Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.80358806_80358809delinsTATACA2049208537OTOGLc.6226+31_6226+34delinsTATA (n.6226+31_6226+34delinsTATA)
c.166+31_166+34delinsTATA (n.166+31_166+34delinsTATA)
c.6091+31_6091+34delinsTATA (n.6091+31_6091+34delinsTATA)
c.1527+31_1527+34delinsTATA
c.6199+31_6199+34delinsTATA (n.6199+31_6199+34delinsTATA)
n.482+31_482+34delinsTATA
c.6163+31_6163+34delinsTATA (n.6163+31_6163+34delinsTATA)
c.250+31_250+34delinsTATA (n.250+31_250+34delinsTATA)
c.354+31_354+34delinsTATA
c.6250+31_6250+34delinsTATA (n.6250+31_6250+34delinsTATA)
c.6097+31_6097+34delinsTATA (n.6097+31_6097+34delinsTATA)
c.5884+31_5884+34delinsTATA (n.5884+31_5884+34delinsTATA)
c.6064+31_6064+34delinsTATA (n.6064+31_6064+34delinsTATA)
12g.80358807A>GCA2620017109OTOGLc.6226+32A>G (n.6226+32A>G)
c.166+32A>G (n.166+32A>G)
c.6091+32A>G (n.6091+32A>G)
c.1527+32A>G
c.6199+32A>G (n.6199+32A>G)
n.482+32A>G
c.6163+32A>G (n.6163+32A>G)
c.250+32A>G (n.250+32A>G)
c.354+32A>G
c.6250+32A>G (n.6250+32A>G)
c.6097+32A>G (n.6097+32A>G)
c.5884+32A>G (n.5884+32A>G)
c.6064+32A>G (n.6064+32A>G)
 gnomAD v4
12g.80358811_80358813delCA2049208538OTOGLc.6226+36_6226+38del (n.6226+36_6226+38del)
c.166+36_166+38del (n.166+36_166+38del)
c.6091+36_6091+38del (n.6091+36_6091+38del)
c.1527+36_1527+38del
c.6199+36_6199+38del (n.6199+36_6199+38del)
n.482+36_482+38del
c.6163+36_6163+38del (n.6163+36_6163+38del)
c.250+36_250+38del (n.250+36_250+38del)
c.354+36_354+38del
c.6250+36_6250+38del (n.6250+36_6250+38del)
c.6097+36_6097+38del (n.6097+36_6097+38del)
c.5884+36_5884+38del (n.5884+36_5884+38del)
c.6064+36_6064+38del (n.6064+36_6064+38del)
 dbSNP
12g.80358808T>CCA6701946OTOGLc.6226+33T>C (n.6226+33T>C)
c.166+33T>C (n.166+33T>C)
c.6091+33T>C (n.6091+33T>C)
c.1527+33T>C
c.6199+33T>C (n.6199+33T>C)
n.482+33T>C
c.6163+33T>C (n.6163+33T>C)
c.250+33T>C (n.250+33T>C)
c.354+33T>C
c.6250+33T>C (n.6250+33T>C)
c.6097+33T>C (n.6097+33T>C)
c.5884+33T>C (n.5884+33T>C)
c.6064+33T>C (n.6064+33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358808T=CA2049208539OTOGLc.6226+33T= (n.6226+33T=)
c.166+33T= (n.166+33T=)
c.6091+33T= (n.6091+33T=)
c.1527+33T=
c.6199+33T= (n.6199+33T=)
n.482+33T=
c.6163+33T= (n.6163+33T=)
c.250+33T= (n.250+33T=)
c.354+33T=
c.6250+33T= (n.6250+33T=)
c.6097+33T= (n.6097+33T=)
c.5884+33T= (n.5884+33T=)
c.6064+33T= (n.6064+33T=)
12g.80358809A=CA2049208540OTOGLc.6226+34A= (n.6226+34A=)
c.166+34A= (n.166+34A=)
c.6091+34A= (n.6091+34A=)
c.1527+34A=
c.6199+34A= (n.6199+34A=)
n.482+34A=
c.6163+34A= (n.6163+34A=)
c.250+34A= (n.250+34A=)
c.354+34A=
c.6250+34A= (n.6250+34A=)
c.6097+34A= (n.6097+34A=)
c.5884+34A= (n.5884+34A=)
c.6064+34A= (n.6064+34A=)
12g.80358809A>CCA655055955OTOGLc.6226+34A>C (n.6226+34A>C)
c.166+34A>C (n.166+34A>C)
c.6091+34A>C (n.6091+34A>C)
c.1527+34A>C
c.6199+34A>C (n.6199+34A>C)
n.482+34A>C
c.6163+34A>C (n.6163+34A>C)
c.250+34A>C (n.250+34A>C)
c.354+34A>C
c.6250+34A>C (n.6250+34A>C)
c.6097+34A>C (n.6097+34A>C)
c.5884+34A>C (n.5884+34A>C)
c.6064+34A>C (n.6064+34A>C)
 COSMIC
12g.80358809A>GCA692353999OTOGLc.6226+34A>G (n.6226+34A>G)
c.166+34A>G (n.166+34A>G)
c.6091+34A>G (n.6091+34A>G)
c.1527+34A>G
c.6199+34A>G (n.6199+34A>G)
n.482+34A>G
c.6163+34A>G (n.6163+34A>G)
c.250+34A>G (n.250+34A>G)
c.354+34A>G
c.6250+34A>G (n.6250+34A>G)
c.6097+34A>G (n.6097+34A>G)
c.5884+34A>G (n.5884+34A>G)
c.6064+34A>G (n.6064+34A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.80358810delCA2620017110OTOGLc.6226+35del (n.6226+35del)
c.166+35del (n.166+35del)
c.6091+35del (n.6091+35del)
c.1527+35del
c.6199+35del (n.6199+35del)
n.482+35del
c.6163+35del (n.6163+35del)
c.250+35del (n.250+35del)
c.354+35del
c.6250+35del (n.6250+35del)
c.6097+35del (n.6097+35del)
c.5884+35del (n.5884+35del)
c.6064+35del (n.6064+35del)
 gnomAD v4
12g.80358810A=CA2049208541OTOGLc.6226+35A= (n.6226+35A=)
c.166+35A= (n.166+35A=)
c.6091+35A= (n.6091+35A=)
c.1527+35A=
c.6199+35A= (n.6199+35A=)
n.482+35A=
c.6163+35A= (n.6163+35A=)
c.250+35A= (n.250+35A=)
c.354+35A=
c.6250+35A= (n.6250+35A=)
c.6097+35A= (n.6097+35A=)
c.5884+35A= (n.5884+35A=)
c.6064+35A= (n.6064+35A=)
12g.80358810A>GCA606202926OTOGLc.6226+35A>G (n.6226+35A>G)
c.166+35A>G (n.166+35A>G)
c.6091+35A>G (n.6091+35A>G)
c.1527+35A>G
c.6199+35A>G (n.6199+35A>G)
n.482+35A>G
c.6163+35A>G (n.6163+35A>G)
c.250+35A>G (n.250+35A>G)
c.354+35A>G
c.6250+35A>G (n.6250+35A>G)
c.6097+35A>G (n.6097+35A>G)
c.5884+35A>G (n.5884+35A>G)
c.6064+35A>G (n.6064+35A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358811T>CCA606202927OTOGLc.6226+36T>C (n.6226+36T>C)
c.166+36T>C (n.166+36T>C)
c.6091+36T>C (n.6091+36T>C)
c.1527+36T>C
c.6199+36T>C (n.6199+36T>C)
n.482+36T>C
c.6163+36T>C (n.6163+36T>C)
c.250+36T>C (n.250+36T>C)
c.354+36T>C
c.6250+36T>C (n.6250+36T>C)
c.6097+36T>C (n.6097+36T>C)
c.5884+36T>C (n.5884+36T>C)
c.6064+36T>C (n.6064+36T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.80358811T>GCA2620017111OTOGLc.6226+36T>G (n.6226+36T>G)
c.166+36T>G (n.166+36T>G)
c.6091+36T>G (n.6091+36T>G)
c.1527+36T>G
c.6199+36T>G (n.6199+36T>G)
n.482+36T>G
c.6163+36T>G (n.6163+36T>G)
c.250+36T>G (n.250+36T>G)
c.354+36T>G
c.6250+36T>G (n.6250+36T>G)
c.6097+36T>G (n.6097+36T>G)
c.5884+36T>G (n.5884+36T>G)
c.6064+36T>G (n.6064+36T>G)
 gnomAD v4
12g.80358811T=CA2049208542OTOGLc.6226+36T= (n.6226+36T=)
c.166+36T= (n.166+36T=)
c.6091+36T= (n.6091+36T=)
c.1527+36T=
c.6199+36T= (n.6199+36T=)
n.482+36T=
c.6163+36T= (n.6163+36T=)
c.250+36T= (n.250+36T=)
c.354+36T=
c.6250+36T= (n.6250+36T=)
c.6097+36T= (n.6097+36T=)
c.5884+36T= (n.5884+36T=)
c.6064+36T= (n.6064+36T=)
12g.80358814G>ACA2575235847OTOGLc.6226+39G>A (n.6226+39G>A)
c.166+39G>A (n.166+39G>A)
c.6091+39G>A (n.6091+39G>A)
c.1527+39G>A
c.6199+39G>A (n.6199+39G>A)
n.482+39G>A
c.6163+39G>A (n.6163+39G>A)
c.250+39G>A (n.250+39G>A)
c.354+39G>A
c.6250+39G>A (n.6250+39G>A)
c.6097+39G>A (n.6097+39G>A)
c.5884+39G>A (n.5884+39G>A)
c.6064+39G>A (n.6064+39G>A)
 gnomAD v4
12g.80358814G>CCA6701947OTOGLc.6226+39G>C (n.6226+39G>C)
c.166+39G>C (n.166+39G>C)
c.6091+39G>C (n.6091+39G>C)
c.1527+39G>C
c.6199+39G>C (n.6199+39G>C)
n.482+39G>C
c.6163+39G>C (n.6163+39G>C)
c.250+39G>C (n.250+39G>C)
c.354+39G>C
c.6250+39G>C (n.6250+39G>C)
c.6097+39G>C (n.6097+39G>C)
c.5884+39G>C (n.5884+39G>C)
c.6064+39G>C (n.6064+39G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358814G=CA2049208543OTOGLc.6226+39G= (n.6226+39G=)
c.166+39G= (n.166+39G=)
c.6091+39G= (n.6091+39G=)
c.1527+39G=
c.6199+39G= (n.6199+39G=)
n.482+39G=
c.6163+39G= (n.6163+39G=)
c.250+39G= (n.250+39G=)
c.354+39G=
c.6250+39G= (n.6250+39G=)
c.6097+39G= (n.6097+39G=)
c.5884+39G= (n.5884+39G=)
c.6064+39G= (n.6064+39G=)
12g.80358814_80358818delinsGTTAACA2049208544OTOGLc.6226+39_6227-42delinsGTTAA (n.6226+39_6227-42delinsGTTAA)
c.166+39_167-42delinsGTTAA (n.166+39_167-42delinsGTTAA)
c.6091+39_6092-42delinsGTTAA (n.6091+39_6092-42delinsGTTAA)
c.1527+39_1527+43delinsGTTAA
c.6199+39_6200-42delinsGTTAA (n.6199+39_6200-42delinsGTTAA)
n.482+39_483-42delinsGTTAA
c.6163+39_6164-42delinsGTTAA (n.6163+39_6164-42delinsGTTAA)
c.250+39_251-42delinsGTTAA (n.250+39_251-42delinsGTTAA)
c.354+39_355-42delinsGTTAA
c.6250+39_6251-42delinsGTTAA (n.6250+39_6251-42delinsGTTAA)
c.6097+39_6098-42delinsGTTAA (n.6097+39_6098-42delinsGTTAA)
c.5884+39_5885-42delinsGTTAA (n.5884+39_5885-42delinsGTTAA)
c.6064+39_6065-42delinsGTTAA (n.6064+39_6065-42delinsGTTAA)
12g.80358818_80358821delCA2049208545OTOGLc.6227-42_6227-39del (n.6227-42_6227-39del)
c.167-42_167-39del (n.167-42_167-39del)
c.6092-42_6092-39del (n.6092-42_6092-39del)
c.1527+43_1527+46del
c.6200-42_6200-39del (n.6200-42_6200-39del)
n.483-42_483-39del
c.6164-42_6164-39del (n.6164-42_6164-39del)
c.251-42_251-39del (n.251-42_251-39del)
c.355-42_355-39del
c.6251-42_6251-39del (n.6251-42_6251-39del)
c.6098-42_6098-39del (n.6098-42_6098-39del)
c.5885-42_5885-39del (n.5885-42_5885-39del)
c.6065-42_6065-39del (n.6065-42_6065-39del)
 dbSNP
12g.80358816T>CCA2620017112OTOGLc.6226+41T>C (n.6226+41T>C)
c.166+41T>C (n.166+41T>C)
c.6091+41T>C (n.6091+41T>C)
c.1527+41T>C
c.6199+41T>C (n.6199+41T>C)
n.482+41T>C
c.6163+41T>C (n.6163+41T>C)
c.250+41T>C (n.250+41T>C)
c.354+41T>C
c.6250+41T>C (n.6250+41T>C)
c.6097+41T>C (n.6097+41T>C)
c.5884+41T>C (n.5884+41T>C)
c.6064+41T>C (n.6064+41T>C)
 gnomAD v4
12g.80358818A>GCA913749016OTOGLc.6227-42A>G (n.6227-42A>G)
c.167-42A>G (n.167-42A>G)
c.6092-42A>G (n.6092-42A>G)
c.1527+43A>G
c.6200-42A>G (n.6200-42A>G)
n.483-42A>G
c.6164-42A>G (n.6164-42A>G)
c.251-42A>G (n.251-42A>G)
c.355-42A>G
c.6251-42A>G (n.6251-42A>G)
c.6098-42A>G (n.6098-42A>G)
c.5885-42A>G (n.5885-42A>G)
c.6065-42A>G (n.6065-42A>G)
 gnomAD v2 gnomAD v4
12g.80358822T>GCA692354029OTOGLc.6227-38T>G (n.6227-38T>G)
c.167-38T>G (n.167-38T>G)
c.6092-38T>G (n.6092-38T>G)
c.1527+47T>G
c.6200-38T>G (n.6200-38T>G)
n.483-38T>G
c.6164-38T>G (n.6164-38T>G)
c.251-38T>G (n.251-38T>G)
c.355-38T>G
c.6251-38T>G (n.6251-38T>G)
c.6098-38T>G (n.6098-38T>G)
c.5885-38T>G (n.5885-38T>G)
c.6065-38T>G (n.6065-38T>G)
 dbSNP
12g.80358822T=CA2049208546OTOGLc.6227-38T= (n.6227-38T=)
c.167-38T= (n.167-38T=)
c.6092-38T= (n.6092-38T=)
c.1527+47T=
c.6200-38T= (n.6200-38T=)
n.483-38T=
c.6164-38T= (n.6164-38T=)
c.251-38T= (n.251-38T=)
c.355-38T=
c.6251-38T= (n.6251-38T=)
c.6098-38T= (n.6098-38T=)
c.5885-38T= (n.5885-38T=)
c.6065-38T= (n.6065-38T=)
12g.80358825T>CCA2049208548OTOGLc.6227-35T>C (n.6227-35T>C)
c.167-35T>C (n.167-35T>C)
c.6092-35T>C (n.6092-35T>C)
c.1527+50T>C
c.6200-35T>C (n.6200-35T>C)
n.483-35T>C
c.6164-35T>C (n.6164-35T>C)
c.251-35T>C (n.251-35T>C)
c.355-35T>C
c.6251-35T>C (n.6251-35T>C)
c.6098-35T>C (n.6098-35T>C)
c.5885-35T>C (n.5885-35T>C)
c.6065-35T>C (n.6065-35T>C)
 dbSNP
12g.80358825T=CA2049208547OTOGLc.6227-35T= (n.6227-35T=)
c.167-35T= (n.167-35T=)
c.6092-35T= (n.6092-35T=)
c.1527+50T=
c.6200-35T= (n.6200-35T=)
n.483-35T=
c.6164-35T= (n.6164-35T=)
c.251-35T= (n.251-35T=)
c.355-35T=
c.6251-35T= (n.6251-35T=)
c.6098-35T= (n.6098-35T=)
c.5885-35T= (n.5885-35T=)
c.6065-35T= (n.6065-35T=)
12g.80358826G>TCA2620017113OTOGLc.6227-34G>T (n.6227-34G>T)
c.167-34G>T (n.167-34G>T)
c.6092-34G>T (n.6092-34G>T)
c.1527+51G>T
c.6200-34G>T (n.6200-34G>T)
n.483-34G>T
c.6164-34G>T (n.6164-34G>T)
c.251-34G>T (n.251-34G>T)
c.355-34G>T
c.6251-34G>T (n.6251-34G>T)
c.6098-34G>T (n.6098-34G>T)
c.5885-34G>T (n.5885-34G>T)
c.6065-34G>T (n.6065-34G>T)
 gnomAD v4
12g.80358829C>ACA2620017114OTOGLc.6227-31C>A (n.6227-31C>A)
c.167-31C>A (n.167-31C>A)
c.6092-31C>A (n.6092-31C>A)
c.1527+54C>A
c.6200-31C>A (n.6200-31C>A)
n.483-31C>A
c.6164-31C>A (n.6164-31C>A)
c.251-31C>A (n.251-31C>A)
c.355-31C>A
c.6251-31C>A (n.6251-31C>A)
c.6098-31C>A (n.6098-31C>A)
c.5885-31C>A (n.5885-31C>A)
c.6065-31C>A (n.6065-31C>A)
 gnomAD v4
12g.80358829C>TCA2620017115OTOGLc.6227-31C>T (n.6227-31C>T)
c.167-31C>T (n.167-31C>T)
c.6092-31C>T (n.6092-31C>T)
c.1527+54C>T
c.6200-31C>T (n.6200-31C>T)
n.483-31C>T
c.6164-31C>T (n.6164-31C>T)
c.251-31C>T (n.251-31C>T)
c.355-31C>T
c.6251-31C>T (n.6251-31C>T)
c.6098-31C>T (n.6098-31C>T)
c.5885-31C>T (n.5885-31C>T)
c.6065-31C>T (n.6065-31C>T)
 gnomAD v4
12g.80358831A=CA2049208549OTOGLc.6227-29A= (n.6227-29A=)
c.167-29A= (n.167-29A=)
c.6092-29A= (n.6092-29A=)
c.1527+56A=
c.6200-29A= (n.6200-29A=)
n.483-29A=
c.6164-29A= (n.6164-29A=)
c.251-29A= (n.251-29A=)
c.355-29A=
c.6251-29A= (n.6251-29A=)
c.6098-29A= (n.6098-29A=)
c.5885-29A= (n.5885-29A=)
c.6065-29A= (n.6065-29A=)
12g.80358831A>GCA240239796OTOGLc.6227-29A>G (n.6227-29A>G)
c.167-29A>G (n.167-29A>G)
c.6092-29A>G (n.6092-29A>G)
c.1527+56A>G
c.6200-29A>G (n.6200-29A>G)
n.483-29A>G
c.6164-29A>G (n.6164-29A>G)
c.251-29A>G (n.251-29A>G)
c.355-29A>G
c.6251-29A>G (n.6251-29A>G)
c.6098-29A>G (n.6098-29A>G)
c.5885-29A>G (n.5885-29A>G)
c.6065-29A>G (n.6065-29A>G)
 dbSNP gnomAD v4
12g.80358832T>ACA2533092787OTOGLc.6227-28T>A (n.6227-28T>A)
c.167-28T>A (n.167-28T>A)
c.6092-28T>A (n.6092-28T>A)
c.1527+57T>A
c.6200-28T>A (n.6200-28T>A)
n.483-28T>A
c.6164-28T>A (n.6164-28T>A)
c.251-28T>A (n.251-28T>A)
c.355-28T>A
c.6251-28T>A (n.6251-28T>A)
c.6098-28T>A (n.6098-28T>A)
c.5885-28T>A (n.5885-28T>A)
c.6065-28T>A (n.6065-28T>A)
 gnomAD v4
12g.80358832T>CCA692354042OTOGLc.6227-28T>C (n.6227-28T>C)
c.167-28T>C (n.167-28T>C)
c.6092-28T>C (n.6092-28T>C)
c.1527+57T>C
c.6200-28T>C (n.6200-28T>C)
n.483-28T>C
c.6164-28T>C (n.6164-28T>C)
c.251-28T>C (n.251-28T>C)
c.355-28T>C
c.6251-28T>C (n.6251-28T>C)
c.6098-28T>C (n.6098-28T>C)
c.5885-28T>C (n.5885-28T>C)
c.6065-28T>C (n.6065-28T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.80358832T>GCA2575235848OTOGLc.6227-28T>G (n.6227-28T>G)
c.167-28T>G (n.167-28T>G)
c.6092-28T>G (n.6092-28T>G)
c.1527+57T>G
c.6200-28T>G (n.6200-28T>G)
n.483-28T>G
c.6164-28T>G (n.6164-28T>G)
c.251-28T>G (n.251-28T>G)
c.355-28T>G
c.6251-28T>G (n.6251-28T>G)
c.6098-28T>G (n.6098-28T>G)
c.5885-28T>G (n.5885-28T>G)
c.6065-28T>G (n.6065-28T>G)
 gnomAD v4
12g.80358832T=CA2049208550OTOGLc.6227-28T= (n.6227-28T=)
c.167-28T= (n.167-28T=)
c.6092-28T= (n.6092-28T=)
c.1527+57T=
c.6200-28T= (n.6200-28T=)
n.483-28T=
c.6164-28T= (n.6164-28T=)
c.251-28T= (n.251-28T=)
c.355-28T=
c.6251-28T= (n.6251-28T=)
c.6098-28T= (n.6098-28T=)
c.5885-28T= (n.5885-28T=)
c.6065-28T= (n.6065-28T=)
12g.80358833G>ACA2049208552OTOGLc.6227-27G>A (n.6227-27G>A)
c.167-27G>A (n.167-27G>A)
c.6092-27G>A (n.6092-27G>A)
c.1527+58G>A
c.6200-27G>A (n.6200-27G>A)
n.483-27G>A
c.6164-27G>A (n.6164-27G>A)
c.251-27G>A (n.251-27G>A)
c.355-27G>A
c.6251-27G>A (n.6251-27G>A)
c.6098-27G>A (n.6098-27G>A)
c.5885-27G>A (n.5885-27G>A)
c.6065-27G>A (n.6065-27G>A)
 dbSNP gnomAD v4
12g.80358833G=CA2049208551OTOGLc.6227-27G= (n.6227-27G=)
c.167-27G= (n.167-27G=)
c.6092-27G= (n.6092-27G=)
c.1527+58G=
c.6200-27G= (n.6200-27G=)
n.483-27G=
c.6164-27G= (n.6164-27G=)
c.251-27G= (n.251-27G=)
c.355-27G=
c.6251-27G= (n.6251-27G=)
c.6098-27G= (n.6098-27G=)
c.5885-27G= (n.5885-27G=)
c.6065-27G= (n.6065-27G=)
12g.80358833G>TCA6701948OTOGLc.6227-27G>T (n.6227-27G>T)
c.167-27G>T (n.167-27G>T)
c.6092-27G>T (n.6092-27G>T)
c.1527+58G>T
c.6200-27G>T (n.6200-27G>T)
n.483-27G>T
c.6164-27G>T (n.6164-27G>T)
c.251-27G>T (n.251-27G>T)
c.355-27G>T
c.6251-27G>T (n.6251-27G>T)
c.6098-27G>T (n.6098-27G>T)
c.5885-27G>T (n.5885-27G>T)
c.6065-27G>T (n.6065-27G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358834_80358835delinsTACA2049208553OTOGLc.6227-26_6227-25delinsTA (n.6227-26_6227-25delinsTA)
c.167-26_167-25delinsTA (n.167-26_167-25delinsTA)
c.6092-26_6092-25delinsTA (n.6092-26_6092-25delinsTA)
c.1527+59_1527+60delinsTA
c.6200-26_6200-25delinsTA (n.6200-26_6200-25delinsTA)
n.483-26_483-25delinsTA
c.6164-26_6164-25delinsTA (n.6164-26_6164-25delinsTA)
c.251-26_251-25delinsTA (n.251-26_251-25delinsTA)
c.355-26_355-25delinsTA
c.6251-26_6251-25delinsTA (n.6251-26_6251-25delinsTA)
c.6098-26_6098-25delinsTA (n.6098-26_6098-25delinsTA)
c.5885-26_5885-25delinsTA (n.5885-26_5885-25delinsTA)
c.6065-26_6065-25delinsTA (n.6065-26_6065-25delinsTA)
12g.80358835A>GCA2620017116OTOGLc.6227-25A>G (n.6227-25A>G)
c.167-25A>G (n.167-25A>G)
c.6092-25A>G (n.6092-25A>G)
c.1527+60A>G
c.6200-25A>G (n.6200-25A>G)
n.483-25A>G
c.6164-25A>G (n.6164-25A>G)
c.251-25A>G (n.251-25A>G)
c.355-25A>G
c.6251-25A>G (n.6251-25A>G)
c.6098-25A>G (n.6098-25A>G)
c.5885-25A>G (n.5885-25A>G)
c.6065-25A>G (n.6065-25A>G)
 gnomAD v4
12g.80358837delCA692354052OTOGLc.6227-23del (n.6227-23del)
c.167-23del (n.167-23del)
c.6092-23del (n.6092-23del)
c.1527+62del
c.6200-23del (n.6200-23del)
n.483-23del
c.6164-23del (n.6164-23del)
c.251-23del (n.251-23del)
c.355-23del
c.6251-23del (n.6251-23del)
c.6098-23del (n.6098-23del)
c.5885-23del (n.5885-23del)
c.6065-23del (n.6065-23del)
 dbSNP
12g.80358836A=CA2049208555OTOGLc.6227-24A= (n.6227-24A=)
c.167-24A= (n.167-24A=)
c.6092-24A= (n.6092-24A=)
c.1527+61A=
c.6200-24A= (n.6200-24A=)
n.483-24A=
c.6164-24A= (n.6164-24A=)
c.251-24A= (n.251-24A=)
c.355-24A=
c.6251-24A= (n.6251-24A=)
c.6098-24A= (n.6098-24A=)
c.5885-24A= (n.5885-24A=)
c.6065-24A= (n.6065-24A=)
12g.80358836A>CCA6701949OTOGLc.6227-24A>C (n.6227-24A>C)
c.167-24A>C (n.167-24A>C)
c.6092-24A>C (n.6092-24A>C)
c.1527+61A>C
c.6200-24A>C (n.6200-24A>C)
n.483-24A>C
c.6164-24A>C (n.6164-24A>C)
c.251-24A>C (n.251-24A>C)
c.355-24A>C
c.6251-24A>C (n.6251-24A>C)
c.6098-24A>C (n.6098-24A>C)
c.5885-24A>C (n.5885-24A>C)
c.6065-24A>C (n.6065-24A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358836A>GCA2049208554OTOGLc.6227-24A>G (n.6227-24A>G)
c.167-24A>G (n.167-24A>G)
c.6092-24A>G (n.6092-24A>G)
c.1527+61A>G
c.6200-24A>G (n.6200-24A>G)
n.483-24A>G
c.6164-24A>G (n.6164-24A>G)
c.251-24A>G (n.251-24A>G)
c.355-24A>G
c.6251-24A>G (n.6251-24A>G)
c.6098-24A>G (n.6098-24A>G)
c.5885-24A>G (n.5885-24A>G)
c.6065-24A>G (n.6065-24A>G)
 dbSNP gnomAD v4
12g.80358839A>GCA2620017117OTOGLc.6227-21A>G (n.6227-21A>G)
c.167-21A>G (n.167-21A>G)
c.6092-21A>G (n.6092-21A>G)
c.1527+64A>G
c.6200-21A>G (n.6200-21A>G)
n.483-21A>G
c.6164-21A>G (n.6164-21A>G)
c.251-21A>G (n.251-21A>G)
c.355-21A>G
c.6251-21A>G (n.6251-21A>G)
c.6098-21A>G (n.6098-21A>G)
c.5885-21A>G (n.5885-21A>G)
c.6065-21A>G (n.6065-21A>G)
 gnomAD v4
12g.80358840T>CCA6701950OTOGLc.6227-20T>C (n.6227-20T>C)
c.167-20T>C (n.167-20T>C)
c.6092-20T>C (n.6092-20T>C)
c.1527+65T>C
c.6200-20T>C (n.6200-20T>C)
n.483-20T>C
c.6164-20T>C (n.6164-20T>C)
c.251-20T>C (n.251-20T>C)
c.355-20T>C
c.6251-20T>C (n.6251-20T>C)
c.6098-20T>C (n.6098-20T>C)
c.5885-20T>C (n.5885-20T>C)
c.6065-20T>C (n.6065-20T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358840T=CA2049208556OTOGLc.6227-20T= (n.6227-20T=)
c.167-20T= (n.167-20T=)
c.6092-20T= (n.6092-20T=)
c.1527+65T=
c.6200-20T= (n.6200-20T=)
n.483-20T=
c.6164-20T= (n.6164-20T=)
c.251-20T= (n.251-20T=)
c.355-20T=
c.6251-20T= (n.6251-20T=)
c.6098-20T= (n.6098-20T=)
c.5885-20T= (n.5885-20T=)
c.6065-20T= (n.6065-20T=)
12g.80358841G>ACA2620017118OTOGLc.6227-19G>A (n.6227-19G>A)
c.167-19G>A (n.167-19G>A)
c.6092-19G>A (n.6092-19G>A)
c.1527+66G>A
c.6200-19G>A (n.6200-19G>A)
n.483-19G>A
c.6164-19G>A (n.6164-19G>A)
c.251-19G>A (n.251-19G>A)
c.355-19G>A
c.6251-19G>A (n.6251-19G>A)
c.6098-19G>A (n.6098-19G>A)
c.5885-19G>A (n.5885-19G>A)
c.6065-19G>A (n.6065-19G>A)
 gnomAD v4
12g.80358843delCA2535112806OTOGLc.6227-17del (n.6227-17del)
c.167-17del (n.167-17del)
c.6092-17del (n.6092-17del)
c.1527+68del
c.6200-17del (n.6200-17del)
n.483-17del
c.6164-17del (n.6164-17del)
c.251-17del (n.251-17del)
c.355-17del
c.6251-17del (n.6251-17del)
c.6098-17del (n.6098-17del)
c.5885-17del (n.5885-17del)
c.6065-17del (n.6065-17del)
12g.80358843T>GCA655055956OTOGLc.6227-17T>G (n.6227-17T>G)
c.167-17T>G (n.167-17T>G)
c.6092-17T>G (n.6092-17T>G)
c.1527+68T>G
c.6200-17T>G (n.6200-17T>G)
n.483-17T>G
c.6164-17T>G (n.6164-17T>G)
c.251-17T>G (n.251-17T>G)
c.355-17T>G
c.6251-17T>G (n.6251-17T>G)
c.6098-17T>G (n.6098-17T>G)
c.5885-17T>G (n.5885-17T>G)
c.6065-17T>G (n.6065-17T>G)
 COSMIC
12g.80358844G>CCA2620017120OTOGLc.6227-16G>C (n.6227-16G>C)
c.167-16G>C (n.167-16G>C)
c.6092-16G>C (n.6092-16G>C)
c.1527+69G>C
c.6200-16G>C (n.6200-16G>C)
n.483-16G>C
c.6164-16G>C (n.6164-16G>C)
c.251-16G>C (n.251-16G>C)
c.355-16G>C
c.6251-16G>C (n.6251-16G>C)
c.6098-16G>C (n.6098-16G>C)
c.5885-16G>C (n.5885-16G>C)
c.6065-16G>C (n.6065-16G>C)
 gnomAD v4
12g.80358844G>TCA2620017119OTOGLc.6227-16G>T (n.6227-16G>T)
c.167-16G>T (n.167-16G>T)
c.6092-16G>T (n.6092-16G>T)
c.1527+69G>T
c.6200-16G>T (n.6200-16G>T)
n.483-16G>T
c.6164-16G>T (n.6164-16G>T)
c.251-16G>T (n.251-16G>T)
c.355-16G>T
c.6251-16G>T (n.6251-16G>T)
c.6098-16G>T (n.6098-16G>T)
c.5885-16G>T (n.5885-16G>T)
c.6065-16G>T (n.6065-16G>T)
 gnomAD v4
12g.80358845delCA2529730093OTOGLc.6227-15del (n.6227-15del)
c.167-15del (n.167-15del)
c.6092-15del (n.6092-15del)
c.1527+70del
c.6200-15del (n.6200-15del)
n.483-15del
c.6164-15del (n.6164-15del)
c.251-15del (n.251-15del)
c.355-15del
c.6251-15del (n.6251-15del)
c.6098-15del (n.6098-15del)
c.5885-15del (n.5885-15del)
c.6065-15del (n.6065-15del)
12g.80358845A=CA2049208557OTOGLc.6227-15A= (n.6227-15A=)
c.167-15A= (n.167-15A=)
c.6092-15A= (n.6092-15A=)
c.1527+70A=
c.6200-15A= (n.6200-15A=)
n.483-15A=
c.6164-15A= (n.6164-15A=)
c.251-15A= (n.251-15A=)
c.355-15A=
c.6251-15A= (n.6251-15A=)
c.6098-15A= (n.6098-15A=)
c.5885-15A= (n.5885-15A=)
c.6065-15A= (n.6065-15A=)
12g.80358845A>TCA606202933OTOGLc.6227-15A>T (n.6227-15A>T)
c.167-15A>T (n.167-15A>T)
c.6092-15A>T (n.6092-15A>T)
c.1527+70A>T
c.6200-15A>T (n.6200-15A>T)
n.483-15A>T
c.6164-15A>T (n.6164-15A>T)
c.251-15A>T (n.251-15A>T)
c.355-15A>T
c.6251-15A>T (n.6251-15A>T)
c.6098-15A>T (n.6098-15A>T)
c.5885-15A>T (n.5885-15A>T)
c.6065-15A>T (n.6065-15A>T)
 dbSNP gnomAD v2 gnomAD v4
12g.80358846T>CCA6701951OTOGLc.6227-14T>C (n.6227-14T>C)
c.167-14T>C (n.167-14T>C)
c.6092-14T>C (n.6092-14T>C)
c.1527+71T>C
c.6200-14T>C (n.6200-14T>C)
n.483-14T>C
c.6164-14T>C (n.6164-14T>C)
c.251-14T>C (n.251-14T>C)
c.355-14T>C
c.6251-14T>C (n.6251-14T>C)
c.6098-14T>C (n.6098-14T>C)
c.5885-14T>C (n.5885-14T>C)
c.6065-14T>C (n.6065-14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358846T=CA2049208558OTOGLc.6227-14T= (n.6227-14T=)
c.167-14T= (n.167-14T=)
c.6092-14T= (n.6092-14T=)
c.1527+71T=
c.6200-14T= (n.6200-14T=)
n.483-14T=
c.6164-14T= (n.6164-14T=)
c.251-14T= (n.251-14T=)
c.355-14T=
c.6251-14T= (n.6251-14T=)
c.6098-14T= (n.6098-14T=)
c.5885-14T= (n.5885-14T=)
c.6065-14T= (n.6065-14T=)
12g.80358850delCA2620017121OTOGLc.6227-10del (n.6227-10del)
c.167-10del (n.167-10del)
c.6092-10del (n.6092-10del)
c.1527+75del
c.6200-10del (n.6200-10del)
n.483-10del
c.6164-10del (n.6164-10del)
c.251-10del (n.251-10del)
c.355-10del
c.6251-10del (n.6251-10del)
c.6098-10del (n.6098-10del)
c.5885-10del (n.5885-10del)
c.6065-10del (n.6065-10del)
 gnomAD v4
12g.80358847T>ACA949708888OTOGLc.6227-13T>A (n.6227-13T>A)
c.167-13T>A (n.167-13T>A)
c.6092-13T>A (n.6092-13T>A)
c.1527+72T>A
c.6200-13T>A (n.6200-13T>A)
n.483-13T>A
c.6164-13T>A (n.6164-13T>A)
c.251-13T>A (n.251-13T>A)
c.355-13T>A
c.6251-13T>A (n.6251-13T>A)
c.6098-13T>A (n.6098-13T>A)
c.5885-13T>A (n.5885-13T>A)
c.6065-13T>A (n.6065-13T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.80358847T=CA2049208559OTOGLc.6227-13T= (n.6227-13T=)
c.167-13T= (n.167-13T=)
c.6092-13T= (n.6092-13T=)
c.1527+72T=
c.6200-13T= (n.6200-13T=)
n.483-13T=
c.6164-13T= (n.6164-13T=)
c.251-13T= (n.251-13T=)
c.355-13T=
c.6251-13T= (n.6251-13T=)
c.6098-13T= (n.6098-13T=)
c.5885-13T= (n.5885-13T=)
c.6065-13T= (n.6065-13T=)
12g.80358850T>ACA2049208561OTOGLc.6227-10T>A (n.6227-10T>A)
c.167-10T>A (n.167-10T>A)
c.6092-10T>A (n.6092-10T>A)
c.1527+75T>A
c.6200-10T>A (n.6200-10T>A)
n.483-10T>A
c.6164-10T>A (n.6164-10T>A)
c.251-10T>A (n.251-10T>A)
c.355-10T>A
c.6251-10T>A (n.6251-10T>A)
c.6098-10T>A (n.6098-10T>A)
c.5885-10T>A (n.5885-10T>A)
c.6065-10T>A (n.6065-10T>A)
 dbSNP
12g.80358850T=CA2049208560OTOGLc.6227-10T= (n.6227-10T=)
c.167-10T= (n.167-10T=)
c.6092-10T= (n.6092-10T=)
c.1527+75T=
c.6200-10T= (n.6200-10T=)
n.483-10T=
c.6164-10T= (n.6164-10T=)
c.251-10T= (n.251-10T=)
c.355-10T=
c.6251-10T= (n.6251-10T=)
c.6098-10T= (n.6098-10T=)
c.5885-10T= (n.5885-10T=)
c.6065-10T= (n.6065-10T=)
12g.80358851G>TCA2620017123OTOGLc.6227-9G>T (n.6227-9G>T)
c.167-9G>T (n.167-9G>T)
c.6092-9G>T (n.6092-9G>T)
c.1527+76G>T
c.6200-9G>T (n.6200-9G>T)
n.483-9G>T
c.6164-9G>T (n.6164-9G>T)
c.251-9G>T (n.251-9G>T)
c.355-9G>T
c.6251-9G>T (n.6251-9G>T)
c.6098-9G>T (n.6098-9G>T)
c.5885-9G>T (n.5885-9G>T)
c.6065-9G>T (n.6065-9G>T)
 gnomAD v4
12g.80358851_80358853delCA2620017122OTOGLc.6227-9_6227-7del (n.6227-9_6227-7del)
c.167-9_167-7del (n.167-9_167-7del)
c.6092-9_6092-7del (n.6092-9_6092-7del)
c.1527+76_1527+78del
c.6200-9_6200-7del (n.6200-9_6200-7del)
n.483-9_483-7del
c.6164-9_6164-7del (n.6164-9_6164-7del)
c.251-9_251-7del (n.251-9_251-7del)
c.355-9_355-7del
c.6251-9_6251-7del (n.6251-9_6251-7del)
c.6098-9_6098-7del (n.6098-9_6098-7del)
c.5885-9_5885-7del (n.5885-9_5885-7del)
c.6065-9_6065-7del (n.6065-9_6065-7del)
 gnomAD v4
12g.80358852C>ACA2620017124OTOGLc.6227-8C>A (n.6227-8C>A)
c.167-8C>A (n.167-8C>A)
c.6092-8C>A (n.6092-8C>A)
c.1527+77C>A
c.6200-8C>A (n.6200-8C>A)
n.483-8C>A
c.6164-8C>A (n.6164-8C>A)
c.251-8C>A (n.251-8C>A)
c.355-8C>A
c.6251-8C>A (n.6251-8C>A)
c.6098-8C>A (n.6098-8C>A)
c.5885-8C>A (n.5885-8C>A)
c.6065-8C>A (n.6065-8C>A)
 gnomAD v4
12g.80358852C>TCA2620017125OTOGLc.6227-8C>T (n.6227-8C>T)
c.167-8C>T (n.167-8C>T)
c.6092-8C>T (n.6092-8C>T)
c.1527+77C>T
c.6200-8C>T (n.6200-8C>T)
n.483-8C>T
c.6164-8C>T (n.6164-8C>T)
c.251-8C>T (n.251-8C>T)
c.355-8C>T
c.6251-8C>T (n.6251-8C>T)
c.6098-8C>T (n.6098-8C>T)
c.5885-8C>T (n.5885-8C>T)
c.6065-8C>T (n.6065-8C>T)
 gnomAD v4
12g.80358857delCA2620017126OTOGLc.6227-3del (n.6227-3del)
c.167-3del (n.167-3del)
c.6092-3del (n.6092-3del)
c.1527+82del
c.6200-3del (n.6200-3del)
n.483-3del
c.6164-3del (n.6164-3del)
c.251-3del (n.251-3del)
c.355-3del
c.6251-3del (n.6251-3del)
c.6098-3del (n.6098-3del)
c.5885-3del (n.5885-3del)
c.6065-3del (n.6065-3del)
 gnomAD v4
12g.80358856_80358857delCA2575235849OTOGLc.6227-4_6227-3del (n.6227-4_6227-3del)
c.167-4_167-3del (n.167-4_167-3del)
c.6092-4_6092-3del (n.6092-4_6092-3del)
c.1527+81_1527+82del
c.6200-4_6200-3del (n.6200-4_6200-3del)
n.483-4_483-3del
c.6164-4_6164-3del (n.6164-4_6164-3del)
c.251-4_251-3del (n.251-4_251-3del)
c.355-4_355-3del
c.6251-4_6251-3del (n.6251-4_6251-3del)
c.6098-4_6098-3del (n.6098-4_6098-3del)
c.5885-4_5885-3del (n.5885-4_5885-3del)
c.6065-4_6065-3del (n.6065-4_6065-3del)
12g.80358858A>CCA385888895OTOGLc.6227-2A>C (n.6227-2A>C)
c.167-2A>C (n.167-2A>C)
c.6092-2A>C (n.6092-2A>C)
c.1527+83A>C
c.6200-2A>C (n.6200-2A>C)
n.483-2A>C
c.6164-2A>C (n.6164-2A>C)
c.251-2A>C (n.251-2A>C)
c.355-2A>C
c.6251-2A>C (n.6251-2A>C)
c.6098-2A>C (n.6098-2A>C)
c.5885-2A>C (n.5885-2A>C)
c.6065-2A>C (n.6065-2A>C)
12g.80358858A>GCA385888896OTOGLc.6227-2A>G (n.6227-2A>G)
c.167-2A>G (n.167-2A>G)
c.6092-2A>G (n.6092-2A>G)
c.1527+83A>G
c.6200-2A>G (n.6200-2A>G)
n.483-2A>G
c.6164-2A>G (n.6164-2A>G)
c.251-2A>G (n.251-2A>G)
c.355-2A>G
c.6251-2A>G (n.6251-2A>G)
c.6098-2A>G (n.6098-2A>G)
c.5885-2A>G (n.5885-2A>G)
c.6065-2A>G (n.6065-2A>G)
 gnomAD v4
12g.80358858A>TCA385888897OTOGLc.6227-2A>T (n.6227-2A>T)
c.167-2A>T (n.167-2A>T)
c.6092-2A>T (n.6092-2A>T)
c.1527+83A>T
c.6200-2A>T (n.6200-2A>T)
n.483-2A>T
c.6164-2A>T (n.6164-2A>T)
c.251-2A>T (n.251-2A>T)
c.355-2A>T
c.6251-2A>T (n.6251-2A>T)
c.6098-2A>T (n.6098-2A>T)
c.5885-2A>T (n.5885-2A>T)
c.6065-2A>T (n.6065-2A>T)
12g.80358858_80358861delCA2620017127OTOGLc.6227-2_6228del
c.167-2_168del
c.6092-2_6093del
c.1527+83_1527+86del
c.6200-2_6201del
n.483-2_484del
c.6164-2_6165del
c.251-2_252del
c.355-2_356del
c.6251-2_6252del
c.6098-2_6099del
c.5885-2_5886del
c.6065-2_6066del
 gnomAD v4
12g.80358859_80358861delCA2796693848OTOGLc.6227-1_6228del
c.167-1_168del
c.6092-1_6093del
c.1527+84_1527+86del
c.6200-1_6201del
n.483-1_484del
c.6164-1_6165del
c.251-1_252del
c.355-1_356del
c.6251-1_6252del
c.6098-1_6099del
c.5885-1_5886del
c.6065-1_6066del
12g.80358859G>ACA385888899OTOGLc.6227-1G>A (n.6227-1G>A)
c.167-1G>A (n.167-1G>A)
c.6092-1G>A (n.6092-1G>A)
c.1527+84G>A
c.6200-1G>A (n.6200-1G>A)
n.483-1G>A
c.6164-1G>A (n.6164-1G>A)
c.251-1G>A (n.251-1G>A)
c.355-1G>A
c.6251-1G>A (n.6251-1G>A)
c.6098-1G>A (n.6098-1G>A)
c.5885-1G>A (n.5885-1G>A)
c.6065-1G>A (n.6065-1G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.80358859G>CCA385888900OTOGLc.6227-1G>C (n.6227-1G>C)
c.167-1G>C (n.167-1G>C)
c.6092-1G>C (n.6092-1G>C)
c.1527+84G>C
c.6200-1G>C (n.6200-1G>C)
n.483-1G>C
c.6164-1G>C (n.6164-1G>C)
c.251-1G>C (n.251-1G>C)
c.355-1G>C
c.6251-1G>C (n.6251-1G>C)
c.6098-1G>C (n.6098-1G>C)
c.5885-1G>C (n.5885-1G>C)
c.6065-1G>C (n.6065-1G>C)
12g.80358859G=CA2049208562OTOGLc.6227-1G= (n.6227-1G=)
c.167-1G= (n.167-1G=)
c.6092-1G= (n.6092-1G=)
c.1527+84G=
c.6200-1G= (n.6200-1G=)
n.483-1G=
c.6164-1G= (n.6164-1G=)
c.251-1G= (n.251-1G=)
c.355-1G=
c.6251-1G= (n.6251-1G=)
c.6098-1G= (n.6098-1G=)
c.5885-1G= (n.5885-1G=)
c.6065-1G= (n.6065-1G=)
12g.80358859G>TCA385888898OTOGLc.6227-1G>T (n.6227-1G>T)
c.167-1G>T (n.167-1G>T)
c.6092-1G>T (n.6092-1G>T)
c.1527+84G>T
c.6200-1G>T (n.6200-1G>T)
n.483-1G>T
c.6164-1G>T (n.6164-1G>T)
c.251-1G>T (n.251-1G>T)
c.355-1G>T
c.6251-1G>T (n.6251-1G>T)
c.6098-1G>T (n.6098-1G>T)
c.5885-1G>T (n.5885-1G>T)
c.6065-1G>T (n.6065-1G>T)
 gnomAD v4
12g.80358860A>CCA385888901OTOGLc.6227A>C (p.Glu2076Ala)
c.167A>C (p.Glu56Ala)
c.6092A>C (p.Glu2031Ala)
c.1527+85A>C
c.6200A>C (p.Glu2067Ala)
n.483A>C
c.6164A>C (p.Glu2055Ala)
c.251A>C (p.Glu84Ala)
c.355A>C
c.6251A>C (p.Glu2084Ala)
c.6098A>C (p.Glu2033Ala)
c.5885A>C (p.Glu1962Ala)
c.6065A>C (p.Glu2022Ala)
12g.80358860A>GCA385888902OTOGLc.6227A>G (p.Glu2076Gly)
c.167A>G (p.Glu56Gly)
c.6092A>G (p.Glu2031Gly)
c.1527+85A>G
c.6200A>G (p.Glu2067Gly)
n.483A>G
c.6164A>G (p.Glu2055Gly)
c.251A>G (p.Glu84Gly)
c.355A>G
c.6251A>G (p.Glu2084Gly)
c.6098A>G (p.Glu2033Gly)
c.5885A>G (p.Glu1962Gly)
c.6065A>G (p.Glu2022Gly)
12g.80358860A>TCA385888903OTOGLc.6227A>T (p.Glu2076Val)
c.167A>T (p.Glu56Val)
c.6092A>T (p.Glu2031Val)
c.1527+85A>T
c.6200A>T (p.Glu2067Val)
n.483A>T
c.6164A>T (p.Glu2055Val)
c.251A>T (p.Glu84Val)
c.355A>T
c.6251A>T (p.Glu2084Val)
c.6098A>T (p.Glu2033Val)
c.5885A>T (p.Glu1962Val)
c.6065A>T (p.Glu2022Val)
12g.80358860_80358861insTTTTTTCA2796693849OTOGLc.6227_6228insTTTTTT (p.Glu2076delinsAspPheLeu)
c.167_168insTTTTTT (p.Glu56delinsAspPheLeu)
c.6092_6093insTTTTTT (p.Glu2031delinsAspPheLeu)
c.1527+85_1527+86insTTTTTT
c.6200_6201insTTTTTT (p.Glu2067delinsAspPheLeu)
n.483_484insTTTTTT
c.6164_6165insTTTTTT (p.Glu2055delinsAspPheLeu)
c.251_252insTTTTTT (p.Glu84delinsAspPheLeu)
c.355_356insTTTTTT
c.6251_6252insTTTTTT (p.Glu2084delinsAspPheLeu)
c.6098_6099insTTTTTT (p.Glu2033delinsAspPheLeu)
c.5885_5886insTTTTTT (p.Glu1962delinsAspPheLeu)
c.6065_6066insTTTTTT (p.Glu2022delinsAspPheLeu)
12g.80358861A>CCA385888904OTOGLc.6228A>C (p.Glu2076Asp)
c.168A>C (p.Glu56Asp)
c.6093A>C (p.Glu2031Asp)
c.1527+86A>C
c.6201A>C (p.Glu2067Asp)
n.484A>C
c.6165A>C (p.Glu2055Asp)
c.252A>C (p.Glu84Asp)
c.356A>C
c.6252A>C (p.Glu2084Asp)
c.6099A>C (p.Glu2033Asp)
c.5886A>C (p.Glu1962Asp)
c.6066A>C (p.Glu2022Asp)
12g.80358861A>GCA480823633OTOGLc.6228A>G (p.Glu2076=)
c.168A>G (p.Glu56=)
c.6093A>G (p.Glu2031=)
c.1527+86A>G
c.6201A>G (p.Glu2067=)
n.484A>G
c.6165A>G (p.Glu2055=)
c.252A>G (p.Glu84=)
c.356A>G
c.6252A>G (p.Glu2084=)
c.6099A>G (p.Glu2033=)
c.5886A>G (p.Glu1962=)
c.6066A>G (p.Glu2022=)
12g.80358861A>TCA385888905OTOGLc.6228A>T (p.Glu2076Asp)
c.168A>T (p.Glu56Asp)
c.6093A>T (p.Glu2031Asp)
c.1527+86A>T
c.6201A>T (p.Glu2067Asp)
n.484A>T
c.6165A>T (p.Glu2055Asp)
c.252A>T (p.Glu84Asp)
c.356A>T
c.6252A>T (p.Glu2084Asp)
c.6099A>T (p.Glu2033Asp)
c.5886A>T (p.Glu1962Asp)
c.6066A>T (p.Glu2022Asp)
12g.80358862T>ACA385888906OTOGLc.6229T>A (p.Cys2077Ser)
c.169T>A (p.Cys57Ser)
c.6094T>A (p.Cys2032Ser)
c.1527+87T>A
c.6202T>A (p.Cys2068Ser)
n.485T>A
c.6166T>A (p.Cys2056Ser)
c.253T>A (p.Cys85Ser)
c.357T>A
c.6253T>A (p.Cys2085Ser)
c.6100T>A (p.Cys2034Ser)
c.5887T>A (p.Cys1963Ser)
c.6067T>A (p.Cys2023Ser)
12g.80358862T>CCA240239811OTOGLc.6229T>C (p.Cys2077Arg)
c.169T>C (p.Cys57Arg)
c.6094T>C (p.Cys2032Arg)
c.1527+87T>C
c.6202T>C (p.Cys2068Arg)
n.485T>C
c.6166T>C (p.Cys2056Arg)
c.253T>C (p.Cys85Arg)
c.357T>C
c.6253T>C (p.Cys2085Arg)
c.6100T>C (p.Cys2034Arg)
c.5887T>C (p.Cys1963Arg)
c.6067T>C (p.Cys2023Arg)
 dbSNP
12g.80358862T>GCA6701952OTOGLc.6229T>G (p.Cys2077Gly)
c.169T>G (p.Cys57Gly)
c.6094T>G (p.Cys2032Gly)
c.1527+87T>G
c.6202T>G (p.Cys2068Gly)
n.485T>G
c.6166T>G (p.Cys2056Gly)
c.253T>G (p.Cys85Gly)
c.357T>G
c.6253T>G (p.Cys2085Gly)
c.6100T>G (p.Cys2034Gly)
c.5887T>G (p.Cys1963Gly)
c.6067T>G (p.Cys2023Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358862T=CA2049208563OTOGLc.6229T= (p.Cys2077=)
c.169T= (p.Cys57=)
c.6094T= (p.Cys2032=)
c.1527+87T=
c.6202T= (p.Cys2068=)
n.485T=
c.6166T= (p.Cys2056=)
c.253T= (p.Cys85=)
c.357T=
c.6253T= (p.Cys2085=)
c.6100T= (p.Cys2034=)
c.5887T= (p.Cys1963=)
c.6067T= (p.Cys2023=)
12g.80358863G>ACA240239829OTOGLc.6230G>A (p.Cys2077Tyr)
c.170G>A (p.Cys57Tyr)
c.6095G>A (p.Cys2032Tyr)
c.1527+88G>A
c.6203G>A (p.Cys2068Tyr)
n.486G>A
c.6167G>A (p.Cys2056Tyr)
c.254G>A (p.Cys85Tyr)
c.358G>A
c.6254G>A (p.Cys2085Tyr)
c.6101G>A (p.Cys2034Tyr)
c.5888G>A (p.Cys1963Tyr)
c.6068G>A (p.Cys2023Tyr)
 dbSNP gnomAD v4
12g.80358863G>CCA385888907OTOGLc.6230G>C (p.Cys2077Ser)
c.170G>C (p.Cys57Ser)
c.6095G>C (p.Cys2032Ser)
c.1527+88G>C
c.6203G>C (p.Cys2068Ser)
n.486G>C
c.6167G>C (p.Cys2056Ser)
c.254G>C (p.Cys85Ser)
c.358G>C
c.6254G>C (p.Cys2085Ser)
c.6101G>C (p.Cys2034Ser)
c.5888G>C (p.Cys1963Ser)
c.6068G>C (p.Cys2023Ser)
12g.80358863G=CA2049208564OTOGLc.6230G= (p.Cys2077=)
c.170G= (p.Cys57=)
c.6095G= (p.Cys2032=)
c.1527+88G=
c.6203G= (p.Cys2068=)
n.486G=
c.6167G= (p.Cys2056=)
c.254G= (p.Cys85=)
c.358G=
c.6254G= (p.Cys2085=)
c.6101G= (p.Cys2034=)
c.5888G= (p.Cys1963=)
c.6068G= (p.Cys2023=)
12g.80358863G>TCA385888908OTOGLc.6230G>T (p.Cys2077Phe)
c.170G>T (p.Cys57Phe)
c.6095G>T (p.Cys2032Phe)
c.1527+88G>T
c.6203G>T (p.Cys2068Phe)
n.486G>T
c.6167G>T (p.Cys2056Phe)
c.254G>T (p.Cys85Phe)
c.358G>T
c.6254G>T (p.Cys2085Phe)
c.6101G>T (p.Cys2034Phe)
c.5888G>T (p.Cys1963Phe)
c.6068G>T (p.Cys2023Phe)
12g.80358863_80358864insGCACA2505125104OTOGLc.6230_6231insGCA (p.Cys2077delinsTrpHis)
c.170_171insGCA (p.Cys57delinsTrpHis)
c.6095_6096insGCA (p.Cys2032delinsTrpHis)
c.1527+88_1527+89insGCA
c.6203_6204insGCA (p.Cys2068delinsTrpHis)
n.486_487insGCA
c.6167_6168insGCA (p.Cys2056delinsTrpHis)
c.254_255insGCA (p.Cys85delinsTrpHis)
c.358_359insGCA
c.6254_6255insGCA (p.Cys2085delinsTrpHis)
c.6101_6102insGCA (p.Cys2034delinsTrpHis)
c.5888_5889insGCA (p.Cys1963delinsTrpHis)
c.6068_6069insGCA (p.Cys2023delinsTrpHis)
12g.80358864T>ACA385888909OTOGLc.6231T>A (p.Cys2077Ter)
c.171T>A (p.Cys57Ter)
c.6096T>A (p.Cys2032Ter)
c.1527+89T>A
c.6204T>A (p.Cys2068Ter)
n.487T>A
c.6168T>A (p.Cys2056Ter)
c.255T>A (p.Cys85Ter)
c.359T>A
c.6255T>A (p.Cys2085Ter)
c.6102T>A (p.Cys2034Ter)
c.5889T>A (p.Cys1963Ter)
c.6069T>A (p.Cys2023Ter)
12g.80358864T>CCA480823652OTOGLc.6231T>C (p.Cys2077=)
c.171T>C (p.Cys57=)
c.6096T>C (p.Cys2032=)
c.1527+89T>C
c.6204T>C (p.Cys2068=)
n.487T>C
c.6168T>C (p.Cys2056=)
c.255T>C (p.Cys85=)
c.359T>C
c.6255T>C (p.Cys2085=)
c.6102T>C (p.Cys2034=)
c.5889T>C (p.Cys1963=)
c.6069T>C (p.Cys2023=)
12g.80358864T>GCA385888910OTOGLc.6231T>G (p.Cys2077Trp)
c.171T>G (p.Cys57Trp)
c.6096T>G (p.Cys2032Trp)
c.1527+89T>G
c.6204T>G (p.Cys2068Trp)
n.487T>G
c.6168T>G (p.Cys2056Trp)
c.255T>G (p.Cys85Trp)
c.359T>G
c.6255T>G (p.Cys2085Trp)
c.6102T>G (p.Cys2034Trp)
c.5889T>G (p.Cys1963Trp)
c.6069T>G (p.Cys2023Trp)
12g.80358865A=CA2049208565OTOGLc.6232A= (p.Asn2078=)
c.172A= (p.Asn58=)
c.6097A= (p.Asn2033=)
c.1527+90A=
c.6205A= (p.Asn2069=)
n.488A=
c.6169A= (p.Asn2057=)
c.256A= (p.Asn86=)
c.360A=
c.6256A= (p.Asn2086=)
c.6103A= (p.Asn2035=)
c.5890A= (p.Asn1964=)
c.6070A= (p.Asn2024=)
12g.80358865A>CCA385888911OTOGLc.6232A>C (p.Asn2078His)
c.172A>C (p.Asn58His)
c.6097A>C (p.Asn2033His)
c.1527+90A>C
c.6205A>C (p.Asn2069His)
n.488A>C
c.6169A>C (p.Asn2057His)
c.256A>C (p.Asn86His)
c.360A>C
c.6256A>C (p.Asn2086His)
c.6103A>C (p.Asn2035His)
c.5890A>C (p.Asn1964His)
c.6070A>C (p.Asn2024His)
 dbSNP
12g.80358865A>GCA385888913OTOGLc.6232A>G (p.Asn2078Asp)
c.172A>G (p.Asn58Asp)
c.6097A>G (p.Asn2033Asp)
c.1527+90A>G
c.6205A>G (p.Asn2069Asp)
n.488A>G
c.6169A>G (p.Asn2057Asp)
c.256A>G (p.Asn86Asp)
c.360A>G
c.6256A>G (p.Asn2086Asp)
c.6103A>G (p.Asn2035Asp)
c.5890A>G (p.Asn1964Asp)
c.6070A>G (p.Asn2024Asp)
 gnomAD v4
12g.80358865A>TCA385888912OTOGLc.6232A>T (p.Asn2078Tyr)
c.172A>T (p.Asn58Tyr)
c.6097A>T (p.Asn2033Tyr)
c.1527+90A>T
c.6205A>T (p.Asn2069Tyr)
n.488A>T
c.6169A>T (p.Asn2057Tyr)
c.256A>T (p.Asn86Tyr)
c.360A>T
c.6256A>T (p.Asn2086Tyr)
c.6103A>T (p.Asn2035Tyr)
c.5890A>T (p.Asn1964Tyr)
c.6070A>T (p.Asn2024Tyr)
12g.80358866A>CCA385888914OTOGLc.6233A>C (p.Asn2078Thr)
c.173A>C (p.Asn58Thr)
c.6098A>C (p.Asn2033Thr)
c.1527+91A>C
c.6206A>C (p.Asn2069Thr)
n.489A>C
c.6170A>C (p.Asn2057Thr)
c.257A>C (p.Asn86Thr)
c.361A>C
c.6257A>C (p.Asn2086Thr)
c.6104A>C (p.Asn2035Thr)
c.5891A>C (p.Asn1964Thr)
c.6071A>C (p.Asn2024Thr)
12g.80358866A>GCA385888915OTOGLc.6233A>G (p.Asn2078Ser)
c.173A>G (p.Asn58Ser)
c.6098A>G (p.Asn2033Ser)
c.1527+91A>G
c.6206A>G (p.Asn2069Ser)
n.489A>G
c.6170A>G (p.Asn2057Ser)
c.257A>G (p.Asn86Ser)
c.361A>G
c.6257A>G (p.Asn2086Ser)
c.6104A>G (p.Asn2035Ser)
c.5891A>G (p.Asn1964Ser)
c.6071A>G (p.Asn2024Ser)
 gnomAD v4
12g.80358866A>TCA385888916OTOGLc.6233A>T (p.Asn2078Ile)
c.173A>T (p.Asn58Ile)
c.6098A>T (p.Asn2033Ile)
c.1527+91A>T
c.6206A>T (p.Asn2069Ile)
n.489A>T
c.6170A>T (p.Asn2057Ile)
c.257A>T (p.Asn86Ile)
c.361A>T
c.6257A>T (p.Asn2086Ile)
c.6104A>T (p.Asn2035Ile)
c.5891A>T (p.Asn1964Ile)
c.6071A>T (p.Asn2024Ile)
12g.80358867C>ACA385888917OTOGLc.6234C>A (p.Asn2078Lys)
c.174C>A (p.Asn58Lys)
c.6099C>A (p.Asn2033Lys)
c.1527+92C>A
c.6207C>A (p.Asn2069Lys)
n.490C>A
c.6171C>A (p.Asn2057Lys)
c.258C>A (p.Asn86Lys)
c.362C>A
c.6258C>A (p.Asn2086Lys)
c.6105C>A (p.Asn2035Lys)
c.5892C>A (p.Asn1964Lys)
c.6072C>A (p.Asn2024Lys)
 gnomAD v4
12g.80358867C>GCA385888918OTOGLc.6234C>G (p.Asn2078Lys)
c.174C>G (p.Asn58Lys)
c.6099C>G (p.Asn2033Lys)
c.1527+92C>G
c.6207C>G (p.Asn2069Lys)
n.490C>G
c.6171C>G (p.Asn2057Lys)
c.258C>G (p.Asn86Lys)
c.362C>G
c.6258C>G (p.Asn2086Lys)
c.6105C>G (p.Asn2035Lys)
c.5892C>G (p.Asn1964Lys)
c.6072C>G (p.Asn2024Lys)
12g.80358867C>TCA480823670OTOGLc.6234C>T (p.Asn2078=)
c.174C>T (p.Asn58=)
c.6099C>T (p.Asn2033=)
c.1527+92C>T
c.6207C>T (p.Asn2069=)
n.490C>T
c.6171C>T (p.Asn2057=)
c.258C>T (p.Asn86=)
c.362C>T
c.6258C>T (p.Asn2086=)
c.6105C>T (p.Asn2035=)
c.5892C>T (p.Asn1964=)
c.6072C>T (p.Asn2024=)
12g.80358867_80358869delinsCTGCA2049208566OTOGLc.6234_6236delinsCTG (p.Asn2078=)
c.174_176delinsCTG (p.Asn58=)
c.6099_6101delinsCTG (p.Asn2033=)
c.1527+92_1527+94delinsCTG
c.6207_6209delinsCTG (p.Asn2069=)
n.490_492delinsCTG
c.6171_6173delinsCTG (p.Asn2057=)
c.258_260delinsCTG (p.Asn86=)
c.362_364delinsCTG
c.6258_6260delinsCTG (p.Asn2086=)
c.6105_6107delinsCTG (p.Asn2035=)
c.5892_5894delinsCTG (p.Asn1964=)
c.6072_6074delinsCTG (p.Asn2024=)
12g.80358868T>ACA385888919OTOGLc.6235T>A (p.Cys2079Ser)
c.175T>A (p.Cys59Ser)
c.6100T>A (p.Cys2034Ser)
c.1527+93T>A
c.6208T>A (p.Cys2070Ser)
n.491T>A
c.6172T>A (p.Cys2058Ser)
c.259T>A (p.Cys87Ser)
c.363T>A
c.6259T>A (p.Cys2087Ser)
c.6106T>A (p.Cys2036Ser)
c.5893T>A (p.Cys1965Ser)
c.6073T>A (p.Cys2025Ser)
 COSMIC COSMIC
12g.80358868T>CCA385888920OTOGLc.6235T>C (p.Cys2079Arg)
c.175T>C (p.Cys59Arg)
c.6100T>C (p.Cys2034Arg)
c.1527+93T>C
c.6208T>C (p.Cys2070Arg)
n.491T>C
c.6172T>C (p.Cys2058Arg)
c.259T>C (p.Cys87Arg)
c.363T>C
c.6259T>C (p.Cys2087Arg)
c.6106T>C (p.Cys2036Arg)
c.5893T>C (p.Cys1965Arg)
c.6073T>C (p.Cys2025Arg)
 ClinVar gnomAD v4
12g.80358868T>GCA385888921OTOGLc.6235T>G (p.Cys2079Gly)
c.175T>G (p.Cys59Gly)
c.6100T>G (p.Cys2034Gly)
c.1527+93T>G
c.6208T>G (p.Cys2070Gly)
n.491T>G
c.6172T>G (p.Cys2058Gly)
c.259T>G (p.Cys87Gly)
c.363T>G
c.6259T>G (p.Cys2087Gly)
c.6106T>G (p.Cys2036Gly)
c.5893T>G (p.Cys1965Gly)
c.6073T>G (p.Cys2025Gly)
12g.80358870_80358871delCA2049208567OTOGLc.6237_6238del (p.Cys2079Ter)
c.177_178del (p.Cys59Ter)
c.6102_6103del (p.Cys2034Ter)
c.1527+95_1527+96del
c.6210_6211del (p.Cys2070Ter)
n.493_494del
c.6174_6175del (p.Cys2058Ter)
c.261_262del (p.Cys87Ter)
c.365_366del
c.6261_6262del (p.Cys2087Ter)
c.6108_6109del (p.Cys2036Ter)
c.5895_5896del (p.Cys1965Ter)
c.6075_6076del (p.Cys2025Ter)
 dbSNP gnomAD v4
12g.80358868_80358872delCA2502068130OTOGLc.6235_6239del (p.Cys2079LysfsTer8)
c.175_179del (p.Cys59LysfsTer8)
c.6100_6104del (p.Cys2034LysfsTer8)
c.1527+93_1527+97del
c.6208_6212del (p.Cys2070LysfsTer8)
n.491_495del
c.6172_6176del (p.Cys2058LysfsTer8)
c.259_263del (p.Cys87LysfsTer8)
c.363_367del
c.6259_6263del (p.Cys2087LysfsTer8)
c.6106_6110del (p.Cys2036LysfsTer8)
c.5893_5897del (p.Cys1965LysfsTer8)
c.6073_6077del (p.Cys2025LysfsTer8)
12g.80358869G>ACA385888922OTOGLc.6236G>A (p.Cys2079Tyr)
c.176G>A (p.Cys59Tyr)
c.6101G>A (p.Cys2034Tyr)
c.1527+94G>A
c.6209G>A (p.Cys2070Tyr)
n.492G>A
c.6173G>A (p.Cys2058Tyr)
c.260G>A (p.Cys87Tyr)
c.364G>A
c.6260G>A (p.Cys2087Tyr)
c.6107G>A (p.Cys2036Tyr)
c.5894G>A (p.Cys1965Tyr)
c.6074G>A (p.Cys2025Tyr)
 gnomAD v4
12g.80358869G>CCA385888923OTOGLc.6236G>C (p.Cys2079Ser)
c.176G>C (p.Cys59Ser)
c.6101G>C (p.Cys2034Ser)
c.1527+94G>C
c.6209G>C (p.Cys2070Ser)
n.492G>C
c.6173G>C (p.Cys2058Ser)
c.260G>C (p.Cys87Ser)
c.364G>C
c.6260G>C (p.Cys2087Ser)
c.6107G>C (p.Cys2036Ser)
c.5894G>C (p.Cys1965Ser)
c.6074G>C (p.Cys2025Ser)
12g.80358869G>TCA385888924OTOGLc.6236G>T (p.Cys2079Phe)
c.176G>T (p.Cys59Phe)
c.6101G>T (p.Cys2034Phe)
c.1527+94G>T
c.6209G>T (p.Cys2070Phe)
n.492G>T
c.6173G>T (p.Cys2058Phe)
c.260G>T (p.Cys87Phe)
c.364G>T
c.6260G>T (p.Cys2087Phe)
c.6107G>T (p.Cys2036Phe)
c.5894G>T (p.Cys1965Phe)
c.6074G>T (p.Cys2025Phe)
 gnomAD v4
12g.80358870T>ACA385888925OTOGLc.6237T>A (p.Cys2079Ter)
c.177T>A (p.Cys59Ter)
c.6102T>A (p.Cys2034Ter)
c.1527+95T>A
c.6210T>A (p.Cys2070Ter)
n.493T>A
c.6174T>A (p.Cys2058Ter)
c.261T>A (p.Cys87Ter)
c.365T>A
c.6261T>A (p.Cys2087Ter)
c.6108T>A (p.Cys2036Ter)
c.5895T>A (p.Cys1965Ter)
c.6075T>A (p.Cys2025Ter)
 dbSNP gnomAD v4
12g.80358870T>CCA480823687OTOGLc.6237T>C (p.Cys2079=)
c.177T>C (p.Cys59=)
c.6102T>C (p.Cys2034=)
c.1527+95T>C
c.6210T>C (p.Cys2070=)
n.493T>C
c.6174T>C (p.Cys2058=)
c.261T>C (p.Cys87=)
c.365T>C
c.6261T>C (p.Cys2087=)
c.6108T>C (p.Cys2036=)
c.5895T>C (p.Cys1965=)
c.6075T>C (p.Cys2025=)
 gnomAD v4
12g.80358870T>GCA385888926OTOGLc.6237T>G (p.Cys2079Trp)
c.177T>G (p.Cys59Trp)
c.6102T>G (p.Cys2034Trp)
c.1527+95T>G
c.6210T>G (p.Cys2070Trp)
n.493T>G
c.6174T>G (p.Cys2058Trp)
c.261T>G (p.Cys87Trp)
c.365T>G
c.6261T>G (p.Cys2087Trp)
c.6108T>G (p.Cys2036Trp)
c.5895T>G (p.Cys1965Trp)
c.6075T>G (p.Cys2025Trp)
12g.80358870T=CA2049208568OTOGLc.6237T= (p.Cys2079=)
c.177T= (p.Cys59=)
c.6102T= (p.Cys2034=)
c.1527+95T=
c.6210T= (p.Cys2070=)
n.493T=
c.6174T= (p.Cys2058=)
c.261T= (p.Cys87=)
c.365T=
c.6261T= (p.Cys2087=)
c.6108T= (p.Cys2036=)
c.5895T= (p.Cys1965=)
c.6075T= (p.Cys2025=)
12g.80358871G>ACA6701953OTOGLc.6238G>A (p.Glu2080Lys)
c.178G>A (p.Glu60Lys)
c.6103G>A (p.Glu2035Lys)
c.1527+96G>A
c.6211G>A (p.Glu2071Lys)
n.494G>A
c.6175G>A (p.Glu2059Lys)
c.262G>A (p.Glu88Lys)
c.366G>A
c.6262G>A (p.Glu2088Lys)
c.6109G>A (p.Glu2037Lys)
c.5896G>A (p.Glu1966Lys)
c.6076G>A (p.Glu2026Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358871G>CCA6701954OTOGLc.6238G>C (p.Glu2080Gln)
c.178G>C (p.Glu60Gln)
c.6103G>C (p.Glu2035Gln)
c.1527+96G>C
c.6211G>C (p.Glu2071Gln)
n.494G>C
c.6175G>C (p.Glu2059Gln)
c.262G>C (p.Glu88Gln)
c.366G>C
c.6262G>C (p.Glu2088Gln)
c.6109G>C (p.Glu2037Gln)
c.5896G>C (p.Glu1966Gln)
c.6076G>C (p.Glu2026Gln)
 dbSNP ExAC gnomAD v4
12g.80358871G=CA2049208569OTOGLc.6238G= (p.Glu2080=)
c.178G= (p.Glu60=)
c.6103G= (p.Glu2035=)
c.1527+96G=
c.6211G= (p.Glu2071=)
n.494G=
c.6175G= (p.Glu2059=)
c.262G= (p.Glu88=)
c.366G=
c.6262G= (p.Glu2088=)
c.6109G= (p.Glu2037=)
c.5896G= (p.Glu1966=)
c.6076G= (p.Glu2026=)
12g.80358871G>TCA385888927OTOGLc.6238G>T (p.Glu2080Ter)
c.178G>T (p.Glu60Ter)
c.6103G>T (p.Glu2035Ter)
c.1527+96G>T
c.6211G>T (p.Glu2071Ter)
n.494G>T
c.6175G>T (p.Glu2059Ter)
c.262G>T (p.Glu88Ter)
c.366G>T
c.6262G>T (p.Glu2088Ter)
c.6109G>T (p.Glu2037Ter)
c.5896G>T (p.Glu1966Ter)
c.6076G>T (p.Glu2026Ter)
 gnomAD v4
12g.80358871_80358872delinsGACA2049208570OTOGLc.6238_6239delinsGA (p.Glu2080=)
c.178_179delinsGA (p.Glu60=)
c.6103_6104delinsGA (p.Glu2035=)
c.1527+96_1527+97delinsGA
c.6211_6212delinsGA (p.Glu2071=)
n.494_495delinsGA
c.6175_6176delinsGA (p.Glu2059=)
c.262_263delinsGA (p.Glu88=)
c.366_367delinsGA
c.6262_6263delinsGA (p.Glu2088=)
c.6109_6110delinsGA (p.Glu2037=)
c.5896_5897delinsGA (p.Glu1966=)
c.6076_6077delinsGA (p.Glu2026=)
12g.80358872A>CCA385888928OTOGLc.6239A>C (p.Glu2080Ala)
c.179A>C (p.Glu60Ala)
c.6104A>C (p.Glu2035Ala)
c.1527+97A>C
c.6212A>C (p.Glu2071Ala)
n.495A>C
c.6176A>C (p.Glu2059Ala)
c.263A>C (p.Glu88Ala)
c.367A>C
c.6263A>C (p.Glu2088Ala)
c.6110A>C (p.Glu2037Ala)
c.5897A>C (p.Glu1966Ala)
c.6077A>C (p.Glu2026Ala)
12g.80358872A>GCA385888929OTOGLc.6239A>G (p.Glu2080Gly)
c.179A>G (p.Glu60Gly)
c.6104A>G (p.Glu2035Gly)
c.1527+97A>G
c.6212A>G (p.Glu2071Gly)
n.495A>G
c.6176A>G (p.Glu2059Gly)
c.263A>G (p.Glu88Gly)
c.367A>G
c.6263A>G (p.Glu2088Gly)
c.6110A>G (p.Glu2037Gly)
c.5897A>G (p.Glu1966Gly)
c.6077A>G (p.Glu2026Gly)
 gnomAD v4
12g.80358872A>TCA385888930OTOGLc.6239A>T (p.Glu2080Val)
c.179A>T (p.Glu60Val)
c.6104A>T (p.Glu2035Val)
c.1527+97A>T
c.6212A>T (p.Glu2071Val)
n.495A>T
c.6176A>T (p.Glu2059Val)
c.263A>T (p.Glu88Val)
c.367A>T
c.6263A>T (p.Glu2088Val)
c.6110A>T (p.Glu2037Val)
c.5897A>T (p.Glu1966Val)
c.6077A>T (p.Glu2026Val)
 gnomAD v4
12g.80358875delCA949708889OTOGLc.6242del (p.Asn2081ThrfsTer15)
c.182del (p.Asn61ThrfsTer9)
c.6107del (p.Asn2036ThrfsTer15)
c.1527+100del
c.6215del (p.Asn2072ThrfsTer15)
n.498del
c.6179del (p.Asn2060ThrfsTer15)
c.266del (p.Asn89ThrfsTer15)
c.370del
c.6266del (p.Asn2089ThrfsTer15)
c.6113del (p.Asn2038ThrfsTer15)
c.5900del (p.Asn1967ThrfsTer15)
c.6080del (p.Asn2027ThrfsTer15)
 dbSNP gnomAD v3 gnomAD v4
12g.80358873A>CCA385888931OTOGLc.6240A>C (p.Glu2080Asp)
c.180A>C (p.Glu60Asp)
c.6105A>C (p.Glu2035Asp)
c.1527+98A>C
c.6213A>C (p.Glu2071Asp)
n.496A>C
c.6177A>C (p.Glu2059Asp)
c.264A>C (p.Glu88Asp)
c.368A>C
c.6264A>C (p.Glu2088Asp)
c.6111A>C (p.Glu2037Asp)
c.5898A>C (p.Glu1966Asp)
c.6078A>C (p.Glu2026Asp)
12g.80358873A>GCA480823702OTOGLc.6240A>G (p.Glu2080=)
c.180A>G (p.Glu60=)
c.6105A>G (p.Glu2035=)
c.1527+98A>G
c.6213A>G (p.Glu2071=)
n.496A>G
c.6177A>G (p.Glu2059=)
c.264A>G (p.Glu88=)
c.368A>G
c.6264A>G (p.Glu2088=)
c.6111A>G (p.Glu2037=)
c.5898A>G (p.Glu1966=)
c.6078A>G (p.Glu2026=)
12g.80358873A>TCA385888932OTOGLc.6240A>T (p.Glu2080Asp)
c.180A>T (p.Glu60Asp)
c.6105A>T (p.Glu2035Asp)
c.1527+98A>T
c.6213A>T (p.Glu2071Asp)
n.496A>T
c.6177A>T (p.Glu2059Asp)
c.264A>T (p.Glu88Asp)
c.368A>T
c.6264A>T (p.Glu2088Asp)
c.6111A>T (p.Glu2037Asp)
c.5898A>T (p.Glu1966Asp)
c.6078A>T (p.Glu2026Asp)
12g.80358874A>CCA385888933OTOGLc.6241A>C (p.Asn2081His)
c.181A>C (p.Asn61His)
c.6106A>C (p.Asn2036His)
c.1527+99A>C
c.6214A>C (p.Asn2072His)
n.497A>C
c.6178A>C (p.Asn2060His)
c.265A>C (p.Asn89His)
c.369A>C
c.6265A>C (p.Asn2089His)
c.6112A>C (p.Asn2038His)
c.5899A>C (p.Asn1967His)
c.6079A>C (p.Asn2027His)
12g.80358874A>GCA385888934OTOGLc.6241A>G (p.Asn2081Asp)
c.181A>G (p.Asn61Asp)
c.6106A>G (p.Asn2036Asp)
c.1527+99A>G
c.6214A>G (p.Asn2072Asp)
n.497A>G
c.6178A>G (p.Asn2060Asp)
c.265A>G (p.Asn89Asp)
c.369A>G
c.6265A>G (p.Asn2089Asp)
c.6112A>G (p.Asn2038Asp)
c.5899A>G (p.Asn1967Asp)
c.6079A>G (p.Asn2027Asp)
12g.80358874A>TCA385888935OTOGLc.6241A>T (p.Asn2081Tyr)
c.181A>T (p.Asn61Tyr)
c.6106A>T (p.Asn2036Tyr)
c.1527+99A>T
c.6214A>T (p.Asn2072Tyr)
n.497A>T
c.6178A>T (p.Asn2060Tyr)
c.265A>T (p.Asn89Tyr)
c.369A>T
c.6265A>T (p.Asn2089Tyr)
c.6112A>T (p.Asn2038Tyr)
c.5899A>T (p.Asn1967Tyr)
c.6079A>T (p.Asn2027Tyr)
12g.80358874_80358875insGGTTTTCCA2502068131OTOGLc.6241_6242insGGTTTTC (p.Asn2081ArgfsTer10)
c.181_182insGGTTTTC (p.Asn61ArgfsTer10)
c.6106_6107insGGTTTTC (p.Asn2036ArgfsTer10)
c.1527+99_1527+100insGGTTTTC
c.6214_6215insGGTTTTC (p.Asn2072ArgfsTer10)
n.497_498insGGTTTTC
c.6178_6179insGGTTTTC (p.Asn2060ArgfsTer10)
c.265_266insGGTTTTC (p.Asn89ArgfsTer10)
c.369_370insGGTTTTC
c.6265_6266insGGTTTTC (p.Asn2089ArgfsTer10)
c.6112_6113insGGTTTTC (p.Asn2038ArgfsTer10)
c.5899_5900insGGTTTTC (p.Asn1967ArgfsTer10)
c.6079_6080insGGTTTTC (p.Asn2027ArgfsTer10)
12g.80358875A>CCA385888936OTOGLc.6242A>C (p.Asn2081Thr)
c.182A>C (p.Asn61Thr)
c.6107A>C (p.Asn2036Thr)
c.1527+100A>C
c.6215A>C (p.Asn2072Thr)
n.498A>C
c.6179A>C (p.Asn2060Thr)
c.266A>C (p.Asn89Thr)
c.370A>C
c.6266A>C (p.Asn2089Thr)
c.6113A>C (p.Asn2038Thr)
c.5900A>C (p.Asn1967Thr)
c.6080A>C (p.Asn2027Thr)
12g.80358875A>GCA385888937OTOGLc.6242A>G (p.Asn2081Ser)
c.182A>G (p.Asn61Ser)
c.6107A>G (p.Asn2036Ser)
c.1527+100A>G
c.6215A>G (p.Asn2072Ser)
n.498A>G
c.6179A>G (p.Asn2060Ser)
c.266A>G (p.Asn89Ser)
c.370A>G
c.6266A>G (p.Asn2089Ser)
c.6113A>G (p.Asn2038Ser)
c.5900A>G (p.Asn1967Ser)
c.6080A>G (p.Asn2027Ser)
 gnomAD v4
12g.80358875A>TCA385888938OTOGLc.6242A>T (p.Asn2081Ile)
c.182A>T (p.Asn61Ile)
c.6107A>T (p.Asn2036Ile)
c.1527+100A>T
c.6215A>T (p.Asn2072Ile)
n.498A>T
c.6179A>T (p.Asn2060Ile)
c.266A>T (p.Asn89Ile)
c.370A>T
c.6266A>T (p.Asn2089Ile)
c.6113A>T (p.Asn2038Ile)
c.5900A>T (p.Asn1967Ile)
c.6080A>T (p.Asn2027Ile)
 gnomAD v4
12g.80358876C>ACA385888939OTOGLc.6243C>A (p.Asn2081Lys)
c.183C>A (p.Asn61Lys)
c.6108C>A (p.Asn2036Lys)
c.1527+101C>A
c.6216C>A (p.Asn2072Lys)
n.499C>A
c.6180C>A (p.Asn2060Lys)
c.267C>A (p.Asn89Lys)
c.371C>A
c.6267C>A (p.Asn2089Lys)
c.6114C>A (p.Asn2038Lys)
c.5901C>A (p.Asn1967Lys)
c.6081C>A (p.Asn2027Lys)
 gnomAD v4
12g.80358876C>GCA385888940OTOGLc.6243C>G (p.Asn2081Lys)
c.183C>G (p.Asn61Lys)
c.6108C>G (p.Asn2036Lys)
c.1527+101C>G
c.6216C>G (p.Asn2072Lys)
n.499C>G
c.6180C>G (p.Asn2060Lys)
c.267C>G (p.Asn89Lys)
c.371C>G
c.6267C>G (p.Asn2089Lys)
c.6114C>G (p.Asn2038Lys)
c.5901C>G (p.Asn1967Lys)
c.6081C>G (p.Asn2027Lys)
12g.80358876C>TCA480823719OTOGLc.6243C>T (p.Asn2081=)
c.183C>T (p.Asn61=)
c.6108C>T (p.Asn2036=)
c.1527+101C>T
c.6216C>T (p.Asn2072=)
n.499C>T
c.6180C>T (p.Asn2060=)
c.267C>T (p.Asn89=)
c.371C>T
c.6267C>T (p.Asn2089=)
c.6114C>T (p.Asn2038=)
c.5901C>T (p.Asn1967=)
c.6081C>T (p.Asn2027=)
 gnomAD v4
12g.80358877C>ACA385888942OTOGLc.6244C>A (p.Leu2082Ile)
c.184C>A (p.Leu62Ile)
c.6109C>A (p.Leu2037Ile)
c.1527+102C>A
c.6217C>A (p.Leu2073Ile)
n.500C>A
c.6181C>A (p.Leu2061Ile)
c.268C>A (p.Leu90Ile)
c.372C>A
c.6268C>A (p.Leu2090Ile)
c.6115C>A (p.Leu2039Ile)
c.5902C>A (p.Leu1968Ile)
c.6082C>A (p.Leu2028Ile)
 gnomAD v4
12g.80358877C>GCA385888943OTOGLc.6244C>G (p.Leu2082Val)
c.184C>G (p.Leu62Val)
c.6109C>G (p.Leu2037Val)
c.1527+102C>G
c.6217C>G (p.Leu2073Val)
n.500C>G
c.6181C>G (p.Leu2061Val)
c.268C>G (p.Leu90Val)
c.372C>G
c.6268C>G (p.Leu2090Val)
c.6115C>G (p.Leu2039Val)
c.5902C>G (p.Leu1968Val)
c.6082C>G (p.Leu2028Val)
12g.80358877C>TCA385888941OTOGLc.6244C>T (p.Leu2082Phe)
c.184C>T (p.Leu62Phe)
c.6109C>T (p.Leu2037Phe)
c.1527+102C>T
c.6217C>T (p.Leu2073Phe)
n.500C>T
c.6181C>T (p.Leu2061Phe)
c.268C>T (p.Leu90Phe)
c.372C>T
c.6268C>T (p.Leu2090Phe)
c.6115C>T (p.Leu2039Phe)
c.5902C>T (p.Leu1968Phe)
c.6082C>T (p.Leu2028Phe)
12g.80358877_80358879delCA2551661409OTOGLc.6244_6246del (p.Leu2082del)
c.184_186del (p.Leu62del)
c.6109_6111del (p.Leu2037del)
c.1527+102_1527+104del
c.6217_6219del (p.Leu2073del)
n.500_502del
c.6181_6183del (p.Leu2061del)
c.268_270del (p.Leu90del)
c.372_374del
c.6268_6270del (p.Leu2090del)
c.6115_6117del (p.Leu2039del)
c.5902_5904del (p.Leu1968del)
c.6082_6084del (p.Leu2028del)
12g.80358878T>ACA385888944OTOGLc.6245T>A (p.Leu2082His)
c.185T>A (p.Leu62His)
c.6110T>A (p.Leu2037His)
c.1527+103T>A
c.6218T>A (p.Leu2073His)
n.501T>A
c.6182T>A (p.Leu2061His)
c.269T>A (p.Leu90His)
c.373T>A
c.6269T>A (p.Leu2090His)
c.6116T>A (p.Leu2039His)
c.5903T>A (p.Leu1968His)
c.6083T>A (p.Leu2028His)
 gnomAD v4
12g.80358878T>CCA385888945OTOGLc.6245T>C (p.Leu2082Pro)
c.185T>C (p.Leu62Pro)
c.6110T>C (p.Leu2037Pro)
c.1527+103T>C
c.6218T>C (p.Leu2073Pro)
n.501T>C
c.6182T>C (p.Leu2061Pro)
c.269T>C (p.Leu90Pro)
c.373T>C
c.6269T>C (p.Leu2090Pro)
c.6116T>C (p.Leu2039Pro)
c.5903T>C (p.Leu1968Pro)
c.6083T>C (p.Leu2028Pro)
 gnomAD v4
12g.80358878T>GCA385888946OTOGLc.6245T>G (p.Leu2082Arg)
c.185T>G (p.Leu62Arg)
c.6110T>G (p.Leu2037Arg)
c.1527+103T>G
c.6218T>G (p.Leu2073Arg)
n.501T>G
c.6182T>G (p.Leu2061Arg)
c.269T>G (p.Leu90Arg)
c.373T>G
c.6269T>G (p.Leu2090Arg)
c.6116T>G (p.Leu2039Arg)
c.5903T>G (p.Leu1968Arg)
c.6083T>G (p.Leu2028Arg)
12g.80358882_80358884delCA2620017128OTOGLc.6249_6251del (p.Ile2083del)
c.189_191del (p.Ile63del)
c.6114_6116del (p.Ile2038del)
c.1527+107_1527+109del
c.6222_6224del (p.Ile2074del)
n.505_507del
c.6186_6188del (p.Ile2062del)
c.273_275del (p.Ile91del)
c.377_379del
c.6273_6275del (p.Ile2091del)
c.6120_6122del (p.Ile2040del)
c.5907_5909del (p.Ile1969del)
c.6087_6089del (p.Ile2029del)
 gnomAD v4
12g.80358879T>ACA480823731OTOGLc.6246T>A (p.Leu2082=)
c.186T>A (p.Leu62=)
c.6111T>A (p.Leu2037=)
c.1527+104T>A
c.6219T>A (p.Leu2073=)
n.502T>A
c.6183T>A (p.Leu2061=)
c.270T>A (p.Leu90=)
c.374T>A
c.6270T>A (p.Leu2090=)
c.6117T>A (p.Leu2039=)
c.5904T>A (p.Leu1968=)
c.6084T>A (p.Leu2028=)
12g.80358879T>CCA480823733OTOGLc.6246T>C (p.Leu2082=)
c.186T>C (p.Leu62=)
c.6111T>C (p.Leu2037=)
c.1527+104T>C
c.6219T>C (p.Leu2073=)
n.502T>C
c.6183T>C (p.Leu2061=)
c.270T>C (p.Leu90=)
c.374T>C
c.6270T>C (p.Leu2090=)
c.6117T>C (p.Leu2039=)
c.5904T>C (p.Leu1968=)
c.6084T>C (p.Leu2028=)
 gnomAD v4
12g.80358879T>GCA480823736OTOGLc.6246T>G (p.Leu2082=)
c.186T>G (p.Leu62=)
c.6111T>G (p.Leu2037=)
c.1527+104T>G
c.6219T>G (p.Leu2073=)
n.502T>G
c.6183T>G (p.Leu2061=)
c.270T>G (p.Leu90=)
c.374T>G
c.6270T>G (p.Leu2090=)
c.6117T>G (p.Leu2039=)
c.5904T>G (p.Leu1968=)
c.6084T>G (p.Leu2028=)
12g.80358880delCA2620017129OTOGLc.6247del (p.Ile2083LeufsTer13)
c.187del (p.Ile63LeufsTer7)
c.6112del (p.Ile2038LeufsTer13)
c.1527+105del
c.6220del (p.Ile2074LeufsTer13)
n.503del
c.6184del (p.Ile2062LeufsTer13)
c.271del (p.Ile91LeufsTer13)
c.375del
c.6271del (p.Ile2091LeufsTer13)
c.6118del (p.Ile2040LeufsTer13)
c.5905del (p.Ile1969LeufsTer13)
c.6085del (p.Ile2029LeufsTer13)
 gnomAD v4
12g.80358880A=CA2049208571OTOGLc.6247A= (p.Ile2083=)
c.187A= (p.Ile63=)
c.6112A= (p.Ile2038=)
c.1527+105A=
c.6220A= (p.Ile2074=)
n.503A=
c.6184A= (p.Ile2062=)
c.271A= (p.Ile91=)
c.375A=
c.6271A= (p.Ile2091=)
c.6118A= (p.Ile2040=)
c.5905A= (p.Ile1969=)
c.6085A= (p.Ile2029=)
12g.80358880A>CCA385888947OTOGLc.6247A>C (p.Ile2083Leu)
c.187A>C (p.Ile63Leu)
c.6112A>C (p.Ile2038Leu)
c.1527+105A>C
c.6220A>C (p.Ile2074Leu)
n.503A>C
c.6184A>C (p.Ile2062Leu)
c.271A>C (p.Ile91Leu)
c.375A>C
c.6271A>C (p.Ile2091Leu)
c.6118A>C (p.Ile2040Leu)
c.5905A>C (p.Ile1969Leu)
c.6085A>C (p.Ile2029Leu)
 gnomAD v4
12g.80358880A>GCA6701955OTOGLc.6247A>G (p.Ile2083Val)
c.187A>G (p.Ile63Val)
c.6112A>G (p.Ile2038Val)
c.1527+105A>G
c.6220A>G (p.Ile2074Val)
n.503A>G
c.6184A>G (p.Ile2062Val)
c.271A>G (p.Ile91Val)
c.375A>G
c.6271A>G (p.Ile2091Val)
c.6118A>G (p.Ile2040Val)
c.5905A>G (p.Ile1969Val)
c.6085A>G (p.Ile2029Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.[80358880A>G;80358881T>C]CA645372918OTOGLc.[6247A>G;6248T>C] (p.Ile2083Ala)
c.[187A>G;188T>C] (p.[Ile63Val;Ile63Thr])
c.[6112A>G;6113T>C] (p.Ile2038Ala)
c.[1527+105A>G;1527+106T>C]
c.[6220A>G;6221T>C] (p.[Ile2074Val;Ile2074Thr])
n.[503A>G;504T>C]
c.[6184A>G;6185T>C] (p.[Ile2062Val;Ile2062Thr])
c.[271A>G;272T>C] (p.[Ile91Val;Ile91Thr])
c.[375A>G;376T>C]
c.[6271A>G;6272T>C] (p.Ile2091Ala)
c.[6118A>G;6119T>C] (p.Ile2040Ala)
c.[5905A>G;5906T>C] (p.[Ile1969Val;Ile1969Thr])
c.[6271A>G;6272T>C] (p.[Ile2091Val;Ile2091Thr])
c.[6118A>G;6119T>C] (p.[Ile2040Val;Ile2040Thr])
c.[6085A>G;6086T>C] (p.Ile2029Ala)
c.[6247A>G;6248T>C] (p.[Ile2083Val;Ile2083Thr])
12g.80358880A>TCA385888948OTOGLc.6247A>T (p.Ile2083Phe)
c.187A>T (p.Ile63Phe)
c.6112A>T (p.Ile2038Phe)
c.1527+105A>T
c.6220A>T (p.Ile2074Phe)
n.503A>T
c.6184A>T (p.Ile2062Phe)
c.271A>T (p.Ile91Phe)
c.375A>T
c.6271A>T (p.Ile2091Phe)
c.6118A>T (p.Ile2040Phe)
c.5905A>T (p.Ile1969Phe)
c.6085A>T (p.Ile2029Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.80358880_80358881insGCA2534604276OTOGLc.6247_6248insG (p.Ile2083SerfsTer6)
c.187_188insG (p.Ile63SerfsTer6)
c.6112_6113insG (p.Ile2038SerfsTer6)
c.1527+105_1527+106insG
c.6220_6221insG (p.Ile2074SerfsTer6)
n.503_504insG
c.6184_6185insG (p.Ile2062SerfsTer6)
c.271_272insG (p.Ile91SerfsTer6)
c.375_376insG
c.6271_6272insG (p.Ile2091SerfsTer6)
c.6118_6119insG (p.Ile2040SerfsTer6)
c.5905_5906insG (p.Ile1969SerfsTer6)
c.6085_6086insG (p.Ile2029SerfsTer6)
12g.80358881T>ACA385888949OTOGLc.6248T>A (p.Ile2083Asn)
c.188T>A (p.Ile63Asn)
c.6113T>A (p.Ile2038Asn)
c.1527+106T>A
c.6221T>A (p.Ile2074Asn)
n.504T>A
c.6185T>A (p.Ile2062Asn)
c.272T>A (p.Ile91Asn)
c.376T>A
c.6272T>A (p.Ile2091Asn)
c.6119T>A (p.Ile2040Asn)
c.5906T>A (p.Ile1969Asn)
c.6086T>A (p.Ile2029Asn)
12g.80358881T>CCA6701956OTOGLc.6248T>C (p.Ile2083Thr)
c.188T>C (p.Ile63Thr)
c.6113T>C (p.Ile2038Thr)
c.1527+106T>C
c.6221T>C (p.Ile2074Thr)
n.504T>C
c.6185T>C (p.Ile2062Thr)
c.272T>C (p.Ile91Thr)
c.376T>C
c.6272T>C (p.Ile2091Thr)
c.6119T>C (p.Ile2040Thr)
c.5906T>C (p.Ile1969Thr)
c.6086T>C (p.Ile2029Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358881T>GCA385888950OTOGLc.6248T>G (p.Ile2083Ser)
c.188T>G (p.Ile63Ser)
c.6113T>G (p.Ile2038Ser)
c.1527+106T>G
c.6221T>G (p.Ile2074Ser)
n.504T>G
c.6185T>G (p.Ile2062Ser)
c.272T>G (p.Ile91Ser)
c.376T>G
c.6272T>G (p.Ile2091Ser)
c.6119T>G (p.Ile2040Ser)
c.5906T>G (p.Ile1969Ser)
c.6086T>G (p.Ile2029Ser)
 gnomAD v4
12g.80358881T=CA2049208572OTOGLc.6248T= (p.Ile2083=)
c.188T= (p.Ile63=)
c.6113T= (p.Ile2038=)
c.1527+106T=
c.6221T= (p.Ile2074=)
n.504T=
c.6185T= (p.Ile2062=)
c.272T= (p.Ile91=)
c.376T=
c.6272T= (p.Ile2091=)
c.6119T= (p.Ile2040=)
c.5906T= (p.Ile1969=)
c.6086T= (p.Ile2029=)
12g.80358882T>ACA480823748OTOGLc.6249T>A (p.Ile2083=)
c.189T>A (p.Ile63=)
c.6114T>A (p.Ile2038=)
c.1527+107T>A
c.6222T>A (p.Ile2074=)
n.505T>A
c.6186T>A (p.Ile2062=)
c.273T>A (p.Ile91=)
c.377T>A
c.6273T>A (p.Ile2091=)
c.6120T>A (p.Ile2040=)
c.5907T>A (p.Ile1969=)
c.6087T>A (p.Ile2029=)
12g.80358882T>CCA6701957OTOGLc.6249T>C (p.Ile2083=)
c.189T>C (p.Ile63=)
c.6114T>C (p.Ile2038=)
c.1527+107T>C
c.6222T>C (p.Ile2074=)
n.505T>C
c.6186T>C (p.Ile2062=)
c.273T>C (p.Ile91=)
c.377T>C
c.6273T>C (p.Ile2091=)
c.6120T>C (p.Ile2040=)
c.5907T>C (p.Ile1969=)
c.6087T>C (p.Ile2029=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.80358882T>GCA385888951OTOGLc.6249T>G (p.Ile2083Met)
c.189T>G (p.Ile63Met)
c.6114T>G (p.Ile2038Met)
c.1527+107T>G
c.6222T>G (p.Ile2074Met)
n.505T>G
c.6186T>G (p.Ile2062Met)
c.273T>G (p.Ile91Met)
c.377T>G
c.6273T>G (p.Ile2091Met)
c.6120T>G (p.Ile2040Met)
c.5907T>G (p.Ile1969Met)
c.6087T>G (p.Ile2029Met)
12g.80358882T=CA2049208573OTOGLc.6249T= (p.Ile2083=)
c.189T= (p.Ile63=)
c.6114T= (p.Ile2038=)
c.1527+107T=
c.6222T= (p.Ile2074=)
n.505T=
c.6186T= (p.Ile2062=)
c.273T= (p.Ile91=)
c.377T=
c.6273T= (p.Ile2091=)
c.6120T= (p.Ile2040=)
c.5907T= (p.Ile1969=)
c.6087T= (p.Ile2029=)
12g.80358883A>CCA385888954OTOGLc.6250A>C (p.Met2084Leu)
c.190A>C (p.Met64Leu)
c.6115A>C (p.Met2039Leu)
c.1527+108A>C
c.6223A>C (p.Met2075Leu)
n.506A>C
c.6187A>C (p.Met2063Leu)
c.274A>C (p.Met92Leu)
c.378A>C
c.6274A>C (p.Met2092Leu)
c.6121A>C (p.Met2041Leu)
c.5908A>C (p.Met1970Leu)
c.6088A>C (p.Met2030Leu)
12g.80358883A>GCA385888953OTOGLc.6250A>G (p.Met2084Val)
c.190A>G (p.Met64Val)
c.6115A>G (p.Met2039Val)
c.1527+108A>G
c.6223A>G (p.Met2075Val)
n.506A>G
c.6187A>G (p.Met2063Val)
c.274A>G (p.Met92Val)
c.378A>G
c.6274A>G (p.Met2092Val)
c.6121A>G (p.Met2041Val)
c.5908A>G (p.Met1970Val)
c.6088A>G (p.Met2030Val)
12g.80358883A>TCA385888952OTOGLc.6250A>T (p.Met2084Leu)
c.190A>T (p.Met64Leu)
c.6115A>T (p.Met2039Leu)
c.1527+108A>T
c.6223A>T (p.Met2075Leu)
n.506A>T
c.6187A>T (p.Met2063Leu)
c.274A>T (p.Met92Leu)
c.378A>T
c.6274A>T (p.Met2092Leu)
c.6121A>T (p.Met2041Leu)
c.5908A>T (p.Met1970Leu)
c.6088A>T (p.Met2030Leu)
12g.80358884T>ACA385888955OTOGLc.6251T>A (p.Met2084Lys)
c.191T>A (p.Met64Lys)
c.6116T>A (p.Met2039Lys)
c.1527+109T>A
c.6224T>A (p.Met2075Lys)
n.507T>A
c.6188T>A (p.Met2063Lys)
c.275T>A (p.Met92Lys)
c.379T>A
c.6275T>A (p.Met2092Lys)
c.6122T>A (p.Met2041Lys)
c.5909T>A (p.Met1970Lys)
c.6089T>A (p.Met2030Lys)
 gnomAD v4
12g.80358884T>CCA385888956OTOGLc.6251T>C (p.Met2084Thr)
c.191T>C (p.Met64Thr)
c.6116T>C (p.Met2039Thr)
c.1527+109T>C
c.6224T>C (p.Met2075Thr)
n.507T>C
c.6188T>C (p.Met2063Thr)
c.275T>C (p.Met92Thr)
c.379T>C
c.6275T>C (p.Met2092Thr)
c.6122T>C (p.Met2041Thr)
c.5909T>C (p.Met1970Thr)
c.6089T>C (p.Met2030Thr)
 gnomAD v4
12g.80358884T>GCA385888957OTOGLc.6251T>G (p.Met2084Arg)
c.191T>G (p.Met64Arg)
c.6116T>G (p.Met2039Arg)
c.1527+109T>G
c.6224T>G (p.Met2075Arg)
n.507T>G
c.6188T>G (p.Met2063Arg)
c.275T>G (p.Met92Arg)
c.379T>G
c.6275T>G (p.Met2092Arg)
c.6122T>G (p.Met2041Arg)
c.5909T>G (p.Met1970Arg)
c.6089T>G (p.Met2030Arg)
12g.80358884_80358886delCA2510404853OTOGLc.6251_6253del (p.Met2084_Pro2085delinsThr)
c.191_193del (p.Met64_Pro65delinsThr)
c.6116_6118del (p.Met2039_Pro2040delinsThr)
c.1527+109_1527+111del
c.6224_6226del (p.Met2075_Pro2076delinsThr)
n.507_509del
c.6188_6190del (p.Met2063_Pro2064delinsThr)
c.275_277del (p.Met92_Pro93delinsThr)
c.379_381del
c.6275_6277del (p.Met2092_Pro2093delinsThr)
c.6122_6124del (p.Met2041_Pro2042delinsThr)
c.5909_5911del (p.Met1970_Pro1971delinsThr)
c.6089_6091del (p.Met2030_Pro2031delinsThr)
12g.80358885G>ACA6701958OTOGLc.6252G>A (p.Met2084Ile)
c.192G>A (p.Met64Ile)
c.6117G>A (p.Met2039Ile)
c.1527+110G>A
c.6225G>A (p.Met2075Ile)
n.508G>A
c.6189G>A (p.Met2063Ile)
c.276G>A (p.Met92Ile)
c.380G>A
c.6276G>A (p.Met2092Ile)
c.6123G>A (p.Met2041Ile)
c.5910G>A (p.Met1970Ile)
c.6090G>A (p.Met2030Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358885G>CCA385888958OTOGLc.6252G>C (p.Met2084Ile)
c.192G>C (p.Met64Ile)
c.6117G>C (p.Met2039Ile)
c.1527+110G>C
c.6225G>C (p.Met2075Ile)
n.508G>C
c.6189G>C (p.Met2063Ile)
c.276G>C (p.Met92Ile)
c.380G>C
c.6276G>C (p.Met2092Ile)
c.6123G>C (p.Met2041Ile)
c.5910G>C (p.Met1970Ile)
c.6090G>C (p.Met2030Ile)
 gnomAD v4
12g.80358885G=CA2049208574OTOGLc.6252G= (p.Met2084=)
c.192G= (p.Met64=)
c.6117G= (p.Met2039=)
c.1527+110G=
c.6225G= (p.Met2075=)
n.508G=
c.6189G= (p.Met2063=)
c.276G= (p.Met92=)
c.380G=
c.6276G= (p.Met2092=)
c.6123G= (p.Met2041=)
c.5910G= (p.Met1970=)
c.6090G= (p.Met2030=)
12g.80358885G>TCA385888959OTOGLc.6252G>T (p.Met2084Ile)
c.192G>T (p.Met64Ile)
c.6117G>T (p.Met2039Ile)
c.1527+110G>T
c.6225G>T (p.Met2075Ile)
n.508G>T
c.6189G>T (p.Met2063Ile)
c.276G>T (p.Met92Ile)
c.380G>T
c.6276G>T (p.Met2092Ile)
c.6123G>T (p.Met2041Ile)
c.5910G>T (p.Met1970Ile)
c.6090G>T (p.Met2030Ile)
 gnomAD v4
12g.80358886C>ACA385888960OTOGLc.6253C>A (p.Pro2085Thr)
c.193C>A (p.Pro65Thr)
c.6118C>A (p.Pro2040Thr)
c.1527+111C>A
c.6226C>A (p.Pro2076Thr)
n.509C>A
c.6190C>A (p.Pro2064Thr)
c.277C>A (p.Pro93Thr)
c.381C>A
c.6277C>A (p.Pro2093Thr)
c.6124C>A (p.Pro2042Thr)
c.5911C>A (p.Pro1971Thr)
c.6091C>A (p.Pro2031Thr)
 gnomAD v4
12g.80358886C=CA2049208575OTOGLc.6253C= (p.Pro2085=)
c.193C= (p.Pro65=)
c.6118C= (p.Pro2040=)
c.1527+111C=
c.6226C= (p.Pro2076=)
n.509C=
c.6190C= (p.Pro2064=)
c.277C= (p.Pro93=)
c.381C=
c.6277C= (p.Pro2093=)
c.6124C= (p.Pro2042=)
c.5911C= (p.Pro1971=)
c.6091C= (p.Pro2031=)
12g.80358886C>GCA385888961OTOGLc.6253C>G (p.Pro2085Ala)
c.193C>G (p.Pro65Ala)
c.6118C>G (p.Pro2040Ala)
c.1527+111C>G
c.6226C>G (p.Pro2076Ala)
n.509C>G
c.6190C>G (p.Pro2064Ala)
c.277C>G (p.Pro93Ala)
c.381C>G
c.6277C>G (p.Pro2093Ala)
c.6124C>G (p.Pro2042Ala)
c.5911C>G (p.Pro1971Ala)
c.6091C>G (p.Pro2031Ala)
12g.80358886C>TCA6701959OTOGLc.6253C>T (p.Pro2085Ser)
c.193C>T (p.Pro65Ser)
c.6118C>T (p.Pro2040Ser)
c.1527+111C>T
c.6226C>T (p.Pro2076Ser)
n.509C>T
c.6190C>T (p.Pro2064Ser)
c.277C>T (p.Pro93Ser)
c.381C>T
c.6277C>T (p.Pro2093Ser)
c.6124C>T (p.Pro2042Ser)
c.5911C>T (p.Pro1971Ser)
c.6091C>T (p.Pro2031Ser)
 dbSNP ExAC gnomAD v4
12g.80358887C>ACA385888962OTOGLc.6254C>A (p.Pro2085Gln)
c.194C>A (p.Pro65Gln)
c.6119C>A (p.Pro2040Gln)
c.1527+112C>A
c.6227C>A (p.Pro2076Gln)
n.510C>A
c.6191C>A (p.Pro2064Gln)
c.278C>A (p.Pro93Gln)
c.382C>A
c.6278C>A (p.Pro2093Gln)
c.6125C>A (p.Pro2042Gln)
c.5912C>A (p.Pro1971Gln)
c.6092C>A (p.Pro2031Gln)
 dbSNP gnomAD v2 gnomAD v4
12g.80358887C=CA2049208576OTOGLc.6254C= (p.Pro2085=)
c.194C= (p.Pro65=)
c.6119C= (p.Pro2040=)
c.1527+112C=
c.6227C= (p.Pro2076=)
n.510C=
c.6191C= (p.Pro2064=)
c.278C= (p.Pro93=)
c.382C=
c.6278C= (p.Pro2093=)
c.6125C= (p.Pro2042=)
c.5912C= (p.Pro1971=)
c.6092C= (p.Pro2031=)
12g.80358887C>GCA385888963OTOGLc.6254C>G (p.Pro2085Arg)
c.194C>G (p.Pro65Arg)
c.6119C>G (p.Pro2040Arg)
c.1527+112C>G
c.6227C>G (p.Pro2076Arg)
n.510C>G
c.6191C>G (p.Pro2064Arg)
c.278C>G (p.Pro93Arg)
c.382C>G
c.6278C>G (p.Pro2093Arg)
c.6125C>G (p.Pro2042Arg)
c.5912C>G (p.Pro1971Arg)
c.6092C>G (p.Pro2031Arg)
12g.80358887C>TCA6701960OTOGLc.6254C>T (p.Pro2085Leu)
c.194C>T (p.Pro65Leu)
c.6119C>T (p.Pro2040Leu)
c.1527+112C>T
c.6227C>T (p.Pro2076Leu)
n.510C>T
c.6191C>T (p.Pro2064Leu)
c.278C>T (p.Pro93Leu)
c.382C>T
c.6278C>T (p.Pro2093Leu)
c.6125C>T (p.Pro2042Leu)
c.5912C>T (p.Pro1971Leu)
c.6092C>T (p.Pro2031Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358888A=CA2049208577OTOGLc.6255A= (p.Pro2085=)
c.195A= (p.Pro65=)
c.6120A= (p.Pro2040=)
c.1527+113A=
c.6228A= (p.Pro2076=)
n.511A=
c.6192A= (p.Pro2064=)
c.279A= (p.Pro93=)
c.383A=
c.6279A= (p.Pro2093=)
c.6126A= (p.Pro2042=)
c.5913A= (p.Pro1971=)
c.6093A= (p.Pro2031=)
12g.80358888A>CCA480823782OTOGLc.6255A>C (p.Pro2085=)
c.195A>C (p.Pro65=)
c.6120A>C (p.Pro2040=)
c.1527+113A>C
c.6228A>C (p.Pro2076=)
n.511A>C
c.6192A>C (p.Pro2064=)
c.279A>C (p.Pro93=)
c.383A>C
c.6279A>C (p.Pro2093=)
c.6126A>C (p.Pro2042=)
c.5913A>C (p.Pro1971=)
c.6093A>C (p.Pro2031=)
12g.80358888A>GCA240239884OTOGLc.6255A>G (p.Pro2085=)
c.195A>G (p.Pro65=)
c.6120A>G (p.Pro2040=)
c.1527+113A>G
c.6228A>G (p.Pro2076=)
n.511A>G
c.6192A>G (p.Pro2064=)
c.279A>G (p.Pro93=)
c.383A>G
c.6279A>G (p.Pro2093=)
c.6126A>G (p.Pro2042=)
c.5913A>G (p.Pro1971=)
c.6093A>G (p.Pro2031=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358888A>TCA480823780OTOGLc.6255A>T (p.Pro2085=)
c.195A>T (p.Pro65=)
c.6120A>T (p.Pro2040=)
c.1527+113A>T
c.6228A>T (p.Pro2076=)
n.511A>T
c.6192A>T (p.Pro2064=)
c.279A>T (p.Pro93=)
c.383A>T
c.6279A>T (p.Pro2093=)
c.6126A>T (p.Pro2042=)
c.5913A>T (p.Pro1971=)
c.6093A>T (p.Pro2031=)
12g.80358889A>CCA385888965OTOGLc.6256A>C (p.Thr2086Pro)
c.196A>C (p.Thr66Pro)
c.6121A>C (p.Thr2041Pro)
c.1527+114A>C
c.6229A>C (p.Thr2077Pro)
n.512A>C
c.6193A>C (p.Thr2065Pro)
c.280A>C (p.Thr94Pro)
c.384A>C
c.6280A>C (p.Thr2094Pro)
c.6127A>C (p.Thr2043Pro)
c.5914A>C (p.Thr1972Pro)
c.6094A>C (p.Thr2032Pro)
 gnomAD v4
12g.80358889A>GCA385888966OTOGLc.6256A>G (p.Thr2086Ala)
c.196A>G (p.Thr66Ala)
c.6121A>G (p.Thr2041Ala)
c.1527+114A>G
c.6229A>G (p.Thr2077Ala)
n.512A>G
c.6193A>G (p.Thr2065Ala)
c.280A>G (p.Thr94Ala)
c.384A>G
c.6280A>G (p.Thr2094Ala)
c.6127A>G (p.Thr2043Ala)
c.5914A>G (p.Thr1972Ala)
c.6094A>G (p.Thr2032Ala)
 gnomAD v4
12g.80358889A>TCA385888964OTOGLc.6256A>T (p.Thr2086Ser)
c.196A>T (p.Thr66Ser)
c.6121A>T (p.Thr2041Ser)
c.1527+114A>T
c.6229A>T (p.Thr2077Ser)
n.512A>T
c.6193A>T (p.Thr2065Ser)
c.280A>T (p.Thr94Ser)
c.384A>T
c.6280A>T (p.Thr2094Ser)
c.6127A>T (p.Thr2043Ser)
c.5914A>T (p.Thr1972Ser)
c.6094A>T (p.Thr2032Ser)
12g.80358889_80358890delCA2530929450OTOGLc.6256_6257del (p.Thr2086LeufsTer2)
c.196_197del (p.Thr66LeufsTer2)
c.6121_6122del (p.Thr2041LeufsTer2)
c.1527+114_1527+115del
c.6229_6230del (p.Thr2077LeufsTer2)
n.512_513del
c.6193_6194del (p.Thr2065LeufsTer2)
c.280_281del (p.Thr94LeufsTer2)
c.384_385del
c.6280_6281del (p.Thr2094LeufsTer2)
c.6127_6128del (p.Thr2043LeufsTer2)
c.5914_5915del (p.Thr1972LeufsTer2)
c.6094_6095del (p.Thr2032LeufsTer2)
12g.80358889_80358890delinsACCA2049208578OTOGLc.6256_6257delinsAC (p.Thr2086=)
c.196_197delinsAC (p.Thr66=)
c.6121_6122delinsAC (p.Thr2041=)
c.1527+114_1527+115delinsAC
c.6229_6230delinsAC (p.Thr2077=)
n.512_513delinsAC
c.6193_6194delinsAC (p.Thr2065=)
c.280_281delinsAC (p.Thr94=)
c.384_385delinsAC
c.6280_6281delinsAC (p.Thr2094=)
c.6127_6128delinsAC (p.Thr2043=)
c.5914_5915delinsAC (p.Thr1972=)
c.6094_6095delinsAC (p.Thr2032=)
12g.80358890delCA606202944OTOGLc.6257del (p.Thr2086IlefsTer10)
c.197del (p.Thr66IlefsTer4)
c.6122del (p.Thr2041IlefsTer10)
c.1527+115del
c.6230del (p.Thr2077IlefsTer10)
n.513del
c.6194del (p.Thr2065IlefsTer10)
c.281del (p.Thr94IlefsTer10)
c.385del
c.6281del (p.Thr2094IlefsTer10)
c.6128del (p.Thr2043IlefsTer10)
c.5915del (p.Thr1972IlefsTer10)
c.6095del (p.Thr2032IlefsTer10)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358890C>ACA385888968OTOGLc.6257C>A (p.Thr2086Asn)
c.197C>A (p.Thr66Asn)
c.6122C>A (p.Thr2041Asn)
c.1527+115C>A
c.6230C>A (p.Thr2077Asn)
n.513C>A
c.6194C>A (p.Thr2065Asn)
c.281C>A (p.Thr94Asn)
c.385C>A
c.6281C>A (p.Thr2094Asn)
c.6128C>A (p.Thr2043Asn)
c.5915C>A (p.Thr1972Asn)
c.6095C>A (p.Thr2032Asn)
 dbSNP gnomAD v4
12g.80358890C=CA2049208579OTOGLc.6257C= (p.Thr2086=)
c.197C= (p.Thr66=)
c.6122C= (p.Thr2041=)
c.1527+115C=
c.6230C= (p.Thr2077=)
n.513C=
c.6194C= (p.Thr2065=)
c.281C= (p.Thr94=)
c.385C=
c.6281C= (p.Thr2094=)
c.6128C= (p.Thr2043=)
c.5915C= (p.Thr1972=)
c.6095C= (p.Thr2032=)
12g.80358890C>GCA385888967OTOGLc.6257C>G (p.Thr2086Ser)
c.197C>G (p.Thr66Ser)
c.6122C>G (p.Thr2041Ser)
c.1527+115C>G
c.6230C>G (p.Thr2077Ser)
n.513C>G
c.6194C>G (p.Thr2065Ser)
c.281C>G (p.Thr94Ser)
c.385C>G
c.6281C>G (p.Thr2094Ser)
c.6128C>G (p.Thr2043Ser)
c.5915C>G (p.Thr1972Ser)
c.6095C>G (p.Thr2032Ser)
12g.80358890C>TCA385888969OTOGLc.6257C>T (p.Thr2086Ile)
c.197C>T (p.Thr66Ile)
c.6122C>T (p.Thr2041Ile)
c.1527+115C>T
c.6230C>T (p.Thr2077Ile)
n.513C>T
c.6194C>T (p.Thr2065Ile)
c.281C>T (p.Thr94Ile)
c.385C>T
c.6281C>T (p.Thr2094Ile)
c.6128C>T (p.Thr2043Ile)
c.5915C>T (p.Thr1972Ile)
c.6095C>T (p.Thr2032Ile)
 gnomAD v4
12g.80358891T>ACA480823791OTOGLc.6258T>A (p.Thr2086=)
c.198T>A (p.Thr66=)
c.6123T>A (p.Thr2041=)
c.1527+116T>A
c.6231T>A (p.Thr2077=)
n.514T>A
c.6195T>A (p.Thr2065=)
c.282T>A (p.Thr94=)
c.386T>A
c.6282T>A (p.Thr2094=)
c.6129T>A (p.Thr2043=)
c.5916T>A (p.Thr1972=)
c.6096T>A (p.Thr2032=)
12g.80358891T>CCA240239886OTOGLc.6258T>C (p.Thr2086=)
c.198T>C (p.Thr66=)
c.6123T>C (p.Thr2041=)
c.1527+116T>C
c.6231T>C (p.Thr2077=)
n.514T>C
c.6195T>C (p.Thr2065=)
c.282T>C (p.Thr94=)
c.386T>C
c.6282T>C (p.Thr2094=)
c.6129T>C (p.Thr2043=)
c.5916T>C (p.Thr1972=)
c.6096T>C (p.Thr2032=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.80358891T>GCA480823796OTOGLc.6258T>G (p.Thr2086=)
c.198T>G (p.Thr66=)
c.6123T>G (p.Thr2041=)
c.1527+116T>G
c.6231T>G (p.Thr2077=)
n.514T>G
c.6195T>G (p.Thr2065=)
c.282T>G (p.Thr94=)
c.386T>G
c.6282T>G (p.Thr2094=)
c.6129T>G (p.Thr2043=)
c.5916T>G (p.Thr1972=)
c.6096T>G (p.Thr2032=)
12g.80358891T=CA2049208580OTOGLc.6258T= (p.Thr2086=)
c.198T= (p.Thr66=)
c.6123T= (p.Thr2041=)
c.1527+116T=
c.6231T= (p.Thr2077=)
n.514T=
c.6195T= (p.Thr2065=)
c.282T= (p.Thr94=)
c.386T=
c.6282T= (p.Thr2094=)
c.6129T= (p.Thr2043=)
c.5916T= (p.Thr1972=)
c.6096T= (p.Thr2032=)
12g.80358892T>ACA385888970OTOGLc.6259T>A (p.Cys2087Ser)
c.199T>A (p.Cys67Ser)
c.6124T>A (p.Cys2042Ser)
c.1527+117T>A
c.6232T>A (p.Cys2078Ser)
n.515T>A
c.6196T>A (p.Cys2066Ser)
c.283T>A (p.Cys95Ser)
c.387T>A
c.6283T>A (p.Cys2095Ser)
c.6130T>A (p.Cys2044Ser)
c.5917T>A (p.Cys1973Ser)
c.6097T>A (p.Cys2033Ser)
12g.80358892T>CCA385888971OTOGLc.6259T>C (p.Cys2087Arg)
c.199T>C (p.Cys67Arg)
c.6124T>C (p.Cys2042Arg)
c.1527+117T>C
c.6232T>C (p.Cys2078Arg)
n.515T>C
c.6196T>C (p.Cys2066Arg)
c.283T>C (p.Cys95Arg)
c.387T>C
c.6283T>C (p.Cys2095Arg)
c.6130T>C (p.Cys2044Arg)
c.5917T>C (p.Cys1973Arg)
c.6097T>C (p.Cys2033Arg)
 gnomAD v4
12g.80358892T>GCA385888972OTOGLc.6259T>G (p.Cys2087Gly)
c.199T>G (p.Cys67Gly)
c.6124T>G (p.Cys2042Gly)
c.1527+117T>G
c.6232T>G (p.Cys2078Gly)
n.515T>G
c.6196T>G (p.Cys2066Gly)
c.283T>G (p.Cys95Gly)
c.387T>G
c.6283T>G (p.Cys2095Gly)
c.6130T>G (p.Cys2044Gly)
c.5917T>G (p.Cys1973Gly)
c.6097T>G (p.Cys2033Gly)
 gnomAD v4
12g.80358893G>ACA385888973OTOGLc.6260G>A (p.Cys2087Tyr)
c.200G>A (p.Cys67Tyr)
c.6125G>A (p.Cys2042Tyr)
c.1527+118G>A
c.6233G>A (p.Cys2078Tyr)
n.516G>A
c.6197G>A (p.Cys2066Tyr)
c.284G>A (p.Cys95Tyr)
c.388G>A
c.6284G>A (p.Cys2095Tyr)
c.6131G>A (p.Cys2044Tyr)
c.5918G>A (p.Cys1973Tyr)
c.6098G>A (p.Cys2033Tyr)
 dbSNP gnomAD v2 gnomAD v4
12g.80358893G>CCA385888974OTOGLc.6260G>C (p.Cys2087Ser)
c.200G>C (p.Cys67Ser)
c.6125G>C (p.Cys2042Ser)
c.1527+118G>C
c.6233G>C (p.Cys2078Ser)
n.516G>C
c.6197G>C (p.Cys2066Ser)
c.284G>C (p.Cys95Ser)
c.388G>C
c.6284G>C (p.Cys2095Ser)
c.6131G>C (p.Cys2044Ser)
c.5918G>C (p.Cys1973Ser)
c.6098G>C (p.Cys2033Ser)
12g.80358893G=CA2049208581OTOGLc.6260G= (p.Cys2087=)
c.200G= (p.Cys67=)
c.6125G= (p.Cys2042=)
c.1527+118G=
c.6233G= (p.Cys2078=)
n.516G=
c.6197G= (p.Cys2066=)
c.284G= (p.Cys95=)
c.388G=
c.6284G= (p.Cys2095=)
c.6131G= (p.Cys2044=)
c.5918G= (p.Cys1973=)
c.6098G= (p.Cys2033=)
12g.80358893G>TCA385888975OTOGLc.6260G>T (p.Cys2087Phe)
c.200G>T (p.Cys67Phe)
c.6125G>T (p.Cys2042Phe)
c.1527+118G>T
c.6233G>T (p.Cys2078Phe)
n.516G>T
c.6197G>T (p.Cys2066Phe)
c.284G>T (p.Cys95Phe)
c.388G>T
c.6284G>T (p.Cys2095Phe)
c.6131G>T (p.Cys2044Phe)
c.5918G>T (p.Cys1973Phe)
c.6098G>T (p.Cys2033Phe)
 gnomAD v4
12g.80358894T>ACA385888976OTOGLc.6261T>A (p.Cys2087Ter)
c.201T>A (p.Cys67Ter)
c.6126T>A (p.Cys2042Ter)
c.1527+119T>A
c.6234T>A (p.Cys2078Ter)
n.517T>A
c.6198T>A (p.Cys2066Ter)
c.285T>A (p.Cys95Ter)
c.389T>A
c.6285T>A (p.Cys2095Ter)
c.6132T>A (p.Cys2044Ter)
c.5919T>A (p.Cys1973Ter)
c.6099T>A (p.Cys2033Ter)
12g.80358894T>CCA480823806OTOGLc.6261T>C (p.Cys2087=)
c.201T>C (p.Cys67=)
c.6126T>C (p.Cys2042=)
c.1527+119T>C
c.6234T>C (p.Cys2078=)
n.517T>C
c.6198T>C (p.Cys2066=)
c.285T>C (p.Cys95=)
c.389T>C
c.6285T>C (p.Cys2095=)
c.6132T>C (p.Cys2044=)
c.5919T>C (p.Cys1973=)
c.6099T>C (p.Cys2033=)
 gnomAD v4
12g.80358894T>GCA385888977OTOGLc.6261T>G (p.Cys2087Trp)
c.201T>G (p.Cys67Trp)
c.6126T>G (p.Cys2042Trp)
c.1527+119T>G
c.6234T>G (p.Cys2078Trp)
n.517T>G
c.6198T>G (p.Cys2066Trp)
c.285T>G (p.Cys95Trp)
c.389T>G
c.6285T>G (p.Cys2095Trp)
c.6132T>G (p.Cys2044Trp)
c.5919T>G (p.Cys1973Trp)
c.6099T>G (p.Cys2033Trp)
12g.80358895delCA2511983320OTOGLc.6262del (p.Glu2088LysfsTer8)
c.202del (p.Glu68LysfsTer2)
c.6127del (p.Glu2043LysfsTer8)
c.1527+120del
c.6235del (p.Glu2079LysfsTer8)
n.518del
c.6199del (p.Glu2067LysfsTer8)
c.286del (p.Glu96LysfsTer8)
c.390del
c.6286del (p.Glu2096LysfsTer8)
c.6133del (p.Glu2045LysfsTer8)
c.5920del (p.Glu1974LysfsTer8)
c.6100del (p.Glu2034LysfsTer8)
12g.80358895G>ACA385888978OTOGLc.6262G>A (p.Glu2088Lys)
c.202G>A (p.Glu68Lys)
c.6127G>A (p.Glu2043Lys)
c.1527+120G>A
c.6235G>A (p.Glu2079Lys)
n.518G>A
c.6199G>A (p.Glu2067Lys)
c.286G>A (p.Glu96Lys)
c.390G>A
c.6286G>A (p.Glu2096Lys)
c.6133G>A (p.Glu2045Lys)
c.5920G>A (p.Glu1974Lys)
c.6100G>A (p.Glu2034Lys)
 gnomAD v4
12g.80358895G>CCA385888979OTOGLc.6262G>C (p.Glu2088Gln)
c.202G>C (p.Glu68Gln)
c.6127G>C (p.Glu2043Gln)
c.1527+120G>C
c.6235G>C (p.Glu2079Gln)
n.518G>C
c.6199G>C (p.Glu2067Gln)
c.286G>C (p.Glu96Gln)
c.390G>C
c.6286G>C (p.Glu2096Gln)
c.6133G>C (p.Glu2045Gln)
c.5920G>C (p.Glu1974Gln)
c.6100G>C (p.Glu2034Gln)
12g.80358895G>TCA385888980OTOGLc.6262G>T (p.Glu2088Ter)
c.202G>T (p.Glu68Ter)
c.6127G>T (p.Glu2043Ter)
c.1527+120G>T
c.6235G>T (p.Glu2079Ter)
n.518G>T
c.6199G>T (p.Glu2067Ter)
c.286G>T (p.Glu96Ter)
c.390G>T
c.6286G>T (p.Glu2096Ter)
c.6133G>T (p.Glu2045Ter)
c.5920G>T (p.Glu1974Ter)
c.6100G>T (p.Glu2034Ter)
12g.80358896A>CCA385888983OTOGLc.6263A>C (p.Glu2088Ala)
c.203A>C (p.Glu68Ala)
c.6128A>C (p.Glu2043Ala)
c.1527+121A>C
c.6236A>C (p.Glu2079Ala)
n.519A>C
c.6200A>C (p.Glu2067Ala)
c.287A>C (p.Glu96Ala)
c.391A>C
c.6287A>C (p.Glu2096Ala)
c.6134A>C (p.Glu2045Ala)
c.5921A>C (p.Glu1974Ala)
c.6101A>C (p.Glu2034Ala)
12g.80358896A>GCA385888981OTOGLc.6263A>G (p.Glu2088Gly)
c.203A>G (p.Glu68Gly)
c.6128A>G (p.Glu2043Gly)
c.1527+121A>G
c.6236A>G (p.Glu2079Gly)
n.519A>G
c.6200A>G (p.Glu2067Gly)
c.287A>G (p.Glu96Gly)
c.391A>G
c.6287A>G (p.Glu2096Gly)
c.6134A>G (p.Glu2045Gly)
c.5921A>G (p.Glu1974Gly)
c.6101A>G (p.Glu2034Gly)
 gnomAD v4
12g.80358896A>TCA385888982OTOGLc.6263A>T (p.Glu2088Val)
c.203A>T (p.Glu68Val)
c.6128A>T (p.Glu2043Val)
c.1527+121A>T
c.6236A>T (p.Glu2079Val)
n.519A>T
c.6200A>T (p.Glu2067Val)
c.287A>T (p.Glu96Val)
c.391A>T
c.6287A>T (p.Glu2096Val)
c.6134A>T (p.Glu2045Val)
c.5921A>T (p.Glu1974Val)
c.6101A>T (p.Glu2034Val)
12g.80358897A>CCA385888984OTOGLc.6264A>C (p.Glu2088Asp)
c.204A>C (p.Glu68Asp)
c.6129A>C (p.Glu2043Asp)
c.1527+122A>C
c.6237A>C (p.Glu2079Asp)
n.520A>C
c.6201A>C (p.Glu2067Asp)
c.288A>C (p.Glu96Asp)
c.392A>C
c.6288A>C (p.Glu2096Asp)
c.6135A>C (p.Glu2045Asp)
c.5922A>C (p.Glu1974Asp)
c.6102A>C (p.Glu2034Asp)
12g.80358897A>GCA480823821OTOGLc.6264A>G (p.Glu2088=)
c.204A>G (p.Glu68=)
c.6129A>G (p.Glu2043=)
c.1527+122A>G
c.6237A>G (p.Glu2079=)
n.520A>G
c.6201A>G (p.Glu2067=)
c.288A>G (p.Glu96=)
c.392A>G
c.6288A>G (p.Glu2096=)
c.6135A>G (p.Glu2045=)
c.5922A>G (p.Glu1974=)
c.6102A>G (p.Glu2034=)
 gnomAD v4
12g.80358897A>TCA385888985OTOGLc.6264A>T (p.Glu2088Asp)
c.204A>T (p.Glu68Asp)
c.6129A>T (p.Glu2043Asp)
c.1527+122A>T
c.6237A>T (p.Glu2079Asp)
n.520A>T
c.6201A>T (p.Glu2067Asp)
c.288A>T (p.Glu96Asp)
c.392A>T
c.6288A>T (p.Glu2096Asp)
c.6135A>T (p.Glu2045Asp)
c.5922A>T (p.Glu1974Asp)
c.6102A>T (p.Glu2034Asp)
12g.80358898G>ACA385888986OTOGLc.6265G>A (p.Val2089Met)
c.205G>A (p.Val69Met)
c.6130G>A (p.Val2044Met)
c.1527+123G>A
c.6238G>A (p.Val2080Met)
n.521G>A
c.6202G>A (p.Val2068Met)
c.289G>A (p.Val97Met)
c.393G>A
c.6289G>A (p.Val2097Met)
c.6136G>A (p.Val2046Met)
c.5923G>A (p.Val1975Met)
c.6103G>A (p.Val2035Met)
12g.80358898G>CCA385888987OTOGLc.6265G>C (p.Val2089Leu)
c.205G>C (p.Val69Leu)
c.6130G>C (p.Val2044Leu)
c.1527+123G>C
c.6238G>C (p.Val2080Leu)
n.521G>C
c.6202G>C (p.Val2068Leu)
c.289G>C (p.Val97Leu)
c.393G>C
c.6289G>C (p.Val2097Leu)
c.6136G>C (p.Val2046Leu)
c.5923G>C (p.Val1975Leu)
c.6103G>C (p.Val2035Leu)
 gnomAD v4
12g.80358898G=CA2049208582OTOGLc.6265G= (p.Val2089=)
c.205G= (p.Val69=)
c.6130G= (p.Val2044=)
c.1527+123G=
c.6238G= (p.Val2080=)
n.521G=
c.6202G= (p.Val2068=)
c.289G= (p.Val97=)
c.393G=
c.6289G= (p.Val2097=)
c.6136G= (p.Val2046=)
c.5923G= (p.Val1975=)
c.6103G= (p.Val2035=)
12g.80358898G>TCA6701961OTOGLc.6265G>T (p.Val2089Leu)
c.205G>T (p.Val69Leu)
c.6130G>T (p.Val2044Leu)
c.1527+123G>T
c.6238G>T (p.Val2080Leu)
n.521G>T
c.6202G>T (p.Val2068Leu)
c.289G>T (p.Val97Leu)
c.393G>T
c.6289G>T (p.Val2097Leu)
c.6136G>T (p.Val2046Leu)
c.5923G>T (p.Val1975Leu)
c.6103G>T (p.Val2035Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.80358899T>ACA385888988OTOGLc.6266T>A (p.Val2089Glu)
c.206T>A (p.Val69Glu)
c.6131T>A (p.Val2044Glu)
c.1527+124T>A
c.6239T>A (p.Val2080Glu)
n.522T>A
c.6203T>A (p.Val2068Glu)
c.290T>A (p.Val97Glu)
c.394T>A
c.6290T>A (p.Val2097Glu)
c.6137T>A (p.Val2046Glu)
c.5924T>A (p.Val1975Glu)
c.6104T>A (p.Val2035Glu)
12g.80358899T>CCA385888989OTOGLc.6266T>C (p.Val2089Ala)
c.206T>C (p.Val69Ala)
c.6131T>C (p.Val2044Ala)
c.1527+124T>C
c.6239T>C (p.Val2080Ala)
n.522T>C
c.6203T>C (p.Val2068Ala)
c.290T>C (p.Val97Ala)
c.394T>C
c.6290T>C (p.Val2097Ala)
c.6137T>C (p.Val2046Ala)
c.5924T>C (p.Val1975Ala)
c.6104T>C (p.Val2035Ala)
 gnomAD v4
12g.80358899T>GCA385888990OTOGLc.6266T>G (p.Val2089Gly)
c.206T>G (p.Val69Gly)
c.6131T>G (p.Val2044Gly)
c.1527+124T>G
c.6239T>G (p.Val2080Gly)
n.522T>G
c.6203T>G (p.Val2068Gly)
c.290T>G (p.Val97Gly)
c.394T>G
c.6290T>G (p.Val2097Gly)
c.6137T>G (p.Val2046Gly)
c.5924T>G (p.Val1975Gly)
c.6104T>G (p.Val2035Gly)
12g.80358900G>ACA480823832OTOGLc.6267G>A (p.Val2089=)
c.207G>A (p.Val69=)
c.6132G>A (p.Val2044=)
c.1527+125G>A
c.6240G>A (p.Val2080=)
n.523G>A
c.6204G>A (p.Val2068=)
c.291G>A (p.Val97=)
c.395G>A
c.6291G>A (p.Val2097=)
c.6138G>A (p.Val2046=)
c.5925G>A (p.Val1975=)
c.6105G>A (p.Val2035=)
 gnomAD v4
12g.80358900G>CCA480823830OTOGLc.6267G>C (p.Val2089=)
c.207G>C (p.Val69=)
c.6132G>C (p.Val2044=)
c.1527+125G>C
c.6240G>C (p.Val2080=)
n.523G>C
c.6204G>C (p.Val2068=)
c.291G>C (p.Val97=)
c.395G>C
c.6291G>C (p.Val2097=)
c.6138G>C (p.Val2046=)
c.5925G>C (p.Val1975=)
c.6105G>C (p.Val2035=)
12g.80358900G>TCA480823831OTOGLc.6267G>T (p.Val2089=)
c.207G>T (p.Val69=)
c.6132G>T (p.Val2044=)
c.1527+125G>T
c.6240G>T (p.Val2080=)
n.523G>T
c.6204G>T (p.Val2068=)
c.291G>T (p.Val97=)
c.395G>T
c.6291G>T (p.Val2097=)
c.6138G>T (p.Val2046=)
c.5925G>T (p.Val1975=)
c.6105G>T (p.Val2035=)
 gnomAD v4
12g.80358901delCA2575235850OTOGLc.6267+1del
c.207+1del
c.6132+1del
c.1527+126del
c.6240+1del
n.523+1del
c.6204+1del
c.291+1del
c.395+1del
c.6291+1del
c.6138+1del
c.5925+1del
c.6105+1del
 gnomAD v4
12g.80358901G>ACA385888991OTOGLc.6267+1G>A (n.6267+1G>A)
c.207+1G>A (n.207+1G>A)
c.6132+1G>A (n.6132+1G>A)
c.1527+126G>A
c.6240+1G>A (n.6240+1G>A)
n.523+1G>A
c.6204+1G>A (n.6204+1G>A)
c.291+1G>A (n.291+1G>A)
c.395+1G>A
c.6291+1G>A (n.6291+1G>A)
c.6138+1G>A (n.6138+1G>A)
c.5925+1G>A (n.5925+1G>A)
c.6105+1G>A (n.6105+1G>A)
 gnomAD v4
12g.80358901G>CCA385888992OTOGLc.6267+1G>C (n.6267+1G>C)
c.207+1G>C (n.207+1G>C)
c.6132+1G>C (n.6132+1G>C)
c.1527+126G>C
c.6240+1G>C (n.6240+1G>C)
n.523+1G>C
c.6204+1G>C (n.6204+1G>C)
c.291+1G>C (n.291+1G>C)
c.395+1G>C
c.6291+1G>C (n.6291+1G>C)
c.6138+1G>C (n.6138+1G>C)
c.5925+1G>C (n.5925+1G>C)
c.6105+1G>C (n.6105+1G>C)
 gnomAD v4
12g.80358901G=CA2049208583OTOGLc.6267+1G= (n.6267+1G=)
c.207+1G= (n.207+1G=)
c.6132+1G= (n.6132+1G=)
c.1527+126G=
c.6240+1G= (n.6240+1G=)
n.523+1G=
c.6204+1G= (n.6204+1G=)
c.291+1G= (n.291+1G=)
c.395+1G=
c.6291+1G= (n.6291+1G=)
c.6138+1G= (n.6138+1G=)
c.5925+1G= (n.5925+1G=)
c.6105+1G= (n.6105+1G=)
12g.80358901G>TCA385888993OTOGLc.6267+1G>T (n.6267+1G>T)
c.207+1G>T (n.207+1G>T)
c.6132+1G>T (n.6132+1G>T)
c.1527+126G>T
c.6240+1G>T (n.6240+1G>T)
n.523+1G>T
c.6204+1G>T (n.6204+1G>T)
c.291+1G>T (n.291+1G>T)
c.395+1G>T
c.6291+1G>T (n.6291+1G>T)
c.6138+1G>T (n.6138+1G>T)
c.5925+1G>T (n.5925+1G>T)
c.6105+1G>T (n.6105+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.80358902T>ACA385888995OTOGLc.6267+2T>A (n.6267+2T>A)
c.207+2T>A (n.207+2T>A)
c.6132+2T>A (n.6132+2T>A)
c.1527+127T>A
c.6240+2T>A (n.6240+2T>A)
n.523+2T>A
c.6204+2T>A (n.6204+2T>A)
c.291+2T>A (n.291+2T>A)
c.395+2T>A
c.6291+2T>A (n.6291+2T>A)
c.6138+2T>A (n.6138+2T>A)
c.5925+2T>A (n.5925+2T>A)
c.6105+2T>A (n.6105+2T>A)
 gnomAD v4
12g.80358902T>CCA385888996OTOGLc.6267+2T>C (n.6267+2T>C)
c.207+2T>C (n.207+2T>C)
c.6132+2T>C (n.6132+2T>C)
c.1527+127T>C
c.6240+2T>C (n.6240+2T>C)
n.523+2T>C
c.6204+2T>C (n.6204+2T>C)
c.291+2T>C (n.291+2T>C)
c.395+2T>C
c.6291+2T>C (n.6291+2T>C)
c.6138+2T>C (n.6138+2T>C)
c.5925+2T>C (n.5925+2T>C)
c.6105+2T>C (n.6105+2T>C)
 gnomAD v4
12g.80358902T>GCA385888994OTOGLc.6267+2T>G (n.6267+2T>G)
c.207+2T>G (n.207+2T>G)
c.6132+2T>G (n.6132+2T>G)
c.1527+127T>G
c.6240+2T>G (n.6240+2T>G)
n.523+2T>G
c.6204+2T>G (n.6204+2T>G)
c.291+2T>G (n.291+2T>G)
c.395+2T>G
c.6291+2T>G (n.6291+2T>G)
c.6138+2T>G (n.6138+2T>G)
c.5925+2T>G (n.5925+2T>G)
c.6105+2T>G (n.6105+2T>G)
12g.80358903A=CA2049208584OTOGLc.6267+3A= (n.6267+3A=)
c.207+3A= (n.207+3A=)
c.6132+3A= (n.6132+3A=)
c.1527+128A=
c.6240+3A= (n.6240+3A=)
n.523+3A=
c.6204+3A= (n.6204+3A=)
c.291+3A= (n.291+3A=)
c.395+3A=
c.6291+3A= (n.6291+3A=)
c.6138+3A= (n.6138+3A=)
c.5925+3A= (n.5925+3A=)
c.6105+3A= (n.6105+3A=)
12g.80358903A>GCA606202949OTOGLc.6267+3A>G (n.6267+3A>G)
c.207+3A>G (n.207+3A>G)
c.6132+3A>G (n.6132+3A>G)
c.1527+128A>G
c.6240+3A>G (n.6240+3A>G)
n.523+3A>G
c.6204+3A>G (n.6204+3A>G)
c.291+3A>G (n.291+3A>G)
c.395+3A>G
c.6291+3A>G (n.6291+3A>G)
c.6138+3A>G (n.6138+3A>G)
c.5925+3A>G (n.5925+3A>G)
c.6105+3A>G (n.6105+3A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.80358903A>TCA2049208585OTOGLc.6267+3A>T (n.6267+3A>T)
c.207+3A>T (n.207+3A>T)
c.6132+3A>T (n.6132+3A>T)
c.1527+128A>T
c.6240+3A>T (n.6240+3A>T)
n.523+3A>T
c.6204+3A>T (n.6204+3A>T)
c.291+3A>T (n.291+3A>T)
c.395+3A>T
c.6291+3A>T (n.6291+3A>T)
c.6138+3A>T (n.6138+3A>T)
c.5925+3A>T (n.5925+3A>T)
c.6105+3A>T (n.6105+3A>T)
 dbSNP
12g.80358904delCA2575235851OTOGLc.6267+4del (n.6267+4del)
c.207+4del (n.207+4del)
c.6132+4del (n.6132+4del)
c.1527+129del
c.6240+4del (n.6240+4del)
n.523+4del
c.6204+4del (n.6204+4del)
c.291+4del (n.291+4del)
c.395+4del
c.6291+4del (n.6291+4del)
c.6138+4del (n.6138+4del)
c.5925+4del (n.5925+4del)
c.6105+4del (n.6105+4del)
 gnomAD v4
12g.80358904A>GCA2620017130OTOGLc.6267+4A>G (n.6267+4A>G)
c.207+4A>G (n.207+4A>G)
c.6132+4A>G (n.6132+4A>G)
c.1527+129A>G
c.6240+4A>G (n.6240+4A>G)
n.523+4A>G
c.6204+4A>G (n.6204+4A>G)
c.291+4A>G (n.291+4A>G)
c.395+4A>G
c.6291+4A>G (n.6291+4A>G)
c.6138+4A>G (n.6138+4A>G)
c.5925+4A>G (n.5925+4A>G)
c.6105+4A>G (n.6105+4A>G)
 gnomAD v4
12g.80358904A>TCA2620017131OTOGLc.6267+4A>T (n.6267+4A>T)
c.207+4A>T (n.207+4A>T)
c.6132+4A>T (n.6132+4A>T)
c.1527+129A>T
c.6240+4A>T (n.6240+4A>T)
n.523+4A>T
c.6204+4A>T (n.6204+4A>T)
c.291+4A>T (n.291+4A>T)
c.395+4A>T
c.6291+4A>T (n.6291+4A>T)
c.6138+4A>T (n.6138+4A>T)
c.5925+4A>T (n.5925+4A>T)
c.6105+4A>T (n.6105+4A>T)
 gnomAD v4
12g.80358905G>TCA2620017132OTOGLc.6267+5G>T (n.6267+5G>T)
c.207+5G>T (n.207+5G>T)
c.6132+5G>T (n.6132+5G>T)
c.1527+130G>T
c.6240+5G>T (n.6240+5G>T)
n.523+5G>T
c.6204+5G>T (n.6204+5G>T)
c.291+5G>T (n.291+5G>T)
c.395+5G>T
c.6291+5G>T (n.6291+5G>T)
c.6138+5G>T (n.6138+5G>T)
c.5925+5G>T (n.5925+5G>T)
c.6105+5G>T (n.6105+5G>T)
 gnomAD v4
12g.80358906A>GCA2620017133OTOGLc.6267+6A>G (n.6267+6A>G)
c.207+6A>G (n.207+6A>G)
c.6132+6A>G (n.6132+6A>G)
c.1527+131A>G
c.6240+6A>G (n.6240+6A>G)
n.523+6A>G
c.6204+6A>G (n.6204+6A>G)
c.291+6A>G (n.291+6A>G)
c.395+6A>G
c.6291+6A>G (n.6291+6A>G)
c.6138+6A>G (n.6138+6A>G)
c.5925+6A>G (n.5925+6A>G)
c.6105+6A>G (n.6105+6A>G)
 gnomAD v4
12g.80358907A>GCA2620017134OTOGLc.6267+7A>G (n.6267+7A>G)
c.207+7A>G (n.207+7A>G)
c.6132+7A>G (n.6132+7A>G)
c.1527+132A>G
c.6240+7A>G (n.6240+7A>G)
n.523+7A>G
c.6204+7A>G (n.6204+7A>G)
c.291+7A>G (n.291+7A>G)
c.395+7A>G
c.6291+7A>G (n.6291+7A>G)
c.6138+7A>G (n.6138+7A>G)
c.5925+7A>G (n.5925+7A>G)
c.6105+7A>G (n.6105+7A>G)
 gnomAD v4
12g.80358907_80358908delinsACCA2049208586OTOGLc.6267+7_6267+8delinsAC (n.6267+7_6267+8delinsAC)
c.207+7_207+8delinsAC (n.207+7_207+8delinsAC)
c.6132+7_6132+8delinsAC (n.6132+7_6132+8delinsAC)
c.1527+132_1527+133delinsAC
c.6240+7_6240+8delinsAC (n.6240+7_6240+8delinsAC)
n.523+7_523+8delinsAC
c.6204+7_6204+8delinsAC (n.6204+7_6204+8delinsAC)
c.291+7_291+8delinsAC (n.291+7_291+8delinsAC)
c.395+7_395+8delinsAC
c.6291+7_6291+8delinsAC (n.6291+7_6291+8delinsAC)
c.6138+7_6138+8delinsAC (n.6138+7_6138+8delinsAC)
c.5925+7_5925+8delinsAC (n.5925+7_5925+8delinsAC)
c.6105+7_6105+8delinsAC (n.6105+7_6105+8delinsAC)

Number of alleles fetched