Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60852849A>CCA371324259CHD7c.6124A>C (p.Ile2042Leu)
c.1717-9380A>C (n.1717-9380A>C)
c.6214A>C (p.Ile2072Leu)
c.4201A>C (p.Ile1401Leu)
c.3751A>C (p.Ile1251Leu)
c.2959A>C (p.Ile987Leu)
8g.60852849A>GCA371324261CHD7c.6124A>G (p.Ile2042Val)
c.1717-9380A>G (n.1717-9380A>G)
c.6214A>G (p.Ile2072Val)
c.4201A>G (p.Ile1401Val)
c.3751A>G (p.Ile1251Val)
c.2959A>G (p.Ile987Val)
8g.60852849A>TCA371324262CHD7c.6124A>T (p.Ile2042Leu)
c.1717-9380A>T (n.1717-9380A>T)
c.6214A>T (p.Ile2072Leu)
c.4201A>T (p.Ile1401Leu)
c.3751A>T (p.Ile1251Leu)
c.2959A>T (p.Ile987Leu)
8g.60852850T>ACA371324264CHD7c.6125T>A (p.Ile2042Lys)
c.1717-9379T>A (n.1717-9379T>A)
c.6215T>A (p.Ile2072Lys)
c.4202T>A (p.Ile1401Lys)
c.3752T>A (p.Ile1251Lys)
c.2960T>A (p.Ile987Lys)
8g.60852850T>CCA371324265CHD7c.6125T>C (p.Ile2042Thr)
c.1717-9379T>C (n.1717-9379T>C)
c.6215T>C (p.Ile2072Thr)
c.4202T>C (p.Ile1401Thr)
c.3752T>C (p.Ile1251Thr)
c.2960T>C (p.Ile987Thr)
8g.60852850T>GCA371324267CHD7c.6125T>G (p.Ile2042Arg)
c.1717-9379T>G (n.1717-9379T>G)
c.6215T>G (p.Ile2072Arg)
c.4202T>G (p.Ile1401Arg)
c.3752T>G (p.Ile1251Arg)
c.2960T>G (p.Ile987Arg)
8g.60852851A>CCA461104904CHD7c.6126A>C (p.Ile2042=)
c.1717-9378A>C (n.1717-9378A>C)
c.6216A>C (p.Ile2072=)
c.4203A>C (p.Ile1401=)
c.3753A>C (p.Ile1251=)
c.2961A>C (p.Ile987=)
8g.60852851A>GCA371324268CHD7c.6126A>G (p.Ile2042Met)
c.1717-9378A>G (n.1717-9378A>G)
c.6216A>G (p.Ile2072Met)
c.4203A>G (p.Ile1401Met)
c.3753A>G (p.Ile1251Met)
c.2961A>G (p.Ile987Met)
8g.60852851A>TCA461104905CHD7c.6126A>T (p.Ile2042=)
c.1717-9378A>T (n.1717-9378A>T)
c.6216A>T (p.Ile2072=)
c.4203A>T (p.Ile1401=)
c.3753A>T (p.Ile1251=)
c.2961A>T (p.Ile987=)
8g.60852852A>CCA371324273CHD7c.6127A>C (p.Ile2043Leu)
c.1717-9377A>C (n.1717-9377A>C)
c.6217A>C (p.Ile2073Leu)
c.4204A>C (p.Ile1402Leu)
c.3754A>C (p.Ile1252Leu)
c.2962A>C (p.Ile988Leu)
8g.60852852A>GCA371324272CHD7c.6127A>G (p.Ile2043Val)
c.1717-9377A>G (n.1717-9377A>G)
c.6217A>G (p.Ile2073Val)
c.4204A>G (p.Ile1402Val)
c.3754A>G (p.Ile1252Val)
c.2962A>G (p.Ile988Val)
 gnomAD v4
8g.60852852A>TCA371324270CHD7c.6127A>T (p.Ile2043Phe)
c.1717-9377A>T (n.1717-9377A>T)
c.6217A>T (p.Ile2073Phe)
c.4204A>T (p.Ile1402Phe)
c.3754A>T (p.Ile1252Phe)
c.2962A>T (p.Ile988Phe)
8g.60852853T>ACA371324275CHD7c.6128T>A (p.Ile2043Asn)
c.1717-9376T>A (n.1717-9376T>A)
c.6218T>A (p.Ile2073Asn)
c.4205T>A (p.Ile1402Asn)
c.3755T>A (p.Ile1252Asn)
c.2963T>A (p.Ile988Asn)
8g.60852853T>CCA371324276CHD7c.6128T>C (p.Ile2043Thr)
c.1717-9376T>C (n.1717-9376T>C)
c.6218T>C (p.Ile2073Thr)
c.4205T>C (p.Ile1402Thr)
c.3755T>C (p.Ile1252Thr)
c.2963T>C (p.Ile988Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.60852853T>GCA371324277CHD7c.6128T>G (p.Ile2043Ser)
c.1717-9376T>G (n.1717-9376T>G)
c.6218T>G (p.Ile2073Ser)
c.4205T>G (p.Ile1402Ser)
c.3755T>G (p.Ile1252Ser)
c.2963T>G (p.Ile988Ser)
8g.60852853T=CA1788102443CHD7c.6128T= (p.Ile2043=)
c.1717-9376T= (n.1717-9376T=)
c.6218T= (p.Ile2073=)
c.4205T= (p.Ile1402=)
c.3755T= (p.Ile1252=)
c.2963T= (p.Ile988=)
8g.60852854T>ACA461104908CHD7c.6129T>A (p.Ile2043=)
c.1717-9375T>A (n.1717-9375T>A)
c.6219T>A (p.Ile2073=)
c.4206T>A (p.Ile1402=)
c.3756T>A (p.Ile1252=)
c.2964T>A (p.Ile988=)
8g.60852854T>CCA461104909CHD7c.6129T>C (p.Ile2043=)
c.1717-9375T>C (n.1717-9375T>C)
c.6219T>C (p.Ile2073=)
c.4206T>C (p.Ile1402=)
c.3756T>C (p.Ile1252=)
c.2964T>C (p.Ile988=)
 dbSNP
8g.60852854T>GCA371324279CHD7c.6129T>G (p.Ile2043Met)
c.1717-9375T>G (n.1717-9375T>G)
c.6219T>G (p.Ile2073Met)
c.4206T>G (p.Ile1402Met)
c.3756T>G (p.Ile1252Met)
c.2964T>G (p.Ile988Met)
8g.60852854T=CA1788102447CHD7c.6129T= (p.Ile2043=)
c.1717-9375T= (n.1717-9375T=)
c.6219T= (p.Ile2073=)
c.4206T= (p.Ile1402=)
c.3756T= (p.Ile1252=)
c.2964T= (p.Ile988=)
8g.60852855G>ACA371324280CHD7c.6130G>A (p.Glu2044Lys)
c.1717-9374G>A (n.1717-9374G>A)
c.6220G>A (p.Glu2074Lys)
c.4207G>A (p.Glu1403Lys)
c.3757G>A (p.Glu1253Lys)
c.2965G>A (p.Glu989Lys)
8g.60852855G>CCA371324282CHD7c.6130G>C (p.Glu2044Gln)
c.1717-9374G>C (n.1717-9374G>C)
c.6220G>C (p.Glu2074Gln)
c.4207G>C (p.Glu1403Gln)
c.3757G>C (p.Glu1253Gln)
c.2965G>C (p.Glu989Gln)
 dbSNP
8g.60852855G=CA1788102450CHD7c.6130G= (p.Glu2044=)
c.1717-9374G= (n.1717-9374G=)
c.6220G= (p.Glu2074=)
c.4207G= (p.Glu1403=)
c.3757G= (p.Glu1253=)
c.2965G= (p.Glu989=)
8g.60852855G>TCA371324283CHD7c.6130G>T (p.Glu2044Ter)
c.1717-9374G>T (n.1717-9374G>T)
c.6220G>T (p.Glu2074Ter)
c.4207G>T (p.Glu1403Ter)
c.3757G>T (p.Glu1253Ter)
c.2965G>T (p.Glu989Ter)
8g.60852860_60852878dupCA2695209407CHD7c.6135_6153dup (p.Ser2052AspfsTer14)
c.1717-9369_1717-9351dup (n.1717-9369_1717-9351dup)
c.6225_6243dup (p.Ser2082AspfsTer14)
c.4212_4230dup (p.Ser1411AspfsTer14)
c.3762_3780dup (p.Ser1261AspfsTer14)
c.2970_2988dup (p.Ser997AspfsTer14)
8g.60852856A>CCA371324285CHD7c.6131A>C (p.Glu2044Ala)
c.1717-9373A>C (n.1717-9373A>C)
c.6221A>C (p.Glu2074Ala)
c.4208A>C (p.Glu1403Ala)
c.3758A>C (p.Glu1253Ala)
c.2966A>C (p.Glu989Ala)
8g.60852856A>GCA371324286CHD7c.6131A>G (p.Glu2044Gly)
c.1717-9373A>G (n.1717-9373A>G)
c.6221A>G (p.Glu2074Gly)
c.4208A>G (p.Glu1403Gly)
c.3758A>G (p.Glu1253Gly)
c.2966A>G (p.Glu989Gly)
8g.60852856A>TCA371324287CHD7c.6131A>T (p.Glu2044Val)
c.1717-9373A>T (n.1717-9373A>T)
c.6221A>T (p.Glu2074Val)
c.4208A>T (p.Glu1403Val)
c.3758A>T (p.Glu1253Val)
c.2966A>T (p.Glu989Val)
8g.60852857G>ACA461104911CHD7c.6132G>A (p.Glu2044=)
c.1717-9372G>A (n.1717-9372G>A)
c.6222G>A (p.Glu2074=)
c.4209G>A (p.Glu1403=)
c.3759G>A (p.Glu1253=)
c.2967G>A (p.Glu989=)
8g.60852857G>CCA371324288CHD7c.6132G>C (p.Glu2044Asp)
c.1717-9372G>C (n.1717-9372G>C)
c.6222G>C (p.Glu2074Asp)
c.4209G>C (p.Glu1403Asp)
c.3759G>C (p.Glu1253Asp)
c.2967G>C (p.Glu989Asp)
8g.60852857G>TCA371324289CHD7c.6132G>T (p.Glu2044Asp)
c.1717-9372G>T (n.1717-9372G>T)
c.6222G>T (p.Glu2074Asp)
c.4209G>T (p.Glu1403Asp)
c.3759G>T (p.Glu1253Asp)
c.2967G>T (p.Glu989Asp)
8g.60852858C>ACA371324293CHD7c.6133C>A (p.Pro2045Thr)
c.1717-9371C>A (n.1717-9371C>A)
c.6223C>A (p.Pro2075Thr)
c.4210C>A (p.Pro1404Thr)
c.3760C>A (p.Pro1254Thr)
c.2968C>A (p.Pro990Thr)
8g.60852858C>GCA371324294CHD7c.6133C>G (p.Pro2045Ala)
c.1717-9371C>G (n.1717-9371C>G)
c.6223C>G (p.Pro2075Ala)
c.4210C>G (p.Pro1404Ala)
c.3760C>G (p.Pro1254Ala)
c.2968C>G (p.Pro990Ala)
8g.60852858C>TCA371324291CHD7c.6133C>T (p.Pro2045Ser)
c.1717-9371C>T (n.1717-9371C>T)
c.6223C>T (p.Pro2075Ser)
c.4210C>T (p.Pro1404Ser)
c.3760C>T (p.Pro1254Ser)
c.2968C>T (p.Pro990Ser)
8g.60852859C>ACA371324297CHD7c.6134C>A (p.Pro2045Gln)
c.1717-9370C>A (n.1717-9370C>A)
c.6224C>A (p.Pro2075Gln)
c.4211C>A (p.Pro1404Gln)
c.3761C>A (p.Pro1254Gln)
c.2969C>A (p.Pro990Gln)
 dbSNP
8g.60852859C=CA1788102454CHD7c.6134C= (p.Pro2045=)
c.1717-9370C= (n.1717-9370C=)
c.6224C= (p.Pro2075=)
c.4211C= (p.Pro1404=)
c.3761C= (p.Pro1254=)
c.2969C= (p.Pro990=)
8g.60852859C>GCA371324295CHD7c.6134C>G (p.Pro2045Arg)
c.1717-9370C>G (n.1717-9370C>G)
c.6224C>G (p.Pro2075Arg)
c.4211C>G (p.Pro1404Arg)
c.3761C>G (p.Pro1254Arg)
c.2969C>G (p.Pro990Arg)
8g.60852859C>TCA371324296CHD7c.6134C>T (p.Pro2045Leu)
c.1717-9370C>T (n.1717-9370C>T)
c.6224C>T (p.Pro2075Leu)
c.4211C>T (p.Pro1404Leu)
c.3761C>T (p.Pro1254Leu)
c.2969C>T (p.Pro990Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60852860G>ACA171756CHD7c.6135G>A (p.Pro2045=)
c.1717-9369G>A (n.1717-9369G>A)
c.6225G>A (p.Pro2075=)
c.4212G>A (p.Pro1404=)
c.3762G>A (p.Pro1254=)
c.2970G>A (p.Pro990=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60852860G>CCA4760540CHD7c.6135G>C (p.Pro2045=)
c.1717-9369G>C (n.1717-9369G>C)
c.6225G>C (p.Pro2075=)
c.4212G>C (p.Pro1404=)
c.3762G>C (p.Pro1254=)
c.2970G>C (p.Pro990=)
 dbSNP ExAC gnomAD v2
8g.60852860G=CA1788102470CHD7c.6135G= (p.Pro2045=)
c.1717-9369G= (n.1717-9369G=)
c.6225G= (p.Pro2075=)
c.4212G= (p.Pro1404=)
c.3762G= (p.Pro1254=)
c.2970G= (p.Pro990=)
8g.60852860G>TCA461104913CHD7c.6135G>T (p.Pro2045=)
c.1717-9369G>T (n.1717-9369G>T)
c.6225G>T (p.Pro2075=)
c.4212G>T (p.Pro1404=)
c.3762G>T (p.Pro1254=)
c.2970G>T (p.Pro990=)
 ClinVar dbSNP gnomAD v2
8g.60852861A>CCA371324298CHD7c.6136A>C (p.Ile2046Leu)
c.1717-9368A>C (n.1717-9368A>C)
c.6226A>C (p.Ile2076Leu)
c.4213A>C (p.Ile1405Leu)
c.3763A>C (p.Ile1255Leu)
c.2971A>C (p.Ile991Leu)
8g.60852861A>GCA371324299CHD7c.6136A>G (p.Ile2046Val)
c.1717-9368A>G (n.1717-9368A>G)
c.6226A>G (p.Ile2076Val)
c.4213A>G (p.Ile1405Val)
c.3763A>G (p.Ile1255Val)
c.2971A>G (p.Ile991Val)
8g.60852861A>TCA371324300CHD7c.6136A>T (p.Ile2046Phe)
c.1717-9368A>T (n.1717-9368A>T)
c.6226A>T (p.Ile2076Phe)
c.4213A>T (p.Ile1405Phe)
c.3763A>T (p.Ile1255Phe)
c.2971A>T (p.Ile991Phe)
8g.60852862T>ACA371324301CHD7c.6137T>A (p.Ile2046Asn)
c.1717-9367T>A (n.1717-9367T>A)
c.6227T>A (p.Ile2076Asn)
c.4214T>A (p.Ile1405Asn)
c.3764T>A (p.Ile1255Asn)
c.2972T>A (p.Ile991Asn)
8g.60852862T>CCA371324302CHD7c.6137T>C (p.Ile2046Thr)
c.1717-9367T>C (n.1717-9367T>C)
c.6227T>C (p.Ile2076Thr)
c.4214T>C (p.Ile1405Thr)
c.3764T>C (p.Ile1255Thr)
c.2972T>C (p.Ile991Thr)
8g.60852862T>GCA371324303CHD7c.6137T>G (p.Ile2046Ser)
c.1717-9367T>G (n.1717-9367T>G)
c.6227T>G (p.Ile2076Ser)
c.4214T>G (p.Ile1405Ser)
c.3764T>G (p.Ile1255Ser)
c.2972T>G (p.Ile991Ser)
8g.60852863C>ACA461104915CHD7c.6138C>A (p.Ile2046=)
c.1717-9366C>A (n.1717-9366C>A)
c.6228C>A (p.Ile2076=)
c.4215C>A (p.Ile1405=)
c.3765C>A (p.Ile1255=)
c.2973C>A (p.Ile991=)
8g.60852863C>GCA371324304CHD7c.6138C>G (p.Ile2046Met)
c.1717-9366C>G (n.1717-9366C>G)
c.6228C>G (p.Ile2076Met)
c.4215C>G (p.Ile1405Met)
c.3765C>G (p.Ile1255Met)
c.2973C>G (p.Ile991Met)

Number of alleles fetched