Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.80358631C>ACA2575235832OTOGLc.6122-40C>A (n.6122-40C>A)
c.62-40C>A (n.62-40C>A)
c.5987-40C>A (n.5987-40C>A)
c.1423-40C>A
c.6095-40C>A (n.6095-40C>A)
n.378-40C>A
c.6059-40C>A (n.6059-40C>A)
c.146-40C>A (n.146-40C>A)
c.250-40C>A
c.6146-40C>A (n.6146-40C>A)
c.5993-40C>A (n.5993-40C>A)
c.5780-40C>A (n.5780-40C>A)
c.5960-40C>A (n.5960-40C>A)
12g.80358631C=CA2049208459OTOGLc.6122-40C= (n.6122-40C=)
c.62-40C= (n.62-40C=)
c.5987-40C= (n.5987-40C=)
c.1423-40C=
c.6095-40C= (n.6095-40C=)
n.378-40C=
c.6059-40C= (n.6059-40C=)
c.146-40C= (n.146-40C=)
c.250-40C=
c.6146-40C= (n.6146-40C=)
c.5993-40C= (n.5993-40C=)
c.5780-40C= (n.5780-40C=)
c.5960-40C= (n.5960-40C=)
12g.80358631C>GCA6701924OTOGLc.6122-40C>G (n.6122-40C>G)
c.62-40C>G (n.62-40C>G)
c.5987-40C>G (n.5987-40C>G)
c.1423-40C>G
c.6095-40C>G (n.6095-40C>G)
n.378-40C>G
c.6059-40C>G (n.6059-40C>G)
c.146-40C>G (n.146-40C>G)
c.250-40C>G
c.6146-40C>G (n.6146-40C>G)
c.5993-40C>G (n.5993-40C>G)
c.5780-40C>G (n.5780-40C>G)
c.5960-40C>G (n.5960-40C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358631C>TCA655055944OTOGLc.6122-40C>T (n.6122-40C>T)
c.62-40C>T (n.62-40C>T)
c.5987-40C>T (n.5987-40C>T)
c.1423-40C>T
c.6095-40C>T (n.6095-40C>T)
n.378-40C>T
c.6059-40C>T (n.6059-40C>T)
c.146-40C>T (n.146-40C>T)
c.250-40C>T
c.6146-40C>T (n.6146-40C>T)
c.5993-40C>T (n.5993-40C>T)
c.5780-40C>T (n.5780-40C>T)
c.5960-40C>T (n.5960-40C>T)
 COSMIC COSMIC
12g.80358632T>ACA2726355390OTOGLc.6122-39T>A (n.6122-39T>A)
c.62-39T>A (n.62-39T>A)
c.5987-39T>A (n.5987-39T>A)
c.1423-39T>A
c.6095-39T>A (n.6095-39T>A)
n.378-39T>A
c.6059-39T>A (n.6059-39T>A)
c.146-39T>A (n.146-39T>A)
c.250-39T>A
c.6146-39T>A (n.6146-39T>A)
c.5993-39T>A (n.5993-39T>A)
c.5780-39T>A (n.5780-39T>A)
c.5960-39T>A (n.5960-39T>A)
 dbSNP
12g.80358632T>CCA240239550OTOGLc.6122-39T>C (n.6122-39T>C)
c.62-39T>C (n.62-39T>C)
c.5987-39T>C (n.5987-39T>C)
c.1423-39T>C
c.6095-39T>C (n.6095-39T>C)
n.378-39T>C
c.6059-39T>C (n.6059-39T>C)
c.146-39T>C (n.146-39T>C)
c.250-39T>C
c.6146-39T>C (n.6146-39T>C)
c.5993-39T>C (n.5993-39T>C)
c.5780-39T>C (n.5780-39T>C)
c.5960-39T>C (n.5960-39T>C)
 dbSNP gnomAD v4
12g.80358632T=CA2049208460OTOGLc.6122-39T= (n.6122-39T=)
c.62-39T= (n.62-39T=)
c.5987-39T= (n.5987-39T=)
c.1423-39T=
c.6095-39T= (n.6095-39T=)
n.378-39T=
c.6059-39T= (n.6059-39T=)
c.146-39T= (n.146-39T=)
c.250-39T=
c.6146-39T= (n.6146-39T=)
c.5993-39T= (n.5993-39T=)
c.5780-39T= (n.5780-39T=)
c.5960-39T= (n.5960-39T=)
12g.80358634_80358635delCA2575235833OTOGLc.6122-37_6122-36del (n.6122-37_6122-36del)
c.62-37_62-36del (n.62-37_62-36del)
c.5987-37_5987-36del (n.5987-37_5987-36del)
c.1423-37_1423-36del
c.6095-37_6095-36del (n.6095-37_6095-36del)
n.378-37_378-36del
c.6059-37_6059-36del (n.6059-37_6059-36del)
c.146-37_146-36del (n.146-37_146-36del)
c.250-37_250-36del
c.6146-37_6146-36del (n.6146-37_6146-36del)
c.5993-37_5993-36del (n.5993-37_5993-36del)
c.5780-37_5780-36del (n.5780-37_5780-36del)
c.5960-37_5960-36del (n.5960-37_5960-36del)
12g.80358633A>GCA2620017088OTOGLc.6122-38A>G (n.6122-38A>G)
c.62-38A>G (n.62-38A>G)
c.5987-38A>G (n.5987-38A>G)
c.1423-38A>G
c.6095-38A>G (n.6095-38A>G)
n.378-38A>G
c.6059-38A>G (n.6059-38A>G)
c.146-38A>G (n.146-38A>G)
c.250-38A>G
c.6146-38A>G (n.6146-38A>G)
c.5993-38A>G (n.5993-38A>G)
c.5780-38A>G (n.5780-38A>G)
c.5960-38A>G (n.5960-38A>G)
 gnomAD v4
12g.80358634T>CCA2620017089OTOGLc.6122-37T>C (n.6122-37T>C)
c.62-37T>C (n.62-37T>C)
c.5987-37T>C (n.5987-37T>C)
c.1423-37T>C
c.6095-37T>C (n.6095-37T>C)
n.378-37T>C
c.6059-37T>C (n.6059-37T>C)
c.146-37T>C (n.146-37T>C)
c.250-37T>C
c.6146-37T>C (n.6146-37T>C)
c.5993-37T>C (n.5993-37T>C)
c.5780-37T>C (n.5780-37T>C)
c.5960-37T>C (n.5960-37T>C)
 gnomAD v4
12g.80358634T>GCA2575235834OTOGLc.6122-37T>G (n.6122-37T>G)
c.62-37T>G (n.62-37T>G)
c.5987-37T>G (n.5987-37T>G)
c.1423-37T>G
c.6095-37T>G (n.6095-37T>G)
n.378-37T>G
c.6059-37T>G (n.6059-37T>G)
c.146-37T>G (n.146-37T>G)
c.250-37T>G
c.6146-37T>G (n.6146-37T>G)
c.5993-37T>G (n.5993-37T>G)
c.5780-37T>G (n.5780-37T>G)
c.5960-37T>G (n.5960-37T>G)
12g.80358638A=CA2049208461OTOGLc.6122-33A= (n.6122-33A=)
c.62-33A= (n.62-33A=)
c.5987-33A= (n.5987-33A=)
c.1423-33A=
c.6095-33A= (n.6095-33A=)
n.378-33A=
c.6059-33A= (n.6059-33A=)
c.146-33A= (n.146-33A=)
c.250-33A=
c.6146-33A= (n.6146-33A=)
c.5993-33A= (n.5993-33A=)
c.5780-33A= (n.5780-33A=)
c.5960-33A= (n.5960-33A=)
12g.80358638A>TCA692353684OTOGLc.6122-33A>T (n.6122-33A>T)
c.62-33A>T (n.62-33A>T)
c.5987-33A>T (n.5987-33A>T)
c.1423-33A>T
c.6095-33A>T (n.6095-33A>T)
n.378-33A>T
c.6059-33A>T (n.6059-33A>T)
c.146-33A>T (n.146-33A>T)
c.250-33A>T
c.6146-33A>T (n.6146-33A>T)
c.5993-33A>T (n.5993-33A>T)
c.5780-33A>T (n.5780-33A>T)
c.5960-33A>T (n.5960-33A>T)
 dbSNP gnomAD v3 gnomAD v4
12g.80358640T>ACA655055952OTOGLc.6122-31T>A (n.6122-31T>A)
c.62-31T>A (n.62-31T>A)
c.5987-31T>A (n.5987-31T>A)
c.1423-31T>A
c.6095-31T>A (n.6095-31T>A)
n.378-31T>A
c.6059-31T>A (n.6059-31T>A)
c.146-31T>A (n.146-31T>A)
c.250-31T>A
c.6146-31T>A (n.6146-31T>A)
c.5993-31T>A (n.5993-31T>A)
c.5780-31T>A (n.5780-31T>A)
c.5960-31T>A (n.5960-31T>A)
 dbSNP gnomAD v4 COSMIC
12g.80358640T=CA2049208462OTOGLc.6122-31T= (n.6122-31T=)
c.62-31T= (n.62-31T=)
c.5987-31T= (n.5987-31T=)
c.1423-31T=
c.6095-31T= (n.6095-31T=)
n.378-31T=
c.6059-31T= (n.6059-31T=)
c.146-31T= (n.146-31T=)
c.250-31T=
c.6146-31T= (n.6146-31T=)
c.5993-31T= (n.5993-31T=)
c.5780-31T= (n.5780-31T=)
c.5960-31T= (n.5960-31T=)
12g.80358641C>ACA655055953OTOGLc.6122-30C>A (n.6122-30C>A)
c.62-30C>A (n.62-30C>A)
c.5987-30C>A (n.5987-30C>A)
c.1423-30C>A
c.6095-30C>A (n.6095-30C>A)
n.378-30C>A
c.6059-30C>A (n.6059-30C>A)
c.146-30C>A (n.146-30C>A)
c.250-30C>A
c.6146-30C>A (n.6146-30C>A)
c.5993-30C>A (n.5993-30C>A)
c.5780-30C>A (n.5780-30C>A)
c.5960-30C>A (n.5960-30C>A)
 gnomAD v4 COSMIC
12g.80358641C=CA2049208463OTOGLc.6122-30C= (n.6122-30C=)
c.62-30C= (n.62-30C=)
c.5987-30C= (n.5987-30C=)
c.1423-30C=
c.6095-30C= (n.6095-30C=)
n.378-30C=
c.6059-30C= (n.6059-30C=)
c.146-30C= (n.146-30C=)
c.250-30C=
c.6146-30C= (n.6146-30C=)
c.5993-30C= (n.5993-30C=)
c.5780-30C= (n.5780-30C=)
c.5960-30C= (n.5960-30C=)
12g.80358641C>GCA2620017090OTOGLc.6122-30C>G (n.6122-30C>G)
c.62-30C>G (n.62-30C>G)
c.5987-30C>G (n.5987-30C>G)
c.1423-30C>G
c.6095-30C>G (n.6095-30C>G)
n.378-30C>G
c.6059-30C>G (n.6059-30C>G)
c.146-30C>G (n.146-30C>G)
c.250-30C>G
c.6146-30C>G (n.6146-30C>G)
c.5993-30C>G (n.5993-30C>G)
c.5780-30C>G (n.5780-30C>G)
c.5960-30C>G (n.5960-30C>G)
 gnomAD v4
12g.80358641C>TCA6701925OTOGLc.6122-30C>T (n.6122-30C>T)
c.62-30C>T (n.62-30C>T)
c.5987-30C>T (n.5987-30C>T)
c.1423-30C>T
c.6095-30C>T (n.6095-30C>T)
n.378-30C>T
c.6059-30C>T (n.6059-30C>T)
c.146-30C>T (n.146-30C>T)
c.250-30C>T
c.6146-30C>T (n.6146-30C>T)
c.5993-30C>T (n.5993-30C>T)
c.5780-30C>T (n.5780-30C>T)
c.5960-30C>T (n.5960-30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358642A=CA2049208464OTOGLc.6122-29A= (n.6122-29A=)
c.62-29A= (n.62-29A=)
c.5987-29A= (n.5987-29A=)
c.1423-29A=
c.6095-29A= (n.6095-29A=)
n.378-29A=
c.6059-29A= (n.6059-29A=)
c.146-29A= (n.146-29A=)
c.250-29A=
c.6146-29A= (n.6146-29A=)
c.5993-29A= (n.5993-29A=)
c.5780-29A= (n.5780-29A=)
c.5960-29A= (n.5960-29A=)
12g.80358642A>GCA606202865OTOGLc.6122-29A>G (n.6122-29A>G)
c.62-29A>G (n.62-29A>G)
c.5987-29A>G (n.5987-29A>G)
c.1423-29A>G
c.6095-29A>G (n.6095-29A>G)
n.378-29A>G
c.6059-29A>G (n.6059-29A>G)
c.146-29A>G (n.146-29A>G)
c.250-29A>G
c.6146-29A>G (n.6146-29A>G)
c.5993-29A>G (n.5993-29A>G)
c.5780-29A>G (n.5780-29A>G)
c.5960-29A>G (n.5960-29A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358642A>TCA606202867OTOGLc.6122-29A>T (n.6122-29A>T)
c.62-29A>T (n.62-29A>T)
c.5987-29A>T (n.5987-29A>T)
c.1423-29A>T
c.6095-29A>T (n.6095-29A>T)
n.378-29A>T
c.6059-29A>T (n.6059-29A>T)
c.146-29A>T (n.146-29A>T)
c.250-29A>T
c.6146-29A>T (n.6146-29A>T)
c.5993-29A>T (n.5993-29A>T)
c.5780-29A>T (n.5780-29A>T)
c.5960-29A>T (n.5960-29A>T)
 dbSNP gnomAD v2 gnomAD v4
12g.80358644C>ACA2575235835OTOGLc.6122-27C>A (n.6122-27C>A)
c.62-27C>A (n.62-27C>A)
c.5987-27C>A (n.5987-27C>A)
c.1423-27C>A
c.6095-27C>A (n.6095-27C>A)
n.378-27C>A
c.6059-27C>A (n.6059-27C>A)
c.146-27C>A (n.146-27C>A)
c.250-27C>A
c.6146-27C>A (n.6146-27C>A)
c.5993-27C>A (n.5993-27C>A)
c.5780-27C>A (n.5780-27C>A)
c.5960-27C>A (n.5960-27C>A)
12g.80358645T>ACA606202868OTOGLc.6122-26T>A (n.6122-26T>A)
c.62-26T>A (n.62-26T>A)
c.5987-26T>A (n.5987-26T>A)
c.1423-26T>A
c.6095-26T>A (n.6095-26T>A)
n.378-26T>A
c.6059-26T>A (n.6059-26T>A)
c.146-26T>A (n.146-26T>A)
c.250-26T>A
c.6146-26T>A (n.6146-26T>A)
c.5993-26T>A (n.5993-26T>A)
c.5780-26T>A (n.5780-26T>A)
c.5960-26T>A (n.5960-26T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.80358645T=CA2049208465OTOGLc.6122-26T= (n.6122-26T=)
c.62-26T= (n.62-26T=)
c.5987-26T= (n.5987-26T=)
c.1423-26T=
c.6095-26T= (n.6095-26T=)
n.378-26T=
c.6059-26T= (n.6059-26T=)
c.146-26T= (n.146-26T=)
c.250-26T=
c.6146-26T= (n.6146-26T=)
c.5993-26T= (n.5993-26T=)
c.5780-26T= (n.5780-26T=)
c.5960-26T= (n.5960-26T=)
12g.80358648A=CA2049208466OTOGLc.6122-23A= (n.6122-23A=)
c.62-23A= (n.62-23A=)
c.5987-23A= (n.5987-23A=)
c.1423-23A=
c.6095-23A= (n.6095-23A=)
n.378-23A=
c.6059-23A= (n.6059-23A=)
c.146-23A= (n.146-23A=)
c.250-23A=
c.6146-23A= (n.6146-23A=)
c.5993-23A= (n.5993-23A=)
c.5780-23A= (n.5780-23A=)
c.5960-23A= (n.5960-23A=)
12g.80358648A>GCA2049208467OTOGLc.6122-23A>G (n.6122-23A>G)
c.62-23A>G (n.62-23A>G)
c.5987-23A>G (n.5987-23A>G)
c.1423-23A>G
c.6095-23A>G (n.6095-23A>G)
n.378-23A>G
c.6059-23A>G (n.6059-23A>G)
c.146-23A>G (n.146-23A>G)
c.250-23A>G
c.6146-23A>G (n.6146-23A>G)
c.5993-23A>G (n.5993-23A>G)
c.5780-23A>G (n.5780-23A>G)
c.5960-23A>G (n.5960-23A>G)
 dbSNP gnomAD v4
12g.80358648_80358649delinsACCA2049208468OTOGLc.6122-23_6122-22delinsAC (n.6122-23_6122-22delinsAC)
c.62-23_62-22delinsAC (n.62-23_62-22delinsAC)
c.5987-23_5987-22delinsAC (n.5987-23_5987-22delinsAC)
c.1423-23_1423-22delinsAC
c.6095-23_6095-22delinsAC (n.6095-23_6095-22delinsAC)
n.378-23_378-22delinsAC
c.6059-23_6059-22delinsAC (n.6059-23_6059-22delinsAC)
c.146-23_146-22delinsAC (n.146-23_146-22delinsAC)
c.250-23_250-22delinsAC
c.6146-23_6146-22delinsAC (n.6146-23_6146-22delinsAC)
c.5993-23_5993-22delinsAC (n.5993-23_5993-22delinsAC)
c.5780-23_5780-22delinsAC (n.5780-23_5780-22delinsAC)
c.5960-23_5960-22delinsAC (n.5960-23_5960-22delinsAC)
12g.80358649C=CA2049208470OTOGLc.6122-22C= (n.6122-22C=)
c.62-22C= (n.62-22C=)
c.5987-22C= (n.5987-22C=)
c.1423-22C=
c.6095-22C= (n.6095-22C=)
n.378-22C=
c.6059-22C= (n.6059-22C=)
c.146-22C= (n.146-22C=)
c.250-22C=
c.6146-22C= (n.6146-22C=)
c.5993-22C= (n.5993-22C=)
c.5780-22C= (n.5780-22C=)
c.5960-22C= (n.5960-22C=)
12g.80358649C>TCA6701926OTOGLc.6122-22C>T (n.6122-22C>T)
c.62-22C>T (n.62-22C>T)
c.5987-22C>T (n.5987-22C>T)
c.1423-22C>T
c.6095-22C>T (n.6095-22C>T)
n.378-22C>T
c.6059-22C>T (n.6059-22C>T)
c.146-22C>T (n.146-22C>T)
c.250-22C>T
c.6146-22C>T (n.6146-22C>T)
c.5993-22C>T (n.5993-22C>T)
c.5780-22C>T (n.5780-22C>T)
c.5960-22C>T (n.5960-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358651delCA2049208469OTOGLc.6122-20del (n.6122-20del)
c.62-20del (n.62-20del)
c.5987-20del (n.5987-20del)
c.1423-20del
c.6095-20del (n.6095-20del)
n.378-20del
c.6059-20del (n.6059-20del)
c.146-20del (n.146-20del)
c.250-20del
c.6146-20del (n.6146-20del)
c.5993-20del (n.5993-20del)
c.5780-20del (n.5780-20del)
c.5960-20del (n.5960-20del)
 dbSNP
12g.80358650C>ACA2620017091OTOGLc.6122-21C>A (n.6122-21C>A)
c.62-21C>A (n.62-21C>A)
c.5987-21C>A (n.5987-21C>A)
c.1423-21C>A
c.6095-21C>A (n.6095-21C>A)
n.378-21C>A
c.6059-21C>A (n.6059-21C>A)
c.146-21C>A (n.146-21C>A)
c.250-21C>A
c.6146-21C>A (n.6146-21C>A)
c.5993-21C>A (n.5993-21C>A)
c.5780-21C>A (n.5780-21C>A)
c.5960-21C>A (n.5960-21C>A)
 gnomAD v4
12g.80358651C>ACA2620017092OTOGLc.6122-20C>A (n.6122-20C>A)
c.62-20C>A (n.62-20C>A)
c.5987-20C>A (n.5987-20C>A)
c.1423-20C>A
c.6095-20C>A (n.6095-20C>A)
n.378-20C>A
c.6059-20C>A (n.6059-20C>A)
c.146-20C>A (n.146-20C>A)
c.250-20C>A
c.6146-20C>A (n.6146-20C>A)
c.5993-20C>A (n.5993-20C>A)
c.5780-20C>A (n.5780-20C>A)
c.5960-20C>A (n.5960-20C>A)
 gnomAD v4
12g.80358651C=CA2049208471OTOGLc.6122-20C= (n.6122-20C=)
c.62-20C= (n.62-20C=)
c.5987-20C= (n.5987-20C=)
c.1423-20C=
c.6095-20C= (n.6095-20C=)
n.378-20C=
c.6059-20C= (n.6059-20C=)
c.146-20C= (n.146-20C=)
c.250-20C=
c.6146-20C= (n.6146-20C=)
c.5993-20C= (n.5993-20C=)
c.5780-20C= (n.5780-20C=)
c.5960-20C= (n.5960-20C=)
12g.80358651C>TCA2049208472OTOGLc.6122-20C>T (n.6122-20C>T)
c.62-20C>T (n.62-20C>T)
c.5987-20C>T (n.5987-20C>T)
c.1423-20C>T
c.6095-20C>T (n.6095-20C>T)
n.378-20C>T
c.6059-20C>T (n.6059-20C>T)
c.146-20C>T (n.146-20C>T)
c.250-20C>T
c.6146-20C>T (n.6146-20C>T)
c.5993-20C>T (n.5993-20C>T)
c.5780-20C>T (n.5780-20C>T)
c.5960-20C>T (n.5960-20C>T)
 dbSNP gnomAD v4
12g.80358652A=CA2049208473OTOGLc.6122-19A= (n.6122-19A=)
c.62-19A= (n.62-19A=)
c.5987-19A= (n.5987-19A=)
c.1423-19A=
c.6095-19A= (n.6095-19A=)
n.378-19A=
c.6059-19A= (n.6059-19A=)
c.146-19A= (n.146-19A=)
c.250-19A=
c.6146-19A= (n.6146-19A=)
c.5993-19A= (n.5993-19A=)
c.5780-19A= (n.5780-19A=)
c.5960-19A= (n.5960-19A=)
12g.80358652A>GCA606202870OTOGLc.6122-19A>G (n.6122-19A>G)
c.62-19A>G (n.62-19A>G)
c.5987-19A>G (n.5987-19A>G)
c.1423-19A>G
c.6095-19A>G (n.6095-19A>G)
n.378-19A>G
c.6059-19A>G (n.6059-19A>G)
c.146-19A>G (n.146-19A>G)
c.250-19A>G
c.6146-19A>G (n.6146-19A>G)
c.5993-19A>G (n.5993-19A>G)
c.5780-19A>G (n.5780-19A>G)
c.5960-19A>G (n.5960-19A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.80358653T>CCA2620017093OTOGLc.6122-18T>C (n.6122-18T>C)
c.62-18T>C (n.62-18T>C)
c.5987-18T>C (n.5987-18T>C)
c.1423-18T>C
c.6095-18T>C (n.6095-18T>C)
n.378-18T>C
c.6059-18T>C (n.6059-18T>C)
c.146-18T>C (n.146-18T>C)
c.250-18T>C
c.6146-18T>C (n.6146-18T>C)
c.5993-18T>C (n.5993-18T>C)
c.5780-18T>C (n.5780-18T>C)
c.5960-18T>C (n.5960-18T>C)
 gnomAD v4
12g.80358654G>ACA606202873OTOGLc.6122-17G>A (n.6122-17G>A)
c.62-17G>A (n.62-17G>A)
c.5987-17G>A (n.5987-17G>A)
c.1423-17G>A
c.6095-17G>A (n.6095-17G>A)
n.378-17G>A
c.6059-17G>A (n.6059-17G>A)
c.146-17G>A (n.146-17G>A)
c.250-17G>A
c.6146-17G>A (n.6146-17G>A)
c.5993-17G>A (n.5993-17G>A)
c.5780-17G>A (n.5780-17G>A)
c.5960-17G>A (n.5960-17G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.80358654G>CCA606202876OTOGLc.6122-17G>C (n.6122-17G>C)
c.62-17G>C (n.62-17G>C)
c.5987-17G>C (n.5987-17G>C)
c.1423-17G>C
c.6095-17G>C (n.6095-17G>C)
n.378-17G>C
c.6059-17G>C (n.6059-17G>C)
c.146-17G>C (n.146-17G>C)
c.250-17G>C
c.6146-17G>C (n.6146-17G>C)
c.5993-17G>C (n.5993-17G>C)
c.5780-17G>C (n.5780-17G>C)
c.5960-17G>C (n.5960-17G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358654G=CA2049208474OTOGLc.6122-17G= (n.6122-17G=)
c.62-17G= (n.62-17G=)
c.5987-17G= (n.5987-17G=)
c.1423-17G=
c.6095-17G= (n.6095-17G=)
n.378-17G=
c.6059-17G= (n.6059-17G=)
c.146-17G= (n.146-17G=)
c.250-17G=
c.6146-17G= (n.6146-17G=)
c.5993-17G= (n.5993-17G=)
c.5780-17G= (n.5780-17G=)
c.5960-17G= (n.5960-17G=)
12g.80358654G>TCA2620017094OTOGLc.6122-17G>T (n.6122-17G>T)
c.62-17G>T (n.62-17G>T)
c.5987-17G>T (n.5987-17G>T)
c.1423-17G>T
c.6095-17G>T (n.6095-17G>T)
n.378-17G>T
c.6059-17G>T (n.6059-17G>T)
c.146-17G>T (n.146-17G>T)
c.250-17G>T
c.6146-17G>T (n.6146-17G>T)
c.5993-17G>T (n.5993-17G>T)
c.5780-17G>T (n.5780-17G>T)
c.5960-17G>T (n.5960-17G>T)
 gnomAD v4
12g.80358663C>ACA6701927OTOGLc.6122-8C>A (n.6122-8C>A)
c.62-8C>A (n.62-8C>A)
c.5987-8C>A (n.5987-8C>A)
c.1423-8C>A
c.6095-8C>A (n.6095-8C>A)
n.378-8C>A
c.6059-8C>A (n.6059-8C>A)
c.146-8C>A (n.146-8C>A)
c.250-8C>A
c.6146-8C>A (n.6146-8C>A)
c.5993-8C>A (n.5993-8C>A)
c.5780-8C>A (n.5780-8C>A)
c.5960-8C>A (n.5960-8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358663C=CA2049208475OTOGLc.6122-8C= (n.6122-8C=)
c.62-8C= (n.62-8C=)
c.5987-8C= (n.5987-8C=)
c.1423-8C=
c.6095-8C= (n.6095-8C=)
n.378-8C=
c.6059-8C= (n.6059-8C=)
c.146-8C= (n.146-8C=)
c.250-8C=
c.6146-8C= (n.6146-8C=)
c.5993-8C= (n.5993-8C=)
c.5780-8C= (n.5780-8C=)
c.5960-8C= (n.5960-8C=)
12g.80358663C>TCA2620017095OTOGLc.6122-8C>T (n.6122-8C>T)
c.62-8C>T (n.62-8C>T)
c.5987-8C>T (n.5987-8C>T)
c.1423-8C>T
c.6095-8C>T (n.6095-8C>T)
n.378-8C>T
c.6059-8C>T (n.6059-8C>T)
c.146-8C>T (n.146-8C>T)
c.250-8C>T
c.6146-8C>T (n.6146-8C>T)
c.5993-8C>T (n.5993-8C>T)
c.5780-8C>T (n.5780-8C>T)
c.5960-8C>T (n.5960-8C>T)
 gnomAD v4
12g.80358664T>CCA606202881OTOGLc.6122-7T>C (n.6122-7T>C)
c.62-7T>C (n.62-7T>C)
c.5987-7T>C (n.5987-7T>C)
c.1423-7T>C
c.6095-7T>C (n.6095-7T>C)
n.378-7T>C
c.6059-7T>C (n.6059-7T>C)
c.146-7T>C (n.146-7T>C)
c.250-7T>C
c.6146-7T>C (n.6146-7T>C)
c.5993-7T>C (n.5993-7T>C)
c.5780-7T>C (n.5780-7T>C)
c.5960-7T>C (n.5960-7T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358664T=CA2049208476OTOGLc.6122-7T= (n.6122-7T=)
c.62-7T= (n.62-7T=)
c.5987-7T= (n.5987-7T=)
c.1423-7T=
c.6095-7T= (n.6095-7T=)
n.378-7T=
c.6059-7T= (n.6059-7T=)
c.146-7T= (n.146-7T=)
c.250-7T=
c.6146-7T= (n.6146-7T=)
c.5993-7T= (n.5993-7T=)
c.5780-7T= (n.5780-7T=)
c.5960-7T= (n.5960-7T=)
12g.80358668delCA2575235836OTOGLc.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)
12g.80358665T>GCA2567268549OTOGLc.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)
12g.80358666T>CCA606202883OTOGLc.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
12g.80358666T=CA2049208477OTOGLc.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=)
12g.80358667T>GCA2620017096OTOGLc.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
12g.80358668T>CCA2741271051OTOGLc.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)
12g.80358669A=CA2049208478OTOGLc.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=)
12g.80358669A>CCA385888645OTOGLc.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)
12g.80358669A>GCA6701928OTOGLc.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
12g.80358669A>TCA385888644OTOGLc.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
12g.80358670G>ACA385888646OTOGLc.6122-1G>A (n.6122-1G>A)
c.62-1G>A (n.62-1G>A)
c.5987-1G>A (n.5987-1G>A)
c.1423-1G>A
c.6095-1G>A (n.6095-1G>A)
n.378-1G>A
c.6059-1G>A (n.6059-1G>A)
c.146-1G>A (n.146-1G>A)
c.250-1G>A
c.6146-1G>A (n.6146-1G>A)
c.5993-1G>A (n.5993-1G>A)
c.5780-1G>A (n.5780-1G>A)
c.5960-1G>A (n.5960-1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.80358670G>CCA240239578OTOGLc.6122-1G>C (n.6122-1G>C)
c.62-1G>C (n.62-1G>C)
c.5987-1G>C (n.5987-1G>C)
c.1423-1G>C
c.6095-1G>C (n.6095-1G>C)
n.378-1G>C
c.6059-1G>C (n.6059-1G>C)
c.146-1G>C (n.146-1G>C)
c.250-1G>C
c.6146-1G>C (n.6146-1G>C)
c.5993-1G>C (n.5993-1G>C)
c.5780-1G>C (n.5780-1G>C)
c.5960-1G>C (n.5960-1G>C)
 dbSNP
12g.80358670G=CA2049208479OTOGLc.6122-1G= (n.6122-1G=)
c.62-1G= (n.62-1G=)
c.5987-1G= (n.5987-1G=)
c.1423-1G=
c.6095-1G= (n.6095-1G=)
n.378-1G=
c.6059-1G= (n.6059-1G=)
c.146-1G= (n.146-1G=)
c.250-1G=
c.6146-1G= (n.6146-1G=)
c.5993-1G= (n.5993-1G=)
c.5780-1G= (n.5780-1G=)
c.5960-1G= (n.5960-1G=)
12g.80358670G>TCA385888647OTOGLc.6122-1G>T (n.6122-1G>T)
c.62-1G>T (n.62-1G>T)
c.5987-1G>T (n.5987-1G>T)
c.1423-1G>T
c.6095-1G>T (n.6095-1G>T)
n.378-1G>T
c.6059-1G>T (n.6059-1G>T)
c.146-1G>T (n.146-1G>T)
c.250-1G>T
c.6146-1G>T (n.6146-1G>T)
c.5993-1G>T (n.5993-1G>T)
c.5780-1G>T (n.5780-1G>T)
c.5960-1G>T (n.5960-1G>T)
12g.80358671T>ACA385888648OTOGLc.6122T>A (p.Val2041Glu)
c.62T>A (p.Val21Glu)
c.5987T>A (p.Val1996Glu)
c.1423T>A
c.6095T>A (p.Val2032Glu)
n.378T>A
c.6059T>A (p.Val2020Glu)
c.146T>A (p.Val49Glu)
c.250T>A
c.6146T>A (p.Val2049Glu)
c.5993T>A (p.Val1998Glu)
c.5780T>A (p.Val1927Glu)
c.5960T>A (p.Val1987Glu)
12g.80358671T>CCA385888649OTOGLc.6122T>C (p.Val2041Ala)
c.62T>C (p.Val21Ala)
c.5987T>C (p.Val1996Ala)
c.1423T>C
c.6095T>C (p.Val2032Ala)
n.378T>C
c.6059T>C (p.Val2020Ala)
c.146T>C (p.Val49Ala)
c.250T>C
c.6146T>C (p.Val2049Ala)
c.5993T>C (p.Val1998Ala)
c.5780T>C (p.Val1927Ala)
c.5960T>C (p.Val1987Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.80358671T>GCA385888650OTOGLc.6122T>G (p.Val2041Gly)
c.62T>G (p.Val21Gly)
c.5987T>G (p.Val1996Gly)
c.1423T>G
c.6095T>G (p.Val2032Gly)
n.378T>G
c.6059T>G (p.Val2020Gly)
c.146T>G (p.Val49Gly)
c.250T>G
c.6146T>G (p.Val2049Gly)
c.5993T>G (p.Val1998Gly)
c.5780T>G (p.Val1927Gly)
c.5960T>G (p.Val1987Gly)
12g.80358671T=CA2049208480OTOGLc.6122T= (p.Val2041=)
c.62T= (p.Val21=)
c.5987T= (p.Val1996=)
c.1423T=
c.6095T= (p.Val2032=)
n.378T=
c.6059T= (p.Val2020=)
c.146T= (p.Val49=)
c.250T=
c.6146T= (p.Val2049=)
c.5993T= (p.Val1998=)
c.5780T= (p.Val1927=)
c.5960T= (p.Val1987=)
12g.80358672A=CA2049208481OTOGLc.6123A= (p.Val2041=)
c.63A= (p.Val21=)
c.5988A= (p.Val1996=)
c.1424A=
c.6096A= (p.Val2032=)
n.379A=
c.6060A= (p.Val2020=)
c.147A= (p.Val49=)
c.251A=
c.6147A= (p.Val2049=)
c.5994A= (p.Val1998=)
c.5781A= (p.Val1927=)
c.5961A= (p.Val1987=)
12g.80358672A>CCA480822999OTOGLc.6123A>C (p.Val2041=)
c.63A>C (p.Val21=)
c.5988A>C (p.Val1996=)
c.1424A>C
c.6096A>C (p.Val2032=)
n.379A>C
c.6060A>C (p.Val2020=)
c.147A>C (p.Val49=)
c.251A>C
c.6147A>C (p.Val2049=)
c.5994A>C (p.Val1998=)
c.5781A>C (p.Val1927=)
c.5961A>C (p.Val1987=)
12g.80358672A>GCA480823001OTOGLc.6123A>G (p.Val2041=)
c.63A>G (p.Val21=)
c.5988A>G (p.Val1996=)
c.1424A>G
c.6096A>G (p.Val2032=)
n.379A>G
c.6060A>G (p.Val2020=)
c.147A>G (p.Val49=)
c.251A>G
c.6147A>G (p.Val2049=)
c.5994A>G (p.Val1998=)
c.5781A>G (p.Val1927=)
c.5961A>G (p.Val1987=)
 dbSNP gnomAD v2 gnomAD v4
12g.80358672A>TCA480823004OTOGLc.6123A>T (p.Val2041=)
c.63A>T (p.Val21=)
c.5988A>T (p.Val1996=)
c.1424A>T
c.6096A>T (p.Val2032=)
n.379A>T
c.6060A>T (p.Val2020=)
c.147A>T (p.Val49=)
c.251A>T
c.6147A>T (p.Val2049=)
c.5994A>T (p.Val1998=)
c.5781A>T (p.Val1927=)
c.5961A>T (p.Val1987=)
12g.80358673T>ACA385888653OTOGLc.6124T>A (p.Cys2042Ser)
c.64T>A (p.Cys22Ser)
c.5989T>A (p.Cys1997Ser)
c.1425T>A
c.6097T>A (p.Cys2033Ser)
n.380T>A
c.6061T>A (p.Cys2021Ser)
c.148T>A (p.Cys50Ser)
c.252T>A
c.6148T>A (p.Cys2050Ser)
c.5995T>A (p.Cys1999Ser)
c.5782T>A (p.Cys1928Ser)
c.5962T>A (p.Cys1988Ser)
12g.80358673T>CCA385888651OTOGLc.6124T>C (p.Cys2042Arg)
c.64T>C (p.Cys22Arg)
c.5989T>C (p.Cys1997Arg)
c.1425T>C
c.6097T>C (p.Cys2033Arg)
n.380T>C
c.6061T>C (p.Cys2021Arg)
c.148T>C (p.Cys50Arg)
c.252T>C
c.6148T>C (p.Cys2050Arg)
c.5995T>C (p.Cys1999Arg)
c.5782T>C (p.Cys1928Arg)
c.5962T>C (p.Cys1988Arg)
12g.80358673T>GCA385888652OTOGLc.6124T>G (p.Cys2042Gly)
c.64T>G (p.Cys22Gly)
c.5989T>G (p.Cys1997Gly)
c.1425T>G
c.6097T>G (p.Cys2033Gly)
n.380T>G
c.6061T>G (p.Cys2021Gly)
c.148T>G (p.Cys50Gly)
c.252T>G
c.6148T>G (p.Cys2050Gly)
c.5995T>G (p.Cys1999Gly)
c.5782T>G (p.Cys1928Gly)
c.5962T>G (p.Cys1988Gly)
12g.80358674G>ACA385888654OTOGLc.6125G>A (p.Cys2042Tyr)
c.65G>A (p.Cys22Tyr)
c.5990G>A (p.Cys1997Tyr)
c.1426G>A
c.6098G>A (p.Cys2033Tyr)
n.381G>A
c.6062G>A (p.Cys2021Tyr)
c.149G>A (p.Cys50Tyr)
c.253G>A
c.6149G>A (p.Cys2050Tyr)
c.5996G>A (p.Cys1999Tyr)
c.5783G>A (p.Cys1928Tyr)
c.5963G>A (p.Cys1988Tyr)
 dbSNP gnomAD v3 gnomAD v4
12g.80358674G>CCA385888655OTOGLc.6125G>C (p.Cys2042Ser)
c.65G>C (p.Cys22Ser)
c.5990G>C (p.Cys1997Ser)
c.1426G>C
c.6098G>C (p.Cys2033Ser)
n.381G>C
c.6062G>C (p.Cys2021Ser)
c.149G>C (p.Cys50Ser)
c.253G>C
c.6149G>C (p.Cys2050Ser)
c.5996G>C (p.Cys1999Ser)
c.5783G>C (p.Cys1928Ser)
c.5963G>C (p.Cys1988Ser)
12g.80358674G=CA2049208482OTOGLc.6125G= (p.Cys2042=)
c.65G= (p.Cys22=)
c.5990G= (p.Cys1997=)
c.1426G=
c.6098G= (p.Cys2033=)
n.381G=
c.6062G= (p.Cys2021=)
c.149G= (p.Cys50=)
c.253G=
c.6149G= (p.Cys2050=)
c.5996G= (p.Cys1999=)
c.5783G= (p.Cys1928=)
c.5963G= (p.Cys1988=)
12g.80358674G>TCA385888656OTOGLc.6125G>T (p.Cys2042Phe)
c.65G>T (p.Cys22Phe)
c.5990G>T (p.Cys1997Phe)
c.1426G>T
c.6098G>T (p.Cys2033Phe)
n.381G>T
c.6062G>T (p.Cys2021Phe)
c.149G>T (p.Cys50Phe)
c.253G>T
c.6149G>T (p.Cys2050Phe)
c.5996G>T (p.Cys1999Phe)
c.5783G>T (p.Cys1928Phe)
c.5963G>T (p.Cys1988Phe)
12g.80358675T>ACA385888657OTOGLc.6126T>A (p.Cys2042Ter)
c.66T>A (p.Cys22Ter)
c.5991T>A (p.Cys1997Ter)
c.1427T>A
c.6099T>A (p.Cys2033Ter)
n.382T>A
c.6063T>A (p.Cys2021Ter)
c.150T>A (p.Cys50Ter)
c.254T>A
c.6150T>A (p.Cys2050Ter)
c.5997T>A (p.Cys1999Ter)
c.5784T>A (p.Cys1928Ter)
c.5964T>A (p.Cys1988Ter)
 gnomAD v3 gnomAD v4
12g.80358675T>CCA480823020OTOGLc.6126T>C (p.Cys2042=)
c.66T>C (p.Cys22=)
c.5991T>C (p.Cys1997=)
c.1427T>C
c.6099T>C (p.Cys2033=)
n.382T>C
c.6063T>C (p.Cys2021=)
c.150T>C (p.Cys50=)
c.254T>C
c.6150T>C (p.Cys2050=)
c.5997T>C (p.Cys1999=)
c.5784T>C (p.Cys1928=)
c.5964T>C (p.Cys1988=)
12g.80358675T>GCA385888658OTOGLc.6126T>G (p.Cys2042Trp)
c.66T>G (p.Cys22Trp)
c.5991T>G (p.Cys1997Trp)
c.1427T>G
c.6099T>G (p.Cys2033Trp)
n.382T>G
c.6063T>G (p.Cys2021Trp)
c.150T>G (p.Cys50Trp)
c.254T>G
c.6150T>G (p.Cys2050Trp)
c.5997T>G (p.Cys1999Trp)
c.5784T>G (p.Cys1928Trp)
c.5964T>G (p.Cys1988Trp)
 gnomAD v4
12g.80358676G>ACA385888659OTOGLc.6127G>A (p.Glu2043Lys)
c.67G>A (p.Glu23Lys)
c.5992G>A (p.Glu1998Lys)
c.1428G>A
c.6100G>A (p.Glu2034Lys)
n.383G>A
c.6064G>A (p.Glu2022Lys)
c.151G>A (p.Glu51Lys)
c.255G>A
c.6151G>A (p.Glu2051Lys)
c.5998G>A (p.Glu2000Lys)
c.5785G>A (p.Glu1929Lys)
c.5965G>A (p.Glu1989Lys)
12g.80358676G>CCA385888660OTOGLc.6127G>C (p.Glu2043Gln)
c.67G>C (p.Glu23Gln)
c.5992G>C (p.Glu1998Gln)
c.1428G>C
c.6100G>C (p.Glu2034Gln)
n.383G>C
c.6064G>C (p.Glu2022Gln)
c.151G>C (p.Glu51Gln)
c.255G>C
c.6151G>C (p.Glu2051Gln)
c.5998G>C (p.Glu2000Gln)
c.5785G>C (p.Glu1929Gln)
c.5965G>C (p.Glu1989Gln)
12g.80358676G>TCA385888661OTOGLc.6127G>T (p.Glu2043Ter)
c.67G>T (p.Glu23Ter)
c.5992G>T (p.Glu1998Ter)
c.1428G>T
c.6100G>T (p.Glu2034Ter)
n.383G>T
c.6064G>T (p.Glu2022Ter)
c.151G>T (p.Glu51Ter)
c.255G>T
c.6151G>T (p.Glu2051Ter)
c.5998G>T (p.Glu2000Ter)
c.5785G>T (p.Glu1929Ter)
c.5965G>T (p.Glu1989Ter)
12g.80358677A>CCA385888662OTOGLc.6128A>C (p.Glu2043Ala)
c.68A>C (p.Glu23Ala)
c.5993A>C (p.Glu1998Ala)
c.1429A>C
c.6101A>C (p.Glu2034Ala)
n.384A>C
c.6065A>C (p.Glu2022Ala)
c.152A>C (p.Glu51Ala)
c.256A>C
c.6152A>C (p.Glu2051Ala)
c.5999A>C (p.Glu2000Ala)
c.5786A>C (p.Glu1929Ala)
c.5966A>C (p.Glu1989Ala)
12g.80358677A>GCA385888663OTOGLc.6128A>G (p.Glu2043Gly)
c.68A>G (p.Glu23Gly)
c.5993A>G (p.Glu1998Gly)
c.1429A>G
c.6101A>G (p.Glu2034Gly)
n.384A>G
c.6065A>G (p.Glu2022Gly)
c.152A>G (p.Glu51Gly)
c.256A>G
c.6152A>G (p.Glu2051Gly)
c.5999A>G (p.Glu2000Gly)
c.5786A>G (p.Glu1929Gly)
c.5966A>G (p.Glu1989Gly)
 gnomAD v3 gnomAD v4
12g.80358677A>TCA385888664OTOGLc.6128A>T (p.Glu2043Val)
c.68A>T (p.Glu23Val)
c.5993A>T (p.Glu1998Val)
c.1429A>T
c.6101A>T (p.Glu2034Val)
n.384A>T
c.6065A>T (p.Glu2022Val)
c.152A>T (p.Glu51Val)
c.256A>T
c.6152A>T (p.Glu2051Val)
c.5999A>T (p.Glu2000Val)
c.5786A>T (p.Glu1929Val)
c.5966A>T (p.Glu1989Val)
12g.80358678A>CCA385888665OTOGLc.6129A>C (p.Glu2043Asp)
c.69A>C (p.Glu23Asp)
c.5994A>C (p.Glu1998Asp)
c.1430A>C
c.6102A>C (p.Glu2034Asp)
n.385A>C
c.6066A>C (p.Glu2022Asp)
c.153A>C (p.Glu51Asp)
c.257A>C
c.6153A>C (p.Glu2051Asp)
c.6000A>C (p.Glu2000Asp)
c.5787A>C (p.Glu1929Asp)
c.5967A>C (p.Glu1989Asp)
12g.80358678A>GCA480823034OTOGLc.6129A>G (p.Glu2043=)
c.69A>G (p.Glu23=)
c.5994A>G (p.Glu1998=)
c.1430A>G
c.6102A>G (p.Glu2034=)
n.385A>G
c.6066A>G (p.Glu2022=)
c.153A>G (p.Glu51=)
c.257A>G
c.6153A>G (p.Glu2051=)
c.6000A>G (p.Glu2000=)
c.5787A>G (p.Glu1929=)
c.5967A>G (p.Glu1989=)
 dbSNP
12g.80358678A>TCA385888666OTOGLc.6129A>T (p.Glu2043Asp)
c.69A>T (p.Glu23Asp)
c.5994A>T (p.Glu1998Asp)
c.1430A>T
c.6102A>T (p.Glu2034Asp)
n.385A>T
c.6066A>T (p.Glu2022Asp)
c.153A>T (p.Glu51Asp)
c.257A>T
c.6153A>T (p.Glu2051Asp)
c.6000A>T (p.Glu2000Asp)
c.5787A>T (p.Glu1929Asp)
c.5967A>T (p.Glu1989Asp)
12g.80358679C>ACA385888667OTOGLc.6130C>A (p.Pro2044Thr)
c.70C>A (p.Pro24Thr)
c.5995C>A (p.Pro1999Thr)
c.1431C>A
c.6103C>A (p.Pro2035Thr)
n.386C>A
c.6067C>A (p.Pro2023Thr)
c.154C>A (p.Pro52Thr)
c.258C>A
c.6154C>A (p.Pro2052Thr)
c.6001C>A (p.Pro2001Thr)
c.5788C>A (p.Pro1930Thr)
c.5968C>A (p.Pro1990Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.80358679C=CA2049208483OTOGLc.6130C= (p.Pro2044=)
c.70C= (p.Pro24=)
c.5995C= (p.Pro1999=)
c.1431C=
c.6103C= (p.Pro2035=)
n.386C=
c.6067C= (p.Pro2023=)
c.154C= (p.Pro52=)
c.258C=
c.6154C= (p.Pro2052=)
c.6001C= (p.Pro2001=)
c.5788C= (p.Pro1930=)
c.5968C= (p.Pro1990=)
12g.80358679C>GCA385888669OTOGLc.6130C>G (p.Pro2044Ala)
c.70C>G (p.Pro24Ala)
c.5995C>G (p.Pro1999Ala)
c.1431C>G
c.6103C>G (p.Pro2035Ala)
n.386C>G
c.6067C>G (p.Pro2023Ala)
c.154C>G (p.Pro52Ala)
c.258C>G
c.6154C>G (p.Pro2052Ala)
c.6001C>G (p.Pro2001Ala)
c.5788C>G (p.Pro1930Ala)
c.5968C>G (p.Pro1990Ala)
12g.80358679C>TCA385888668OTOGLc.6130C>T (p.Pro2044Ser)
c.70C>T (p.Pro24Ser)
c.5995C>T (p.Pro1999Ser)
c.1431C>T
c.6103C>T (p.Pro2035Ser)
n.386C>T
c.6067C>T (p.Pro2023Ser)
c.154C>T (p.Pro52Ser)
c.258C>T
c.6154C>T (p.Pro2052Ser)
c.6001C>T (p.Pro2001Ser)
c.5788C>T (p.Pro1930Ser)
c.5968C>T (p.Pro1990Ser)
12g.80358680C>ACA385888670OTOGLc.6131C>A (p.Pro2044Gln)
c.71C>A (p.Pro24Gln)
c.5996C>A (p.Pro1999Gln)
c.1432C>A
c.6104C>A (p.Pro2035Gln)
n.387C>A
c.6068C>A (p.Pro2023Gln)
c.155C>A (p.Pro52Gln)
c.259C>A
c.6155C>A (p.Pro2052Gln)
c.6002C>A (p.Pro2001Gln)
c.5789C>A (p.Pro1930Gln)
c.5969C>A (p.Pro1990Gln)
12g.80358680C>GCA385888671OTOGLc.6131C>G (p.Pro2044Arg)
c.71C>G (p.Pro24Arg)
c.5996C>G (p.Pro1999Arg)
c.1432C>G
c.6104C>G (p.Pro2035Arg)
n.387C>G
c.6068C>G (p.Pro2023Arg)
c.155C>G (p.Pro52Arg)
c.259C>G
c.6155C>G (p.Pro2052Arg)
c.6002C>G (p.Pro2001Arg)
c.5789C>G (p.Pro1930Arg)
c.5969C>G (p.Pro1990Arg)
12g.80358680C>TCA385888672OTOGLc.6131C>T (p.Pro2044Leu)
c.71C>T (p.Pro24Leu)
c.5996C>T (p.Pro1999Leu)
c.1432C>T
c.6104C>T (p.Pro2035Leu)
n.387C>T
c.6068C>T (p.Pro2023Leu)
c.155C>T (p.Pro52Leu)
c.259C>T
c.6155C>T (p.Pro2052Leu)
c.6002C>T (p.Pro2001Leu)
c.5789C>T (p.Pro1930Leu)
c.5969C>T (p.Pro1990Leu)
12g.80358681_80358684dupCA2575235837OTOGLc.6132_6135dup (p.Leu2046LysfsTer?)
c.72_75dup (p.Leu26LysfsTer?)
c.5997_6000dup (p.Leu2001LysfsTer?)
c.1433_1436dup
c.6105_6108dup (p.Leu2037LysfsTer?)
n.388_391dup
c.6069_6072dup (p.Leu2025LysfsTer?)
c.156_159dup (p.Leu54LysfsTer?)
c.260_263dup
c.6156_6159dup (p.Leu2054LysfsTer?)
c.6003_6006dup (p.Leu2003LysfsTer?)
c.5790_5793dup (p.Leu1932LysfsTer?)
c.5970_5973dup (p.Leu1992LysfsTer?)
 gnomAD v4
12g.80358681A=CA2049208484OTOGLc.6132A= (p.Pro2044=)
c.72A= (p.Pro24=)
c.5997A= (p.Pro1999=)
c.1433A=
c.6105A= (p.Pro2035=)
n.388A=
c.6069A= (p.Pro2023=)
c.156A= (p.Pro52=)
c.260A=
c.6156A= (p.Pro2052=)
c.6003A= (p.Pro2001=)
c.5790A= (p.Pro1930=)
c.5970A= (p.Pro1990=)
12g.80358681A>CCA480823052OTOGLc.6132A>C (p.Pro2044=)
c.72A>C (p.Pro24=)
c.5997A>C (p.Pro1999=)
c.1433A>C
c.6105A>C (p.Pro2035=)
n.388A>C
c.6069A>C (p.Pro2023=)
c.156A>C (p.Pro52=)
c.260A>C
c.6156A>C (p.Pro2052=)
c.6003A>C (p.Pro2001=)
c.5790A>C (p.Pro1930=)
c.5970A>C (p.Pro1990=)
12g.80358681A>GCA480823054OTOGLc.6132A>G (p.Pro2044=)
c.72A>G (p.Pro24=)
c.5997A>G (p.Pro1999=)
c.1433A>G
c.6105A>G (p.Pro2035=)
n.388A>G
c.6069A>G (p.Pro2023=)
c.156A>G (p.Pro52=)
c.260A>G
c.6156A>G (p.Pro2052=)
c.6003A>G (p.Pro2001=)
c.5790A>G (p.Pro1930=)
c.5970A>G (p.Pro1990=)
 ClinVar dbSNP gnomAD v4
12g.80358681A>TCA480823056OTOGLc.6132A>T (p.Pro2044=)
c.72A>T (p.Pro24=)
c.5997A>T (p.Pro1999=)
c.1433A>T
c.6105A>T (p.Pro2035=)
n.388A>T
c.6069A>T (p.Pro2023=)
c.156A>T (p.Pro52=)
c.260A>T
c.6156A>T (p.Pro2052=)
c.6003A>T (p.Pro2001=)
c.5790A>T (p.Pro1930=)
c.5970A>T (p.Pro1990=)
12g.80358682A>CCA385888673OTOGLc.6133A>C (p.Asn2045His)
c.73A>C (p.Asn25His)
c.5998A>C (p.Asn2000His)
c.1434A>C
c.6106A>C (p.Asn2036His)
n.389A>C
c.6070A>C (p.Asn2024His)
c.157A>C (p.Asn53His)
c.261A>C
c.6157A>C (p.Asn2053His)
c.6004A>C (p.Asn2002His)
c.5791A>C (p.Asn1931His)
c.5971A>C (p.Asn1991His)
12g.80358682A>GCA385888674OTOGLc.6133A>G (p.Asn2045Asp)
c.73A>G (p.Asn25Asp)
c.5998A>G (p.Asn2000Asp)
c.1434A>G
c.6106A>G (p.Asn2036Asp)
n.389A>G
c.6070A>G (p.Asn2024Asp)
c.157A>G (p.Asn53Asp)
c.261A>G
c.6157A>G (p.Asn2053Asp)
c.6004A>G (p.Asn2002Asp)
c.5791A>G (p.Asn1931Asp)
c.5971A>G (p.Asn1991Asp)
12g.80358682A>TCA385888675OTOGLc.6133A>T (p.Asn2045Tyr)
c.73A>T (p.Asn25Tyr)
c.5998A>T (p.Asn2000Tyr)
c.1434A>T
c.6106A>T (p.Asn2036Tyr)
n.389A>T
c.6070A>T (p.Asn2024Tyr)
c.157A>T (p.Asn53Tyr)
c.261A>T
c.6157A>T (p.Asn2053Tyr)
c.6004A>T (p.Asn2002Tyr)
c.5791A>T (p.Asn1931Tyr)
c.5971A>T (p.Asn1991Tyr)
12g.80358683A>CCA385888676OTOGLc.6134A>C (p.Asn2045Thr)
c.74A>C (p.Asn25Thr)
c.5999A>C (p.Asn2000Thr)
c.1435A>C
c.6107A>C (p.Asn2036Thr)
n.390A>C
c.6071A>C (p.Asn2024Thr)
c.158A>C (p.Asn53Thr)
c.262A>C
c.6158A>C (p.Asn2053Thr)
c.6005A>C (p.Asn2002Thr)
c.5792A>C (p.Asn1931Thr)
c.5972A>C (p.Asn1991Thr)
12g.80358683A>GCA385888677OTOGLc.6134A>G (p.Asn2045Ser)
c.74A>G (p.Asn25Ser)
c.5999A>G (p.Asn2000Ser)
c.1435A>G
c.6107A>G (p.Asn2036Ser)
n.390A>G
c.6071A>G (p.Asn2024Ser)
c.158A>G (p.Asn53Ser)
c.262A>G
c.6158A>G (p.Asn2053Ser)
c.6005A>G (p.Asn2002Ser)
c.5792A>G (p.Asn1931Ser)
c.5972A>G (p.Asn1991Ser)
12g.80358683A>TCA385888678OTOGLc.6134A>T (p.Asn2045Ile)
c.74A>T (p.Asn25Ile)
c.5999A>T (p.Asn2000Ile)
c.1435A>T
c.6107A>T (p.Asn2036Ile)
n.390A>T
c.6071A>T (p.Asn2024Ile)
c.158A>T (p.Asn53Ile)
c.262A>T
c.6158A>T (p.Asn2053Ile)
c.6005A>T (p.Asn2002Ile)
c.5792A>T (p.Asn1931Ile)
c.5972A>T (p.Asn1991Ile)
12g.80358684C>ACA385888679OTOGLc.6135C>A (p.Asn2045Lys)
c.75C>A (p.Asn25Lys)
c.6000C>A (p.Asn2000Lys)
c.1436C>A
c.6108C>A (p.Asn2036Lys)
n.391C>A
c.6072C>A (p.Asn2024Lys)
c.159C>A (p.Asn53Lys)
c.263C>A
c.6159C>A (p.Asn2053Lys)
c.6006C>A (p.Asn2002Lys)
c.5793C>A (p.Asn1931Lys)
c.5973C>A (p.Asn1991Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.80358684C=CA2049208485OTOGLc.6135C= (p.Asn2045=)
c.75C= (p.Asn25=)
c.6000C= (p.Asn2000=)
c.1436C=
c.6108C= (p.Asn2036=)
n.391C=
c.6072C= (p.Asn2024=)
c.159C= (p.Asn53=)
c.263C=
c.6159C= (p.Asn2053=)
c.6006C= (p.Asn2002=)
c.5793C= (p.Asn1931=)
c.5973C= (p.Asn1991=)
12g.80358684C>GCA385888680OTOGLc.6135C>G (p.Asn2045Lys)
c.75C>G (p.Asn25Lys)
c.6000C>G (p.Asn2000Lys)
c.1436C>G
c.6108C>G (p.Asn2036Lys)
n.391C>G
c.6072C>G (p.Asn2024Lys)
c.159C>G (p.Asn53Lys)
c.263C>G
c.6159C>G (p.Asn2053Lys)
c.6006C>G (p.Asn2002Lys)
c.5793C>G (p.Asn1931Lys)
c.5973C>G (p.Asn1991Lys)
 gnomAD v4
12g.80358684C>TCA240239597OTOGLc.6135C>T (p.Asn2045=)
c.75C>T (p.Asn25=)
c.6000C>T (p.Asn2000=)
c.1436C>T
c.6108C>T (p.Asn2036=)
n.391C>T
c.6072C>T (p.Asn2024=)
c.159C>T (p.Asn53=)
c.263C>T
c.6159C>T (p.Asn2053=)
c.6006C>T (p.Asn2002=)
c.5793C>T (p.Asn1931=)
c.5973C>T (p.Asn1991=)
 dbSNP
12g.80358685C>ACA385888683OTOGLc.6136C>A (p.Leu2046Ile)
c.76C>A (p.Leu26Ile)
c.6001C>A (p.Leu2001Ile)
c.1437C>A
c.6109C>A (p.Leu2037Ile)
n.392C>A
c.6073C>A (p.Leu2025Ile)
c.160C>A (p.Leu54Ile)
c.264C>A
c.6160C>A (p.Leu2054Ile)
c.6007C>A (p.Leu2003Ile)
c.5794C>A (p.Leu1932Ile)
c.5974C>A (p.Leu1992Ile)
12g.80358685C>GCA385888682OTOGLc.6136C>G (p.Leu2046Val)
c.76C>G (p.Leu26Val)
c.6001C>G (p.Leu2001Val)
c.1437C>G
c.6109C>G (p.Leu2037Val)
n.392C>G
c.6073C>G (p.Leu2025Val)
c.160C>G (p.Leu54Val)
c.264C>G
c.6160C>G (p.Leu2054Val)
c.6007C>G (p.Leu2003Val)
c.5794C>G (p.Leu1932Val)
c.5974C>G (p.Leu1992Val)
12g.80358685C>TCA385888681OTOGLc.6136C>T (p.Leu2046Phe)
c.76C>T (p.Leu26Phe)
c.6001C>T (p.Leu2001Phe)
c.1437C>T
c.6109C>T (p.Leu2037Phe)
n.392C>T
c.6073C>T (p.Leu2025Phe)
c.160C>T (p.Leu54Phe)
c.264C>T
c.6160C>T (p.Leu2054Phe)
c.6007C>T (p.Leu2003Phe)
c.5794C>T (p.Leu1932Phe)
c.5974C>T (p.Leu1992Phe)
 gnomAD v4 COSMIC COSMIC COSMIC
12g.80358685_80358686delinsCTCA2049208486OTOGLc.6136_6137delinsCT (p.Leu2046=)
c.76_77delinsCT (p.Leu26=)
c.6001_6002delinsCT (p.Leu2001=)
c.1437_1438delinsCT
c.6109_6110delinsCT (p.Leu2037=)
n.392_393delinsCT
c.6073_6074delinsCT (p.Leu2025=)
c.160_161delinsCT (p.Leu54=)
c.264_265delinsCT
c.6160_6161delinsCT (p.Leu2054=)
c.6007_6008delinsCT (p.Leu2003=)
c.5794_5795delinsCT (p.Leu1932=)
c.5974_5975delinsCT (p.Leu1992=)
12g.80358686T>ACA385888684OTOGLc.6137T>A (p.Leu2046His)
c.77T>A (p.Leu26His)
c.6002T>A (p.Leu2001His)
c.1438T>A
c.6110T>A (p.Leu2037His)
n.393T>A
c.6074T>A (p.Leu2025His)
c.161T>A (p.Leu54His)
c.265T>A
c.6161T>A (p.Leu2054His)
c.6008T>A (p.Leu2003His)
c.5795T>A (p.Leu1932His)
c.5975T>A (p.Leu1992His)
12g.80358686T>CCA385888685OTOGLc.6137T>C (p.Leu2046Pro)
c.77T>C (p.Leu26Pro)
c.6002T>C (p.Leu2001Pro)
c.1438T>C
c.6110T>C (p.Leu2037Pro)
n.393T>C
c.6074T>C (p.Leu2025Pro)
c.161T>C (p.Leu54Pro)
c.265T>C
c.6161T>C (p.Leu2054Pro)
c.6008T>C (p.Leu2003Pro)
c.5795T>C (p.Leu1932Pro)
c.5975T>C (p.Leu1992Pro)
 gnomAD v4
12g.80358686T>GCA385888686OTOGLc.6137T>G (p.Leu2046Arg)
c.77T>G (p.Leu26Arg)
c.6002T>G (p.Leu2001Arg)
c.1438T>G
c.6110T>G (p.Leu2037Arg)
n.393T>G
c.6074T>G (p.Leu2025Arg)
c.161T>G (p.Leu54Arg)
c.265T>G
c.6161T>G (p.Leu2054Arg)
c.6008T>G (p.Leu2003Arg)
c.5795T>G (p.Leu1932Arg)
c.5975T>G (p.Leu1992Arg)
 dbSNP gnomAD v4
12g.80358686T=CA2049208487OTOGLc.6137T= (p.Leu2046=)
c.77T= (p.Leu26=)
c.6002T= (p.Leu2001=)
c.1438T=
c.6110T= (p.Leu2037=)
n.393T=
c.6074T= (p.Leu2025=)
c.161T= (p.Leu54=)
c.265T=
c.6161T= (p.Leu2054=)
c.6008T= (p.Leu2003=)
c.5795T= (p.Leu1932=)
c.5975T= (p.Leu1992=)
12g.80358688delCA240239625OTOGLc.6139del (p.Cys2047ValfsTer12)
c.79del (p.Cys27ValfsTer12)
c.6004del (p.Cys2002ValfsTer12)
c.1440del
c.6112del (p.Cys2038ValfsTer12)
n.395del
c.6076del (p.Cys2026ValfsTer12)
c.163del (p.Cys55ValfsTer12)
c.267del
c.6163del (p.Cys2055ValfsTer12)
c.6010del (p.Cys2004ValfsTer12)
c.5797del (p.Cys1933ValfsTer12)
c.5977del (p.Cys1993ValfsTer12)
 dbSNP gnomAD v4
12g.80358687T>ACA480823086OTOGLc.6138T>A (p.Leu2046=)
c.78T>A (p.Leu26=)
c.6003T>A (p.Leu2001=)
c.1439T>A
c.6111T>A (p.Leu2037=)
n.394T>A
c.6075T>A (p.Leu2025=)
c.162T>A (p.Leu54=)
c.266T>A
c.6162T>A (p.Leu2054=)
c.6009T>A (p.Leu2003=)
c.5796T>A (p.Leu1932=)
c.5976T>A (p.Leu1992=)
12g.80358687T>CCA480823087OTOGLc.6138T>C (p.Leu2046=)
c.78T>C (p.Leu26=)
c.6003T>C (p.Leu2001=)
c.1439T>C
c.6111T>C (p.Leu2037=)
n.394T>C
c.6075T>C (p.Leu2025=)
c.162T>C (p.Leu54=)
c.266T>C
c.6162T>C (p.Leu2054=)
c.6009T>C (p.Leu2003=)
c.5796T>C (p.Leu1932=)
c.5976T>C (p.Leu1992=)
12g.80358687T>GCA480823089OTOGLc.6138T>G (p.Leu2046=)
c.78T>G (p.Leu26=)
c.6003T>G (p.Leu2001=)
c.1439T>G
c.6111T>G (p.Leu2037=)
n.394T>G
c.6075T>G (p.Leu2025=)
c.162T>G (p.Leu54=)
c.266T>G
c.6162T>G (p.Leu2054=)
c.6009T>G (p.Leu2003=)
c.5796T>G (p.Leu1932=)
c.5976T>G (p.Leu1992=)
12g.80358688T>ACA385888687OTOGLc.6139T>A (p.Cys2047Ser)
c.79T>A (p.Cys27Ser)
c.6004T>A (p.Cys2002Ser)
c.1440T>A
c.6112T>A (p.Cys2038Ser)
n.395T>A
c.6076T>A (p.Cys2026Ser)
c.163T>A (p.Cys55Ser)
c.267T>A
c.6163T>A (p.Cys2055Ser)
c.6010T>A (p.Cys2004Ser)
c.5797T>A (p.Cys1933Ser)
c.5977T>A (p.Cys1993Ser)
12g.80358688T>CCA6701929OTOGLc.6139T>C (p.Cys2047Arg)
c.79T>C (p.Cys27Arg)
c.6004T>C (p.Cys2002Arg)
c.1440T>C
c.6112T>C (p.Cys2038Arg)
n.395T>C
c.6076T>C (p.Cys2026Arg)
c.163T>C (p.Cys55Arg)
c.267T>C
c.6163T>C (p.Cys2055Arg)
c.6010T>C (p.Cys2004Arg)
c.5797T>C (p.Cys1933Arg)
c.5977T>C (p.Cys1993Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358688T>GCA385888688OTOGLc.6139T>G (p.Cys2047Gly)
c.79T>G (p.Cys27Gly)
c.6004T>G (p.Cys2002Gly)
c.1440T>G
c.6112T>G (p.Cys2038Gly)
n.395T>G
c.6076T>G (p.Cys2026Gly)
c.163T>G (p.Cys55Gly)
c.267T>G
c.6163T>G (p.Cys2055Gly)
c.6010T>G (p.Cys2004Gly)
c.5797T>G (p.Cys1933Gly)
c.5977T>G (p.Cys1993Gly)
 gnomAD v4
12g.80358688T=CA2049208488OTOGLc.6139T= (p.Cys2047=)
c.79T= (p.Cys27=)
c.6004T= (p.Cys2002=)
c.1440T=
c.6112T= (p.Cys2038=)
n.395T=
c.6076T= (p.Cys2026=)
c.163T= (p.Cys55=)
c.267T=
c.6163T= (p.Cys2055=)
c.6010T= (p.Cys2004=)
c.5797T= (p.Cys1933=)
c.5977T= (p.Cys1993=)
12g.80358689delCA2620017097OTOGLc.6140del (p.Cys2047PhefsTer12)
c.80del (p.Cys27PhefsTer12)
c.6005del (p.Cys2002PhefsTer12)
c.1441del
c.6113del (p.Cys2038PhefsTer12)
n.396del
c.6077del (p.Cys2026PhefsTer12)
c.164del (p.Cys55PhefsTer12)
c.268del
c.6164del (p.Cys2055PhefsTer12)
c.6011del (p.Cys2004PhefsTer12)
c.5798del (p.Cys1933PhefsTer12)
c.5978del (p.Cys1993PhefsTer12)
 gnomAD v4
12g.80358689G>ACA385888689OTOGLc.6140G>A (p.Cys2047Tyr)
c.80G>A (p.Cys27Tyr)
c.6005G>A (p.Cys2002Tyr)
c.1441G>A
c.6113G>A (p.Cys2038Tyr)
n.396G>A
c.6077G>A (p.Cys2026Tyr)
c.164G>A (p.Cys55Tyr)
c.268G>A
c.6164G>A (p.Cys2055Tyr)
c.6011G>A (p.Cys2004Tyr)
c.5798G>A (p.Cys1933Tyr)
c.5978G>A (p.Cys1993Tyr)
 gnomAD v4
12g.80358689G>CCA385888690OTOGLc.6140G>C (p.Cys2047Ser)
c.80G>C (p.Cys27Ser)
c.6005G>C (p.Cys2002Ser)
c.1441G>C
c.6113G>C (p.Cys2038Ser)
n.396G>C
c.6077G>C (p.Cys2026Ser)
c.164G>C (p.Cys55Ser)
c.268G>C
c.6164G>C (p.Cys2055Ser)
c.6011G>C (p.Cys2004Ser)
c.5798G>C (p.Cys1933Ser)
c.5978G>C (p.Cys1993Ser)
12g.80358689G>TCA385888691OTOGLc.6140G>T (p.Cys2047Phe)
c.80G>T (p.Cys27Phe)
c.6005G>T (p.Cys2002Phe)
c.1441G>T
c.6113G>T (p.Cys2038Phe)
n.396G>T
c.6077G>T (p.Cys2026Phe)
c.164G>T (p.Cys55Phe)
c.268G>T
c.6164G>T (p.Cys2055Phe)
c.6011G>T (p.Cys2004Phe)
c.5798G>T (p.Cys1933Phe)
c.5978G>T (p.Cys1993Phe)
12g.80358690T>ACA385888692OTOGLc.6141T>A (p.Cys2047Ter)
c.81T>A (p.Cys27Ter)
c.6006T>A (p.Cys2002Ter)
c.1442T>A
c.6114T>A (p.Cys2038Ter)
n.397T>A
c.6078T>A (p.Cys2026Ter)
c.165T>A (p.Cys55Ter)
c.269T>A
c.6165T>A (p.Cys2055Ter)
c.6012T>A (p.Cys2004Ter)
c.5799T>A (p.Cys1933Ter)
c.5979T>A (p.Cys1993Ter)
12g.80358690T>CCA480823106OTOGLc.6141T>C (p.Cys2047=)
c.81T>C (p.Cys27=)
c.6006T>C (p.Cys2002=)
c.1442T>C
c.6114T>C (p.Cys2038=)
n.397T>C
c.6078T>C (p.Cys2026=)
c.165T>C (p.Cys55=)
c.269T>C
c.6165T>C (p.Cys2055=)
c.6012T>C (p.Cys2004=)
c.5799T>C (p.Cys1933=)
c.5979T>C (p.Cys1993=)
12g.80358690T>GCA385888693OTOGLc.6141T>G (p.Cys2047Trp)
c.81T>G (p.Cys27Trp)
c.6006T>G (p.Cys2002Trp)
c.1442T>G
c.6114T>G (p.Cys2038Trp)
n.397T>G
c.6078T>G (p.Cys2026Trp)
c.165T>G (p.Cys55Trp)
c.269T>G
c.6165T>G (p.Cys2055Trp)
c.6012T>G (p.Cys2004Trp)
c.5799T>G (p.Cys1933Trp)
c.5979T>G (p.Cys1993Trp)
12g.80358691C>ACA385888694OTOGLc.6142C>A (p.Pro2048Thr)
c.82C>A (p.Pro28Thr)
c.6007C>A (p.Pro2003Thr)
c.1443C>A
c.6115C>A (p.Pro2039Thr)
n.398C>A
c.6079C>A (p.Pro2027Thr)
c.166C>A (p.Pro56Thr)
c.270C>A
c.6166C>A (p.Pro2056Thr)
c.6013C>A (p.Pro2005Thr)
c.5800C>A (p.Pro1934Thr)
c.5980C>A (p.Pro1994Thr)
 COSMIC COSMIC
12g.80358691C=CA2049208489OTOGLc.6142C= (p.Pro2048=)
c.82C= (p.Pro28=)
c.6007C= (p.Pro2003=)
c.1443C=
c.6115C= (p.Pro2039=)
n.398C=
c.6079C= (p.Pro2027=)
c.166C= (p.Pro56=)
c.270C=
c.6166C= (p.Pro2056=)
c.6013C= (p.Pro2005=)
c.5800C= (p.Pro1934=)
c.5980C= (p.Pro1994=)
12g.80358691C>GCA385888696OTOGLc.6142C>G (p.Pro2048Ala)
c.82C>G (p.Pro28Ala)
c.6007C>G (p.Pro2003Ala)
c.1443C>G
c.6115C>G (p.Pro2039Ala)
n.398C>G
c.6079C>G (p.Pro2027Ala)
c.166C>G (p.Pro56Ala)
c.270C>G
c.6166C>G (p.Pro2056Ala)
c.6013C>G (p.Pro2005Ala)
c.5800C>G (p.Pro1934Ala)
c.5980C>G (p.Pro1994Ala)
12g.80358691C>TCA385888695OTOGLc.6142C>T (p.Pro2048Ser)
c.82C>T (p.Pro28Ser)
c.6007C>T (p.Pro2003Ser)
c.1443C>T
c.6115C>T (p.Pro2039Ser)
n.398C>T
c.6079C>T (p.Pro2027Ser)
c.166C>T (p.Pro56Ser)
c.270C>T
c.6166C>T (p.Pro2056Ser)
c.6013C>T (p.Pro2005Ser)
c.5800C>T (p.Pro1934Ser)
c.5980C>T (p.Pro1994Ser)
 dbSNP gnomAD v4
12g.80358692C>ACA385888697OTOGLc.6143C>A (p.Pro2048His)
c.83C>A (p.Pro28His)
c.6008C>A (p.Pro2003His)
c.1444C>A
c.6116C>A (p.Pro2039His)
n.399C>A
c.6080C>A (p.Pro2027His)
c.167C>A (p.Pro56His)
c.271C>A
c.6167C>A (p.Pro2056His)
c.6014C>A (p.Pro2005His)
c.5801C>A (p.Pro1934His)
c.5981C>A (p.Pro1994His)
12g.80358692C=CA2049208490OTOGLc.6143C= (p.Pro2048=)
c.83C= (p.Pro28=)
c.6008C= (p.Pro2003=)
c.1444C=
c.6116C= (p.Pro2039=)
n.399C=
c.6080C= (p.Pro2027=)
c.167C= (p.Pro56=)
c.271C=
c.6167C= (p.Pro2056=)
c.6014C= (p.Pro2005=)
c.5801C= (p.Pro1934=)
c.5981C= (p.Pro1994=)
12g.80358692C>GCA385888698OTOGLc.6143C>G (p.Pro2048Arg)
c.83C>G (p.Pro28Arg)
c.6008C>G (p.Pro2003Arg)
c.1444C>G
c.6116C>G (p.Pro2039Arg)
n.399C>G
c.6080C>G (p.Pro2027Arg)
c.167C>G (p.Pro56Arg)
c.271C>G
c.6167C>G (p.Pro2056Arg)
c.6014C>G (p.Pro2005Arg)
c.5801C>G (p.Pro1934Arg)
c.5981C>G (p.Pro1994Arg)
12g.80358692C>TCA385888699OTOGLc.6143C>T (p.Pro2048Leu)
c.83C>T (p.Pro28Leu)
c.6008C>T (p.Pro2003Leu)
c.1444C>T
c.6116C>T (p.Pro2039Leu)
n.399C>T
c.6080C>T (p.Pro2027Leu)
c.167C>T (p.Pro56Leu)
c.271C>T
c.6167C>T (p.Pro2056Leu)
c.6014C>T (p.Pro2005Leu)
c.5801C>T (p.Pro1934Leu)
c.5981C>T (p.Pro1994Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358693T>ACA480823120OTOGLc.6144T>A (p.Pro2048=)
c.84T>A (p.Pro28=)
c.6009T>A (p.Pro2003=)
c.1445T>A
c.6117T>A (p.Pro2039=)
n.400T>A
c.6081T>A (p.Pro2027=)
c.168T>A (p.Pro56=)
c.272T>A
c.6168T>A (p.Pro2056=)
c.6015T>A (p.Pro2005=)
c.5802T>A (p.Pro1934=)
c.5982T>A (p.Pro1994=)
12g.80358693T>CCA480823122OTOGLc.6144T>C (p.Pro2048=)
c.84T>C (p.Pro28=)
c.6009T>C (p.Pro2003=)
c.1445T>C
c.6117T>C (p.Pro2039=)
n.400T>C
c.6081T>C (p.Pro2027=)
c.168T>C (p.Pro56=)
c.272T>C
c.6168T>C (p.Pro2056=)
c.6015T>C (p.Pro2005=)
c.5802T>C (p.Pro1934=)
c.5982T>C (p.Pro1994=)
12g.80358693T>GCA480823124OTOGLc.6144T>G (p.Pro2048=)
c.84T>G (p.Pro28=)
c.6009T>G (p.Pro2003=)
c.1445T>G
c.6117T>G (p.Pro2039=)
n.400T>G
c.6081T>G (p.Pro2027=)
c.168T>G (p.Pro56=)
c.272T>G
c.6168T>G (p.Pro2056=)
c.6015T>G (p.Pro2005=)
c.5802T>G (p.Pro1934=)
c.5982T>G (p.Pro1994=)
12g.80358694A=CA2049208491OTOGLc.6145A= (p.Met2049=)
c.85A= (p.Met29=)
c.6010A= (p.Met2004=)
c.1446A=
c.6118A= (p.Met2040=)
n.401A=
c.6082A= (p.Met2028=)
c.169A= (p.Met57=)
c.273A=
c.6169A= (p.Met2057=)
c.6016A= (p.Met2006=)
c.5803A= (p.Met1935=)
c.5983A= (p.Met1995=)
12g.80358694A>CCA385888700OTOGLc.6145A>C (p.Met2049Leu)
c.85A>C (p.Met29Leu)
c.6010A>C (p.Met2004Leu)
c.1446A>C
c.6118A>C (p.Met2040Leu)
n.401A>C
c.6082A>C (p.Met2028Leu)
c.169A>C (p.Met57Leu)
c.273A>C
c.6169A>C (p.Met2057Leu)
c.6016A>C (p.Met2006Leu)
c.5803A>C (p.Met1935Leu)
c.5983A>C (p.Met1995Leu)
12g.80358694A>GCA385888701OTOGLc.6145A>G (p.Met2049Val)
c.85A>G (p.Met29Val)
c.6010A>G (p.Met2004Val)
c.1446A>G
c.6118A>G (p.Met2040Val)
n.401A>G
c.6082A>G (p.Met2028Val)
c.169A>G (p.Met57Val)
c.273A>G
c.6169A>G (p.Met2057Val)
c.6016A>G (p.Met2006Val)
c.5803A>G (p.Met1935Val)
c.5983A>G (p.Met1995Val)
 dbSNP gnomAD v3 gnomAD v4
12g.80358694A>TCA385888702OTOGLc.6145A>T (p.Met2049Leu)
c.85A>T (p.Met29Leu)
c.6010A>T (p.Met2004Leu)
c.1446A>T
c.6118A>T (p.Met2040Leu)
n.401A>T
c.6082A>T (p.Met2028Leu)
c.169A>T (p.Met57Leu)
c.273A>T
c.6169A>T (p.Met2057Leu)
c.6016A>T (p.Met2006Leu)
c.5803A>T (p.Met1935Leu)
c.5983A>T (p.Met1995Leu)
12g.80358695T>ACA385888705OTOGLc.6146T>A (p.Met2049Lys)
c.86T>A (p.Met29Lys)
c.6011T>A (p.Met2004Lys)
c.1447T>A
c.6119T>A (p.Met2040Lys)
n.402T>A
c.6083T>A (p.Met2028Lys)
c.170T>A (p.Met57Lys)
c.274T>A
c.6170T>A (p.Met2057Lys)
c.6017T>A (p.Met2006Lys)
c.5804T>A (p.Met1935Lys)
c.5984T>A (p.Met1995Lys)
12g.80358695T>CCA385888704OTOGLc.6146T>C (p.Met2049Thr)
c.86T>C (p.Met29Thr)
c.6011T>C (p.Met2004Thr)
c.1447T>C
c.6119T>C (p.Met2040Thr)
n.402T>C
c.6083T>C (p.Met2028Thr)
c.170T>C (p.Met57Thr)
c.274T>C
c.6170T>C (p.Met2057Thr)
c.6017T>C (p.Met2006Thr)
c.5804T>C (p.Met1935Thr)
c.5984T>C (p.Met1995Thr)
12g.80358695T>GCA385888703OTOGLc.6146T>G (p.Met2049Arg)
c.86T>G (p.Met29Arg)
c.6011T>G (p.Met2004Arg)
c.1447T>G
c.6119T>G (p.Met2040Arg)
n.402T>G
c.6083T>G (p.Met2028Arg)
c.170T>G (p.Met57Arg)
c.274T>G
c.6170T>G (p.Met2057Arg)
c.6017T>G (p.Met2006Arg)
c.5804T>G (p.Met1935Arg)
c.5984T>G (p.Met1995Arg)
12g.80358696G>ACA385888706OTOGLc.6147G>A (p.Met2049Ile)
c.87G>A (p.Met29Ile)
c.6012G>A (p.Met2004Ile)
c.1448G>A
c.6120G>A (p.Met2040Ile)
n.403G>A
c.6084G>A (p.Met2028Ile)
c.171G>A (p.Met57Ile)
c.275G>A
c.6171G>A (p.Met2057Ile)
c.6018G>A (p.Met2006Ile)
c.5805G>A (p.Met1935Ile)
c.5985G>A (p.Met1995Ile)
 dbSNP
12g.80358696G>CCA385888707OTOGLc.6147G>C (p.Met2049Ile)
c.87G>C (p.Met29Ile)
c.6012G>C (p.Met2004Ile)
c.1448G>C
c.6120G>C (p.Met2040Ile)
n.403G>C
c.6084G>C (p.Met2028Ile)
c.171G>C (p.Met57Ile)
c.275G>C
c.6171G>C (p.Met2057Ile)
c.6018G>C (p.Met2006Ile)
c.5805G>C (p.Met1935Ile)
c.5985G>C (p.Met1995Ile)
12g.80358696G=CA2049208492OTOGLc.6147G= (p.Met2049=)
c.87G= (p.Met29=)
c.6012G= (p.Met2004=)
c.1448G=
c.6120G= (p.Met2040=)
n.403G=
c.6084G= (p.Met2028=)
c.171G= (p.Met57=)
c.275G=
c.6171G= (p.Met2057=)
c.6018G= (p.Met2006=)
c.5805G= (p.Met1935=)
c.5985G= (p.Met1995=)
12g.80358696G>TCA385888708OTOGLc.6147G>T (p.Met2049Ile)
c.87G>T (p.Met29Ile)
c.6012G>T (p.Met2004Ile)
c.1448G>T
c.6120G>T (p.Met2040Ile)
n.403G>T
c.6084G>T (p.Met2028Ile)
c.171G>T (p.Met57Ile)
c.275G>T
c.6171G>T (p.Met2057Ile)
c.6018G>T (p.Met2006Ile)
c.5805G>T (p.Met1935Ile)
c.5985G>T (p.Met1995Ile)
12g.80358697C>ACA385888709OTOGLc.6148C>A (p.Pro2050Thr)
c.88C>A (p.Pro30Thr)
c.6013C>A (p.Pro2005Thr)
c.1449C>A
c.6121C>A (p.Pro2041Thr)
n.404C>A
c.6085C>A (p.Pro2029Thr)
c.172C>A (p.Pro58Thr)
c.276C>A
c.6172C>A (p.Pro2058Thr)
c.6019C>A (p.Pro2007Thr)
c.5806C>A (p.Pro1936Thr)
c.5986C>A (p.Pro1996Thr)
12g.80358697C>GCA385888710OTOGLc.6148C>G (p.Pro2050Ala)
c.88C>G (p.Pro30Ala)
c.6013C>G (p.Pro2005Ala)
c.1449C>G
c.6121C>G (p.Pro2041Ala)
n.404C>G
c.6085C>G (p.Pro2029Ala)
c.172C>G (p.Pro58Ala)
c.276C>G
c.6172C>G (p.Pro2058Ala)
c.6019C>G (p.Pro2007Ala)
c.5806C>G (p.Pro1936Ala)
c.5986C>G (p.Pro1996Ala)
12g.80358697C>TCA385888711OTOGLc.6148C>T (p.Pro2050Ser)
c.88C>T (p.Pro30Ser)
c.6013C>T (p.Pro2005Ser)
c.1449C>T
c.6121C>T (p.Pro2041Ser)
n.404C>T
c.6085C>T (p.Pro2029Ser)
c.172C>T (p.Pro58Ser)
c.276C>T
c.6172C>T (p.Pro2058Ser)
c.6019C>T (p.Pro2007Ser)
c.5806C>T (p.Pro1936Ser)
c.5986C>T (p.Pro1996Ser)
 COSMIC COSMIC
12g.80358698C>ACA385888712OTOGLc.6149C>A (p.Pro2050Gln)
c.89C>A (p.Pro30Gln)
c.6014C>A (p.Pro2005Gln)
c.1450C>A
c.6122C>A (p.Pro2041Gln)
n.405C>A
c.6086C>A (p.Pro2029Gln)
c.173C>A (p.Pro58Gln)
c.277C>A
c.6173C>A (p.Pro2058Gln)
c.6020C>A (p.Pro2007Gln)
c.5807C>A (p.Pro1936Gln)
c.5987C>A (p.Pro1996Gln)
12g.80358698C>GCA385888714OTOGLc.6149C>G (p.Pro2050Arg)
c.89C>G (p.Pro30Arg)
c.6014C>G (p.Pro2005Arg)
c.1450C>G
c.6122C>G (p.Pro2041Arg)
n.405C>G
c.6086C>G (p.Pro2029Arg)
c.173C>G (p.Pro58Arg)
c.277C>G
c.6173C>G (p.Pro2058Arg)
c.6020C>G (p.Pro2007Arg)
c.5807C>G (p.Pro1936Arg)
c.5987C>G (p.Pro1996Arg)
12g.80358698C>TCA385888713OTOGLc.6149C>T (p.Pro2050Leu)
c.89C>T (p.Pro30Leu)
c.6014C>T (p.Pro2005Leu)
c.1450C>T
c.6122C>T (p.Pro2041Leu)
n.405C>T
c.6086C>T (p.Pro2029Leu)
c.173C>T (p.Pro58Leu)
c.277C>T
c.6173C>T (p.Pro2058Leu)
c.6020C>T (p.Pro2007Leu)
c.5807C>T (p.Pro1936Leu)
c.5987C>T (p.Pro1996Leu)
12g.80358699A=CA2049208493OTOGLc.6150A= (p.Pro2050=)
c.90A= (p.Pro30=)
c.6015A= (p.Pro2005=)
c.1451A=
c.6123A= (p.Pro2041=)
n.406A=
c.6087A= (p.Pro2029=)
c.174A= (p.Pro58=)
c.278A=
c.6174A= (p.Pro2058=)
c.6021A= (p.Pro2007=)
c.5808A= (p.Pro1936=)
c.5988A= (p.Pro1996=)
12g.80358699A>CCA480823152OTOGLc.6150A>C (p.Pro2050=)
c.90A>C (p.Pro30=)
c.6015A>C (p.Pro2005=)
c.1451A>C
c.6123A>C (p.Pro2041=)
n.406A>C
c.6087A>C (p.Pro2029=)
c.174A>C (p.Pro58=)
c.278A>C
c.6174A>C (p.Pro2058=)
c.6021A>C (p.Pro2007=)
c.5808A>C (p.Pro1936=)
c.5988A>C (p.Pro1996=)
12g.80358699A>GCA6701930OTOGLc.6150A>G (p.Pro2050=)
c.90A>G (p.Pro30=)
c.6015A>G (p.Pro2005=)
c.1451A>G
c.6123A>G (p.Pro2041=)
n.406A>G
c.6087A>G (p.Pro2029=)
c.174A>G (p.Pro58=)
c.278A>G
c.6174A>G (p.Pro2058=)
c.6021A>G (p.Pro2007=)
c.5808A>G (p.Pro1936=)
c.5988A>G (p.Pro1996=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358699A>TCA480823156OTOGLc.6150A>T (p.Pro2050=)
c.90A>T (p.Pro30=)
c.6015A>T (p.Pro2005=)
c.1451A>T
c.6123A>T (p.Pro2041=)
n.406A>T
c.6087A>T (p.Pro2029=)
c.174A>T (p.Pro58=)
c.278A>T
c.6174A>T (p.Pro2058=)
c.6021A>T (p.Pro2007=)
c.5808A>T (p.Pro1936=)
c.5988A>T (p.Pro1996=)
 dbSNP
12g.80358700T>ACA385888715OTOGLc.6151T>A (p.Leu2051Ile)
c.91T>A (p.Leu31Ile)
c.6016T>A (p.Leu2006Ile)
c.1452T>A
c.6124T>A (p.Leu2042Ile)
n.407T>A
c.6088T>A (p.Leu2030Ile)
c.175T>A (p.Leu59Ile)
c.279T>A
c.6175T>A (p.Leu2059Ile)
c.6022T>A (p.Leu2008Ile)
c.5809T>A (p.Leu1937Ile)
c.5989T>A (p.Leu1997Ile)
12g.80358700T>CCA480823161OTOGLc.6151T>C (p.Leu2051=)
c.91T>C (p.Leu31=)
c.6016T>C (p.Leu2006=)
c.1452T>C
c.6124T>C (p.Leu2042=)
n.407T>C
c.6088T>C (p.Leu2030=)
c.175T>C (p.Leu59=)
c.279T>C
c.6175T>C (p.Leu2059=)
c.6022T>C (p.Leu2008=)
c.5809T>C (p.Leu1937=)
c.5989T>C (p.Leu1997=)
12g.80358700T>GCA385888716OTOGLc.6151T>G (p.Leu2051Val)
c.91T>G (p.Leu31Val)
c.6016T>G (p.Leu2006Val)
c.1452T>G
c.6124T>G (p.Leu2042Val)
n.407T>G
c.6088T>G (p.Leu2030Val)
c.175T>G (p.Leu59Val)
c.279T>G
c.6175T>G (p.Leu2059Val)
c.6022T>G (p.Leu2008Val)
c.5809T>G (p.Leu1937Val)
c.5989T>G (p.Leu1997Val)
12g.80358701T>ACA385888717OTOGLc.6152T>A (p.Leu2051Ter)
c.92T>A (p.Leu31Ter)
c.6017T>A (p.Leu2006Ter)
c.1453T>A
c.6125T>A (p.Leu2042Ter)
n.408T>A
c.6089T>A (p.Leu2030Ter)
c.176T>A (p.Leu59Ter)
c.280T>A
c.6176T>A (p.Leu2059Ter)
c.6023T>A (p.Leu2008Ter)
c.5810T>A (p.Leu1937Ter)
c.5990T>A (p.Leu1997Ter)
12g.80358701T>CCA385888718OTOGLc.6152T>C (p.Leu2051Ser)
c.92T>C (p.Leu31Ser)
c.6017T>C (p.Leu2006Ser)
c.1453T>C
c.6125T>C (p.Leu2042Ser)
n.408T>C
c.6089T>C (p.Leu2030Ser)
c.176T>C (p.Leu59Ser)
c.280T>C
c.6176T>C (p.Leu2059Ser)
c.6023T>C (p.Leu2008Ser)
c.5810T>C (p.Leu1937Ser)
c.5990T>C (p.Leu1997Ser)
 gnomAD v4
12g.80358701T>GCA385888719OTOGLc.6152T>G (p.Leu2051Ter)
c.92T>G (p.Leu31Ter)
c.6017T>G (p.Leu2006Ter)
c.1453T>G
c.6125T>G (p.Leu2042Ter)
n.408T>G
c.6089T>G (p.Leu2030Ter)
c.176T>G (p.Leu59Ter)
c.280T>G
c.6176T>G (p.Leu2059Ter)
c.6023T>G (p.Leu2008Ter)
c.5810T>G (p.Leu1937Ter)
c.5990T>G (p.Leu1997Ter)
12g.80358702A=CA2049208494OTOGLc.6153A= (p.Leu2051=)
c.93A= (p.Leu31=)
c.6018A= (p.Leu2006=)
c.1454A=
c.6126A= (p.Leu2042=)
n.409A=
c.6090A= (p.Leu2030=)
c.177A= (p.Leu59=)
c.281A=
c.6177A= (p.Leu2059=)
c.6024A= (p.Leu2008=)
c.5811A= (p.Leu1937=)
c.5991A= (p.Leu1997=)
12g.80358702A>CCA385888720OTOGLc.6153A>C (p.Leu2051Phe)
c.93A>C (p.Leu31Phe)
c.6018A>C (p.Leu2006Phe)
c.1454A>C
c.6126A>C (p.Leu2042Phe)
n.409A>C
c.6090A>C (p.Leu2030Phe)
c.177A>C (p.Leu59Phe)
c.281A>C
c.6177A>C (p.Leu2059Phe)
c.6024A>C (p.Leu2008Phe)
c.5811A>C (p.Leu1937Phe)
c.5991A>C (p.Leu1997Phe)
12g.80358702A>GCA480823169OTOGLc.6153A>G (p.Leu2051=)
c.93A>G (p.Leu31=)
c.6018A>G (p.Leu2006=)
c.1454A>G
c.6126A>G (p.Leu2042=)
n.409A>G
c.6090A>G (p.Leu2030=)
c.177A>G (p.Leu59=)
c.281A>G
c.6177A>G (p.Leu2059=)
c.6024A>G (p.Leu2008=)
c.5811A>G (p.Leu1937=)
c.5991A>G (p.Leu1997=)
 dbSNP gnomAD v3 gnomAD v4
12g.80358702A>TCA385888721OTOGLc.6153A>T (p.Leu2051Phe)
c.93A>T (p.Leu31Phe)
c.6018A>T (p.Leu2006Phe)
c.1454A>T
c.6126A>T (p.Leu2042Phe)
n.409A>T
c.6090A>T (p.Leu2030Phe)
c.177A>T (p.Leu59Phe)
c.281A>T
c.6177A>T (p.Leu2059Phe)
c.6024A>T (p.Leu2008Phe)
c.5811A>T (p.Leu1937Phe)
c.5991A>T (p.Leu1997Phe)
12g.80358703C>ACA385888722OTOGLc.6154C>A (p.Leu2052Ile)
c.94C>A (p.Leu32Ile)
c.6019C>A (p.Leu2007Ile)
c.1455C>A
c.6127C>A (p.Leu2043Ile)
n.410C>A
c.6091C>A (p.Leu2031Ile)
c.178C>A (p.Leu60Ile)
c.282C>A
c.6178C>A (p.Leu2060Ile)
c.6025C>A (p.Leu2009Ile)
c.5812C>A (p.Leu1938Ile)
c.5992C>A (p.Leu1998Ile)
12g.80358703C=CA2049208495OTOGLc.6154C= (p.Leu2052=)
c.94C= (p.Leu32=)
c.6019C= (p.Leu2007=)
c.1455C=
c.6127C= (p.Leu2043=)
n.410C=
c.6091C= (p.Leu2031=)
c.178C= (p.Leu60=)
c.282C=
c.6178C= (p.Leu2060=)
c.6025C= (p.Leu2009=)
c.5812C= (p.Leu1938=)
c.5992C= (p.Leu1998=)
12g.80358703C>GCA385888723OTOGLc.6154C>G (p.Leu2052Val)
c.94C>G (p.Leu32Val)
c.6019C>G (p.Leu2007Val)
c.1455C>G
c.6127C>G (p.Leu2043Val)
n.410C>G
c.6091C>G (p.Leu2031Val)
c.178C>G (p.Leu60Val)
c.282C>G
c.6178C>G (p.Leu2060Val)
c.6025C>G (p.Leu2009Val)
c.5812C>G (p.Leu1938Val)
c.5992C>G (p.Leu1998Val)
12g.80358703C>TCA385888724OTOGLc.6154C>T (p.Leu2052Phe)
c.94C>T (p.Leu32Phe)
c.6019C>T (p.Leu2007Phe)
c.1455C>T
c.6127C>T (p.Leu2043Phe)
n.410C>T
c.6091C>T (p.Leu2031Phe)
c.178C>T (p.Leu60Phe)
c.282C>T
c.6178C>T (p.Leu2060Phe)
c.6025C>T (p.Leu2009Phe)
c.5812C>T (p.Leu1938Phe)
c.5992C>T (p.Leu1998Phe)
 dbSNP
12g.80358704T>ACA385888725OTOGLc.6155T>A (p.Leu2052His)
c.95T>A (p.Leu32His)
c.6020T>A (p.Leu2007His)
c.1456T>A
c.6128T>A (p.Leu2043His)
n.411T>A
c.6092T>A (p.Leu2031His)
c.179T>A (p.Leu60His)
c.283T>A
c.6179T>A (p.Leu2060His)
c.6026T>A (p.Leu2009His)
c.5813T>A (p.Leu1938His)
c.5993T>A (p.Leu1998His)
12g.80358704T>CCA385888727OTOGLc.6155T>C (p.Leu2052Pro)
c.95T>C (p.Leu32Pro)
c.6020T>C (p.Leu2007Pro)
c.1456T>C
c.6128T>C (p.Leu2043Pro)
n.411T>C
c.6092T>C (p.Leu2031Pro)
c.179T>C (p.Leu60Pro)
c.283T>C
c.6179T>C (p.Leu2060Pro)
c.6026T>C (p.Leu2009Pro)
c.5813T>C (p.Leu1938Pro)
c.5993T>C (p.Leu1998Pro)
12g.80358704T>GCA385888726OTOGLc.6155T>G (p.Leu2052Arg)
c.95T>G (p.Leu32Arg)
c.6020T>G (p.Leu2007Arg)
c.1456T>G
c.6128T>G (p.Leu2043Arg)
n.411T>G
c.6092T>G (p.Leu2031Arg)
c.179T>G (p.Leu60Arg)
c.283T>G
c.6179T>G (p.Leu2060Arg)
c.6026T>G (p.Leu2009Arg)
c.5813T>G (p.Leu1938Arg)
c.5993T>G (p.Leu1998Arg)
12g.80358705C>ACA6701932OTOGLc.6156C>A (p.Leu2052=)
c.96C>A (p.Leu32=)
c.6021C>A (p.Leu2007=)
c.1457C>A
c.6129C>A (p.Leu2043=)
n.412C>A
c.6093C>A (p.Leu2031=)
c.180C>A (p.Leu60=)
c.284C>A
c.6180C>A (p.Leu2060=)
c.6027C>A (p.Leu2009=)
c.5814C>A (p.Leu1938=)
c.5994C>A (p.Leu1998=)
 dbSNP ExAC gnomAD v2
12g.80358705C=CA2049208496OTOGLc.6156C= (p.Leu2052=)
c.96C= (p.Leu32=)
c.6021C= (p.Leu2007=)
c.1457C=
c.6129C= (p.Leu2043=)
n.412C=
c.6093C= (p.Leu2031=)
c.180C= (p.Leu60=)
c.284C=
c.6180C= (p.Leu2060=)
c.6027C= (p.Leu2009=)
c.5814C= (p.Leu1938=)
c.5994C= (p.Leu1998=)
12g.80358705C>GCA480823191OTOGLc.6156C>G (p.Leu2052=)
c.96C>G (p.Leu32=)
c.6021C>G (p.Leu2007=)
c.1457C>G
c.6129C>G (p.Leu2043=)
n.412C>G
c.6093C>G (p.Leu2031=)
c.180C>G (p.Leu60=)
c.284C>G
c.6180C>G (p.Leu2060=)
c.6027C>G (p.Leu2009=)
c.5814C>G (p.Leu1938=)
c.5994C>G (p.Leu1998=)
 gnomAD v4
12g.80358705C>TCA6701931OTOGLc.6156C>T (p.Leu2052=)
c.96C>T (p.Leu32=)
c.6021C>T (p.Leu2007=)
c.1457C>T
c.6129C>T (p.Leu2043=)
n.412C>T
c.6093C>T (p.Leu2031=)
c.180C>T (p.Leu60=)
c.284C>T
c.6180C>T (p.Leu2060=)
c.6027C>T (p.Leu2009=)
c.5814C>T (p.Leu1938=)
c.5994C>T (p.Leu1998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358706A>CCA385888728OTOGLc.6157A>C (p.Asn2053His)
c.97A>C (p.Asn33His)
c.6022A>C (p.Asn2008His)
c.1458A>C
c.6130A>C (p.Asn2044His)
n.413A>C
c.6094A>C (p.Asn2032His)
c.181A>C (p.Asn61His)
c.285A>C
c.6181A>C (p.Asn2061His)
c.6028A>C (p.Asn2010His)
c.5815A>C (p.Asn1939His)
c.5995A>C (p.Asn1999His)
 gnomAD v4
12g.80358706A>GCA385888729OTOGLc.6157A>G (p.Asn2053Asp)
c.97A>G (p.Asn33Asp)
c.6022A>G (p.Asn2008Asp)
c.1458A>G
c.6130A>G (p.Asn2044Asp)
n.413A>G
c.6094A>G (p.Asn2032Asp)
c.181A>G (p.Asn61Asp)
c.285A>G
c.6181A>G (p.Asn2061Asp)
c.6028A>G (p.Asn2010Asp)
c.5815A>G (p.Asn1939Asp)
c.5995A>G (p.Asn1999Asp)
 dbSNP
12g.80358706A>TCA385888730OTOGLc.6157A>T (p.Asn2053Tyr)
c.97A>T (p.Asn33Tyr)
c.6022A>T (p.Asn2008Tyr)
c.1458A>T
c.6130A>T (p.Asn2044Tyr)
n.413A>T
c.6094A>T (p.Asn2032Tyr)
c.181A>T (p.Asn61Tyr)
c.285A>T
c.6181A>T (p.Asn2061Tyr)
c.6028A>T (p.Asn2010Tyr)
c.5815A>T (p.Asn1939Tyr)
c.5995A>T (p.Asn1999Tyr)
 gnomAD v4
12g.80358707A>CCA385888731OTOGLc.6158A>C (p.Asn2053Thr)
c.98A>C (p.Asn33Thr)
c.6023A>C (p.Asn2008Thr)
c.1459A>C
c.6131A>C (p.Asn2044Thr)
n.414A>C
c.6095A>C (p.Asn2032Thr)
c.182A>C (p.Asn61Thr)
c.286A>C
c.6182A>C (p.Asn2061Thr)
c.6029A>C (p.Asn2010Thr)
c.5816A>C (p.Asn1939Thr)
c.5996A>C (p.Asn1999Thr)
12g.80358707A>GCA385888732OTOGLc.6158A>G (p.Asn2053Ser)
c.98A>G (p.Asn33Ser)
c.6023A>G (p.Asn2008Ser)
c.1459A>G
c.6131A>G (p.Asn2044Ser)
n.414A>G
c.6095A>G (p.Asn2032Ser)
c.182A>G (p.Asn61Ser)
c.286A>G
c.6182A>G (p.Asn2061Ser)
c.6029A>G (p.Asn2010Ser)
c.5816A>G (p.Asn1939Ser)
c.5996A>G (p.Asn1999Ser)
 gnomAD v4
12g.80358707A>TCA385888733OTOGLc.6158A>T (p.Asn2053Ile)
c.98A>T (p.Asn33Ile)
c.6023A>T (p.Asn2008Ile)
c.1459A>T
c.6131A>T (p.Asn2044Ile)
n.414A>T
c.6095A>T (p.Asn2032Ile)
c.182A>T (p.Asn61Ile)
c.286A>T
c.6182A>T (p.Asn2061Ile)
c.6029A>T (p.Asn2010Ile)
c.5816A>T (p.Asn1939Ile)
c.5996A>T (p.Asn1999Ile)
12g.80358708C>ACA385888734OTOGLc.6159C>A (p.Asn2053Lys)
c.99C>A (p.Asn33Lys)
c.6024C>A (p.Asn2008Lys)
c.1460C>A
c.6132C>A (p.Asn2044Lys)
n.415C>A
c.6096C>A (p.Asn2032Lys)
c.183C>A (p.Asn61Lys)
c.287C>A
c.6183C>A (p.Asn2061Lys)
c.6030C>A (p.Asn2010Lys)
c.5817C>A (p.Asn1939Lys)
c.5997C>A (p.Asn1999Lys)
12g.80358708C>GCA385888735OTOGLc.6159C>G (p.Asn2053Lys)
c.99C>G (p.Asn33Lys)
c.6024C>G (p.Asn2008Lys)
c.1460C>G
c.6132C>G (p.Asn2044Lys)
n.415C>G
c.6096C>G (p.Asn2032Lys)
c.183C>G (p.Asn61Lys)
c.287C>G
c.6183C>G (p.Asn2061Lys)
c.6030C>G (p.Asn2010Lys)
c.5817C>G (p.Asn1939Lys)
c.5997C>G (p.Asn1999Lys)
12g.80358708C>TCA480823202OTOGLc.6159C>T (p.Asn2053=)
c.99C>T (p.Asn33=)
c.6024C>T (p.Asn2008=)
c.1460C>T
c.6132C>T (p.Asn2044=)
n.415C>T
c.6096C>T (p.Asn2032=)
c.183C>T (p.Asn61=)
c.287C>T
c.6183C>T (p.Asn2061=)
c.6030C>T (p.Asn2010=)
c.5817C>T (p.Asn1939=)
c.5997C>T (p.Asn1999=)
12g.80358708_80358710delinsCTGCA2049208497OTOGLc.6159_6161delinsCTG (p.Asn2053=)
c.99_101delinsCTG (p.Asn33=)
c.6024_6026delinsCTG (p.Asn2008=)
c.1460_1462delinsCTG
c.6132_6134delinsCTG (p.Asn2044=)
n.415_417delinsCTG
c.6096_6098delinsCTG (p.Asn2032=)
c.183_185delinsCTG (p.Asn61=)
c.287_289delinsCTG
c.6183_6185delinsCTG (p.Asn2061=)
c.6030_6032delinsCTG (p.Asn2010=)
c.5817_5819delinsCTG (p.Asn1939=)
c.5997_5999delinsCTG (p.Asn1999=)
12g.80358709T>ACA385888738OTOGLc.6160T>A (p.Cys2054Ser)
c.100T>A (p.Cys34Ser)
c.6025T>A (p.Cys2009Ser)
c.1461T>A
c.6133T>A (p.Cys2045Ser)
n.416T>A
c.6097T>A (p.Cys2033Ser)
c.184T>A (p.Cys62Ser)
c.288T>A
c.6184T>A (p.Cys2062Ser)
c.6031T>A (p.Cys2011Ser)
c.5818T>A (p.Cys1940Ser)
c.5998T>A (p.Cys2000Ser)
12g.80358709T>CCA385888737OTOGLc.6160T>C (p.Cys2054Arg)
c.100T>C (p.Cys34Arg)
c.6025T>C (p.Cys2009Arg)
c.1461T>C
c.6133T>C (p.Cys2045Arg)
n.416T>C
c.6097T>C (p.Cys2033Arg)
c.184T>C (p.Cys62Arg)
c.288T>C
c.6184T>C (p.Cys2062Arg)
c.6031T>C (p.Cys2011Arg)
c.5818T>C (p.Cys1940Arg)
c.5998T>C (p.Cys2000Arg)
 gnomAD v4
12g.80358709T>GCA385888736OTOGLc.6160T>G (p.Cys2054Gly)
c.100T>G (p.Cys34Gly)
c.6025T>G (p.Cys2009Gly)
c.1461T>G
c.6133T>G (p.Cys2045Gly)
n.416T>G
c.6097T>G (p.Cys2033Gly)
c.184T>G (p.Cys62Gly)
c.288T>G
c.6184T>G (p.Cys2062Gly)
c.6031T>G (p.Cys2011Gly)
c.5818T>G (p.Cys1940Gly)
c.5998T>G (p.Cys2000Gly)
12g.80358711_80358712delCA6701933OTOGLc.6162_6163del (p.Ala2055ArgfsTer21)
c.102_103del (p.Ala35ArgfsTer21)
c.6027_6028del (p.Ala2010ArgfsTer21)
c.1463_1464del
c.6135_6136del (p.Ala2046ArgfsTer21)
n.418_419del
c.6099_6100del (p.Ala2034ArgfsTer21)
c.186_187del (p.Ala63ArgfsTer21)
c.290_291del
c.6186_6187del (p.Ala2063ArgfsTer21)
c.6033_6034del (p.Ala2012ArgfsTer21)
c.5820_5821del (p.Ala1941ArgfsTer21)
c.6000_6001del (p.Ala2001ArgfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358710delCA2620017098OTOGLc.6161del (p.Cys2054LeufsTer5)
c.101del (p.Cys34LeufsTer5)
c.6026del (p.Cys2009LeufsTer5)
c.1462del
c.6134del (p.Cys2045LeufsTer5)
n.417del
c.6098del (p.Cys2033LeufsTer5)
c.185del (p.Cys62LeufsTer5)
c.289del
c.6185del (p.Cys2062LeufsTer5)
c.6032del (p.Cys2011LeufsTer5)
c.5819del (p.Cys1940LeufsTer5)
c.5999del (p.Cys2000LeufsTer5)
 gnomAD v4
12g.80358710G>ACA385888739OTOGLc.6161G>A (p.Cys2054Tyr)
c.101G>A (p.Cys34Tyr)
c.6026G>A (p.Cys2009Tyr)
c.1462G>A
c.6134G>A (p.Cys2045Tyr)
n.417G>A
c.6098G>A (p.Cys2033Tyr)
c.185G>A (p.Cys62Tyr)
c.289G>A
c.6185G>A (p.Cys2062Tyr)
c.6032G>A (p.Cys2011Tyr)
c.5819G>A (p.Cys1940Tyr)
c.5999G>A (p.Cys2000Tyr)
 ClinVar dbSNP
12g.80358710G>CCA385888740OTOGLc.6161G>C (p.Cys2054Ser)
c.101G>C (p.Cys34Ser)
c.6026G>C (p.Cys2009Ser)
c.1462G>C
c.6134G>C (p.Cys2045Ser)
n.417G>C
c.6098G>C (p.Cys2033Ser)
c.185G>C (p.Cys62Ser)
c.289G>C
c.6185G>C (p.Cys2062Ser)
c.6032G>C (p.Cys2011Ser)
c.5819G>C (p.Cys1940Ser)
c.5999G>C (p.Cys2000Ser)
12g.80358710G=CA2049208498OTOGLc.6161G= (p.Cys2054=)
c.101G= (p.Cys34=)
c.6026G= (p.Cys2009=)
c.1462G=
c.6134G= (p.Cys2045=)
n.417G=
c.6098G= (p.Cys2033=)
c.185G= (p.Cys62=)
c.289G=
c.6185G= (p.Cys2062=)
c.6032G= (p.Cys2011=)
c.5819G= (p.Cys1940=)
c.5999G= (p.Cys2000=)
12g.80358710G>TCA240239674OTOGLc.6161G>T (p.Cys2054Phe)
c.101G>T (p.Cys34Phe)
c.6026G>T (p.Cys2009Phe)
c.1462G>T
c.6134G>T (p.Cys2045Phe)
n.417G>T
c.6098G>T (p.Cys2033Phe)
c.185G>T (p.Cys62Phe)
c.289G>T
c.6185G>T (p.Cys2062Phe)
c.6032G>T (p.Cys2011Phe)
c.5819G>T (p.Cys1940Phe)
c.5999G>T (p.Cys2000Phe)
 dbSNP gnomAD v4
12g.80358711T>ACA385888741OTOGLc.6162T>A (p.Cys2054Ter)
c.102T>A (p.Cys34Ter)
c.6027T>A (p.Cys2009Ter)
c.1463T>A
c.6135T>A (p.Cys2045Ter)
n.418T>A
c.6099T>A (p.Cys2033Ter)
c.186T>A (p.Cys62Ter)
c.290T>A
c.6186T>A (p.Cys2062Ter)
c.6033T>A (p.Cys2011Ter)
c.5820T>A (p.Cys1940Ter)
c.6000T>A (p.Cys2000Ter)
12g.80358711T>CCA480823221OTOGLc.6162T>C (p.Cys2054=)
c.102T>C (p.Cys34=)
c.6027T>C (p.Cys2009=)
c.1463T>C
c.6135T>C (p.Cys2045=)
n.418T>C
c.6099T>C (p.Cys2033=)
c.186T>C (p.Cys62=)
c.290T>C
c.6186T>C (p.Cys2062=)
c.6033T>C (p.Cys2011=)
c.5820T>C (p.Cys1940=)
c.6000T>C (p.Cys2000=)
12g.80358711T>GCA385888742OTOGLc.6162T>G (p.Cys2054Trp)
c.102T>G (p.Cys34Trp)
c.6027T>G (p.Cys2009Trp)
c.1463T>G
c.6135T>G (p.Cys2045Trp)
n.418T>G
c.6099T>G (p.Cys2033Trp)
c.186T>G (p.Cys62Trp)
c.290T>G
c.6186T>G (p.Cys2062Trp)
c.6033T>G (p.Cys2011Trp)
c.5820T>G (p.Cys1940Trp)
c.6000T>G (p.Cys2000Trp)
12g.80358712G>ACA385888743OTOGLc.6163G>A (p.Ala2055Thr)
c.103G>A (p.Ala35Thr)
c.6028G>A (p.Ala2010Thr)
c.1464G>A
c.6136G>A (p.Ala2046Thr)
n.419G>A
c.6100G>A (p.Ala2034Thr)
c.187G>A (p.Ala63Thr)
c.291G>A
c.6187G>A (p.Ala2063Thr)
c.6034G>A (p.Ala2012Thr)
c.5821G>A (p.Ala1941Thr)
c.6001G>A (p.Ala2001Thr)
12g.80358712G>CCA385888744OTOGLc.6163G>C (p.Ala2055Pro)
c.103G>C (p.Ala35Pro)
c.6028G>C (p.Ala2010Pro)
c.1464G>C
c.6136G>C (p.Ala2046Pro)
n.419G>C
c.6100G>C (p.Ala2034Pro)
c.187G>C (p.Ala63Pro)
c.291G>C
c.6187G>C (p.Ala2063Pro)
c.6034G>C (p.Ala2012Pro)
c.5821G>C (p.Ala1941Pro)
c.6001G>C (p.Ala2001Pro)
12g.80358712G>TCA385888745OTOGLc.6163G>T (p.Ala2055Ser)
c.103G>T (p.Ala35Ser)
c.6028G>T (p.Ala2010Ser)
c.1464G>T
c.6136G>T (p.Ala2046Ser)
n.419G>T
c.6100G>T (p.Ala2034Ser)
c.187G>T (p.Ala63Ser)
c.291G>T
c.6187G>T (p.Ala2063Ser)
c.6034G>T (p.Ala2012Ser)
c.5821G>T (p.Ala1941Ser)
c.6001G>T (p.Ala2001Ser)
12g.80358713C>ACA240239692OTOGLc.6164C>A (p.Ala2055Glu)
c.104C>A (p.Ala35Glu)
c.6029C>A (p.Ala2010Glu)
c.1465C>A
c.6137C>A (p.Ala2046Glu)
n.420C>A
c.6101C>A (p.Ala2034Glu)
c.188C>A (p.Ala63Glu)
c.292C>A
c.6188C>A (p.Ala2063Glu)
c.6035C>A (p.Ala2012Glu)
c.5822C>A (p.Ala1941Glu)
c.6002C>A (p.Ala2001Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358713C=CA2049208499OTOGLc.6164C= (p.Ala2055=)
c.104C= (p.Ala35=)
c.6029C= (p.Ala2010=)
c.1465C=
c.6137C= (p.Ala2046=)
n.420C=
c.6101C= (p.Ala2034=)
c.188C= (p.Ala63=)
c.292C=
c.6188C= (p.Ala2063=)
c.6035C= (p.Ala2012=)
c.5822C= (p.Ala1941=)
c.6002C= (p.Ala2001=)
12g.80358713C>GCA385888746OTOGLc.6164C>G (p.Ala2055Gly)
c.104C>G (p.Ala35Gly)
c.6029C>G (p.Ala2010Gly)
c.1465C>G
c.6137C>G (p.Ala2046Gly)
n.420C>G
c.6101C>G (p.Ala2034Gly)
c.188C>G (p.Ala63Gly)
c.292C>G
c.6188C>G (p.Ala2063Gly)
c.6035C>G (p.Ala2012Gly)
c.5822C>G (p.Ala1941Gly)
c.6002C>G (p.Ala2001Gly)
12g.80358713C>TCA385888747OTOGLc.6164C>T (p.Ala2055Val)
c.104C>T (p.Ala35Val)
c.6029C>T (p.Ala2010Val)
c.1465C>T
c.6137C>T (p.Ala2046Val)
n.420C>T
c.6101C>T (p.Ala2034Val)
c.188C>T (p.Ala63Val)
c.292C>T
c.6188C>T (p.Ala2063Val)
c.6035C>T (p.Ala2012Val)
c.5822C>T (p.Ala1941Val)
c.6002C>T (p.Ala2001Val)
12g.80358714A=CA2049208500OTOGLc.6165A= (p.Ala2055=)
c.105A= (p.Ala35=)
c.6030A= (p.Ala2010=)
c.1466A=
c.6138A= (p.Ala2046=)
n.421A=
c.6102A= (p.Ala2034=)
c.189A= (p.Ala63=)
c.293A=
c.6189A= (p.Ala2063=)
c.6036A= (p.Ala2012=)
c.5823A= (p.Ala1941=)
c.6003A= (p.Ala2001=)
12g.80358714A>CCA480823237OTOGLc.6165A>C (p.Ala2055=)
c.105A>C (p.Ala35=)
c.6030A>C (p.Ala2010=)
c.1466A>C
c.6138A>C (p.Ala2046=)
n.421A>C
c.6102A>C (p.Ala2034=)
c.189A>C (p.Ala63=)
c.293A>C
c.6189A>C (p.Ala2063=)
c.6036A>C (p.Ala2012=)
c.5823A>C (p.Ala1941=)
c.6003A>C (p.Ala2001=)
12g.80358714A>GCA6701934OTOGLc.6165A>G (p.Ala2055=)
c.105A>G (p.Ala35=)
c.6030A>G (p.Ala2010=)
c.1466A>G
c.6138A>G (p.Ala2046=)
n.421A>G
c.6102A>G (p.Ala2034=)
c.189A>G (p.Ala63=)
c.293A>G
c.6189A>G (p.Ala2063=)
c.6036A>G (p.Ala2012=)
c.5823A>G (p.Ala1941=)
c.6003A>G (p.Ala2001=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358714A>TCA480823241OTOGLc.6165A>T (p.Ala2055=)
c.105A>T (p.Ala35=)
c.6030A>T (p.Ala2010=)
c.1466A>T
c.6138A>T (p.Ala2046=)
n.421A>T
c.6102A>T (p.Ala2034=)
c.189A>T (p.Ala63=)
c.293A>T
c.6189A>T (p.Ala2063=)
c.6036A>T (p.Ala2012=)
c.5823A>T (p.Ala1941=)
c.6003A>T (p.Ala2001=)
12g.80358715G>ACA385888750OTOGLc.6166G>A (p.Glu2056Lys)
c.106G>A (p.Glu36Lys)
c.6031G>A (p.Glu2011Lys)
c.1467G>A
c.6139G>A (p.Glu2047Lys)
n.422G>A
c.6103G>A (p.Glu2035Lys)
c.190G>A (p.Glu64Lys)
c.294G>A
c.6190G>A (p.Glu2064Lys)
c.6037G>A (p.Glu2013Lys)
c.5824G>A (p.Glu1942Lys)
c.6004G>A (p.Glu2002Lys)
 COSMIC COSMIC
12g.80358715G>CCA385888749OTOGLc.6166G>C (p.Glu2056Gln)
c.106G>C (p.Glu36Gln)
c.6031G>C (p.Glu2011Gln)
c.1467G>C
c.6139G>C (p.Glu2047Gln)
n.422G>C
c.6103G>C (p.Glu2035Gln)
c.190G>C (p.Glu64Gln)
c.294G>C
c.6190G>C (p.Glu2064Gln)
c.6037G>C (p.Glu2013Gln)
c.5824G>C (p.Glu1942Gln)
c.6004G>C (p.Glu2002Gln)
12g.80358715G>TCA385888748OTOGLc.6166G>T (p.Glu2056Ter)
c.106G>T (p.Glu36Ter)
c.6031G>T (p.Glu2011Ter)
c.1467G>T
c.6139G>T (p.Glu2047Ter)
n.422G>T
c.6103G>T (p.Glu2035Ter)
c.190G>T (p.Glu64Ter)
c.294G>T
c.6190G>T (p.Glu2064Ter)
c.6037G>T (p.Glu2013Ter)
c.5824G>T (p.Glu1942Ter)
c.6004G>T (p.Glu2002Ter)
12g.80358716A>CCA385888751OTOGLc.6167A>C (p.Glu2056Ala)
c.107A>C (p.Glu36Ala)
c.6032A>C (p.Glu2011Ala)
c.1468A>C
c.6140A>C (p.Glu2047Ala)
n.423A>C
c.6104A>C (p.Glu2035Ala)
c.191A>C (p.Glu64Ala)
c.295A>C
c.6191A>C (p.Glu2064Ala)
c.6038A>C (p.Glu2013Ala)
c.5825A>C (p.Glu1942Ala)
c.6005A>C (p.Glu2002Ala)
12g.80358716A>GCA385888752OTOGLc.6167A>G (p.Glu2056Gly)
c.107A>G (p.Glu36Gly)
c.6032A>G (p.Glu2011Gly)
c.1468A>G
c.6140A>G (p.Glu2047Gly)
n.423A>G
c.6104A>G (p.Glu2035Gly)
c.191A>G (p.Glu64Gly)
c.295A>G
c.6191A>G (p.Glu2064Gly)
c.6038A>G (p.Glu2013Gly)
c.5825A>G (p.Glu1942Gly)
c.6005A>G (p.Glu2002Gly)
12g.80358716A>TCA385888753OTOGLc.6167A>T (p.Glu2056Val)
c.107A>T (p.Glu36Val)
c.6032A>T (p.Glu2011Val)
c.1468A>T
c.6140A>T (p.Glu2047Val)
n.423A>T
c.6104A>T (p.Glu2035Val)
c.191A>T (p.Glu64Val)
c.295A>T
c.6191A>T (p.Glu2064Val)
c.6038A>T (p.Glu2013Val)
c.5825A>T (p.Glu1942Val)
c.6005A>T (p.Glu2002Val)
12g.80358717A>CCA385888754OTOGLc.6168A>C (p.Glu2056Asp)
c.108A>C (p.Glu36Asp)
c.6033A>C (p.Glu2011Asp)
c.1469A>C
c.6141A>C (p.Glu2047Asp)
n.424A>C
c.6105A>C (p.Glu2035Asp)
c.192A>C (p.Glu64Asp)
c.296A>C
c.6192A>C (p.Glu2064Asp)
c.6039A>C (p.Glu2013Asp)
c.5826A>C (p.Glu1942Asp)
c.6006A>C (p.Glu2002Asp)
12g.80358717A>GCA480823253OTOGLc.6168A>G (p.Glu2056=)
c.108A>G (p.Glu36=)
c.6033A>G (p.Glu2011=)
c.1469A>G
c.6141A>G (p.Glu2047=)
n.424A>G
c.6105A>G (p.Glu2035=)
c.192A>G (p.Glu64=)
c.296A>G
c.6192A>G (p.Glu2064=)
c.6039A>G (p.Glu2013=)
c.5826A>G (p.Glu1942=)
c.6006A>G (p.Glu2002=)
12g.80358717A>TCA385888755OTOGLc.6168A>T (p.Glu2056Asp)
c.108A>T (p.Glu36Asp)
c.6033A>T (p.Glu2011Asp)
c.1469A>T
c.6141A>T (p.Glu2047Asp)
n.424A>T
c.6105A>T (p.Glu2035Asp)
c.192A>T (p.Glu64Asp)
c.296A>T
c.6192A>T (p.Glu2064Asp)
c.6039A>T (p.Glu2013Asp)
c.5826A>T (p.Glu1942Asp)
c.6006A>T (p.Glu2002Asp)
12g.80358718G>ACA385888756OTOGLc.6169G>A (p.Asp2057Asn)
c.109G>A (p.Asp37Asn)
c.6034G>A (p.Asp2012Asn)
c.1470G>A
c.6142G>A (p.Asp2048Asn)
n.425G>A
c.6106G>A (p.Asp2036Asn)
c.193G>A (p.Asp65Asn)
c.297G>A
c.6193G>A (p.Asp2065Asn)
c.6040G>A (p.Asp2014Asn)
c.5827G>A (p.Asp1943Asn)
c.6007G>A (p.Asp2003Asn)
 COSMIC COSMIC
12g.80358718G>CCA385888757OTOGLc.6169G>C (p.Asp2057His)
c.109G>C (p.Asp37His)
c.6034G>C (p.Asp2012His)
c.1470G>C
c.6142G>C (p.Asp2048His)
n.425G>C
c.6106G>C (p.Asp2036His)
c.193G>C (p.Asp65His)
c.297G>C
c.6193G>C (p.Asp2065His)
c.6040G>C (p.Asp2014His)
c.5827G>C (p.Asp1943His)
c.6007G>C (p.Asp2003His)
12g.80358718G>TCA385888758OTOGLc.6169G>T (p.Asp2057Tyr)
c.109G>T (p.Asp37Tyr)
c.6034G>T (p.Asp2012Tyr)
c.1470G>T
c.6142G>T (p.Asp2048Tyr)
n.425G>T
c.6106G>T (p.Asp2036Tyr)
c.193G>T (p.Asp65Tyr)
c.297G>T
c.6193G>T (p.Asp2065Tyr)
c.6040G>T (p.Asp2014Tyr)
c.5827G>T (p.Asp1943Tyr)
c.6007G>T (p.Asp2003Tyr)
12g.80358719A>CCA385888759OTOGLc.6170A>C (p.Asp2057Ala)
c.110A>C (p.Asp37Ala)
c.6035A>C (p.Asp2012Ala)
c.1471A>C
c.6143A>C (p.Asp2048Ala)
n.426A>C
c.6107A>C (p.Asp2036Ala)
c.194A>C (p.Asp65Ala)
c.298A>C
c.6194A>C (p.Asp2065Ala)
c.6041A>C (p.Asp2014Ala)
c.5828A>C (p.Asp1943Ala)
c.6008A>C (p.Asp2003Ala)
12g.80358719A>GCA385888760OTOGLc.6170A>G (p.Asp2057Gly)
c.110A>G (p.Asp37Gly)
c.6035A>G (p.Asp2012Gly)
c.1471A>G
c.6143A>G (p.Asp2048Gly)
n.426A>G
c.6107A>G (p.Asp2036Gly)
c.194A>G (p.Asp65Gly)
c.298A>G
c.6194A>G (p.Asp2065Gly)
c.6041A>G (p.Asp2014Gly)
c.5828A>G (p.Asp1943Gly)
c.6008A>G (p.Asp2003Gly)
 gnomAD v4
12g.80358719A>TCA385888761OTOGLc.6170A>T (p.Asp2057Val)
c.110A>T (p.Asp37Val)
c.6035A>T (p.Asp2012Val)
c.1471A>T
c.6143A>T (p.Asp2048Val)
n.426A>T
c.6107A>T (p.Asp2036Val)
c.194A>T (p.Asp65Val)
c.298A>T
c.6194A>T (p.Asp2065Val)
c.6041A>T (p.Asp2014Val)
c.5828A>T (p.Asp1943Val)
c.6008A>T (p.Asp2003Val)
12g.80358720T>ACA385888762OTOGLc.6171T>A (p.Asp2057Glu)
c.111T>A (p.Asp37Glu)
c.6036T>A (p.Asp2012Glu)
c.1472T>A
c.6144T>A (p.Asp2048Glu)
n.427T>A
c.6108T>A (p.Asp2036Glu)
c.195T>A (p.Asp65Glu)
c.299T>A
c.6195T>A (p.Asp2065Glu)
c.6042T>A (p.Asp2014Glu)
c.5829T>A (p.Asp1943Glu)
c.6009T>A (p.Asp2003Glu)
 dbSNP
12g.80358720T>CCA480823269OTOGLc.6171T>C (p.Asp2057=)
c.111T>C (p.Asp37=)
c.6036T>C (p.Asp2012=)
c.1472T>C
c.6144T>C (p.Asp2048=)
n.427T>C
c.6108T>C (p.Asp2036=)
c.195T>C (p.Asp65=)
c.299T>C
c.6195T>C (p.Asp2065=)
c.6042T>C (p.Asp2014=)
c.5829T>C (p.Asp1943=)
c.6009T>C (p.Asp2003=)
12g.80358720T>GCA385888763OTOGLc.6171T>G (p.Asp2057Glu)
c.111T>G (p.Asp37Glu)
c.6036T>G (p.Asp2012Glu)
c.1472T>G
c.6144T>G (p.Asp2048Glu)
n.427T>G
c.6108T>G (p.Asp2036Glu)
c.195T>G (p.Asp65Glu)
c.299T>G
c.6195T>G (p.Asp2065Glu)
c.6042T>G (p.Asp2014Glu)
c.5829T>G (p.Asp1943Glu)
c.6009T>G (p.Asp2003Glu)
12g.80358720T=CA2049208501OTOGLc.6171T= (p.Asp2057=)
c.111T= (p.Asp37=)
c.6036T= (p.Asp2012=)
c.1472T=
c.6144T= (p.Asp2048=)
n.427T=
c.6108T= (p.Asp2036=)
c.195T= (p.Asp65=)
c.299T=
c.6195T= (p.Asp2065=)
c.6042T= (p.Asp2014=)
c.5829T= (p.Asp1943=)
c.6009T= (p.Asp2003=)
12g.80358721A=CA2049208502OTOGLc.6172A= (p.Met2058=)
c.112A= (p.Met38=)
c.6037A= (p.Met2013=)
c.1473A=
c.6145A= (p.Met2049=)
n.428A=
c.6109A= (p.Met2037=)
c.196A= (p.Met66=)
c.300A=
c.6196A= (p.Met2066=)
c.6043A= (p.Met2015=)
c.5830A= (p.Met1944=)
c.6010A= (p.Met2004=)
12g.80358721A>CCA385888766OTOGLc.6172A>C (p.Met2058Leu)
c.112A>C (p.Met38Leu)
c.6037A>C (p.Met2013Leu)
c.1473A>C
c.6145A>C (p.Met2049Leu)
n.428A>C
c.6109A>C (p.Met2037Leu)
c.196A>C (p.Met66Leu)
c.300A>C
c.6196A>C (p.Met2066Leu)
c.6043A>C (p.Met2015Leu)
c.5830A>C (p.Met1944Leu)
c.6010A>C (p.Met2004Leu)
12g.80358721A>GCA385888765OTOGLc.6172A>G (p.Met2058Val)
c.112A>G (p.Met38Val)
c.6037A>G (p.Met2013Val)
c.1473A>G
c.6145A>G (p.Met2049Val)
n.428A>G
c.6109A>G (p.Met2037Val)
c.196A>G (p.Met66Val)
c.300A>G
c.6196A>G (p.Met2066Val)
c.6043A>G (p.Met2015Val)
c.5830A>G (p.Met1944Val)
c.6010A>G (p.Met2004Val)
 dbSNP gnomAD v2 gnomAD v4
12g.80358721A>TCA385888764OTOGLc.6172A>T (p.Met2058Leu)
c.112A>T (p.Met38Leu)
c.6037A>T (p.Met2013Leu)
c.1473A>T
c.6145A>T (p.Met2049Leu)
n.428A>T
c.6109A>T (p.Met2037Leu)
c.196A>T (p.Met66Leu)
c.300A>T
c.6196A>T (p.Met2066Leu)
c.6043A>T (p.Met2015Leu)
c.5830A>T (p.Met1944Leu)
c.6010A>T (p.Met2004Leu)
12g.80358722T>ACA385888767OTOGLc.6173T>A (p.Met2058Lys)
c.113T>A (p.Met38Lys)
c.6038T>A (p.Met2013Lys)
c.1474T>A
c.6146T>A (p.Met2049Lys)
n.429T>A
c.6110T>A (p.Met2037Lys)
c.197T>A (p.Met66Lys)
c.301T>A
c.6197T>A (p.Met2066Lys)
c.6044T>A (p.Met2015Lys)
c.5831T>A (p.Met1944Lys)
c.6011T>A (p.Met2004Lys)
12g.80358722T>CCA6701935OTOGLc.6173T>C (p.Met2058Thr)
c.113T>C (p.Met38Thr)
c.6038T>C (p.Met2013Thr)
c.1474T>C
c.6146T>C (p.Met2049Thr)
n.429T>C
c.6110T>C (p.Met2037Thr)
c.197T>C (p.Met66Thr)
c.301T>C
c.6197T>C (p.Met2066Thr)
c.6044T>C (p.Met2015Thr)
c.5831T>C (p.Met1944Thr)
c.6011T>C (p.Met2004Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358722T>GCA385888768OTOGLc.6173T>G (p.Met2058Arg)
c.113T>G (p.Met38Arg)
c.6038T>G (p.Met2013Arg)
c.1474T>G
c.6146T>G (p.Met2049Arg)
n.429T>G
c.6110T>G (p.Met2037Arg)
c.197T>G (p.Met66Arg)
c.301T>G
c.6197T>G (p.Met2066Arg)
c.6044T>G (p.Met2015Arg)
c.5831T>G (p.Met1944Arg)
c.6011T>G (p.Met2004Arg)
12g.80358722T=CA2049208503OTOGLc.6173T= (p.Met2058=)
c.113T= (p.Met38=)
c.6038T= (p.Met2013=)
c.1474T=
c.6146T= (p.Met2049=)
n.429T=
c.6110T= (p.Met2037=)
c.197T= (p.Met66=)
c.301T=
c.6197T= (p.Met2066=)
c.6044T= (p.Met2015=)
c.5831T= (p.Met1944=)
c.6011T= (p.Met2004=)
12g.80358723G>ACA385888769OTOGLc.6174G>A (p.Met2058Ile)
c.114G>A (p.Met38Ile)
c.6039G>A (p.Met2013Ile)
c.1475G>A
c.6147G>A (p.Met2049Ile)
n.430G>A
c.6111G>A (p.Met2037Ile)
c.198G>A (p.Met66Ile)
c.302G>A
c.6198G>A (p.Met2066Ile)
c.6045G>A (p.Met2015Ile)
c.5832G>A (p.Met1944Ile)
c.6012G>A (p.Met2004Ile)
12g.80358723G>CCA385888770OTOGLc.6174G>C (p.Met2058Ile)
c.114G>C (p.Met38Ile)
c.6039G>C (p.Met2013Ile)
c.1475G>C
c.6147G>C (p.Met2049Ile)
n.430G>C
c.6111G>C (p.Met2037Ile)
c.198G>C (p.Met66Ile)
c.302G>C
c.6198G>C (p.Met2066Ile)
c.6045G>C (p.Met2015Ile)
c.5832G>C (p.Met1944Ile)
c.6012G>C (p.Met2004Ile)
12g.80358723G>TCA385888771OTOGLc.6174G>T (p.Met2058Ile)
c.114G>T (p.Met38Ile)
c.6039G>T (p.Met2013Ile)
c.1475G>T
c.6147G>T (p.Met2049Ile)
n.430G>T
c.6111G>T (p.Met2037Ile)
c.198G>T (p.Met66Ile)
c.302G>T
c.6198G>T (p.Met2066Ile)
c.6045G>T (p.Met2015Ile)
c.5832G>T (p.Met1944Ile)
c.6012G>T (p.Met2004Ile)
12g.80358724A=CA2049208504OTOGLc.6175A= (p.Asn2059=)
c.115A= (p.Asn39=)
c.6040A= (p.Asn2014=)
c.1476A=
c.6148A= (p.Asn2050=)
n.431A=
c.6112A= (p.Asn2038=)
c.199A= (p.Asn67=)
c.303A=
c.6199A= (p.Asn2067=)
c.6046A= (p.Asn2016=)
c.5833A= (p.Asn1945=)
c.6013A= (p.Asn2005=)
12g.80358724A>CCA385888772OTOGLc.6175A>C (p.Asn2059His)
c.115A>C (p.Asn39His)
c.6040A>C (p.Asn2014His)
c.1476A>C
c.6148A>C (p.Asn2050His)
n.431A>C
c.6112A>C (p.Asn2038His)
c.199A>C (p.Asn67His)
c.303A>C
c.6199A>C (p.Asn2067His)
c.6046A>C (p.Asn2016His)
c.5833A>C (p.Asn1945His)
c.6013A>C (p.Asn2005His)
12g.80358724A>GCA240239694OTOGLc.6175A>G (p.Asn2059Asp)
c.115A>G (p.Asn39Asp)
c.6040A>G (p.Asn2014Asp)
c.1476A>G
c.6148A>G (p.Asn2050Asp)
n.431A>G
c.6112A>G (p.Asn2038Asp)
c.199A>G (p.Asn67Asp)
c.303A>G
c.6199A>G (p.Asn2067Asp)
c.6046A>G (p.Asn2016Asp)
c.5833A>G (p.Asn1945Asp)
c.6013A>G (p.Asn2005Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358724A>TCA385888773OTOGLc.6175A>T (p.Asn2059Tyr)
c.115A>T (p.Asn39Tyr)
c.6040A>T (p.Asn2014Tyr)
c.1476A>T
c.6148A>T (p.Asn2050Tyr)
n.431A>T
c.6112A>T (p.Asn2038Tyr)
c.199A>T (p.Asn67Tyr)
c.303A>T
c.6199A>T (p.Asn2067Tyr)
c.6046A>T (p.Asn2016Tyr)
c.5833A>T (p.Asn1945Tyr)
c.6013A>T (p.Asn2005Tyr)
12g.80358725A>CCA385888774OTOGLc.6176A>C (p.Asn2059Thr)
c.116A>C (p.Asn39Thr)
c.6041A>C (p.Asn2014Thr)
c.1477A>C
c.6149A>C (p.Asn2050Thr)
n.432A>C
c.6113A>C (p.Asn2038Thr)
c.200A>C (p.Asn67Thr)
c.304A>C
c.6200A>C (p.Asn2067Thr)
c.6047A>C (p.Asn2016Thr)
c.5834A>C (p.Asn1945Thr)
c.6014A>C (p.Asn2005Thr)
12g.80358725A>GCA385888775OTOGLc.6176A>G (p.Asn2059Ser)
c.116A>G (p.Asn39Ser)
c.6041A>G (p.Asn2014Ser)
c.1477A>G
c.6149A>G (p.Asn2050Ser)
n.432A>G
c.6113A>G (p.Asn2038Ser)
c.200A>G (p.Asn67Ser)
c.304A>G
c.6200A>G (p.Asn2067Ser)
c.6047A>G (p.Asn2016Ser)
c.5834A>G (p.Asn1945Ser)
c.6014A>G (p.Asn2005Ser)
12g.80358725A>TCA385888776OTOGLc.6176A>T (p.Asn2059Ile)
c.116A>T (p.Asn39Ile)
c.6041A>T (p.Asn2014Ile)
c.1477A>T
c.6149A>T (p.Asn2050Ile)
n.432A>T
c.6113A>T (p.Asn2038Ile)
c.200A>T (p.Asn67Ile)
c.304A>T
c.6200A>T (p.Asn2067Ile)
c.6047A>T (p.Asn2016Ile)
c.5834A>T (p.Asn1945Ile)
c.6014A>T (p.Asn2005Ile)
12g.80358726T>ACA385888777OTOGLc.6177T>A (p.Asn2059Lys)
c.117T>A (p.Asn39Lys)
c.6042T>A (p.Asn2014Lys)
c.1478T>A
c.6150T>A (p.Asn2050Lys)
n.433T>A
c.6114T>A (p.Asn2038Lys)
c.201T>A (p.Asn67Lys)
c.305T>A
c.6201T>A (p.Asn2067Lys)
c.6048T>A (p.Asn2016Lys)
c.5835T>A (p.Asn1945Lys)
c.6015T>A (p.Asn2005Lys)
12g.80358726T>CCA480823299OTOGLc.6177T>C (p.Asn2059=)
c.117T>C (p.Asn39=)
c.6042T>C (p.Asn2014=)
c.1478T>C
c.6150T>C (p.Asn2050=)
n.433T>C
c.6114T>C (p.Asn2038=)
c.201T>C (p.Asn67=)
c.305T>C
c.6201T>C (p.Asn2067=)
c.6048T>C (p.Asn2016=)
c.5835T>C (p.Asn1945=)
c.6015T>C (p.Asn2005=)
 gnomAD v4
12g.80358726T>GCA385888778OTOGLc.6177T>G (p.Asn2059Lys)
c.117T>G (p.Asn39Lys)
c.6042T>G (p.Asn2014Lys)
c.1478T>G
c.6150T>G (p.Asn2050Lys)
n.433T>G
c.6114T>G (p.Asn2038Lys)
c.201T>G (p.Asn67Lys)
c.305T>G
c.6201T>G (p.Asn2067Lys)
c.6048T>G (p.Asn2016Lys)
c.5835T>G (p.Asn1945Lys)
c.6015T>G (p.Asn2005Lys)
12g.80358727C>ACA385888781OTOGLc.6178C>A (p.Leu2060Ile)
c.118C>A (p.Leu40Ile)
c.6043C>A (p.Leu2015Ile)
c.1479C>A
c.6151C>A (p.Leu2051Ile)
n.434C>A
c.6115C>A (p.Leu2039Ile)
c.202C>A (p.Leu68Ile)
c.306C>A
c.6202C>A (p.Leu2068Ile)
c.6049C>A (p.Leu2017Ile)
c.5836C>A (p.Leu1946Ile)
c.6016C>A (p.Leu2006Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.80358727C=CA2049208505OTOGLc.6178C= (p.Leu2060=)
c.118C= (p.Leu40=)
c.6043C= (p.Leu2015=)
c.1479C=
c.6151C= (p.Leu2051=)
n.434C=
c.6115C= (p.Leu2039=)
c.202C= (p.Leu68=)
c.306C=
c.6202C= (p.Leu2068=)
c.6049C= (p.Leu2017=)
c.5836C= (p.Leu1946=)
c.6016C= (p.Leu2006=)
12g.80358727C>GCA385888780OTOGLc.6178C>G (p.Leu2060Val)
c.118C>G (p.Leu40Val)
c.6043C>G (p.Leu2015Val)
c.1479C>G
c.6151C>G (p.Leu2051Val)
n.434C>G
c.6115C>G (p.Leu2039Val)
c.202C>G (p.Leu68Val)
c.306C>G
c.6202C>G (p.Leu2068Val)
c.6049C>G (p.Leu2017Val)
c.5836C>G (p.Leu1946Val)
c.6016C>G (p.Leu2006Val)
 dbSNP gnomAD v3 gnomAD v4
12g.80358727C>TCA385888779OTOGLc.6178C>T (p.Leu2060Phe)
c.118C>T (p.Leu40Phe)
c.6043C>T (p.Leu2015Phe)
c.1479C>T
c.6151C>T (p.Leu2051Phe)
n.434C>T
c.6115C>T (p.Leu2039Phe)
c.202C>T (p.Leu68Phe)
c.306C>T
c.6202C>T (p.Leu2068Phe)
c.6049C>T (p.Leu2017Phe)
c.5836C>T (p.Leu1946Phe)
c.6016C>T (p.Leu2006Phe)
12g.80358728T>ACA385888782OTOGLc.6179T>A (p.Leu2060His)
c.119T>A (p.Leu40His)
c.6044T>A (p.Leu2015His)
c.1480T>A
c.6152T>A (p.Leu2051His)
n.435T>A
c.6116T>A (p.Leu2039His)
c.203T>A (p.Leu68His)
c.307T>A
c.6203T>A (p.Leu2068His)
c.6050T>A (p.Leu2017His)
c.5837T>A (p.Leu1946His)
c.6017T>A (p.Leu2006His)
12g.80358728T>CCA385888783OTOGLc.6179T>C (p.Leu2060Pro)
c.119T>C (p.Leu40Pro)
c.6044T>C (p.Leu2015Pro)
c.1480T>C
c.6152T>C (p.Leu2051Pro)
n.435T>C
c.6116T>C (p.Leu2039Pro)
c.203T>C (p.Leu68Pro)
c.307T>C
c.6203T>C (p.Leu2068Pro)
c.6050T>C (p.Leu2017Pro)
c.5837T>C (p.Leu1946Pro)
c.6017T>C (p.Leu2006Pro)
12g.80358728T>GCA385888784OTOGLc.6179T>G (p.Leu2060Arg)
c.119T>G (p.Leu40Arg)
c.6044T>G (p.Leu2015Arg)
c.1480T>G
c.6152T>G (p.Leu2051Arg)
n.435T>G
c.6116T>G (p.Leu2039Arg)
c.203T>G (p.Leu68Arg)
c.307T>G
c.6203T>G (p.Leu2068Arg)
c.6050T>G (p.Leu2017Arg)
c.5837T>G (p.Leu1946Arg)
c.6017T>G (p.Leu2006Arg)
12g.80358729T>ACA480823315OTOGLc.6180T>A (p.Leu2060=)
c.120T>A (p.Leu40=)
c.6045T>A (p.Leu2015=)
c.1481T>A
c.6153T>A (p.Leu2051=)
n.436T>A
c.6117T>A (p.Leu2039=)
c.204T>A (p.Leu68=)
c.308T>A
c.6204T>A (p.Leu2068=)
c.6051T>A (p.Leu2017=)
c.5838T>A (p.Leu1946=)
c.6018T>A (p.Leu2006=)
12g.80358729T>CCA480823317OTOGLc.6180T>C (p.Leu2060=)
c.120T>C (p.Leu40=)
c.6045T>C (p.Leu2015=)
c.1481T>C
c.6153T>C (p.Leu2051=)
n.436T>C
c.6117T>C (p.Leu2039=)
c.204T>C (p.Leu68=)
c.308T>C
c.6204T>C (p.Leu2068=)
c.6051T>C (p.Leu2017=)
c.5838T>C (p.Leu1946=)
c.6018T>C (p.Leu2006=)
12g.80358729T>GCA480823320OTOGLc.6180T>G (p.Leu2060=)
c.120T>G (p.Leu40=)
c.6045T>G (p.Leu2015=)
c.1481T>G
c.6153T>G (p.Leu2051=)
n.436T>G
c.6117T>G (p.Leu2039=)
c.204T>G (p.Leu68=)
c.308T>G
c.6204T>G (p.Leu2068=)
c.6051T>G (p.Leu2017=)
c.5838T>G (p.Leu1946=)
c.6018T>G (p.Leu2006=)
12g.80358730G>ACA385888785OTOGLc.6181G>A (p.Val2061Met)
c.121G>A (p.Val41Met)
c.6046G>A (p.Val2016Met)
c.1482G>A
c.6154G>A (p.Val2052Met)
n.437G>A
c.6118G>A (p.Val2040Met)
c.205G>A (p.Val69Met)
c.309G>A
c.6205G>A (p.Val2069Met)
c.6052G>A (p.Val2018Met)
c.5839G>A (p.Val1947Met)
c.6019G>A (p.Val2007Met)
12g.80358730G>CCA385888786OTOGLc.6181G>C (p.Val2061Leu)
c.121G>C (p.Val41Leu)
c.6046G>C (p.Val2016Leu)
c.1482G>C
c.6154G>C (p.Val2052Leu)
n.437G>C
c.6118G>C (p.Val2040Leu)
c.205G>C (p.Val69Leu)
c.309G>C
c.6205G>C (p.Val2069Leu)
c.6052G>C (p.Val2018Leu)
c.5839G>C (p.Val1947Leu)
c.6019G>C (p.Val2007Leu)
12g.80358730G>TCA385888787OTOGLc.6181G>T (p.Val2061Leu)
c.121G>T (p.Val41Leu)
c.6046G>T (p.Val2016Leu)
c.1482G>T
c.6154G>T (p.Val2052Leu)
n.437G>T
c.6118G>T (p.Val2040Leu)
c.205G>T (p.Val69Leu)
c.309G>T
c.6205G>T (p.Val2069Leu)
c.6052G>T (p.Val2018Leu)
c.5839G>T (p.Val1947Leu)
c.6019G>T (p.Val2007Leu)

Number of alleles fetched