| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17642200G>A | CA5906282 | OTOG | c.8405G>A (p.Arg2802His) c.8369G>A (p.Arg2790His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642200G>C | CA379787070 | OTOG | c.8405G>C (p.Arg2802Pro) c.8369G>C (p.Arg2790Pro) | |
| 11 | g.17642200G= | CA1955240452 | OTOG | c.8405G= (p.Arg2802=) c.8369G= (p.Arg2790=) | |
| 11 | g.17642200G>T | CA379787074 | OTOG | c.8405G>T (p.Arg2802Leu) c.8369G>T (p.Arg2790Leu) | |
| 11 | g.17642201C>A | CA473300191 | OTOG | c.8406C>A (p.Arg2802=) c.8370C>A (p.Arg2790=) | gnomAD v4 |
| 11 | g.17642201C>G | CA473300190 | OTOG | c.8406C>G (p.Arg2802=) c.8370C>G (p.Arg2790=) | |
| 11 | g.17642201C>T | CA473300189 | OTOG | c.8406C>T (p.Arg2802=) c.8370C>T (p.Arg2790=) | |
| 11 | g.17642202T>A | CA379787082 | OTOG | c.8407T>A (p.Ser2803Thr) c.8371T>A (p.Ser2791Thr) | |
| 11 | g.17642202T>C | CA379787088 | OTOG | c.8407T>C (p.Ser2803Pro) c.8371T>C (p.Ser2791Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642202T>G | CA379787097 | OTOG | c.8407T>G (p.Ser2803Ala) c.8371T>G (p.Ser2791Ala) | |
| 11 | g.17642202T= | CA1955240453 | OTOG | c.8407T= (p.Ser2803=) c.8371T= (p.Ser2791=) | |
| 11 | g.17642203C>A | CA379787119 | OTOG | c.8408C>A (p.Ser2803Tyr) c.8372C>A (p.Ser2791Tyr) | |
| 11 | g.17642203C= | CA1955240454 | OTOG | c.8408C= (p.Ser2803=) c.8372C= (p.Ser2791=) | |
| 11 | g.17642203C>G | CA379787136 | OTOG | c.8408C>G (p.Ser2803Cys) c.8372C>G (p.Ser2791Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642203C>T | CA379787160 | OTOG | c.8408C>T (p.Ser2803Phe) c.8372C>T (p.Ser2791Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642204T>A | CA473300193 | OTOG | c.8409T>A (p.Ser2803=) c.8373T>A (p.Ser2791=) | |
| 11 | g.17642204T>C | CA473300194 | OTOG | c.8409T>C (p.Ser2803=) c.8373T>C (p.Ser2791=) | |
| 11 | g.17642204T>G | CA473300195 | OTOG | c.8409T>G (p.Ser2803=) c.8373T>G (p.Ser2791=) | |
| 11 | g.17642205C>A | CA379787176 | OTOG | c.8410C>A (p.Pro2804Thr) c.8374C>A (p.Pro2792Thr) | |
| 11 | g.17642205C= | CA1955240455 | OTOG | c.8410C= (p.Pro2804=) c.8374C= (p.Pro2792=) | |
| 11 | g.17642205C>G | CA379787182 | OTOG | c.8410C>G (p.Pro2804Ala) c.8374C>G (p.Pro2792Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642205C>T | CA379787184 | OTOG | c.8410C>T (p.Pro2804Ser) c.8374C>T (p.Pro2792Ser) | |
| 11 | g.17642206C>A | CA379787215 | OTOG | c.8411C>A (p.Pro2804His) c.8375C>A (p.Pro2792His) | gnomAD v4 |
| 11 | g.17642206C= | CA1955240456 | OTOG | c.8411C= (p.Pro2804=) c.8375C= (p.Pro2792=) | |
| 11 | g.17642206C>G | CA379787190 | OTOG | c.8411C>G (p.Pro2804Arg) c.8375C>G (p.Pro2792Arg) | |
| 11 | g.17642206C>T | CA379787203 | OTOG | c.8411C>T (p.Pro2804Leu) c.8375C>T (p.Pro2792Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642207C>A | CA473300199 | OTOG | c.8412C>A (p.Pro2804=) c.8376C>A (p.Pro2792=) | gnomAD v4 |
| 11 | g.17642207C>G | CA473300202 | OTOG | c.8412C>G (p.Pro2804=) c.8376C>G (p.Pro2792=) | |
| 11 | g.17642207C>T | CA473300200 | OTOG | c.8412C>T (p.Pro2804=) c.8376C>T (p.Pro2792=) | |
| 11 | g.17642208A= | CA1955240457 | OTOG | c.8413A= (p.Ile2805=) c.8377A= (p.Ile2793=) | |
| 11 | g.17642208A>C | CA379787222 | OTOG | c.8413A>C (p.Ile2805Leu) c.8377A>C (p.Ile2793Leu) | |
| 11 | g.17642208A>G | CA218456863 | OTOG | c.8413A>G (p.Ile2805Val) c.8377A>G (p.Ile2793Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642208A>T | CA379787243 | OTOG | c.8413A>T (p.Ile2805Leu) c.8377A>T (p.Ile2793Leu) | |
| 11 | g.17642209T>A | CA379787261 | OTOG | c.8414T>A (p.Ile2805Lys) c.8378T>A (p.Ile2793Lys) | |
| 11 | g.17642209T>C | CA379787262 | OTOG | c.8414T>C (p.Ile2805Thr) c.8378T>C (p.Ile2793Thr) | |
| 11 | g.17642209T>G | CA379787263 | OTOG | c.8414T>G (p.Ile2805Arg) c.8378T>G (p.Ile2793Arg) | |
| 11 | g.17642210A>C | CA473300206 | OTOG | c.8415A>C (p.Ile2805=) c.8379A>C (p.Ile2793=) | |
| 11 | g.17642210A>G | CA379787266 | OTOG | c.8415A>G (p.Ile2805Met) c.8379A>G (p.Ile2793Met) | |
| 11 | g.17642210A>T | CA473300207 | OTOG | c.8415A>T (p.Ile2805=) c.8379A>T (p.Ile2793=) | |
| 11 | g.17642211A= | CA1955240458 | OTOG | c.8416A= (p.Ser2806=) c.8380A= (p.Ser2794=) | |
| 11 | g.17642211A>C | CA379787272 | OTOG | c.8416A>C (p.Ser2806Arg) c.8380A>C (p.Ser2794Arg) | |
| 11 | g.17642211A>G | CA379787274 | OTOG | c.8416A>G (p.Ser2806Gly) c.8380A>G (p.Ser2794Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642211A>T | CA379787281 | OTOG | c.8416A>T (p.Ser2806Cys) c.8380A>T (p.Ser2794Cys) | |
| 11 | g.17642212G>A | CA379787298 | OTOG | c.8417G>A (p.Ser2806Asn) c.8381G>A (p.Ser2794Asn) | |
| 11 | g.17642212G>C | CA379787296 | OTOG | c.8417G>C (p.Ser2806Thr) c.8381G>C (p.Ser2794Thr) | |
| 11 | g.17642212G>T | CA379787294 | OTOG | c.8417G>T (p.Ser2806Ile) c.8381G>T (p.Ser2794Ile) | |
| 11 | g.17642213C>A | CA379787299 | OTOG | c.8418C>A (p.Ser2806Arg) c.8382C>A (p.Ser2794Arg) | |
| 11 | g.17642213C>G | CA379787302 | OTOG | c.8418C>G (p.Ser2806Arg) c.8382C>G (p.Ser2794Arg) | |
| 11 | g.17642213C>T | CA473300208 | OTOG | c.8418C>T (p.Ser2806=) c.8382C>T (p.Ser2794=) | |
| 11 | g.17642214T>A | CA379787306 | OTOG | c.8419T>A (p.Cys2807Ser) c.8383T>A (p.Cys2795Ser) | |
| 11 | g.17642214T>C | CA379787308 | OTOG | c.8419T>C (p.Cys2807Arg) c.8383T>C (p.Cys2795Arg) | |
| 11 | g.17642214T>G | CA379787310 | OTOG | c.8419T>G (p.Cys2807Gly) c.8383T>G (p.Cys2795Gly) | |
| 11 | g.17642215G>A | CA379787318 | OTOG | c.8420G>A (p.Cys2807Tyr) c.8384G>A (p.Cys2795Tyr) | |
| 11 | g.17642215G>C | CA379787326 | OTOG | c.8420G>C (p.Cys2807Ser) c.8384G>C (p.Cys2795Ser) | |
| 11 | g.17642215G>T | CA379787345 | OTOG | c.8420G>T (p.Cys2807Phe) c.8384G>T (p.Cys2795Phe) | gnomAD v4 |
| 11 | g.17642216C>A | CA379787346 | OTOG | c.8421C>A (p.Cys2807Ter) c.8385C>A (p.Cys2795Ter) | |
| 11 | g.17642216C= | CA1955240459 | OTOG | c.8421C= (p.Cys2807=) c.8385C= (p.Cys2795=) | |
| 11 | g.17642216C>G | CA379787351 | OTOG | c.8421C>G (p.Cys2807Trp) c.8385C>G (p.Cys2795Trp) | gnomAD v4 |
| 11 | g.17642216C>T | CA473300209 | OTOG | c.8421C>T (p.Cys2807=) c.8385C>T (p.Cys2795=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642217C>A | CA379787363 | OTOG | c.8422C>A (p.Pro2808Thr) c.8386C>A (p.Pro2796Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642217C= | CA1955240460 | OTOG | c.8422C= (p.Pro2808=) c.8386C= (p.Pro2796=) | |
| 11 | g.17642217C>G | CA379787374 | OTOG | c.8422C>G (p.Pro2808Ala) c.8386C>G (p.Pro2796Ala) | gnomAD v4 |
| 11 | g.17642217C>T | CA379787376 | OTOG | c.8422C>T (p.Pro2808Ser) c.8386C>T (p.Pro2796Ser) | |
| 11 | g.17642218C>A | CA218456864 | OTOG | c.8423C>A (p.Pro2808Gln) c.8387C>A (p.Pro2796Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642218C= | CA1955240461 | OTOG | c.8423C= (p.Pro2808=) c.8387C= (p.Pro2796=) | |
| 11 | g.17642218C>G | CA379788217 | OTOG | c.8423C>G (p.Pro2808Arg) c.8387C>G (p.Pro2796Arg) | |
| 11 | g.17642218C>T | CA379788222 | OTOG | c.8423C>T (p.Pro2808Leu) c.8387C>T (p.Pro2796Leu) | |
| 11 | g.17642219A>C | CA473300317 | OTOG | c.8424A>C (p.Pro2808=) c.8388A>C (p.Pro2796=) | |
| 11 | g.17642219A>G | CA473300319 | OTOG | c.8424A>G (p.Pro2808=) c.8388A>G (p.Pro2796=) | |
| 11 | g.17642219A>T | CA473300320 | OTOG | c.8424A>T (p.Pro2808=) c.8388A>T (p.Pro2796=) | gnomAD v4 |
| 11 | g.17642220C>A | CA379788237 | OTOG | c.8425C>A (p.Pro2809Thr) c.8389C>A (p.Pro2797Thr) | |
| 11 | g.17642220C= | CA1955240462 | OTOG | c.8425C= (p.Pro2809=) c.8389C= (p.Pro2797=) | |
| 11 | g.17642220C>G | CA379788239 | OTOG | c.8425C>G (p.Pro2809Ala) c.8389C>G (p.Pro2797Ala) | |
| 11 | g.17642220C>T | CA379788245 | OTOG | c.8425C>T (p.Pro2809Ser) c.8389C>T (p.Pro2797Ser) | dbSNP gnomAD v4 |
| 11 | g.17642221C>A | CA379788253 | OTOG | c.8426C>A (p.Pro2809Gln) c.8390C>A (p.Pro2797Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642221C= | CA1955240463 | OTOG | c.8426C= (p.Pro2809=) c.8390C= (p.Pro2797=) | |
| 11 | g.17642221C>G | CA379788255 | OTOG | c.8426C>G (p.Pro2809Arg) c.8390C>G (p.Pro2797Arg) | |
| 11 | g.17642221C>T | CA379788257 | OTOG | c.8426C>T (p.Pro2809Leu) c.8390C>T (p.Pro2797Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17642222G>A | CA473300324 | OTOG | c.8427G>A (p.Pro2809=) c.8391G>A (p.Pro2797=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642222G>C | CA473300322 | OTOG | c.8427G>C (p.Pro2809=) c.8391G>C (p.Pro2797=) | |
| 11 | g.17642222G= | CA1955240464 | OTOG | c.8427G= (p.Pro2809=) c.8391G= (p.Pro2797=) | |
| 11 | g.17642222G>T | CA473300323 | OTOG | c.8427G>T (p.Pro2809=) c.8391G>T (p.Pro2797=) | gnomAD v4 |
| 11 | g.17642223C>A | CA379788261 | OTOG | c.8428C>A (p.Leu2810Ile) c.8392C>A (p.Leu2798Ile) | |
| 11 | g.17642223C>G | CA379788262 | OTOG | c.8428C>G (p.Leu2810Val) c.8392C>G (p.Leu2798Val) | |
| 11 | g.17642223C>T | CA379788267 | OTOG | c.8428C>T (p.Leu2810Phe) c.8392C>T (p.Leu2798Phe) | |
| 11 | g.17642224T>A | CA379788272 | OTOG | c.8429T>A (p.Leu2810His) c.8393T>A (p.Leu2798His) | |
| 11 | g.17642224T>C | CA379788277 | OTOG | c.8429T>C (p.Leu2810Pro) c.8393T>C (p.Leu2798Pro) | |
| 11 | g.17642224T>G | CA379788282 | OTOG | c.8429T>G (p.Leu2810Arg) c.8393T>G (p.Leu2798Arg) | |
| 11 | g.17642225C>A | CA473300328 | OTOG | c.8430C>A (p.Leu2810=) c.8394C>A (p.Leu2798=) | gnomAD v4 |
| 11 | g.17642225C>G | CA473300329 | OTOG | c.8430C>G (p.Leu2810=) c.8394C>G (p.Leu2798=) | |
| 11 | g.17642225C>T | CA473300330 | OTOG | c.8430C>T (p.Leu2810=) c.8394C>T (p.Leu2798=) | |
| 11 | g.17642226A>C | CA379788287 | OTOG | c.8431A>C (p.Asn2811His) c.8395A>C (p.Asn2799His) | |
| 11 | g.17642226A>G | CA379788304 | OTOG | c.8431A>G (p.Asn2811Asp) c.8395A>G (p.Asn2799Asp) | gnomAD v4 |
| 11 | g.17642226A>T | CA379788285 | OTOG | c.8431A>T (p.Asn2811Tyr) c.8395A>T (p.Asn2799Tyr) | |
| 11 | g.17642227A= | CA1955240465 | OTOG | c.8432A= (p.Asn2811=) c.8396A= (p.Asn2799=) | |
| 11 | g.17642227A>C | CA379788313 | OTOG | c.8432A>C (p.Asn2811Thr) c.8396A>C (p.Asn2799Thr) | |
| 11 | g.17642227A>G | CA379788312 | OTOG | c.8432A>G (p.Asn2811Ser) c.8396A>G (p.Asn2799Ser) | dbSNP gnomAD v4 |
| 11 | g.17642227A>T | CA379788314 | OTOG | c.8432A>T (p.Asn2811Ile) c.8396A>T (p.Asn2799Ile) | |
| 11 | g.17642228T>A | CA379788316 | OTOG | c.8433T>A (p.Asn2811Lys) c.8397T>A (p.Asn2799Lys) | |
| 11 | g.17642228T>C | CA473300335 | OTOG | c.8433T>C (p.Asn2811=) c.8397T>C (p.Asn2799=) | |
| 11 | g.17642228T>G | CA379788320 | OTOG | c.8433T>G (p.Asn2811Lys) c.8397T>G (p.Asn2799Lys) | gnomAD v4 |
| 11 | g.17642229G>A | CA379788321 | OTOG | c.8434G>A (p.Glu2812Lys) c.8398G>A (p.Glu2800Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642229G>C | CA379788322 | OTOG | c.8434G>C (p.Glu2812Gln) c.8398G>C (p.Glu2800Gln) | |
| 11 | g.17642229G= | CA1955240466 | OTOG | c.8434G= (p.Glu2812=) c.8398G= (p.Glu2800=) | |
| 11 | g.17642229G>T | CA379788323 | OTOG | c.8434G>T (p.Glu2812Ter) c.8398G>T (p.Glu2800Ter) | |
| 11 | g.17642230A= | CA1955240467 | OTOG | c.8435A= (p.Glu2812=) c.8399A= (p.Glu2800=) | |
| 11 | g.17642230A>C | CA379788326 | OTOG | c.8435A>C (p.Glu2812Ala) c.8399A>C (p.Glu2800Ala) | |
| 11 | g.17642230A>G | CA379788334 | OTOG | c.8435A>G (p.Glu2812Gly) c.8399A>G (p.Glu2800Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642230A>T | CA379788336 | OTOG | c.8435A>T (p.Glu2812Val) c.8399A>T (p.Glu2800Val) | |
| 11 | g.17642231G>A | CA473300342 | OTOG | c.8436G>A (p.Glu2812=) c.8400G>A (p.Glu2800=) | gnomAD v4 |
| 11 | g.17642231G>C | CA379788346 | OTOG | c.8436G>C (p.Glu2812Asp) c.8400G>C (p.Glu2800Asp) | |
| 11 | g.17642231G= | CA1955240468 | OTOG | c.8436G= (p.Glu2812=) c.8400G= (p.Glu2800=) | |
| 11 | g.17642231G>T | CA379788342 | OTOG | c.8436G>T (p.Glu2812Asp) c.8400G>T (p.Glu2800Asp) | dbSNP |
| 11 | g.17642232A>C | CA379788352 | OTOG | c.8437A>C (p.Thr2813Pro) c.8401A>C (p.Thr2801Pro) | |
| 11 | g.17642232A>G | CA379788353 | OTOG | c.8437A>G (p.Thr2813Ala) c.8401A>G (p.Thr2801Ala) | |
| 11 | g.17642232A>T | CA379788358 | OTOG | c.8437A>T (p.Thr2813Ser) c.8401A>T (p.Thr2801Ser) | |
| 11 | g.17642233C>A | CA379788362 | OTOG | c.8438C>A (p.Thr2813Asn) c.8402C>A (p.Thr2801Asn) | gnomAD v4 |
| 11 | g.17642233C>G | CA379788364 | OTOG | c.8438C>G (p.Thr2813Ser) c.8402C>G (p.Thr2801Ser) | gnomAD v4 |
| 11 | g.17642233C>T | CA379788367 | OTOG | c.8438C>T (p.Thr2813Ile) c.8402C>T (p.Thr2801Ile) | |
| 11 | g.17642234T>A | CA473300345 | OTOG | c.8439T>A (p.Thr2813=) c.8403T>A (p.Thr2801=) | gnomAD v4 |
| 11 | g.17642234T>C | CA473300346 | OTOG | c.8439T>C (p.Thr2813=) c.8403T>C (p.Thr2801=) | gnomAD v4 |
| 11 | g.17642234T>G | CA473300347 | OTOG | c.8439T>G (p.Thr2813=) c.8403T>G (p.Thr2801=) | |
| 11 | g.17642235G>A | CA379788370 | OTOG | c.8440G>A (p.Glu2814Lys) c.8404G>A (p.Glu2802Lys) | |
| 11 | g.17642235G>C | CA379788368 | OTOG | c.8440G>C (p.Glu2814Gln) c.8404G>C (p.Glu2802Gln) | gnomAD v4 |
| 11 | g.17642235G>T | CA379788369 | OTOG | c.8440G>T (p.Glu2814Ter) c.8404G>T (p.Glu2802Ter) | |
| 11 | g.17642236A>C | CA379788372 | OTOG | c.8441A>C (p.Glu2814Ala) c.8405A>C (p.Glu2802Ala) | |
| 11 | g.17642236A>G | CA379788373 | OTOG | c.8441A>G (p.Glu2814Gly) c.8405A>G (p.Glu2802Gly) | gnomAD v4 |
| 11 | g.17642236A>T | CA379788375 | OTOG | c.8441A>T (p.Glu2814Val) c.8405A>T (p.Glu2802Val) | |
| 11 | g.17642237G>A | CA473300351 | OTOG | c.8442G>A (p.Glu2814=) c.8406G>A (p.Glu2802=) | dbSNP |
| 11 | g.17642237G>C | CA379788396 | OTOG | c.8442G>C (p.Glu2814Asp) c.8406G>C (p.Glu2802Asp) | gnomAD v4 |
| 11 | g.17642237G= | CA1955240469 | OTOG | c.8442G= (p.Glu2814=) c.8406G= (p.Glu2802=) | |
| 11 | g.17642237G>T | CA379788405 | OTOG | c.8442G>T (p.Glu2814Asp) c.8406G>T (p.Glu2802Asp) | dbSNP gnomAD v4 |
| 11 | g.17642238T>A | CA379788410 | OTOG | c.8443T>A (p.Cys2815Ser) c.8407T>A (p.Cys2803Ser) | |
| 11 | g.17642238T>C | CA379788413 | OTOG | c.8443T>C (p.Cys2815Arg) c.8407T>C (p.Cys2803Arg) | |
| 11 | g.17642238T>G | CA379788419 | OTOG | c.8443T>G (p.Cys2815Gly) c.8407T>G (p.Cys2803Gly) | |
| 11 | g.17642239G>A | CA379788426 | OTOG | c.8444G>A (p.Cys2815Tyr) c.8408G>A (p.Cys2803Tyr) | dbSNP |
| 11 | g.17642239G>C | CA379788433 | OTOG | c.8444G>C (p.Cys2815Ser) c.8408G>C (p.Cys2803Ser) | |
| 11 | g.17642239G= | CA1955240470 | OTOG | c.8444G= (p.Cys2815=) c.8408G= (p.Cys2803=) | |
| 11 | g.17642239G>T | CA379788435 | OTOG | c.8444G>T (p.Cys2815Phe) c.8408G>T (p.Cys2803Phe) | |
| 11 | g.17642240T>A | CA379788437 | OTOG | c.8445T>A (p.Cys2815Ter) c.8409T>A (p.Cys2803Ter) | |
| 11 | g.17642240T>C | CA473300354 | OTOG | c.8445T>C (p.Cys2815=) c.8409T>C (p.Cys2803=) | |
| 11 | g.17642240T>G | CA379788441 | OTOG | c.8445T>G (p.Cys2815Trp) c.8409T>G (p.Cys2803Trp) | |
| 11 | g.17642241G>A | CA379788470 | OTOG | c.8446G>A (p.Ala2816Thr) c.8410G>A (p.Ala2804Thr) | |
| 11 | g.17642241G>C | CA379788473 | OTOG | c.8446G>C (p.Ala2816Pro) c.8410G>C (p.Ala2804Pro) | |
| 11 | g.17642241G>T | CA379788471 | OTOG | c.8446G>T (p.Ala2816Ser) c.8410G>T (p.Ala2804Ser) | |
| 11 | g.17642242C>A | CA379788477 | OTOG | c.8447C>A (p.Ala2816Asp) c.8411C>A (p.Ala2804Asp) | gnomAD v4 |
| 11 | g.17642242C= | CA1955240471 | OTOG | c.8447C= (p.Ala2816=) c.8411C= (p.Ala2804=) | |
| 11 | g.17642242C>G | CA379788479 | OTOG | c.8447C>G (p.Ala2816Gly) c.8411C>G (p.Ala2804Gly) | gnomAD v4 |
| 11 | g.17642242C>T | CA379788484 | OTOG | c.8447C>T (p.Ala2816Val) c.8411C>T (p.Ala2804Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642243C>A | CA473300363 | OTOG | c.8448C>A (p.Ala2816=) c.8412C>A (p.Ala2804=) | |
| 11 | g.17642243C= | CA1955240472 | OTOG | c.8448C= (p.Ala2816=) c.8412C= (p.Ala2804=) | |
| 11 | g.17642243C>G | CA473300360 | OTOG | c.8448C>G (p.Ala2816=) c.8412C>G (p.Ala2804=) | |
| 11 | g.17642243C>T | CA473300359 | OTOG | c.8448C>T (p.Ala2816=) c.8412C>T (p.Ala2804=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642244A>C | CA379788506 | OTOG | c.8449A>C (p.Lys2817Gln) c.8413A>C (p.Lys2805Gln) | |
| 11 | g.17642244A>G | CA379788511 | OTOG | c.8449A>G (p.Lys2817Glu) c.8413A>G (p.Lys2805Glu) | |
| 11 | g.17642244A>T | CA379788512 | OTOG | c.8449A>T (p.Lys2817Ter) c.8413A>T (p.Lys2805Ter) | |
| 11 | g.17642245A>C | CA379788514 | OTOG | c.8450A>C (p.Lys2817Thr) c.8414A>C (p.Lys2805Thr) | |
| 11 | g.17642245A>G | CA379788518 | OTOG | c.8450A>G (p.Lys2817Arg) c.8414A>G (p.Lys2805Arg) | |
| 11 | g.17642245A>T | CA379788547 | OTOG | c.8450A>T (p.Lys2817Met) c.8414A>T (p.Lys2805Met) | |
| 11 | g.17642246G>A | CA473300368 | OTOG | c.8451G>A (p.Lys2817=) c.8415G>A (p.Lys2805=) | dbSNP gnomAD v2 |
| 11 | g.17642246G>C | CA379788549 | OTOG | c.8451G>C (p.Lys2817Asn) c.8415G>C (p.Lys2805Asn) | |
| 11 | g.17642246G= | CA1955240473 | OTOG | c.8451G= (p.Lys2817=) c.8415G= (p.Lys2805=) | |
| 11 | g.17642246G>T | CA379788550 | OTOG | c.8451G>T (p.Lys2817Asn) c.8415G>T (p.Lys2805Asn) | |
| 11 | g.17642247G>A | CA218456865 | OTOG | c.8451+1G>A (n.8451+1G>A) c.8415+1G>A (n.8415+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642247G>C | CA379788559 | OTOG | c.8451+1G>C (n.8451+1G>C) c.8415+1G>C (n.8415+1G>C) | |
| 11 | g.17642247G= | CA1955240474 | OTOG | c.8451+1G= (n.8451+1G=) c.8415+1G= (n.8415+1G=) | |
| 11 | g.17642247G>T | CA5906283 | OTOG | c.8451+1G>T (n.8451+1G>T) c.8415+1G>T (n.8415+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17642248T>A | CA379788563 | OTOG | c.8451+2T>A (n.8451+2T>A) c.8415+2T>A (n.8415+2T>A) | |
| 11 | g.17642248T>C | CA379788567 | OTOG | c.8451+2T>C (n.8451+2T>C) c.8415+2T>C (n.8415+2T>C) | gnomAD v4 |
| 11 | g.17642248T>G | CA379788569 | OTOG | c.8451+2T>G (n.8451+2T>G) c.8415+2T>G (n.8415+2T>G) | |
| 11 | g.17642249C= | CA1955240475 | OTOG | c.8451+3C= (n.8451+3C=) c.8415+3C= (n.8415+3C=) | |
| 11 | g.17642249C>T | CA674261324 | OTOG | c.8451+3C>T (n.8451+3C>T) c.8415+3C>T (n.8415+3C>T) | dbSNP |
| 11 | g.17642250A>G | CA2612690868 | OTOG | c.8451+4A>G (n.8451+4A>G) c.8415+4A>G (n.8415+4A>G) | gnomAD v4 |
| 11 | g.17642251del | CA2612690870 | OTOG | c.8451+5del (n.8451+5del) c.8415+5del (n.8415+5del) | gnomAD v4 |
| 11 | g.17642251G>T | CA2612690873 | OTOG | c.8451+5G>T (n.8451+5G>T) c.8415+5G>T (n.8415+5G>T) | gnomAD v4 |
| 11 | g.17642252T>A | CA2612690875 | OTOG | c.8451+6T>A (n.8451+6T>A) c.8415+6T>A (n.8415+6T>A) | gnomAD v4 |
| 11 | g.17642252T>C | CA1955240477 | OTOG | c.8451+6T>C (n.8451+6T>C) c.8415+6T>C (n.8415+6T>C) | dbSNP |
| 11 | g.17642252T= | CA1955240476 | OTOG | c.8451+6T= (n.8451+6T=) c.8415+6T= (n.8415+6T=) | |
| 11 | g.17642253G>C | CA935549072 | OTOG | c.8451+7G>C (n.8451+7G>C) c.8415+7G>C (n.8415+7G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642253G= | CA1955240478 | OTOG | c.8451+7G= (n.8451+7G=) c.8415+7G= (n.8415+7G=) | |
| 11 | g.17642253G>T | CA674261325 | OTOG | c.8451+7G>T (n.8451+7G>T) c.8415+7G>T (n.8415+7G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642254C= | CA1955240481 | OTOG | c.8451+8C= (n.8451+8C=) c.8415+8C= (n.8415+8C=) | |
| 11 | g.17642254C>G | CA1955240479 | OTOG | c.8451+8C>G (n.8451+8C>G) c.8415+8C>G (n.8415+8C>G) | dbSNP |
| 11 | g.17642254C>T | CA1955240480 | OTOG | c.8451+8C>T (n.8451+8C>T) c.8415+8C>T (n.8415+8C>T) | dbSNP gnomAD v4 |
| 11 | g.17642255C>A | CA2612690877 | OTOG | c.8451+9C>A (n.8451+9C>A) c.8415+9C>A (n.8415+9C>A) | gnomAD v4 |
| 11 | g.17642256T>C | CA2612690879 | OTOG | c.8451+10T>C (n.8451+10T>C) c.8415+10T>C (n.8415+10T>C) | gnomAD v4 |
| 11 | g.17642257C>A | CA2612690880 | OTOG | c.8451+11C>A (n.8451+11C>A) c.8415+11C>A (n.8415+11C>A) | gnomAD v4 |
| 11 | g.17642257C>G | CA2612690881 | OTOG | c.8451+11C>G (n.8451+11C>G) c.8415+11C>G (n.8415+11C>G) | gnomAD v4 |
| 11 | g.17642257_17642260delinsCCTT | CA1955240482 | OTOG | c.8451+11_8451+14delinsCCTT (n.8451+11_8451+14delinsCCTT) c.8415+11_8415+14delinsCCTT (n.8415+11_8415+14delinsCCTT) | |
| 11 | g.17642258C>A | CA2612690884 | OTOG | c.8451+12C>A (n.8451+12C>A) c.8415+12C>A (n.8415+12C>A) | gnomAD v4 |
| 11 | g.17642258C= | CA1955240483 | OTOG | c.8451+12C= (n.8451+12C=) c.8415+12C= (n.8415+12C=) | |
| 11 | g.17642258C>T | CA218456868 | OTOG | c.8451+12C>T (n.8451+12C>T) c.8415+12C>T (n.8415+12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642260_17642262del | CA674261340 | OTOG | c.8451+14_8451+16del (n.8451+14_8451+16del) c.8415+14_8415+16del (n.8415+14_8415+16del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.17642259T>A | CA2612690887 | OTOG | c.8451+13T>A (n.8451+13T>A) c.8415+13T>A (n.8415+13T>A) | gnomAD v4 |
| 11 | g.17642259T>G | CA2790598664 | OTOG | c.8451+13T>G (n.8451+13T>G) c.8415+13T>G (n.8415+13T>G) | |
| 11 | g.17642260T>C | CA674261347 | OTOG | c.8451+14T>C (n.8451+14T>C) c.8415+14T>C (n.8415+14T>C) | dbSNP |
| 11 | g.17642260T= | CA1955240484 | OTOG | c.8451+14T= (n.8451+14T=) c.8415+14T= (n.8415+14T=) | |
| 11 | g.17642261C>T | CA2612690889 | OTOG | c.8451+15C>T (n.8451+15C>T) c.8415+15C>T (n.8415+15C>T) | gnomAD v4 |
| 11 | g.17642263C= | CA1955240485 | OTOG | c.8451+17C= (n.8451+17C=) c.8415+17C= (n.8415+17C=) | |
| 11 | g.17642263C>T | CA1955240486 | OTOG | c.8451+17C>T (n.8451+17C>T) c.8415+17C>T (n.8415+17C>T) | dbSNP gnomAD v4 |
| 11 | g.17642264C>A | CA2612690894 | OTOG | c.8451+18C>A (n.8451+18C>A) c.8415+18C>A (n.8415+18C>A) | gnomAD v4 |
| 11 | g.17642264C>T | CA2612690896 | OTOG | c.8451+18C>T (n.8451+18C>T) c.8415+18C>T (n.8415+18C>T) | gnomAD v4 |
| 11 | g.17642265A>G | CA2612690897 | OTOG | c.8451+19A>G (n.8451+19A>G) c.8415+19A>G (n.8415+19A>G) | gnomAD v4 |
| 11 | g.17642266C>A | CA597677755 | OTOG | c.8451+20C>A (n.8451+20C>A) c.8415+20C>A (n.8415+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642266C= | CA1955240487 | OTOG | c.8451+20C= (n.8451+20C=) c.8415+20C= (n.8415+20C=) | |
| 11 | g.17642266C>T | CA597677756 | OTOG | c.8451+20C>T (n.8451+20C>T) c.8415+20C>T (n.8415+20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642267T>C | CA2612690904 | OTOG | c.8451+21T>C (n.8451+21T>C) c.8415+21T>C (n.8415+21T>C) | gnomAD v4 |
| 11 | g.17642268G>A | CA218456870 | OTOG | c.8451+22G>A (n.8451+22G>A) c.8415+22G>A (n.8415+22G>A) | dbSNP gnomAD v4 |
| 11 | g.17642268G= | CA1955240488 | OTOG | c.8451+22G= (n.8451+22G=) c.8415+22G= (n.8415+22G=) | |
| 11 | g.17642269A= | CA1955240489 | OTOG | c.8451+23A= (n.8451+23A=) c.8415+23A= (n.8415+23A=) | |
| 11 | g.17642269A>G | CA597677757 | OTOG | c.8451+23A>G (n.8451+23A>G) c.8415+23A>G (n.8415+23A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642270G>A | CA2574771453 | OTOG | c.8451+24G>A (n.8451+24G>A) c.8415+24G>A (n.8415+24G>A) | |
| 11 | g.17642271G>A | CA2504764959 | OTOG | c.8451+25G>A (n.8451+25G>A) c.8415+25G>A (n.8415+25G>A) | gnomAD v4 |
| 11 | g.17642271G>T | CA2612690911 | OTOG | c.8451+25G>T (n.8451+25G>T) c.8415+25G>T (n.8415+25G>T) | gnomAD v4 |
| 11 | g.17642272C>A | CA2612690913 | OTOG | c.8451+26C>A (n.8451+26C>A) c.8415+26C>A (n.8415+26C>A) | gnomAD v4 |
| 11 | g.17642272C= | CA1955240490 | OTOG | c.8451+26C= (n.8451+26C=) c.8415+26C= (n.8415+26C=) | |
| 11 | g.17642272C>T | CA597677758 | OTOG | c.8451+26C>T (n.8451+26C>T) c.8415+26C>T (n.8415+26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642273T>C | CA2612690915 | OTOG | c.8451+27T>C (n.8451+27T>C) c.8415+27T>C (n.8415+27T>C) | gnomAD v4 |
| 11 | g.17642274G>A | CA2612690916 | OTOG | c.8451+28G>A (n.8451+28G>A) c.8415+28G>A (n.8415+28G>A) | gnomAD v4 |
| 11 | g.17642274G>T | CA2612690917 | OTOG | c.8451+28G>T (n.8451+28G>T) c.8415+28G>T (n.8415+28G>T) | gnomAD v4 |
| 11 | g.17642276A>G | CA2612690918 | OTOG | c.8451+30A>G (n.8451+30A>G) c.8415+30A>G (n.8415+30A>G) | gnomAD v4 |
| 11 | g.17642277G>A | CA218456874 | OTOG | c.8451+31G>A (n.8451+31G>A) c.8415+31G>A (n.8415+31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642277G= | CA1955240491 | OTOG | c.8451+31G= (n.8451+31G=) c.8415+31G= (n.8415+31G=) | |
| 11 | g.17642278G>A | CA2612690920 | OTOG | c.8451+32G>A (n.8451+32G>A) c.8415+32G>A (n.8415+32G>A) | gnomAD v4 |
| 11 | g.17642279C>A | CA2612690921 | OTOG | c.8451+33C>A (n.8451+33C>A) c.8415+33C>A (n.8415+33C>A) | gnomAD v4 |
| 11 | g.17642279C>T | CA2612690922 | OTOG | c.8451+33C>T (n.8451+33C>T) c.8415+33C>T (n.8415+33C>T) | gnomAD v4 |
| 11 | g.17642280C>A | CA2612690927 | OTOG | c.8451+34C>A (n.8451+34C>A) c.8415+34C>A (n.8415+34C>A) | gnomAD v4 |
| 11 | g.17642280C= | CA1955240492 | OTOG | c.8451+34C= (n.8451+34C=) c.8415+34C= (n.8415+34C=) | |
| 11 | g.17642280C>T | CA218456878 | OTOG | c.8451+34C>T (n.8451+34C>T) c.8415+34C>T (n.8415+34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642280_17642281delinsCA | CA1955240493 | OTOG | c.8451+34_8451+35delinsCA (n.8451+34_8451+35delinsCA) c.8415+34_8415+35delinsCA (n.8415+34_8415+35delinsCA) | |
| 11 | g.17642281del | CA674261359 | OTOG | c.8451+35del (n.8451+35del) c.8415+35del (n.8415+35del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642281A= | CA1955240494 | OTOG | c.8451+35A= (n.8451+35A=) c.8415+35A= (n.8415+35A=) | |
| 11 | g.17642282G>A | CA674261369 | OTOG | c.8451+36G>A (n.8451+36G>A) c.8415+36G>A (n.8415+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642282G= | CA1955240495 | OTOG | c.8451+36G= (n.8451+36G=) c.8415+36G= (n.8415+36G=) | |
| 11 | g.17642282G>T | CA2612690939 | OTOG | c.8451+36G>T (n.8451+36G>T) c.8415+36G>T (n.8415+36G>T) | gnomAD v4 |
| 11 | g.17642284_17642285dup | CA597677759 | OTOG | c.8451+38_8451+39dup (n.8451+38_8451+39dup) c.8415+38_8415+39dup (n.8415+38_8415+39dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642285del | CA2612690937 | OTOG | c.8451+39del (n.8451+39del) c.8415+39del (n.8415+39del) | gnomAD v4 |
| 11 | g.17642283G>A | CA5906284 | OTOG | c.8451+37G>A (n.8451+37G>A) c.8415+37G>A (n.8415+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642283G= | CA1955240496 | OTOG | c.8451+37G= (n.8451+37G=) c.8415+37G= (n.8415+37G=) | |
| 11 | g.17642283G>T | CA2612690944 | OTOG | c.8451+37G>T (n.8451+37G>T) c.8415+37G>T (n.8415+37G>T) | gnomAD v4 |
| 11 | g.17642284G>A | CA2612690947 | OTOG | c.8451+38G>A (n.8451+38G>A) c.8415+38G>A (n.8415+38G>A) | gnomAD v4 |
| 11 | g.17642284G>T | CA2612690948 | OTOG | c.8451+38G>T (n.8451+38G>T) c.8415+38G>T (n.8415+38G>T) | gnomAD v4 |
| 11 | g.17642285G>A | CA1955240498 | OTOG | c.8451+39G>A (n.8451+39G>A) c.8415+39G>A (n.8415+39G>A) | dbSNP gnomAD v4 |
| 11 | g.17642285G= | CA1955240497 | OTOG | c.8451+39G= (n.8451+39G=) c.8415+39G= (n.8415+39G=) | |
| 11 | g.17642285G>T | CA2612690950 | OTOG | c.8451+39G>T (n.8451+39G>T) c.8415+39G>T (n.8415+39G>T) | gnomAD v4 |
| 11 | g.17642286C>A | CA2612690952 | OTOG | c.8451+40C>A (n.8451+40C>A) c.8415+40C>A (n.8415+40C>A) | gnomAD v4 |
| 11 | g.17642286C>T | CA2612690953 | OTOG | c.8451+40C>T (n.8451+40C>T) c.8415+40C>T (n.8415+40C>T) | gnomAD v4 |
| 11 | g.17642287A>G | CA2612690954 | OTOG | c.8451+41A>G (n.8451+41A>G) c.8415+41A>G (n.8415+41A>G) | gnomAD v4 |
| 11 | g.17642289C>A | CA2612690955 | OTOG | c.8451+43C>A (n.8451+43C>A) c.8415+43C>A (n.8415+43C>A) | gnomAD v4 |
| 11 | g.17642289C>T | CA2574771454 | OTOG | c.8451+43C>T (n.8451+43C>T) c.8415+43C>T (n.8415+43C>T) | gnomAD v4 |
| 11 | g.17642290A= | CA1955240499 | OTOG | c.8451+44A= (n.8451+44A=) c.8415+44A= (n.8415+44A=) | |
| 11 | g.17642290A>G | CA218456884 | OTOG | c.8451+44A>G (n.8451+44A>G) c.8415+44A>G (n.8415+44A>G) | dbSNP gnomAD v4 |
| 11 | g.17642291G>A | CA2612690957 | OTOG | c.8451+45G>A (n.8451+45G>A) c.8415+45G>A (n.8415+45G>A) | gnomAD v4 |
| 11 | g.17642291G>T | CA2612690958 | OTOG | c.8451+45G>T (n.8451+45G>T) c.8415+45G>T (n.8415+45G>T) | gnomAD v4 |
| 11 | g.17642292C>A | CA2612690960 | OTOG | c.8451+46C>A (n.8451+46C>A) c.8415+46C>A (n.8415+46C>A) | gnomAD v4 |
| 11 | g.17642293T>C | CA2612690962 | OTOG | c.8451+47T>C (n.8451+47T>C) c.8415+47T>C (n.8415+47T>C) | gnomAD v4 |
| 11 | g.17642294_17642295del | CA2612690961 | OTOG | c.8451+48_8451+49del (n.8451+48_8451+49del) c.8415+48_8415+49del (n.8415+48_8415+49del) | gnomAD v4 |
| 11 | g.17642294G>A | CA2612690963 | OTOG | c.8451+48G>A (n.8451+48G>A) c.8415+48G>A (n.8415+48G>A) | gnomAD v4 |
| 11 | g.17642294G>C | CA2612690964 | OTOG | c.8451+48G>C (n.8451+48G>C) c.8415+48G>C (n.8415+48G>C) | gnomAD v4 |
| 11 | g.17642294G>T | CA2612690965 | OTOG | c.8451+48G>T (n.8451+48G>T) c.8415+48G>T (n.8415+48G>T) | gnomAD v4 |
| 11 | g.17642296C>A | CA2612690966 | OTOG | c.8451+50C>A (n.8451+50C>A) c.8415+50C>A (n.8415+50C>A) | gnomAD v4 |
| 11 | g.17642296C>T | CA2574771455 | OTOG | c.8451+50C>T (n.8451+50C>T) c.8415+50C>T (n.8415+50C>T) | gnomAD v4 |
| 11 | g.17642297T>A | CA2574771456 | OTOG | c.8451+51T>A (n.8451+51T>A) c.8415+51T>A (n.8415+51T>A) | |
| 11 | g.17642297T>C | CA2612690967 | OTOG | c.8451+51T>C (n.8451+51T>C) c.8415+51T>C (n.8415+51T>C) | gnomAD v4 |
| 11 | g.17642298C>A | CA2612690969 | OTOG | c.8451+52C>A (n.8451+52C>A) c.8415+52C>A (n.8415+52C>A) | gnomAD v4 |
| 11 | g.17642298C>T | CA2574771457 | OTOG | c.8451+52C>T (n.8451+52C>T) c.8415+52C>T (n.8415+52C>T) | gnomAD v4 |
| 11 | g.17642300C>A | CA2790598665 | OTOG | c.8451+54C>A (n.8451+54C>A) c.8415+54C>A (n.8415+54C>A) | |
| 11 | g.17642300C= | CA1955240500 | OTOG | c.8451+54C= (n.8451+54C=) c.8415+54C= (n.8415+54C=) | |
| 11 | g.17642300C>T | CA1955240501 | OTOG | c.8451+54C>T (n.8451+54C>T) c.8415+54C>T (n.8415+54C>T) | dbSNP gnomAD v4 |