Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60838069A= | CA1788116013 | CHD7 | c.4354-7A= (n.4354-7A=) c.1717-24160A= (n.1717-24160A=) c.2341-7A= (n.2341-7A=) c.1891-7A= (n.1891-7A=) c.1099-7A= (n.1099-7A=) | |
8 | g.60838069A>G | CA4760121 | CHD7 | c.4354-7A>G (n.4354-7A>G) c.1717-24160A>G (n.1717-24160A>G) c.2341-7A>G (n.2341-7A>G) c.1891-7A>G (n.1891-7A>G) c.1099-7A>G (n.1099-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60838070A>G | CA2580078479 | CHD7 | c.4354-6A>G (n.4354-6A>G) c.1717-24159A>G (n.1717-24159A>G) c.2341-6A>G (n.2341-6A>G) c.1891-6A>G (n.1891-6A>G) c.1099-6A>G (n.1099-6A>G) | ClinVar |
8 | g.60838072A>G | CA2687399294 | CHD7 | c.4354-4A>G (n.4354-4A>G) c.1717-24157A>G (n.1717-24157A>G) c.2341-4A>G (n.2341-4A>G) c.1891-4A>G (n.1891-4A>G) c.1099-4A>G (n.1099-4A>G) | gnomAD v4 |
8 | g.60838073C>A | CA2579173601 | CHD7 | c.4354-3C>A (n.4354-3C>A) c.1717-24156C>A (n.1717-24156C>A) c.2341-3C>A (n.2341-3C>A) c.1891-3C>A (n.1891-3C>A) c.1099-3C>A (n.1099-3C>A) | gnomAD v4 |
8 | g.60838073C>G | CA2695209701 | CHD7 | c.4354-3C>G (n.4354-3C>G) c.1717-24156C>G (n.1717-24156C>G) c.2341-3C>G (n.2341-3C>G) c.1891-3C>G (n.1891-3C>G) c.1099-3C>G (n.1099-3C>G) | |
8 | g.60838073dup | CA2687399295 | CHD7 | c.4354-3dup (n.4354-3dup) c.1717-24156dup (n.1717-24156dup) c.2341-3dup (n.2341-3dup) c.1891-3dup (n.1891-3dup) c.1099-3dup (n.1099-3dup) | gnomAD v4 |
8 | g.60838074A>C | CA371318032 | CHD7 | c.4354-2A>C (n.4354-2A>C) c.1717-24155A>C (n.1717-24155A>C) c.2341-2A>C (n.2341-2A>C) c.1891-2A>C (n.1891-2A>C) c.1099-2A>C (n.1099-2A>C) | |
8 | g.60838074A>G | CA371318033 | CHD7 | c.4354-2A>G (n.4354-2A>G) c.1717-24155A>G (n.1717-24155A>G) c.2341-2A>G (n.2341-2A>G) c.1891-2A>G (n.1891-2A>G) c.1099-2A>G (n.1099-2A>G) | gnomAD v4 |
8 | g.60838074A>T | CA371318034 | CHD7 | c.4354-2A>T (n.4354-2A>T) c.1717-24155A>T (n.1717-24155A>T) c.2341-2A>T (n.2341-2A>T) c.1891-2A>T (n.1891-2A>T) c.1099-2A>T (n.1099-2A>T) | |
8 | g.60838075G>A | CA371318036 | CHD7 | c.4354-1G>A (n.4354-1G>A) c.1717-24154G>A (n.1717-24154G>A) c.2341-1G>A (n.2341-1G>A) c.1891-1G>A (n.1891-1G>A) c.1099-1G>A (n.1099-1G>A) | ClinVar dbSNP |
8 | g.60838075G>C | CA371318037 | CHD7 | c.4354-1G>C (n.4354-1G>C) c.1717-24154G>C (n.1717-24154G>C) c.2341-1G>C (n.2341-1G>C) c.1891-1G>C (n.1891-1G>C) c.1099-1G>C (n.1099-1G>C) | |
8 | g.60838075G>T | CA371318035 | CHD7 | c.4354-1G>T (n.4354-1G>T) c.1717-24154G>T (n.1717-24154G>T) c.2341-1G>T (n.2341-1G>T) c.1891-1G>T (n.1891-1G>T) c.1099-1G>T (n.1099-1G>T) | |
8 | g.60838076G>A | CA177348649 | CHD7 | c.4354G>A (p.Val1452Ile) c.1717-24153G>A (n.1717-24153G>A) c.2341G>A (p.Val781Ile) c.1891G>A (p.Val631Ile) c.1099G>A (p.Val367Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60838076G>C | CA371318038 | CHD7 | c.4354G>C (p.Val1452Leu) c.1717-24153G>C (n.1717-24153G>C) c.2341G>C (p.Val781Leu) c.1891G>C (p.Val631Leu) c.1099G>C (p.Val367Leu) | |
8 | g.60838076G= | CA1788116015 | CHD7 | c.4354G= (p.Val1452=) c.1717-24153G= (n.1717-24153G=) c.2341G= (p.Val781=) c.1891G= (p.Val631=) c.1099G= (p.Val367=) | |
8 | g.60838076G>T | CA371318039 | CHD7 | c.4354G>T (p.Val1452Leu) c.1717-24153G>T (n.1717-24153G>T) c.2341G>T (p.Val781Leu) c.1891G>T (p.Val631Leu) c.1099G>T (p.Val367Leu) | |
8 | g.60838077T>A | CA371318040 | CHD7 | c.4355T>A (p.Val1452Glu) c.1717-24152T>A (n.1717-24152T>A) c.2342T>A (p.Val781Glu) c.1892T>A (p.Val631Glu) c.1100T>A (p.Val367Glu) | |
8 | g.60838077T>C | CA371318041 | CHD7 | c.4355T>C (p.Val1452Ala) c.1717-24152T>C (n.1717-24152T>C) c.2342T>C (p.Val781Ala) c.1892T>C (p.Val631Ala) c.1100T>C (p.Val367Ala) | |
8 | g.60838077T>G | CA371318042 | CHD7 | c.4355T>G (p.Val1452Gly) c.1717-24152T>G (n.1717-24152T>G) c.2342T>G (p.Val781Gly) c.1892T>G (p.Val631Gly) c.1100T>G (p.Val367Gly) | |
8 | g.60838078A>C | CA460847159 | CHD7 | c.4356A>C (p.Val1452=) c.1717-24151A>C (n.1717-24151A>C) c.2343A>C (p.Val781=) c.1893A>C (p.Val631=) c.1101A>C (p.Val367=) | |
8 | g.60838078A>G | CA460847160 | CHD7 | c.4356A>G (p.Val1452=) c.1717-24151A>G (n.1717-24151A>G) c.2343A>G (p.Val781=) c.1893A>G (p.Val631=) c.1101A>G (p.Val367=) | gnomAD v4 |
8 | g.60838078A>T | CA460847161 | CHD7 | c.4356A>T (p.Val1452=) c.1717-24151A>T (n.1717-24151A>T) c.2343A>T (p.Val781=) c.1893A>T (p.Val631=) c.1101A>T (p.Val367=) | |
8 | g.60838079_60838080dup | CA2695209702 | CHD7 | c.4357_4358dup (p.Gln1453HisfsTer9) c.1717-24150_1717-24149dup (n.1717-24150_1717-24149dup) c.2344_2345dup (p.Gln782HisfsTer9) c.1894_1895dup (p.Gln632HisfsTer9) c.1102_1103dup (p.Gln368HisfsTer9) | |
8 | g.60838079C>A | CA371318043 | CHD7 | c.4357C>A (p.Gln1453Lys) c.1717-24150C>A (n.1717-24150C>A) c.2344C>A (p.Gln782Lys) c.1894C>A (p.Gln632Lys) c.1102C>A (p.Gln368Lys) | |
8 | g.60838079C>G | CA371318044 | CHD7 | c.4357C>G (p.Gln1453Glu) c.1717-24150C>G (n.1717-24150C>G) c.2344C>G (p.Gln782Glu) c.1894C>G (p.Gln632Glu) c.1102C>G (p.Gln368Glu) | |
8 | g.60838079C>T | CA371318045 | CHD7 | c.4357C>T (p.Gln1453Ter) c.1717-24150C>T (n.1717-24150C>T) c.2344C>T (p.Gln782Ter) c.1894C>T (p.Gln632Ter) c.1102C>T (p.Gln368Ter) | |
8 | g.60838080A>C | CA371318046 | CHD7 | c.4358A>C (p.Gln1453Pro) c.1717-24149A>C (n.1717-24149A>C) c.2345A>C (p.Gln782Pro) c.1895A>C (p.Gln632Pro) c.1103A>C (p.Gln368Pro) | |
8 | g.60838080A>G | CA371318047 | CHD7 | c.4358A>G (p.Gln1453Arg) c.1717-24149A>G (n.1717-24149A>G) c.2345A>G (p.Gln782Arg) c.1895A>G (p.Gln632Arg) c.1103A>G (p.Gln368Arg) | |
8 | g.60838080A>T | CA371318048 | CHD7 | c.4358A>T (p.Gln1453Leu) c.1717-24149A>T (n.1717-24149A>T) c.2345A>T (p.Gln782Leu) c.1895A>T (p.Gln632Leu) c.1103A>T (p.Gln368Leu) | |
8 | g.60838081A= | CA1788116020 | CHD7 | c.4359A= (p.Gln1453=) c.1717-24148A= (n.1717-24148A=) c.2346A= (p.Gln782=) c.1896A= (p.Gln632=) c.1104A= (p.Gln368=) | |
8 | g.60838081A>C | CA371318050 | CHD7 | c.4359A>C (p.Gln1453His) c.1717-24148A>C (n.1717-24148A>C) c.2346A>C (p.Gln782His) c.1896A>C (p.Gln632His) c.1104A>C (p.Gln368His) | |
8 | g.60838081A>G | CA4760122 | CHD7 | c.4359A>G (p.Gln1453=) c.1717-24148A>G (n.1717-24148A>G) c.2346A>G (p.Gln782=) c.1896A>G (p.Gln632=) c.1104A>G (p.Gln368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60838081A>T | CA371318049 | CHD7 | c.4359A>T (p.Gln1453His) c.1717-24148A>T (n.1717-24148A>T) c.2346A>T (p.Gln782His) c.1896A>T (p.Gln632His) c.1104A>T (p.Gln368His) | |
8 | g.60838082C>A | CA371318051 | CHD7 | c.4360C>A (p.Gln1454Lys) c.1717-24147C>A (n.1717-24147C>A) c.2347C>A (p.Gln783Lys) c.1897C>A (p.Gln633Lys) c.1105C>A (p.Gln369Lys) | gnomAD v4 |
8 | g.60838082C>G | CA371318052 | CHD7 | c.4360C>G (p.Gln1454Glu) c.1717-24147C>G (n.1717-24147C>G) c.2347C>G (p.Gln783Glu) c.1897C>G (p.Gln633Glu) c.1105C>G (p.Gln369Glu) | |
8 | g.60838082C>T | CA371318053 | CHD7 | c.4360C>T (p.Gln1454Ter) c.1717-24147C>T (n.1717-24147C>T) c.2347C>T (p.Gln783Ter) c.1897C>T (p.Gln633Ter) c.1105C>T (p.Gln369Ter) | ClinVar dbSNP |
8 | g.60838083A>C | CA371318054 | CHD7 | c.4361A>C (p.Gln1454Pro) c.1717-24146A>C (n.1717-24146A>C) c.2348A>C (p.Gln783Pro) c.1898A>C (p.Gln633Pro) c.1106A>C (p.Gln369Pro) | |
8 | g.60838083A>G | CA371318055 | CHD7 | c.4361A>G (p.Gln1454Arg) c.1717-24146A>G (n.1717-24146A>G) c.2348A>G (p.Gln783Arg) c.1898A>G (p.Gln633Arg) c.1106A>G (p.Gln369Arg) | |
8 | g.60838083A>T | CA371318056 | CHD7 | c.4361A>T (p.Gln1454Leu) c.1717-24146A>T (n.1717-24146A>T) c.2348A>T (p.Gln783Leu) c.1898A>T (p.Gln633Leu) c.1106A>T (p.Gln369Leu) | |
8 | g.60838083_60838084del | CA2695209704 | CHD7 | c.4361_4362del (p.Gln1454ProfsTer21) c.1717-24146_1717-24145del (n.1717-24146_1717-24145del) c.2348_2349del (p.Gln783ProfsTer21) c.1898_1899del (p.Gln633ProfsTer21) c.1106_1107del (p.Gln369ProfsTer21) | |
8 | g.60838084G>A | CA460847162 | CHD7 | c.4362G>A (p.Gln1454=) c.1717-24145G>A (n.1717-24145G>A) c.2349G>A (p.Gln783=) c.1899G>A (p.Gln633=) c.1107G>A (p.Gln369=) | |
8 | g.60838084G>C | CA371318057 | CHD7 | c.4362G>C (p.Gln1454His) c.1717-24145G>C (n.1717-24145G>C) c.2349G>C (p.Gln783His) c.1899G>C (p.Gln633His) c.1107G>C (p.Gln369His) | |
8 | g.60838084G= | CA1788116026 | CHD7 | c.4362G= (p.Gln1454=) c.1717-24145G= (n.1717-24145G=) c.2349G= (p.Gln783=) c.1899G= (p.Gln633=) c.1107G= (p.Gln369=) | |
8 | g.60838084G>T | CA4760123 | CHD7 | c.4362G>T (p.Gln1454His) c.1717-24145G>T (n.1717-24145G>T) c.2349G>T (p.Gln783His) c.1899G>T (p.Gln633His) c.1107G>T (p.Gln369His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60838085C>A | CA371318058 | CHD7 | c.4363C>A (p.Leu1455Ile) c.1717-24144C>A (n.1717-24144C>A) c.2350C>A (p.Leu784Ile) c.1900C>A (p.Leu634Ile) c.1108C>A (p.Leu370Ile) | gnomAD v4 |
8 | g.60838085C>G | CA371318059 | CHD7 | c.4363C>G (p.Leu1455Val) c.1717-24144C>G (n.1717-24144C>G) c.2350C>G (p.Leu784Val) c.1900C>G (p.Leu634Val) c.1108C>G (p.Leu370Val) | |
8 | g.60838085C>T | CA371318060 | CHD7 | c.4363C>T (p.Leu1455Phe) c.1717-24144C>T (n.1717-24144C>T) c.2350C>T (p.Leu784Phe) c.1900C>T (p.Leu634Phe) c.1108C>T (p.Leu370Phe) | |
8 | g.60838086T>A | CA371318061 | CHD7 | c.4364T>A (p.Leu1455His) c.1717-24143T>A (n.1717-24143T>A) c.2351T>A (p.Leu784His) c.1901T>A (p.Leu634His) c.1109T>A (p.Leu370His) | |
8 | g.60838086T>C | CA371318062 | CHD7 | c.4364T>C (p.Leu1455Pro) c.1717-24143T>C (n.1717-24143T>C) c.2351T>C (p.Leu784Pro) c.1901T>C (p.Leu634Pro) c.1109T>C (p.Leu370Pro) | |
8 | g.60838086T>G | CA371318063 | CHD7 | c.4364T>G (p.Leu1455Arg) c.1717-24143T>G (n.1717-24143T>G) c.2351T>G (p.Leu784Arg) c.1901T>G (p.Leu634Arg) c.1109T>G (p.Leu370Arg) | |
8 | g.60838087T>A | CA460847163 | CHD7 | c.4365T>A (p.Leu1455=) c.1717-24142T>A (n.1717-24142T>A) c.2352T>A (p.Leu784=) c.1902T>A (p.Leu634=) c.1110T>A (p.Leu370=) | |
8 | g.60838087T>C | CA460847164 | CHD7 | c.4365T>C (p.Leu1455=) c.1717-24142T>C (n.1717-24142T>C) c.2352T>C (p.Leu784=) c.1902T>C (p.Leu634=) c.1110T>C (p.Leu370=) | gnomAD v4 |
8 | g.60838087T>G | CA460847165 | CHD7 | c.4365T>G (p.Leu1455=) c.1717-24142T>G (n.1717-24142T>G) c.2352T>G (p.Leu784=) c.1902T>G (p.Leu634=) c.1110T>G (p.Leu370=) | |
8 | g.60838088T>A | CA371318065 | CHD7 | c.4366T>A (p.Ser1456Thr) c.1717-24141T>A (n.1717-24141T>A) c.2353T>A (p.Ser785Thr) c.1903T>A (p.Ser635Thr) c.1111T>A (p.Ser371Thr) | |
8 | g.60838088T>C | CA371318066 | CHD7 | c.4366T>C (p.Ser1456Pro) c.1717-24141T>C (n.1717-24141T>C) c.2353T>C (p.Ser785Pro) c.1903T>C (p.Ser635Pro) c.1111T>C (p.Ser371Pro) | |
8 | g.60838088T>G | CA371318064 | CHD7 | c.4366T>G (p.Ser1456Ala) c.1717-24141T>G (n.1717-24141T>G) c.2353T>G (p.Ser785Ala) c.1903T>G (p.Ser635Ala) c.1111T>G (p.Ser371Ala) | |
8 | g.60838089C>A | CA371318067 | CHD7 | c.4367C>A (p.Ser1456Tyr) c.1717-24140C>A (n.1717-24140C>A) c.2354C>A (p.Ser785Tyr) c.1904C>A (p.Ser635Tyr) c.1112C>A (p.Ser371Tyr) | |
8 | g.60838089C>G | CA371318068 | CHD7 | c.4367C>G (p.Ser1456Cys) c.1717-24140C>G (n.1717-24140C>G) c.2354C>G (p.Ser785Cys) c.1904C>G (p.Ser635Cys) c.1112C>G (p.Ser371Cys) | |
8 | g.60838089C>T | CA371318069 | CHD7 | c.4367C>T (p.Ser1456Phe) c.1717-24140C>T (n.1717-24140C>T) c.2354C>T (p.Ser785Phe) c.1904C>T (p.Ser635Phe) c.1112C>T (p.Ser371Phe) | |
8 | g.60838090C>A | CA460847167 | CHD7 | c.4368C>A (p.Ser1456=) c.1717-24139C>A (n.1717-24139C>A) c.2355C>A (p.Ser785=) c.1905C>A (p.Ser635=) c.1113C>A (p.Ser371=) | |
8 | g.60838090C>G | CA460847168 | CHD7 | c.4368C>G (p.Ser1456=) c.1717-24139C>G (n.1717-24139C>G) c.2355C>G (p.Ser785=) c.1905C>G (p.Ser635=) c.1113C>G (p.Ser371=) | |
8 | g.60838090C>T | CA460847166 | CHD7 | c.4368C>T (p.Ser1456=) c.1717-24139C>T (n.1717-24139C>T) c.2355C>T (p.Ser785=) c.1905C>T (p.Ser635=) c.1113C>T (p.Ser371=) | gnomAD v4 |
8 | g.60838091A>C | CA371318070 | CHD7 | c.4369A>C (p.Lys1457Gln) c.1717-24138A>C (n.1717-24138A>C) c.2356A>C (p.Lys786Gln) c.1906A>C (p.Lys636Gln) c.1114A>C (p.Lys372Gln) | |
8 | g.60838091A>G | CA371318071 | CHD7 | c.4369A>G (p.Lys1457Glu) c.1717-24138A>G (n.1717-24138A>G) c.2356A>G (p.Lys786Glu) c.1906A>G (p.Lys636Glu) c.1114A>G (p.Lys372Glu) | |
8 | g.60838091A>T | CA371318072 | CHD7 | c.4369A>T (p.Lys1457Ter) c.1717-24138A>T (n.1717-24138A>T) c.2356A>T (p.Lys786Ter) c.1906A>T (p.Lys636Ter) c.1114A>T (p.Lys372Ter) | |
8 | g.60838092A>C | CA371318075 | CHD7 | c.4370A>C (p.Lys1457Thr) c.1717-24137A>C (n.1717-24137A>C) c.2357A>C (p.Lys786Thr) c.1907A>C (p.Lys636Thr) c.1115A>C (p.Lys372Thr) | |
8 | g.60838092A>G | CA371318073 | CHD7 | c.4370A>G (p.Lys1457Arg) c.1717-24137A>G (n.1717-24137A>G) c.2357A>G (p.Lys786Arg) c.1907A>G (p.Lys636Arg) c.1115A>G (p.Lys372Arg) | gnomAD v4 |
8 | g.60838092A>T | CA371318074 | CHD7 | c.4370A>T (p.Lys1457Met) c.1717-24137A>T (n.1717-24137A>T) c.2357A>T (p.Lys786Met) c.1907A>T (p.Lys636Met) c.1115A>T (p.Lys372Met) | |
8 | g.60838093G>A | CA460847169 | CHD7 | c.4371G>A (p.Lys1457=) c.1717-24136G>A (n.1717-24136G>A) c.2358G>A (p.Lys786=) c.1908G>A (p.Lys636=) c.1116G>A (p.Lys372=) | |
8 | g.60838093G>C | CA371318076 | CHD7 | c.4371G>C (p.Lys1457Asn) c.1717-24136G>C (n.1717-24136G>C) c.2358G>C (p.Lys786Asn) c.1908G>C (p.Lys636Asn) c.1116G>C (p.Lys372Asn) | |
8 | g.60838093G>T | CA371318077 | CHD7 | c.4371G>T (p.Lys1457Asn) c.1717-24136G>T (n.1717-24136G>T) c.2358G>T (p.Lys786Asn) c.1908G>T (p.Lys636Asn) c.1116G>T (p.Lys372Asn) | |
8 | g.60838094A>C | CA371318078 | CHD7 | c.4372A>C (p.Lys1458Gln) c.1717-24135A>C (n.1717-24135A>C) c.2359A>C (p.Lys787Gln) c.1909A>C (p.Lys637Gln) c.1117A>C (p.Lys373Gln) | |
8 | g.60838094A>G | CA371318079 | CHD7 | c.4372A>G (p.Lys1458Glu) c.1717-24135A>G (n.1717-24135A>G) c.2359A>G (p.Lys787Glu) c.1909A>G (p.Lys637Glu) c.1117A>G (p.Lys373Glu) | |
8 | g.60838094A>T | CA371318080 | CHD7 | c.4372A>T (p.Lys1458Ter) c.1717-24135A>T (n.1717-24135A>T) c.2359A>T (p.Lys787Ter) c.1909A>T (p.Lys637Ter) c.1117A>T (p.Lys373Ter) | |
8 | g.60838095A>C | CA371318083 | CHD7 | c.4373A>C (p.Lys1458Thr) c.1717-24134A>C (n.1717-24134A>C) c.2360A>C (p.Lys787Thr) c.1910A>C (p.Lys637Thr) c.1118A>C (p.Lys373Thr) | |
8 | g.60838095A>G | CA371318081 | CHD7 | c.4373A>G (p.Lys1458Arg) c.1717-24134A>G (n.1717-24134A>G) c.2360A>G (p.Lys787Arg) c.1910A>G (p.Lys637Arg) c.1118A>G (p.Lys373Arg) | |
8 | g.60838095A>T | CA371318082 | CHD7 | c.4373A>T (p.Lys1458Ile) c.1717-24134A>T (n.1717-24134A>T) c.2360A>T (p.Lys787Ile) c.1910A>T (p.Lys637Ile) c.1118A>T (p.Lys373Ile) | |
8 | g.60838096A>C | CA371318084 | CHD7 | c.4374A>C (p.Lys1458Asn) c.1717-24133A>C (n.1717-24133A>C) c.2361A>C (p.Lys787Asn) c.1911A>C (p.Lys637Asn) c.1119A>C (p.Lys373Asn) | |
8 | g.60838096A>G | CA460847170 | CHD7 | c.4374A>G (p.Lys1458=) c.1717-24133A>G (n.1717-24133A>G) c.2361A>G (p.Lys787=) c.1911A>G (p.Lys637=) c.1119A>G (p.Lys373=) | COSMIC |
8 | g.60838096A>T | CA371318085 | CHD7 | c.4374A>T (p.Lys1458Asn) c.1717-24133A>T (n.1717-24133A>T) c.2361A>T (p.Lys787Asn) c.1911A>T (p.Lys637Asn) c.1119A>T (p.Lys373Asn) | |
8 | g.60838097G>A | CA371318086 | CHD7 | c.4375G>A (p.Glu1459Lys) c.1717-24132G>A (n.1717-24132G>A) c.2362G>A (p.Glu788Lys) c.1912G>A (p.Glu638Lys) c.1120G>A (p.Glu374Lys) | |
8 | g.60838097G>C | CA371318087 | CHD7 | c.4375G>C (p.Glu1459Gln) c.1717-24132G>C (n.1717-24132G>C) c.2362G>C (p.Glu788Gln) c.1912G>C (p.Glu638Gln) c.1120G>C (p.Glu374Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60838097G= | CA1788116030 | CHD7 | c.4375G= (p.Glu1459=) c.1717-24132G= (n.1717-24132G=) c.2362G= (p.Glu788=) c.1912G= (p.Glu638=) c.1120G= (p.Glu374=) | |
8 | g.60838097G>T | CA371318088 | CHD7 | c.4375G>T (p.Glu1459Ter) c.1717-24132G>T (n.1717-24132G>T) c.2362G>T (p.Glu788Ter) c.1912G>T (p.Glu638Ter) c.1120G>T (p.Glu374Ter) | ClinVar |
8 | g.60838098A>C | CA371318089 | CHD7 | c.4376A>C (p.Glu1459Ala) c.1717-24131A>C (n.1717-24131A>C) c.2363A>C (p.Glu788Ala) c.1913A>C (p.Glu638Ala) c.1121A>C (p.Glu374Ala) | |
8 | g.60838098A>G | CA371318090 | CHD7 | c.4376A>G (p.Glu1459Gly) c.1717-24131A>G (n.1717-24131A>G) c.2363A>G (p.Glu788Gly) c.1913A>G (p.Glu638Gly) c.1121A>G (p.Glu374Gly) | |
8 | g.60838098A>T | CA371318091 | CHD7 | c.4376A>T (p.Glu1459Val) c.1717-24131A>T (n.1717-24131A>T) c.2363A>T (p.Glu788Val) c.1913A>T (p.Glu638Val) c.1121A>T (p.Glu374Val) | |
8 | g.60838100del | CA2573053036 | CHD7 | c.4378del (p.Ile1460Ter) c.1717-24129del (n.1717-24129del) c.2365del (p.Ile789Ter) c.1915del (p.Ile639Ter) c.1123del (p.Ile375Ter) | dbSNP |
8 | g.60838099A= | CA1788116035 | CHD7 | c.4377A= (p.Glu1459=) c.1717-24130A= (n.1717-24130A=) c.2364A= (p.Glu788=) c.1914A= (p.Glu638=) c.1122A= (p.Glu374=) | |
8 | g.60838099A>C | CA371318092 | CHD7 | c.4377A>C (p.Glu1459Asp) c.1717-24130A>C (n.1717-24130A>C) c.2364A>C (p.Glu788Asp) c.1914A>C (p.Glu638Asp) c.1122A>C (p.Glu374Asp) | |
8 | g.60838099A>G | CA460847171 | CHD7 | c.4377A>G (p.Glu1459=) c.1717-24130A>G (n.1717-24130A>G) c.2364A>G (p.Glu788=) c.1914A>G (p.Glu638=) c.1122A>G (p.Glu374=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60838099A>T | CA371318093 | CHD7 | c.4377A>T (p.Glu1459Asp) c.1717-24130A>T (n.1717-24130A>T) c.2364A>T (p.Glu788Asp) c.1914A>T (p.Glu638Asp) c.1122A>T (p.Glu374Asp) | |
8 | g.60838099_60838101delinsAAT | CA1788116033 | CHD7 | c.4377_4379delinsAAT (p.Glu1459=) c.1717-24130_1717-24128delinsAAT (n.1717-24130_1717-24128delinsAAT) c.2364_2366delinsAAT (p.Glu788=) c.1914_1916delinsAAT (p.Glu638=) c.1122_1124delinsAAT (p.Glu374=) | |
8 | g.60838100A>C | CA371318094 | CHD7 | c.4378A>C (p.Ile1460Leu) c.1717-24129A>C (n.1717-24129A>C) c.2365A>C (p.Ile789Leu) c.1915A>C (p.Ile639Leu) c.1123A>C (p.Ile375Leu) | |
8 | g.60838100A>G | CA371318095 | CHD7 | c.4378A>G (p.Ile1460Val) c.1717-24129A>G (n.1717-24129A>G) c.2365A>G (p.Ile789Val) c.1915A>G (p.Ile639Val) c.1123A>G (p.Ile375Val) | gnomAD v4 |
8 | g.60838100A>T | CA371318096 | CHD7 | c.4378A>T (p.Ile1460Leu) c.1717-24129A>T (n.1717-24129A>T) c.2365A>T (p.Ile789Leu) c.1915A>T (p.Ile639Leu) c.1123A>T (p.Ile375Leu) | |
8 | g.60838101_60838102del | CA223299 | CHD7 | c.4379_4380del (p.Ile1460ArgfsTer15) c.1717-24128_1717-24127del (n.1717-24128_1717-24127del) c.2366_2367del (p.Ile789ArgfsTer15) c.1916_1917del (p.Ile639ArgfsTer15) c.1124_1125del (p.Ile375ArgfsTer15) | ClinVar dbSNP |
8 | g.60838101T>A | CA371318097 | CHD7 | c.4379T>A (p.Ile1460Lys) c.1717-24128T>A (n.1717-24128T>A) c.2366T>A (p.Ile789Lys) c.1916T>A (p.Ile639Lys) c.1124T>A (p.Ile375Lys) | |
8 | g.60838101T>C | CA371318098 | CHD7 | c.4379T>C (p.Ile1460Thr) c.1717-24128T>C (n.1717-24128T>C) c.2366T>C (p.Ile789Thr) c.1916T>C (p.Ile639Thr) c.1124T>C (p.Ile375Thr) | |
8 | g.60838101T>G | CA371318099 | CHD7 | c.4379T>G (p.Ile1460Arg) c.1717-24128T>G (n.1717-24128T>G) c.2366T>G (p.Ile789Arg) c.1916T>G (p.Ile639Arg) c.1124T>G (p.Ile375Arg) | |
8 | g.60838102A= | CA1788116044 | CHD7 | c.4380A= (p.Ile1460=) c.1717-24127A= (n.1717-24127A=) c.2367A= (p.Ile789=) c.1917A= (p.Ile639=) c.1125A= (p.Ile375=) | |
8 | g.60838102A>C | CA460847173 | CHD7 | c.4380A>C (p.Ile1460=) c.1717-24127A>C (n.1717-24127A>C) c.2367A>C (p.Ile789=) c.1917A>C (p.Ile639=) c.1125A>C (p.Ile375=) | |
8 | g.60838102A>G | CA371318100 | CHD7 | c.4380A>G (p.Ile1460Met) c.1717-24127A>G (n.1717-24127A>G) c.2367A>G (p.Ile789Met) c.1917A>G (p.Ile639Met) c.1125A>G (p.Ile375Met) | |
8 | g.60838102A>T | CA460847172 | CHD7 | c.4380A>T (p.Ile1460=) c.1717-24127A>T (n.1717-24127A>T) c.2367A>T (p.Ile789=) c.1917A>T (p.Ile639=) c.1125A>T (p.Ile375=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60838103G>A | CA371318101 | CHD7 | c.4381G>A (p.Glu1461Lys) c.1717-24126G>A (n.1717-24126G>A) c.2368G>A (p.Glu790Lys) c.1918G>A (p.Glu640Lys) c.1126G>A (p.Glu376Lys) | |
8 | g.60838103G>C | CA371318102 | CHD7 | c.4381G>C (p.Glu1461Gln) c.1717-24126G>C (n.1717-24126G>C) c.2368G>C (p.Glu790Gln) c.1918G>C (p.Glu640Gln) c.1126G>C (p.Glu376Gln) | COSMIC |
8 | g.60838103G= | CA1788116049 | CHD7 | c.4381G= (p.Glu1461=) c.1717-24126G= (n.1717-24126G=) c.2368G= (p.Glu790=) c.1918G= (p.Glu640=) c.1126G= (p.Glu376=) | |
8 | g.60838103G>T | CA371318103 | CHD7 | c.4381G>T (p.Glu1461Ter) c.1717-24126G>T (n.1717-24126G>T) c.2368G>T (p.Glu790Ter) c.1918G>T (p.Glu640Ter) c.1126G>T (p.Glu376Ter) | dbSNP gnomAD v2 |
8 | g.60838104A>C | CA371318104 | CHD7 | c.4382A>C (p.Glu1461Ala) c.1717-24125A>C (n.1717-24125A>C) c.2369A>C (p.Glu790Ala) c.1919A>C (p.Glu640Ala) c.1127A>C (p.Glu376Ala) | |
8 | g.60838104A>G | CA371318105 | CHD7 | c.4382A>G (p.Glu1461Gly) c.1717-24125A>G (n.1717-24125A>G) c.2369A>G (p.Glu790Gly) c.1919A>G (p.Glu640Gly) c.1127A>G (p.Glu376Gly) | |
8 | g.60838104A>T | CA371318106 | CHD7 | c.4382A>T (p.Glu1461Val) c.1717-24125A>T (n.1717-24125A>T) c.2369A>T (p.Glu790Val) c.1919A>T (p.Glu640Val) c.1127A>T (p.Glu376Val) | |
8 | g.60838105G>A | CA460847174 | CHD7 | c.4383G>A (p.Glu1461=) c.1717-24124G>A (n.1717-24124G>A) c.2370G>A (p.Glu790=) c.1920G>A (p.Glu640=) c.1128G>A (p.Glu376=) | |
8 | g.60838105G>C | CA371318107 | CHD7 | c.4383G>C (p.Glu1461Asp) c.1717-24124G>C (n.1717-24124G>C) c.2370G>C (p.Glu790Asp) c.1920G>C (p.Glu640Asp) c.1128G>C (p.Glu376Asp) | |
8 | g.60838105G>T | CA371318108 | CHD7 | c.4383G>T (p.Glu1461Asp) c.1717-24124G>T (n.1717-24124G>T) c.2370G>T (p.Glu790Asp) c.1920G>T (p.Glu640Asp) c.1128G>T (p.Glu376Asp) | |
8 | g.60838106G>A | CA371318109 | CHD7 | c.4384G>A (p.Asp1462Asn) c.1717-24123G>A (n.1717-24123G>A) c.2371G>A (p.Asp791Asn) c.1921G>A (p.Asp641Asn) c.1129G>A (p.Asp377Asn) | |
8 | g.60838106G>C | CA371318110 | CHD7 | c.4384G>C (p.Asp1462His) c.1717-24123G>C (n.1717-24123G>C) c.2371G>C (p.Asp791His) c.1921G>C (p.Asp641His) c.1129G>C (p.Asp377His) | |
8 | g.60838106G>T | CA371318111 | CHD7 | c.4384G>T (p.Asp1462Tyr) c.1717-24123G>T (n.1717-24123G>T) c.2371G>T (p.Asp791Tyr) c.1921G>T (p.Asp641Tyr) c.1129G>T (p.Asp377Tyr) | gnomAD v4 |
8 | g.60838107A= | CA1788116052 | CHD7 | c.4385A= (p.Asp1462=) c.1717-24122A= (n.1717-24122A=) c.2372A= (p.Asp791=) c.1922A= (p.Asp641=) c.1130A= (p.Asp377=) | |
8 | g.60838107A>C | CA371318113 | CHD7 | c.4385A>C (p.Asp1462Ala) c.1717-24122A>C (n.1717-24122A>C) c.2372A>C (p.Asp791Ala) c.1922A>C (p.Asp641Ala) c.1130A>C (p.Asp377Ala) | |
8 | g.60838107A>G | CA4760124 | CHD7 | c.4385A>G (p.Asp1462Gly) c.1717-24122A>G (n.1717-24122A>G) c.2372A>G (p.Asp791Gly) c.1922A>G (p.Asp641Gly) c.1130A>G (p.Asp377Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60838107A>T | CA371318112 | CHD7 | c.4385A>T (p.Asp1462Val) c.1717-24122A>T (n.1717-24122A>T) c.2372A>T (p.Asp791Val) c.1922A>T (p.Asp641Val) c.1130A>T (p.Asp377Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60838108T>A | CA371318114 | CHD7 | c.4386T>A (p.Asp1462Glu) c.1717-24121T>A (n.1717-24121T>A) c.2373T>A (p.Asp791Glu) c.1923T>A (p.Asp641Glu) c.1131T>A (p.Asp377Glu) | |
8 | g.60838108T>C | CA460847175 | CHD7 | c.4386T>C (p.Asp1462=) c.1717-24121T>C (n.1717-24121T>C) c.2373T>C (p.Asp791=) c.1923T>C (p.Asp641=) c.1131T>C (p.Asp377=) | |
8 | g.60838108T>G | CA371318115 | CHD7 | c.4386T>G (p.Asp1462Glu) c.1717-24121T>G (n.1717-24121T>G) c.2373T>G (p.Asp791Glu) c.1923T>G (p.Asp641Glu) c.1131T>G (p.Asp377Glu) | |
8 | g.60838109C>A | CA371318116 | CHD7 | c.4387C>A (p.Leu1463Ile) c.1717-24120C>A (n.1717-24120C>A) c.2374C>A (p.Leu792Ile) c.1924C>A (p.Leu642Ile) c.1132C>A (p.Leu378Ile) | gnomAD v4 |
8 | g.60838109C>G | CA371318117 | CHD7 | c.4387C>G (p.Leu1463Val) c.1717-24120C>G (n.1717-24120C>G) c.2374C>G (p.Leu792Val) c.1924C>G (p.Leu642Val) c.1132C>G (p.Leu378Val) | |
8 | g.60838109C>T | CA371318118 | CHD7 | c.4387C>T (p.Leu1463Phe) c.1717-24120C>T (n.1717-24120C>T) c.2374C>T (p.Leu792Phe) c.1924C>T (p.Leu642Phe) c.1132C>T (p.Leu378Phe) | |
8 | g.60838110T>A | CA371318119 | CHD7 | c.4388T>A (p.Leu1463His) c.1717-24119T>A (n.1717-24119T>A) c.2375T>A (p.Leu792His) c.1925T>A (p.Leu642His) c.1133T>A (p.Leu378His) | |
8 | g.60838110T>C | CA371318120 | CHD7 | c.4388T>C (p.Leu1463Pro) c.1717-24119T>C (n.1717-24119T>C) c.2375T>C (p.Leu792Pro) c.1925T>C (p.Leu642Pro) c.1133T>C (p.Leu378Pro) | ClinVar dbSNP |
8 | g.60838110T>G | CA371318121 | CHD7 | c.4388T>G (p.Leu1463Arg) c.1717-24119T>G (n.1717-24119T>G) c.2375T>G (p.Leu792Arg) c.1925T>G (p.Leu642Arg) c.1133T>G (p.Leu378Arg) | |
8 | g.60838111T>A | CA460847178 | CHD7 | c.4389T>A (p.Leu1463=) c.1717-24118T>A (n.1717-24118T>A) c.2376T>A (p.Leu792=) c.1926T>A (p.Leu642=) c.1134T>A (p.Leu378=) | |
8 | g.60838111T>C | CA460847177 | CHD7 | c.4389T>C (p.Leu1463=) c.1717-24118T>C (n.1717-24118T>C) c.2376T>C (p.Leu792=) c.1926T>C (p.Leu642=) c.1134T>C (p.Leu378=) | |
8 | g.60838111T>G | CA460847176 | CHD7 | c.4389T>G (p.Leu1463=) c.1717-24118T>G (n.1717-24118T>G) c.2376T>G (p.Leu792=) c.1926T>G (p.Leu642=) c.1134T>G (p.Leu378=) | |
8 | g.60838112C>A | CA371318122 | CHD7 | c.4390C>A (p.Leu1464Ile) c.1717-24117C>A (n.1717-24117C>A) c.2377C>A (p.Leu793Ile) c.1927C>A (p.Leu643Ile) c.1135C>A (p.Leu379Ile) | |
8 | g.60838112C>G | CA371318123 | CHD7 | c.4390C>G (p.Leu1464Val) c.1717-24117C>G (n.1717-24117C>G) c.2377C>G (p.Leu793Val) c.1927C>G (p.Leu643Val) c.1135C>G (p.Leu379Val) | |
8 | g.60838112C>T | CA460847179 | CHD7 | c.4390C>T (p.Leu1464=) c.1717-24117C>T (n.1717-24117C>T) c.2377C>T (p.Leu793=) c.1927C>T (p.Leu643=) c.1135C>T (p.Leu379=) | |
8 | g.60838113T>A | CA371318124 | CHD7 | c.4391T>A (p.Leu1464Gln) c.1717-24116T>A (n.1717-24116T>A) c.2378T>A (p.Leu793Gln) c.1928T>A (p.Leu643Gln) c.1136T>A (p.Leu379Gln) | |
8 | g.60838113T>C | CA371318125 | CHD7 | c.4391T>C (p.Leu1464Pro) c.1717-24116T>C (n.1717-24116T>C) c.2378T>C (p.Leu793Pro) c.1928T>C (p.Leu643Pro) c.1136T>C (p.Leu379Pro) | |
8 | g.60838113T>G | CA371318126 | CHD7 | c.4391T>G (p.Leu1464Arg) c.1717-24116T>G (n.1717-24116T>G) c.2378T>G (p.Leu793Arg) c.1928T>G (p.Leu643Arg) c.1136T>G (p.Leu379Arg) | |
8 | g.60838114A= | CA1788116055 | CHD7 | c.4392A= (p.Leu1464=) c.1717-24115A= (n.1717-24115A=) c.2379A= (p.Leu793=) c.1929A= (p.Leu643=) c.1137A= (p.Leu379=) | |
8 | g.60838114A>C | CA460847180 | CHD7 | c.4392A>C (p.Leu1464=) c.1717-24115A>C (n.1717-24115A>C) c.2379A>C (p.Leu793=) c.1929A>C (p.Leu643=) c.1137A>C (p.Leu379=) | |
8 | g.60838114A>G | CA460847181 | CHD7 | c.4392A>G (p.Leu1464=) c.1717-24115A>G (n.1717-24115A>G) c.2379A>G (p.Leu793=) c.1929A>G (p.Leu643=) c.1137A>G (p.Leu379=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60838114A>T | CA460847182 | CHD7 | c.4392A>T (p.Leu1464=) c.1717-24115A>T (n.1717-24115A>T) c.2379A>T (p.Leu793=) c.1929A>T (p.Leu643=) c.1137A>T (p.Leu379=) | |
8 | g.60838115del | CA2695209708 | CHD7 | c.4393del (p.Arg1465GlufsTer?) c.1717-24114del (n.1717-24114del) c.2380del (p.Arg794GlufsTer?) c.1930del (p.Arg644GlufsTer?) c.1138del (p.Arg380GlufsTer?) | |
8 | g.60838115C>A | CA460847183 | CHD7 | c.4393C>A (p.Arg1465=) c.1717-24114C>A (n.1717-24114C>A) c.2380C>A (p.Arg794=) c.1930C>A (p.Arg644=) c.1138C>A (p.Arg380=) | |
8 | g.60838115C= | CA1788116062 | CHD7 | c.4393C= (p.Arg1465=) c.1717-24114C= (n.1717-24114C=) c.2380C= (p.Arg794=) c.1930C= (p.Arg644=) c.1138C= (p.Arg380=) | |
8 | g.60838115C>G | CA371318127 | CHD7 | c.4393C>G (p.Arg1465Gly) c.1717-24114C>G (n.1717-24114C>G) c.2380C>G (p.Arg794Gly) c.1930C>G (p.Arg644Gly) c.1138C>G (p.Arg380Gly) | |
8 | g.60838115C>T | CA10602497 | CHD7 | c.4393C>T (p.Arg1465Ter) c.1717-24114C>T (n.1717-24114C>T) c.2380C>T (p.Arg794Ter) c.1930C>T (p.Arg644Ter) c.1138C>T (p.Arg380Ter) | ClinVar dbSNP COSMIC |
8 | g.60838116G>A | CA177348658 | CHD7 | c.4394G>A (p.Arg1465Gln) c.1717-24113G>A (n.1717-24113G>A) c.2381G>A (p.Arg794Gln) c.1931G>A (p.Arg644Gln) c.1139G>A (p.Arg380Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60838116G>C | CA371318129 | CHD7 | c.4394G>C (p.Arg1465Pro) c.1717-24113G>C (n.1717-24113G>C) c.2381G>C (p.Arg794Pro) c.1931G>C (p.Arg644Pro) c.1139G>C (p.Arg380Pro) | |
8 | g.60838116G= | CA1788116071 | CHD7 | c.4394G= (p.Arg1465=) c.1717-24113G= (n.1717-24113G=) c.2381G= (p.Arg794=) c.1931G= (p.Arg644=) c.1139G= (p.Arg380=) | |
8 | g.60838116G>T | CA371318128 | CHD7 | c.4394G>T (p.Arg1465Leu) c.1717-24113G>T (n.1717-24113G>T) c.2381G>T (p.Arg794Leu) c.1931G>T (p.Arg644Leu) c.1139G>T (p.Arg380Leu) | |
8 | g.60838117A= | CA1788116081 | CHD7 | c.4395A= (p.Arg1465=) c.1717-24112A= (n.1717-24112A=) c.2382A= (p.Arg794=) c.1932A= (p.Arg644=) c.1140A= (p.Arg380=) | |
8 | g.60838117A>C | CA460847184 | CHD7 | c.4395A>C (p.Arg1465=) c.1717-24112A>C (n.1717-24112A>C) c.2382A>C (p.Arg794=) c.1932A>C (p.Arg644=) c.1140A>C (p.Arg380=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60838117A>G | CA460847185 | CHD7 | c.4395A>G (p.Arg1465=) c.1717-24112A>G (n.1717-24112A>G) c.2382A>G (p.Arg794=) c.1932A>G (p.Arg644=) c.1140A>G (p.Arg380=) | ClinVar |
8 | g.60838117A>T | CA460847186 | CHD7 | c.4395A>T (p.Arg1465=) c.1717-24112A>T (n.1717-24112A>T) c.2382A>T (p.Arg794=) c.1932A>T (p.Arg644=) c.1140A>T (p.Arg380=) | |
8 | g.60838118A>C | CA371318130 | CHD7 | c.4396A>C (p.Lys1466Gln) c.1717-24111A>C (n.1717-24111A>C) c.2383A>C (p.Lys795Gln) c.1933A>C (p.Lys645Gln) c.1141A>C (p.Lys381Gln) | |
8 | g.60838118A>G | CA371318132 | CHD7 | c.4396A>G (p.Lys1466Glu) c.1717-24111A>G (n.1717-24111A>G) c.2383A>G (p.Lys795Glu) c.1933A>G (p.Lys645Glu) c.1141A>G (p.Lys381Glu) | |
8 | g.60838118A>T | CA371318131 | CHD7 | c.4396A>T (p.Lys1466Ter) c.1717-24111A>T (n.1717-24111A>T) c.2383A>T (p.Lys795Ter) c.1933A>T (p.Lys645Ter) c.1141A>T (p.Lys381Ter) | |
8 | g.60838119A>C | CA371318133 | CHD7 | c.4397A>C (p.Lys1466Thr) c.1717-24110A>C (n.1717-24110A>C) c.2384A>C (p.Lys795Thr) c.1934A>C (p.Lys645Thr) c.1142A>C (p.Lys381Thr) | gnomAD v4 |
8 | g.60838119A>G | CA371318135 | CHD7 | c.4397A>G (p.Lys1466Arg) c.1717-24110A>G (n.1717-24110A>G) c.2384A>G (p.Lys795Arg) c.1934A>G (p.Lys645Arg) c.1142A>G (p.Lys381Arg) | gnomAD v4 |
8 | g.60838119A>T | CA371318134 | CHD7 | c.4397A>T (p.Lys1466Ile) c.1717-24110A>T (n.1717-24110A>T) c.2384A>T (p.Lys795Ile) c.1934A>T (p.Lys645Ile) c.1142A>T (p.Lys381Ile) | |
8 | g.60838120A>C | CA371318136 | CHD7 | c.4398A>C (p.Lys1466Asn) c.1717-24109A>C (n.1717-24109A>C) c.2385A>C (p.Lys795Asn) c.1935A>C (p.Lys645Asn) c.1143A>C (p.Lys381Asn) | |
8 | g.60838120A>G | CA460847187 | CHD7 | c.4398A>G (p.Lys1466=) c.1717-24109A>G (n.1717-24109A>G) c.2385A>G (p.Lys795=) c.1935A>G (p.Lys645=) c.1143A>G (p.Lys381=) | gnomAD v4 |
8 | g.60838120A>T | CA371318137 | CHD7 | c.4398A>T (p.Lys1466Asn) c.1717-24109A>T (n.1717-24109A>T) c.2385A>T (p.Lys795Asn) c.1935A>T (p.Lys645Asn) c.1143A>T (p.Lys381Asn) | |
8 | g.60838121G>A | CA371318138 | CHD7 | c.4399G>A (p.Gly1467Arg) c.1717-24108G>A (n.1717-24108G>A) c.2386G>A (p.Gly796Arg) c.1936G>A (p.Gly646Arg) c.1144G>A (p.Gly382Arg) | |
8 | g.60838121G>C | CA371318139 | CHD7 | c.4399G>C (p.Gly1467Arg) c.1717-24108G>C (n.1717-24108G>C) c.2386G>C (p.Gly796Arg) c.1936G>C (p.Gly646Arg) c.1144G>C (p.Gly382Arg) | |
8 | g.60838121G>T | CA371318140 | CHD7 | c.4399G>T (p.Gly1467Trp) c.1717-24108G>T (n.1717-24108G>T) c.2386G>T (p.Gly796Trp) c.1936G>T (p.Gly646Trp) c.1144G>T (p.Gly382Trp) | |
8 | g.60838124del | CA2695209709 | CHD7 | c.4402del (p.Ala1468ProfsTer?) c.1717-24105del (n.1717-24105del) c.2389del (p.Ala797ProfsTer?) c.1939del (p.Ala647ProfsTer?) c.1147del (p.Ala383ProfsTer?) | |
8 | g.60838122G>A | CA371318141 | CHD7 | c.4400G>A (p.Gly1467Glu) c.1717-24107G>A (n.1717-24107G>A) c.2387G>A (p.Gly796Glu) c.1937G>A (p.Gly646Glu) c.1145G>A (p.Gly382Glu) | |
8 | g.60838122G>C | CA371318142 | CHD7 | c.4400G>C (p.Gly1467Ala) c.1717-24107G>C (n.1717-24107G>C) c.2387G>C (p.Gly796Ala) c.1937G>C (p.Gly646Ala) c.1145G>C (p.Gly382Ala) | |
8 | g.60838122G>T | CA371318143 | CHD7 | c.4400G>T (p.Gly1467Val) c.1717-24107G>T (n.1717-24107G>T) c.2387G>T (p.Gly796Val) c.1937G>T (p.Gly646Val) c.1145G>T (p.Gly382Val) | dbSNP |
8 | g.60838123G>A | CA460847188 | CHD7 | c.4401G>A (p.Gly1467=) c.1717-24106G>A (n.1717-24106G>A) c.2388G>A (p.Gly796=) c.1938G>A (p.Gly646=) c.1146G>A (p.Gly382=) | |
8 | g.60838123G>C | CA460847189 | CHD7 | c.4401G>C (p.Gly1467=) c.1717-24106G>C (n.1717-24106G>C) c.2388G>C (p.Gly796=) c.1938G>C (p.Gly646=) c.1146G>C (p.Gly382=) | |
8 | g.60838123G>T | CA460847190 | CHD7 | c.4401G>T (p.Gly1467=) c.1717-24106G>T (n.1717-24106G>T) c.2388G>T (p.Gly796=) c.1938G>T (p.Gly646=) c.1146G>T (p.Gly382=) | |
8 | g.60838124G>A | CA371318144 | CHD7 | c.4402G>A (p.Ala1468Thr) c.1717-24105G>A (n.1717-24105G>A) c.2389G>A (p.Ala797Thr) c.1939G>A (p.Ala647Thr) c.1147G>A (p.Ala383Thr) | |
8 | g.60838124G>C | CA371318145 | CHD7 | c.4402G>C (p.Ala1468Pro) c.1717-24105G>C (n.1717-24105G>C) c.2389G>C (p.Ala797Pro) c.1939G>C (p.Ala647Pro) c.1147G>C (p.Ala383Pro) | |
8 | g.60838124G>T | CA371318146 | CHD7 | c.4402G>T (p.Ala1468Ser) c.1717-24105G>T (n.1717-24105G>T) c.2389G>T (p.Ala797Ser) c.1939G>T (p.Ala647Ser) c.1147G>T (p.Ala383Ser) | |
8 | g.60838125C>A | CA371318149 | CHD7 | c.4403C>A (p.Ala1468Asp) c.1717-24104C>A (n.1717-24104C>A) c.2390C>A (p.Ala797Asp) c.1940C>A (p.Ala647Asp) c.1148C>A (p.Ala383Asp) | |
8 | g.60838125C>G | CA371318148 | CHD7 | c.4403C>G (p.Ala1468Gly) c.1717-24104C>G (n.1717-24104C>G) c.2390C>G (p.Ala797Gly) c.1940C>G (p.Ala647Gly) c.1148C>G (p.Ala383Gly) | |
8 | g.60838125C>T | CA371318147 | CHD7 | c.4403C>T (p.Ala1468Val) c.1717-24104C>T (n.1717-24104C>T) c.2390C>T (p.Ala797Val) c.1940C>T (p.Ala647Val) c.1148C>T (p.Ala383Val) | gnomAD v4 |
8 | g.60838126C>A | CA460847191 | CHD7 | c.4404C>A (p.Ala1468=) c.1717-24103C>A (n.1717-24103C>A) c.2391C>A (p.Ala797=) c.1941C>A (p.Ala647=) c.1149C>A (p.Ala383=) | gnomAD v4 |
8 | g.60838126C= | CA1788116088 | CHD7 | c.4404C= (p.Ala1468=) c.1717-24103C= (n.1717-24103C=) c.2391C= (p.Ala797=) c.1941C= (p.Ala647=) c.1149C= (p.Ala383=) | |
8 | g.60838126C>G | CA460847192 | CHD7 | c.4404C>G (p.Ala1468=) c.1717-24103C>G (n.1717-24103C>G) c.2391C>G (p.Ala797=) c.1941C>G (p.Ala647=) c.1149C>G (p.Ala383=) | |
8 | g.60838126C>T | CA460847193 | CHD7 | c.4404C>T (p.Ala1468=) c.1717-24103C>T (n.1717-24103C>T) c.2391C>T (p.Ala797=) c.1941C>T (p.Ala647=) c.1149C>T (p.Ala383=) | ClinVar dbSNP gnomAD v2 COSMIC |
8 | g.60838127T>A | CA371318150 | CHD7 | c.4405T>A (p.Tyr1469Asn) c.1717-24102T>A (n.1717-24102T>A) c.2392T>A (p.Tyr798Asn) c.1942T>A (p.Tyr648Asn) c.1150T>A (p.Tyr384Asn) | |
8 | g.60838127T>C | CA371318151 | CHD7 | c.4405T>C (p.Tyr1469His) c.1717-24102T>C (n.1717-24102T>C) c.2392T>C (p.Tyr798His) c.1942T>C (p.Tyr648His) c.1150T>C (p.Tyr384His) | |
8 | g.60838127T>G | CA371318152 | CHD7 | c.4405T>G (p.Tyr1469Asp) c.1717-24102T>G (n.1717-24102T>G) c.2392T>G (p.Tyr798Asp) c.1942T>G (p.Tyr648Asp) c.1150T>G (p.Tyr384Asp) | |
8 | g.60838128A>C | CA371318153 | CHD7 | c.4406A>C (p.Tyr1469Ser) c.1717-24101A>C (n.1717-24101A>C) c.2393A>C (p.Tyr798Ser) c.1943A>C (p.Tyr648Ser) c.1151A>C (p.Tyr384Ser) | |
8 | g.60838128A>G | CA371318154 | CHD7 | c.4406A>G (p.Tyr1469Cys) c.1717-24101A>G (n.1717-24101A>G) c.2393A>G (p.Tyr798Cys) c.1943A>G (p.Tyr648Cys) c.1151A>G (p.Tyr384Cys) | ClinVar dbSNP gnomAD v4 |
8 | g.60838128A>T | CA371318155 | CHD7 | c.4406A>T (p.Tyr1469Phe) c.1717-24101A>T (n.1717-24101A>T) c.2393A>T (p.Tyr798Phe) c.1943A>T (p.Tyr648Phe) c.1151A>T (p.Tyr384Phe) | |
8 | g.60838132_60838142del | CA2695209710 | CHD7 | c.4410_4420del (p.Ala1471Ter) c.1717-24097_1717-24087del (n.1717-24097_1717-24087del) c.2397_2407del (p.Ala800Ter) c.1947_1957del (p.Ala650Ter) c.1155_1165del (p.Ala386Ter) | |
8 | g.60838129T>A | CA371318156 | CHD7 | c.4407T>A (p.Tyr1469Ter) c.1717-24100T>A (n.1717-24100T>A) c.2394T>A (p.Tyr798Ter) c.1944T>A (p.Tyr648Ter) c.1152T>A (p.Tyr384Ter) | |
8 | g.60838129T>C | CA460847194 | CHD7 | c.4407T>C (p.Tyr1469=) c.1717-24100T>C (n.1717-24100T>C) c.2394T>C (p.Tyr798=) c.1944T>C (p.Tyr648=) c.1152T>C (p.Tyr384=) | |
8 | g.60838129T>G | CA16618669 | CHD7 | c.4407T>G (p.Tyr1469Ter) c.1717-24100T>G (n.1717-24100T>G) c.2394T>G (p.Tyr798Ter) c.1944T>G (p.Tyr648Ter) c.1152T>G (p.Tyr384Ter) | ClinVar dbSNP |
8 | g.60838129T= | CA1788116094 | CHD7 | c.4407T= (p.Tyr1469=) c.1717-24100T= (n.1717-24100T=) c.2394T= (p.Tyr798=) c.1944T= (p.Tyr648=) c.1152T= (p.Tyr384=) | |
8 | g.60838130G>A | CA177348662 | CHD7 | c.4408G>A (p.Gly1470Ser) c.1717-24099G>A (n.1717-24099G>A) c.2395G>A (p.Gly799Ser) c.1945G>A (p.Gly649Ser) c.1153G>A (p.Gly385Ser) | dbSNP |
8 | g.60838130G>C | CA371318157 | CHD7 | c.4408G>C (p.Gly1470Arg) c.1717-24099G>C (n.1717-24099G>C) c.2395G>C (p.Gly799Arg) c.1945G>C (p.Gly649Arg) c.1153G>C (p.Gly385Arg) | |
8 | g.60838130G= | CA1788116097 | CHD7 | c.4408G= (p.Gly1470=) c.1717-24099G= (n.1717-24099G=) c.2395G= (p.Gly799=) c.1945G= (p.Gly649=) c.1153G= (p.Gly385=) | |
8 | g.60838130G>T | CA371318158 | CHD7 | c.4408G>T (p.Gly1470Cys) c.1717-24099G>T (n.1717-24099G>T) c.2395G>T (p.Gly799Cys) c.1945G>T (p.Gly649Cys) c.1153G>T (p.Gly385Cys) | |
8 | g.60838131G>A | CA371318160 | CHD7 | c.4409G>A (p.Gly1470Asp) c.1717-24098G>A (n.1717-24098G>A) c.2396G>A (p.Gly799Asp) c.1946G>A (p.Gly649Asp) c.1154G>A (p.Gly385Asp) | ClinVar |
8 | g.60838131G>C | CA371318161 | CHD7 | c.4409G>C (p.Gly1470Ala) c.1717-24098G>C (n.1717-24098G>C) c.2396G>C (p.Gly799Ala) c.1946G>C (p.Gly649Ala) c.1154G>C (p.Gly385Ala) | |
8 | g.60838131G>T | CA371318159 | CHD7 | c.4409G>T (p.Gly1470Val) c.1717-24098G>T (n.1717-24098G>T) c.2396G>T (p.Gly799Val) c.1946G>T (p.Gly649Val) c.1154G>T (p.Gly385Val) | |
8 | g.60838132T>A | CA460847196 | CHD7 | c.4410T>A (p.Gly1470=) c.1717-24097T>A (n.1717-24097T>A) c.2397T>A (p.Gly799=) c.1947T>A (p.Gly649=) c.1155T>A (p.Gly385=) | |
8 | g.60838132T>C | CA460847197 | CHD7 | c.4410T>C (p.Gly1470=) c.1717-24097T>C (n.1717-24097T>C) c.2397T>C (p.Gly799=) c.1947T>C (p.Gly649=) c.1155T>C (p.Gly385=) | dbSNP gnomAD v4 |
8 | g.60838132T>G | CA460847195 | CHD7 | c.4410T>G (p.Gly1470=) c.1717-24097T>G (n.1717-24097T>G) c.2397T>G (p.Gly799=) c.1947T>G (p.Gly649=) c.1155T>G (p.Gly385=) | |
8 | g.60838133G>A | CA371318162 | CHD7 | c.4411G>A (p.Ala1471Thr) c.1717-24096G>A (n.1717-24096G>A) c.2398G>A (p.Ala800Thr) c.1948G>A (p.Ala650Thr) c.1156G>A (p.Ala386Thr) | |
8 | g.60838133G>C | CA371318163 | CHD7 | c.4411G>C (p.Ala1471Pro) c.1717-24096G>C (n.1717-24096G>C) c.2398G>C (p.Ala800Pro) c.1948G>C (p.Ala650Pro) c.1156G>C (p.Ala386Pro) | |
8 | g.60838133G>T | CA371318164 | CHD7 | c.4411G>T (p.Ala1471Ser) c.1717-24096G>T (n.1717-24096G>T) c.2398G>T (p.Ala800Ser) c.1948G>T (p.Ala650Ser) c.1156G>T (p.Ala386Ser) | |
8 | g.60838134C>A | CA371318165 | CHD7 | c.4412C>A (p.Ala1471Glu) c.1717-24095C>A (n.1717-24095C>A) c.2399C>A (p.Ala800Glu) c.1949C>A (p.Ala650Glu) c.1157C>A (p.Ala386Glu) | |
8 | g.60838134C>G | CA371318166 | CHD7 | c.4412C>G (p.Ala1471Gly) c.1717-24095C>G (n.1717-24095C>G) c.2399C>G (p.Ala800Gly) c.1949C>G (p.Ala650Gly) c.1157C>G (p.Ala386Gly) | |
8 | g.60838134C>T | CA371318167 | CHD7 | c.4412C>T (p.Ala1471Val) c.1717-24095C>T (n.1717-24095C>T) c.2399C>T (p.Ala800Val) c.1949C>T (p.Ala650Val) c.1157C>T (p.Ala386Val) | |
8 | g.60838135A= | CA1788116111 | CHD7 | c.4413A= (p.Ala1471=) c.1717-24094A= (n.1717-24094A=) c.2400A= (p.Ala800=) c.1950A= (p.Ala650=) c.1158A= (p.Ala386=) | |
8 | g.60838135A>C | CA460847198 | CHD7 | c.4413A>C (p.Ala1471=) c.1717-24094A>C (n.1717-24094A>C) c.2400A>C (p.Ala800=) c.1950A>C (p.Ala650=) c.1158A>C (p.Ala386=) | |
8 | g.60838135A>G | CA4760125 | CHD7 | c.4413A>G (p.Ala1471=) c.1717-24094A>G (n.1717-24094A>G) c.2400A>G (p.Ala800=) c.1950A>G (p.Ala650=) c.1158A>G (p.Ala386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60838135A>T | CA460847199 | CHD7 | c.4413A>T (p.Ala1471=) c.1717-24094A>T (n.1717-24094A>T) c.2400A>T (p.Ala800=) c.1950A>T (p.Ala650=) c.1158A>T (p.Ala386=) | |
8 | g.60838136C>A | CA371318168 | CHD7 | c.4414C>A (p.Leu1472Ile) c.1717-24093C>A (n.1717-24093C>A) c.2401C>A (p.Leu801Ile) c.1951C>A (p.Leu651Ile) c.1159C>A (p.Leu387Ile) | |
8 | g.60838136C>G | CA371318169 | CHD7 | c.4414C>G (p.Leu1472Val) c.1717-24093C>G (n.1717-24093C>G) c.2401C>G (p.Leu801Val) c.1951C>G (p.Leu651Val) c.1159C>G (p.Leu387Val) | |
8 | g.60838136C>T | CA371318170 | CHD7 | c.4414C>T (p.Leu1472Phe) c.1717-24093C>T (n.1717-24093C>T) c.2401C>T (p.Leu801Phe) c.1951C>T (p.Leu651Phe) c.1159C>T (p.Leu387Phe) | |
8 | g.60838137T>A | CA371318173 | CHD7 | c.4415T>A (p.Leu1472His) c.1717-24092T>A (n.1717-24092T>A) c.2402T>A (p.Leu801His) c.1952T>A (p.Leu651His) c.1160T>A (p.Leu387His) | |
8 | g.60838137T>C | CA371318172 | CHD7 | c.4415T>C (p.Leu1472Pro) c.1717-24092T>C (n.1717-24092T>C) c.2402T>C (p.Leu801Pro) c.1952T>C (p.Leu651Pro) c.1160T>C (p.Leu387Pro) | |
8 | g.60838137T>G | CA371318171 | CHD7 | c.4415T>G (p.Leu1472Arg) c.1717-24092T>G (n.1717-24092T>G) c.2402T>G (p.Leu801Arg) c.1952T>G (p.Leu651Arg) c.1160T>G (p.Leu387Arg) | |
8 | g.60838138C>A | CA4760126 | CHD7 | c.4416C>A (p.Leu1472=) c.1717-24091C>A (n.1717-24091C>A) c.2403C>A (p.Leu801=) c.1953C>A (p.Leu651=) c.1161C>A (p.Leu387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60838138C= | CA1788116118 | CHD7 | c.4416C= (p.Leu1472=) c.1717-24091C= (n.1717-24091C=) c.2403C= (p.Leu801=) c.1953C= (p.Leu651=) c.1161C= (p.Leu387=) | |
8 | g.60838138C>G | CA460847200 | CHD7 | c.4416C>G (p.Leu1472=) c.1717-24091C>G (n.1717-24091C>G) c.2403C>G (p.Leu801=) c.1953C>G (p.Leu651=) c.1161C>G (p.Leu387=) | |
8 | g.60838138C>T | CA460847201 | CHD7 | c.4416C>T (p.Leu1472=) c.1717-24091C>T (n.1717-24091C>T) c.2403C>T (p.Leu801=) c.1953C>T (p.Leu651=) c.1161C>T (p.Leu387=) | |
8 | g.60838139A>C | CA371318174 | CHD7 | c.4417A>C (p.Met1473Leu) c.1717-24090A>C (n.1717-24090A>C) c.2404A>C (p.Met802Leu) c.1954A>C (p.Met652Leu) c.1162A>C (p.Met388Leu) | |
8 | g.60838139A>G | CA371318175 | CHD7 | c.4417A>G (p.Met1473Val) c.1717-24090A>G (n.1717-24090A>G) c.2404A>G (p.Met802Val) c.1954A>G (p.Met652Val) c.1162A>G (p.Met388Val) | |
8 | g.60838139A>T | CA371318176 | CHD7 | c.4417A>T (p.Met1473Leu) c.1717-24090A>T (n.1717-24090A>T) c.2404A>T (p.Met802Leu) c.1954A>T (p.Met652Leu) c.1162A>T (p.Met388Leu) | |
8 | g.60838140T>A | CA371318177 | CHD7 | c.4418T>A (p.Met1473Lys) c.1717-24089T>A (n.1717-24089T>A) c.2405T>A (p.Met802Lys) c.1955T>A (p.Met652Lys) c.1163T>A (p.Met388Lys) | |
8 | g.60838140T>C | CA371318178 | CHD7 | c.4418T>C (p.Met1473Thr) c.1717-24089T>C (n.1717-24089T>C) c.2405T>C (p.Met802Thr) c.1955T>C (p.Met652Thr) c.1163T>C (p.Met388Thr) | gnomAD v4 |
8 | g.60838140T>G | CA371318179 | CHD7 | c.4418T>G (p.Met1473Arg) c.1717-24089T>G (n.1717-24089T>G) c.2405T>G (p.Met802Arg) c.1955T>G (p.Met652Arg) c.1163T>G (p.Met388Arg) | |
8 | g.60838141G>A | CA371318180 | CHD7 | c.4419G>A (p.Met1473Ile) c.1717-24088G>A (n.1717-24088G>A) c.2406G>A (p.Met802Ile) c.1956G>A (p.Met652Ile) c.1164G>A (p.Met388Ile) | |
8 | g.60838141G>C | CA371318181 | CHD7 | c.4419G>C (p.Met1473Ile) c.1717-24088G>C (n.1717-24088G>C) c.2406G>C (p.Met802Ile) c.1956G>C (p.Met652Ile) c.1164G>C (p.Met388Ile) | |
8 | g.60838141G>T | CA371318182 | CHD7 | c.4419G>T (p.Met1473Ile) c.1717-24088G>T (n.1717-24088G>T) c.2406G>T (p.Met802Ile) c.1956G>T (p.Met652Ile) c.1164G>T (p.Met388Ile) | |
8 | g.60838142G>A | CA371318183 | CHD7 | c.4420G>A (p.Asp1474Asn) c.1717-24087G>A (n.1717-24087G>A) c.2407G>A (p.Asp803Asn) c.1957G>A (p.Asp653Asn) c.1165G>A (p.Asp389Asn) | ClinVar gnomAD v4 |
8 | g.60838142G>C | CA371318184 | CHD7 | c.4420G>C (p.Asp1474His) c.1717-24087G>C (n.1717-24087G>C) c.2407G>C (p.Asp803His) c.1957G>C (p.Asp653His) c.1165G>C (p.Asp389His) | |
8 | g.60838142G>T | CA371318185 | CHD7 | c.4420G>T (p.Asp1474Tyr) c.1717-24087G>T (n.1717-24087G>T) c.2407G>T (p.Asp803Tyr) c.1957G>T (p.Asp653Tyr) c.1165G>T (p.Asp389Tyr) | |
8 | g.60838143A= | CA1788116120 | CHD7 | c.4421A= (p.Asp1474=) c.1717-24086A= (n.1717-24086A=) c.2408A= (p.Asp803=) c.1958A= (p.Asp653=) c.1166A= (p.Asp389=) | |
8 | g.60838143A>C | CA371318187 | CHD7 | c.4421A>C (p.Asp1474Ala) c.1717-24086A>C (n.1717-24086A>C) c.2408A>C (p.Asp803Ala) c.1958A>C (p.Asp653Ala) c.1166A>C (p.Asp389Ala) | gnomAD v4 |
8 | g.60838143A>G | CA371318188 | CHD7 | c.4421A>G (p.Asp1474Gly) c.1717-24086A>G (n.1717-24086A>G) c.2408A>G (p.Asp803Gly) c.1958A>G (p.Asp653Gly) c.1166A>G (p.Asp389Gly) | gnomAD v4 |
8 | g.60838143A>T | CA371318186 | CHD7 | c.4421A>T (p.Asp1474Val) c.1717-24086A>T (n.1717-24086A>T) c.2408A>T (p.Asp803Val) c.1958A>T (p.Asp653Val) c.1166A>T (p.Asp389Val) | dbSNP gnomAD v4 |
8 | g.60838144T>A | CA371318189 | CHD7 | c.4422T>A (p.Asp1474Glu) c.1717-24085T>A (n.1717-24085T>A) c.2409T>A (p.Asp803Glu) c.1959T>A (p.Asp653Glu) c.1167T>A (p.Asp389Glu) | |
8 | g.60838144T>C | CA460847202 | CHD7 | c.4422T>C (p.Asp1474=) c.1717-24085T>C (n.1717-24085T>C) c.2409T>C (p.Asp803=) c.1959T>C (p.Asp653=) c.1167T>C (p.Asp389=) | |
8 | g.60838144T>G | CA371318190 | CHD7 | c.4422T>G (p.Asp1474Glu) c.1717-24085T>G (n.1717-24085T>G) c.2409T>G (p.Asp803Glu) c.1959T>G (p.Asp653Glu) c.1167T>G (p.Asp389Glu) | |
8 | g.60838145G>A | CA371318191 | CHD7 | c.4423G>A (p.Glu1475Lys) c.1717-24084G>A (n.1717-24084G>A) c.2410G>A (p.Glu804Lys) c.1960G>A (p.Glu654Lys) c.1168G>A (p.Glu390Lys) | gnomAD v4 |
8 | g.60838145G>C | CA371318192 | CHD7 | c.4423G>C (p.Glu1475Gln) c.1717-24084G>C (n.1717-24084G>C) c.2410G>C (p.Glu804Gln) c.1960G>C (p.Glu654Gln) c.1168G>C (p.Glu390Gln) | |
8 | g.60838145G= | CA1788116127 | CHD7 | c.4423G= (p.Glu1475=) c.1717-24084G= (n.1717-24084G=) c.2410G= (p.Glu804=) c.1960G= (p.Glu654=) c.1168G= (p.Glu390=) | |
8 | g.60838145G>T | CA177348671 | CHD7 | c.4423G>T (p.Glu1475Ter) c.1717-24084G>T (n.1717-24084G>T) c.2410G>T (p.Glu804Ter) c.1960G>T (p.Glu654Ter) c.1168G>T (p.Glu390Ter) | dbSNP gnomAD v4 |
8 | g.60838145_60838146delinsGA | CA1788116123 | CHD7 | c.4423_4424delinsGA (p.Glu1475=) c.1717-24084_1717-24083delinsGA (n.1717-24084_1717-24083delinsGA) c.2410_2411delinsGA (p.Glu804=) c.1960_1961delinsGA (p.Glu654=) c.1168_1169delinsGA (p.Glu390=) | |
8 | g.60838146del | CA1139660558 | CHD7 | c.4424del (p.Glu1475GlyfsTer?) c.1717-24083del (n.1717-24083del) c.2411del (p.Glu804GlyfsTer?) c.1961del (p.Glu654GlyfsTer?) c.1169del (p.Glu390GlyfsTer?) | ClinVar dbSNP |
8 | g.60838146A>C | CA371318196 | CHD7 | c.4424A>C (p.Glu1475Ala) c.1717-24083A>C (n.1717-24083A>C) c.2411A>C (p.Glu804Ala) c.1961A>C (p.Glu654Ala) c.1169A>C (p.Glu390Ala) | |
8 | g.60838146A>G | CA371318194 | CHD7 | c.4424A>G (p.Glu1475Gly) c.1717-24083A>G (n.1717-24083A>G) c.2411A>G (p.Glu804Gly) c.1961A>G (p.Glu654Gly) c.1169A>G (p.Glu390Gly) | gnomAD v4 |
8 | g.60838146A>T | CA371318195 | CHD7 | c.4424A>T (p.Glu1475Val) c.1717-24083A>T (n.1717-24083A>T) c.2411A>T (p.Glu804Val) c.1961A>T (p.Glu654Val) c.1169A>T (p.Glu390Val) | |
8 | g.60838147G>A | CA460847203 | CHD7 | c.4425G>A (p.Glu1475=) c.1717-24082G>A (n.1717-24082G>A) c.2412G>A (p.Glu804=) c.1962G>A (p.Glu654=) c.1170G>A (p.Glu390=) | |
8 | g.60838147G>C | CA371318197 | CHD7 | c.4425G>C (p.Glu1475Asp) c.1717-24082G>C (n.1717-24082G>C) c.2412G>C (p.Glu804Asp) c.1962G>C (p.Glu654Asp) c.1170G>C (p.Glu390Asp) | |
8 | g.60838147G>T | CA371318198 | CHD7 | c.4425G>T (p.Glu1475Asp) c.1717-24082G>T (n.1717-24082G>T) c.2412G>T (p.Glu804Asp) c.1962G>T (p.Glu654Asp) c.1170G>T (p.Glu390Asp) | gnomAD v4 |
8 | g.60838148G>A | CA371318199 | CHD7 | c.4426G>A (p.Glu1476Lys) c.1717-24081G>A (n.1717-24081G>A) c.2413G>A (p.Glu805Lys) c.1963G>A (p.Glu655Lys) c.1171G>A (p.Glu391Lys) | gnomAD v4 |
8 | g.60838148G>C | CA371318200 | CHD7 | c.4426G>C (p.Glu1476Gln) c.1717-24081G>C (n.1717-24081G>C) c.2413G>C (p.Glu805Gln) c.1963G>C (p.Glu655Gln) c.1171G>C (p.Glu391Gln) | |
8 | g.60838148G>T | CA371318201 | CHD7 | c.4426G>T (p.Glu1476Ter) c.1717-24081G>T (n.1717-24081G>T) c.2413G>T (p.Glu805Ter) c.1963G>T (p.Glu655Ter) c.1171G>T (p.Glu391Ter) | |
8 | g.60838149A>C | CA371318204 | CHD7 | c.4427A>C (p.Glu1476Ala) c.1717-24080A>C (n.1717-24080A>C) c.2414A>C (p.Glu805Ala) c.1964A>C (p.Glu655Ala) c.1172A>C (p.Glu391Ala) | |
8 | g.60838149A>G | CA371318202 | CHD7 | c.4427A>G (p.Glu1476Gly) c.1717-24080A>G (n.1717-24080A>G) c.2414A>G (p.Glu805Gly) c.1964A>G (p.Glu655Gly) c.1172A>G (p.Glu391Gly) | |
8 | g.60838149A>T | CA371318203 | CHD7 | c.4427A>T (p.Glu1476Val) c.1717-24080A>T (n.1717-24080A>T) c.2414A>T (p.Glu805Val) c.1964A>T (p.Glu655Val) c.1172A>T (p.Glu391Val) | |
8 | g.60838150G>A | CA460847204 | CHD7 | c.4428G>A (p.Glu1476=) c.1717-24079G>A (n.1717-24079G>A) c.2415G>A (p.Glu805=) c.1965G>A (p.Glu655=) c.1173G>A (p.Glu391=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60838150G>C | CA371318205 | CHD7 | c.4428G>C (p.Glu1476Asp) c.1717-24079G>C (n.1717-24079G>C) c.2415G>C (p.Glu805Asp) c.1965G>C (p.Glu655Asp) c.1173G>C (p.Glu391Asp) | |
8 | g.60838150G= | CA1788116133 | CHD7 | c.4428G= (p.Glu1476=) c.1717-24079G= (n.1717-24079G=) c.2415G= (p.Glu805=) c.1965G= (p.Glu655=) c.1173G= (p.Glu391=) | |
8 | g.60838150G>T | CA371318206 | CHD7 | c.4428G>T (p.Glu1476Asp) c.1717-24079G>T (n.1717-24079G>T) c.2415G>T (p.Glu805Asp) c.1965G>T (p.Glu655Asp) c.1173G>T (p.Glu391Asp) | gnomAD v4 |
8 | g.60838151G>A | CA371318207 | CHD7 | c.4429G>A (p.Asp1477Asn) c.1717-24078G>A (n.1717-24078G>A) c.2416G>A (p.Asp806Asn) c.1966G>A (p.Asp656Asn) c.1174G>A (p.Asp392Asn) | gnomAD v4 |
8 | g.60838151G>C | CA371318208 | CHD7 | c.4429G>C (p.Asp1477His) c.1717-24078G>C (n.1717-24078G>C) c.2416G>C (p.Asp806His) c.1966G>C (p.Asp656His) c.1174G>C (p.Asp392His) | |
8 | g.60838151G>T | CA371318209 | CHD7 | c.4429G>T (p.Asp1477Tyr) c.1717-24078G>T (n.1717-24078G>T) c.2416G>T (p.Asp806Tyr) c.1966G>T (p.Asp656Tyr) c.1174G>T (p.Asp392Tyr) | gnomAD v4 |
8 | g.60838152A>C | CA371318210 | CHD7 | c.4430A>C (p.Asp1477Ala) c.1717-24077A>C (n.1717-24077A>C) c.2417A>C (p.Asp806Ala) c.1967A>C (p.Asp656Ala) c.1175A>C (p.Asp392Ala) | |
8 | g.60838152A>G | CA371318211 | CHD7 | c.4430A>G (p.Asp1477Gly) c.1717-24077A>G (n.1717-24077A>G) c.2417A>G (p.Asp806Gly) c.1967A>G (p.Asp656Gly) c.1175A>G (p.Asp392Gly) | gnomAD v4 |
8 | g.60838152A>T | CA371318212 | CHD7 | c.4430A>T (p.Asp1477Val) c.1717-24077A>T (n.1717-24077A>T) c.2417A>T (p.Asp806Val) c.1967A>T (p.Asp656Val) c.1175A>T (p.Asp392Val) | |
8 | g.60838153T>A | CA371318213 | CHD7 | c.4431T>A (p.Asp1477Glu) c.1717-24076T>A (n.1717-24076T>A) c.2418T>A (p.Asp806Glu) c.1968T>A (p.Asp656Glu) c.1176T>A (p.Asp392Glu) | |
8 | g.60838153T>C | CA460847205 | CHD7 | c.4431T>C (p.Asp1477=) c.1717-24076T>C (n.1717-24076T>C) c.2418T>C (p.Asp806=) c.1968T>C (p.Asp656=) c.1176T>C (p.Asp392=) | gnomAD v4 |
8 | g.60838153T>G | CA371318214 | CHD7 | c.4431T>G (p.Asp1477Glu) c.1717-24076T>G (n.1717-24076T>G) c.2418T>G (p.Asp806Glu) c.1968T>G (p.Asp656Glu) c.1176T>G (p.Asp392Glu) | |
8 | g.60838154G>A | CA371318215 | CHD7 | c.4432G>A (p.Glu1478Lys) c.1717-24075G>A (n.1717-24075G>A) c.2419G>A (p.Glu807Lys) c.1969G>A (p.Glu657Lys) c.1177G>A (p.Glu393Lys) | COSMIC |
8 | g.60838154G>C | CA371318216 | CHD7 | c.4432G>C (p.Glu1478Gln) c.1717-24075G>C (n.1717-24075G>C) c.2419G>C (p.Glu807Gln) c.1969G>C (p.Glu657Gln) c.1177G>C (p.Glu393Gln) | |
8 | g.60838154G>T | CA371318217 | CHD7 | c.4432G>T (p.Glu1478Ter) c.1717-24075G>T (n.1717-24075G>T) c.2419G>T (p.Glu807Ter) c.1969G>T (p.Glu657Ter) c.1177G>T (p.Glu393Ter) | gnomAD v4 |
8 | g.60838155A>C | CA371318218 | CHD7 | c.4433A>C (p.Glu1478Ala) c.1717-24074A>C (n.1717-24074A>C) c.2420A>C (p.Glu807Ala) c.1970A>C (p.Glu657Ala) c.1178A>C (p.Glu393Ala) | |
8 | g.60838155A>G | CA371318220 | CHD7 | c.4433A>G (p.Glu1478Gly) c.1717-24074A>G (n.1717-24074A>G) c.2420A>G (p.Glu807Gly) c.1970A>G (p.Glu657Gly) c.1178A>G (p.Glu393Gly) | |
8 | g.60838155A>T | CA371318219 | CHD7 | c.4433A>T (p.Glu1478Val) c.1717-24074A>T (n.1717-24074A>T) c.2420A>T (p.Glu807Val) c.1970A>T (p.Glu657Val) c.1178A>T (p.Glu393Val) | |
8 | g.60838156A>C | CA371318221 | CHD7 | c.4434A>C (p.Glu1478Asp) c.1717-24073A>C (n.1717-24073A>C) c.2421A>C (p.Glu807Asp) c.1971A>C (p.Glu657Asp) c.1179A>C (p.Glu393Asp) | |
8 | g.60838156A>G | CA460847206 | CHD7 | c.4434A>G (p.Glu1478=) c.1717-24073A>G (n.1717-24073A>G) c.2421A>G (p.Glu807=) c.1971A>G (p.Glu657=) c.1179A>G (p.Glu393=) | |
8 | g.60838156A>T | CA371318222 | CHD7 | c.4434A>T (p.Glu1478Asp) c.1717-24073A>T (n.1717-24073A>T) c.2421A>T (p.Glu807Asp) c.1971A>T (p.Glu657Asp) c.1179A>T (p.Glu393Asp) | |
8 | g.60838156_60838157insCCC | CA2687399296 | CHD7 | c.4434_4435insCCC (p.Glu1478_Gly1479insPro) c.1717-24073_1717-24072insCCC (n.1717-24073_1717-24072insCCC) c.2421_2422insCCC (p.Glu807_Gly808insPro) c.1971_1972insCCC (p.Glu657_Gly658insPro) c.1179_1180insCCC (p.Glu393_Gly394insPro) | gnomAD v4 |
8 | g.60838157G>A | CA371318223 | CHD7 | c.4435G>A (p.Gly1479Arg) c.1717-24072G>A (n.1717-24072G>A) c.2422G>A (p.Gly808Arg) c.1972G>A (p.Gly658Arg) c.1180G>A (p.Gly394Arg) | gnomAD v4 |
8 | g.60838157G>C | CA371318224 | CHD7 | c.4435G>C (p.Gly1479Arg) c.1717-24072G>C (n.1717-24072G>C) c.2422G>C (p.Gly808Arg) c.1972G>C (p.Gly658Arg) c.1180G>C (p.Gly394Arg) | gnomAD v4 |
8 | g.60838157G>T | CA371318225 | CHD7 | c.4435G>T (p.Gly1479Trp) c.1717-24072G>T (n.1717-24072G>T) c.2422G>T (p.Gly808Trp) c.1972G>T (p.Gly658Trp) c.1180G>T (p.Gly394Trp) | gnomAD v4 |
8 | g.60838157_60838160del | CA2687399297 | CHD7 | c.4435_4438del (p.Gly1479LeufsTer?) c.1717-24072_1717-24069del (n.1717-24072_1717-24069del) c.2422_2425del (p.Gly808LeufsTer?) c.1972_1975del (p.Gly658LeufsTer?) c.1180_1183del (p.Gly394LeufsTer?) | gnomAD v4 |
8 | g.60838157_60838158insCC | CA2687399298 | CHD7 | c.4435_4436insCC (p.Gly1479AlafsTer?) c.1717-24072_1717-24071insCC (n.1717-24072_1717-24071insCC) c.2422_2423insCC (p.Gly808AlafsTer?) c.1972_1973insCC (p.Gly658AlafsTer?) c.1180_1181insCC (p.Gly394AlafsTer?) | gnomAD v4 |
8 | g.60838158G>A | CA371318226 | CHD7 | c.4436G>A (p.Gly1479Glu) c.1717-24071G>A (n.1717-24071G>A) c.2423G>A (p.Gly808Glu) c.1973G>A (p.Gly658Glu) c.1181G>A (p.Gly394Glu) | |
8 | g.60838158G>C | CA371318227 | CHD7 | c.4436G>C (p.Gly1479Ala) c.1717-24071G>C (n.1717-24071G>C) c.2423G>C (p.Gly808Ala) c.1973G>C (p.Gly658Ala) c.1181G>C (p.Gly394Ala) | gnomAD v4 |
8 | g.60838158G>T | CA371318228 | CHD7 | c.4436G>T (p.Gly1479Val) c.1717-24071G>T (n.1717-24071G>T) c.2423G>T (p.Gly808Val) c.1973G>T (p.Gly658Val) c.1181G>T (p.Gly394Val) | gnomAD v4 |
8 | g.60838158_60838160del | CA2687399299 | CHD7 | c.4436_4438del (p.Gly1479_Ser1480delinsAla) c.1717-24071_1717-24069del (n.1717-24071_1717-24069del) c.2423_2425del (p.Gly808_Ser809delinsAla) c.1973_1975del (p.Gly658_Ser659delinsAla) c.1181_1183del (p.Gly394_Ser395delinsAla) | gnomAD v4 |
8 | g.60838159G>A | CA223300 | CHD7 | c.4437G>A (p.Gly1479=) c.1717-24070G>A (n.1717-24070G>A) c.2424G>A (p.Gly808=) c.1974G>A (p.Gly658=) c.1182G>A (p.Gly394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60838159G>C | CA460847207 | CHD7 | c.4437G>C (p.Gly1479=) c.1717-24070G>C (n.1717-24070G>C) c.2424G>C (p.Gly808=) c.1974G>C (p.Gly658=) c.1182G>C (p.Gly394=) | gnomAD v4 |
8 | g.60838159G= | CA1788116142 | CHD7 | c.4437G= (p.Gly1479=) c.1717-24070G= (n.1717-24070G=) c.2424G= (p.Gly808=) c.1974G= (p.Gly658=) c.1182G= (p.Gly394=) | |
8 | g.60838159G>T | CA460847208 | CHD7 | c.4437G>T (p.Gly1479=) c.1717-24070G>T (n.1717-24070G>T) c.2424G>T (p.Gly808=) c.1974G>T (p.Gly658=) c.1182G>T (p.Gly394=) | gnomAD v4 COSMIC |
8 | g.60838159_60838160del | CA2687399300 | CHD7 | c.4437_4438del (p.Ser1480Ter) c.1717-24070_1717-24069del (n.1717-24070_1717-24069del) c.2424_2425del (p.Ser809Ter) c.1974_1975del (p.Ser659Ter) c.1182_1183del (p.Ser395Ter) | gnomAD v4 |
8 | g.60838160T>A | CA371318229 | CHD7 | c.4438T>A (p.Ser1480Thr) c.1717-24069T>A (n.1717-24069T>A) c.2425T>A (p.Ser809Thr) c.1975T>A (p.Ser659Thr) c.1183T>A (p.Ser395Thr) | gnomAD v4 |
8 | g.60838160T>C | CA371318230 | CHD7 | c.4438T>C (p.Ser1480Pro) c.1717-24069T>C (n.1717-24069T>C) c.2425T>C (p.Ser809Pro) c.1975T>C (p.Ser659Pro) c.1183T>C (p.Ser395Pro) | gnomAD v4 |
8 | g.60838160T>G | CA371318231 | CHD7 | c.4438T>G (p.Ser1480Ala) c.1717-24069T>G (n.1717-24069T>G) c.2425T>G (p.Ser809Ala) c.1975T>G (p.Ser659Ala) c.1183T>G (p.Ser395Ala) | |
8 | g.60838161C>A | CA371318234 | CHD7 | c.4439C>A (p.Ser1480Tyr) c.1717-24068C>A (n.1717-24068C>A) c.2426C>A (p.Ser809Tyr) c.1976C>A (p.Ser659Tyr) c.1184C>A (p.Ser395Tyr) | gnomAD v4 |
8 | g.60838161C>G | CA371318232 | CHD7 | c.4439C>G (p.Ser1480Cys) c.1717-24068C>G (n.1717-24068C>G) c.2426C>G (p.Ser809Cys) c.1976C>G (p.Ser659Cys) c.1184C>G (p.Ser395Cys) | |
8 | g.60838161C>T | CA371318233 | CHD7 | c.4439C>T (p.Ser1480Phe) c.1717-24068C>T (n.1717-24068C>T) c.2426C>T (p.Ser809Phe) c.1976C>T (p.Ser659Phe) c.1184C>T (p.Ser395Phe) | |
8 | g.60838161_60838162insCCCC | CA2831540369 | CHD7 | c.4439_4440insCCCC (p.Lys1481ProfsTer2) c.1717-24068_1717-24067insCCCC (n.1717-24068_1717-24067insCCCC) c.2426_2427insCCCC (p.Lys810ProfsTer2) c.1976_1977insCCCC (p.Lys660ProfsTer2) c.1184_1185insCCCC (p.Lys396ProfsTer2) | |
8 | g.60838162T>A | CA460847209 | CHD7 | c.4440T>A (p.Ser1480=) c.1717-24067T>A (n.1717-24067T>A) c.2427T>A (p.Ser809=) c.1977T>A (p.Ser659=) c.1185T>A (p.Ser395=) | |
8 | g.60838162T>C | CA460847210 | CHD7 | c.4440T>C (p.Ser1480=) c.1717-24067T>C (n.1717-24067T>C) c.2427T>C (p.Ser809=) c.1977T>C (p.Ser659=) c.1185T>C (p.Ser395=) | gnomAD v4 |
8 | g.60838162T>G | CA460847211 | CHD7 | c.4440T>G (p.Ser1480=) c.1717-24067T>G (n.1717-24067T>G) c.2427T>G (p.Ser809=) c.1977T>G (p.Ser659=) c.1185T>G (p.Ser395=) | |
8 | g.60838163A>C | CA371318235 | CHD7 | c.4441A>C (p.Lys1481Gln) c.1717-24066A>C (n.1717-24066A>C) c.2428A>C (p.Lys810Gln) c.1978A>C (p.Lys660Gln) c.1186A>C (p.Lys396Gln) | |
8 | g.60838163A>G | CA371318236 | CHD7 | c.4441A>G (p.Lys1481Glu) c.1717-24066A>G (n.1717-24066A>G) c.2428A>G (p.Lys810Glu) c.1978A>G (p.Lys660Glu) c.1186A>G (p.Lys396Glu) | gnomAD v4 |
8 | g.60838163A>T | CA371318237 | CHD7 | c.4441A>T (p.Lys1481Ter) c.1717-24066A>T (n.1717-24066A>T) c.2428A>T (p.Lys810Ter) c.1978A>T (p.Lys660Ter) c.1186A>T (p.Lys396Ter) | |
8 | g.60838165del | CA2687399301 | CHD7 | c.4443del (p.Lys1481AsnfsTer?) c.1717-24064del (n.1717-24064del) c.2430del (p.Lys810AsnfsTer?) c.1980del (p.Lys660AsnfsTer?) c.1188del (p.Lys396AsnfsTer?) | gnomAD v4 |
8 | g.60838164A>C | CA371318238 | CHD7 | c.4442A>C (p.Lys1481Thr) c.1717-24065A>C (n.1717-24065A>C) c.2429A>C (p.Lys810Thr) c.1979A>C (p.Lys660Thr) c.1187A>C (p.Lys396Thr) | |
8 | g.60838164A>G | CA371318239 | CHD7 | c.4442A>G (p.Lys1481Arg) c.1717-24065A>G (n.1717-24065A>G) c.2429A>G (p.Lys810Arg) c.1979A>G (p.Lys660Arg) c.1187A>G (p.Lys396Arg) | |
8 | g.60838164A>T | CA371318240 | CHD7 | c.4442A>T (p.Lys1481Ile) c.1717-24065A>T (n.1717-24065A>T) c.2429A>T (p.Lys810Ile) c.1979A>T (p.Lys660Ile) c.1187A>T (p.Lys396Ile) | |
8 | g.60838165A= | CA1788116149 | CHD7 | c.4443A= (p.Lys1481=) c.1717-24064A= (n.1717-24064A=) c.2430A= (p.Lys810=) c.1980A= (p.Lys660=) c.1188A= (p.Lys396=) | |
8 | g.60838165A>C | CA371318241 | CHD7 | c.4443A>C (p.Lys1481Asn) c.1717-24064A>C (n.1717-24064A>C) c.2430A>C (p.Lys810Asn) c.1980A>C (p.Lys660Asn) c.1188A>C (p.Lys396Asn) | |
8 | g.60838165A>G | CA177348672 | CHD7 | c.4443A>G (p.Lys1481=) c.1717-24064A>G (n.1717-24064A>G) c.2430A>G (p.Lys810=) c.1980A>G (p.Lys660=) c.1188A>G (p.Lys396=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60838165A>T | CA371318242 | CHD7 | c.4443A>T (p.Lys1481Asn) c.1717-24064A>T (n.1717-24064A>T) c.2430A>T (p.Lys810Asn) c.1980A>T (p.Lys660Asn) c.1188A>T (p.Lys396Asn) | |
8 | g.60838166T>A | CA371318243 | CHD7 | c.4444T>A (p.Phe1482Ile) c.1717-24063T>A (n.1717-24063T>A) c.2431T>A (p.Phe811Ile) c.1981T>A (p.Phe661Ile) c.1189T>A (p.Phe397Ile) | |
8 | g.60838166T>C | CA371318244 | CHD7 | c.4444T>C (p.Phe1482Leu) c.1717-24063T>C (n.1717-24063T>C) c.2431T>C (p.Phe811Leu) c.1981T>C (p.Phe661Leu) c.1189T>C (p.Phe397Leu) | gnomAD v4 |
8 | g.60838166T>G | CA371318245 | CHD7 | c.4444T>G (p.Phe1482Val) c.1717-24063T>G (n.1717-24063T>G) c.2431T>G (p.Phe811Val) c.1981T>G (p.Phe661Val) c.1189T>G (p.Phe397Val) | |
8 | g.60838167T>A | CA371318247 | CHD7 | c.4445T>A (p.Phe1482Tyr) c.1717-24062T>A (n.1717-24062T>A) c.2432T>A (p.Phe811Tyr) c.1982T>A (p.Phe661Tyr) c.1190T>A (p.Phe397Tyr) | |
8 | g.60838167T>C | CA371318248 | CHD7 | c.4445T>C (p.Phe1482Ser) c.1717-24062T>C (n.1717-24062T>C) c.2432T>C (p.Phe811Ser) c.1982T>C (p.Phe661Ser) c.1190T>C (p.Phe397Ser) | |
8 | g.60838167T>G | CA371318246 | CHD7 | c.4445T>G (p.Phe1482Cys) c.1717-24062T>G (n.1717-24062T>G) c.2432T>G (p.Phe811Cys) c.1982T>G (p.Phe661Cys) c.1190T>G (p.Phe397Cys) | |
8 | g.60838168C>A | CA371318250 | CHD7 | c.4446C>A (p.Phe1482Leu) c.1717-24061C>A (n.1717-24061C>A) c.2433C>A (p.Phe811Leu) c.1983C>A (p.Phe661Leu) c.1191C>A (p.Phe397Leu) | gnomAD v4 COSMIC |
8 | g.60838168C= | CA1788116155 | CHD7 | c.4446C= (p.Phe1482=) c.1717-24061C= (n.1717-24061C=) c.2433C= (p.Phe811=) c.1983C= (p.Phe661=) c.1191C= (p.Phe397=) | |
8 | g.60838168C>G | CA371318249 | CHD7 | c.4446C>G (p.Phe1482Leu) c.1717-24061C>G (n.1717-24061C>G) c.2433C>G (p.Phe811Leu) c.1983C>G (p.Phe661Leu) c.1191C>G (p.Phe397Leu) | |
8 | g.60838168C>T | CA460847212 | CHD7 | c.4446C>T (p.Phe1482=) c.1717-24061C>T (n.1717-24061C>T) c.2433C>T (p.Phe811=) c.1983C>T (p.Phe661=) c.1191C>T (p.Phe397=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60838169T>A | CA371318253 | CHD7 | c.4447T>A (p.Cys1483Ser) c.1717-24060T>A (n.1717-24060T>A) c.2434T>A (p.Cys812Ser) c.1984T>A (p.Cys662Ser) c.1192T>A (p.Cys398Ser) | |
8 | g.60838169T>C | CA371318251 | CHD7 | c.4447T>C (p.Cys1483Arg) c.1717-24060T>C (n.1717-24060T>C) c.2434T>C (p.Cys812Arg) c.1984T>C (p.Cys662Arg) c.1192T>C (p.Cys398Arg) | gnomAD v4 |
8 | g.60838169T>G | CA371318252 | CHD7 | c.4447T>G (p.Cys1483Gly) c.1717-24060T>G (n.1717-24060T>G) c.2434T>G (p.Cys812Gly) c.1984T>G (p.Cys662Gly) c.1192T>G (p.Cys398Gly) |