Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.80358670G>ACA385888646OTOGLc.6122-1G>A (n.6122-1G>A)
c.62-1G>A (n.62-1G>A)
c.5987-1G>A (n.5987-1G>A)
c.1423-1G>A
c.6095-1G>A (n.6095-1G>A)
n.378-1G>A
c.6059-1G>A (n.6059-1G>A)
c.146-1G>A (n.146-1G>A)
c.250-1G>A
c.6146-1G>A (n.6146-1G>A)
c.5993-1G>A (n.5993-1G>A)
c.5780-1G>A (n.5780-1G>A)
c.5960-1G>A (n.5960-1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.80358670G>CCA240239578OTOGLc.6122-1G>C (n.6122-1G>C)
c.62-1G>C (n.62-1G>C)
c.5987-1G>C (n.5987-1G>C)
c.1423-1G>C
c.6095-1G>C (n.6095-1G>C)
n.378-1G>C
c.6059-1G>C (n.6059-1G>C)
c.146-1G>C (n.146-1G>C)
c.250-1G>C
c.6146-1G>C (n.6146-1G>C)
c.5993-1G>C (n.5993-1G>C)
c.5780-1G>C (n.5780-1G>C)
c.5960-1G>C (n.5960-1G>C)
 dbSNP
12g.80358670G=CA2049208479OTOGLc.6122-1G= (n.6122-1G=)
c.62-1G= (n.62-1G=)
c.5987-1G= (n.5987-1G=)
c.1423-1G=
c.6095-1G= (n.6095-1G=)
n.378-1G=
c.6059-1G= (n.6059-1G=)
c.146-1G= (n.146-1G=)
c.250-1G=
c.6146-1G= (n.6146-1G=)
c.5993-1G= (n.5993-1G=)
c.5780-1G= (n.5780-1G=)
c.5960-1G= (n.5960-1G=)
12g.80358670G>TCA385888647OTOGLc.6122-1G>T (n.6122-1G>T)
c.62-1G>T (n.62-1G>T)
c.5987-1G>T (n.5987-1G>T)
c.1423-1G>T
c.6095-1G>T (n.6095-1G>T)
n.378-1G>T
c.6059-1G>T (n.6059-1G>T)
c.146-1G>T (n.146-1G>T)
c.250-1G>T
c.6146-1G>T (n.6146-1G>T)
c.5993-1G>T (n.5993-1G>T)
c.5780-1G>T (n.5780-1G>T)
c.5960-1G>T (n.5960-1G>T)
12g.80358671T>ACA385888648OTOGLc.6122T>A (p.Val2041Glu)
c.62T>A (p.Val21Glu)
c.5987T>A (p.Val1996Glu)
c.1423T>A
c.6095T>A (p.Val2032Glu)
n.378T>A
c.6059T>A (p.Val2020Glu)
c.146T>A (p.Val49Glu)
c.250T>A
c.6146T>A (p.Val2049Glu)
c.5993T>A (p.Val1998Glu)
c.5780T>A (p.Val1927Glu)
c.5960T>A (p.Val1987Glu)
12g.80358671T>CCA385888649OTOGLc.6122T>C (p.Val2041Ala)
c.62T>C (p.Val21Ala)
c.5987T>C (p.Val1996Ala)
c.1423T>C
c.6095T>C (p.Val2032Ala)
n.378T>C
c.6059T>C (p.Val2020Ala)
c.146T>C (p.Val49Ala)
c.250T>C
c.6146T>C (p.Val2049Ala)
c.5993T>C (p.Val1998Ala)
c.5780T>C (p.Val1927Ala)
c.5960T>C (p.Val1987Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.80358671T>GCA385888650OTOGLc.6122T>G (p.Val2041Gly)
c.62T>G (p.Val21Gly)
c.5987T>G (p.Val1996Gly)
c.1423T>G
c.6095T>G (p.Val2032Gly)
n.378T>G
c.6059T>G (p.Val2020Gly)
c.146T>G (p.Val49Gly)
c.250T>G
c.6146T>G (p.Val2049Gly)
c.5993T>G (p.Val1998Gly)
c.5780T>G (p.Val1927Gly)
c.5960T>G (p.Val1987Gly)
12g.80358671T=CA2049208480OTOGLc.6122T= (p.Val2041=)
c.62T= (p.Val21=)
c.5987T= (p.Val1996=)
c.1423T=
c.6095T= (p.Val2032=)
n.378T=
c.6059T= (p.Val2020=)
c.146T= (p.Val49=)
c.250T=
c.6146T= (p.Val2049=)
c.5993T= (p.Val1998=)
c.5780T= (p.Val1927=)
c.5960T= (p.Val1987=)
12g.80358672A=CA2049208481OTOGLc.6123A= (p.Val2041=)
c.63A= (p.Val21=)
c.5988A= (p.Val1996=)
c.1424A=
c.6096A= (p.Val2032=)
n.379A=
c.6060A= (p.Val2020=)
c.147A= (p.Val49=)
c.251A=
c.6147A= (p.Val2049=)
c.5994A= (p.Val1998=)
c.5781A= (p.Val1927=)
c.5961A= (p.Val1987=)
12g.80358672A>CCA480822999OTOGLc.6123A>C (p.Val2041=)
c.63A>C (p.Val21=)
c.5988A>C (p.Val1996=)
c.1424A>C
c.6096A>C (p.Val2032=)
n.379A>C
c.6060A>C (p.Val2020=)
c.147A>C (p.Val49=)
c.251A>C
c.6147A>C (p.Val2049=)
c.5994A>C (p.Val1998=)
c.5781A>C (p.Val1927=)
c.5961A>C (p.Val1987=)
12g.80358672A>GCA480823001OTOGLc.6123A>G (p.Val2041=)
c.63A>G (p.Val21=)
c.5988A>G (p.Val1996=)
c.1424A>G
c.6096A>G (p.Val2032=)
n.379A>G
c.6060A>G (p.Val2020=)
c.147A>G (p.Val49=)
c.251A>G
c.6147A>G (p.Val2049=)
c.5994A>G (p.Val1998=)
c.5781A>G (p.Val1927=)
c.5961A>G (p.Val1987=)
 dbSNP gnomAD v2 gnomAD v4
12g.80358672A>TCA480823004OTOGLc.6123A>T (p.Val2041=)
c.63A>T (p.Val21=)
c.5988A>T (p.Val1996=)
c.1424A>T
c.6096A>T (p.Val2032=)
n.379A>T
c.6060A>T (p.Val2020=)
c.147A>T (p.Val49=)
c.251A>T
c.6147A>T (p.Val2049=)
c.5994A>T (p.Val1998=)
c.5781A>T (p.Val1927=)
c.5961A>T (p.Val1987=)
12g.80358673T>ACA385888653OTOGLc.6124T>A (p.Cys2042Ser)
c.64T>A (p.Cys22Ser)
c.5989T>A (p.Cys1997Ser)
c.1425T>A
c.6097T>A (p.Cys2033Ser)
n.380T>A
c.6061T>A (p.Cys2021Ser)
c.148T>A (p.Cys50Ser)
c.252T>A
c.6148T>A (p.Cys2050Ser)
c.5995T>A (p.Cys1999Ser)
c.5782T>A (p.Cys1928Ser)
c.5962T>A (p.Cys1988Ser)
12g.80358673T>CCA385888651OTOGLc.6124T>C (p.Cys2042Arg)
c.64T>C (p.Cys22Arg)
c.5989T>C (p.Cys1997Arg)
c.1425T>C
c.6097T>C (p.Cys2033Arg)
n.380T>C
c.6061T>C (p.Cys2021Arg)
c.148T>C (p.Cys50Arg)
c.252T>C
c.6148T>C (p.Cys2050Arg)
c.5995T>C (p.Cys1999Arg)
c.5782T>C (p.Cys1928Arg)
c.5962T>C (p.Cys1988Arg)
12g.80358673T>GCA385888652OTOGLc.6124T>G (p.Cys2042Gly)
c.64T>G (p.Cys22Gly)
c.5989T>G (p.Cys1997Gly)
c.1425T>G
c.6097T>G (p.Cys2033Gly)
n.380T>G
c.6061T>G (p.Cys2021Gly)
c.148T>G (p.Cys50Gly)
c.252T>G
c.6148T>G (p.Cys2050Gly)
c.5995T>G (p.Cys1999Gly)
c.5782T>G (p.Cys1928Gly)
c.5962T>G (p.Cys1988Gly)
12g.80358674G>ACA385888654OTOGLc.6125G>A (p.Cys2042Tyr)
c.65G>A (p.Cys22Tyr)
c.5990G>A (p.Cys1997Tyr)
c.1426G>A
c.6098G>A (p.Cys2033Tyr)
n.381G>A
c.6062G>A (p.Cys2021Tyr)
c.149G>A (p.Cys50Tyr)
c.253G>A
c.6149G>A (p.Cys2050Tyr)
c.5996G>A (p.Cys1999Tyr)
c.5783G>A (p.Cys1928Tyr)
c.5963G>A (p.Cys1988Tyr)
 dbSNP gnomAD v3 gnomAD v4
12g.80358674G>CCA385888655OTOGLc.6125G>C (p.Cys2042Ser)
c.65G>C (p.Cys22Ser)
c.5990G>C (p.Cys1997Ser)
c.1426G>C
c.6098G>C (p.Cys2033Ser)
n.381G>C
c.6062G>C (p.Cys2021Ser)
c.149G>C (p.Cys50Ser)
c.253G>C
c.6149G>C (p.Cys2050Ser)
c.5996G>C (p.Cys1999Ser)
c.5783G>C (p.Cys1928Ser)
c.5963G>C (p.Cys1988Ser)
12g.80358674G=CA2049208482OTOGLc.6125G= (p.Cys2042=)
c.65G= (p.Cys22=)
c.5990G= (p.Cys1997=)
c.1426G=
c.6098G= (p.Cys2033=)
n.381G=
c.6062G= (p.Cys2021=)
c.149G= (p.Cys50=)
c.253G=
c.6149G= (p.Cys2050=)
c.5996G= (p.Cys1999=)
c.5783G= (p.Cys1928=)
c.5963G= (p.Cys1988=)
12g.80358674G>TCA385888656OTOGLc.6125G>T (p.Cys2042Phe)
c.65G>T (p.Cys22Phe)
c.5990G>T (p.Cys1997Phe)
c.1426G>T
c.6098G>T (p.Cys2033Phe)
n.381G>T
c.6062G>T (p.Cys2021Phe)
c.149G>T (p.Cys50Phe)
c.253G>T
c.6149G>T (p.Cys2050Phe)
c.5996G>T (p.Cys1999Phe)
c.5783G>T (p.Cys1928Phe)
c.5963G>T (p.Cys1988Phe)
12g.80358675T>ACA385888657OTOGLc.6126T>A (p.Cys2042Ter)
c.66T>A (p.Cys22Ter)
c.5991T>A (p.Cys1997Ter)
c.1427T>A
c.6099T>A (p.Cys2033Ter)
n.382T>A
c.6063T>A (p.Cys2021Ter)
c.150T>A (p.Cys50Ter)
c.254T>A
c.6150T>A (p.Cys2050Ter)
c.5997T>A (p.Cys1999Ter)
c.5784T>A (p.Cys1928Ter)
c.5964T>A (p.Cys1988Ter)
 gnomAD v3 gnomAD v4
12g.80358675T>CCA480823020OTOGLc.6126T>C (p.Cys2042=)
c.66T>C (p.Cys22=)
c.5991T>C (p.Cys1997=)
c.1427T>C
c.6099T>C (p.Cys2033=)
n.382T>C
c.6063T>C (p.Cys2021=)
c.150T>C (p.Cys50=)
c.254T>C
c.6150T>C (p.Cys2050=)
c.5997T>C (p.Cys1999=)
c.5784T>C (p.Cys1928=)
c.5964T>C (p.Cys1988=)
12g.80358675T>GCA385888658OTOGLc.6126T>G (p.Cys2042Trp)
c.66T>G (p.Cys22Trp)
c.5991T>G (p.Cys1997Trp)
c.1427T>G
c.6099T>G (p.Cys2033Trp)
n.382T>G
c.6063T>G (p.Cys2021Trp)
c.150T>G (p.Cys50Trp)
c.254T>G
c.6150T>G (p.Cys2050Trp)
c.5997T>G (p.Cys1999Trp)
c.5784T>G (p.Cys1928Trp)
c.5964T>G (p.Cys1988Trp)
 gnomAD v4
12g.80358676G>ACA385888659OTOGLc.6127G>A (p.Glu2043Lys)
c.67G>A (p.Glu23Lys)
c.5992G>A (p.Glu1998Lys)
c.1428G>A
c.6100G>A (p.Glu2034Lys)
n.383G>A
c.6064G>A (p.Glu2022Lys)
c.151G>A (p.Glu51Lys)
c.255G>A
c.6151G>A (p.Glu2051Lys)
c.5998G>A (p.Glu2000Lys)
c.5785G>A (p.Glu1929Lys)
c.5965G>A (p.Glu1989Lys)
12g.80358676G>CCA385888660OTOGLc.6127G>C (p.Glu2043Gln)
c.67G>C (p.Glu23Gln)
c.5992G>C (p.Glu1998Gln)
c.1428G>C
c.6100G>C (p.Glu2034Gln)
n.383G>C
c.6064G>C (p.Glu2022Gln)
c.151G>C (p.Glu51Gln)
c.255G>C
c.6151G>C (p.Glu2051Gln)
c.5998G>C (p.Glu2000Gln)
c.5785G>C (p.Glu1929Gln)
c.5965G>C (p.Glu1989Gln)
12g.80358676G>TCA385888661OTOGLc.6127G>T (p.Glu2043Ter)
c.67G>T (p.Glu23Ter)
c.5992G>T (p.Glu1998Ter)
c.1428G>T
c.6100G>T (p.Glu2034Ter)
n.383G>T
c.6064G>T (p.Glu2022Ter)
c.151G>T (p.Glu51Ter)
c.255G>T
c.6151G>T (p.Glu2051Ter)
c.5998G>T (p.Glu2000Ter)
c.5785G>T (p.Glu1929Ter)
c.5965G>T (p.Glu1989Ter)
12g.80358677A>CCA385888662OTOGLc.6128A>C (p.Glu2043Ala)
c.68A>C (p.Glu23Ala)
c.5993A>C (p.Glu1998Ala)
c.1429A>C
c.6101A>C (p.Glu2034Ala)
n.384A>C
c.6065A>C (p.Glu2022Ala)
c.152A>C (p.Glu51Ala)
c.256A>C
c.6152A>C (p.Glu2051Ala)
c.5999A>C (p.Glu2000Ala)
c.5786A>C (p.Glu1929Ala)
c.5966A>C (p.Glu1989Ala)
12g.80358677A>GCA385888663OTOGLc.6128A>G (p.Glu2043Gly)
c.68A>G (p.Glu23Gly)
c.5993A>G (p.Glu1998Gly)
c.1429A>G
c.6101A>G (p.Glu2034Gly)
n.384A>G
c.6065A>G (p.Glu2022Gly)
c.152A>G (p.Glu51Gly)
c.256A>G
c.6152A>G (p.Glu2051Gly)
c.5999A>G (p.Glu2000Gly)
c.5786A>G (p.Glu1929Gly)
c.5966A>G (p.Glu1989Gly)
 gnomAD v3 gnomAD v4
12g.80358677A>TCA385888664OTOGLc.6128A>T (p.Glu2043Val)
c.68A>T (p.Glu23Val)
c.5993A>T (p.Glu1998Val)
c.1429A>T
c.6101A>T (p.Glu2034Val)
n.384A>T
c.6065A>T (p.Glu2022Val)
c.152A>T (p.Glu51Val)
c.256A>T
c.6152A>T (p.Glu2051Val)
c.5999A>T (p.Glu2000Val)
c.5786A>T (p.Glu1929Val)
c.5966A>T (p.Glu1989Val)
12g.80358678A>CCA385888665OTOGLc.6129A>C (p.Glu2043Asp)
c.69A>C (p.Glu23Asp)
c.5994A>C (p.Glu1998Asp)
c.1430A>C
c.6102A>C (p.Glu2034Asp)
n.385A>C
c.6066A>C (p.Glu2022Asp)
c.153A>C (p.Glu51Asp)
c.257A>C
c.6153A>C (p.Glu2051Asp)
c.6000A>C (p.Glu2000Asp)
c.5787A>C (p.Glu1929Asp)
c.5967A>C (p.Glu1989Asp)
12g.80358678A>GCA480823034OTOGLc.6129A>G (p.Glu2043=)
c.69A>G (p.Glu23=)
c.5994A>G (p.Glu1998=)
c.1430A>G
c.6102A>G (p.Glu2034=)
n.385A>G
c.6066A>G (p.Glu2022=)
c.153A>G (p.Glu51=)
c.257A>G
c.6153A>G (p.Glu2051=)
c.6000A>G (p.Glu2000=)
c.5787A>G (p.Glu1929=)
c.5967A>G (p.Glu1989=)
 dbSNP
12g.80358678A>TCA385888666OTOGLc.6129A>T (p.Glu2043Asp)
c.69A>T (p.Glu23Asp)
c.5994A>T (p.Glu1998Asp)
c.1430A>T
c.6102A>T (p.Glu2034Asp)
n.385A>T
c.6066A>T (p.Glu2022Asp)
c.153A>T (p.Glu51Asp)
c.257A>T
c.6153A>T (p.Glu2051Asp)
c.6000A>T (p.Glu2000Asp)
c.5787A>T (p.Glu1929Asp)
c.5967A>T (p.Glu1989Asp)
12g.80358679C>ACA385888667OTOGLc.6130C>A (p.Pro2044Thr)
c.70C>A (p.Pro24Thr)
c.5995C>A (p.Pro1999Thr)
c.1431C>A
c.6103C>A (p.Pro2035Thr)
n.386C>A
c.6067C>A (p.Pro2023Thr)
c.154C>A (p.Pro52Thr)
c.258C>A
c.6154C>A (p.Pro2052Thr)
c.6001C>A (p.Pro2001Thr)
c.5788C>A (p.Pro1930Thr)
c.5968C>A (p.Pro1990Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.80358679C=CA2049208483OTOGLc.6130C= (p.Pro2044=)
c.70C= (p.Pro24=)
c.5995C= (p.Pro1999=)
c.1431C=
c.6103C= (p.Pro2035=)
n.386C=
c.6067C= (p.Pro2023=)
c.154C= (p.Pro52=)
c.258C=
c.6154C= (p.Pro2052=)
c.6001C= (p.Pro2001=)
c.5788C= (p.Pro1930=)
c.5968C= (p.Pro1990=)
12g.80358679C>GCA385888669OTOGLc.6130C>G (p.Pro2044Ala)
c.70C>G (p.Pro24Ala)
c.5995C>G (p.Pro1999Ala)
c.1431C>G
c.6103C>G (p.Pro2035Ala)
n.386C>G
c.6067C>G (p.Pro2023Ala)
c.154C>G (p.Pro52Ala)
c.258C>G
c.6154C>G (p.Pro2052Ala)
c.6001C>G (p.Pro2001Ala)
c.5788C>G (p.Pro1930Ala)
c.5968C>G (p.Pro1990Ala)
12g.80358679C>TCA385888668OTOGLc.6130C>T (p.Pro2044Ser)
c.70C>T (p.Pro24Ser)
c.5995C>T (p.Pro1999Ser)
c.1431C>T
c.6103C>T (p.Pro2035Ser)
n.386C>T
c.6067C>T (p.Pro2023Ser)
c.154C>T (p.Pro52Ser)
c.258C>T
c.6154C>T (p.Pro2052Ser)
c.6001C>T (p.Pro2001Ser)
c.5788C>T (p.Pro1930Ser)
c.5968C>T (p.Pro1990Ser)
12g.80358680C>ACA385888670OTOGLc.6131C>A (p.Pro2044Gln)
c.71C>A (p.Pro24Gln)
c.5996C>A (p.Pro1999Gln)
c.1432C>A
c.6104C>A (p.Pro2035Gln)
n.387C>A
c.6068C>A (p.Pro2023Gln)
c.155C>A (p.Pro52Gln)
c.259C>A
c.6155C>A (p.Pro2052Gln)
c.6002C>A (p.Pro2001Gln)
c.5789C>A (p.Pro1930Gln)
c.5969C>A (p.Pro1990Gln)
12g.80358680C>GCA385888671OTOGLc.6131C>G (p.Pro2044Arg)
c.71C>G (p.Pro24Arg)
c.5996C>G (p.Pro1999Arg)
c.1432C>G
c.6104C>G (p.Pro2035Arg)
n.387C>G
c.6068C>G (p.Pro2023Arg)
c.155C>G (p.Pro52Arg)
c.259C>G
c.6155C>G (p.Pro2052Arg)
c.6002C>G (p.Pro2001Arg)
c.5789C>G (p.Pro1930Arg)
c.5969C>G (p.Pro1990Arg)
12g.80358680C>TCA385888672OTOGLc.6131C>T (p.Pro2044Leu)
c.71C>T (p.Pro24Leu)
c.5996C>T (p.Pro1999Leu)
c.1432C>T
c.6104C>T (p.Pro2035Leu)
n.387C>T
c.6068C>T (p.Pro2023Leu)
c.155C>T (p.Pro52Leu)
c.259C>T
c.6155C>T (p.Pro2052Leu)
c.6002C>T (p.Pro2001Leu)
c.5789C>T (p.Pro1930Leu)
c.5969C>T (p.Pro1990Leu)
12g.80358681_80358684dupCA2575235837OTOGLc.6132_6135dup (p.Leu2046LysfsTer?)
c.72_75dup (p.Leu26LysfsTer?)
c.5997_6000dup (p.Leu2001LysfsTer?)
c.1433_1436dup
c.6105_6108dup (p.Leu2037LysfsTer?)
n.388_391dup
c.6069_6072dup (p.Leu2025LysfsTer?)
c.156_159dup (p.Leu54LysfsTer?)
c.260_263dup
c.6156_6159dup (p.Leu2054LysfsTer?)
c.6003_6006dup (p.Leu2003LysfsTer?)
c.5790_5793dup (p.Leu1932LysfsTer?)
c.5970_5973dup (p.Leu1992LysfsTer?)
 gnomAD v4
12g.80358681A=CA2049208484OTOGLc.6132A= (p.Pro2044=)
c.72A= (p.Pro24=)
c.5997A= (p.Pro1999=)
c.1433A=
c.6105A= (p.Pro2035=)
n.388A=
c.6069A= (p.Pro2023=)
c.156A= (p.Pro52=)
c.260A=
c.6156A= (p.Pro2052=)
c.6003A= (p.Pro2001=)
c.5790A= (p.Pro1930=)
c.5970A= (p.Pro1990=)
12g.80358681A>CCA480823052OTOGLc.6132A>C (p.Pro2044=)
c.72A>C (p.Pro24=)
c.5997A>C (p.Pro1999=)
c.1433A>C
c.6105A>C (p.Pro2035=)
n.388A>C
c.6069A>C (p.Pro2023=)
c.156A>C (p.Pro52=)
c.260A>C
c.6156A>C (p.Pro2052=)
c.6003A>C (p.Pro2001=)
c.5790A>C (p.Pro1930=)
c.5970A>C (p.Pro1990=)
12g.80358681A>GCA480823054OTOGLc.6132A>G (p.Pro2044=)
c.72A>G (p.Pro24=)
c.5997A>G (p.Pro1999=)
c.1433A>G
c.6105A>G (p.Pro2035=)
n.388A>G
c.6069A>G (p.Pro2023=)
c.156A>G (p.Pro52=)
c.260A>G
c.6156A>G (p.Pro2052=)
c.6003A>G (p.Pro2001=)
c.5790A>G (p.Pro1930=)
c.5970A>G (p.Pro1990=)
 ClinVar dbSNP gnomAD v4
12g.80358681A>TCA480823056OTOGLc.6132A>T (p.Pro2044=)
c.72A>T (p.Pro24=)
c.5997A>T (p.Pro1999=)
c.1433A>T
c.6105A>T (p.Pro2035=)
n.388A>T
c.6069A>T (p.Pro2023=)
c.156A>T (p.Pro52=)
c.260A>T
c.6156A>T (p.Pro2052=)
c.6003A>T (p.Pro2001=)
c.5790A>T (p.Pro1930=)
c.5970A>T (p.Pro1990=)
12g.80358682A>CCA385888673OTOGLc.6133A>C (p.Asn2045His)
c.73A>C (p.Asn25His)
c.5998A>C (p.Asn2000His)
c.1434A>C
c.6106A>C (p.Asn2036His)
n.389A>C
c.6070A>C (p.Asn2024His)
c.157A>C (p.Asn53His)
c.261A>C
c.6157A>C (p.Asn2053His)
c.6004A>C (p.Asn2002His)
c.5791A>C (p.Asn1931His)
c.5971A>C (p.Asn1991His)
12g.80358682A>GCA385888674OTOGLc.6133A>G (p.Asn2045Asp)
c.73A>G (p.Asn25Asp)
c.5998A>G (p.Asn2000Asp)
c.1434A>G
c.6106A>G (p.Asn2036Asp)
n.389A>G
c.6070A>G (p.Asn2024Asp)
c.157A>G (p.Asn53Asp)
c.261A>G
c.6157A>G (p.Asn2053Asp)
c.6004A>G (p.Asn2002Asp)
c.5791A>G (p.Asn1931Asp)
c.5971A>G (p.Asn1991Asp)
12g.80358682A>TCA385888675OTOGLc.6133A>T (p.Asn2045Tyr)
c.73A>T (p.Asn25Tyr)
c.5998A>T (p.Asn2000Tyr)
c.1434A>T
c.6106A>T (p.Asn2036Tyr)
n.389A>T
c.6070A>T (p.Asn2024Tyr)
c.157A>T (p.Asn53Tyr)
c.261A>T
c.6157A>T (p.Asn2053Tyr)
c.6004A>T (p.Asn2002Tyr)
c.5791A>T (p.Asn1931Tyr)
c.5971A>T (p.Asn1991Tyr)
12g.80358683A>CCA385888676OTOGLc.6134A>C (p.Asn2045Thr)
c.74A>C (p.Asn25Thr)
c.5999A>C (p.Asn2000Thr)
c.1435A>C
c.6107A>C (p.Asn2036Thr)
n.390A>C
c.6071A>C (p.Asn2024Thr)
c.158A>C (p.Asn53Thr)
c.262A>C
c.6158A>C (p.Asn2053Thr)
c.6005A>C (p.Asn2002Thr)
c.5792A>C (p.Asn1931Thr)
c.5972A>C (p.Asn1991Thr)
12g.80358683A>GCA385888677OTOGLc.6134A>G (p.Asn2045Ser)
c.74A>G (p.Asn25Ser)
c.5999A>G (p.Asn2000Ser)
c.1435A>G
c.6107A>G (p.Asn2036Ser)
n.390A>G
c.6071A>G (p.Asn2024Ser)
c.158A>G (p.Asn53Ser)
c.262A>G
c.6158A>G (p.Asn2053Ser)
c.6005A>G (p.Asn2002Ser)
c.5792A>G (p.Asn1931Ser)
c.5972A>G (p.Asn1991Ser)
12g.80358683A>TCA385888678OTOGLc.6134A>T (p.Asn2045Ile)
c.74A>T (p.Asn25Ile)
c.5999A>T (p.Asn2000Ile)
c.1435A>T
c.6107A>T (p.Asn2036Ile)
n.390A>T
c.6071A>T (p.Asn2024Ile)
c.158A>T (p.Asn53Ile)
c.262A>T
c.6158A>T (p.Asn2053Ile)
c.6005A>T (p.Asn2002Ile)
c.5792A>T (p.Asn1931Ile)
c.5972A>T (p.Asn1991Ile)
12g.80358684C>ACA385888679OTOGLc.6135C>A (p.Asn2045Lys)
c.75C>A (p.Asn25Lys)
c.6000C>A (p.Asn2000Lys)
c.1436C>A
c.6108C>A (p.Asn2036Lys)
n.391C>A
c.6072C>A (p.Asn2024Lys)
c.159C>A (p.Asn53Lys)
c.263C>A
c.6159C>A (p.Asn2053Lys)
c.6006C>A (p.Asn2002Lys)
c.5793C>A (p.Asn1931Lys)
c.5973C>A (p.Asn1991Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.80358684C=CA2049208485OTOGLc.6135C= (p.Asn2045=)
c.75C= (p.Asn25=)
c.6000C= (p.Asn2000=)
c.1436C=
c.6108C= (p.Asn2036=)
n.391C=
c.6072C= (p.Asn2024=)
c.159C= (p.Asn53=)
c.263C=
c.6159C= (p.Asn2053=)
c.6006C= (p.Asn2002=)
c.5793C= (p.Asn1931=)
c.5973C= (p.Asn1991=)
12g.80358684C>GCA385888680OTOGLc.6135C>G (p.Asn2045Lys)
c.75C>G (p.Asn25Lys)
c.6000C>G (p.Asn2000Lys)
c.1436C>G
c.6108C>G (p.Asn2036Lys)
n.391C>G
c.6072C>G (p.Asn2024Lys)
c.159C>G (p.Asn53Lys)
c.263C>G
c.6159C>G (p.Asn2053Lys)
c.6006C>G (p.Asn2002Lys)
c.5793C>G (p.Asn1931Lys)
c.5973C>G (p.Asn1991Lys)
 gnomAD v4
12g.80358684C>TCA240239597OTOGLc.6135C>T (p.Asn2045=)
c.75C>T (p.Asn25=)
c.6000C>T (p.Asn2000=)
c.1436C>T
c.6108C>T (p.Asn2036=)
n.391C>T
c.6072C>T (p.Asn2024=)
c.159C>T (p.Asn53=)
c.263C>T
c.6159C>T (p.Asn2053=)
c.6006C>T (p.Asn2002=)
c.5793C>T (p.Asn1931=)
c.5973C>T (p.Asn1991=)
 dbSNP
12g.80358685C>ACA385888683OTOGLc.6136C>A (p.Leu2046Ile)
c.76C>A (p.Leu26Ile)
c.6001C>A (p.Leu2001Ile)
c.1437C>A
c.6109C>A (p.Leu2037Ile)
n.392C>A
c.6073C>A (p.Leu2025Ile)
c.160C>A (p.Leu54Ile)
c.264C>A
c.6160C>A (p.Leu2054Ile)
c.6007C>A (p.Leu2003Ile)
c.5794C>A (p.Leu1932Ile)
c.5974C>A (p.Leu1992Ile)
12g.80358685C>GCA385888682OTOGLc.6136C>G (p.Leu2046Val)
c.76C>G (p.Leu26Val)
c.6001C>G (p.Leu2001Val)
c.1437C>G
c.6109C>G (p.Leu2037Val)
n.392C>G
c.6073C>G (p.Leu2025Val)
c.160C>G (p.Leu54Val)
c.264C>G
c.6160C>G (p.Leu2054Val)
c.6007C>G (p.Leu2003Val)
c.5794C>G (p.Leu1932Val)
c.5974C>G (p.Leu1992Val)
12g.80358685C>TCA385888681OTOGLc.6136C>T (p.Leu2046Phe)
c.76C>T (p.Leu26Phe)
c.6001C>T (p.Leu2001Phe)
c.1437C>T
c.6109C>T (p.Leu2037Phe)
n.392C>T
c.6073C>T (p.Leu2025Phe)
c.160C>T (p.Leu54Phe)
c.264C>T
c.6160C>T (p.Leu2054Phe)
c.6007C>T (p.Leu2003Phe)
c.5794C>T (p.Leu1932Phe)
c.5974C>T (p.Leu1992Phe)
 gnomAD v4 COSMIC COSMIC COSMIC
12g.80358685_80358686delinsCTCA2049208486OTOGLc.6136_6137delinsCT (p.Leu2046=)
c.76_77delinsCT (p.Leu26=)
c.6001_6002delinsCT (p.Leu2001=)
c.1437_1438delinsCT
c.6109_6110delinsCT (p.Leu2037=)
n.392_393delinsCT
c.6073_6074delinsCT (p.Leu2025=)
c.160_161delinsCT (p.Leu54=)
c.264_265delinsCT
c.6160_6161delinsCT (p.Leu2054=)
c.6007_6008delinsCT (p.Leu2003=)
c.5794_5795delinsCT (p.Leu1932=)
c.5974_5975delinsCT (p.Leu1992=)
12g.80358686T>ACA385888684OTOGLc.6137T>A (p.Leu2046His)
c.77T>A (p.Leu26His)
c.6002T>A (p.Leu2001His)
c.1438T>A
c.6110T>A (p.Leu2037His)
n.393T>A
c.6074T>A (p.Leu2025His)
c.161T>A (p.Leu54His)
c.265T>A
c.6161T>A (p.Leu2054His)
c.6008T>A (p.Leu2003His)
c.5795T>A (p.Leu1932His)
c.5975T>A (p.Leu1992His)
12g.80358686T>CCA385888685OTOGLc.6137T>C (p.Leu2046Pro)
c.77T>C (p.Leu26Pro)
c.6002T>C (p.Leu2001Pro)
c.1438T>C
c.6110T>C (p.Leu2037Pro)
n.393T>C
c.6074T>C (p.Leu2025Pro)
c.161T>C (p.Leu54Pro)
c.265T>C
c.6161T>C (p.Leu2054Pro)
c.6008T>C (p.Leu2003Pro)
c.5795T>C (p.Leu1932Pro)
c.5975T>C (p.Leu1992Pro)
 gnomAD v4
12g.80358686T>GCA385888686OTOGLc.6137T>G (p.Leu2046Arg)
c.77T>G (p.Leu26Arg)
c.6002T>G (p.Leu2001Arg)
c.1438T>G
c.6110T>G (p.Leu2037Arg)
n.393T>G
c.6074T>G (p.Leu2025Arg)
c.161T>G (p.Leu54Arg)
c.265T>G
c.6161T>G (p.Leu2054Arg)
c.6008T>G (p.Leu2003Arg)
c.5795T>G (p.Leu1932Arg)
c.5975T>G (p.Leu1992Arg)
 dbSNP gnomAD v4
12g.80358686T=CA2049208487OTOGLc.6137T= (p.Leu2046=)
c.77T= (p.Leu26=)
c.6002T= (p.Leu2001=)
c.1438T=
c.6110T= (p.Leu2037=)
n.393T=
c.6074T= (p.Leu2025=)
c.161T= (p.Leu54=)
c.265T=
c.6161T= (p.Leu2054=)
c.6008T= (p.Leu2003=)
c.5795T= (p.Leu1932=)
c.5975T= (p.Leu1992=)
12g.80358688delCA240239625OTOGLc.6139del (p.Cys2047ValfsTer12)
c.79del (p.Cys27ValfsTer12)
c.6004del (p.Cys2002ValfsTer12)
c.1440del
c.6112del (p.Cys2038ValfsTer12)
n.395del
c.6076del (p.Cys2026ValfsTer12)
c.163del (p.Cys55ValfsTer12)
c.267del
c.6163del (p.Cys2055ValfsTer12)
c.6010del (p.Cys2004ValfsTer12)
c.5797del (p.Cys1933ValfsTer12)
c.5977del (p.Cys1993ValfsTer12)
 dbSNP gnomAD v4
12g.80358687T>ACA480823086OTOGLc.6138T>A (p.Leu2046=)
c.78T>A (p.Leu26=)
c.6003T>A (p.Leu2001=)
c.1439T>A
c.6111T>A (p.Leu2037=)
n.394T>A
c.6075T>A (p.Leu2025=)
c.162T>A (p.Leu54=)
c.266T>A
c.6162T>A (p.Leu2054=)
c.6009T>A (p.Leu2003=)
c.5796T>A (p.Leu1932=)
c.5976T>A (p.Leu1992=)
12g.80358687T>CCA480823087OTOGLc.6138T>C (p.Leu2046=)
c.78T>C (p.Leu26=)
c.6003T>C (p.Leu2001=)
c.1439T>C
c.6111T>C (p.Leu2037=)
n.394T>C
c.6075T>C (p.Leu2025=)
c.162T>C (p.Leu54=)
c.266T>C
c.6162T>C (p.Leu2054=)
c.6009T>C (p.Leu2003=)
c.5796T>C (p.Leu1932=)
c.5976T>C (p.Leu1992=)
12g.80358687T>GCA480823089OTOGLc.6138T>G (p.Leu2046=)
c.78T>G (p.Leu26=)
c.6003T>G (p.Leu2001=)
c.1439T>G
c.6111T>G (p.Leu2037=)
n.394T>G
c.6075T>G (p.Leu2025=)
c.162T>G (p.Leu54=)
c.266T>G
c.6162T>G (p.Leu2054=)
c.6009T>G (p.Leu2003=)
c.5796T>G (p.Leu1932=)
c.5976T>G (p.Leu1992=)
12g.80358688T>ACA385888687OTOGLc.6139T>A (p.Cys2047Ser)
c.79T>A (p.Cys27Ser)
c.6004T>A (p.Cys2002Ser)
c.1440T>A
c.6112T>A (p.Cys2038Ser)
n.395T>A
c.6076T>A (p.Cys2026Ser)
c.163T>A (p.Cys55Ser)
c.267T>A
c.6163T>A (p.Cys2055Ser)
c.6010T>A (p.Cys2004Ser)
c.5797T>A (p.Cys1933Ser)
c.5977T>A (p.Cys1993Ser)
12g.80358688T>CCA6701929OTOGLc.6139T>C (p.Cys2047Arg)
c.79T>C (p.Cys27Arg)
c.6004T>C (p.Cys2002Arg)
c.1440T>C
c.6112T>C (p.Cys2038Arg)
n.395T>C
c.6076T>C (p.Cys2026Arg)
c.163T>C (p.Cys55Arg)
c.267T>C
c.6163T>C (p.Cys2055Arg)
c.6010T>C (p.Cys2004Arg)
c.5797T>C (p.Cys1933Arg)
c.5977T>C (p.Cys1993Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358688T>GCA385888688OTOGLc.6139T>G (p.Cys2047Gly)
c.79T>G (p.Cys27Gly)
c.6004T>G (p.Cys2002Gly)
c.1440T>G
c.6112T>G (p.Cys2038Gly)
n.395T>G
c.6076T>G (p.Cys2026Gly)
c.163T>G (p.Cys55Gly)
c.267T>G
c.6163T>G (p.Cys2055Gly)
c.6010T>G (p.Cys2004Gly)
c.5797T>G (p.Cys1933Gly)
c.5977T>G (p.Cys1993Gly)
 gnomAD v4
12g.80358688T=CA2049208488OTOGLc.6139T= (p.Cys2047=)
c.79T= (p.Cys27=)
c.6004T= (p.Cys2002=)
c.1440T=
c.6112T= (p.Cys2038=)
n.395T=
c.6076T= (p.Cys2026=)
c.163T= (p.Cys55=)
c.267T=
c.6163T= (p.Cys2055=)
c.6010T= (p.Cys2004=)
c.5797T= (p.Cys1933=)
c.5977T= (p.Cys1993=)
12g.80358689delCA2620017097OTOGLc.6140del (p.Cys2047PhefsTer12)
c.80del (p.Cys27PhefsTer12)
c.6005del (p.Cys2002PhefsTer12)
c.1441del
c.6113del (p.Cys2038PhefsTer12)
n.396del
c.6077del (p.Cys2026PhefsTer12)
c.164del (p.Cys55PhefsTer12)
c.268del
c.6164del (p.Cys2055PhefsTer12)
c.6011del (p.Cys2004PhefsTer12)
c.5798del (p.Cys1933PhefsTer12)
c.5978del (p.Cys1993PhefsTer12)
 gnomAD v4
12g.80358689G>ACA385888689OTOGLc.6140G>A (p.Cys2047Tyr)
c.80G>A (p.Cys27Tyr)
c.6005G>A (p.Cys2002Tyr)
c.1441G>A
c.6113G>A (p.Cys2038Tyr)
n.396G>A
c.6077G>A (p.Cys2026Tyr)
c.164G>A (p.Cys55Tyr)
c.268G>A
c.6164G>A (p.Cys2055Tyr)
c.6011G>A (p.Cys2004Tyr)
c.5798G>A (p.Cys1933Tyr)
c.5978G>A (p.Cys1993Tyr)
 gnomAD v4
12g.80358689G>CCA385888690OTOGLc.6140G>C (p.Cys2047Ser)
c.80G>C (p.Cys27Ser)
c.6005G>C (p.Cys2002Ser)
c.1441G>C
c.6113G>C (p.Cys2038Ser)
n.396G>C
c.6077G>C (p.Cys2026Ser)
c.164G>C (p.Cys55Ser)
c.268G>C
c.6164G>C (p.Cys2055Ser)
c.6011G>C (p.Cys2004Ser)
c.5798G>C (p.Cys1933Ser)
c.5978G>C (p.Cys1993Ser)
12g.80358689G>TCA385888691OTOGLc.6140G>T (p.Cys2047Phe)
c.80G>T (p.Cys27Phe)
c.6005G>T (p.Cys2002Phe)
c.1441G>T
c.6113G>T (p.Cys2038Phe)
n.396G>T
c.6077G>T (p.Cys2026Phe)
c.164G>T (p.Cys55Phe)
c.268G>T
c.6164G>T (p.Cys2055Phe)
c.6011G>T (p.Cys2004Phe)
c.5798G>T (p.Cys1933Phe)
c.5978G>T (p.Cys1993Phe)
12g.80358690T>ACA385888692OTOGLc.6141T>A (p.Cys2047Ter)
c.81T>A (p.Cys27Ter)
c.6006T>A (p.Cys2002Ter)
c.1442T>A
c.6114T>A (p.Cys2038Ter)
n.397T>A
c.6078T>A (p.Cys2026Ter)
c.165T>A (p.Cys55Ter)
c.269T>A
c.6165T>A (p.Cys2055Ter)
c.6012T>A (p.Cys2004Ter)
c.5799T>A (p.Cys1933Ter)
c.5979T>A (p.Cys1993Ter)
12g.80358690T>CCA480823106OTOGLc.6141T>C (p.Cys2047=)
c.81T>C (p.Cys27=)
c.6006T>C (p.Cys2002=)
c.1442T>C
c.6114T>C (p.Cys2038=)
n.397T>C
c.6078T>C (p.Cys2026=)
c.165T>C (p.Cys55=)
c.269T>C
c.6165T>C (p.Cys2055=)
c.6012T>C (p.Cys2004=)
c.5799T>C (p.Cys1933=)
c.5979T>C (p.Cys1993=)
12g.80358690T>GCA385888693OTOGLc.6141T>G (p.Cys2047Trp)
c.81T>G (p.Cys27Trp)
c.6006T>G (p.Cys2002Trp)
c.1442T>G
c.6114T>G (p.Cys2038Trp)
n.397T>G
c.6078T>G (p.Cys2026Trp)
c.165T>G (p.Cys55Trp)
c.269T>G
c.6165T>G (p.Cys2055Trp)
c.6012T>G (p.Cys2004Trp)
c.5799T>G (p.Cys1933Trp)
c.5979T>G (p.Cys1993Trp)
12g.80358691C>ACA385888694OTOGLc.6142C>A (p.Pro2048Thr)
c.82C>A (p.Pro28Thr)
c.6007C>A (p.Pro2003Thr)
c.1443C>A
c.6115C>A (p.Pro2039Thr)
n.398C>A
c.6079C>A (p.Pro2027Thr)
c.166C>A (p.Pro56Thr)
c.270C>A
c.6166C>A (p.Pro2056Thr)
c.6013C>A (p.Pro2005Thr)
c.5800C>A (p.Pro1934Thr)
c.5980C>A (p.Pro1994Thr)
 COSMIC COSMIC
12g.80358691C=CA2049208489OTOGLc.6142C= (p.Pro2048=)
c.82C= (p.Pro28=)
c.6007C= (p.Pro2003=)
c.1443C=
c.6115C= (p.Pro2039=)
n.398C=
c.6079C= (p.Pro2027=)
c.166C= (p.Pro56=)
c.270C=
c.6166C= (p.Pro2056=)
c.6013C= (p.Pro2005=)
c.5800C= (p.Pro1934=)
c.5980C= (p.Pro1994=)
12g.80358691C>GCA385888696OTOGLc.6142C>G (p.Pro2048Ala)
c.82C>G (p.Pro28Ala)
c.6007C>G (p.Pro2003Ala)
c.1443C>G
c.6115C>G (p.Pro2039Ala)
n.398C>G
c.6079C>G (p.Pro2027Ala)
c.166C>G (p.Pro56Ala)
c.270C>G
c.6166C>G (p.Pro2056Ala)
c.6013C>G (p.Pro2005Ala)
c.5800C>G (p.Pro1934Ala)
c.5980C>G (p.Pro1994Ala)
12g.80358691C>TCA385888695OTOGLc.6142C>T (p.Pro2048Ser)
c.82C>T (p.Pro28Ser)
c.6007C>T (p.Pro2003Ser)
c.1443C>T
c.6115C>T (p.Pro2039Ser)
n.398C>T
c.6079C>T (p.Pro2027Ser)
c.166C>T (p.Pro56Ser)
c.270C>T
c.6166C>T (p.Pro2056Ser)
c.6013C>T (p.Pro2005Ser)
c.5800C>T (p.Pro1934Ser)
c.5980C>T (p.Pro1994Ser)
 dbSNP gnomAD v4
12g.80358692C>ACA385888697OTOGLc.6143C>A (p.Pro2048His)
c.83C>A (p.Pro28His)
c.6008C>A (p.Pro2003His)
c.1444C>A
c.6116C>A (p.Pro2039His)
n.399C>A
c.6080C>A (p.Pro2027His)
c.167C>A (p.Pro56His)
c.271C>A
c.6167C>A (p.Pro2056His)
c.6014C>A (p.Pro2005His)
c.5801C>A (p.Pro1934His)
c.5981C>A (p.Pro1994His)
12g.80358692C=CA2049208490OTOGLc.6143C= (p.Pro2048=)
c.83C= (p.Pro28=)
c.6008C= (p.Pro2003=)
c.1444C=
c.6116C= (p.Pro2039=)
n.399C=
c.6080C= (p.Pro2027=)
c.167C= (p.Pro56=)
c.271C=
c.6167C= (p.Pro2056=)
c.6014C= (p.Pro2005=)
c.5801C= (p.Pro1934=)
c.5981C= (p.Pro1994=)
12g.80358692C>GCA385888698OTOGLc.6143C>G (p.Pro2048Arg)
c.83C>G (p.Pro28Arg)
c.6008C>G (p.Pro2003Arg)
c.1444C>G
c.6116C>G (p.Pro2039Arg)
n.399C>G
c.6080C>G (p.Pro2027Arg)
c.167C>G (p.Pro56Arg)
c.271C>G
c.6167C>G (p.Pro2056Arg)
c.6014C>G (p.Pro2005Arg)
c.5801C>G (p.Pro1934Arg)
c.5981C>G (p.Pro1994Arg)
12g.80358692C>TCA385888699OTOGLc.6143C>T (p.Pro2048Leu)
c.83C>T (p.Pro28Leu)
c.6008C>T (p.Pro2003Leu)
c.1444C>T
c.6116C>T (p.Pro2039Leu)
n.399C>T
c.6080C>T (p.Pro2027Leu)
c.167C>T (p.Pro56Leu)
c.271C>T
c.6167C>T (p.Pro2056Leu)
c.6014C>T (p.Pro2005Leu)
c.5801C>T (p.Pro1934Leu)
c.5981C>T (p.Pro1994Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358693T>ACA480823120OTOGLc.6144T>A (p.Pro2048=)
c.84T>A (p.Pro28=)
c.6009T>A (p.Pro2003=)
c.1445T>A
c.6117T>A (p.Pro2039=)
n.400T>A
c.6081T>A (p.Pro2027=)
c.168T>A (p.Pro56=)
c.272T>A
c.6168T>A (p.Pro2056=)
c.6015T>A (p.Pro2005=)
c.5802T>A (p.Pro1934=)
c.5982T>A (p.Pro1994=)
12g.80358693T>CCA480823122OTOGLc.6144T>C (p.Pro2048=)
c.84T>C (p.Pro28=)
c.6009T>C (p.Pro2003=)
c.1445T>C
c.6117T>C (p.Pro2039=)
n.400T>C
c.6081T>C (p.Pro2027=)
c.168T>C (p.Pro56=)
c.272T>C
c.6168T>C (p.Pro2056=)
c.6015T>C (p.Pro2005=)
c.5802T>C (p.Pro1934=)
c.5982T>C (p.Pro1994=)
12g.80358693T>GCA480823124OTOGLc.6144T>G (p.Pro2048=)
c.84T>G (p.Pro28=)
c.6009T>G (p.Pro2003=)
c.1445T>G
c.6117T>G (p.Pro2039=)
n.400T>G
c.6081T>G (p.Pro2027=)
c.168T>G (p.Pro56=)
c.272T>G
c.6168T>G (p.Pro2056=)
c.6015T>G (p.Pro2005=)
c.5802T>G (p.Pro1934=)
c.5982T>G (p.Pro1994=)
12g.80358694A=CA2049208491OTOGLc.6145A= (p.Met2049=)
c.85A= (p.Met29=)
c.6010A= (p.Met2004=)
c.1446A=
c.6118A= (p.Met2040=)
n.401A=
c.6082A= (p.Met2028=)
c.169A= (p.Met57=)
c.273A=
c.6169A= (p.Met2057=)
c.6016A= (p.Met2006=)
c.5803A= (p.Met1935=)
c.5983A= (p.Met1995=)
12g.80358694A>CCA385888700OTOGLc.6145A>C (p.Met2049Leu)
c.85A>C (p.Met29Leu)
c.6010A>C (p.Met2004Leu)
c.1446A>C
c.6118A>C (p.Met2040Leu)
n.401A>C
c.6082A>C (p.Met2028Leu)
c.169A>C (p.Met57Leu)
c.273A>C
c.6169A>C (p.Met2057Leu)
c.6016A>C (p.Met2006Leu)
c.5803A>C (p.Met1935Leu)
c.5983A>C (p.Met1995Leu)
12g.80358694A>GCA385888701OTOGLc.6145A>G (p.Met2049Val)
c.85A>G (p.Met29Val)
c.6010A>G (p.Met2004Val)
c.1446A>G
c.6118A>G (p.Met2040Val)
n.401A>G
c.6082A>G (p.Met2028Val)
c.169A>G (p.Met57Val)
c.273A>G
c.6169A>G (p.Met2057Val)
c.6016A>G (p.Met2006Val)
c.5803A>G (p.Met1935Val)
c.5983A>G (p.Met1995Val)
 dbSNP gnomAD v3 gnomAD v4
12g.80358694A>TCA385888702OTOGLc.6145A>T (p.Met2049Leu)
c.85A>T (p.Met29Leu)
c.6010A>T (p.Met2004Leu)
c.1446A>T
c.6118A>T (p.Met2040Leu)
n.401A>T
c.6082A>T (p.Met2028Leu)
c.169A>T (p.Met57Leu)
c.273A>T
c.6169A>T (p.Met2057Leu)
c.6016A>T (p.Met2006Leu)
c.5803A>T (p.Met1935Leu)
c.5983A>T (p.Met1995Leu)
12g.80358695T>ACA385888705OTOGLc.6146T>A (p.Met2049Lys)
c.86T>A (p.Met29Lys)
c.6011T>A (p.Met2004Lys)
c.1447T>A
c.6119T>A (p.Met2040Lys)
n.402T>A
c.6083T>A (p.Met2028Lys)
c.170T>A (p.Met57Lys)
c.274T>A
c.6170T>A (p.Met2057Lys)
c.6017T>A (p.Met2006Lys)
c.5804T>A (p.Met1935Lys)
c.5984T>A (p.Met1995Lys)
12g.80358695T>CCA385888704OTOGLc.6146T>C (p.Met2049Thr)
c.86T>C (p.Met29Thr)
c.6011T>C (p.Met2004Thr)
c.1447T>C
c.6119T>C (p.Met2040Thr)
n.402T>C
c.6083T>C (p.Met2028Thr)
c.170T>C (p.Met57Thr)
c.274T>C
c.6170T>C (p.Met2057Thr)
c.6017T>C (p.Met2006Thr)
c.5804T>C (p.Met1935Thr)
c.5984T>C (p.Met1995Thr)
12g.80358695T>GCA385888703OTOGLc.6146T>G (p.Met2049Arg)
c.86T>G (p.Met29Arg)
c.6011T>G (p.Met2004Arg)
c.1447T>G
c.6119T>G (p.Met2040Arg)
n.402T>G
c.6083T>G (p.Met2028Arg)
c.170T>G (p.Met57Arg)
c.274T>G
c.6170T>G (p.Met2057Arg)
c.6017T>G (p.Met2006Arg)
c.5804T>G (p.Met1935Arg)
c.5984T>G (p.Met1995Arg)
12g.80358696G>ACA385888706OTOGLc.6147G>A (p.Met2049Ile)
c.87G>A (p.Met29Ile)
c.6012G>A (p.Met2004Ile)
c.1448G>A
c.6120G>A (p.Met2040Ile)
n.403G>A
c.6084G>A (p.Met2028Ile)
c.171G>A (p.Met57Ile)
c.275G>A
c.6171G>A (p.Met2057Ile)
c.6018G>A (p.Met2006Ile)
c.5805G>A (p.Met1935Ile)
c.5985G>A (p.Met1995Ile)
 dbSNP
12g.80358696G>CCA385888707OTOGLc.6147G>C (p.Met2049Ile)
c.87G>C (p.Met29Ile)
c.6012G>C (p.Met2004Ile)
c.1448G>C
c.6120G>C (p.Met2040Ile)
n.403G>C
c.6084G>C (p.Met2028Ile)
c.171G>C (p.Met57Ile)
c.275G>C
c.6171G>C (p.Met2057Ile)
c.6018G>C (p.Met2006Ile)
c.5805G>C (p.Met1935Ile)
c.5985G>C (p.Met1995Ile)
12g.80358696G=CA2049208492OTOGLc.6147G= (p.Met2049=)
c.87G= (p.Met29=)
c.6012G= (p.Met2004=)
c.1448G=
c.6120G= (p.Met2040=)
n.403G=
c.6084G= (p.Met2028=)
c.171G= (p.Met57=)
c.275G=
c.6171G= (p.Met2057=)
c.6018G= (p.Met2006=)
c.5805G= (p.Met1935=)
c.5985G= (p.Met1995=)
12g.80358696G>TCA385888708OTOGLc.6147G>T (p.Met2049Ile)
c.87G>T (p.Met29Ile)
c.6012G>T (p.Met2004Ile)
c.1448G>T
c.6120G>T (p.Met2040Ile)
n.403G>T
c.6084G>T (p.Met2028Ile)
c.171G>T (p.Met57Ile)
c.275G>T
c.6171G>T (p.Met2057Ile)
c.6018G>T (p.Met2006Ile)
c.5805G>T (p.Met1935Ile)
c.5985G>T (p.Met1995Ile)
12g.80358697C>ACA385888709OTOGLc.6148C>A (p.Pro2050Thr)
c.88C>A (p.Pro30Thr)
c.6013C>A (p.Pro2005Thr)
c.1449C>A
c.6121C>A (p.Pro2041Thr)
n.404C>A
c.6085C>A (p.Pro2029Thr)
c.172C>A (p.Pro58Thr)
c.276C>A
c.6172C>A (p.Pro2058Thr)
c.6019C>A (p.Pro2007Thr)
c.5806C>A (p.Pro1936Thr)
c.5986C>A (p.Pro1996Thr)
12g.80358697C>GCA385888710OTOGLc.6148C>G (p.Pro2050Ala)
c.88C>G (p.Pro30Ala)
c.6013C>G (p.Pro2005Ala)
c.1449C>G
c.6121C>G (p.Pro2041Ala)
n.404C>G
c.6085C>G (p.Pro2029Ala)
c.172C>G (p.Pro58Ala)
c.276C>G
c.6172C>G (p.Pro2058Ala)
c.6019C>G (p.Pro2007Ala)
c.5806C>G (p.Pro1936Ala)
c.5986C>G (p.Pro1996Ala)
12g.80358697C>TCA385888711OTOGLc.6148C>T (p.Pro2050Ser)
c.88C>T (p.Pro30Ser)
c.6013C>T (p.Pro2005Ser)
c.1449C>T
c.6121C>T (p.Pro2041Ser)
n.404C>T
c.6085C>T (p.Pro2029Ser)
c.172C>T (p.Pro58Ser)
c.276C>T
c.6172C>T (p.Pro2058Ser)
c.6019C>T (p.Pro2007Ser)
c.5806C>T (p.Pro1936Ser)
c.5986C>T (p.Pro1996Ser)
 COSMIC COSMIC
12g.80358698C>ACA385888712OTOGLc.6149C>A (p.Pro2050Gln)
c.89C>A (p.Pro30Gln)
c.6014C>A (p.Pro2005Gln)
c.1450C>A
c.6122C>A (p.Pro2041Gln)
n.405C>A
c.6086C>A (p.Pro2029Gln)
c.173C>A (p.Pro58Gln)
c.277C>A
c.6173C>A (p.Pro2058Gln)
c.6020C>A (p.Pro2007Gln)
c.5807C>A (p.Pro1936Gln)
c.5987C>A (p.Pro1996Gln)
12g.80358698C>GCA385888714OTOGLc.6149C>G (p.Pro2050Arg)
c.89C>G (p.Pro30Arg)
c.6014C>G (p.Pro2005Arg)
c.1450C>G
c.6122C>G (p.Pro2041Arg)
n.405C>G
c.6086C>G (p.Pro2029Arg)
c.173C>G (p.Pro58Arg)
c.277C>G
c.6173C>G (p.Pro2058Arg)
c.6020C>G (p.Pro2007Arg)
c.5807C>G (p.Pro1936Arg)
c.5987C>G (p.Pro1996Arg)
12g.80358698C>TCA385888713OTOGLc.6149C>T (p.Pro2050Leu)
c.89C>T (p.Pro30Leu)
c.6014C>T (p.Pro2005Leu)
c.1450C>T
c.6122C>T (p.Pro2041Leu)
n.405C>T
c.6086C>T (p.Pro2029Leu)
c.173C>T (p.Pro58Leu)
c.277C>T
c.6173C>T (p.Pro2058Leu)
c.6020C>T (p.Pro2007Leu)
c.5807C>T (p.Pro1936Leu)
c.5987C>T (p.Pro1996Leu)
12g.80358699A=CA2049208493OTOGLc.6150A= (p.Pro2050=)
c.90A= (p.Pro30=)
c.6015A= (p.Pro2005=)
c.1451A=
c.6123A= (p.Pro2041=)
n.406A=
c.6087A= (p.Pro2029=)
c.174A= (p.Pro58=)
c.278A=
c.6174A= (p.Pro2058=)
c.6021A= (p.Pro2007=)
c.5808A= (p.Pro1936=)
c.5988A= (p.Pro1996=)
12g.80358699A>CCA480823152OTOGLc.6150A>C (p.Pro2050=)
c.90A>C (p.Pro30=)
c.6015A>C (p.Pro2005=)
c.1451A>C
c.6123A>C (p.Pro2041=)
n.406A>C
c.6087A>C (p.Pro2029=)
c.174A>C (p.Pro58=)
c.278A>C
c.6174A>C (p.Pro2058=)
c.6021A>C (p.Pro2007=)
c.5808A>C (p.Pro1936=)
c.5988A>C (p.Pro1996=)
12g.80358699A>GCA6701930OTOGLc.6150A>G (p.Pro2050=)
c.90A>G (p.Pro30=)
c.6015A>G (p.Pro2005=)
c.1451A>G
c.6123A>G (p.Pro2041=)
n.406A>G
c.6087A>G (p.Pro2029=)
c.174A>G (p.Pro58=)
c.278A>G
c.6174A>G (p.Pro2058=)
c.6021A>G (p.Pro2007=)
c.5808A>G (p.Pro1936=)
c.5988A>G (p.Pro1996=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358699A>TCA480823156OTOGLc.6150A>T (p.Pro2050=)
c.90A>T (p.Pro30=)
c.6015A>T (p.Pro2005=)
c.1451A>T
c.6123A>T (p.Pro2041=)
n.406A>T
c.6087A>T (p.Pro2029=)
c.174A>T (p.Pro58=)
c.278A>T
c.6174A>T (p.Pro2058=)
c.6021A>T (p.Pro2007=)
c.5808A>T (p.Pro1936=)
c.5988A>T (p.Pro1996=)
 dbSNP
12g.80358700T>ACA385888715OTOGLc.6151T>A (p.Leu2051Ile)
c.91T>A (p.Leu31Ile)
c.6016T>A (p.Leu2006Ile)
c.1452T>A
c.6124T>A (p.Leu2042Ile)
n.407T>A
c.6088T>A (p.Leu2030Ile)
c.175T>A (p.Leu59Ile)
c.279T>A
c.6175T>A (p.Leu2059Ile)
c.6022T>A (p.Leu2008Ile)
c.5809T>A (p.Leu1937Ile)
c.5989T>A (p.Leu1997Ile)
12g.80358700T>CCA480823161OTOGLc.6151T>C (p.Leu2051=)
c.91T>C (p.Leu31=)
c.6016T>C (p.Leu2006=)
c.1452T>C
c.6124T>C (p.Leu2042=)
n.407T>C
c.6088T>C (p.Leu2030=)
c.175T>C (p.Leu59=)
c.279T>C
c.6175T>C (p.Leu2059=)
c.6022T>C (p.Leu2008=)
c.5809T>C (p.Leu1937=)
c.5989T>C (p.Leu1997=)
12g.80358700T>GCA385888716OTOGLc.6151T>G (p.Leu2051Val)
c.91T>G (p.Leu31Val)
c.6016T>G (p.Leu2006Val)
c.1452T>G
c.6124T>G (p.Leu2042Val)
n.407T>G
c.6088T>G (p.Leu2030Val)
c.175T>G (p.Leu59Val)
c.279T>G
c.6175T>G (p.Leu2059Val)
c.6022T>G (p.Leu2008Val)
c.5809T>G (p.Leu1937Val)
c.5989T>G (p.Leu1997Val)
12g.80358701T>ACA385888717OTOGLc.6152T>A (p.Leu2051Ter)
c.92T>A (p.Leu31Ter)
c.6017T>A (p.Leu2006Ter)
c.1453T>A
c.6125T>A (p.Leu2042Ter)
n.408T>A
c.6089T>A (p.Leu2030Ter)
c.176T>A (p.Leu59Ter)
c.280T>A
c.6176T>A (p.Leu2059Ter)
c.6023T>A (p.Leu2008Ter)
c.5810T>A (p.Leu1937Ter)
c.5990T>A (p.Leu1997Ter)
12g.80358701T>CCA385888718OTOGLc.6152T>C (p.Leu2051Ser)
c.92T>C (p.Leu31Ser)
c.6017T>C (p.Leu2006Ser)
c.1453T>C
c.6125T>C (p.Leu2042Ser)
n.408T>C
c.6089T>C (p.Leu2030Ser)
c.176T>C (p.Leu59Ser)
c.280T>C
c.6176T>C (p.Leu2059Ser)
c.6023T>C (p.Leu2008Ser)
c.5810T>C (p.Leu1937Ser)
c.5990T>C (p.Leu1997Ser)
 gnomAD v4
12g.80358701T>GCA385888719OTOGLc.6152T>G (p.Leu2051Ter)
c.92T>G (p.Leu31Ter)
c.6017T>G (p.Leu2006Ter)
c.1453T>G
c.6125T>G (p.Leu2042Ter)
n.408T>G
c.6089T>G (p.Leu2030Ter)
c.176T>G (p.Leu59Ter)
c.280T>G
c.6176T>G (p.Leu2059Ter)
c.6023T>G (p.Leu2008Ter)
c.5810T>G (p.Leu1937Ter)
c.5990T>G (p.Leu1997Ter)
12g.80358702A=CA2049208494OTOGLc.6153A= (p.Leu2051=)
c.93A= (p.Leu31=)
c.6018A= (p.Leu2006=)
c.1454A=
c.6126A= (p.Leu2042=)
n.409A=
c.6090A= (p.Leu2030=)
c.177A= (p.Leu59=)
c.281A=
c.6177A= (p.Leu2059=)
c.6024A= (p.Leu2008=)
c.5811A= (p.Leu1937=)
c.5991A= (p.Leu1997=)
12g.80358702A>CCA385888720OTOGLc.6153A>C (p.Leu2051Phe)
c.93A>C (p.Leu31Phe)
c.6018A>C (p.Leu2006Phe)
c.1454A>C
c.6126A>C (p.Leu2042Phe)
n.409A>C
c.6090A>C (p.Leu2030Phe)
c.177A>C (p.Leu59Phe)
c.281A>C
c.6177A>C (p.Leu2059Phe)
c.6024A>C (p.Leu2008Phe)
c.5811A>C (p.Leu1937Phe)
c.5991A>C (p.Leu1997Phe)
12g.80358702A>GCA480823169OTOGLc.6153A>G (p.Leu2051=)
c.93A>G (p.Leu31=)
c.6018A>G (p.Leu2006=)
c.1454A>G
c.6126A>G (p.Leu2042=)
n.409A>G
c.6090A>G (p.Leu2030=)
c.177A>G (p.Leu59=)
c.281A>G
c.6177A>G (p.Leu2059=)
c.6024A>G (p.Leu2008=)
c.5811A>G (p.Leu1937=)
c.5991A>G (p.Leu1997=)
 dbSNP gnomAD v3 gnomAD v4
12g.80358702A>TCA385888721OTOGLc.6153A>T (p.Leu2051Phe)
c.93A>T (p.Leu31Phe)
c.6018A>T (p.Leu2006Phe)
c.1454A>T
c.6126A>T (p.Leu2042Phe)
n.409A>T
c.6090A>T (p.Leu2030Phe)
c.177A>T (p.Leu59Phe)
c.281A>T
c.6177A>T (p.Leu2059Phe)
c.6024A>T (p.Leu2008Phe)
c.5811A>T (p.Leu1937Phe)
c.5991A>T (p.Leu1997Phe)
12g.80358703C>ACA385888722OTOGLc.6154C>A (p.Leu2052Ile)
c.94C>A (p.Leu32Ile)
c.6019C>A (p.Leu2007Ile)
c.1455C>A
c.6127C>A (p.Leu2043Ile)
n.410C>A
c.6091C>A (p.Leu2031Ile)
c.178C>A (p.Leu60Ile)
c.282C>A
c.6178C>A (p.Leu2060Ile)
c.6025C>A (p.Leu2009Ile)
c.5812C>A (p.Leu1938Ile)
c.5992C>A (p.Leu1998Ile)
12g.80358703C=CA2049208495OTOGLc.6154C= (p.Leu2052=)
c.94C= (p.Leu32=)
c.6019C= (p.Leu2007=)
c.1455C=
c.6127C= (p.Leu2043=)
n.410C=
c.6091C= (p.Leu2031=)
c.178C= (p.Leu60=)
c.282C=
c.6178C= (p.Leu2060=)
c.6025C= (p.Leu2009=)
c.5812C= (p.Leu1938=)
c.5992C= (p.Leu1998=)
12g.80358703C>GCA385888723OTOGLc.6154C>G (p.Leu2052Val)
c.94C>G (p.Leu32Val)
c.6019C>G (p.Leu2007Val)
c.1455C>G
c.6127C>G (p.Leu2043Val)
n.410C>G
c.6091C>G (p.Leu2031Val)
c.178C>G (p.Leu60Val)
c.282C>G
c.6178C>G (p.Leu2060Val)
c.6025C>G (p.Leu2009Val)
c.5812C>G (p.Leu1938Val)
c.5992C>G (p.Leu1998Val)
12g.80358703C>TCA385888724OTOGLc.6154C>T (p.Leu2052Phe)
c.94C>T (p.Leu32Phe)
c.6019C>T (p.Leu2007Phe)
c.1455C>T
c.6127C>T (p.Leu2043Phe)
n.410C>T
c.6091C>T (p.Leu2031Phe)
c.178C>T (p.Leu60Phe)
c.282C>T
c.6178C>T (p.Leu2060Phe)
c.6025C>T (p.Leu2009Phe)
c.5812C>T (p.Leu1938Phe)
c.5992C>T (p.Leu1998Phe)
 dbSNP
12g.80358704T>ACA385888725OTOGLc.6155T>A (p.Leu2052His)
c.95T>A (p.Leu32His)
c.6020T>A (p.Leu2007His)
c.1456T>A
c.6128T>A (p.Leu2043His)
n.411T>A
c.6092T>A (p.Leu2031His)
c.179T>A (p.Leu60His)
c.283T>A
c.6179T>A (p.Leu2060His)
c.6026T>A (p.Leu2009His)
c.5813T>A (p.Leu1938His)
c.5993T>A (p.Leu1998His)
12g.80358704T>CCA385888727OTOGLc.6155T>C (p.Leu2052Pro)
c.95T>C (p.Leu32Pro)
c.6020T>C (p.Leu2007Pro)
c.1456T>C
c.6128T>C (p.Leu2043Pro)
n.411T>C
c.6092T>C (p.Leu2031Pro)
c.179T>C (p.Leu60Pro)
c.283T>C
c.6179T>C (p.Leu2060Pro)
c.6026T>C (p.Leu2009Pro)
c.5813T>C (p.Leu1938Pro)
c.5993T>C (p.Leu1998Pro)
12g.80358704T>GCA385888726OTOGLc.6155T>G (p.Leu2052Arg)
c.95T>G (p.Leu32Arg)
c.6020T>G (p.Leu2007Arg)
c.1456T>G
c.6128T>G (p.Leu2043Arg)
n.411T>G
c.6092T>G (p.Leu2031Arg)
c.179T>G (p.Leu60Arg)
c.283T>G
c.6179T>G (p.Leu2060Arg)
c.6026T>G (p.Leu2009Arg)
c.5813T>G (p.Leu1938Arg)
c.5993T>G (p.Leu1998Arg)
12g.80358705C>ACA6701932OTOGLc.6156C>A (p.Leu2052=)
c.96C>A (p.Leu32=)
c.6021C>A (p.Leu2007=)
c.1457C>A
c.6129C>A (p.Leu2043=)
n.412C>A
c.6093C>A (p.Leu2031=)
c.180C>A (p.Leu60=)
c.284C>A
c.6180C>A (p.Leu2060=)
c.6027C>A (p.Leu2009=)
c.5814C>A (p.Leu1938=)
c.5994C>A (p.Leu1998=)
 dbSNP ExAC gnomAD v2
12g.80358705C=CA2049208496OTOGLc.6156C= (p.Leu2052=)
c.96C= (p.Leu32=)
c.6021C= (p.Leu2007=)
c.1457C=
c.6129C= (p.Leu2043=)
n.412C=
c.6093C= (p.Leu2031=)
c.180C= (p.Leu60=)
c.284C=
c.6180C= (p.Leu2060=)
c.6027C= (p.Leu2009=)
c.5814C= (p.Leu1938=)
c.5994C= (p.Leu1998=)
12g.80358705C>GCA480823191OTOGLc.6156C>G (p.Leu2052=)
c.96C>G (p.Leu32=)
c.6021C>G (p.Leu2007=)
c.1457C>G
c.6129C>G (p.Leu2043=)
n.412C>G
c.6093C>G (p.Leu2031=)
c.180C>G (p.Leu60=)
c.284C>G
c.6180C>G (p.Leu2060=)
c.6027C>G (p.Leu2009=)
c.5814C>G (p.Leu1938=)
c.5994C>G (p.Leu1998=)
 gnomAD v4
12g.80358705C>TCA6701931OTOGLc.6156C>T (p.Leu2052=)
c.96C>T (p.Leu32=)
c.6021C>T (p.Leu2007=)
c.1457C>T
c.6129C>T (p.Leu2043=)
n.412C>T
c.6093C>T (p.Leu2031=)
c.180C>T (p.Leu60=)
c.284C>T
c.6180C>T (p.Leu2060=)
c.6027C>T (p.Leu2009=)
c.5814C>T (p.Leu1938=)
c.5994C>T (p.Leu1998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358706A>CCA385888728OTOGLc.6157A>C (p.Asn2053His)
c.97A>C (p.Asn33His)
c.6022A>C (p.Asn2008His)
c.1458A>C
c.6130A>C (p.Asn2044His)
n.413A>C
c.6094A>C (p.Asn2032His)
c.181A>C (p.Asn61His)
c.285A>C
c.6181A>C (p.Asn2061His)
c.6028A>C (p.Asn2010His)
c.5815A>C (p.Asn1939His)
c.5995A>C (p.Asn1999His)
 gnomAD v4
12g.80358706A>GCA385888729OTOGLc.6157A>G (p.Asn2053Asp)
c.97A>G (p.Asn33Asp)
c.6022A>G (p.Asn2008Asp)
c.1458A>G
c.6130A>G (p.Asn2044Asp)
n.413A>G
c.6094A>G (p.Asn2032Asp)
c.181A>G (p.Asn61Asp)
c.285A>G
c.6181A>G (p.Asn2061Asp)
c.6028A>G (p.Asn2010Asp)
c.5815A>G (p.Asn1939Asp)
c.5995A>G (p.Asn1999Asp)
 dbSNP
12g.80358706A>TCA385888730OTOGLc.6157A>T (p.Asn2053Tyr)
c.97A>T (p.Asn33Tyr)
c.6022A>T (p.Asn2008Tyr)
c.1458A>T
c.6130A>T (p.Asn2044Tyr)
n.413A>T
c.6094A>T (p.Asn2032Tyr)
c.181A>T (p.Asn61Tyr)
c.285A>T
c.6181A>T (p.Asn2061Tyr)
c.6028A>T (p.Asn2010Tyr)
c.5815A>T (p.Asn1939Tyr)
c.5995A>T (p.Asn1999Tyr)
 gnomAD v4
12g.80358707A>CCA385888731OTOGLc.6158A>C (p.Asn2053Thr)
c.98A>C (p.Asn33Thr)
c.6023A>C (p.Asn2008Thr)
c.1459A>C
c.6131A>C (p.Asn2044Thr)
n.414A>C
c.6095A>C (p.Asn2032Thr)
c.182A>C (p.Asn61Thr)
c.286A>C
c.6182A>C (p.Asn2061Thr)
c.6029A>C (p.Asn2010Thr)
c.5816A>C (p.Asn1939Thr)
c.5996A>C (p.Asn1999Thr)
12g.80358707A>GCA385888732OTOGLc.6158A>G (p.Asn2053Ser)
c.98A>G (p.Asn33Ser)
c.6023A>G (p.Asn2008Ser)
c.1459A>G
c.6131A>G (p.Asn2044Ser)
n.414A>G
c.6095A>G (p.Asn2032Ser)
c.182A>G (p.Asn61Ser)
c.286A>G
c.6182A>G (p.Asn2061Ser)
c.6029A>G (p.Asn2010Ser)
c.5816A>G (p.Asn1939Ser)
c.5996A>G (p.Asn1999Ser)
 gnomAD v4
12g.80358707A>TCA385888733OTOGLc.6158A>T (p.Asn2053Ile)
c.98A>T (p.Asn33Ile)
c.6023A>T (p.Asn2008Ile)
c.1459A>T
c.6131A>T (p.Asn2044Ile)
n.414A>T
c.6095A>T (p.Asn2032Ile)
c.182A>T (p.Asn61Ile)
c.286A>T
c.6182A>T (p.Asn2061Ile)
c.6029A>T (p.Asn2010Ile)
c.5816A>T (p.Asn1939Ile)
c.5996A>T (p.Asn1999Ile)
12g.80358708C>ACA385888734OTOGLc.6159C>A (p.Asn2053Lys)
c.99C>A (p.Asn33Lys)
c.6024C>A (p.Asn2008Lys)
c.1460C>A
c.6132C>A (p.Asn2044Lys)
n.415C>A
c.6096C>A (p.Asn2032Lys)
c.183C>A (p.Asn61Lys)
c.287C>A
c.6183C>A (p.Asn2061Lys)
c.6030C>A (p.Asn2010Lys)
c.5817C>A (p.Asn1939Lys)
c.5997C>A (p.Asn1999Lys)
12g.80358708C>GCA385888735OTOGLc.6159C>G (p.Asn2053Lys)
c.99C>G (p.Asn33Lys)
c.6024C>G (p.Asn2008Lys)
c.1460C>G
c.6132C>G (p.Asn2044Lys)
n.415C>G
c.6096C>G (p.Asn2032Lys)
c.183C>G (p.Asn61Lys)
c.287C>G
c.6183C>G (p.Asn2061Lys)
c.6030C>G (p.Asn2010Lys)
c.5817C>G (p.Asn1939Lys)
c.5997C>G (p.Asn1999Lys)
12g.80358708C>TCA480823202OTOGLc.6159C>T (p.Asn2053=)
c.99C>T (p.Asn33=)
c.6024C>T (p.Asn2008=)
c.1460C>T
c.6132C>T (p.Asn2044=)
n.415C>T
c.6096C>T (p.Asn2032=)
c.183C>T (p.Asn61=)
c.287C>T
c.6183C>T (p.Asn2061=)
c.6030C>T (p.Asn2010=)
c.5817C>T (p.Asn1939=)
c.5997C>T (p.Asn1999=)
12g.80358708_80358710delinsCTGCA2049208497OTOGLc.6159_6161delinsCTG (p.Asn2053=)
c.99_101delinsCTG (p.Asn33=)
c.6024_6026delinsCTG (p.Asn2008=)
c.1460_1462delinsCTG
c.6132_6134delinsCTG (p.Asn2044=)
n.415_417delinsCTG
c.6096_6098delinsCTG (p.Asn2032=)
c.183_185delinsCTG (p.Asn61=)
c.287_289delinsCTG
c.6183_6185delinsCTG (p.Asn2061=)
c.6030_6032delinsCTG (p.Asn2010=)
c.5817_5819delinsCTG (p.Asn1939=)
c.5997_5999delinsCTG (p.Asn1999=)
12g.80358709T>ACA385888738OTOGLc.6160T>A (p.Cys2054Ser)
c.100T>A (p.Cys34Ser)
c.6025T>A (p.Cys2009Ser)
c.1461T>A
c.6133T>A (p.Cys2045Ser)
n.416T>A
c.6097T>A (p.Cys2033Ser)
c.184T>A (p.Cys62Ser)
c.288T>A
c.6184T>A (p.Cys2062Ser)
c.6031T>A (p.Cys2011Ser)
c.5818T>A (p.Cys1940Ser)
c.5998T>A (p.Cys2000Ser)
12g.80358709T>CCA385888737OTOGLc.6160T>C (p.Cys2054Arg)
c.100T>C (p.Cys34Arg)
c.6025T>C (p.Cys2009Arg)
c.1461T>C
c.6133T>C (p.Cys2045Arg)
n.416T>C
c.6097T>C (p.Cys2033Arg)
c.184T>C (p.Cys62Arg)
c.288T>C
c.6184T>C (p.Cys2062Arg)
c.6031T>C (p.Cys2011Arg)
c.5818T>C (p.Cys1940Arg)
c.5998T>C (p.Cys2000Arg)
 gnomAD v4
12g.80358709T>GCA385888736OTOGLc.6160T>G (p.Cys2054Gly)
c.100T>G (p.Cys34Gly)
c.6025T>G (p.Cys2009Gly)
c.1461T>G
c.6133T>G (p.Cys2045Gly)
n.416T>G
c.6097T>G (p.Cys2033Gly)
c.184T>G (p.Cys62Gly)
c.288T>G
c.6184T>G (p.Cys2062Gly)
c.6031T>G (p.Cys2011Gly)
c.5818T>G (p.Cys1940Gly)
c.5998T>G (p.Cys2000Gly)
12g.80358711_80358712delCA6701933OTOGLc.6162_6163del (p.Ala2055ArgfsTer21)
c.102_103del (p.Ala35ArgfsTer21)
c.6027_6028del (p.Ala2010ArgfsTer21)
c.1463_1464del
c.6135_6136del (p.Ala2046ArgfsTer21)
n.418_419del
c.6099_6100del (p.Ala2034ArgfsTer21)
c.186_187del (p.Ala63ArgfsTer21)
c.290_291del
c.6186_6187del (p.Ala2063ArgfsTer21)
c.6033_6034del (p.Ala2012ArgfsTer21)
c.5820_5821del (p.Ala1941ArgfsTer21)
c.6000_6001del (p.Ala2001ArgfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358710delCA2620017098OTOGLc.6161del (p.Cys2054LeufsTer5)
c.101del (p.Cys34LeufsTer5)
c.6026del (p.Cys2009LeufsTer5)
c.1462del
c.6134del (p.Cys2045LeufsTer5)
n.417del
c.6098del (p.Cys2033LeufsTer5)
c.185del (p.Cys62LeufsTer5)
c.289del
c.6185del (p.Cys2062LeufsTer5)
c.6032del (p.Cys2011LeufsTer5)
c.5819del (p.Cys1940LeufsTer5)
c.5999del (p.Cys2000LeufsTer5)
 gnomAD v4
12g.80358710G>ACA385888739OTOGLc.6161G>A (p.Cys2054Tyr)
c.101G>A (p.Cys34Tyr)
c.6026G>A (p.Cys2009Tyr)
c.1462G>A
c.6134G>A (p.Cys2045Tyr)
n.417G>A
c.6098G>A (p.Cys2033Tyr)
c.185G>A (p.Cys62Tyr)
c.289G>A
c.6185G>A (p.Cys2062Tyr)
c.6032G>A (p.Cys2011Tyr)
c.5819G>A (p.Cys1940Tyr)
c.5999G>A (p.Cys2000Tyr)
 ClinVar dbSNP
12g.80358710G>CCA385888740OTOGLc.6161G>C (p.Cys2054Ser)
c.101G>C (p.Cys34Ser)
c.6026G>C (p.Cys2009Ser)
c.1462G>C
c.6134G>C (p.Cys2045Ser)
n.417G>C
c.6098G>C (p.Cys2033Ser)
c.185G>C (p.Cys62Ser)
c.289G>C
c.6185G>C (p.Cys2062Ser)
c.6032G>C (p.Cys2011Ser)
c.5819G>C (p.Cys1940Ser)
c.5999G>C (p.Cys2000Ser)
12g.80358710G=CA2049208498OTOGLc.6161G= (p.Cys2054=)
c.101G= (p.Cys34=)
c.6026G= (p.Cys2009=)
c.1462G=
c.6134G= (p.Cys2045=)
n.417G=
c.6098G= (p.Cys2033=)
c.185G= (p.Cys62=)
c.289G=
c.6185G= (p.Cys2062=)
c.6032G= (p.Cys2011=)
c.5819G= (p.Cys1940=)
c.5999G= (p.Cys2000=)
12g.80358710G>TCA240239674OTOGLc.6161G>T (p.Cys2054Phe)
c.101G>T (p.Cys34Phe)
c.6026G>T (p.Cys2009Phe)
c.1462G>T
c.6134G>T (p.Cys2045Phe)
n.417G>T
c.6098G>T (p.Cys2033Phe)
c.185G>T (p.Cys62Phe)
c.289G>T
c.6185G>T (p.Cys2062Phe)
c.6032G>T (p.Cys2011Phe)
c.5819G>T (p.Cys1940Phe)
c.5999G>T (p.Cys2000Phe)
 dbSNP gnomAD v4
12g.80358711T>ACA385888741OTOGLc.6162T>A (p.Cys2054Ter)
c.102T>A (p.Cys34Ter)
c.6027T>A (p.Cys2009Ter)
c.1463T>A
c.6135T>A (p.Cys2045Ter)
n.418T>A
c.6099T>A (p.Cys2033Ter)
c.186T>A (p.Cys62Ter)
c.290T>A
c.6186T>A (p.Cys2062Ter)
c.6033T>A (p.Cys2011Ter)
c.5820T>A (p.Cys1940Ter)
c.6000T>A (p.Cys2000Ter)
12g.80358711T>CCA480823221OTOGLc.6162T>C (p.Cys2054=)
c.102T>C (p.Cys34=)
c.6027T>C (p.Cys2009=)
c.1463T>C
c.6135T>C (p.Cys2045=)
n.418T>C
c.6099T>C (p.Cys2033=)
c.186T>C (p.Cys62=)
c.290T>C
c.6186T>C (p.Cys2062=)
c.6033T>C (p.Cys2011=)
c.5820T>C (p.Cys1940=)
c.6000T>C (p.Cys2000=)
12g.80358711T>GCA385888742OTOGLc.6162T>G (p.Cys2054Trp)
c.102T>G (p.Cys34Trp)
c.6027T>G (p.Cys2009Trp)
c.1463T>G
c.6135T>G (p.Cys2045Trp)
n.418T>G
c.6099T>G (p.Cys2033Trp)
c.186T>G (p.Cys62Trp)
c.290T>G
c.6186T>G (p.Cys2062Trp)
c.6033T>G (p.Cys2011Trp)
c.5820T>G (p.Cys1940Trp)
c.6000T>G (p.Cys2000Trp)
12g.80358712G>ACA385888743OTOGLc.6163G>A (p.Ala2055Thr)
c.103G>A (p.Ala35Thr)
c.6028G>A (p.Ala2010Thr)
c.1464G>A
c.6136G>A (p.Ala2046Thr)
n.419G>A
c.6100G>A (p.Ala2034Thr)
c.187G>A (p.Ala63Thr)
c.291G>A
c.6187G>A (p.Ala2063Thr)
c.6034G>A (p.Ala2012Thr)
c.5821G>A (p.Ala1941Thr)
c.6001G>A (p.Ala2001Thr)
12g.80358712G>CCA385888744OTOGLc.6163G>C (p.Ala2055Pro)
c.103G>C (p.Ala35Pro)
c.6028G>C (p.Ala2010Pro)
c.1464G>C
c.6136G>C (p.Ala2046Pro)
n.419G>C
c.6100G>C (p.Ala2034Pro)
c.187G>C (p.Ala63Pro)
c.291G>C
c.6187G>C (p.Ala2063Pro)
c.6034G>C (p.Ala2012Pro)
c.5821G>C (p.Ala1941Pro)
c.6001G>C (p.Ala2001Pro)
12g.80358712G>TCA385888745OTOGLc.6163G>T (p.Ala2055Ser)
c.103G>T (p.Ala35Ser)
c.6028G>T (p.Ala2010Ser)
c.1464G>T
c.6136G>T (p.Ala2046Ser)
n.419G>T
c.6100G>T (p.Ala2034Ser)
c.187G>T (p.Ala63Ser)
c.291G>T
c.6187G>T (p.Ala2063Ser)
c.6034G>T (p.Ala2012Ser)
c.5821G>T (p.Ala1941Ser)
c.6001G>T (p.Ala2001Ser)
12g.80358713C>ACA240239692OTOGLc.6164C>A (p.Ala2055Glu)
c.104C>A (p.Ala35Glu)
c.6029C>A (p.Ala2010Glu)
c.1465C>A
c.6137C>A (p.Ala2046Glu)
n.420C>A
c.6101C>A (p.Ala2034Glu)
c.188C>A (p.Ala63Glu)
c.292C>A
c.6188C>A (p.Ala2063Glu)
c.6035C>A (p.Ala2012Glu)
c.5822C>A (p.Ala1941Glu)
c.6002C>A (p.Ala2001Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358713C=CA2049208499OTOGLc.6164C= (p.Ala2055=)
c.104C= (p.Ala35=)
c.6029C= (p.Ala2010=)
c.1465C=
c.6137C= (p.Ala2046=)
n.420C=
c.6101C= (p.Ala2034=)
c.188C= (p.Ala63=)
c.292C=
c.6188C= (p.Ala2063=)
c.6035C= (p.Ala2012=)
c.5822C= (p.Ala1941=)
c.6002C= (p.Ala2001=)
12g.80358713C>GCA385888746OTOGLc.6164C>G (p.Ala2055Gly)
c.104C>G (p.Ala35Gly)
c.6029C>G (p.Ala2010Gly)
c.1465C>G
c.6137C>G (p.Ala2046Gly)
n.420C>G
c.6101C>G (p.Ala2034Gly)
c.188C>G (p.Ala63Gly)
c.292C>G
c.6188C>G (p.Ala2063Gly)
c.6035C>G (p.Ala2012Gly)
c.5822C>G (p.Ala1941Gly)
c.6002C>G (p.Ala2001Gly)
12g.80358713C>TCA385888747OTOGLc.6164C>T (p.Ala2055Val)
c.104C>T (p.Ala35Val)
c.6029C>T (p.Ala2010Val)
c.1465C>T
c.6137C>T (p.Ala2046Val)
n.420C>T
c.6101C>T (p.Ala2034Val)
c.188C>T (p.Ala63Val)
c.292C>T
c.6188C>T (p.Ala2063Val)
c.6035C>T (p.Ala2012Val)
c.5822C>T (p.Ala1941Val)
c.6002C>T (p.Ala2001Val)
12g.80358714A=CA2049208500OTOGLc.6165A= (p.Ala2055=)
c.105A= (p.Ala35=)
c.6030A= (p.Ala2010=)
c.1466A=
c.6138A= (p.Ala2046=)
n.421A=
c.6102A= (p.Ala2034=)
c.189A= (p.Ala63=)
c.293A=
c.6189A= (p.Ala2063=)
c.6036A= (p.Ala2012=)
c.5823A= (p.Ala1941=)
c.6003A= (p.Ala2001=)
12g.80358714A>CCA480823237OTOGLc.6165A>C (p.Ala2055=)
c.105A>C (p.Ala35=)
c.6030A>C (p.Ala2010=)
c.1466A>C
c.6138A>C (p.Ala2046=)
n.421A>C
c.6102A>C (p.Ala2034=)
c.189A>C (p.Ala63=)
c.293A>C
c.6189A>C (p.Ala2063=)
c.6036A>C (p.Ala2012=)
c.5823A>C (p.Ala1941=)
c.6003A>C (p.Ala2001=)
12g.80358714A>GCA6701934OTOGLc.6165A>G (p.Ala2055=)
c.105A>G (p.Ala35=)
c.6030A>G (p.Ala2010=)
c.1466A>G
c.6138A>G (p.Ala2046=)
n.421A>G
c.6102A>G (p.Ala2034=)
c.189A>G (p.Ala63=)
c.293A>G
c.6189A>G (p.Ala2063=)
c.6036A>G (p.Ala2012=)
c.5823A>G (p.Ala1941=)
c.6003A>G (p.Ala2001=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358714A>TCA480823241OTOGLc.6165A>T (p.Ala2055=)
c.105A>T (p.Ala35=)
c.6030A>T (p.Ala2010=)
c.1466A>T
c.6138A>T (p.Ala2046=)
n.421A>T
c.6102A>T (p.Ala2034=)
c.189A>T (p.Ala63=)
c.293A>T
c.6189A>T (p.Ala2063=)
c.6036A>T (p.Ala2012=)
c.5823A>T (p.Ala1941=)
c.6003A>T (p.Ala2001=)
12g.80358715G>ACA385888750OTOGLc.6166G>A (p.Glu2056Lys)
c.106G>A (p.Glu36Lys)
c.6031G>A (p.Glu2011Lys)
c.1467G>A
c.6139G>A (p.Glu2047Lys)
n.422G>A
c.6103G>A (p.Glu2035Lys)
c.190G>A (p.Glu64Lys)
c.294G>A
c.6190G>A (p.Glu2064Lys)
c.6037G>A (p.Glu2013Lys)
c.5824G>A (p.Glu1942Lys)
c.6004G>A (p.Glu2002Lys)
 COSMIC COSMIC
12g.80358715G>CCA385888749OTOGLc.6166G>C (p.Glu2056Gln)
c.106G>C (p.Glu36Gln)
c.6031G>C (p.Glu2011Gln)
c.1467G>C
c.6139G>C (p.Glu2047Gln)
n.422G>C
c.6103G>C (p.Glu2035Gln)
c.190G>C (p.Glu64Gln)
c.294G>C
c.6190G>C (p.Glu2064Gln)
c.6037G>C (p.Glu2013Gln)
c.5824G>C (p.Glu1942Gln)
c.6004G>C (p.Glu2002Gln)
12g.80358715G>TCA385888748OTOGLc.6166G>T (p.Glu2056Ter)
c.106G>T (p.Glu36Ter)
c.6031G>T (p.Glu2011Ter)
c.1467G>T
c.6139G>T (p.Glu2047Ter)
n.422G>T
c.6103G>T (p.Glu2035Ter)
c.190G>T (p.Glu64Ter)
c.294G>T
c.6190G>T (p.Glu2064Ter)
c.6037G>T (p.Glu2013Ter)
c.5824G>T (p.Glu1942Ter)
c.6004G>T (p.Glu2002Ter)
12g.80358716A>CCA385888751OTOGLc.6167A>C (p.Glu2056Ala)
c.107A>C (p.Glu36Ala)
c.6032A>C (p.Glu2011Ala)
c.1468A>C
c.6140A>C (p.Glu2047Ala)
n.423A>C
c.6104A>C (p.Glu2035Ala)
c.191A>C (p.Glu64Ala)
c.295A>C
c.6191A>C (p.Glu2064Ala)
c.6038A>C (p.Glu2013Ala)
c.5825A>C (p.Glu1942Ala)
c.6005A>C (p.Glu2002Ala)
12g.80358716A>GCA385888752OTOGLc.6167A>G (p.Glu2056Gly)
c.107A>G (p.Glu36Gly)
c.6032A>G (p.Glu2011Gly)
c.1468A>G
c.6140A>G (p.Glu2047Gly)
n.423A>G
c.6104A>G (p.Glu2035Gly)
c.191A>G (p.Glu64Gly)
c.295A>G
c.6191A>G (p.Glu2064Gly)
c.6038A>G (p.Glu2013Gly)
c.5825A>G (p.Glu1942Gly)
c.6005A>G (p.Glu2002Gly)
12g.80358716A>TCA385888753OTOGLc.6167A>T (p.Glu2056Val)
c.107A>T (p.Glu36Val)
c.6032A>T (p.Glu2011Val)
c.1468A>T
c.6140A>T (p.Glu2047Val)
n.423A>T
c.6104A>T (p.Glu2035Val)
c.191A>T (p.Glu64Val)
c.295A>T
c.6191A>T (p.Glu2064Val)
c.6038A>T (p.Glu2013Val)
c.5825A>T (p.Glu1942Val)
c.6005A>T (p.Glu2002Val)
12g.80358717A>CCA385888754OTOGLc.6168A>C (p.Glu2056Asp)
c.108A>C (p.Glu36Asp)
c.6033A>C (p.Glu2011Asp)
c.1469A>C
c.6141A>C (p.Glu2047Asp)
n.424A>C
c.6105A>C (p.Glu2035Asp)
c.192A>C (p.Glu64Asp)
c.296A>C
c.6192A>C (p.Glu2064Asp)
c.6039A>C (p.Glu2013Asp)
c.5826A>C (p.Glu1942Asp)
c.6006A>C (p.Glu2002Asp)
12g.80358717A>GCA480823253OTOGLc.6168A>G (p.Glu2056=)
c.108A>G (p.Glu36=)
c.6033A>G (p.Glu2011=)
c.1469A>G
c.6141A>G (p.Glu2047=)
n.424A>G
c.6105A>G (p.Glu2035=)
c.192A>G (p.Glu64=)
c.296A>G
c.6192A>G (p.Glu2064=)
c.6039A>G (p.Glu2013=)
c.5826A>G (p.Glu1942=)
c.6006A>G (p.Glu2002=)
12g.80358717A>TCA385888755OTOGLc.6168A>T (p.Glu2056Asp)
c.108A>T (p.Glu36Asp)
c.6033A>T (p.Glu2011Asp)
c.1469A>T
c.6141A>T (p.Glu2047Asp)
n.424A>T
c.6105A>T (p.Glu2035Asp)
c.192A>T (p.Glu64Asp)
c.296A>T
c.6192A>T (p.Glu2064Asp)
c.6039A>T (p.Glu2013Asp)
c.5826A>T (p.Glu1942Asp)
c.6006A>T (p.Glu2002Asp)
12g.80358718G>ACA385888756OTOGLc.6169G>A (p.Asp2057Asn)
c.109G>A (p.Asp37Asn)
c.6034G>A (p.Asp2012Asn)
c.1470G>A
c.6142G>A (p.Asp2048Asn)
n.425G>A
c.6106G>A (p.Asp2036Asn)
c.193G>A (p.Asp65Asn)
c.297G>A
c.6193G>A (p.Asp2065Asn)
c.6040G>A (p.Asp2014Asn)
c.5827G>A (p.Asp1943Asn)
c.6007G>A (p.Asp2003Asn)
 COSMIC COSMIC
12g.80358718G>CCA385888757OTOGLc.6169G>C (p.Asp2057His)
c.109G>C (p.Asp37His)
c.6034G>C (p.Asp2012His)
c.1470G>C
c.6142G>C (p.Asp2048His)
n.425G>C
c.6106G>C (p.Asp2036His)
c.193G>C (p.Asp65His)
c.297G>C
c.6193G>C (p.Asp2065His)
c.6040G>C (p.Asp2014His)
c.5827G>C (p.Asp1943His)
c.6007G>C (p.Asp2003His)
12g.80358718G>TCA385888758OTOGLc.6169G>T (p.Asp2057Tyr)
c.109G>T (p.Asp37Tyr)
c.6034G>T (p.Asp2012Tyr)
c.1470G>T
c.6142G>T (p.Asp2048Tyr)
n.425G>T
c.6106G>T (p.Asp2036Tyr)
c.193G>T (p.Asp65Tyr)
c.297G>T
c.6193G>T (p.Asp2065Tyr)
c.6040G>T (p.Asp2014Tyr)
c.5827G>T (p.Asp1943Tyr)
c.6007G>T (p.Asp2003Tyr)
12g.80358719A>CCA385888759OTOGLc.6170A>C (p.Asp2057Ala)
c.110A>C (p.Asp37Ala)
c.6035A>C (p.Asp2012Ala)
c.1471A>C
c.6143A>C (p.Asp2048Ala)
n.426A>C
c.6107A>C (p.Asp2036Ala)
c.194A>C (p.Asp65Ala)
c.298A>C
c.6194A>C (p.Asp2065Ala)
c.6041A>C (p.Asp2014Ala)
c.5828A>C (p.Asp1943Ala)
c.6008A>C (p.Asp2003Ala)
12g.80358719A>GCA385888760OTOGLc.6170A>G (p.Asp2057Gly)
c.110A>G (p.Asp37Gly)
c.6035A>G (p.Asp2012Gly)
c.1471A>G
c.6143A>G (p.Asp2048Gly)
n.426A>G
c.6107A>G (p.Asp2036Gly)
c.194A>G (p.Asp65Gly)
c.298A>G
c.6194A>G (p.Asp2065Gly)
c.6041A>G (p.Asp2014Gly)
c.5828A>G (p.Asp1943Gly)
c.6008A>G (p.Asp2003Gly)
 gnomAD v4
12g.80358719A>TCA385888761OTOGLc.6170A>T (p.Asp2057Val)
c.110A>T (p.Asp37Val)
c.6035A>T (p.Asp2012Val)
c.1471A>T
c.6143A>T (p.Asp2048Val)
n.426A>T
c.6107A>T (p.Asp2036Val)
c.194A>T (p.Asp65Val)
c.298A>T
c.6194A>T (p.Asp2065Val)
c.6041A>T (p.Asp2014Val)
c.5828A>T (p.Asp1943Val)
c.6008A>T (p.Asp2003Val)
12g.80358720T>ACA385888762OTOGLc.6171T>A (p.Asp2057Glu)
c.111T>A (p.Asp37Glu)
c.6036T>A (p.Asp2012Glu)
c.1472T>A
c.6144T>A (p.Asp2048Glu)
n.427T>A
c.6108T>A (p.Asp2036Glu)
c.195T>A (p.Asp65Glu)
c.299T>A
c.6195T>A (p.Asp2065Glu)
c.6042T>A (p.Asp2014Glu)
c.5829T>A (p.Asp1943Glu)
c.6009T>A (p.Asp2003Glu)
 dbSNP
12g.80358720T>CCA480823269OTOGLc.6171T>C (p.Asp2057=)
c.111T>C (p.Asp37=)
c.6036T>C (p.Asp2012=)
c.1472T>C
c.6144T>C (p.Asp2048=)
n.427T>C
c.6108T>C (p.Asp2036=)
c.195T>C (p.Asp65=)
c.299T>C
c.6195T>C (p.Asp2065=)
c.6042T>C (p.Asp2014=)
c.5829T>C (p.Asp1943=)
c.6009T>C (p.Asp2003=)
12g.80358720T>GCA385888763OTOGLc.6171T>G (p.Asp2057Glu)
c.111T>G (p.Asp37Glu)
c.6036T>G (p.Asp2012Glu)
c.1472T>G
c.6144T>G (p.Asp2048Glu)
n.427T>G
c.6108T>G (p.Asp2036Glu)
c.195T>G (p.Asp65Glu)
c.299T>G
c.6195T>G (p.Asp2065Glu)
c.6042T>G (p.Asp2014Glu)
c.5829T>G (p.Asp1943Glu)
c.6009T>G (p.Asp2003Glu)
12g.80358720T=CA2049208501OTOGLc.6171T= (p.Asp2057=)
c.111T= (p.Asp37=)
c.6036T= (p.Asp2012=)
c.1472T=
c.6144T= (p.Asp2048=)
n.427T=
c.6108T= (p.Asp2036=)
c.195T= (p.Asp65=)
c.299T=
c.6195T= (p.Asp2065=)
c.6042T= (p.Asp2014=)
c.5829T= (p.Asp1943=)
c.6009T= (p.Asp2003=)
12g.80358721A=CA2049208502OTOGLc.6172A= (p.Met2058=)
c.112A= (p.Met38=)
c.6037A= (p.Met2013=)
c.1473A=
c.6145A= (p.Met2049=)
n.428A=
c.6109A= (p.Met2037=)
c.196A= (p.Met66=)
c.300A=
c.6196A= (p.Met2066=)
c.6043A= (p.Met2015=)
c.5830A= (p.Met1944=)
c.6010A= (p.Met2004=)
12g.80358721A>CCA385888766OTOGLc.6172A>C (p.Met2058Leu)
c.112A>C (p.Met38Leu)
c.6037A>C (p.Met2013Leu)
c.1473A>C
c.6145A>C (p.Met2049Leu)
n.428A>C
c.6109A>C (p.Met2037Leu)
c.196A>C (p.Met66Leu)
c.300A>C
c.6196A>C (p.Met2066Leu)
c.6043A>C (p.Met2015Leu)
c.5830A>C (p.Met1944Leu)
c.6010A>C (p.Met2004Leu)
12g.80358721A>GCA385888765OTOGLc.6172A>G (p.Met2058Val)
c.112A>G (p.Met38Val)
c.6037A>G (p.Met2013Val)
c.1473A>G
c.6145A>G (p.Met2049Val)
n.428A>G
c.6109A>G (p.Met2037Val)
c.196A>G (p.Met66Val)
c.300A>G
c.6196A>G (p.Met2066Val)
c.6043A>G (p.Met2015Val)
c.5830A>G (p.Met1944Val)
c.6010A>G (p.Met2004Val)
 dbSNP gnomAD v2 gnomAD v4
12g.80358721A>TCA385888764OTOGLc.6172A>T (p.Met2058Leu)
c.112A>T (p.Met38Leu)
c.6037A>T (p.Met2013Leu)
c.1473A>T
c.6145A>T (p.Met2049Leu)
n.428A>T
c.6109A>T (p.Met2037Leu)
c.196A>T (p.Met66Leu)
c.300A>T
c.6196A>T (p.Met2066Leu)
c.6043A>T (p.Met2015Leu)
c.5830A>T (p.Met1944Leu)
c.6010A>T (p.Met2004Leu)
12g.80358722T>ACA385888767OTOGLc.6173T>A (p.Met2058Lys)
c.113T>A (p.Met38Lys)
c.6038T>A (p.Met2013Lys)
c.1474T>A
c.6146T>A (p.Met2049Lys)
n.429T>A
c.6110T>A (p.Met2037Lys)
c.197T>A (p.Met66Lys)
c.301T>A
c.6197T>A (p.Met2066Lys)
c.6044T>A (p.Met2015Lys)
c.5831T>A (p.Met1944Lys)
c.6011T>A (p.Met2004Lys)
12g.80358722T>CCA6701935OTOGLc.6173T>C (p.Met2058Thr)
c.113T>C (p.Met38Thr)
c.6038T>C (p.Met2013Thr)
c.1474T>C
c.6146T>C (p.Met2049Thr)
n.429T>C
c.6110T>C (p.Met2037Thr)
c.197T>C (p.Met66Thr)
c.301T>C
c.6197T>C (p.Met2066Thr)
c.6044T>C (p.Met2015Thr)
c.5831T>C (p.Met1944Thr)
c.6011T>C (p.Met2004Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358722T>GCA385888768OTOGLc.6173T>G (p.Met2058Arg)
c.113T>G (p.Met38Arg)
c.6038T>G (p.Met2013Arg)
c.1474T>G
c.6146T>G (p.Met2049Arg)
n.429T>G
c.6110T>G (p.Met2037Arg)
c.197T>G (p.Met66Arg)
c.301T>G
c.6197T>G (p.Met2066Arg)
c.6044T>G (p.Met2015Arg)
c.5831T>G (p.Met1944Arg)
c.6011T>G (p.Met2004Arg)
12g.80358722T=CA2049208503OTOGLc.6173T= (p.Met2058=)
c.113T= (p.Met38=)
c.6038T= (p.Met2013=)
c.1474T=
c.6146T= (p.Met2049=)
n.429T=
c.6110T= (p.Met2037=)
c.197T= (p.Met66=)
c.301T=
c.6197T= (p.Met2066=)
c.6044T= (p.Met2015=)
c.5831T= (p.Met1944=)
c.6011T= (p.Met2004=)
12g.80358723G>ACA385888769OTOGLc.6174G>A (p.Met2058Ile)
c.114G>A (p.Met38Ile)
c.6039G>A (p.Met2013Ile)
c.1475G>A
c.6147G>A (p.Met2049Ile)
n.430G>A
c.6111G>A (p.Met2037Ile)
c.198G>A (p.Met66Ile)
c.302G>A
c.6198G>A (p.Met2066Ile)
c.6045G>A (p.Met2015Ile)
c.5832G>A (p.Met1944Ile)
c.6012G>A (p.Met2004Ile)
12g.80358723G>CCA385888770OTOGLc.6174G>C (p.Met2058Ile)
c.114G>C (p.Met38Ile)
c.6039G>C (p.Met2013Ile)
c.1475G>C
c.6147G>C (p.Met2049Ile)
n.430G>C
c.6111G>C (p.Met2037Ile)
c.198G>C (p.Met66Ile)
c.302G>C
c.6198G>C (p.Met2066Ile)
c.6045G>C (p.Met2015Ile)
c.5832G>C (p.Met1944Ile)
c.6012G>C (p.Met2004Ile)
12g.80358723G>TCA385888771OTOGLc.6174G>T (p.Met2058Ile)
c.114G>T (p.Met38Ile)
c.6039G>T (p.Met2013Ile)
c.1475G>T
c.6147G>T (p.Met2049Ile)
n.430G>T
c.6111G>T (p.Met2037Ile)
c.198G>T (p.Met66Ile)
c.302G>T
c.6198G>T (p.Met2066Ile)
c.6045G>T (p.Met2015Ile)
c.5832G>T (p.Met1944Ile)
c.6012G>T (p.Met2004Ile)
12g.80358724A=CA2049208504OTOGLc.6175A= (p.Asn2059=)
c.115A= (p.Asn39=)
c.6040A= (p.Asn2014=)
c.1476A=
c.6148A= (p.Asn2050=)
n.431A=
c.6112A= (p.Asn2038=)
c.199A= (p.Asn67=)
c.303A=
c.6199A= (p.Asn2067=)
c.6046A= (p.Asn2016=)
c.5833A= (p.Asn1945=)
c.6013A= (p.Asn2005=)
12g.80358724A>CCA385888772OTOGLc.6175A>C (p.Asn2059His)
c.115A>C (p.Asn39His)
c.6040A>C (p.Asn2014His)
c.1476A>C
c.6148A>C (p.Asn2050His)
n.431A>C
c.6112A>C (p.Asn2038His)
c.199A>C (p.Asn67His)
c.303A>C
c.6199A>C (p.Asn2067His)
c.6046A>C (p.Asn2016His)
c.5833A>C (p.Asn1945His)
c.6013A>C (p.Asn2005His)
12g.80358724A>GCA240239694OTOGLc.6175A>G (p.Asn2059Asp)
c.115A>G (p.Asn39Asp)
c.6040A>G (p.Asn2014Asp)
c.1476A>G
c.6148A>G (p.Asn2050Asp)
n.431A>G
c.6112A>G (p.Asn2038Asp)
c.199A>G (p.Asn67Asp)
c.303A>G
c.6199A>G (p.Asn2067Asp)
c.6046A>G (p.Asn2016Asp)
c.5833A>G (p.Asn1945Asp)
c.6013A>G (p.Asn2005Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358724A>TCA385888773OTOGLc.6175A>T (p.Asn2059Tyr)
c.115A>T (p.Asn39Tyr)
c.6040A>T (p.Asn2014Tyr)
c.1476A>T
c.6148A>T (p.Asn2050Tyr)
n.431A>T
c.6112A>T (p.Asn2038Tyr)
c.199A>T (p.Asn67Tyr)
c.303A>T
c.6199A>T (p.Asn2067Tyr)
c.6046A>T (p.Asn2016Tyr)
c.5833A>T (p.Asn1945Tyr)
c.6013A>T (p.Asn2005Tyr)
12g.80358725A>CCA385888774OTOGLc.6176A>C (p.Asn2059Thr)
c.116A>C (p.Asn39Thr)
c.6041A>C (p.Asn2014Thr)
c.1477A>C
c.6149A>C (p.Asn2050Thr)
n.432A>C
c.6113A>C (p.Asn2038Thr)
c.200A>C (p.Asn67Thr)
c.304A>C
c.6200A>C (p.Asn2067Thr)
c.6047A>C (p.Asn2016Thr)
c.5834A>C (p.Asn1945Thr)
c.6014A>C (p.Asn2005Thr)
12g.80358725A>GCA385888775OTOGLc.6176A>G (p.Asn2059Ser)
c.116A>G (p.Asn39Ser)
c.6041A>G (p.Asn2014Ser)
c.1477A>G
c.6149A>G (p.Asn2050Ser)
n.432A>G
c.6113A>G (p.Asn2038Ser)
c.200A>G (p.Asn67Ser)
c.304A>G
c.6200A>G (p.Asn2067Ser)
c.6047A>G (p.Asn2016Ser)
c.5834A>G (p.Asn1945Ser)
c.6014A>G (p.Asn2005Ser)
12g.80358725A>TCA385888776OTOGLc.6176A>T (p.Asn2059Ile)
c.116A>T (p.Asn39Ile)
c.6041A>T (p.Asn2014Ile)
c.1477A>T
c.6149A>T (p.Asn2050Ile)
n.432A>T
c.6113A>T (p.Asn2038Ile)
c.200A>T (p.Asn67Ile)
c.304A>T
c.6200A>T (p.Asn2067Ile)
c.6047A>T (p.Asn2016Ile)
c.5834A>T (p.Asn1945Ile)
c.6014A>T (p.Asn2005Ile)
12g.80358726T>ACA385888777OTOGLc.6177T>A (p.Asn2059Lys)
c.117T>A (p.Asn39Lys)
c.6042T>A (p.Asn2014Lys)
c.1478T>A
c.6150T>A (p.Asn2050Lys)
n.433T>A
c.6114T>A (p.Asn2038Lys)
c.201T>A (p.Asn67Lys)
c.305T>A
c.6201T>A (p.Asn2067Lys)
c.6048T>A (p.Asn2016Lys)
c.5835T>A (p.Asn1945Lys)
c.6015T>A (p.Asn2005Lys)
12g.80358726T>CCA480823299OTOGLc.6177T>C (p.Asn2059=)
c.117T>C (p.Asn39=)
c.6042T>C (p.Asn2014=)
c.1478T>C
c.6150T>C (p.Asn2050=)
n.433T>C
c.6114T>C (p.Asn2038=)
c.201T>C (p.Asn67=)
c.305T>C
c.6201T>C (p.Asn2067=)
c.6048T>C (p.Asn2016=)
c.5835T>C (p.Asn1945=)
c.6015T>C (p.Asn2005=)
 gnomAD v4
12g.80358726T>GCA385888778OTOGLc.6177T>G (p.Asn2059Lys)
c.117T>G (p.Asn39Lys)
c.6042T>G (p.Asn2014Lys)
c.1478T>G
c.6150T>G (p.Asn2050Lys)
n.433T>G
c.6114T>G (p.Asn2038Lys)
c.201T>G (p.Asn67Lys)
c.305T>G
c.6201T>G (p.Asn2067Lys)
c.6048T>G (p.Asn2016Lys)
c.5835T>G (p.Asn1945Lys)
c.6015T>G (p.Asn2005Lys)
12g.80358727C>ACA385888781OTOGLc.6178C>A (p.Leu2060Ile)
c.118C>A (p.Leu40Ile)
c.6043C>A (p.Leu2015Ile)
c.1479C>A
c.6151C>A (p.Leu2051Ile)
n.434C>A
c.6115C>A (p.Leu2039Ile)
c.202C>A (p.Leu68Ile)
c.306C>A
c.6202C>A (p.Leu2068Ile)
c.6049C>A (p.Leu2017Ile)
c.5836C>A (p.Leu1946Ile)
c.6016C>A (p.Leu2006Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.80358727C=CA2049208505OTOGLc.6178C= (p.Leu2060=)
c.118C= (p.Leu40=)
c.6043C= (p.Leu2015=)
c.1479C=
c.6151C= (p.Leu2051=)
n.434C=
c.6115C= (p.Leu2039=)
c.202C= (p.Leu68=)
c.306C=
c.6202C= (p.Leu2068=)
c.6049C= (p.Leu2017=)
c.5836C= (p.Leu1946=)
c.6016C= (p.Leu2006=)
12g.80358727C>GCA385888780OTOGLc.6178C>G (p.Leu2060Val)
c.118C>G (p.Leu40Val)
c.6043C>G (p.Leu2015Val)
c.1479C>G
c.6151C>G (p.Leu2051Val)
n.434C>G
c.6115C>G (p.Leu2039Val)
c.202C>G (p.Leu68Val)
c.306C>G
c.6202C>G (p.Leu2068Val)
c.6049C>G (p.Leu2017Val)
c.5836C>G (p.Leu1946Val)
c.6016C>G (p.Leu2006Val)
 dbSNP gnomAD v3 gnomAD v4
12g.80358727C>TCA385888779OTOGLc.6178C>T (p.Leu2060Phe)
c.118C>T (p.Leu40Phe)
c.6043C>T (p.Leu2015Phe)
c.1479C>T
c.6151C>T (p.Leu2051Phe)
n.434C>T
c.6115C>T (p.Leu2039Phe)
c.202C>T (p.Leu68Phe)
c.306C>T
c.6202C>T (p.Leu2068Phe)
c.6049C>T (p.Leu2017Phe)
c.5836C>T (p.Leu1946Phe)
c.6016C>T (p.Leu2006Phe)
12g.80358728T>ACA385888782OTOGLc.6179T>A (p.Leu2060His)
c.119T>A (p.Leu40His)
c.6044T>A (p.Leu2015His)
c.1480T>A
c.6152T>A (p.Leu2051His)
n.435T>A
c.6116T>A (p.Leu2039His)
c.203T>A (p.Leu68His)
c.307T>A
c.6203T>A (p.Leu2068His)
c.6050T>A (p.Leu2017His)
c.5837T>A (p.Leu1946His)
c.6017T>A (p.Leu2006His)
12g.80358728T>CCA385888783OTOGLc.6179T>C (p.Leu2060Pro)
c.119T>C (p.Leu40Pro)
c.6044T>C (p.Leu2015Pro)
c.1480T>C
c.6152T>C (p.Leu2051Pro)
n.435T>C
c.6116T>C (p.Leu2039Pro)
c.203T>C (p.Leu68Pro)
c.307T>C
c.6203T>C (p.Leu2068Pro)
c.6050T>C (p.Leu2017Pro)
c.5837T>C (p.Leu1946Pro)
c.6017T>C (p.Leu2006Pro)
12g.80358728T>GCA385888784OTOGLc.6179T>G (p.Leu2060Arg)
c.119T>G (p.Leu40Arg)
c.6044T>G (p.Leu2015Arg)
c.1480T>G
c.6152T>G (p.Leu2051Arg)
n.435T>G
c.6116T>G (p.Leu2039Arg)
c.203T>G (p.Leu68Arg)
c.307T>G
c.6203T>G (p.Leu2068Arg)
c.6050T>G (p.Leu2017Arg)
c.5837T>G (p.Leu1946Arg)
c.6017T>G (p.Leu2006Arg)
12g.80358729T>ACA480823315OTOGLc.6180T>A (p.Leu2060=)
c.120T>A (p.Leu40=)
c.6045T>A (p.Leu2015=)
c.1481T>A
c.6153T>A (p.Leu2051=)
n.436T>A
c.6117T>A (p.Leu2039=)
c.204T>A (p.Leu68=)
c.308T>A
c.6204T>A (p.Leu2068=)
c.6051T>A (p.Leu2017=)
c.5838T>A (p.Leu1946=)
c.6018T>A (p.Leu2006=)
12g.80358729T>CCA480823317OTOGLc.6180T>C (p.Leu2060=)
c.120T>C (p.Leu40=)
c.6045T>C (p.Leu2015=)
c.1481T>C
c.6153T>C (p.Leu2051=)
n.436T>C
c.6117T>C (p.Leu2039=)
c.204T>C (p.Leu68=)
c.308T>C
c.6204T>C (p.Leu2068=)
c.6051T>C (p.Leu2017=)
c.5838T>C (p.Leu1946=)
c.6018T>C (p.Leu2006=)
12g.80358729T>GCA480823320OTOGLc.6180T>G (p.Leu2060=)
c.120T>G (p.Leu40=)
c.6045T>G (p.Leu2015=)
c.1481T>G
c.6153T>G (p.Leu2051=)
n.436T>G
c.6117T>G (p.Leu2039=)
c.204T>G (p.Leu68=)
c.308T>G
c.6204T>G (p.Leu2068=)
c.6051T>G (p.Leu2017=)
c.5838T>G (p.Leu1946=)
c.6018T>G (p.Leu2006=)
12g.80358730G>ACA385888785OTOGLc.6181G>A (p.Val2061Met)
c.121G>A (p.Val41Met)
c.6046G>A (p.Val2016Met)
c.1482G>A
c.6154G>A (p.Val2052Met)
n.437G>A
c.6118G>A (p.Val2040Met)
c.205G>A (p.Val69Met)
c.309G>A
c.6205G>A (p.Val2069Met)
c.6052G>A (p.Val2018Met)
c.5839G>A (p.Val1947Met)
c.6019G>A (p.Val2007Met)
12g.80358730G>CCA385888786OTOGLc.6181G>C (p.Val2061Leu)
c.121G>C (p.Val41Leu)
c.6046G>C (p.Val2016Leu)
c.1482G>C
c.6154G>C (p.Val2052Leu)
n.437G>C
c.6118G>C (p.Val2040Leu)
c.205G>C (p.Val69Leu)
c.309G>C
c.6205G>C (p.Val2069Leu)
c.6052G>C (p.Val2018Leu)
c.5839G>C (p.Val1947Leu)
c.6019G>C (p.Val2007Leu)
12g.80358730G>TCA385888787OTOGLc.6181G>T (p.Val2061Leu)
c.121G>T (p.Val41Leu)
c.6046G>T (p.Val2016Leu)
c.1482G>T
c.6154G>T (p.Val2052Leu)
n.437G>T
c.6118G>T (p.Val2040Leu)
c.205G>T (p.Val69Leu)
c.309G>T
c.6205G>T (p.Val2069Leu)
c.6052G>T (p.Val2018Leu)
c.5839G>T (p.Val1947Leu)
c.6019G>T (p.Val2007Leu)
12g.80358731T>ACA385888788OTOGLc.6182T>A (p.Val2061Glu)
c.122T>A (p.Val41Glu)
c.6047T>A (p.Val2016Glu)
c.1483T>A
c.6155T>A (p.Val2052Glu)
n.438T>A
c.6119T>A (p.Val2040Glu)
c.206T>A (p.Val69Glu)
c.310T>A
c.6206T>A (p.Val2069Glu)
c.6053T>A (p.Val2018Glu)
c.5840T>A (p.Val1947Glu)
c.6020T>A (p.Val2007Glu)
12g.80358731T>CCA385888789OTOGLc.6182T>C (p.Val2061Ala)
c.122T>C (p.Val41Ala)
c.6047T>C (p.Val2016Ala)
c.1483T>C
c.6155T>C (p.Val2052Ala)
n.438T>C
c.6119T>C (p.Val2040Ala)
c.206T>C (p.Val69Ala)
c.310T>C
c.6206T>C (p.Val2069Ala)
c.6053T>C (p.Val2018Ala)
c.5840T>C (p.Val1947Ala)
c.6020T>C (p.Val2007Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.80358731T>GCA385888790OTOGLc.6182T>G (p.Val2061Gly)
c.122T>G (p.Val41Gly)
c.6047T>G (p.Val2016Gly)
c.1483T>G
c.6155T>G (p.Val2052Gly)
n.438T>G
c.6119T>G (p.Val2040Gly)
c.206T>G (p.Val69Gly)
c.310T>G
c.6206T>G (p.Val2069Gly)
c.6053T>G (p.Val2018Gly)
c.5840T>G (p.Val1947Gly)
c.6020T>G (p.Val2007Gly)
12g.80358731T=CA2049208506OTOGLc.6182T= (p.Val2061=)
c.122T= (p.Val41=)
c.6047T= (p.Val2016=)
c.1483T=
c.6155T= (p.Val2052=)
n.438T=
c.6119T= (p.Val2040=)
c.206T= (p.Val69=)
c.310T=
c.6206T= (p.Val2069=)
c.6053T= (p.Val2018=)
c.5840T= (p.Val1947=)
c.6020T= (p.Val2007=)
12g.80358732G>ACA480823336OTOGLc.6183G>A (p.Val2061=)
c.123G>A (p.Val41=)
c.6048G>A (p.Val2016=)
c.1484G>A
c.6156G>A (p.Val2052=)
n.439G>A
c.6120G>A (p.Val2040=)
c.207G>A (p.Val69=)
c.311G>A
c.6207G>A (p.Val2069=)
c.6054G>A (p.Val2018=)
c.5841G>A (p.Val1947=)
c.6021G>A (p.Val2007=)
 dbSNP
12g.80358732G>CCA480823339OTOGLc.6183G>C (p.Val2061=)
c.123G>C (p.Val41=)
c.6048G>C (p.Val2016=)
c.1484G>C
c.6156G>C (p.Val2052=)
n.439G>C
c.6120G>C (p.Val2040=)
c.207G>C (p.Val69=)
c.311G>C
c.6207G>C (p.Val2069=)
c.6054G>C (p.Val2018=)
c.5841G>C (p.Val1947=)
c.6021G>C (p.Val2007=)
12g.80358732G=CA2049208507OTOGLc.6183G= (p.Val2061=)
c.123G= (p.Val41=)
c.6048G= (p.Val2016=)
c.1484G=
c.6156G= (p.Val2052=)
n.439G=
c.6120G= (p.Val2040=)
c.207G= (p.Val69=)
c.311G=
c.6207G= (p.Val2069=)
c.6054G= (p.Val2018=)
c.5841G= (p.Val1947=)
c.6021G= (p.Val2007=)
12g.80358732G>TCA480823338OTOGLc.6183G>T (p.Val2061=)
c.123G>T (p.Val41=)
c.6048G>T (p.Val2016=)
c.1484G>T
c.6156G>T (p.Val2052=)
n.439G>T
c.6120G>T (p.Val2040=)
c.207G>T (p.Val69=)
c.311G>T
c.6207G>T (p.Val2069=)
c.6054G>T (p.Val2018=)
c.5841G>T (p.Val1947=)
c.6021G>T (p.Val2007=)
12g.80358733A>CCA385888791OTOGLc.6184A>C (p.Lys2062Gln)
c.124A>C (p.Lys42Gln)
c.6049A>C (p.Lys2017Gln)
c.1485A>C
c.6157A>C (p.Lys2053Gln)
n.440A>C
c.6121A>C (p.Lys2041Gln)
c.208A>C (p.Lys70Gln)
c.312A>C
c.6208A>C (p.Lys2070Gln)
c.6055A>C (p.Lys2019Gln)
c.5842A>C (p.Lys1948Gln)
c.6022A>C (p.Lys2008Gln)
12g.80358733A>GCA385888792OTOGLc.6184A>G (p.Lys2062Glu)
c.124A>G (p.Lys42Glu)
c.6049A>G (p.Lys2017Glu)
c.1485A>G
c.6157A>G (p.Lys2053Glu)
n.440A>G
c.6121A>G (p.Lys2041Glu)
c.208A>G (p.Lys70Glu)
c.312A>G
c.6208A>G (p.Lys2070Glu)
c.6055A>G (p.Lys2019Glu)
c.5842A>G (p.Lys1948Glu)
c.6022A>G (p.Lys2008Glu)
 gnomAD v4
12g.80358733A>TCA385888793OTOGLc.6184A>T (p.Lys2062Ter)
c.124A>T (p.Lys42Ter)
c.6049A>T (p.Lys2017Ter)
c.1485A>T
c.6157A>T (p.Lys2053Ter)
n.440A>T
c.6121A>T (p.Lys2041Ter)
c.208A>T (p.Lys70Ter)
c.312A>T
c.6208A>T (p.Lys2070Ter)
c.6055A>T (p.Lys2019Ter)
c.5842A>T (p.Lys1948Ter)
c.6022A>T (p.Lys2008Ter)
12g.80358734A>CCA385888796OTOGLc.6185A>C (p.Lys2062Thr)
c.125A>C (p.Lys42Thr)
c.6050A>C (p.Lys2017Thr)
c.1486A>C
c.6158A>C (p.Lys2053Thr)
n.441A>C
c.6122A>C (p.Lys2041Thr)
c.209A>C (p.Lys70Thr)
c.313A>C
c.6209A>C (p.Lys2070Thr)
c.6056A>C (p.Lys2019Thr)
c.5843A>C (p.Lys1948Thr)
c.6023A>C (p.Lys2008Thr)
12g.80358734A>GCA385888795OTOGLc.6185A>G (p.Lys2062Arg)
c.125A>G (p.Lys42Arg)
c.6050A>G (p.Lys2017Arg)
c.1486A>G
c.6158A>G (p.Lys2053Arg)
n.441A>G
c.6122A>G (p.Lys2041Arg)
c.209A>G (p.Lys70Arg)
c.313A>G
c.6209A>G (p.Lys2070Arg)
c.6056A>G (p.Lys2019Arg)
c.5843A>G (p.Lys1948Arg)
c.6023A>G (p.Lys2008Arg)
 gnomAD v4
12g.80358734A>TCA385888794OTOGLc.6185A>T (p.Lys2062Ile)
c.125A>T (p.Lys42Ile)
c.6050A>T (p.Lys2017Ile)
c.1486A>T
c.6158A>T (p.Lys2053Ile)
n.441A>T
c.6122A>T (p.Lys2041Ile)
c.209A>T (p.Lys70Ile)
c.313A>T
c.6209A>T (p.Lys2070Ile)
c.6056A>T (p.Lys2019Ile)
c.5843A>T (p.Lys1948Ile)
c.6023A>T (p.Lys2008Ile)
12g.80358735A=CA2049208508OTOGLc.6186A= (p.Lys2062=)
c.126A= (p.Lys42=)
c.6051A= (p.Lys2017=)
c.1487A=
c.6159A= (p.Lys2053=)
n.442A=
c.6123A= (p.Lys2041=)
c.210A= (p.Lys70=)
c.314A=
c.6210A= (p.Lys2070=)
c.6057A= (p.Lys2019=)
c.5844A= (p.Lys1948=)
c.6024A= (p.Lys2008=)
12g.80358735A>CCA385888797OTOGLc.6186A>C (p.Lys2062Asn)
c.126A>C (p.Lys42Asn)
c.6051A>C (p.Lys2017Asn)
c.1487A>C
c.6159A>C (p.Lys2053Asn)
n.442A>C
c.6123A>C (p.Lys2041Asn)
c.210A>C (p.Lys70Asn)
c.314A>C
c.6210A>C (p.Lys2070Asn)
c.6057A>C (p.Lys2019Asn)
c.5844A>C (p.Lys1948Asn)
c.6024A>C (p.Lys2008Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.80358735A>GCA480823352OTOGLc.6186A>G (p.Lys2062=)
c.126A>G (p.Lys42=)
c.6051A>G (p.Lys2017=)
c.1487A>G
c.6159A>G (p.Lys2053=)
n.442A>G
c.6123A>G (p.Lys2041=)
c.210A>G (p.Lys70=)
c.314A>G
c.6210A>G (p.Lys2070=)
c.6057A>G (p.Lys2019=)
c.5844A>G (p.Lys1948=)
c.6024A>G (p.Lys2008=)
 gnomAD v4
12g.80358735A>TCA385888798OTOGLc.6186A>T (p.Lys2062Asn)
c.126A>T (p.Lys42Asn)
c.6051A>T (p.Lys2017Asn)
c.1487A>T
c.6159A>T (p.Lys2053Asn)
n.442A>T
c.6123A>T (p.Lys2041Asn)
c.210A>T (p.Lys70Asn)
c.314A>T
c.6210A>T (p.Lys2070Asn)
c.6057A>T (p.Lys2019Asn)
c.5844A>T (p.Lys1948Asn)
c.6024A>T (p.Lys2008Asn)
 gnomAD v4
12g.80358736G>ACA385888799OTOGLc.6187G>A (p.Glu2063Lys)
c.127G>A (p.Glu43Lys)
c.6052G>A (p.Glu2018Lys)
c.1488G>A
c.6160G>A (p.Glu2054Lys)
n.443G>A
c.6124G>A (p.Glu2042Lys)
c.211G>A (p.Glu71Lys)
c.315G>A
c.6211G>A (p.Glu2071Lys)
c.6058G>A (p.Glu2020Lys)
c.5845G>A (p.Glu1949Lys)
c.6025G>A (p.Glu2009Lys)
12g.80358736G>CCA385888800OTOGLc.6187G>C (p.Glu2063Gln)
c.127G>C (p.Glu43Gln)
c.6052G>C (p.Glu2018Gln)
c.1488G>C
c.6160G>C (p.Glu2054Gln)
n.443G>C
c.6124G>C (p.Glu2042Gln)
c.211G>C (p.Glu71Gln)
c.315G>C
c.6211G>C (p.Glu2071Gln)
c.6058G>C (p.Glu2020Gln)
c.5845G>C (p.Glu1949Gln)
c.6025G>C (p.Glu2009Gln)
12g.80358736G>TCA385888801OTOGLc.6187G>T (p.Glu2063Ter)
c.127G>T (p.Glu43Ter)
c.6052G>T (p.Glu2018Ter)
c.1488G>T
c.6160G>T (p.Glu2054Ter)
n.443G>T
c.6124G>T (p.Glu2042Ter)
c.211G>T (p.Glu71Ter)
c.315G>T
c.6211G>T (p.Glu2071Ter)
c.6058G>T (p.Glu2020Ter)
c.5845G>T (p.Glu1949Ter)
c.6025G>T (p.Glu2009Ter)
12g.80358737A>CCA385888802OTOGLc.6188A>C (p.Glu2063Ala)
c.128A>C (p.Glu43Ala)
c.6053A>C (p.Glu2018Ala)
c.1489A>C
c.6161A>C (p.Glu2054Ala)
n.444A>C
c.6125A>C (p.Glu2042Ala)
c.212A>C (p.Glu71Ala)
c.316A>C
c.6212A>C (p.Glu2071Ala)
c.6059A>C (p.Glu2020Ala)
c.5846A>C (p.Glu1949Ala)
c.6026A>C (p.Glu2009Ala)
12g.80358737A>GCA385888803OTOGLc.6188A>G (p.Glu2063Gly)
c.128A>G (p.Glu43Gly)
c.6053A>G (p.Glu2018Gly)
c.1489A>G
c.6161A>G (p.Glu2054Gly)
n.444A>G
c.6125A>G (p.Glu2042Gly)
c.212A>G (p.Glu71Gly)
c.316A>G
c.6212A>G (p.Glu2071Gly)
c.6059A>G (p.Glu2020Gly)
c.5846A>G (p.Glu1949Gly)
c.6026A>G (p.Glu2009Gly)
12g.80358737A>TCA385888804OTOGLc.6188A>T (p.Glu2063Val)
c.128A>T (p.Glu43Val)
c.6053A>T (p.Glu2018Val)
c.1489A>T
c.6161A>T (p.Glu2054Val)
n.444A>T
c.6125A>T (p.Glu2042Val)
c.212A>T (p.Glu71Val)
c.316A>T
c.6212A>T (p.Glu2071Val)
c.6059A>T (p.Glu2020Val)
c.5846A>T (p.Glu1949Val)
c.6026A>T (p.Glu2009Val)
12g.80358738A>CCA385888805OTOGLc.6189A>C (p.Glu2063Asp)
c.129A>C (p.Glu43Asp)
c.6054A>C (p.Glu2018Asp)
c.1490A>C
c.6162A>C (p.Glu2054Asp)
n.445A>C
c.6126A>C (p.Glu2042Asp)
c.213A>C (p.Glu71Asp)
c.317A>C
c.6213A>C (p.Glu2071Asp)
c.6060A>C (p.Glu2020Asp)
c.5847A>C (p.Glu1949Asp)
c.6027A>C (p.Glu2009Asp)
12g.80358738A>GCA480823368OTOGLc.6189A>G (p.Glu2063=)
c.129A>G (p.Glu43=)
c.6054A>G (p.Glu2018=)
c.1490A>G
c.6162A>G (p.Glu2054=)
n.445A>G
c.6126A>G (p.Glu2042=)
c.213A>G (p.Glu71=)
c.317A>G
c.6213A>G (p.Glu2071=)
c.6060A>G (p.Glu2020=)
c.5847A>G (p.Glu1949=)
c.6027A>G (p.Glu2009=)
12g.80358738A>TCA385888806OTOGLc.6189A>T (p.Glu2063Asp)
c.129A>T (p.Glu43Asp)
c.6054A>T (p.Glu2018Asp)
c.1490A>T
c.6162A>T (p.Glu2054Asp)
n.445A>T
c.6126A>T (p.Glu2042Asp)
c.213A>T (p.Glu71Asp)
c.317A>T
c.6213A>T (p.Glu2071Asp)
c.6060A>T (p.Glu2020Asp)
c.5847A>T (p.Glu1949Asp)
c.6027A>T (p.Glu2009Asp)
12g.80358739A>CCA385888807OTOGLc.6190A>C (p.Asn2064His)
c.130A>C (p.Asn44His)
c.6055A>C (p.Asn2019His)
c.1491A>C
c.6163A>C (p.Asn2055His)
n.446A>C
c.6127A>C (p.Asn2043His)
c.214A>C (p.Asn72His)
c.318A>C
c.6214A>C (p.Asn2072His)
c.6061A>C (p.Asn2021His)
c.5848A>C (p.Asn1950His)
c.6028A>C (p.Asn2010His)
12g.80358739A>GCA385888808OTOGLc.6190A>G (p.Asn2064Asp)
c.130A>G (p.Asn44Asp)
c.6055A>G (p.Asn2019Asp)
c.1491A>G
c.6163A>G (p.Asn2055Asp)
n.446A>G
c.6127A>G (p.Asn2043Asp)
c.214A>G (p.Asn72Asp)
c.318A>G
c.6214A>G (p.Asn2072Asp)
c.6061A>G (p.Asn2021Asp)
c.5848A>G (p.Asn1950Asp)
c.6028A>G (p.Asn2010Asp)
12g.80358739A>TCA385888809OTOGLc.6190A>T (p.Asn2064Tyr)
c.130A>T (p.Asn44Tyr)
c.6055A>T (p.Asn2019Tyr)
c.1491A>T
c.6163A>T (p.Asn2055Tyr)
n.446A>T
c.6127A>T (p.Asn2043Tyr)
c.214A>T (p.Asn72Tyr)
c.318A>T
c.6214A>T (p.Asn2072Tyr)
c.6061A>T (p.Asn2021Tyr)
c.5848A>T (p.Asn1950Tyr)
c.6028A>T (p.Asn2010Tyr)
12g.80358740A>CCA385888811OTOGLc.6191A>C (p.Asn2064Thr)
c.131A>C (p.Asn44Thr)
c.6056A>C (p.Asn2019Thr)
c.1492A>C
c.6164A>C (p.Asn2055Thr)
n.447A>C
c.6128A>C (p.Asn2043Thr)
c.215A>C (p.Asn72Thr)
c.319A>C
c.6215A>C (p.Asn2072Thr)
c.6062A>C (p.Asn2021Thr)
c.5849A>C (p.Asn1950Thr)
c.6029A>C (p.Asn2010Thr)
12g.80358740A>GCA385888812OTOGLc.6191A>G (p.Asn2064Ser)
c.131A>G (p.Asn44Ser)
c.6056A>G (p.Asn2019Ser)
c.1492A>G
c.6164A>G (p.Asn2055Ser)
n.447A>G
c.6128A>G (p.Asn2043Ser)
c.215A>G (p.Asn72Ser)
c.319A>G
c.6215A>G (p.Asn2072Ser)
c.6062A>G (p.Asn2021Ser)
c.5849A>G (p.Asn1950Ser)
c.6029A>G (p.Asn2010Ser)
 gnomAD v4
12g.80358740A>TCA385888810OTOGLc.6191A>T (p.Asn2064Ile)
c.131A>T (p.Asn44Ile)
c.6056A>T (p.Asn2019Ile)
c.1492A>T
c.6164A>T (p.Asn2055Ile)
n.447A>T
c.6128A>T (p.Asn2043Ile)
c.215A>T (p.Asn72Ile)
c.319A>T
c.6215A>T (p.Asn2072Ile)
c.6062A>T (p.Asn2021Ile)
c.5849A>T (p.Asn1950Ile)
c.6029A>T (p.Asn2010Ile)
12g.80358741T>ACA385888813OTOGLc.6192T>A (p.Asn2064Lys)
c.132T>A (p.Asn44Lys)
c.6057T>A (p.Asn2019Lys)
c.1493T>A
c.6165T>A (p.Asn2055Lys)
n.448T>A
c.6129T>A (p.Asn2043Lys)
c.216T>A (p.Asn72Lys)
c.320T>A
c.6216T>A (p.Asn2072Lys)
c.6063T>A (p.Asn2021Lys)
c.5850T>A (p.Asn1950Lys)
c.6030T>A (p.Asn2010Lys)
 gnomAD v4
12g.80358741T>CCA480823384OTOGLc.6192T>C (p.Asn2064=)
c.132T>C (p.Asn44=)
c.6057T>C (p.Asn2019=)
c.1493T>C
c.6165T>C (p.Asn2055=)
n.448T>C
c.6129T>C (p.Asn2043=)
c.216T>C (p.Asn72=)
c.320T>C
c.6216T>C (p.Asn2072=)
c.6063T>C (p.Asn2021=)
c.5850T>C (p.Asn1950=)
c.6030T>C (p.Asn2010=)
 gnomAD v4
12g.80358741T>GCA385888814OTOGLc.6192T>G (p.Asn2064Lys)
c.132T>G (p.Asn44Lys)
c.6057T>G (p.Asn2019Lys)
c.1493T>G
c.6165T>G (p.Asn2055Lys)
n.448T>G
c.6129T>G (p.Asn2043Lys)
c.216T>G (p.Asn72Lys)
c.320T>G
c.6216T>G (p.Asn2072Lys)
c.6063T>G (p.Asn2021Lys)
c.5850T>G (p.Asn1950Lys)
c.6030T>G (p.Asn2010Lys)
12g.80358741dupCA645576086OTOGLc.6192dup (p.Val2065CysfsTer12)
c.132dup (p.Val45CysfsTer12)
c.6057dup (p.Val2020CysfsTer12)
c.1493dup
c.6165dup (p.Val2056CysfsTer12)
n.448dup
c.6129dup (p.Val2044CysfsTer12)
c.216dup (p.Val73CysfsTer12)
c.320dup
c.6216dup (p.Val2073CysfsTer12)
c.6063dup (p.Val2022CysfsTer12)
c.5850dup (p.Val1951CysfsTer12)
c.6030dup (p.Val2011CysfsTer12)
 COSMIC COSMIC COSMIC
12g.80358742G>ACA385888815OTOGLc.6193G>A (p.Val2065Ile)
c.133G>A (p.Val45Ile)
c.6058G>A (p.Val2020Ile)
c.1494G>A
c.6166G>A (p.Val2056Ile)
n.449G>A
c.6130G>A (p.Val2044Ile)
c.217G>A (p.Val73Ile)
c.321G>A
c.6217G>A (p.Val2073Ile)
c.6064G>A (p.Val2022Ile)
c.5851G>A (p.Val1951Ile)
c.6031G>A (p.Val2011Ile)
 dbSNP gnomAD v4
12g.80358742G>CCA385888816OTOGLc.6193G>C (p.Val2065Leu)
c.133G>C (p.Val45Leu)
c.6058G>C (p.Val2020Leu)
c.1494G>C
c.6166G>C (p.Val2056Leu)
n.449G>C
c.6130G>C (p.Val2044Leu)
c.217G>C (p.Val73Leu)
c.321G>C
c.6217G>C (p.Val2073Leu)
c.6064G>C (p.Val2022Leu)
c.5851G>C (p.Val1951Leu)
c.6031G>C (p.Val2011Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358742G=CA2049208509OTOGLc.6193G= (p.Val2065=)
c.133G= (p.Val45=)
c.6058G= (p.Val2020=)
c.1494G=
c.6166G= (p.Val2056=)
n.449G=
c.6130G= (p.Val2044=)
c.217G= (p.Val73=)
c.321G=
c.6217G= (p.Val2073=)
c.6064G= (p.Val2022=)
c.5851G= (p.Val1951=)
c.6031G= (p.Val2011=)
12g.80358742G>TCA385888817OTOGLc.6193G>T (p.Val2065Leu)
c.133G>T (p.Val45Leu)
c.6058G>T (p.Val2020Leu)
c.1494G>T
c.6166G>T (p.Val2056Leu)
n.449G>T
c.6130G>T (p.Val2044Leu)
c.217G>T (p.Val73Leu)
c.321G>T
c.6217G>T (p.Val2073Leu)
c.6064G>T (p.Val2022Leu)
c.5851G>T (p.Val1951Leu)
c.6031G>T (p.Val2011Leu)
12g.80358743T>ACA385888818OTOGLc.6194T>A (p.Val2065Glu)
c.134T>A (p.Val45Glu)
c.6059T>A (p.Val2020Glu)
c.1495T>A
c.6167T>A (p.Val2056Glu)
n.450T>A
c.6131T>A (p.Val2044Glu)
c.218T>A (p.Val73Glu)
c.322T>A
c.6218T>A (p.Val2073Glu)
c.6065T>A (p.Val2022Glu)
c.5852T>A (p.Val1951Glu)
c.6032T>A (p.Val2011Glu)
12g.80358743T>CCA385888819OTOGLc.6194T>C (p.Val2065Ala)
c.134T>C (p.Val45Ala)
c.6059T>C (p.Val2020Ala)
c.1495T>C
c.6167T>C (p.Val2056Ala)
n.450T>C
c.6131T>C (p.Val2044Ala)
c.218T>C (p.Val73Ala)
c.322T>C
c.6218T>C (p.Val2073Ala)
c.6065T>C (p.Val2022Ala)
c.5852T>C (p.Val1951Ala)
c.6032T>C (p.Val2011Ala)
 COSMIC COSMIC
12g.80358743T>GCA385888820OTOGLc.6194T>G (p.Val2065Gly)
c.134T>G (p.Val45Gly)
c.6059T>G (p.Val2020Gly)
c.1495T>G
c.6167T>G (p.Val2056Gly)
n.450T>G
c.6131T>G (p.Val2044Gly)
c.218T>G (p.Val73Gly)
c.322T>G
c.6218T>G (p.Val2073Gly)
c.6065T>G (p.Val2022Gly)
c.5852T>G (p.Val1951Gly)
c.6032T>G (p.Val2011Gly)
12g.80358743dupCA480823394OTOGLc.6194dup (p.Ser2066IlefsTer11)
c.134dup (p.Ser46IlefsTer11)
c.6059dup (p.Ser2021IlefsTer11)
c.1495dup
c.6167dup (p.Ser2057IlefsTer11)
n.450dup
c.6131dup (p.Ser2045IlefsTer11)
c.218dup (p.Ser74IlefsTer11)
c.322dup
c.6218dup (p.Ser2074IlefsTer11)
c.6065dup (p.Ser2023IlefsTer11)
c.5852dup (p.Ser1952IlefsTer11)
c.6032dup (p.Ser2012IlefsTer11)
12g.80358744A=CA2049208510OTOGLc.6195A= (p.Val2065=)
c.135A= (p.Val45=)
c.6060A= (p.Val2020=)
c.1496A=
c.6168A= (p.Val2056=)
n.451A=
c.6132A= (p.Val2044=)
c.219A= (p.Val73=)
c.323A=
c.6219A= (p.Val2073=)
c.6066A= (p.Val2022=)
c.5853A= (p.Val1951=)
c.6033A= (p.Val2011=)
12g.80358744A>CCA480823401OTOGLc.6195A>C (p.Val2065=)
c.135A>C (p.Val45=)
c.6060A>C (p.Val2020=)
c.1496A>C
c.6168A>C (p.Val2056=)
n.451A>C
c.6132A>C (p.Val2044=)
c.219A>C (p.Val73=)
c.323A>C
c.6219A>C (p.Val2073=)
c.6066A>C (p.Val2022=)
c.5853A>C (p.Val1951=)
c.6033A>C (p.Val2011=)
12g.80358744A>GCA480823404OTOGLc.6195A>G (p.Val2065=)
c.135A>G (p.Val45=)
c.6060A>G (p.Val2020=)
c.1496A>G
c.6168A>G (p.Val2056=)
n.451A>G
c.6132A>G (p.Val2044=)
c.219A>G (p.Val73=)
c.323A>G
c.6219A>G (p.Val2073=)
c.6066A>G (p.Val2022=)
c.5853A>G (p.Val1951=)
c.6033A>G (p.Val2011=)
 dbSNP gnomAD v4
12g.80358744A>TCA480823407OTOGLc.6195A>T (p.Val2065=)
c.135A>T (p.Val45=)
c.6060A>T (p.Val2020=)
c.1496A>T
c.6168A>T (p.Val2056=)
n.451A>T
c.6132A>T (p.Val2044=)
c.219A>T (p.Val73=)
c.323A>T
c.6219A>T (p.Val2073=)
c.6066A>T (p.Val2022=)
c.5853A>T (p.Val1951=)
c.6033A>T (p.Val2011=)
12g.80358745T>ACA385888821OTOGLc.6196T>A (p.Ser2066Thr)
c.136T>A (p.Ser46Thr)
c.6061T>A (p.Ser2021Thr)
c.1497T>A
c.6169T>A (p.Ser2057Thr)
n.452T>A
c.6133T>A (p.Ser2045Thr)
c.220T>A (p.Ser74Thr)
c.324T>A
c.6220T>A (p.Ser2074Thr)
c.6067T>A (p.Ser2023Thr)
c.5854T>A (p.Ser1952Thr)
c.6034T>A (p.Ser2012Thr)
12g.80358745T>CCA385888822OTOGLc.6196T>C (p.Ser2066Pro)
c.136T>C (p.Ser46Pro)
c.6061T>C (p.Ser2021Pro)
c.1497T>C
c.6169T>C (p.Ser2057Pro)
n.452T>C
c.6133T>C (p.Ser2045Pro)
c.220T>C (p.Ser74Pro)
c.324T>C
c.6220T>C (p.Ser2074Pro)
c.6067T>C (p.Ser2023Pro)
c.5854T>C (p.Ser1952Pro)
c.6034T>C (p.Ser2012Pro)
12g.80358745T>GCA385888823OTOGLc.6196T>G (p.Ser2066Ala)
c.136T>G (p.Ser46Ala)
c.6061T>G (p.Ser2021Ala)
c.1497T>G
c.6169T>G (p.Ser2057Ala)
n.452T>G
c.6133T>G (p.Ser2045Ala)
c.220T>G (p.Ser74Ala)
c.324T>G
c.6220T>G (p.Ser2074Ala)
c.6067T>G (p.Ser2023Ala)
c.5854T>G (p.Ser1952Ala)
c.6034T>G (p.Ser2012Ala)
12g.80358745_80358747delCA2547704669OTOGLc.6196_6198del (p.Ser2066del)
c.136_138del (p.Ser46del)
c.6061_6063del (p.Ser2021del)
c.1497_1499del
c.6169_6171del (p.Ser2057del)
n.452_454del
c.6133_6135del (p.Ser2045del)
c.220_222del (p.Ser74del)
c.324_326del
c.6220_6222del (p.Ser2074del)
c.6067_6069del (p.Ser2023del)
c.5854_5856del (p.Ser1952del)
c.6034_6036del (p.Ser2012del)
12g.80358746C>ACA385888824OTOGLc.6197C>A (p.Ser2066Tyr)
c.137C>A (p.Ser46Tyr)
c.6062C>A (p.Ser2021Tyr)
c.1498C>A
c.6170C>A (p.Ser2057Tyr)
n.453C>A
c.6134C>A (p.Ser2045Tyr)
c.221C>A (p.Ser74Tyr)
c.325C>A
c.6221C>A (p.Ser2074Tyr)
c.6068C>A (p.Ser2023Tyr)
c.5855C>A (p.Ser1952Tyr)
c.6035C>A (p.Ser2012Tyr)
12g.80358746C=CA2049208511OTOGLc.6197C= (p.Ser2066=)
c.137C= (p.Ser46=)
c.6062C= (p.Ser2021=)
c.1498C=
c.6170C= (p.Ser2057=)
n.453C=
c.6134C= (p.Ser2045=)
c.221C= (p.Ser74=)
c.325C=
c.6221C= (p.Ser2074=)
c.6068C= (p.Ser2023=)
c.5855C= (p.Ser1952=)
c.6035C= (p.Ser2012=)
12g.80358746C>GCA6701936OTOGLc.6197C>G (p.Ser2066Cys)
c.137C>G (p.Ser46Cys)
c.6062C>G (p.Ser2021Cys)
c.1498C>G
c.6170C>G (p.Ser2057Cys)
n.453C>G
c.6134C>G (p.Ser2045Cys)
c.221C>G (p.Ser74Cys)
c.325C>G
c.6221C>G (p.Ser2074Cys)
c.6068C>G (p.Ser2023Cys)
c.5855C>G (p.Ser1952Cys)
c.6035C>G (p.Ser2012Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.80358746C>TCA385888825OTOGLc.6197C>T (p.Ser2066Phe)
c.137C>T (p.Ser46Phe)
c.6062C>T (p.Ser2021Phe)
c.1498C>T
c.6170C>T (p.Ser2057Phe)
n.453C>T
c.6134C>T (p.Ser2045Phe)
c.221C>T (p.Ser74Phe)
c.325C>T
c.6221C>T (p.Ser2074Phe)
c.6068C>T (p.Ser2023Phe)
c.5855C>T (p.Ser1952Phe)
c.6035C>T (p.Ser2012Phe)
12g.80358747delCA2620017099OTOGLc.6198del (p.Gly2067ValfsTer29)
c.138del (p.Gly47ValfsTer23)
c.6063del (p.Gly2022ValfsTer29)
c.1499del
c.6171del (p.Gly2058ValfsTer29)
n.454del
c.6135del (p.Gly2046ValfsTer29)
c.222del (p.Gly75ValfsTer29)
c.326del
c.6222del (p.Gly2075ValfsTer29)
c.6069del (p.Gly2024ValfsTer29)
c.5856del (p.Gly1953ValfsTer29)
c.6036del (p.Gly2013ValfsTer29)
 gnomAD v4
12g.80358747T>ACA480823421OTOGLc.6198T>A (p.Ser2066=)
c.138T>A (p.Ser46=)
c.6063T>A (p.Ser2021=)
c.1499T>A
c.6171T>A (p.Ser2057=)
n.454T>A
c.6135T>A (p.Ser2045=)
c.222T>A (p.Ser74=)
c.326T>A
c.6222T>A (p.Ser2074=)
c.6069T>A (p.Ser2023=)
c.5856T>A (p.Ser1952=)
c.6036T>A (p.Ser2012=)
12g.80358747T>CCA6701937OTOGLc.6198T>C (p.Ser2066=)
c.138T>C (p.Ser46=)
c.6063T>C (p.Ser2021=)
c.1499T>C
c.6171T>C (p.Ser2057=)
n.454T>C
c.6135T>C (p.Ser2045=)
c.222T>C (p.Ser74=)
c.326T>C
c.6222T>C (p.Ser2074=)
c.6069T>C (p.Ser2023=)
c.5856T>C (p.Ser1952=)
c.6036T>C (p.Ser2012=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358747T>GCA480823424OTOGLc.6198T>G (p.Ser2066=)
c.138T>G (p.Ser46=)
c.6063T>G (p.Ser2021=)
c.1499T>G
c.6171T>G (p.Ser2057=)
n.454T>G
c.6135T>G (p.Ser2045=)
c.222T>G (p.Ser74=)
c.326T>G
c.6222T>G (p.Ser2074=)
c.6069T>G (p.Ser2023=)
c.5856T>G (p.Ser1952=)
c.6036T>G (p.Ser2012=)
12g.80358747T=CA2049208512OTOGLc.6198T= (p.Ser2066=)
c.138T= (p.Ser46=)
c.6063T= (p.Ser2021=)
c.1499T=
c.6171T= (p.Ser2057=)
n.454T=
c.6135T= (p.Ser2045=)
c.222T= (p.Ser74=)
c.326T=
c.6222T= (p.Ser2074=)
c.6069T= (p.Ser2023=)
c.5856T= (p.Ser1952=)
c.6036T= (p.Ser2012=)
12g.80358748G>ACA385888826OTOGLc.6199G>A (p.Gly2067Ser)
c.139G>A (p.Gly47Ser)
c.6064G>A (p.Gly2022Ser)
c.1500G>A
c.6172G>A (p.Gly2058Ser)
n.455G>A
c.6136G>A (p.Gly2046Ser)
c.223G>A (p.Gly75Ser)
c.327G>A
c.6223G>A (p.Gly2075Ser)
c.6070G>A (p.Gly2024Ser)
c.5857G>A (p.Gly1953Ser)
c.6037G>A (p.Gly2013Ser)
12g.80358748G>CCA385888827OTOGLc.6199G>C (p.Gly2067Arg)
c.139G>C (p.Gly47Arg)
c.6064G>C (p.Gly2022Arg)
c.1500G>C
c.6172G>C (p.Gly2058Arg)
n.455G>C
c.6136G>C (p.Gly2046Arg)
c.223G>C (p.Gly75Arg)
c.327G>C
c.6223G>C (p.Gly2075Arg)
c.6070G>C (p.Gly2024Arg)
c.5857G>C (p.Gly1953Arg)
c.6037G>C (p.Gly2013Arg)
12g.80358748G>TCA385888828OTOGLc.6199G>T (p.Gly2067Cys)
c.139G>T (p.Gly47Cys)
c.6064G>T (p.Gly2022Cys)
c.1500G>T
c.6172G>T (p.Gly2058Cys)
n.455G>T
c.6136G>T (p.Gly2046Cys)
c.223G>T (p.Gly75Cys)
c.327G>T
c.6223G>T (p.Gly2075Cys)
c.6070G>T (p.Gly2024Cys)
c.5857G>T (p.Gly1953Cys)
c.6037G>T (p.Gly2013Cys)
12g.80358749G>ACA385888829OTOGLc.6200G>A (p.Gly2067Asp)
c.140G>A (p.Gly47Asp)
c.6065G>A (p.Gly2022Asp)
c.1501G>A
c.6173G>A (p.Gly2058Asp)
n.456G>A
c.6137G>A (p.Gly2046Asp)
c.224G>A (p.Gly75Asp)
c.328G>A
c.6224G>A (p.Gly2075Asp)
c.6071G>A (p.Gly2024Asp)
c.5858G>A (p.Gly1953Asp)
c.6038G>A (p.Gly2013Asp)
12g.80358749G>CCA385888830OTOGLc.6200G>C (p.Gly2067Ala)
c.140G>C (p.Gly47Ala)
c.6065G>C (p.Gly2022Ala)
c.1501G>C
c.6173G>C (p.Gly2058Ala)
n.456G>C
c.6137G>C (p.Gly2046Ala)
c.224G>C (p.Gly75Ala)
c.328G>C
c.6224G>C (p.Gly2075Ala)
c.6071G>C (p.Gly2024Ala)
c.5858G>C (p.Gly1953Ala)
c.6038G>C (p.Gly2013Ala)
12g.80358749G>TCA385888831OTOGLc.6200G>T (p.Gly2067Val)
c.140G>T (p.Gly47Val)
c.6065G>T (p.Gly2022Val)
c.1501G>T
c.6173G>T (p.Gly2058Val)
n.456G>T
c.6137G>T (p.Gly2046Val)
c.224G>T (p.Gly75Val)
c.328G>T
c.6224G>T (p.Gly2075Val)
c.6071G>T (p.Gly2024Val)
c.5858G>T (p.Gly1953Val)
c.6038G>T (p.Gly2013Val)
12g.80358750T>ACA480823437OTOGLc.6201T>A (p.Gly2067=)
c.141T>A (p.Gly47=)
c.6066T>A (p.Gly2022=)
c.1502T>A
c.6174T>A (p.Gly2058=)
n.457T>A
c.6138T>A (p.Gly2046=)
c.225T>A (p.Gly75=)
c.329T>A
c.6225T>A (p.Gly2075=)
c.6072T>A (p.Gly2024=)
c.5859T>A (p.Gly1953=)
c.6039T>A (p.Gly2013=)
12g.80358750T>CCA480823439OTOGLc.6201T>C (p.Gly2067=)
c.141T>C (p.Gly47=)
c.6066T>C (p.Gly2022=)
c.1502T>C
c.6174T>C (p.Gly2058=)
n.457T>C
c.6138T>C (p.Gly2046=)
c.225T>C (p.Gly75=)
c.329T>C
c.6225T>C (p.Gly2075=)
c.6072T>C (p.Gly2024=)
c.5859T>C (p.Gly1953=)
c.6039T>C (p.Gly2013=)
12g.80358750T>GCA240239702OTOGLc.6201T>G (p.Gly2067=)
c.141T>G (p.Gly47=)
c.6066T>G (p.Gly2022=)
c.1502T>G
c.6174T>G (p.Gly2058=)
n.457T>G
c.6138T>G (p.Gly2046=)
c.225T>G (p.Gly75=)
c.329T>G
c.6225T>G (p.Gly2075=)
c.6072T>G (p.Gly2024=)
c.5859T>G (p.Gly1953=)
c.6039T>G (p.Gly2013=)
 dbSNP
12g.80358750T=CA2049208513OTOGLc.6201T= (p.Gly2067=)
c.141T= (p.Gly47=)
c.6066T= (p.Gly2022=)
c.1502T=
c.6174T= (p.Gly2058=)
n.457T=
c.6138T= (p.Gly2046=)
c.225T= (p.Gly75=)
c.329T=
c.6225T= (p.Gly2075=)
c.6072T= (p.Gly2024=)
c.5859T= (p.Gly1953=)
c.6039T= (p.Gly2013=)
12g.80358751C>ACA385888832OTOGLc.6202C>A (p.Gln2068Lys)
c.142C>A (p.Gln48Lys)
c.6067C>A (p.Gln2023Lys)
c.1503C>A
c.6175C>A (p.Gln2059Lys)
n.458C>A
c.6139C>A (p.Gln2047Lys)
c.226C>A (p.Gln76Lys)
c.330C>A
c.6226C>A (p.Gln2076Lys)
c.6073C>A (p.Gln2025Lys)
c.5860C>A (p.Gln1954Lys)
c.6040C>A (p.Gln2014Lys)
 gnomAD v4
12g.80358751C>GCA385888833OTOGLc.6202C>G (p.Gln2068Glu)
c.142C>G (p.Gln48Glu)
c.6067C>G (p.Gln2023Glu)
c.1503C>G
c.6175C>G (p.Gln2059Glu)
n.458C>G
c.6139C>G (p.Gln2047Glu)
c.226C>G (p.Gln76Glu)
c.330C>G
c.6226C>G (p.Gln2076Glu)
c.6073C>G (p.Gln2025Glu)
c.5860C>G (p.Gln1954Glu)
c.6040C>G (p.Gln2014Glu)
12g.80358751C>TCA385888834OTOGLc.6202C>T (p.Gln2068Ter)
c.142C>T (p.Gln48Ter)
c.6067C>T (p.Gln2023Ter)
c.1503C>T
c.6175C>T (p.Gln2059Ter)
n.458C>T
c.6139C>T (p.Gln2047Ter)
c.226C>T (p.Gln76Ter)
c.330C>T
c.6226C>T (p.Gln2076Ter)
c.6073C>T (p.Gln2025Ter)
c.5860C>T (p.Gln1954Ter)
c.6040C>T (p.Gln2014Ter)
12g.80358752A=CA2049208514OTOGLc.6203A= (p.Gln2068=)
c.143A= (p.Gln48=)
c.6068A= (p.Gln2023=)
c.1504A=
c.6176A= (p.Gln2059=)
n.459A=
c.6140A= (p.Gln2047=)
c.227A= (p.Gln76=)
c.331A=
c.6227A= (p.Gln2076=)
c.6074A= (p.Gln2025=)
c.5861A= (p.Gln1954=)
c.6041A= (p.Gln2014=)
12g.80358752A>CCA385888835OTOGLc.6203A>C (p.Gln2068Pro)
c.143A>C (p.Gln48Pro)
c.6068A>C (p.Gln2023Pro)
c.1504A>C
c.6176A>C (p.Gln2059Pro)
n.459A>C
c.6140A>C (p.Gln2047Pro)
c.227A>C (p.Gln76Pro)
c.331A>C
c.6227A>C (p.Gln2076Pro)
c.6074A>C (p.Gln2025Pro)
c.5861A>C (p.Gln1954Pro)
c.6041A>C (p.Gln2014Pro)
12g.80358752A>GCA6701938OTOGLc.6203A>G (p.Gln2068Arg)
c.143A>G (p.Gln48Arg)
c.6068A>G (p.Gln2023Arg)
c.1504A>G
c.6176A>G (p.Gln2059Arg)
n.459A>G
c.6140A>G (p.Gln2047Arg)
c.227A>G (p.Gln76Arg)
c.331A>G
c.6227A>G (p.Gln2076Arg)
c.6074A>G (p.Gln2025Arg)
c.5861A>G (p.Gln1954Arg)
c.6041A>G (p.Gln2014Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358752A>TCA385888836OTOGLc.6203A>T (p.Gln2068Leu)
c.143A>T (p.Gln48Leu)
c.6068A>T (p.Gln2023Leu)
c.1504A>T
c.6176A>T (p.Gln2059Leu)
n.459A>T
c.6140A>T (p.Gln2047Leu)
c.227A>T (p.Gln76Leu)
c.331A>T
c.6227A>T (p.Gln2076Leu)
c.6074A>T (p.Gln2025Leu)
c.5861A>T (p.Gln1954Leu)
c.6041A>T (p.Gln2014Leu)
12g.80358753A=CA2049208515OTOGLc.6204A= (p.Gln2068=)
c.144A= (p.Gln48=)
c.6069A= (p.Gln2023=)
c.1505A=
c.6177A= (p.Gln2059=)
n.460A=
c.6141A= (p.Gln2047=)
c.228A= (p.Gln76=)
c.332A=
c.6228A= (p.Gln2076=)
c.6075A= (p.Gln2025=)
c.5862A= (p.Gln1954=)
c.6042A= (p.Gln2014=)
12g.80358753A>CCA385888838OTOGLc.6204A>C (p.Gln2068His)
c.144A>C (p.Gln48His)
c.6069A>C (p.Gln2023His)
c.1505A>C
c.6177A>C (p.Gln2059His)
n.460A>C
c.6141A>C (p.Gln2047His)
c.228A>C (p.Gln76His)
c.332A>C
c.6228A>C (p.Gln2076His)
c.6075A>C (p.Gln2025His)
c.5862A>C (p.Gln1954His)
c.6042A>C (p.Gln2014His)
12g.80358753A>GCA6701939OTOGLc.6204A>G (p.Gln2068=)
c.144A>G (p.Gln48=)
c.6069A>G (p.Gln2023=)
c.1505A>G
c.6177A>G (p.Gln2059=)
n.460A>G
c.6141A>G (p.Gln2047=)
c.228A>G (p.Gln76=)
c.332A>G
c.6228A>G (p.Gln2076=)
c.6075A>G (p.Gln2025=)
c.5862A>G (p.Gln1954=)
c.6042A>G (p.Gln2014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358753A>TCA385888837OTOGLc.6204A>T (p.Gln2068His)
c.144A>T (p.Gln48His)
c.6069A>T (p.Gln2023His)
c.1505A>T
c.6177A>T (p.Gln2059His)
n.460A>T
c.6141A>T (p.Gln2047His)
c.228A>T (p.Gln76His)
c.332A>T
c.6228A>T (p.Gln2076His)
c.6075A>T (p.Gln2025His)
c.5862A>T (p.Gln1954His)
c.6042A>T (p.Gln2014His)
12g.80358754T>ACA385888839OTOGLc.6205T>A (p.Cys2069Ser)
c.145T>A (p.Cys49Ser)
c.6070T>A (p.Cys2024Ser)
c.1506T>A
c.6178T>A (p.Cys2060Ser)
n.461T>A
c.6142T>A (p.Cys2048Ser)
c.229T>A (p.Cys77Ser)
c.333T>A
c.6229T>A (p.Cys2077Ser)
c.6076T>A (p.Cys2026Ser)
c.5863T>A (p.Cys1955Ser)
c.6043T>A (p.Cys2015Ser)
12g.80358754T>CCA385888840OTOGLc.6205T>C (p.Cys2069Arg)
c.145T>C (p.Cys49Arg)
c.6070T>C (p.Cys2024Arg)
c.1506T>C
c.6178T>C (p.Cys2060Arg)
n.461T>C
c.6142T>C (p.Cys2048Arg)
c.229T>C (p.Cys77Arg)
c.333T>C
c.6229T>C (p.Cys2077Arg)
c.6076T>C (p.Cys2026Arg)
c.5863T>C (p.Cys1955Arg)
c.6043T>C (p.Cys2015Arg)
12g.80358754T>GCA385888841OTOGLc.6205T>G (p.Cys2069Gly)
c.145T>G (p.Cys49Gly)
c.6070T>G (p.Cys2024Gly)
c.1506T>G
c.6178T>G (p.Cys2060Gly)
n.461T>G
c.6142T>G (p.Cys2048Gly)
c.229T>G (p.Cys77Gly)
c.333T>G
c.6229T>G (p.Cys2077Gly)
c.6076T>G (p.Cys2026Gly)
c.5863T>G (p.Cys1955Gly)
c.6043T>G (p.Cys2015Gly)
12g.80358755G>ACA385888842OTOGLc.6206G>A (p.Cys2069Tyr)
c.146G>A (p.Cys49Tyr)
c.6071G>A (p.Cys2024Tyr)
c.1507G>A
c.6179G>A (p.Cys2060Tyr)
n.462G>A
c.6143G>A (p.Cys2048Tyr)
c.230G>A (p.Cys77Tyr)
c.334G>A
c.6230G>A (p.Cys2077Tyr)
c.6077G>A (p.Cys2026Tyr)
c.5864G>A (p.Cys1955Tyr)
c.6044G>A (p.Cys2015Tyr)
 gnomAD v4
12g.80358755G>CCA385888843OTOGLc.6206G>C (p.Cys2069Ser)
c.146G>C (p.Cys49Ser)
c.6071G>C (p.Cys2024Ser)
c.1507G>C
c.6179G>C (p.Cys2060Ser)
n.462G>C
c.6143G>C (p.Cys2048Ser)
c.230G>C (p.Cys77Ser)
c.334G>C
c.6230G>C (p.Cys2077Ser)
c.6077G>C (p.Cys2026Ser)
c.5864G>C (p.Cys1955Ser)
c.6044G>C (p.Cys2015Ser)
12g.80358755G>TCA385888844OTOGLc.6206G>T (p.Cys2069Phe)
c.146G>T (p.Cys49Phe)
c.6071G>T (p.Cys2024Phe)
c.1507G>T
c.6179G>T (p.Cys2060Phe)
n.462G>T
c.6143G>T (p.Cys2048Phe)
c.230G>T (p.Cys77Phe)
c.334G>T
c.6230G>T (p.Cys2077Phe)
c.6077G>T (p.Cys2026Phe)
c.5864G>T (p.Cys1955Phe)
c.6044G>T (p.Cys2015Phe)
12g.80358756T>ACA385888845OTOGLc.6207T>A (p.Cys2069Ter)
c.147T>A (p.Cys49Ter)
c.6072T>A (p.Cys2024Ter)
c.1508T>A
c.6180T>A (p.Cys2060Ter)
n.463T>A
c.6144T>A (p.Cys2048Ter)
c.231T>A (p.Cys77Ter)
c.335T>A
c.6231T>A (p.Cys2077Ter)
c.6078T>A (p.Cys2026Ter)
c.5865T>A (p.Cys1955Ter)
c.6045T>A (p.Cys2015Ter)
12g.80358756T>CCA480823471OTOGLc.6207T>C (p.Cys2069=)
c.147T>C (p.Cys49=)
c.6072T>C (p.Cys2024=)
c.1508T>C
c.6180T>C (p.Cys2060=)
n.463T>C
c.6144T>C (p.Cys2048=)
c.231T>C (p.Cys77=)
c.335T>C
c.6231T>C (p.Cys2077=)
c.6078T>C (p.Cys2026=)
c.5865T>C (p.Cys1955=)
c.6045T>C (p.Cys2015=)
 gnomAD v4
12g.80358756T>GCA385888846OTOGLc.6207T>G (p.Cys2069Trp)
c.147T>G (p.Cys49Trp)
c.6072T>G (p.Cys2024Trp)
c.1508T>G
c.6180T>G (p.Cys2060Trp)
n.463T>G
c.6144T>G (p.Cys2048Trp)
c.231T>G (p.Cys77Trp)
c.335T>G
c.6231T>G (p.Cys2077Trp)
c.6078T>G (p.Cys2026Trp)
c.5865T>G (p.Cys1955Trp)
c.6045T>G (p.Cys2015Trp)
12g.80358757T>ACA385888847OTOGLc.6208T>A (p.Cys2070Ser)
c.148T>A (p.Cys50Ser)
c.6073T>A (p.Cys2025Ser)
c.1509T>A
c.6181T>A (p.Cys2061Ser)
n.464T>A
c.6145T>A (p.Cys2049Ser)
c.232T>A (p.Cys78Ser)
c.336T>A
c.6232T>A (p.Cys2078Ser)
c.6079T>A (p.Cys2027Ser)
c.5866T>A (p.Cys1956Ser)
c.6046T>A (p.Cys2016Ser)
12g.80358757T>CCA385888848OTOGLc.6208T>C (p.Cys2070Arg)
c.148T>C (p.Cys50Arg)
c.6073T>C (p.Cys2025Arg)
c.1509T>C
c.6181T>C (p.Cys2061Arg)
n.464T>C
c.6145T>C (p.Cys2049Arg)
c.232T>C (p.Cys78Arg)
c.336T>C
c.6232T>C (p.Cys2078Arg)
c.6079T>C (p.Cys2027Arg)
c.5866T>C (p.Cys1956Arg)
c.6046T>C (p.Cys2016Arg)
 gnomAD v4
12g.80358757T>GCA385888849OTOGLc.6208T>G (p.Cys2070Gly)
c.148T>G (p.Cys50Gly)
c.6073T>G (p.Cys2025Gly)
c.1509T>G
c.6181T>G (p.Cys2061Gly)
n.464T>G
c.6145T>G (p.Cys2049Gly)
c.232T>G (p.Cys78Gly)
c.336T>G
c.6232T>G (p.Cys2078Gly)
c.6079T>G (p.Cys2027Gly)
c.5866T>G (p.Cys1956Gly)
c.6046T>G (p.Cys2016Gly)
12g.80358758G>ACA385888850OTOGLc.6209G>A (p.Cys2070Tyr)
c.149G>A (p.Cys50Tyr)
c.6074G>A (p.Cys2025Tyr)
c.1510G>A
c.6182G>A (p.Cys2061Tyr)
n.465G>A
c.6146G>A (p.Cys2049Tyr)
c.233G>A (p.Cys78Tyr)
c.337G>A
c.6233G>A (p.Cys2078Tyr)
c.6080G>A (p.Cys2027Tyr)
c.5867G>A (p.Cys1956Tyr)
c.6047G>A (p.Cys2016Tyr)
 gnomAD v4
12g.80358758G>CCA385888851OTOGLc.6209G>C (p.Cys2070Ser)
c.149G>C (p.Cys50Ser)
c.6074G>C (p.Cys2025Ser)
c.1510G>C
c.6182G>C (p.Cys2061Ser)
n.465G>C
c.6146G>C (p.Cys2049Ser)
c.233G>C (p.Cys78Ser)
c.337G>C
c.6233G>C (p.Cys2078Ser)
c.6080G>C (p.Cys2027Ser)
c.5867G>C (p.Cys1956Ser)
c.6047G>C (p.Cys2016Ser)
12g.80358758G>TCA385888852OTOGLc.6209G>T (p.Cys2070Phe)
c.149G>T (p.Cys50Phe)
c.6074G>T (p.Cys2025Phe)
c.1510G>T
c.6182G>T (p.Cys2061Phe)
n.465G>T
c.6146G>T (p.Cys2049Phe)
c.233G>T (p.Cys78Phe)
c.337G>T
c.6233G>T (p.Cys2078Phe)
c.6080G>T (p.Cys2027Phe)
c.5867G>T (p.Cys1956Phe)
c.6047G>T (p.Cys2016Phe)
12g.80358759C>ACA385888853OTOGLc.6210C>A (p.Cys2070Ter)
c.150C>A (p.Cys50Ter)
c.6075C>A (p.Cys2025Ter)
c.1511C>A
c.6183C>A (p.Cys2061Ter)
n.466C>A
c.6147C>A (p.Cys2049Ter)
c.234C>A (p.Cys78Ter)
c.338C>A
c.6234C>A (p.Cys2078Ter)
c.6081C>A (p.Cys2027Ter)
c.5868C>A (p.Cys1956Ter)
c.6048C>A (p.Cys2016Ter)
12g.80358759C>GCA385888854OTOGLc.6210C>G (p.Cys2070Trp)
c.150C>G (p.Cys50Trp)
c.6075C>G (p.Cys2025Trp)
c.1511C>G
c.6183C>G (p.Cys2061Trp)
n.466C>G
c.6147C>G (p.Cys2049Trp)
c.234C>G (p.Cys78Trp)
c.338C>G
c.6234C>G (p.Cys2078Trp)
c.6081C>G (p.Cys2027Trp)
c.5868C>G (p.Cys1956Trp)
c.6048C>G (p.Cys2016Trp)
12g.80358759C>TCA480823487OTOGLc.6210C>T (p.Cys2070=)
c.150C>T (p.Cys50=)
c.6075C>T (p.Cys2025=)
c.1511C>T
c.6183C>T (p.Cys2061=)
n.466C>T
c.6147C>T (p.Cys2049=)
c.234C>T (p.Cys78=)
c.338C>T
c.6234C>T (p.Cys2078=)
c.6081C>T (p.Cys2027=)
c.5868C>T (p.Cys1956=)
c.6048C>T (p.Cys2016=)
 gnomAD v4
12g.80358761delCA2575235838OTOGLc.6212del (p.Pro2071GlnfsTer25)
c.152del (p.Pro51GlnfsTer19)
c.6077del (p.Pro2026GlnfsTer25)
c.1513del
c.6185del (p.Pro2062GlnfsTer25)
n.468del
c.6149del (p.Pro2050GlnfsTer25)
c.236del (p.Pro79GlnfsTer25)
c.340del
c.6236del (p.Pro2079GlnfsTer25)
c.6083del (p.Pro2028GlnfsTer25)
c.5870del (p.Pro1957GlnfsTer25)
c.6050del (p.Pro2017GlnfsTer25)
12g.80358760C>ACA385888855OTOGLc.6211C>A (p.Pro2071Thr)
c.151C>A (p.Pro51Thr)
c.6076C>A (p.Pro2026Thr)
c.1512C>A
c.6184C>A (p.Pro2062Thr)
n.467C>A
c.6148C>A (p.Pro2050Thr)
c.235C>A (p.Pro79Thr)
c.339C>A
c.6235C>A (p.Pro2079Thr)
c.6082C>A (p.Pro2028Thr)
c.5869C>A (p.Pro1957Thr)
c.6049C>A (p.Pro2017Thr)
12g.80358760C=CA2049208516OTOGLc.6211C= (p.Pro2071=)
c.151C= (p.Pro51=)
c.6076C= (p.Pro2026=)
c.1512C=
c.6184C= (p.Pro2062=)
n.467C=
c.6148C= (p.Pro2050=)
c.235C= (p.Pro79=)
c.339C=
c.6235C= (p.Pro2079=)
c.6082C= (p.Pro2028=)
c.5869C= (p.Pro1957=)
c.6049C= (p.Pro2017=)
12g.80358760C>GCA385888856OTOGLc.6211C>G (p.Pro2071Ala)
c.151C>G (p.Pro51Ala)
c.6076C>G (p.Pro2026Ala)
c.1512C>G
c.6184C>G (p.Pro2062Ala)
n.467C>G
c.6148C>G (p.Pro2050Ala)
c.235C>G (p.Pro79Ala)
c.339C>G
c.6235C>G (p.Pro2079Ala)
c.6082C>G (p.Pro2028Ala)
c.5869C>G (p.Pro1957Ala)
c.6049C>G (p.Pro2017Ala)
12g.80358760C>TCA240239709OTOGLc.6211C>T (p.Pro2071Ser)
c.151C>T (p.Pro51Ser)
c.6076C>T (p.Pro2026Ser)
c.1512C>T
c.6184C>T (p.Pro2062Ser)
n.467C>T
c.6148C>T (p.Pro2050Ser)
c.235C>T (p.Pro79Ser)
c.339C>T
c.6235C>T (p.Pro2079Ser)
c.6082C>T (p.Pro2028Ser)
c.5869C>T (p.Pro1957Ser)
c.6049C>T (p.Pro2017Ser)
 dbSNP gnomAD v4
12g.80358761C>ACA385888857OTOGLc.6212C>A (p.Pro2071Gln)
c.152C>A (p.Pro51Gln)
c.6077C>A (p.Pro2026Gln)
c.1513C>A
c.6185C>A (p.Pro2062Gln)
n.468C>A
c.6149C>A (p.Pro2050Gln)
c.236C>A (p.Pro79Gln)
c.340C>A
c.6236C>A (p.Pro2079Gln)
c.6083C>A (p.Pro2028Gln)
c.5870C>A (p.Pro1957Gln)
c.6050C>A (p.Pro2017Gln)
 dbSNP gnomAD v3 gnomAD v4
12g.80358761C=CA2049208517OTOGLc.6212C= (p.Pro2071=)
c.152C= (p.Pro51=)
c.6077C= (p.Pro2026=)
c.1513C=
c.6185C= (p.Pro2062=)
n.468C=
c.6149C= (p.Pro2050=)
c.236C= (p.Pro79=)
c.340C=
c.6236C= (p.Pro2079=)
c.6083C= (p.Pro2028=)
c.5870C= (p.Pro1957=)
c.6050C= (p.Pro2017=)
12g.80358761C>GCA385888858OTOGLc.6212C>G (p.Pro2071Arg)
c.152C>G (p.Pro51Arg)
c.6077C>G (p.Pro2026Arg)
c.1513C>G
c.6185C>G (p.Pro2062Arg)
n.468C>G
c.6149C>G (p.Pro2050Arg)
c.236C>G (p.Pro79Arg)
c.340C>G
c.6236C>G (p.Pro2079Arg)
c.6083C>G (p.Pro2028Arg)
c.5870C>G (p.Pro1957Arg)
c.6050C>G (p.Pro2017Arg)
12g.80358761C>TCA385888859OTOGLc.6212C>T (p.Pro2071Leu)
c.152C>T (p.Pro51Leu)
c.6077C>T (p.Pro2026Leu)
c.1513C>T
c.6185C>T (p.Pro2062Leu)
n.468C>T
c.6149C>T (p.Pro2050Leu)
c.236C>T (p.Pro79Leu)
c.340C>T
c.6236C>T (p.Pro2079Leu)
c.6083C>T (p.Pro2028Leu)
c.5870C>T (p.Pro1957Leu)
c.6050C>T (p.Pro2017Leu)
12g.80358762A>CCA480823502OTOGLc.6213A>C (p.Pro2071=)
c.153A>C (p.Pro51=)
c.6078A>C (p.Pro2026=)
c.1514A>C
c.6186A>C (p.Pro2062=)
n.469A>C
c.6150A>C (p.Pro2050=)
c.237A>C (p.Pro79=)
c.341A>C
c.6237A>C (p.Pro2079=)
c.6084A>C (p.Pro2028=)
c.5871A>C (p.Pro1957=)
c.6051A>C (p.Pro2017=)
12g.80358762A>GCA480823504OTOGLc.6213A>G (p.Pro2071=)
c.153A>G (p.Pro51=)
c.6078A>G (p.Pro2026=)
c.1514A>G
c.6186A>G (p.Pro2062=)
n.469A>G
c.6150A>G (p.Pro2050=)
c.237A>G (p.Pro79=)
c.341A>G
c.6237A>G (p.Pro2079=)
c.6084A>G (p.Pro2028=)
c.5871A>G (p.Pro1957=)
c.6051A>G (p.Pro2017=)
12g.80358762A>TCA480823507OTOGLc.6213A>T (p.Pro2071=)
c.153A>T (p.Pro51=)
c.6078A>T (p.Pro2026=)
c.1514A>T
c.6186A>T (p.Pro2062=)
n.469A>T
c.6150A>T (p.Pro2050=)
c.237A>T (p.Pro79=)
c.341A>T
c.6237A>T (p.Pro2079=)
c.6084A>T (p.Pro2028=)
c.5871A>T (p.Pro1957=)
c.6051A>T (p.Pro2017=)
12g.80358763A>CCA385888860OTOGLc.6214A>C (p.Thr2072Pro)
c.154A>C (p.Thr52Pro)
c.6079A>C (p.Thr2027Pro)
c.1515A>C
c.6187A>C (p.Thr2063Pro)
n.470A>C
c.6151A>C (p.Thr2051Pro)
c.238A>C (p.Thr80Pro)
c.342A>C
c.6238A>C (p.Thr2080Pro)
c.6085A>C (p.Thr2029Pro)
c.5872A>C (p.Thr1958Pro)
c.6052A>C (p.Thr2018Pro)
12g.80358763A>GCA385888861OTOGLc.6214A>G (p.Thr2072Ala)
c.154A>G (p.Thr52Ala)
c.6079A>G (p.Thr2027Ala)
c.1515A>G
c.6187A>G (p.Thr2063Ala)
n.470A>G
c.6151A>G (p.Thr2051Ala)
c.238A>G (p.Thr80Ala)
c.342A>G
c.6238A>G (p.Thr2080Ala)
c.6085A>G (p.Thr2029Ala)
c.5872A>G (p.Thr1958Ala)
c.6052A>G (p.Thr2018Ala)
 gnomAD v4
12g.80358763A>TCA385888862OTOGLc.6214A>T (p.Thr2072Ser)
c.154A>T (p.Thr52Ser)
c.6079A>T (p.Thr2027Ser)
c.1515A>T
c.6187A>T (p.Thr2063Ser)
n.470A>T
c.6151A>T (p.Thr2051Ser)
c.238A>T (p.Thr80Ser)
c.342A>T
c.6238A>T (p.Thr2080Ser)
c.6085A>T (p.Thr2029Ser)
c.5872A>T (p.Thr1958Ser)
c.6052A>T (p.Thr2018Ser)
12g.80358764C>ACA385888863OTOGLc.6215C>A (p.Thr2072Lys)
c.155C>A (p.Thr52Lys)
c.6080C>A (p.Thr2027Lys)
c.1516C>A
c.6188C>A (p.Thr2063Lys)
n.471C>A
c.6152C>A (p.Thr2051Lys)
c.239C>A (p.Thr80Lys)
c.343C>A
c.6239C>A (p.Thr2080Lys)
c.6086C>A (p.Thr2029Lys)
c.5873C>A (p.Thr1958Lys)
c.6053C>A (p.Thr2018Lys)
12g.80358764C=CA2049208518OTOGLc.6215C= (p.Thr2072=)
c.155C= (p.Thr52=)
c.6080C= (p.Thr2027=)
c.1516C=
c.6188C= (p.Thr2063=)
n.471C=
c.6152C= (p.Thr2051=)
c.239C= (p.Thr80=)
c.343C=
c.6239C= (p.Thr2080=)
c.6086C= (p.Thr2029=)
c.5873C= (p.Thr1958=)
c.6053C= (p.Thr2018=)
12g.80358764C>GCA6701940OTOGLc.6215C>G (p.Thr2072Arg)
c.155C>G (p.Thr52Arg)
c.6080C>G (p.Thr2027Arg)
c.1516C>G
c.6188C>G (p.Thr2063Arg)
n.471C>G
c.6152C>G (p.Thr2051Arg)
c.239C>G (p.Thr80Arg)
c.343C>G
c.6239C>G (p.Thr2080Arg)
c.6086C>G (p.Thr2029Arg)
c.5873C>G (p.Thr1958Arg)
c.6053C>G (p.Thr2018Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358764C>TCA240239710OTOGLc.6215C>T (p.Thr2072Ile)
c.155C>T (p.Thr52Ile)
c.6080C>T (p.Thr2027Ile)
c.1516C>T
c.6188C>T (p.Thr2063Ile)
n.471C>T
c.6152C>T (p.Thr2051Ile)
c.239C>T (p.Thr80Ile)
c.343C>T
c.6239C>T (p.Thr2080Ile)
c.6086C>T (p.Thr2029Ile)
c.5873C>T (p.Thr1958Ile)
c.6053C>T (p.Thr2018Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358765A=CA2049208519OTOGLc.6216A= (p.Thr2072=)
c.156A= (p.Thr52=)
c.6081A= (p.Thr2027=)
c.1517A=
c.6189A= (p.Thr2063=)
n.472A=
c.6153A= (p.Thr2051=)
c.240A= (p.Thr80=)
c.344A=
c.6240A= (p.Thr2080=)
c.6087A= (p.Thr2029=)
c.5874A= (p.Thr1958=)
c.6054A= (p.Thr2018=)
12g.80358765A>CCA240239711OTOGLc.6216A>C (p.Thr2072=)
c.156A>C (p.Thr52=)
c.6081A>C (p.Thr2027=)
c.1517A>C
c.6189A>C (p.Thr2063=)
n.472A>C
c.6153A>C (p.Thr2051=)
c.240A>C (p.Thr80=)
c.344A>C
c.6240A>C (p.Thr2080=)
c.6087A>C (p.Thr2029=)
c.5874A>C (p.Thr1958=)
c.6054A>C (p.Thr2018=)
 dbSNP gnomAD v4
12g.80358765A>GCA480823525OTOGLc.6216A>G (p.Thr2072=)
c.156A>G (p.Thr52=)
c.6081A>G (p.Thr2027=)
c.1517A>G
c.6189A>G (p.Thr2063=)
n.472A>G
c.6153A>G (p.Thr2051=)
c.240A>G (p.Thr80=)
c.344A>G
c.6240A>G (p.Thr2080=)
c.6087A>G (p.Thr2029=)
c.5874A>G (p.Thr1958=)
c.6054A>G (p.Thr2018=)
 gnomAD v4
12g.80358765A>TCA480823522OTOGLc.6216A>T (p.Thr2072=)
c.156A>T (p.Thr52=)
c.6081A>T (p.Thr2027=)
c.1517A>T
c.6189A>T (p.Thr2063=)
n.472A>T
c.6153A>T (p.Thr2051=)
c.240A>T (p.Thr80=)
c.344A>T
c.6240A>T (p.Thr2080=)
c.6087A>T (p.Thr2029=)
c.5874A>T (p.Thr1958=)
c.6054A>T (p.Thr2018=)
12g.80358766T>ACA385888865OTOGLc.6217T>A (p.Trp2073Arg)
c.157T>A (p.Trp53Arg)
c.6082T>A (p.Trp2028Arg)
c.1518T>A
c.6190T>A (p.Trp2064Arg)
n.473T>A
c.6154T>A (p.Trp2052Arg)
c.241T>A (p.Trp81Arg)
c.345T>A
c.6241T>A (p.Trp2081Arg)
c.6088T>A (p.Trp2030Arg)
c.5875T>A (p.Trp1959Arg)
c.6055T>A (p.Trp2019Arg)
 gnomAD v4
12g.80358766T>CCA240239716OTOGLc.6217T>C (p.Trp2073Arg)
c.157T>C (p.Trp53Arg)
c.6082T>C (p.Trp2028Arg)
c.1518T>C
c.6190T>C (p.Trp2064Arg)
n.473T>C
c.6154T>C (p.Trp2052Arg)
c.241T>C (p.Trp81Arg)
c.345T>C
c.6241T>C (p.Trp2081Arg)
c.6088T>C (p.Trp2030Arg)
c.5875T>C (p.Trp1959Arg)
c.6055T>C (p.Trp2019Arg)
 dbSNP
12g.80358766T>GCA385888864OTOGLc.6217T>G (p.Trp2073Gly)
c.157T>G (p.Trp53Gly)
c.6082T>G (p.Trp2028Gly)
c.1518T>G
c.6190T>G (p.Trp2064Gly)
n.473T>G
c.6154T>G (p.Trp2052Gly)
c.241T>G (p.Trp81Gly)
c.345T>G
c.6241T>G (p.Trp2081Gly)
c.6088T>G (p.Trp2030Gly)
c.5875T>G (p.Trp1959Gly)
c.6055T>G (p.Trp2019Gly)
12g.80358766T=CA2049208520OTOGLc.6217T= (p.Trp2073=)
c.157T= (p.Trp53=)
c.6082T= (p.Trp2028=)
c.1518T=
c.6190T= (p.Trp2064=)
n.473T=
c.6154T= (p.Trp2052=)
c.241T= (p.Trp81=)
c.345T=
c.6241T= (p.Trp2081=)
c.6088T= (p.Trp2030=)
c.5875T= (p.Trp1959=)
c.6055T= (p.Trp2019=)
12g.80358767G>ACA385888867OTOGLc.6218G>A (p.Trp2073Ter)
c.158G>A (p.Trp53Ter)
c.6083G>A (p.Trp2028Ter)
c.1519G>A
c.6191G>A (p.Trp2064Ter)
n.474G>A
c.6155G>A (p.Trp2052Ter)
c.242G>A (p.Trp81Ter)
c.346G>A
c.6242G>A (p.Trp2081Ter)
c.6089G>A (p.Trp2030Ter)
c.5876G>A (p.Trp1959Ter)
c.6056G>A (p.Trp2019Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.80358767G>CCA385888866OTOGLc.6218G>C (p.Trp2073Ser)
c.158G>C (p.Trp53Ser)
c.6083G>C (p.Trp2028Ser)
c.1519G>C
c.6191G>C (p.Trp2064Ser)
n.474G>C
c.6155G>C (p.Trp2052Ser)
c.242G>C (p.Trp81Ser)
c.346G>C
c.6242G>C (p.Trp2081Ser)
c.6089G>C (p.Trp2030Ser)
c.5876G>C (p.Trp1959Ser)
c.6056G>C (p.Trp2019Ser)
12g.80358767G=CA2049208521OTOGLc.6218G= (p.Trp2073=)
c.158G= (p.Trp53=)
c.6083G= (p.Trp2028=)
c.1519G=
c.6191G= (p.Trp2064=)
n.474G=
c.6155G= (p.Trp2052=)
c.242G= (p.Trp81=)
c.346G=
c.6242G= (p.Trp2081=)
c.6089G= (p.Trp2030=)
c.5876G= (p.Trp1959=)
c.6056G= (p.Trp2019=)
12g.80358767G>TCA385888868OTOGLc.6218G>T (p.Trp2073Leu)
c.158G>T (p.Trp53Leu)
c.6083G>T (p.Trp2028Leu)
c.1519G>T
c.6191G>T (p.Trp2064Leu)
n.474G>T
c.6155G>T (p.Trp2052Leu)
c.242G>T (p.Trp81Leu)
c.346G>T
c.6242G>T (p.Trp2081Leu)
c.6089G>T (p.Trp2030Leu)
c.5876G>T (p.Trp1959Leu)
c.6056G>T (p.Trp2019Leu)
12g.80358768G>ACA385888869OTOGLc.6219G>A (p.Trp2073Ter)
c.159G>A (p.Trp53Ter)
c.6084G>A (p.Trp2028Ter)
c.1520G>A
c.6192G>A (p.Trp2064Ter)
n.475G>A
c.6156G>A (p.Trp2052Ter)
c.243G>A (p.Trp81Ter)
c.347G>A
c.6243G>A (p.Trp2081Ter)
c.6090G>A (p.Trp2030Ter)
c.5877G>A (p.Trp1959Ter)
c.6057G>A (p.Trp2019Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.80358768G>CCA385888870OTOGLc.6219G>C (p.Trp2073Cys)
c.159G>C (p.Trp53Cys)
c.6084G>C (p.Trp2028Cys)
c.1520G>C
c.6192G>C (p.Trp2064Cys)
n.475G>C
c.6156G>C (p.Trp2052Cys)
c.243G>C (p.Trp81Cys)
c.347G>C
c.6243G>C (p.Trp2081Cys)
c.6090G>C (p.Trp2030Cys)
c.5877G>C (p.Trp1959Cys)
c.6057G>C (p.Trp2019Cys)
12g.80358768G=CA2049208522OTOGLc.6219G= (p.Trp2073=)
c.159G= (p.Trp53=)
c.6084G= (p.Trp2028=)
c.1520G=
c.6192G= (p.Trp2064=)
n.475G=
c.6156G= (p.Trp2052=)
c.243G= (p.Trp81=)
c.347G=
c.6243G= (p.Trp2081=)
c.6090G= (p.Trp2030=)
c.5877G= (p.Trp1959=)
c.6057G= (p.Trp2019=)
12g.80358768G>TCA385888871OTOGLc.6219G>T (p.Trp2073Cys)
c.159G>T (p.Trp53Cys)
c.6084G>T (p.Trp2028Cys)
c.1520G>T
c.6192G>T (p.Trp2064Cys)
n.475G>T
c.6156G>T (p.Trp2052Cys)
c.243G>T (p.Trp81Cys)
c.347G>T
c.6243G>T (p.Trp2081Cys)
c.6090G>T (p.Trp2030Cys)
c.5877G>T (p.Trp1959Cys)
c.6057G>T (p.Trp2019Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358769C>ACA385888872OTOGLc.6220C>A (p.His2074Asn)
c.160C>A (p.His54Asn)
c.6085C>A (p.His2029Asn)
c.1521C>A
c.6193C>A (p.His2065Asn)
n.476C>A
c.6157C>A (p.His2053Asn)
c.244C>A (p.His82Asn)
c.348C>A
c.6244C>A (p.His2082Asn)
c.6091C>A (p.His2031Asn)
c.5878C>A (p.His1960Asn)
c.6058C>A (p.His2020Asn)
12g.80358769C>GCA385888873OTOGLc.6220C>G (p.His2074Asp)
c.160C>G (p.His54Asp)
c.6085C>G (p.His2029Asp)
c.1521C>G
c.6193C>G (p.His2065Asp)
n.476C>G
c.6157C>G (p.His2053Asp)
c.244C>G (p.His82Asp)
c.348C>G
c.6244C>G (p.His2082Asp)
c.6091C>G (p.His2031Asp)
c.5878C>G (p.His1960Asp)
c.6058C>G (p.His2020Asp)
12g.80358769C>TCA385888874OTOGLc.6220C>T (p.His2074Tyr)
c.160C>T (p.His54Tyr)
c.6085C>T (p.His2029Tyr)
c.1521C>T
c.6193C>T (p.His2065Tyr)
n.476C>T
c.6157C>T (p.His2053Tyr)
c.244C>T (p.His82Tyr)
c.348C>T
c.6244C>T (p.His2082Tyr)
c.6091C>T (p.His2031Tyr)
c.5878C>T (p.His1960Tyr)
c.6058C>T (p.His2020Tyr)
12g.80358770A>CCA385888877OTOGLc.6221A>C (p.His2074Pro)
c.161A>C (p.His54Pro)
c.6086A>C (p.His2029Pro)
c.1522A>C
c.6194A>C (p.His2065Pro)
n.477A>C
c.6158A>C (p.His2053Pro)
c.245A>C (p.His82Pro)
c.349A>C
c.6245A>C (p.His2082Pro)
c.6092A>C (p.His2031Pro)
c.5879A>C (p.His1960Pro)
c.6059A>C (p.His2020Pro)
12g.80358770A>GCA385888875OTOGLc.6221A>G (p.His2074Arg)
c.161A>G (p.His54Arg)
c.6086A>G (p.His2029Arg)
c.1522A>G
c.6194A>G (p.His2065Arg)
n.477A>G
c.6158A>G (p.His2053Arg)
c.245A>G (p.His82Arg)
c.349A>G
c.6245A>G (p.His2082Arg)
c.6092A>G (p.His2031Arg)
c.5879A>G (p.His1960Arg)
c.6059A>G (p.His2020Arg)
12g.80358770A>TCA385888876OTOGLc.6221A>T (p.His2074Leu)
c.161A>T (p.His54Leu)
c.6086A>T (p.His2029Leu)
c.1522A>T
c.6194A>T (p.His2065Leu)
n.477A>T
c.6158A>T (p.His2053Leu)
c.245A>T (p.His82Leu)
c.349A>T
c.6245A>T (p.His2082Leu)
c.6092A>T (p.His2031Leu)
c.5879A>T (p.His1960Leu)
c.6059A>T (p.His2020Leu)

Number of alleles fetched