Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.80358668del | CA2575235836 | OTOGL | c.6122-3del (n.6122-3del) c.62-3del (n.62-3del) c.5987-3del (n.5987-3del) c.1423-3del c.6095-3del (n.6095-3del) n.378-3del c.6059-3del (n.6059-3del) c.146-3del (n.146-3del) c.250-3del c.6146-3del (n.6146-3del) c.5993-3del (n.5993-3del) c.5780-3del (n.5780-3del) c.5960-3del (n.5960-3del) | |
12 | g.80358665T>G | CA2567268549 | OTOGL | c.6122-6T>G (n.6122-6T>G) c.62-6T>G (n.62-6T>G) c.5987-6T>G (n.5987-6T>G) c.1423-6T>G c.6095-6T>G (n.6095-6T>G) n.378-6T>G c.6059-6T>G (n.6059-6T>G) c.146-6T>G (n.146-6T>G) c.250-6T>G c.6146-6T>G (n.6146-6T>G) c.5993-6T>G (n.5993-6T>G) c.5780-6T>G (n.5780-6T>G) c.5960-6T>G (n.5960-6T>G) | |
12 | g.80358666T>C | CA606202883 | OTOGL | c.6122-5T>C (n.6122-5T>C) c.62-5T>C (n.62-5T>C) c.5987-5T>C (n.5987-5T>C) c.1423-5T>C c.6095-5T>C (n.6095-5T>C) n.378-5T>C c.6059-5T>C (n.6059-5T>C) c.146-5T>C (n.146-5T>C) c.250-5T>C c.6146-5T>C (n.6146-5T>C) c.5993-5T>C (n.5993-5T>C) c.5780-5T>C (n.5780-5T>C) c.5960-5T>C (n.5960-5T>C) | dbSNP gnomAD v2 |
12 | g.80358666T= | CA2049208477 | OTOGL | c.6122-5T= (n.6122-5T=) c.62-5T= (n.62-5T=) c.5987-5T= (n.5987-5T=) c.1423-5T= c.6095-5T= (n.6095-5T=) n.378-5T= c.6059-5T= (n.6059-5T=) c.146-5T= (n.146-5T=) c.250-5T= c.6146-5T= (n.6146-5T=) c.5993-5T= (n.5993-5T=) c.5780-5T= (n.5780-5T=) c.5960-5T= (n.5960-5T=) | |
12 | g.80358667T>G | CA2620017096 | OTOGL | c.6122-4T>G (n.6122-4T>G) c.62-4T>G (n.62-4T>G) c.5987-4T>G (n.5987-4T>G) c.1423-4T>G c.6095-4T>G (n.6095-4T>G) n.378-4T>G c.6059-4T>G (n.6059-4T>G) c.146-4T>G (n.146-4T>G) c.250-4T>G c.6146-4T>G (n.6146-4T>G) c.5993-4T>G (n.5993-4T>G) c.5780-4T>G (n.5780-4T>G) c.5960-4T>G (n.5960-4T>G) | gnomAD v4 |
12 | g.80358668T>C | CA2741271051 | OTOGL | c.6122-3T>C (n.6122-3T>C) c.62-3T>C (n.62-3T>C) c.5987-3T>C (n.5987-3T>C) c.1423-3T>C c.6095-3T>C (n.6095-3T>C) n.378-3T>C c.6059-3T>C (n.6059-3T>C) c.146-3T>C (n.146-3T>C) c.250-3T>C c.6146-3T>C (n.6146-3T>C) c.5993-3T>C (n.5993-3T>C) c.5780-3T>C (n.5780-3T>C) c.5960-3T>C (n.5960-3T>C) | |
12 | g.80358669A= | CA2049208478 | OTOGL | c.6122-2A= (n.6122-2A=) c.62-2A= (n.62-2A=) c.5987-2A= (n.5987-2A=) c.1423-2A= c.6095-2A= (n.6095-2A=) n.378-2A= c.6059-2A= (n.6059-2A=) c.146-2A= (n.146-2A=) c.250-2A= c.6146-2A= (n.6146-2A=) c.5993-2A= (n.5993-2A=) c.5780-2A= (n.5780-2A=) c.5960-2A= (n.5960-2A=) | |
12 | g.80358669A>C | CA385888645 | OTOGL | c.6122-2A>C (n.6122-2A>C) c.62-2A>C (n.62-2A>C) c.5987-2A>C (n.5987-2A>C) c.1423-2A>C c.6095-2A>C (n.6095-2A>C) n.378-2A>C c.6059-2A>C (n.6059-2A>C) c.146-2A>C (n.146-2A>C) c.250-2A>C c.6146-2A>C (n.6146-2A>C) c.5993-2A>C (n.5993-2A>C) c.5780-2A>C (n.5780-2A>C) c.5960-2A>C (n.5960-2A>C) | |
12 | g.80358669A>G | CA6701928 | OTOGL | c.6122-2A>G (n.6122-2A>G) c.62-2A>G (n.62-2A>G) c.5987-2A>G (n.5987-2A>G) c.1423-2A>G c.6095-2A>G (n.6095-2A>G) n.378-2A>G c.6059-2A>G (n.6059-2A>G) c.146-2A>G (n.146-2A>G) c.250-2A>G c.6146-2A>G (n.6146-2A>G) c.5993-2A>G (n.5993-2A>G) c.5780-2A>G (n.5780-2A>G) c.5960-2A>G (n.5960-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.80358669A>T | CA385888644 | OTOGL | c.6122-2A>T (n.6122-2A>T) c.62-2A>T (n.62-2A>T) c.5987-2A>T (n.5987-2A>T) c.1423-2A>T c.6095-2A>T (n.6095-2A>T) n.378-2A>T c.6059-2A>T (n.6059-2A>T) c.146-2A>T (n.146-2A>T) c.250-2A>T c.6146-2A>T (n.6146-2A>T) c.5993-2A>T (n.5993-2A>T) c.5780-2A>T (n.5780-2A>T) c.5960-2A>T (n.5960-2A>T) | gnomAD v4 |
12 | g.80358670G>A | CA385888646 | OTOGL | c.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 |
12 | g.80358670G>C | CA240239578 | OTOGL | c.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 |
12 | g.80358670G= | CA2049208479 | OTOGL | c.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=) | |
12 | g.80358670G>T | CA385888647 | OTOGL | c.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) | |
12 | g.80358671T>A | CA385888648 | OTOGL | c.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) | |
12 | g.80358671T>C | CA385888649 | OTOGL | c.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 |
12 | g.80358671T>G | CA385888650 | OTOGL | c.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) | |
12 | g.80358671T= | CA2049208480 | OTOGL | c.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=) | |
12 | g.80358672A= | CA2049208481 | OTOGL | c.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=) | |
12 | g.80358672A>C | CA480822999 | OTOGL | c.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=) | |
12 | g.80358672A>G | CA480823001 | OTOGL | c.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 |
12 | g.80358672A>T | CA480823004 | OTOGL | c.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=) | |
12 | g.80358673T>A | CA385888653 | OTOGL | c.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) | |
12 | g.80358673T>C | CA385888651 | OTOGL | c.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) | |
12 | g.80358673T>G | CA385888652 | OTOGL | c.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) | |
12 | g.80358674G>A | CA385888654 | OTOGL | c.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 |
12 | g.80358674G>C | CA385888655 | OTOGL | c.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) | |
12 | g.80358674G= | CA2049208482 | OTOGL | c.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=) | |
12 | g.80358674G>T | CA385888656 | OTOGL | c.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) | |
12 | g.80358675T>A | CA385888657 | OTOGL | c.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 |
12 | g.80358675T>C | CA480823020 | OTOGL | c.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=) | |
12 | g.80358675T>G | CA385888658 | OTOGL | c.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 |
12 | g.80358676G>A | CA385888659 | OTOGL | c.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) | |
12 | g.80358676G>C | CA385888660 | OTOGL | c.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) | |
12 | g.80358676G>T | CA385888661 | OTOGL | c.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) | |
12 | g.80358677A>C | CA385888662 | OTOGL | c.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) | |
12 | g.80358677A>G | CA385888663 | OTOGL | c.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 |
12 | g.80358677A>T | CA385888664 | OTOGL | c.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) | |
12 | g.80358678A>C | CA385888665 | OTOGL | c.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) | |
12 | g.80358678A>G | CA480823034 | OTOGL | c.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 |
12 | g.80358678A>T | CA385888666 | OTOGL | c.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) | |
12 | g.80358679C>A | CA385888667 | OTOGL | c.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 |
12 | g.80358679C= | CA2049208483 | OTOGL | c.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=) | |
12 | g.80358679C>G | CA385888669 | OTOGL | c.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) | |
12 | g.80358679C>T | CA385888668 | OTOGL | c.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) | |
12 | g.80358680C>A | CA385888670 | OTOGL | c.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) | |
12 | g.80358680C>G | CA385888671 | OTOGL | c.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) | |
12 | g.80358680C>T | CA385888672 | OTOGL | c.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) | |
12 | g.80358681_80358684dup | CA2575235837 | OTOGL | c.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 |
12 | g.80358681A= | CA2049208484 | OTOGL | c.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=) | |
12 | g.80358681A>C | CA480823052 | OTOGL | c.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=) | |
12 | g.80358681A>G | CA480823054 | OTOGL | c.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 |
12 | g.80358681A>T | CA480823056 | OTOGL | c.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=) | |
12 | g.80358682A>C | CA385888673 | OTOGL | c.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) | |
12 | g.80358682A>G | CA385888674 | OTOGL | c.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) | |
12 | g.80358682A>T | CA385888675 | OTOGL | c.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) | |
12 | g.80358683A>C | CA385888676 | OTOGL | c.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) | |
12 | g.80358683A>G | CA385888677 | OTOGL | c.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) | |
12 | g.80358683A>T | CA385888678 | OTOGL | c.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) | |
12 | g.80358684C>A | CA385888679 | OTOGL | c.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 |
12 | g.80358684C= | CA2049208485 | OTOGL | c.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=) | |
12 | g.80358684C>G | CA385888680 | OTOGL | c.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 |
12 | g.80358684C>T | CA240239597 | OTOGL | c.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 |
12 | g.80358685C>A | CA385888683 | OTOGL | c.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) | |
12 | g.80358685C>G | CA385888682 | OTOGL | c.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) | |
12 | g.80358685C>T | CA385888681 | OTOGL | c.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 |
12 | g.80358685_80358686delinsCT | CA2049208486 | OTOGL | c.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=) | |
12 | g.80358686T>A | CA385888684 | OTOGL | c.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) | |
12 | g.80358686T>C | CA385888685 | OTOGL | c.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 |
12 | g.80358686T>G | CA385888686 | OTOGL | c.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 |
12 | g.80358686T= | CA2049208487 | OTOGL | c.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=) | |
12 | g.80358688del | CA240239625 | OTOGL | c.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 |
12 | g.80358687T>A | CA480823086 | OTOGL | c.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=) | |
12 | g.80358687T>C | CA480823087 | OTOGL | c.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=) | |
12 | g.80358687T>G | CA480823089 | OTOGL | c.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=) | |
12 | g.80358688T>A | CA385888687 | OTOGL | c.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) | |
12 | g.80358688T>C | CA6701929 | OTOGL | c.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 |
12 | g.80358688T>G | CA385888688 | OTOGL | c.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 |
12 | g.80358688T= | CA2049208488 | OTOGL | c.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=) | |
12 | g.80358689del | CA2620017097 | OTOGL | c.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 |
12 | g.80358689G>A | CA385888689 | OTOGL | c.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 |
12 | g.80358689G>C | CA385888690 | OTOGL | c.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) | |
12 | g.80358689G>T | CA385888691 | OTOGL | c.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) | |
12 | g.80358690T>A | CA385888692 | OTOGL | c.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) | |
12 | g.80358690T>C | CA480823106 | OTOGL | c.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=) | |
12 | g.80358690T>G | CA385888693 | OTOGL | c.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) | |
12 | g.80358691C>A | CA385888694 | OTOGL | c.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 |
12 | g.80358691C= | CA2049208489 | OTOGL | c.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=) | |
12 | g.80358691C>G | CA385888696 | OTOGL | c.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) | |
12 | g.80358691C>T | CA385888695 | OTOGL | c.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 |
12 | g.80358692C>A | CA385888697 | OTOGL | c.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) | |
12 | g.80358692C= | CA2049208490 | OTOGL | c.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=) | |
12 | g.80358692C>G | CA385888698 | OTOGL | c.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) | |
12 | g.80358692C>T | CA385888699 | OTOGL | c.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 |
12 | g.80358693T>A | CA480823120 | OTOGL | c.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=) | |
12 | g.80358693T>C | CA480823122 | OTOGL | c.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=) | |
12 | g.80358693T>G | CA480823124 | OTOGL | c.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=) | |
12 | g.80358694A= | CA2049208491 | OTOGL | c.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=) | |
12 | g.80358694A>C | CA385888700 | OTOGL | c.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) | |
12 | g.80358694A>G | CA385888701 | OTOGL | c.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 |
12 | g.80358694A>T | CA385888702 | OTOGL | c.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) | |
12 | g.80358695T>A | CA385888705 | OTOGL | c.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) | |
12 | g.80358695T>C | CA385888704 | OTOGL | c.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) | |
12 | g.80358695T>G | CA385888703 | OTOGL | c.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) | |
12 | g.80358696G>A | CA385888706 | OTOGL | c.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 |
12 | g.80358696G>C | CA385888707 | OTOGL | c.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) | |
12 | g.80358696G= | CA2049208492 | OTOGL | c.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=) | |
12 | g.80358696G>T | CA385888708 | OTOGL | c.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) | |
12 | g.80358697C>A | CA385888709 | OTOGL | c.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) | |
12 | g.80358697C>G | CA385888710 | OTOGL | c.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) | |
12 | g.80358697C>T | CA385888711 | OTOGL | c.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 |
12 | g.80358698C>A | CA385888712 | OTOGL | c.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) | |
12 | g.80358698C>G | CA385888714 | OTOGL | c.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) | |
12 | g.80358698C>T | CA385888713 | OTOGL | c.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) | |
12 | g.80358699A= | CA2049208493 | OTOGL | c.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=) | |
12 | g.80358699A>C | CA480823152 | OTOGL | c.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=) | |
12 | g.80358699A>G | CA6701930 | OTOGL | c.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 |
12 | g.80358699A>T | CA480823156 | OTOGL | c.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 |
12 | g.80358700T>A | CA385888715 | OTOGL | c.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) | |
12 | g.80358700T>C | CA480823161 | OTOGL | c.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=) | |
12 | g.80358700T>G | CA385888716 | OTOGL | c.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) | |
12 | g.80358701T>A | CA385888717 | OTOGL | c.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) | |
12 | g.80358701T>C | CA385888718 | OTOGL | c.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 |
12 | g.80358701T>G | CA385888719 | OTOGL | c.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) | |
12 | g.80358702A= | CA2049208494 | OTOGL | c.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=) | |
12 | g.80358702A>C | CA385888720 | OTOGL | c.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) | |
12 | g.80358702A>G | CA480823169 | OTOGL | c.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 |
12 | g.80358702A>T | CA385888721 | OTOGL | c.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) | |
12 | g.80358703C>A | CA385888722 | OTOGL | c.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) | |
12 | g.80358703C= | CA2049208495 | OTOGL | c.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=) | |
12 | g.80358703C>G | CA385888723 | OTOGL | c.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) | |
12 | g.80358703C>T | CA385888724 | OTOGL | c.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 |
12 | g.80358704T>A | CA385888725 | OTOGL | c.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) | |
12 | g.80358704T>C | CA385888727 | OTOGL | c.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) | |
12 | g.80358704T>G | CA385888726 | OTOGL | c.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) | |
12 | g.80358705C>A | CA6701932 | OTOGL | c.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 |
12 | g.80358705C= | CA2049208496 | OTOGL | c.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=) | |
12 | g.80358705C>G | CA480823191 | OTOGL | c.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 |
12 | g.80358705C>T | CA6701931 | OTOGL | c.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 |
12 | g.80358706A>C | CA385888728 | OTOGL | c.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 |
12 | g.80358706A>G | CA385888729 | OTOGL | c.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 |
12 | g.80358706A>T | CA385888730 | OTOGL | c.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 |
12 | g.80358707A>C | CA385888731 | OTOGL | c.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) | |
12 | g.80358707A>G | CA385888732 | OTOGL | c.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 |
12 | g.80358707A>T | CA385888733 | OTOGL | c.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) | |
12 | g.80358708C>A | CA385888734 | OTOGL | c.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) | |
12 | g.80358708C>G | CA385888735 | OTOGL | c.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) | |
12 | g.80358708C>T | CA480823202 | OTOGL | c.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=) | |
12 | g.80358708_80358710delinsCTG | CA2049208497 | OTOGL | c.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=) | |
12 | g.80358709T>A | CA385888738 | OTOGL | c.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) | |
12 | g.80358709T>C | CA385888737 | OTOGL | c.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 |
12 | g.80358709T>G | CA385888736 | OTOGL | c.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) | |
12 | g.80358711_80358712del | CA6701933 | OTOGL | c.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 |
12 | g.80358710del | CA2620017098 | OTOGL | c.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 |
12 | g.80358710G>A | CA385888739 | OTOGL | c.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 |
12 | g.80358710G>C | CA385888740 | OTOGL | c.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) | |
12 | g.80358710G= | CA2049208498 | OTOGL | c.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=) | |
12 | g.80358710G>T | CA240239674 | OTOGL | c.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 |
12 | g.80358711T>A | CA385888741 | OTOGL | c.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) | |
12 | g.80358711T>C | CA480823221 | OTOGL | c.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=) | |
12 | g.80358711T>G | CA385888742 | OTOGL | c.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) | |
12 | g.80358712G>A | CA385888743 | OTOGL | c.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) | |
12 | g.80358712G>C | CA385888744 | OTOGL | c.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) | |
12 | g.80358712G>T | CA385888745 | OTOGL | c.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) | |
12 | g.80358713C>A | CA240239692 | OTOGL | c.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 |
12 | g.80358713C= | CA2049208499 | OTOGL | c.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=) | |
12 | g.80358713C>G | CA385888746 | OTOGL | c.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) | |
12 | g.80358713C>T | CA385888747 | OTOGL | c.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) | |
12 | g.80358714A= | CA2049208500 | OTOGL | c.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=) | |
12 | g.80358714A>C | CA480823237 | OTOGL | c.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=) | |
12 | g.80358714A>G | CA6701934 | OTOGL | c.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 |
12 | g.80358714A>T | CA480823241 | OTOGL | c.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=) | |
12 | g.80358715G>A | CA385888750 | OTOGL | c.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 |
12 | g.80358715G>C | CA385888749 | OTOGL | c.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) | |
12 | g.80358715G>T | CA385888748 | OTOGL | c.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) | |
12 | g.80358716A>C | CA385888751 | OTOGL | c.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) | |
12 | g.80358716A>G | CA385888752 | OTOGL | c.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) | |
12 | g.80358716A>T | CA385888753 | OTOGL | c.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) | |
12 | g.80358717A>C | CA385888754 | OTOGL | c.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) | |
12 | g.80358717A>G | CA480823253 | OTOGL | c.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=) | |
12 | g.80358717A>T | CA385888755 | OTOGL | c.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) | |
12 | g.80358718G>A | CA385888756 | OTOGL | c.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 |
12 | g.80358718G>C | CA385888757 | OTOGL | c.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) | |
12 | g.80358718G>T | CA385888758 | OTOGL | c.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) | |
12 | g.80358719A>C | CA385888759 | OTOGL | c.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) | |
12 | g.80358719A>G | CA385888760 | OTOGL | c.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 |
12 | g.80358719A>T | CA385888761 | OTOGL | c.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) | |
12 | g.80358720T>A | CA385888762 | OTOGL | c.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 |
12 | g.80358720T>C | CA480823269 | OTOGL | c.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=) | |
12 | g.80358720T>G | CA385888763 | OTOGL | c.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) | |
12 | g.80358720T= | CA2049208501 | OTOGL | c.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=) | |
12 | g.80358721A= | CA2049208502 | OTOGL | c.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=) | |
12 | g.80358721A>C | CA385888766 | OTOGL | c.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) | |
12 | g.80358721A>G | CA385888765 | OTOGL | c.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 |
12 | g.80358721A>T | CA385888764 | OTOGL | c.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) | |
12 | g.80358722T>A | CA385888767 | OTOGL | c.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) | |
12 | g.80358722T>C | CA6701935 | OTOGL | c.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 |
12 | g.80358722T>G | CA385888768 | OTOGL | c.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) | |
12 | g.80358722T= | CA2049208503 | OTOGL | c.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=) | |
12 | g.80358723G>A | CA385888769 | OTOGL | c.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) | |
12 | g.80358723G>C | CA385888770 | OTOGL | c.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) | |
12 | g.80358723G>T | CA385888771 | OTOGL | c.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) | |
12 | g.80358724A= | CA2049208504 | OTOGL | c.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=) | |
12 | g.80358724A>C | CA385888772 | OTOGL | c.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) | |
12 | g.80358724A>G | CA240239694 | OTOGL | c.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 |
12 | g.80358724A>T | CA385888773 | OTOGL | c.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) | |
12 | g.80358725A>C | CA385888774 | OTOGL | c.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) | |
12 | g.80358725A>G | CA385888775 | OTOGL | c.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) | |
12 | g.80358725A>T | CA385888776 | OTOGL | c.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) | |
12 | g.80358726T>A | CA385888777 | OTOGL | c.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) | |
12 | g.80358726T>C | CA480823299 | OTOGL | c.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 |
12 | g.80358726T>G | CA385888778 | OTOGL | c.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) | |
12 | g.80358727C>A | CA385888781 | OTOGL | c.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 |
12 | g.80358727C= | CA2049208505 | OTOGL | c.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=) | |
12 | g.80358727C>G | CA385888780 | OTOGL | c.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 |
12 | g.80358727C>T | CA385888779 | OTOGL | c.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) | |
12 | g.80358728T>A | CA385888782 | OTOGL | c.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) | |
12 | g.80358728T>C | CA385888783 | OTOGL | c.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) | |
12 | g.80358728T>G | CA385888784 | OTOGL | c.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) | |
12 | g.80358729T>A | CA480823315 | OTOGL | c.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=) | |
12 | g.80358729T>C | CA480823317 | OTOGL | c.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=) | |
12 | g.80358729T>G | CA480823320 | OTOGL | c.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=) | |
12 | g.80358730G>A | CA385888785 | OTOGL | c.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) | |
12 | g.80358730G>C | CA385888786 | OTOGL | c.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) | |
12 | g.80358730G>T | CA385888787 | OTOGL | c.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) | |
12 | g.80358731T>A | CA385888788 | OTOGL | c.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) | |
12 | g.80358731T>C | CA385888789 | OTOGL | c.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 |
12 | g.80358731T>G | CA385888790 | OTOGL | c.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) | |
12 | g.80358731T= | CA2049208506 | OTOGL | c.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=) | |
12 | g.80358732G>A | CA480823336 | OTOGL | c.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 |
12 | g.80358732G>C | CA480823339 | OTOGL | c.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=) | |
12 | g.80358732G= | CA2049208507 | OTOGL | c.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=) | |
12 | g.80358732G>T | CA480823338 | OTOGL | c.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=) | |
12 | g.80358733A>C | CA385888791 | OTOGL | c.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) | |
12 | g.80358733A>G | CA385888792 | OTOGL | c.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 |
12 | g.80358733A>T | CA385888793 | OTOGL | c.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) | |
12 | g.80358734A>C | CA385888796 | OTOGL | c.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) | |
12 | g.80358734A>G | CA385888795 | OTOGL | c.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 |
12 | g.80358734A>T | CA385888794 | OTOGL | c.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) | |
12 | g.80358735A= | CA2049208508 | OTOGL | c.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=) | |
12 | g.80358735A>C | CA385888797 | OTOGL | c.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 |
12 | g.80358735A>G | CA480823352 | OTOGL | c.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 |
12 | g.80358735A>T | CA385888798 | OTOGL | c.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 |
12 | g.80358736G>A | CA385888799 | OTOGL | c.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) | |
12 | g.80358736G>C | CA385888800 | OTOGL | c.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) | |
12 | g.80358736G>T | CA385888801 | OTOGL | c.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) | |
12 | g.80358737A>C | CA385888802 | OTOGL | c.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) | |
12 | g.80358737A>G | CA385888803 | OTOGL | c.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) | |
12 | g.80358737A>T | CA385888804 | OTOGL | c.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) | |
12 | g.80358738A>C | CA385888805 | OTOGL | c.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) | |
12 | g.80358738A>G | CA480823368 | OTOGL | c.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=) | |
12 | g.80358738A>T | CA385888806 | OTOGL | c.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) | |
12 | g.80358739A>C | CA385888807 | OTOGL | c.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) | |
12 | g.80358739A>G | CA385888808 | OTOGL | c.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) | |
12 | g.80358739A>T | CA385888809 | OTOGL | c.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) | |
12 | g.80358740A>C | CA385888811 | OTOGL | c.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) | |
12 | g.80358740A>G | CA385888812 | OTOGL | c.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 |
12 | g.80358740A>T | CA385888810 | OTOGL | c.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) | |
12 | g.80358741T>A | CA385888813 | OTOGL | c.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 |
12 | g.80358741T>C | CA480823384 | OTOGL | c.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 |
12 | g.80358741T>G | CA385888814 | OTOGL | c.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) | |
12 | g.80358741dup | CA645576086 | OTOGL | c.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 |
12 | g.80358742G>A | CA385888815 | OTOGL | c.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 |
12 | g.80358742G>C | CA385888816 | OTOGL | c.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 |
12 | g.80358742G= | CA2049208509 | OTOGL | c.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=) | |
12 | g.80358742G>T | CA385888817 | OTOGL | c.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) | |
12 | g.80358743T>A | CA385888818 | OTOGL | c.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) | |
12 | g.80358743T>C | CA385888819 | OTOGL | c.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 |
12 | g.80358743T>G | CA385888820 | OTOGL | c.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) | |
12 | g.80358743dup | CA480823394 | OTOGL | c.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) | |
12 | g.80358744A= | CA2049208510 | OTOGL | c.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=) | |
12 | g.80358744A>C | CA480823401 | OTOGL | c.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=) | |
12 | g.80358744A>G | CA480823404 | OTOGL | c.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 |
12 | g.80358744A>T | CA480823407 | OTOGL | c.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=) | |
12 | g.80358745T>A | CA385888821 | OTOGL | c.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) | |
12 | g.80358745T>C | CA385888822 | OTOGL | c.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) | |
12 | g.80358745T>G | CA385888823 | OTOGL | c.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) | |
12 | g.80358745_80358747del | CA2547704669 | OTOGL | c.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) | |
12 | g.80358746C>A | CA385888824 | OTOGL | c.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) | |
12 | g.80358746C= | CA2049208511 | OTOGL | c.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=) | |
12 | g.80358746C>G | CA6701936 | OTOGL | c.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 |
12 | g.80358746C>T | CA385888825 | OTOGL | c.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) | |
12 | g.80358747del | CA2620017099 | OTOGL | c.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 |
12 | g.80358747T>A | CA480823421 | OTOGL | c.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=) | |
12 | g.80358747T>C | CA6701937 | OTOGL | c.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 |
12 | g.80358747T>G | CA480823424 | OTOGL | c.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=) | |
12 | g.80358747T= | CA2049208512 | OTOGL | c.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=) | |
12 | g.80358748G>A | CA385888826 | OTOGL | c.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) | |
12 | g.80358748G>C | CA385888827 | OTOGL | c.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) | |
12 | g.80358748G>T | CA385888828 | OTOGL | c.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) | |
12 | g.80358749G>A | CA385888829 | OTOGL | c.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) | |
12 | g.80358749G>C | CA385888830 | OTOGL | c.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) | |
12 | g.80358749G>T | CA385888831 | OTOGL | c.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) | |
12 | g.80358750T>A | CA480823437 | OTOGL | c.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=) | |
12 | g.80358750T>C | CA480823439 | OTOGL | c.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=) | |
12 | g.80358750T>G | CA240239702 | OTOGL | c.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 |
12 | g.80358750T= | CA2049208513 | OTOGL | c.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=) | |
12 | g.80358751C>A | CA385888832 | OTOGL | c.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 |
12 | g.80358751C>G | CA385888833 | OTOGL | c.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) | |
12 | g.80358751C>T | CA385888834 | OTOGL | c.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) | |
12 | g.80358752A= | CA2049208514 | OTOGL | c.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=) | |
12 | g.80358752A>C | CA385888835 | OTOGL | c.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) | |
12 | g.80358752A>G | CA6701938 | OTOGL | c.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 |
12 | g.80358752A>T | CA385888836 | OTOGL | c.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) | |
12 | g.80358753A= | CA2049208515 | OTOGL | c.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=) | |
12 | g.80358753A>C | CA385888838 | OTOGL | c.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) | |
12 | g.80358753A>G | CA6701939 | OTOGL | c.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 |
12 | g.80358753A>T | CA385888837 | OTOGL | c.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) | |
12 | g.80358754T>A | CA385888839 | OTOGL | c.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) | |
12 | g.80358754T>C | CA385888840 | OTOGL | c.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) | |
12 | g.80358754T>G | CA385888841 | OTOGL | c.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) | |
12 | g.80358755G>A | CA385888842 | OTOGL | c.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 |
12 | g.80358755G>C | CA385888843 | OTOGL | c.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) | |
12 | g.80358755G>T | CA385888844 | OTOGL | c.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) | |
12 | g.80358756T>A | CA385888845 | OTOGL | c.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) | |
12 | g.80358756T>C | CA480823471 | OTOGL | c.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 |
12 | g.80358756T>G | CA385888846 | OTOGL | c.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) | |
12 | g.80358757T>A | CA385888847 | OTOGL | c.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) | |
12 | g.80358757T>C | CA385888848 | OTOGL | c.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 |
12 | g.80358757T>G | CA385888849 | OTOGL | c.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) | |
12 | g.80358758G>A | CA385888850 | OTOGL | c.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 |
12 | g.80358758G>C | CA385888851 | OTOGL | c.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) | |
12 | g.80358758G>T | CA385888852 | OTOGL | c.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) | |
12 | g.80358759C>A | CA385888853 | OTOGL | c.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) | |
12 | g.80358759C>G | CA385888854 | OTOGL | c.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) | |
12 | g.80358759C>T | CA480823487 | OTOGL | c.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 |
12 | g.80358761del | CA2575235838 | OTOGL | c.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) | |
12 | g.80358760C>A | CA385888855 | OTOGL | c.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) | |
12 | g.80358760C= | CA2049208516 | OTOGL | c.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=) | |
12 | g.80358760C>G | CA385888856 | OTOGL | c.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) | |
12 | g.80358760C>T | CA240239709 | OTOGL | c.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 |
12 | g.80358761C>A | CA385888857 | OTOGL | c.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 |
12 | g.80358761C= | CA2049208517 | OTOGL | c.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=) | |
12 | g.80358761C>G | CA385888858 | OTOGL | c.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) | |
12 | g.80358761C>T | CA385888859 | OTOGL | c.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) | |
12 | g.80358762A>C | CA480823502 | OTOGL | c.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=) | |
12 | g.80358762A>G | CA480823504 | OTOGL | c.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=) | |
12 | g.80358762A>T | CA480823507 | OTOGL | c.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=) | |
12 | g.80358763A>C | CA385888860 | OTOGL | c.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) | |
12 | g.80358763A>G | CA385888861 | OTOGL | c.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 |
12 | g.80358763A>T | CA385888862 | OTOGL | c.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) | |
12 | g.80358764C>A | CA385888863 | OTOGL | c.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) | |
12 | g.80358764C= | CA2049208518 | OTOGL | c.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=) | |
12 | g.80358764C>G | CA6701940 | OTOGL | c.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 |
12 | g.80358764C>T | CA240239710 | OTOGL | c.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 |
12 | g.80358765A= | CA2049208519 | OTOGL | c.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=) | |
12 | g.80358765A>C | CA240239711 | OTOGL | c.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 |
12 | g.80358765A>G | CA480823525 | OTOGL | c.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 |
12 | g.80358765A>T | CA480823522 | OTOGL | c.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=) |