Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60838063T>ACA2687399291CHD7c.4354-13T>A (n.4354-13T>A)
c.1717-24166T>A (n.1717-24166T>A)
c.2341-13T>A (n.2341-13T>A)
c.1891-13T>A (n.1891-13T>A)
c.1099-13T>A (n.1099-13T>A)
 gnomAD v4
8g.60838064T>GCA4760120CHD7c.4354-12T>G (n.4354-12T>G)
c.1717-24165T>G (n.1717-24165T>G)
c.2341-12T>G (n.2341-12T>G)
c.1891-12T>G (n.1891-12T>G)
c.1099-12T>G (n.1099-12T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60838064T=CA1788116001CHD7c.4354-12T= (n.4354-12T=)
c.1717-24165T= (n.1717-24165T=)
c.2341-12T= (n.2341-12T=)
c.1891-12T= (n.1891-12T=)
c.1099-12T= (n.1099-12T=)
8g.60838065C>ACA2687399292CHD7c.4354-11C>A (n.4354-11C>A)
c.1717-24164C>A (n.1717-24164C>A)
c.2341-11C>A (n.2341-11C>A)
c.1891-11C>A (n.1891-11C>A)
c.1099-11C>A (n.1099-11C>A)
 gnomAD v4
8g.60838067C=CA1788116009CHD7c.4354-9C= (n.4354-9C=)
c.1717-24162C= (n.1717-24162C=)
c.2341-9C= (n.2341-9C=)
c.1891-9C= (n.1891-9C=)
c.1099-9C= (n.1099-9C=)
8g.60838067C>GCA2687399293CHD7c.4354-9C>G (n.4354-9C>G)
c.1717-24162C>G (n.1717-24162C>G)
c.2341-9C>G (n.2341-9C>G)
c.1891-9C>G (n.1891-9C>G)
c.1099-9C>G (n.1099-9C>G)
 gnomAD v4
8g.60838067C>TCA582403530CHD7c.4354-9C>T (n.4354-9C>T)
c.1717-24162C>T (n.1717-24162C>T)
c.2341-9C>T (n.2341-9C>T)
c.1891-9C>T (n.1891-9C>T)
c.1099-9C>T (n.1099-9C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.60838069A=CA1788116013CHD7c.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=)
8g.60838069A>GCA4760121CHD7c.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
8g.60838070A>GCA2580078479CHD7c.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
8g.60838072A>GCA2687399294CHD7c.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
8g.60838073C>ACA2579173601CHD7c.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
8g.60838073C>GCA2695209701CHD7c.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)
8g.60838073dupCA2687399295CHD7c.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
8g.60838074A>CCA371318032CHD7c.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)
8g.60838074A>GCA371318033CHD7c.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
8g.60838074A>TCA371318034CHD7c.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)
8g.60838075G>ACA371318036CHD7c.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
8g.60838075G>CCA371318037CHD7c.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)
8g.60838075G>TCA371318035CHD7c.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)
8g.60838076G>ACA177348649CHD7c.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
8g.60838076G>CCA371318038CHD7c.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)
8g.60838076G=CA1788116015CHD7c.4354G= (p.Val1452=)
c.1717-24153G= (n.1717-24153G=)
c.2341G= (p.Val781=)
c.1891G= (p.Val631=)
c.1099G= (p.Val367=)
8g.60838076G>TCA371318039CHD7c.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)
8g.60838077T>ACA371318040CHD7c.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)
8g.60838077T>CCA371318041CHD7c.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)
8g.60838077T>GCA371318042CHD7c.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)
8g.60838078A>CCA460847159CHD7c.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=)
8g.60838078A>GCA460847160CHD7c.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
8g.60838078A>TCA460847161CHD7c.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=)
8g.60838079_60838080dupCA2695209702CHD7c.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)
8g.60838079C>ACA371318043CHD7c.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)
8g.60838079C>GCA371318044CHD7c.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)
8g.60838079C>TCA371318045CHD7c.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)
8g.60838080A>CCA371318046CHD7c.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)
8g.60838080A>GCA371318047CHD7c.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)
8g.60838080A>TCA371318048CHD7c.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)
8g.60838081A=CA1788116020CHD7c.4359A= (p.Gln1453=)
c.1717-24148A= (n.1717-24148A=)
c.2346A= (p.Gln782=)
c.1896A= (p.Gln632=)
c.1104A= (p.Gln368=)
8g.60838081A>CCA371318050CHD7c.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)
8g.60838081A>GCA4760122CHD7c.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
8g.60838081A>TCA371318049CHD7c.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)
8g.60838082C>ACA371318051CHD7c.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
8g.60838082C>GCA371318052CHD7c.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)
8g.60838082C>TCA371318053CHD7c.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
8g.60838083A>CCA371318054CHD7c.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)
8g.60838083A>GCA371318055CHD7c.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)
8g.60838083A>TCA371318056CHD7c.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)
8g.60838083_60838084delCA2695209704CHD7c.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)
8g.60838084G>ACA460847162CHD7c.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=)
8g.60838084G>CCA371318057CHD7c.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)
8g.60838084G=CA1788116026CHD7c.4362G= (p.Gln1454=)
c.1717-24145G= (n.1717-24145G=)
c.2349G= (p.Gln783=)
c.1899G= (p.Gln633=)
c.1107G= (p.Gln369=)
8g.60838084G>TCA4760123CHD7c.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
8g.60838085C>ACA371318058CHD7c.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
8g.60838085C>GCA371318059CHD7c.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)
8g.60838085C>TCA371318060CHD7c.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)
8g.60838086T>ACA371318061CHD7c.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)
8g.60838086T>CCA371318062CHD7c.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)
8g.60838086T>GCA371318063CHD7c.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)
8g.60838087T>ACA460847163CHD7c.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=)
8g.60838087T>CCA460847164CHD7c.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
8g.60838087T>GCA460847165CHD7c.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=)
8g.60838088T>ACA371318065CHD7c.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)
8g.60838088T>CCA371318066CHD7c.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)
8g.60838088T>GCA371318064CHD7c.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)
8g.60838089C>ACA371318067CHD7c.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)
8g.60838089C>GCA371318068CHD7c.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)
8g.60838089C>TCA371318069CHD7c.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)
8g.60838090C>ACA460847167CHD7c.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=)
8g.60838090C>GCA460847168CHD7c.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=)
8g.60838090C>TCA460847166CHD7c.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
8g.60838091A>CCA371318070CHD7c.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)
8g.60838091A>GCA371318071CHD7c.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)
8g.60838091A>TCA371318072CHD7c.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)
8g.60838092A>CCA371318075CHD7c.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)
8g.60838092A>GCA371318073CHD7c.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
8g.60838092A>TCA371318074CHD7c.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)
8g.60838093G>ACA460847169CHD7c.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=)
8g.60838093G>CCA371318076CHD7c.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)
8g.60838093G>TCA371318077CHD7c.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)
8g.60838094A>CCA371318078CHD7c.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)
8g.60838094A>GCA371318079CHD7c.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)
8g.60838094A>TCA371318080CHD7c.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)
8g.60838095A>CCA371318083CHD7c.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)
8g.60838095A>GCA371318081CHD7c.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)
8g.60838095A>TCA371318082CHD7c.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)
8g.60838096A>CCA371318084CHD7c.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)
8g.60838096A>GCA460847170CHD7c.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
8g.60838096A>TCA371318085CHD7c.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)
8g.60838097G>ACA371318086CHD7c.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)
8g.60838097G>CCA371318087CHD7c.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
8g.60838097G=CA1788116030CHD7c.4375G= (p.Glu1459=)
c.1717-24132G= (n.1717-24132G=)
c.2362G= (p.Glu788=)
c.1912G= (p.Glu638=)
c.1120G= (p.Glu374=)
8g.60838097G>TCA371318088CHD7c.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
8g.60838098A>CCA371318089CHD7c.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)
8g.60838098A>GCA371318090CHD7c.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)
8g.60838098A>TCA371318091CHD7c.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)
8g.60838100delCA2573053036CHD7c.4378del (p.Ile1460Ter)
c.1717-24129del (n.1717-24129del)
c.2365del (p.Ile789Ter)
c.1915del (p.Ile639Ter)
c.1123del (p.Ile375Ter)
 dbSNP
8g.60838099A=CA1788116035CHD7c.4377A= (p.Glu1459=)
c.1717-24130A= (n.1717-24130A=)
c.2364A= (p.Glu788=)
c.1914A= (p.Glu638=)
c.1122A= (p.Glu374=)
8g.60838099A>CCA371318092CHD7c.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)
8g.60838099A>GCA460847171CHD7c.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
8g.60838099A>TCA371318093CHD7c.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)
8g.60838099_60838101delinsAATCA1788116033CHD7c.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=)
8g.60838100A>CCA371318094CHD7c.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)
8g.60838100A>GCA371318095CHD7c.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
8g.60838100A>TCA371318096CHD7c.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)
8g.60838101_60838102delCA223299CHD7c.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
8g.60838101T>ACA371318097CHD7c.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)
8g.60838101T>CCA371318098CHD7c.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)
8g.60838101T>GCA371318099CHD7c.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)
8g.60838102A=CA1788116044CHD7c.4380A= (p.Ile1460=)
c.1717-24127A= (n.1717-24127A=)
c.2367A= (p.Ile789=)
c.1917A= (p.Ile639=)
c.1125A= (p.Ile375=)
8g.60838102A>CCA460847173CHD7c.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=)
8g.60838102A>GCA371318100CHD7c.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)
8g.60838102A>TCA460847172CHD7c.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
8g.60838103G>ACA371318101CHD7c.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)
8g.60838103G>CCA371318102CHD7c.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
8g.60838103G=CA1788116049CHD7c.4381G= (p.Glu1461=)
c.1717-24126G= (n.1717-24126G=)
c.2368G= (p.Glu790=)
c.1918G= (p.Glu640=)
c.1126G= (p.Glu376=)
8g.60838103G>TCA371318103CHD7c.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
8g.60838104A>CCA371318104CHD7c.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)
8g.60838104A>GCA371318105CHD7c.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)
8g.60838104A>TCA371318106CHD7c.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)
8g.60838105G>ACA460847174CHD7c.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=)
8g.60838105G>CCA371318107CHD7c.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)
8g.60838105G>TCA371318108CHD7c.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)
8g.60838106G>ACA371318109CHD7c.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)
8g.60838106G>CCA371318110CHD7c.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)
8g.60838106G>TCA371318111CHD7c.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
8g.60838107A=CA1788116052CHD7c.4385A= (p.Asp1462=)
c.1717-24122A= (n.1717-24122A=)
c.2372A= (p.Asp791=)
c.1922A= (p.Asp641=)
c.1130A= (p.Asp377=)
8g.60838107A>CCA371318113CHD7c.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)
8g.60838107A>GCA4760124CHD7c.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
8g.60838107A>TCA371318112CHD7c.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
8g.60838108T>ACA371318114CHD7c.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)
8g.60838108T>CCA460847175CHD7c.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=)
8g.60838108T>GCA371318115CHD7c.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)
8g.60838109C>ACA371318116CHD7c.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
8g.60838109C>GCA371318117CHD7c.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)
8g.60838109C>TCA371318118CHD7c.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)
8g.60838110T>ACA371318119CHD7c.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)
8g.60838110T>CCA371318120CHD7c.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
8g.60838110T>GCA371318121CHD7c.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)
8g.60838111T>ACA460847178CHD7c.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=)
8g.60838111T>CCA460847177CHD7c.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=)
8g.60838111T>GCA460847176CHD7c.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=)
8g.60838112C>ACA371318122CHD7c.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)
8g.60838112C>GCA371318123CHD7c.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)
8g.60838112C>TCA460847179CHD7c.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=)
8g.60838113T>ACA371318124CHD7c.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)
8g.60838113T>CCA371318125CHD7c.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)
8g.60838113T>GCA371318126CHD7c.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)
8g.60838114A=CA1788116055CHD7c.4392A= (p.Leu1464=)
c.1717-24115A= (n.1717-24115A=)
c.2379A= (p.Leu793=)
c.1929A= (p.Leu643=)
c.1137A= (p.Leu379=)
8g.60838114A>CCA460847180CHD7c.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=)
8g.60838114A>GCA460847181CHD7c.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
8g.60838114A>TCA460847182CHD7c.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=)
8g.60838115delCA2695209708CHD7c.4393del (p.Arg1465GlufsTer?)
c.1717-24114del (n.1717-24114del)
c.2380del (p.Arg794GlufsTer?)
c.1930del (p.Arg644GlufsTer?)
c.1138del (p.Arg380GlufsTer?)
8g.60838115C>ACA460847183CHD7c.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=)
8g.60838115C=CA1788116062CHD7c.4393C= (p.Arg1465=)
c.1717-24114C= (n.1717-24114C=)
c.2380C= (p.Arg794=)
c.1930C= (p.Arg644=)
c.1138C= (p.Arg380=)
8g.60838115C>GCA371318127CHD7c.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)
8g.60838115C>TCA10602497CHD7c.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
8g.60838116G>ACA177348658CHD7c.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
8g.60838116G>CCA371318129CHD7c.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)
8g.60838116G=CA1788116071CHD7c.4394G= (p.Arg1465=)
c.1717-24113G= (n.1717-24113G=)
c.2381G= (p.Arg794=)
c.1931G= (p.Arg644=)
c.1139G= (p.Arg380=)
8g.60838116G>TCA371318128CHD7c.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)
8g.60838117A=CA1788116081CHD7c.4395A= (p.Arg1465=)
c.1717-24112A= (n.1717-24112A=)
c.2382A= (p.Arg794=)
c.1932A= (p.Arg644=)
c.1140A= (p.Arg380=)
8g.60838117A>CCA460847184CHD7c.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
8g.60838117A>GCA460847185CHD7c.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
8g.60838117A>TCA460847186CHD7c.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=)
8g.60838118A>CCA371318130CHD7c.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)
8g.60838118A>GCA371318132CHD7c.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)
8g.60838118A>TCA371318131CHD7c.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)
8g.60838119A>CCA371318133CHD7c.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
8g.60838119A>GCA371318135CHD7c.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
8g.60838119A>TCA371318134CHD7c.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)
8g.60838120A>CCA371318136CHD7c.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)
8g.60838120A>GCA460847187CHD7c.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
8g.60838120A>TCA371318137CHD7c.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)
8g.60838121G>ACA371318138CHD7c.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)
8g.60838121G>CCA371318139CHD7c.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)
8g.60838121G>TCA371318140CHD7c.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)
8g.60838124delCA2695209709CHD7c.4402del (p.Ala1468ProfsTer?)
c.1717-24105del (n.1717-24105del)
c.2389del (p.Ala797ProfsTer?)
c.1939del (p.Ala647ProfsTer?)
c.1147del (p.Ala383ProfsTer?)
8g.60838122G>ACA371318141CHD7c.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)
8g.60838122G>CCA371318142CHD7c.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)
8g.60838122G>TCA371318143CHD7c.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
8g.60838123G>ACA460847188CHD7c.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=)
8g.60838123G>CCA460847189CHD7c.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=)
8g.60838123G>TCA460847190CHD7c.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=)
8g.60838124G>ACA371318144CHD7c.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)
8g.60838124G>CCA371318145CHD7c.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)
8g.60838124G>TCA371318146CHD7c.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)
8g.60838125C>ACA371318149CHD7c.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)
8g.60838125C>GCA371318148CHD7c.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)
8g.60838125C>TCA371318147CHD7c.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
8g.60838126C>ACA460847191CHD7c.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
8g.60838126C=CA1788116088CHD7c.4404C= (p.Ala1468=)
c.1717-24103C= (n.1717-24103C=)
c.2391C= (p.Ala797=)
c.1941C= (p.Ala647=)
c.1149C= (p.Ala383=)
8g.60838126C>GCA460847192CHD7c.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=)
8g.60838126C>TCA460847193CHD7c.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
8g.60838127T>ACA371318150CHD7c.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)
8g.60838127T>CCA371318151CHD7c.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)
8g.60838127T>GCA371318152CHD7c.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)
8g.60838128A>CCA371318153CHD7c.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)
8g.60838128A>GCA371318154CHD7c.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
8g.60838128A>TCA371318155CHD7c.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)
8g.60838132_60838142delCA2695209710CHD7c.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)
8g.60838129T>ACA371318156CHD7c.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)
8g.60838129T>CCA460847194CHD7c.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=)
8g.60838129T>GCA16618669CHD7c.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
8g.60838129T=CA1788116094CHD7c.4407T= (p.Tyr1469=)
c.1717-24100T= (n.1717-24100T=)
c.2394T= (p.Tyr798=)
c.1944T= (p.Tyr648=)
c.1152T= (p.Tyr384=)
8g.60838130G>ACA177348662CHD7c.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
8g.60838130G>CCA371318157CHD7c.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)
8g.60838130G=CA1788116097CHD7c.4408G= (p.Gly1470=)
c.1717-24099G= (n.1717-24099G=)
c.2395G= (p.Gly799=)
c.1945G= (p.Gly649=)
c.1153G= (p.Gly385=)
8g.60838130G>TCA371318158CHD7c.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)
8g.60838131G>ACA371318160CHD7c.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
8g.60838131G>CCA371318161CHD7c.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)
8g.60838131G>TCA371318159CHD7c.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)
8g.60838132T>ACA460847196CHD7c.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=)
8g.60838132T>CCA460847197CHD7c.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
8g.60838132T>GCA460847195CHD7c.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=)
8g.60838133G>ACA371318162CHD7c.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)
8g.60838133G>CCA371318163CHD7c.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)
8g.60838133G>TCA371318164CHD7c.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)
8g.60838134C>ACA371318165CHD7c.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)
8g.60838134C>GCA371318166CHD7c.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)
8g.60838134C>TCA371318167CHD7c.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)
8g.60838135A=CA1788116111CHD7c.4413A= (p.Ala1471=)
c.1717-24094A= (n.1717-24094A=)
c.2400A= (p.Ala800=)
c.1950A= (p.Ala650=)
c.1158A= (p.Ala386=)
8g.60838135A>CCA460847198CHD7c.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=)
8g.60838135A>GCA4760125CHD7c.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
8g.60838135A>TCA460847199CHD7c.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=)
8g.60838136C>ACA371318168CHD7c.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)
8g.60838136C>GCA371318169CHD7c.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)
8g.60838136C>TCA371318170CHD7c.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)
8g.60838137T>ACA371318173CHD7c.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)
8g.60838137T>CCA371318172CHD7c.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)
8g.60838137T>GCA371318171CHD7c.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)
8g.60838138C>ACA4760126CHD7c.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
8g.60838138C=CA1788116118CHD7c.4416C= (p.Leu1472=)
c.1717-24091C= (n.1717-24091C=)
c.2403C= (p.Leu801=)
c.1953C= (p.Leu651=)
c.1161C= (p.Leu387=)
8g.60838138C>GCA460847200CHD7c.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=)
8g.60838138C>TCA460847201CHD7c.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=)
8g.60838139A>CCA371318174CHD7c.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)
8g.60838139A>GCA371318175CHD7c.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)
8g.60838139A>TCA371318176CHD7c.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)
8g.60838140T>ACA371318177CHD7c.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)
8g.60838140T>CCA371318178CHD7c.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
8g.60838140T>GCA371318179CHD7c.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)
8g.60838141G>ACA371318180CHD7c.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)
8g.60838141G>CCA371318181CHD7c.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)
8g.60838141G>TCA371318182CHD7c.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)
8g.60838142G>ACA371318183CHD7c.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
8g.60838142G>CCA371318184CHD7c.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)
8g.60838142G>TCA371318185CHD7c.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)
8g.60838143A=CA1788116120CHD7c.4421A= (p.Asp1474=)
c.1717-24086A= (n.1717-24086A=)
c.2408A= (p.Asp803=)
c.1958A= (p.Asp653=)
c.1166A= (p.Asp389=)
8g.60838143A>CCA371318187CHD7c.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
8g.60838143A>GCA371318188CHD7c.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
8g.60838143A>TCA371318186CHD7c.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
8g.60838144T>ACA371318189CHD7c.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)
8g.60838144T>CCA460847202CHD7c.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=)
8g.60838144T>GCA371318190CHD7c.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)
8g.60838145G>ACA371318191CHD7c.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
8g.60838145G>CCA371318192CHD7c.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)
8g.60838145G=CA1788116127CHD7c.4423G= (p.Glu1475=)
c.1717-24084G= (n.1717-24084G=)
c.2410G= (p.Glu804=)
c.1960G= (p.Glu654=)
c.1168G= (p.Glu390=)
8g.60838145G>TCA177348671CHD7c.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
8g.60838145_60838146delinsGACA1788116123CHD7c.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=)
8g.60838146delCA1139660558CHD7c.4424del (p.Glu1475GlyfsTer?)
c.1717-24083del (n.1717-24083del)
c.2411del (p.Glu804GlyfsTer?)
c.1961del (p.Glu654GlyfsTer?)
c.1169del (p.Glu390GlyfsTer?)
 ClinVar dbSNP
8g.60838146A>CCA371318196CHD7c.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)
8g.60838146A>GCA371318194CHD7c.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
8g.60838146A>TCA371318195CHD7c.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)
8g.60838147G>ACA460847203CHD7c.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=)
8g.60838147G>CCA371318197CHD7c.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)
8g.60838147G>TCA371318198CHD7c.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
8g.60838148G>ACA371318199CHD7c.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
8g.60838148G>CCA371318200CHD7c.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)
8g.60838148G>TCA371318201CHD7c.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)
8g.60838149A>CCA371318204CHD7c.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)
8g.60838149A>GCA371318202CHD7c.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)
8g.60838149A>TCA371318203CHD7c.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)
8g.60838150G>ACA460847204CHD7c.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
8g.60838150G>CCA371318205CHD7c.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)
8g.60838150G=CA1788116133CHD7c.4428G= (p.Glu1476=)
c.1717-24079G= (n.1717-24079G=)
c.2415G= (p.Glu805=)
c.1965G= (p.Glu655=)
c.1173G= (p.Glu391=)
8g.60838150G>TCA371318206CHD7c.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
8g.60838151G>ACA371318207CHD7c.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
8g.60838151G>CCA371318208CHD7c.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)
8g.60838151G>TCA371318209CHD7c.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
8g.60838152A>CCA371318210CHD7c.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)
8g.60838152A>GCA371318211CHD7c.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
8g.60838152A>TCA371318212CHD7c.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)
8g.60838153T>ACA371318213CHD7c.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)
8g.60838153T>CCA460847205CHD7c.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
8g.60838153T>GCA371318214CHD7c.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)
8g.60838154G>ACA371318215CHD7c.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
8g.60838154G>CCA371318216CHD7c.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)
8g.60838154G>TCA371318217CHD7c.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
8g.60838155A>CCA371318218CHD7c.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)
8g.60838155A>GCA371318220CHD7c.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)
8g.60838155A>TCA371318219CHD7c.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)
8g.60838156A>CCA371318221CHD7c.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)
8g.60838156A>GCA460847206CHD7c.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=)
8g.60838156A>TCA371318222CHD7c.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)
8g.60838156_60838157insCCCCA2687399296CHD7c.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
8g.60838157G>ACA371318223CHD7c.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
8g.60838157G>CCA371318224CHD7c.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
8g.60838157G>TCA371318225CHD7c.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
8g.60838157_60838160delCA2687399297CHD7c.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
8g.60838157_60838158insCCCA2687399298CHD7c.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
8g.60838158G>ACA371318226CHD7c.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)
8g.60838158G>CCA371318227CHD7c.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
8g.60838158G>TCA371318228CHD7c.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
8g.60838158_60838160delCA2687399299CHD7c.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
8g.60838159G>ACA223300CHD7c.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
8g.60838159G>CCA460847207CHD7c.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
8g.60838159G=CA1788116142CHD7c.4437G= (p.Gly1479=)
c.1717-24070G= (n.1717-24070G=)
c.2424G= (p.Gly808=)
c.1974G= (p.Gly658=)
c.1182G= (p.Gly394=)
8g.60838159G>TCA460847208CHD7c.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
8g.60838159_60838160delCA2687399300CHD7c.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
8g.60838160T>ACA371318229CHD7c.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
8g.60838160T>CCA371318230CHD7c.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
8g.60838160T>GCA371318231CHD7c.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)
8g.60838161C>ACA371318234CHD7c.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
8g.60838161C>GCA371318232CHD7c.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)
8g.60838161C>TCA371318233CHD7c.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)
8g.60838162T>ACA460847209CHD7c.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=)
8g.60838162T>CCA460847210CHD7c.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
8g.60838162T>GCA460847211CHD7c.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=)
8g.60838163A>CCA371318235CHD7c.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)
8g.60838163A>GCA371318236CHD7c.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
8g.60838163A>TCA371318237CHD7c.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)
8g.60838165delCA2687399301CHD7c.4443del (p.Lys1481AsnfsTer?)
c.1717-24064del (n.1717-24064del)
c.2430del (p.Lys810AsnfsTer?)
c.1980del (p.Lys660AsnfsTer?)
c.1188del (p.Lys396AsnfsTer?)
 gnomAD v4

Number of alleles fetched