T>A | CA377131385 | CDH23 | c.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) | |
10 | g.71807561T>C | CA377131386 | CDH23 | c.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) | |
10 | g.71807561T>G | CA377131387 | CDH23 | c.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) | |
10 | g.71807562G>A | CA470282406 | CDH23 | c.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 |
10 | g.71807562G>C | CA470282407 | CDH23 | c.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=) | |
10 | g.71807562G>T | CA470282408 | CDH23 | c.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=) | |
10 | g.71807563C>A | CA377131388 | CDH23 | c.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) | |
10 | g.71807563C>G | CA377131389 | CDH23 | c.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 |
10 | g.71807563C>T | CA470282409 | CDH23 | c.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 |
10 | g.71807564T>A | CA377131390 | CDH23 | c.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) | |
10 | g.71807564T>C | CA377131391 | CDH23 | c.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) | |
10 | g.71807564T>G | CA377131392 | CDH23 | c.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) | |
10 | g.71807565G>A | CA470282410 | CDH23 | c.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=) | |
10 | g.71807565G>C | CA470282412 | CDH23 | c.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=) | |
10 | g.71807565G>T | CA470282411 | CDH23 | c.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=) | |
10 | g.71807566G>A | CA377131393 | CDH23 | c.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) | |
10 | g.71807566G>C | CA209436999 | CDH23 | c.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 |
10 | g.71807566G= | CA1918886496 | CDH23 | c.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=) | |
10 | g.71807566G>T | CA377131394 | CDH23 | c.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) | |
10 | g.71807567T>A | CA377131396 | CDH23 | c.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) | |
10 | g.71807567T>C | CA377131397 | CDH23 | c.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) | |
10 | g.71807567T>G | CA377131395 | CDH23 | c.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) | |
10 | g.71807568G>A | CA470282413 | CDH23 | c.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 |
10 | g.71807568G>C | CA470282414 | CDH23 | c.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=) | |
10 | g.71807568G>T | CA470282415 | CDH23 | c.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=) | |
10 | g.71807569C>A | CA377131398 | CDH23 | c.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) | |
10 | g.71807569C= | CA1918886498 | CDH23 | c.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=) | |
10 | g.71807569C>G | CA377131399 | CDH23 | c.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) | |
10 | g.71807569C>T | CA470282416 | CDH23 | c.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 |
10 | g.71807570T>A | CA377131400 | CDH23 | c.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) | |
10 | g.71807570T>C | CA377131401 | CDH23 | c.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) | |
10 | g.71807570T>G | CA377131402 | CDH23 | c.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) | |
10 | g.71807571G>A | CA470282417 | CDH23 | c.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=) | |
10 | g.71807571G>C | CA470282418 | CDH23 | c.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=) | |
10 | g.71807571G>T | CA470282419 | CDH23 | c.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=) | |
10 | g.71807572C>A | CA470282420 | CDH23 | c.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 |
10 | g.71807572C= | CA1918886500 | CDH23 | c.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=) | |
10 | g.71807572C>G | CA377131403 | CDH23 | c.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) | |
10 | g.71807572C>T | CA5546631 | CDH23 | c.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 |
10 | g.71807573G>A | CA377131404 | CDH23 | c.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 |
10 | g.71807573G>C | CA377131405 | CDH23 | c.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) | |
10 | g.71807573G= | CA1918886503 | CDH23 | c.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=) | |
10 | g.71807573G>T | CA377131406 | CDH23 | c.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) | |
10 | g.71807575dup | CA2695212118 | CDH23 | c.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?) | |
10 | g.71807574G>A | CA470282421 | CDH23 | c.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=) | |
10 | g.71807574G>C | CA470282422 | CDH23 | c.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=) | |
10 | g.71807574G>T | CA470282423 | CDH23 | c.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=) | |
10 | g.71807575G>A | CA5546632 | CDH23 | c.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 |
10 | g.71807575G>C | CA377131407 | CDH23 | c.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) | |
10 | g.71807575G= | CA1918886505 | CDH23 | c.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=) | |
10 | g.71807575G>T | CA377131408 | CDH23 | c.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) | |
10 | g.71807576A>C | CA377131409 | CDH23 | c.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) | |
10 | g.71807576A>G | CA377131411 | CDH23 | c.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) | |
10 | g.71807576A>T | CA377131410 | CDH23 | c.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) | |
10 | g.71807577C>A | CA377131412 | CDH23 | c.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) | |
10 | g.71807577C>G | CA377131413 | CDH23 | c.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 |
10 | g.71807577C>T | CA470282424 | CDH23 | c.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=) | |
10 | g.71807578del | CA2609586200 | CDH23 | c.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 |
10 | g.71807578C>A | CA377131414 | CDH23 | c.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 |
10 | g.71807578C= | CA1918886507 | CDH23 | c.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=) | |
10 | g.71807578C>G | CA377131415 | CDH23 | c.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 |
10 | g.71807578C>T | CA470282425 | CDH23 | c.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=) | |
10 | g.71807579T>A | CA377131416 | CDH23 | c.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) | |
10 | g.71807579T>C | CA5546633 | CDH23 | c.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 |
10 | g.71807579T>G | CA377131417 | CDH23 | c.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) | |
10 | g.71807579T= | CA1918886509 | CDH23 | c.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=) | |
10 | g.71807580G>A | CA470282426 | CDH23 | c.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=) | |
10 | g.71807580G>C | CA470282427 | CDH23 | c.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=) | |
10 | g.71807580G>T | CA470282428 | CDH23 | c.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=) | |
10 | g.71807581G>A | CA377131418 | CDH23 | c.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 |
10 | g.71807581G>C | CA377131419 | CDH23 | c.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) | |
10 | g.71807581G>T | CA377131420 | CDH23 | c.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) | |
10 | g.71807582A= | CA1918886510 | CDH23 | c.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=) | |
10 | g.71807582A>C | CA377131423 | CDH23 | c.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) | |
10 | g.71807582A>G | CA377131421 | CDH23 | c.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) | |
10 | g.71807582A>T | CA377131422 | CDH23 | c.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) | |
10 | g.71807582_71807583insGCA | CA2609586219 | CDH23 | c.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 |
10 | g.71807583C>A | CA5546634 | CDH23 | c.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 |
10 | g.71807583C= | CA1918886513 | CDH23 | c.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=) | |
10 | g.71807583C>G | CA377131424 | CDH23 | c.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 |
10 | g.71807583C>T | CA470282429 | CDH23 | c.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 |
10 | g.71807584dup | CA1918886512 | CDH23 | c.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 |
10 | g.71807584C>A | CA5546635 | CDH23 | c.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 |
10 | g.71807584C= | CA1918886517 | CDH23 | c.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=) | |
10 | g.71807584C>G | CA377131425 | CDH23 | c.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 |
10 | g.71807584C>T | CA5546636 | CDH23 | c.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 |
10 | g.71807585G>A | CA5546637 | CDH23 | c.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 |
10 | g.71807585G>C | CA377131426 | CDH23 | c.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) | |
10 | g.71807585G= | CA1918886521 | CDH23 | c.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=) | |
10 | g.71807585G>T | CA377131427 | CDH23 | c.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 |
10 | g.71807586G>A | CA470282431 | CDH23 | c.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 |
10 | g.71807586G>C | CA470282432 | CDH23 | c.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=) | |
10 | g.71807586G>T | CA470282430 | CDH23 | c.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=) | |
10 | g.71807587G>A | CA5546638 | CDH23 | c.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 |
10 | g.71807587G>C | CA377131428 | CDH23 | c.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 |
10 | g.71807587G= | CA1918886523 | CDH23 | c.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=) | |
10 | g.71807587G>T | CA377131429 | CDH23 | c.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) | |
10 | g.71807588A= | CA1918886524 | CDH23 | c.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=) | |
10 | g.71807588A>C | CA377131430 | CDH23 | c.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) | |
10 | g.71807588A>G | CA377131431 | CDH23 | c.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 |
10 | g.71807588A>T | CA377131432 | CDH23 | c.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) | |
10 | g.71807589G>A | CA470282433 | CDH23 | c.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 |
10 | g.71807589G>C | CA377131433 | CDH23 | c.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) | |
10 | g.71807589G>T | CA377131434 | CDH23 | c.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 |
10 | g.71807590C>A | CA470282434 | CDH23 | c.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 |
10 | g.71807590C= | CA1918886526 | CDH23 | c.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=) | |
10 | g.71807590C>G | CA377131435 | CDH23 | c.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 |
10 | g.71807590C>T | CA5546639 | CDH23 | c.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 |
10 | g.71807591G>A | CA5546640 | CDH23 | c.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 |
10 | g.71807591G>C | CA377131436 | CDH23 | c.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 |
10 | g.71807591G= | CA1918886528 | CDH23 | c.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=) | |
10 | g.71807591G>T | CA377131437 | CDH23 | c.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) | |
10 | g.71807592A>C | CA470282435 | CDH23 | c.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=) | |
10 | g.71807592A>G | CA470282436 | CDH23 | c.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=) | |
10 | g.71807592A>T | CA470282437 | CDH23 | c.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=) | |
10 | g.71807593G>A | CA377131438 | CDH23 | c.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) | |
10 | g.71807593G>C | CA377131440 | CDH23 | c.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) | |
10 | g.71807593G>T | CA377131439 | CDH23 | c.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) | |
10 | g.71807594A= | CA1918886530 | CDH23 | c.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=) | |
10 | g.71807594A>C | CA377131441 | CDH23 | c.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 |
10 | g.71807594A>G | CA377131442 | CDH23 | c.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 |
10 | g.71807594A>T | CA377131443 | CDH23 | c.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) | |
10 | g.71807595A>C | CA377131444 | CDH23 | c.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) | |
10 | g.71807595A>G | CA470282438 | CDH23 | c.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=) | |
10 | g.71807595A>T | CA377131445 | CDH23 | c.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) | |
10 | g.71807596G>A | CA5546641 | CDH23 | c.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 |
10 | g.71807596G>C | CA377131446 | CDH23 | c.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) | |
10 | g.71807596G= | CA1918886532 | CDH23 | c.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=) | |
10 | g.71807596G>T | CA377131447 | CDH23 | c.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) | |
10 | g.71807597C>A | CA377131448 | CDH23 | c.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 |
10 | g.71807597C= | CA1918886533 | CDH23 | c.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=) | |
10 | g.71807597C>G | CA377131449 | CDH23 | c.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 |
10 | g.71807597C>T | CA209437060 | CDH23 | c.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 |
10 | g.71807599_71807607del | CA2609586284 | CDH23 | c.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 |
10 | g.71807598C>A | CA470282439 | CDH23 | c.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 |
10 | g.71807598C= | CA1918886535 | CDH23 | c.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=) | |
10 | g.71807598C>G | CA470282440 | CDH23 | c.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 |
10 | g.71807598C>T | CA470282441 | CDH23 | c.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 |
10 | g.71807599A>C | CA377131452 | CDH23 | c.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) | |
10 | g.71807599A>G | CA377131451 | CDH23 | c.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 |
10 | g.71807599A>T | CA377131450 | CDH23 | c.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) | |
10 | g.71807600T>A | CA377131453 | CDH23 | c.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) | |
10 | g.71807600T>C | CA377131454 | CDH23 | c.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) | |
10 | g.71807600T>G | CA377131455 | CDH23 | c.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) | |
10 | g.71807603_71807605del | CA2574575683 | CDH23 | c.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 |
10 | g.71807601C>A | CA470282442 | CDH23 | c.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=) | |
10 | g.71807601C= | CA1918886537 | CDH23 | c.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=) | |
10 | g.71807601C>G | CA5546642 | CDH23 | c.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 |
10 | g.71807601C>T | CA470282443 | CDH23 | c.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 |
10 | g.71807602T>A | CA377131456 | CDH23 | c.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) | |
10 | g.71807602T>C | CA377131457 | CDH23 | c.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) | |
10 | g.71807602T>G | CA377131458 | CDH23 | c.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) | |
10 | g.71807603T>A | CA377131459 | CDH23 | c.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) | |
10 | g.71807603T>C | CA377131460 | CDH23 | c.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 |
10 | g.71807603T>G | CA377131461 | CDH23 | c.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) | |
10 | g.71807603T= | CA1918886540 | CDH23 | c.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=) | |
10 | g.71807603_71807606delinsTCTC | CA1918886539 | CDH23 | c.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=) | |
10 | g.71807604C>A | CA377131462 | CDH23 | c.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 |
10 | g.71807604C>G | CA377131463 | CDH23 | c.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) | |
10 | g.71807604C>T | CA470282446 | CDH23 | c.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=) | |
10 | g.71807606_71807608del | CA668120291 | CDH23 | c.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 |
10 | g.71807605T>A | CA377131466 | CDH23 | c.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) | |
10 | g.71807605T>C | CA377131465 | CDH23 | c.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) | |
10 | g.71807605T>G | CA377131464 | CDH23 | c.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) | |
10 | g.71807606C>A | CA377131467 | CDH23 | c.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) | |
10 | g.71807606C= | CA1918886543 | CDH23 | c.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=) | |
10 | g.71807606C>G | CA377131469 | CDH23 | c.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 |
10 | g.71807606C>T | CA377131468 | CDH23 | c.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 |
10 | g.71807607C>A | CA470282448 | CDH23 | c.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=) | |
10 | g.71807607C>G | CA470282450 | CDH23 | c.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=) | |
10 | g.71807607C>T | CA470282449 | CDH23 | c.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 |
10 | g.71807608T>A | CA377131470 | CDH23 | c.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) | |
10 | g.71807608T>C | CA5546644 | CDH23 | c.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 |
10 | g.71807608T>G | CA5546643 | CDH23 | c.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 |
10 | g.71807608T= | CA1918886545 | CDH23 | c.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=) | |
10 | g.71807609T>A | CA377131471 | CDH23 | c.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) | |
10 | g.71807609T>C | CA377131472 | CDH23 | c.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) | |
10 | g.71807609T>G | CA377131473 | CDH23 | c.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) | |
10 | g.71807610C>A | CA377131474 | CDH23 | c.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) | |
10 | g.71807610C>G | CA377131475 | CDH23 | c.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) | |
10 | g.71807610C>T | CA470282451 | CDH23 | c.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 |
10 | g.71807611A= | CA1918886548 | CDH23 | c.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=) | |
10 | g.71807611A>C | CA377131476 | CDH23 | c.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 |
10 | g.71807611A>G | CA5546645 | CDH23 | c.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 |
10 | g.71807611A>T | CA377131477 | CDH23 | c.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) |