Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.80358814_80358818delinsGTTAA | CA2049208544 | OTOGL | c.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) | |
12 | g.80358818_80358821del | CA2049208545 | OTOGL | c.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 |
12 | g.80358818A>G | CA913749016 | OTOGL | c.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 |
12 | g.80358822T>G | CA692354029 | OTOGL | c.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 |
12 | g.80358822T= | CA2049208546 | OTOGL | c.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=) | |
12 | g.80358825T>C | CA2049208548 | OTOGL | c.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 |
12 | g.80358825T= | CA2049208547 | OTOGL | c.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=) | |
12 | g.80358826G>T | CA2620017113 | OTOGL | c.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 |
12 | g.80358829C>A | CA2620017114 | OTOGL | c.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 |
12 | g.80358829C>T | CA2620017115 | OTOGL | c.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 |
12 | g.80358831A= | CA2049208549 | OTOGL | c.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=) | |
12 | g.80358831A>G | CA240239796 | OTOGL | c.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 |
12 | g.80358832T>A | CA2533092787 | OTOGL | c.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 |
12 | g.80358832T>C | CA692354042 | OTOGL | c.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 |
12 | g.80358832T>G | CA2575235848 | OTOGL | c.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 |
12 | g.80358832T= | CA2049208550 | OTOGL | c.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=) | |
12 | g.80358833G>A | CA2049208552 | OTOGL | c.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 |
12 | g.80358833G= | CA2049208551 | OTOGL | c.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=) | |
12 | g.80358833G>T | CA6701948 | OTOGL | c.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 |
12 | g.80358834_80358835delinsTA | CA2049208553 | OTOGL | c.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) | |
12 | g.80358835A>G | CA2620017116 | OTOGL | c.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 |
12 | g.80358837del | CA692354052 | OTOGL | c.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 |
12 | g.80358836A= | CA2049208555 | OTOGL | c.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=) | |
12 | g.80358836A>C | CA6701949 | OTOGL | c.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 |
12 | g.80358836A>G | CA2049208554 | OTOGL | c.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 |
12 | g.80358839A>G | CA2620017117 | OTOGL | c.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 |
12 | g.80358840T>C | CA6701950 | OTOGL | c.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 |
12 | g.80358840T= | CA2049208556 | OTOGL | c.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=) | |
12 | g.80358841G>A | CA2620017118 | OTOGL | c.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 |
12 | g.80358843del | CA2535112806 | OTOGL | c.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) | |
12 | g.80358843T>G | CA655055956 | OTOGL | c.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 |
12 | g.80358844G>C | CA2620017120 | OTOGL | c.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 |
12 | g.80358844G>T | CA2620017119 | OTOGL | c.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 |
12 | g.80358845del | CA2529730093 | OTOGL | c.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) | |
12 | g.80358845A= | CA2049208557 | OTOGL | c.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=) | |
12 | g.80358845A>T | CA606202933 | OTOGL | c.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 |
12 | g.80358846T>C | CA6701951 | OTOGL | c.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 |
12 | g.80358846T= | CA2049208558 | OTOGL | c.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=) | |
12 | g.80358850del | CA2620017121 | OTOGL | c.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 |
12 | g.80358847T>A | CA949708888 | OTOGL | c.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 |
12 | g.80358847T= | CA2049208559 | OTOGL | c.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=) | |
12 | g.80358850T>A | CA2049208561 | OTOGL | c.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 |
12 | g.80358850T= | CA2049208560 | OTOGL | c.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=) | |
12 | g.80358851G>T | CA2620017123 | OTOGL | c.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 |
12 | g.80358851_80358853del | CA2620017122 | OTOGL | c.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 |
12 | g.80358852C>A | CA2620017124 | OTOGL | c.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 |
12 | g.80358852C>T | CA2620017125 | OTOGL | c.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 |
12 | g.80358857del | CA2620017126 | OTOGL | c.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 |
12 | g.80358856_80358857del | CA2575235849 | OTOGL | c.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) | |
12 | g.80358858A>C | CA385888895 | OTOGL | c.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) | |
12 | g.80358858A>G | CA385888896 | OTOGL | c.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 |
12 | g.80358858A>T | CA385888897 | OTOGL | c.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) | |
12 | g.80358858_80358861del | CA2620017127 | OTOGL | c.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 |
12 | g.80358859_80358861del | CA2796693848 | OTOGL | c.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 | |
12 | g.80358859G>A | CA385888899 | OTOGL | c.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 |
12 | g.80358859G>C | CA385888900 | OTOGL | c.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) | |
12 | g.80358859G= | CA2049208562 | OTOGL | c.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=) | |
12 | g.80358859G>T | CA385888898 | OTOGL | c.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 |
12 | g.80358860A>C | CA385888901 | OTOGL | c.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) | |
12 | g.80358860A>G | CA385888902 | OTOGL | c.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) | |
12 | g.80358860A>T | CA385888903 | OTOGL | c.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) | |
12 | g.80358860_80358861insTTTTTT | CA2796693849 | OTOGL | c.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) | |
12 | g.80358861A>C | CA385888904 | OTOGL | c.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) | |
12 | g.80358861A>G | CA480823633 | OTOGL | c.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=) | |
12 | g.80358861A>T | CA385888905 | OTOGL | c.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) | |
12 | g.80358862T>A | CA385888906 | OTOGL | c.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) | |
12 | g.80358862T>C | CA240239811 | OTOGL | c.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 |
12 | g.80358862T>G | CA6701952 | OTOGL | c.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 |
12 | g.80358862T= | CA2049208563 | OTOGL | c.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=) | |
12 | g.80358863G>A | CA240239829 | OTOGL | c.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 |
12 | g.80358863G>C | CA385888907 | OTOGL | c.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) | |
12 | g.80358863G= | CA2049208564 | OTOGL | c.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=) | |
12 | g.80358863G>T | CA385888908 | OTOGL | c.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) | |
12 | g.80358863_80358864insGCA | CA2505125104 | OTOGL | c.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) | |
12 | g.80358864T>A | CA385888909 | OTOGL | c.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) | |
12 | g.80358864T>C | CA480823652 | OTOGL | c.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=) | |
12 | g.80358864T>G | CA385888910 | OTOGL | c.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) | |
12 | g.80358865A= | CA2049208565 | OTOGL | c.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=) | |
12 | g.80358865A>C | CA385888911 | OTOGL | c.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 |
12 | g.80358865A>G | CA385888913 | OTOGL | c.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 |
12 | g.80358865A>T | CA385888912 | OTOGL | c.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) | |
12 | g.80358866A>C | CA385888914 | OTOGL | c.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) | |
12 | g.80358866A>G | CA385888915 | OTOGL | c.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 |
12 | g.80358866A>T | CA385888916 | OTOGL | c.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) | |
12 | g.80358867C>A | CA385888917 | OTOGL | c.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 |
12 | g.80358867C>G | CA385888918 | OTOGL | c.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) | |
12 | g.80358867C>T | CA480823670 | OTOGL | c.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=) | |
12 | g.80358867_80358869delinsCTG | CA2049208566 | OTOGL | c.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=) | |
12 | g.80358868T>A | CA385888919 | OTOGL | c.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 |
12 | g.80358868T>C | CA385888920 | OTOGL | c.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 |
12 | g.80358868T>G | CA385888921 | OTOGL | c.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) | |
12 | g.80358870_80358871del | CA2049208567 | OTOGL | c.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 |
12 | g.80358868_80358872del | CA2502068130 | OTOGL | c.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) | |
12 | g.80358869G>A | CA385888922 | OTOGL | c.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 |
12 | g.80358869G>C | CA385888923 | OTOGL | c.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) | |
12 | g.80358869G>T | CA385888924 | OTOGL | c.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 |
12 | g.80358870T>A | CA385888925 | OTOGL | c.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 |
12 | g.80358870T>C | CA480823687 | OTOGL | c.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 |
12 | g.80358870T>G | CA385888926 | OTOGL | c.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) | |
12 | g.80358870T= | CA2049208568 | OTOGL | c.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=) | |
12 | g.80358871G>A | CA6701953 | OTOGL | c.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 |
12 | g.80358871G>C | CA6701954 | OTOGL | c.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 |
12 | g.80358871G= | CA2049208569 | OTOGL | c.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=) | |
12 | g.80358871G>T | CA385888927 | OTOGL | c.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 |
12 | g.80358871_80358872delinsGA | CA2049208570 | OTOGL | c.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=) | |
12 | g.80358872A>C | CA385888928 | OTOGL | c.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) | |
12 | g.80358872A>G | CA385888929 | OTOGL | c.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 |
12 | g.80358872A>T | CA385888930 | OTOGL | c.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 |
12 | g.80358875del | CA949708889 | OTOGL | c.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 |
12 | g.80358873A>C | CA385888931 | OTOGL | c.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) | |
12 | g.80358873A>G | CA480823702 | OTOGL | c.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=) | |
12 | g.80358873A>T | CA385888932 | OTOGL | c.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) | |
12 | g.80358874A>C | CA385888933 | OTOGL | c.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) | |
12 | g.80358874A>G | CA385888934 | OTOGL | c.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) | |
12 | g.80358874A>T | CA385888935 | OTOGL | c.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) | |
12 | g.80358874_80358875insGGTTTTC | CA2502068131 | OTOGL | c.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) | |
12 | g.80358875A>C | CA385888936 | OTOGL | c.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) | |
12 | g.80358875A>G | CA385888937 | OTOGL | c.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 |
12 | g.80358875A>T | CA385888938 | OTOGL | c.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 |
12 | g.80358876C>A | CA385888939 | OTOGL | c.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 |
12 | g.80358876C>G | CA385888940 | OTOGL | c.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) | |
12 | g.80358876C>T | CA480823719 | OTOGL | c.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 |
12 | g.80358877C>A | CA385888942 | OTOGL | c.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 |
12 | g.80358877C>G | CA385888943 | OTOGL | c.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) | |
12 | g.80358877C>T | CA385888941 | OTOGL | c.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) | |
12 | g.80358877_80358879del | CA2551661409 | OTOGL | c.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) | |
12 | g.80358878T>A | CA385888944 | OTOGL | c.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 |
12 | g.80358878T>C | CA385888945 | OTOGL | c.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 |
12 | g.80358878T>G | CA385888946 | OTOGL | c.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) | |
12 | g.80358882_80358884del | CA2620017128 | OTOGL | c.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 |
12 | g.80358879T>A | CA480823731 | OTOGL | c.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=) | |
12 | g.80358879T>C | CA480823733 | OTOGL | c.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 |
12 | g.80358879T>G | CA480823736 | OTOGL | c.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=) | |
12 | g.80358880del | CA2620017129 | OTOGL | c.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 |
12 | g.80358880A= | CA2049208571 | OTOGL | c.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=) | |
12 | g.80358880A>C | CA385888947 | OTOGL | c.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 |
12 | g.80358880A>G | CA6701955 | OTOGL | c.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 |
12 | g.[80358880A>G;80358881T>C] | CA645372918 | OTOGL | c.[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]) | |
12 | g.80358880A>T | CA385888948 | OTOGL | c.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 |
12 | g.80358880_80358881insG | CA2534604276 | OTOGL | c.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) | |
12 | g.80358881T>A | CA385888949 | OTOGL | c.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) | |
12 | g.80358881T>C | CA6701956 | OTOGL | c.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 |
12 | g.80358881T>G | CA385888950 | OTOGL | c.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 |
12 | g.80358881T= | CA2049208572 | OTOGL | c.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=) | |
12 | g.80358882T>A | CA480823748 | OTOGL | c.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=) | |
12 | g.80358882T>C | CA6701957 | OTOGL | c.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 |
12 | g.80358882T>G | CA385888951 | OTOGL | c.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) | |
12 | g.80358882T= | CA2049208573 | OTOGL | c.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=) | |
12 | g.80358883A>C | CA385888954 | OTOGL | c.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) | |
12 | g.80358883A>G | CA385888953 | OTOGL | c.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) | |
12 | g.80358883A>T | CA385888952 | OTOGL | c.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) | |
12 | g.80358884T>A | CA385888955 | OTOGL | c.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 |
12 | g.80358884T>C | CA385888956 | OTOGL | c.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 |
12 | g.80358884T>G | CA385888957 | OTOGL | c.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) | |
12 | g.80358884_80358886del | CA2510404853 | OTOGL | c.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) | |
12 | g.80358885G>A | CA6701958 | OTOGL | c.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 |
12 | g.80358885G>C | CA385888958 | OTOGL | c.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 |
12 | g.80358885G= | CA2049208574 | OTOGL | c.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=) | |
12 | g.80358885G>T | CA385888959 | OTOGL | c.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 |
12 | g.80358886C>A | CA385888960 | OTOGL | c.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 |
12 | g.80358886C= | CA2049208575 | OTOGL | c.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=) | |
12 | g.80358886C>G | CA385888961 | OTOGL | c.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) | |
12 | g.80358886C>T | CA6701959 | OTOGL | c.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 |
12 | g.80358887C>A | CA385888962 | OTOGL | c.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 |
12 | g.80358887C= | CA2049208576 | OTOGL | c.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=) | |
12 | g.80358887C>G | CA385888963 | OTOGL | c.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) | |
12 | g.80358887C>T | CA6701960 | OTOGL | c.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 |
12 | g.80358888A= | CA2049208577 | OTOGL | c.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=) | |
12 | g.80358888A>C | CA480823782 | OTOGL | c.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=) | |
12 | g.80358888A>G | CA240239884 | OTOGL | c.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 |
12 | g.80358888A>T | CA480823780 | OTOGL | c.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=) | |
12 | g.80358889A>C | CA385888965 | OTOGL | c.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 |
12 | g.80358889A>G | CA385888966 | OTOGL | c.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 |
12 | g.80358889A>T | CA385888964 | OTOGL | c.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) | |
12 | g.80358889_80358890del | CA2530929450 | OTOGL | c.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) | |
12 | g.80358889_80358890delinsAC | CA2049208578 | OTOGL | c.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=) | |
12 | g.80358890del | CA606202944 | OTOGL | c.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 |
12 | g.80358890C>A | CA385888968 | OTOGL | c.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 |
12 | g.80358890C= | CA2049208579 | OTOGL | c.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=) | |
12 | g.80358890C>G | CA385888967 | OTOGL | c.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) | |
12 | g.80358890C>T | CA385888969 | OTOGL | c.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 |
12 | g.80358891T>A | CA480823791 | OTOGL | c.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=) | |
12 | g.80358891T>C | CA240239886 | OTOGL | c.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 |
12 | g.80358891T>G | CA480823796 | OTOGL | c.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=) | |
12 | g.80358891T= | CA2049208580 | OTOGL | c.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=) | |
12 | g.80358892T>A | CA385888970 | OTOGL | c.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) | |
12 | g.80358892T>C | CA385888971 | OTOGL | c.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 |
12 | g.80358892T>G | CA385888972 | OTOGL | c.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 |
12 | g.80358893G>A | CA385888973 | OTOGL | c.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 |
12 | g.80358893G>C | CA385888974 | OTOGL | c.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) | |
12 | g.80358893G= | CA2049208581 | OTOGL | c.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=) | |
12 | g.80358893G>T | CA385888975 | OTOGL | c.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 |
12 | g.80358894T>A | CA385888976 | OTOGL | c.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) | |
12 | g.80358894T>C | CA480823806 | OTOGL | c.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 |
12 | g.80358894T>G | CA385888977 | OTOGL | c.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) | |
12 | g.80358895del | CA2511983320 | OTOGL | c.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) | |
12 | g.80358895G>A | CA385888978 | OTOGL | c.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 |
12 | g.80358895G>C | CA385888979 | OTOGL | c.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) | |
12 | g.80358895G>T | CA385888980 | OTOGL | c.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) | |
12 | g.80358896A>C | CA385888983 | OTOGL | c.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) | |
12 | g.80358896A>G | CA385888981 | OTOGL | c.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 |
12 | g.80358896A>T | CA385888982 | OTOGL | c.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) | |
12 | g.80358897A>C | CA385888984 | OTOGL | c.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) | |
12 | g.80358897A>G | CA480823821 | OTOGL | c.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 |
12 | g.80358897A>T | CA385888985 | OTOGL | c.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) | |
12 | g.80358898G>A | CA385888986 | OTOGL | c.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) | |
12 | g.80358898G>C | CA385888987 | OTOGL | c.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 |
12 | g.80358898G= | CA2049208582 | OTOGL | c.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=) | |
12 | g.80358898G>T | CA6701961 | OTOGL | c.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 |
12 | g.80358899T>A | CA385888988 | OTOGL | c.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) | |
12 | g.80358899T>C | CA385888989 | OTOGL | c.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 |
12 | g.80358899T>G | CA385888990 | OTOGL | c.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) | |
12 | g.80358900G>A | CA480823832 | OTOGL | c.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 |
12 | g.80358900G>C | CA480823830 | OTOGL | c.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=) | |
12 | g.80358900G>T | CA480823831 | OTOGL | c.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 |
12 | g.80358901del | CA2575235850 | OTOGL | c.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 |
12 | g.80358901G>A | CA385888991 | OTOGL | c.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 |
12 | g.80358901G>C | CA385888992 | OTOGL | c.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 |
12 | g.80358901G= | CA2049208583 | OTOGL | c.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=) | |
12 | g.80358901G>T | CA385888993 | OTOGL | c.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 |
12 | g.80358902T>A | CA385888995 | OTOGL | c.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 |
12 | g.80358902T>C | CA385888996 | OTOGL | c.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 |
12 | g.80358902T>G | CA385888994 | OTOGL | c.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) | |
12 | g.80358903A= | CA2049208584 | OTOGL | c.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=) | |
12 | g.80358903A>G | CA606202949 | OTOGL | c.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 |
12 | g.80358903A>T | CA2049208585 | OTOGL | c.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 |
12 | g.80358904del | CA2575235851 | OTOGL | c.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 |
12 | g.80358904A>G | CA2620017130 | OTOGL | c.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 |
12 | g.80358904A>T | CA2620017131 | OTOGL | c.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 |
12 | g.80358905G>T | CA2620017132 | OTOGL | c.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 |
12 | g.80358906A>G | CA2620017133 | OTOGL | c.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 |
12 | g.80358907A>G | CA2620017134 | OTOGL | c.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 |
12 | g.80358907_80358908delinsAC | CA2049208586 | OTOGL | c.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) | |
12 | g.80358908del | CA919129276 | OTOGL | c.6267+8del (n.6267+8del) c.207+8del (n.207+8del) c.6132+8del (n.6132+8del) c.1527+133del c.6240+8del (n.6240+8del) n.523+8del c.6204+8del (n.6204+8del) c.291+8del (n.291+8del) c.395+8del c.6291+8del (n.6291+8del) c.6138+8del (n.6138+8del) c.5925+8del (n.5925+8del) c.6105+8del (n.6105+8del) | dbSNP gnomAD v4 |
12 | g.80358908C>A | CA2620017135 | OTOGL | c.6267+8C>A (n.6267+8C>A) c.207+8C>A (n.207+8C>A) c.6132+8C>A (n.6132+8C>A) c.1527+133C>A c.6240+8C>A (n.6240+8C>A) n.523+8C>A c.6204+8C>A (n.6204+8C>A) c.291+8C>A (n.291+8C>A) c.395+8C>A c.6291+8C>A (n.6291+8C>A) c.6138+8C>A (n.6138+8C>A) c.5925+8C>A (n.5925+8C>A) c.6105+8C>A (n.6105+8C>A) | gnomAD v4 |
12 | g.80358908C>T | CA2620017136 | OTOGL | c.6267+8C>T (n.6267+8C>T) c.207+8C>T (n.207+8C>T) c.6132+8C>T (n.6132+8C>T) c.1527+133C>T c.6240+8C>T (n.6240+8C>T) n.523+8C>T c.6204+8C>T (n.6204+8C>T) c.291+8C>T (n.291+8C>T) c.395+8C>T c.6291+8C>T (n.6291+8C>T) c.6138+8C>T (n.6138+8C>T) c.5925+8C>T (n.5925+8C>T) c.6105+8C>T (n.6105+8C>T) | gnomAD v4 |
12 | g.80358909A= | CA2049208587 | OTOGL | c.6267+9A= (n.6267+9A=) c.207+9A= (n.207+9A=) c.6132+9A= (n.6132+9A=) c.1527+134A= c.6240+9A= (n.6240+9A=) n.523+9A= c.6204+9A= (n.6204+9A=) c.291+9A= (n.291+9A=) c.395+9A= c.6291+9A= (n.6291+9A=) c.6138+9A= (n.6138+9A=) c.5925+9A= (n.5925+9A=) c.6105+9A= (n.6105+9A=) | |
12 | g.80358909A>G | CA240239898 | OTOGL | c.6267+9A>G (n.6267+9A>G) c.207+9A>G (n.207+9A>G) c.6132+9A>G (n.6132+9A>G) c.1527+134A>G c.6240+9A>G (n.6240+9A>G) n.523+9A>G c.6204+9A>G (n.6204+9A>G) c.291+9A>G (n.291+9A>G) c.395+9A>G c.6291+9A>G (n.6291+9A>G) c.6138+9A>G (n.6138+9A>G) c.5925+9A>G (n.5925+9A>G) c.6105+9A>G (n.6105+9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80358909A>T | CA2620017137 | OTOGL | c.6267+9A>T (n.6267+9A>T) c.207+9A>T (n.207+9A>T) c.6132+9A>T (n.6132+9A>T) c.1527+134A>T c.6240+9A>T (n.6240+9A>T) n.523+9A>T c.6204+9A>T (n.6204+9A>T) c.291+9A>T (n.291+9A>T) c.395+9A>T c.6291+9A>T (n.6291+9A>T) c.6138+9A>T (n.6138+9A>T) c.5925+9A>T (n.5925+9A>T) c.6105+9A>T (n.6105+9A>T) | gnomAD v4 |
12 | g.80358910C>A | CA2620017138 | OTOGL | c.6267+10C>A (n.6267+10C>A) c.207+10C>A (n.207+10C>A) c.6132+10C>A (n.6132+10C>A) c.1527+135C>A c.6240+10C>A (n.6240+10C>A) n.523+10C>A c.6204+10C>A (n.6204+10C>A) c.291+10C>A (n.291+10C>A) c.395+10C>A c.6291+10C>A (n.6291+10C>A) c.6138+10C>A (n.6138+10C>A) c.5925+10C>A (n.5925+10C>A) c.6105+10C>A (n.6105+10C>A) | gnomAD v4 |
12 | g.80358910C>T | CA606202953 | OTOGL | c.6267+10C>T (n.6267+10C>T) c.207+10C>T (n.207+10C>T) c.6132+10C>T (n.6132+10C>T) c.1527+135C>T c.6240+10C>T (n.6240+10C>T) n.523+10C>T c.6204+10C>T (n.6204+10C>T) c.291+10C>T (n.291+10C>T) c.395+10C>T c.6291+10C>T (n.6291+10C>T) c.6138+10C>T (n.6138+10C>T) c.5925+10C>T (n.5925+10C>T) c.6105+10C>T (n.6105+10C>T) | gnomAD v2 gnomAD v4 |
12 | g.80358910_80358912delinsCAT | CA2049208588 | OTOGL | c.6267+10_6267+12delinsCAT (n.6267+10_6267+12delinsCAT) c.207+10_207+12delinsCAT (n.207+10_207+12delinsCAT) c.6132+10_6132+12delinsCAT (n.6132+10_6132+12delinsCAT) c.1527+135_1527+137delinsCAT c.6240+10_6240+12delinsCAT (n.6240+10_6240+12delinsCAT) n.523+10_523+12delinsCAT c.6204+10_6204+12delinsCAT (n.6204+10_6204+12delinsCAT) c.291+10_291+12delinsCAT (n.291+10_291+12delinsCAT) c.395+10_395+12delinsCAT c.6291+10_6291+12delinsCAT (n.6291+10_6291+12delinsCAT) c.6138+10_6138+12delinsCAT (n.6138+10_6138+12delinsCAT) c.5925+10_5925+12delinsCAT (n.5925+10_5925+12delinsCAT) c.6105+10_6105+12delinsCAT (n.6105+10_6105+12delinsCAT) | |
12 | g.80358911A= | CA2049208589 | OTOGL | c.6267+11A= (n.6267+11A=) c.207+11A= (n.207+11A=) c.6132+11A= (n.6132+11A=) c.1527+136A= c.6240+11A= (n.6240+11A=) n.523+11A= c.6204+11A= (n.6204+11A=) c.291+11A= (n.291+11A=) c.395+11A= c.6291+11A= (n.6291+11A=) c.6138+11A= (n.6138+11A=) c.5925+11A= (n.5925+11A=) c.6105+11A= (n.6105+11A=) | |
12 | g.80358911A>G | CA6701962 | OTOGL | c.6267+11A>G (n.6267+11A>G) c.207+11A>G (n.207+11A>G) c.6132+11A>G (n.6132+11A>G) c.1527+136A>G c.6240+11A>G (n.6240+11A>G) n.523+11A>G c.6204+11A>G (n.6204+11A>G) c.291+11A>G (n.291+11A>G) c.395+11A>G c.6291+11A>G (n.6291+11A>G) c.6138+11A>G (n.6138+11A>G) c.5925+11A>G (n.5925+11A>G) c.6105+11A>G (n.6105+11A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.80358913_80358914del | CA606202955 | OTOGL | c.6267+13_6267+14del (n.6267+13_6267+14del) c.207+13_207+14del (n.207+13_207+14del) c.6132+13_6132+14del (n.6132+13_6132+14del) c.1527+138_1527+139del c.6240+13_6240+14del (n.6240+13_6240+14del) n.523+13_523+14del c.6204+13_6204+14del (n.6204+13_6204+14del) c.291+13_291+14del (n.291+13_291+14del) c.395+13_395+14del c.6291+13_6291+14del (n.6291+13_6291+14del) c.6138+13_6138+14del (n.6138+13_6138+14del) c.5925+13_5925+14del (n.5925+13_5925+14del) c.6105+13_6105+14del (n.6105+13_6105+14del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80358913A= | CA2049208590 | OTOGL | c.6267+13A= (n.6267+13A=) c.207+13A= (n.207+13A=) c.6132+13A= (n.6132+13A=) c.1527+138A= c.6240+13A= (n.6240+13A=) n.523+13A= c.6204+13A= (n.6204+13A=) c.291+13A= (n.291+13A=) c.395+13A= c.6291+13A= (n.6291+13A=) c.6138+13A= (n.6138+13A=) c.5925+13A= (n.5925+13A=) c.6105+13A= (n.6105+13A=) | |
12 | g.80358913A>G | CA606202959 | OTOGL | c.6267+13A>G (n.6267+13A>G) c.207+13A>G (n.207+13A>G) c.6132+13A>G (n.6132+13A>G) c.1527+138A>G c.6240+13A>G (n.6240+13A>G) n.523+13A>G c.6204+13A>G (n.6204+13A>G) c.291+13A>G (n.291+13A>G) c.395+13A>G c.6291+13A>G (n.6291+13A>G) c.6138+13A>G (n.6138+13A>G) c.5925+13A>G (n.5925+13A>G) c.6105+13A>G (n.6105+13A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80358914T>G | CA606202961 | OTOGL | c.6267+14T>G (n.6267+14T>G) c.207+14T>G (n.207+14T>G) c.6132+14T>G (n.6132+14T>G) c.1527+139T>G c.6240+14T>G (n.6240+14T>G) n.523+14T>G c.6204+14T>G (n.6204+14T>G) c.291+14T>G (n.291+14T>G) c.395+14T>G c.6291+14T>G (n.6291+14T>G) c.6138+14T>G (n.6138+14T>G) c.5925+14T>G (n.5925+14T>G) c.6105+14T>G (n.6105+14T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80358914T= | CA2049208591 | OTOGL | c.6267+14T= (n.6267+14T=) c.207+14T= (n.207+14T=) c.6132+14T= (n.6132+14T=) c.1527+139T= c.6240+14T= (n.6240+14T=) n.523+14T= c.6204+14T= (n.6204+14T=) c.291+14T= (n.291+14T=) c.395+14T= c.6291+14T= (n.6291+14T=) c.6138+14T= (n.6138+14T=) c.5925+14T= (n.5925+14T=) c.6105+14T= (n.6105+14T=) | |
12 | g.80358917del | CA2620017139 | OTOGL | c.6267+17del (n.6267+17del) c.207+17del (n.207+17del) c.6132+17del (n.6132+17del) c.1527+142del c.6240+17del (n.6240+17del) n.523+17del c.6204+17del (n.6204+17del) c.291+17del (n.291+17del) c.395+17del c.6291+17del (n.6291+17del) c.6138+17del (n.6138+17del) c.5925+17del (n.5925+17del) c.6105+17del (n.6105+17del) | gnomAD v4 |
12 | g.80358915T>C | CA2620017140 | OTOGL | c.6267+15T>C (n.6267+15T>C) c.207+15T>C (n.207+15T>C) c.6132+15T>C (n.6132+15T>C) c.1527+140T>C c.6240+15T>C (n.6240+15T>C) n.523+15T>C c.6204+15T>C (n.6204+15T>C) c.291+15T>C (n.291+15T>C) c.395+15T>C c.6291+15T>C (n.6291+15T>C) c.6138+15T>C (n.6138+15T>C) c.5925+15T>C (n.5925+15T>C) c.6105+15T>C (n.6105+15T>C) | gnomAD v4 |
12 | g.80358916T>C | CA2620017141 | OTOGL | c.6267+16T>C (n.6267+16T>C) c.207+16T>C (n.207+16T>C) c.6132+16T>C (n.6132+16T>C) c.1527+141T>C c.6240+16T>C (n.6240+16T>C) n.523+16T>C c.6204+16T>C (n.6204+16T>C) c.291+16T>C (n.291+16T>C) c.395+16T>C c.6291+16T>C (n.6291+16T>C) c.6138+16T>C (n.6138+16T>C) c.5925+16T>C (n.5925+16T>C) c.6105+16T>C (n.6105+16T>C) | gnomAD v4 |
12 | g.80358916T>G | CA606202963 | OTOGL | c.6267+16T>G (n.6267+16T>G) c.207+16T>G (n.207+16T>G) c.6132+16T>G (n.6132+16T>G) c.1527+141T>G c.6240+16T>G (n.6240+16T>G) n.523+16T>G c.6204+16T>G (n.6204+16T>G) c.291+16T>G (n.291+16T>G) c.395+16T>G c.6291+16T>G (n.6291+16T>G) c.6138+16T>G (n.6138+16T>G) c.5925+16T>G (n.5925+16T>G) c.6105+16T>G (n.6105+16T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.80358916T= | CA2049208592 | OTOGL | c.6267+16T= (n.6267+16T=) c.207+16T= (n.207+16T=) c.6132+16T= (n.6132+16T=) c.1527+141T= c.6240+16T= (n.6240+16T=) n.523+16T= c.6204+16T= (n.6204+16T=) c.291+16T= (n.291+16T=) c.395+16T= c.6291+16T= (n.6291+16T=) c.6138+16T= (n.6138+16T=) c.5925+16T= (n.5925+16T=) c.6105+16T= (n.6105+16T=) | |
12 | g.80358917T>A | CA2620017142 | OTOGL | c.6267+17T>A (n.6267+17T>A) c.207+17T>A (n.207+17T>A) c.6132+17T>A (n.6132+17T>A) c.1527+142T>A c.6240+17T>A (n.6240+17T>A) n.523+17T>A c.6204+17T>A (n.6204+17T>A) c.291+17T>A (n.291+17T>A) c.395+17T>A c.6291+17T>A (n.6291+17T>A) c.6138+17T>A (n.6138+17T>A) c.5925+17T>A (n.5925+17T>A) c.6105+17T>A (n.6105+17T>A) | gnomAD v4 |
12 | g.80358918G>A | CA2620017143 | OTOGL | c.6267+18G>A (n.6267+18G>A) c.207+18G>A (n.207+18G>A) c.6132+18G>A (n.6132+18G>A) c.1527+143G>A c.6240+18G>A (n.6240+18G>A) n.523+18G>A c.6204+18G>A (n.6204+18G>A) c.291+18G>A (n.291+18G>A) c.395+18G>A c.6291+18G>A (n.6291+18G>A) c.6138+18G>A (n.6138+18G>A) c.5925+18G>A (n.5925+18G>A) c.6105+18G>A (n.6105+18G>A) | gnomAD v4 |
12 | g.80358918G>T | CA2620017144 | OTOGL | c.6267+18G>T (n.6267+18G>T) c.207+18G>T (n.207+18G>T) c.6132+18G>T (n.6132+18G>T) c.1527+143G>T c.6240+18G>T (n.6240+18G>T) n.523+18G>T c.6204+18G>T (n.6204+18G>T) c.291+18G>T (n.291+18G>T) c.395+18G>T c.6291+18G>T (n.6291+18G>T) c.6138+18G>T (n.6138+18G>T) c.5925+18G>T (n.5925+18G>T) c.6105+18G>T (n.6105+18G>T) | gnomAD v4 |