Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17612668G>A | CA379804315 | OTOG | c.6377G>A (p.Ser2126Asn) c.6341G>A (p.Ser2114Asn) c.3395G>A (p.Ser1132Asn) | gnomAD v4 |
11 | g.17612668G>C | CA379804312 | OTOG | c.6377G>C (p.Ser2126Thr) c.6341G>C (p.Ser2114Thr) c.3395G>C (p.Ser1132Thr) | |
11 | g.17612668G>T | CA379804314 | OTOG | c.6377G>T (p.Ser2126Ile) c.6341G>T (p.Ser2114Ile) c.3395G>T (p.Ser1132Ile) | |
11 | g.17612668_17612669delinsGC | CA1955233071 | OTOG | c.6377_6378delinsGC (p.Ser2126=) c.6341_6342delinsGC (p.Ser2114=) c.3395_3396delinsGC (p.Ser1132=) | |
11 | g.17612669C>A | CA379804317 | OTOG | c.6378C>A (p.Ser2126Arg) c.6342C>A (p.Ser2114Arg) c.3396C>A (p.Ser1132Arg) | dbSNP |
11 | g.17612669C= | CA1955233073 | OTOG | c.6378C= (p.Ser2126=) c.6342C= (p.Ser2114=) c.3396C= (p.Ser1132=) | |
11 | g.17612669C>G | CA379804318 | OTOG | c.6378C>G (p.Ser2126Arg) c.6342C>G (p.Ser2114Arg) c.3396C>G (p.Ser1132Arg) | |
11 | g.17612669C>T | CA473305757 | OTOG | c.6378C>T (p.Ser2126=) c.6342C>T (p.Ser2114=) c.3396C>T (p.Ser1132=) | gnomAD v4 |
11 | g.17612670del | CA1955233072 | OTOG | c.6379del (p.His2127ThrfsTer2) c.6343del (p.His2115ThrfsTer2) c.3397del (p.His1133ThrfsTer2) | dbSNP |
11 | g.17612670C>A | CA379804319 | OTOG | c.6379C>A (p.His2127Asn) c.6343C>A (p.His2115Asn) c.3397C>A (p.His1133Asn) | |
11 | g.17612670C>G | CA379804320 | OTOG | c.6379C>G (p.His2127Asp) c.6343C>G (p.His2115Asp) c.3397C>G (p.His1133Asp) | |
11 | g.17612670C>T | CA379804322 | OTOG | c.6379C>T (p.His2127Tyr) c.6343C>T (p.His2115Tyr) c.3397C>T (p.His1133Tyr) | gnomAD v4 |
11 | g.17612671_17612677del | CA2612686819 | OTOG | c.6380_6386del (p.His2127LeufsTer?) c.6344_6350del (p.His2115LeufsTer?) c.3398_3404del (p.His1133LeufsTer?) | gnomAD v4 |
11 | g.17612671A= | CA1955233074 | OTOG | c.6380A= (p.His2127=) c.6344A= (p.His2115=) c.3398A= (p.His1133=) | |
11 | g.17612671A>C | CA218478824 | OTOG | c.6380A>C (p.His2127Pro) c.6344A>C (p.His2115Pro) c.3398A>C (p.His1133Pro) | dbSNP |
11 | g.17612671A>G | CA379804325 | OTOG | c.6380A>G (p.His2127Arg) c.6344A>G (p.His2115Arg) c.3398A>G (p.His1133Arg) | |
11 | g.17612671A>T | CA379804326 | OTOG | c.6380A>T (p.His2127Leu) c.6344A>T (p.His2115Leu) c.3398A>T (p.His1133Leu) | |
11 | g.17612672C>A | CA379804328 | OTOG | c.6381C>A (p.His2127Gln) c.6345C>A (p.His2115Gln) c.3399C>A (p.His1133Gln) | |
11 | g.17612672C= | CA1955233075 | OTOG | c.6381C= (p.His2127=) c.6345C= (p.His2115=) c.3399C= (p.His1133=) | |
11 | g.17612672C>G | CA379804330 | OTOG | c.6381C>G (p.His2127Gln) c.6345C>G (p.His2115Gln) c.3399C>G (p.His1133Gln) | |
11 | g.17612672C>T | CA473305759 | OTOG | c.6381C>T (p.His2127=) c.6345C>T (p.His2115=) c.3399C>T (p.His1133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612673G>A | CA218478825 | OTOG | c.6382G>A (p.Val2128Ile) c.6346G>A (p.Val2116Ile) c.3400G>A (p.Val1134Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612673G>C | CA379804332 | OTOG | c.6382G>C (p.Val2128Leu) c.6346G>C (p.Val2116Leu) c.3400G>C (p.Val1134Leu) | |
11 | g.17612673G= | CA1955233076 | OTOG | c.6382G= (p.Val2128=) c.6346G= (p.Val2116=) c.3400G= (p.Val1134=) | |
11 | g.17612673G>T | CA379804333 | OTOG | c.6382G>T (p.Val2128Leu) c.6346G>T (p.Val2116Leu) c.3400G>T (p.Val1134Leu) | |
11 | g.17612674T>A | CA379804337 | OTOG | c.6383T>A (p.Val2128Glu) c.6347T>A (p.Val2116Glu) c.3401T>A (p.Val1134Glu) | |
11 | g.17612674T>C | CA379804336 | OTOG | c.6383T>C (p.Val2128Ala) c.6347T>C (p.Val2116Ala) c.3401T>C (p.Val1134Ala) | dbSNP |
11 | g.17612674T>G | CA379804334 | OTOG | c.6383T>G (p.Val2128Gly) c.6347T>G (p.Val2116Gly) c.3401T>G (p.Val1134Gly) | |
11 | g.17612675A>C | CA473305763 | OTOG | c.6384A>C (p.Val2128=) c.6348A>C (p.Val2116=) c.3402A>C (p.Val1134=) | |
11 | g.17612675A>G | CA473305764 | OTOG | c.6384A>G (p.Val2128=) c.6348A>G (p.Val2116=) c.3402A>G (p.Val1134=) | gnomAD v4 |
11 | g.17612675A>T | CA473305765 | OTOG | c.6384A>T (p.Val2128=) c.6348A>T (p.Val2116=) c.3402A>T (p.Val1134=) | |
11 | g.17612676G>A | CA379804339 | OTOG | c.6385G>A (p.Ala2129Thr) c.6349G>A (p.Ala2117Thr) c.3403G>A (p.Ala1135Thr) | dbSNP gnomAD v4 |
11 | g.17612676G>C | CA379804340 | OTOG | c.6385G>C (p.Ala2129Pro) c.6349G>C (p.Ala2117Pro) c.3403G>C (p.Ala1135Pro) | gnomAD v4 |
11 | g.17612676G= | CA1955233077 | OTOG | c.6385G= (p.Ala2129=) c.6349G= (p.Ala2117=) c.3403G= (p.Ala1135=) | |
11 | g.17612676G>T | CA379804342 | OTOG | c.6385G>T (p.Ala2129Ser) c.6349G>T (p.Ala2117Ser) c.3403G>T (p.Ala1135Ser) | |
11 | g.17612677C>A | CA379804343 | OTOG | c.6386C>A (p.Ala2129Asp) c.6350C>A (p.Ala2117Asp) c.3404C>A (p.Ala1135Asp) | gnomAD v4 |
11 | g.17612677C= | CA1955233078 | OTOG | c.6386C= (p.Ala2129=) c.6350C= (p.Ala2117=) c.3404C= (p.Ala1135=) | |
11 | g.17612677C>G | CA379804345 | OTOG | c.6386C>G (p.Ala2129Gly) c.6350C>G (p.Ala2117Gly) c.3404C>G (p.Ala1135Gly) | |
11 | g.17612677C>T | CA218478831 | OTOG | c.6386C>T (p.Ala2129Val) c.6350C>T (p.Ala2117Val) c.3404C>T (p.Ala1135Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612678T>A | CA473305770 | OTOG | c.6387T>A (p.Ala2129=) c.6351T>A (p.Ala2117=) c.3405T>A (p.Ala1135=) | |
11 | g.17612678T>C | CA473305771 | OTOG | c.6387T>C (p.Ala2129=) c.6351T>C (p.Ala2117=) c.3405T>C (p.Ala1135=) | |
11 | g.17612678T>G | CA473305769 | OTOG | c.6387T>G (p.Ala2129=) c.6351T>G (p.Ala2117=) c.3405T>G (p.Ala1135=) | |
11 | g.17612679C>A | CA379804346 | OTOG | c.6388C>A (p.Leu2130Met) c.6352C>A (p.Leu2118Met) c.3406C>A (p.Leu1136Met) | |
11 | g.17612679C= | CA1955233079 | OTOG | c.6388C= (p.Leu2130=) c.6352C= (p.Leu2118=) c.3406C= (p.Leu1136=) | |
11 | g.17612679C>G | CA379804347 | OTOG | c.6388C>G (p.Leu2130Val) c.6352C>G (p.Leu2118Val) c.3406C>G (p.Leu1136Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612679C>T | CA473305772 | OTOG | c.6388C>T (p.Leu2130=) c.6352C>T (p.Leu2118=) c.3406C>T (p.Leu1136=) | |
11 | g.17612680T>A | CA379804349 | OTOG | c.6389T>A (p.Leu2130Gln) c.6353T>A (p.Leu2118Gln) c.3407T>A (p.Leu1136Gln) | |
11 | g.17612680T>C | CA379804351 | OTOG | c.6389T>C (p.Leu2130Pro) c.6353T>C (p.Leu2118Pro) c.3407T>C (p.Leu1136Pro) | |
11 | g.17612680T>G | CA379804352 | OTOG | c.6389T>G (p.Leu2130Arg) c.6353T>G (p.Leu2118Arg) c.3407T>G (p.Leu1136Arg) | |
11 | g.17612681G>A | CA473305775 | OTOG | c.6390G>A (p.Leu2130=) c.6354G>A (p.Leu2118=) c.3408G>A (p.Leu1136=) | gnomAD v4 |
11 | g.17612681G>C | CA218478839 | OTOG | c.6390G>C (p.Leu2130=) c.6354G>C (p.Leu2118=) c.3408G>C (p.Leu1136=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612681G= | CA1955233080 | OTOG | c.6390G= (p.Leu2130=) c.6354G= (p.Leu2118=) c.3408G= (p.Leu1136=) | |
11 | g.17612681G>T | CA473305774 | OTOG | c.6390G>T (p.Leu2130=) c.6354G>T (p.Leu2118=) c.3408G>T (p.Leu1136=) | |
11 | g.17612682T>A | CA379804353 | OTOG | c.6391T>A (p.Phe2131Ile) c.6355T>A (p.Phe2119Ile) c.3409T>A (p.Phe1137Ile) | |
11 | g.17612682T>C | CA379804354 | OTOG | c.6391T>C (p.Phe2131Leu) c.6355T>C (p.Phe2119Leu) c.3409T>C (p.Phe1137Leu) | |
11 | g.17612682T>G | CA379804356 | OTOG | c.6391T>G (p.Phe2131Val) c.6355T>G (p.Phe2119Val) c.3409T>G (p.Phe1137Val) | |
11 | g.17612683T>A | CA379804358 | OTOG | c.6392T>A (p.Phe2131Tyr) c.6356T>A (p.Phe2119Tyr) c.3410T>A (p.Phe1137Tyr) | |
11 | g.17612683T>C | CA379804359 | OTOG | c.6392T>C (p.Phe2131Ser) c.6356T>C (p.Phe2119Ser) c.3410T>C (p.Phe1137Ser) | |
11 | g.17612683T>G | CA218478848 | OTOG | c.6392T>G (p.Phe2131Cys) c.6356T>G (p.Phe2119Cys) c.3410T>G (p.Phe1137Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612683T= | CA1955233081 | OTOG | c.6392T= (p.Phe2131=) c.6356T= (p.Phe2119=) c.3410T= (p.Phe1137=) | |
11 | g.17612684C>A | CA379804361 | OTOG | c.6393C>A (p.Phe2131Leu) c.6357C>A (p.Phe2119Leu) c.3411C>A (p.Phe1137Leu) | |
11 | g.17612684C= | CA1955233082 | OTOG | c.6393C= (p.Phe2131=) c.6357C= (p.Phe2119=) c.3411C= (p.Phe1137=) | |
11 | g.17612684C>G | CA379804363 | OTOG | c.6393C>G (p.Phe2131Leu) c.6357C>G (p.Phe2119Leu) c.3411C>G (p.Phe1137Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612684C>T | CA473305776 | OTOG | c.6393C>T (p.Phe2131=) c.6357C>T (p.Phe2119=) c.3411C>T (p.Phe1137=) | gnomAD v4 |
11 | g.17612685A>C | CA379804365 | OTOG | c.6394A>C (p.Lys2132Gln) c.6358A>C (p.Lys2120Gln) c.3412A>C (p.Lys1138Gln) | |
11 | g.17612685A>G | CA379804366 | OTOG | c.6394A>G (p.Lys2132Glu) c.6358A>G (p.Lys2120Glu) c.3412A>G (p.Lys1138Glu) | |
11 | g.17612685A>T | CA379804368 | OTOG | c.6394A>T (p.Lys2132Ter) c.6358A>T (p.Lys2120Ter) c.3412A>T (p.Lys1138Ter) | |
11 | g.17612686A>C | CA379804370 | OTOG | c.6395A>C (p.Lys2132Thr) c.6359A>C (p.Lys2120Thr) c.3413A>C (p.Lys1138Thr) | |
11 | g.17612686A>G | CA379804372 | OTOG | c.6395A>G (p.Lys2132Arg) c.6359A>G (p.Lys2120Arg) c.3413A>G (p.Lys1138Arg) | |
11 | g.17612686A>T | CA379804373 | OTOG | c.6395A>T (p.Lys2132Met) c.6359A>T (p.Lys2120Met) c.3413A>T (p.Lys1138Met) | |
11 | g.17612687G>A | CA218478871 | OTOG | c.6396G>A (p.Lys2132=) c.6360G>A (p.Lys2120=) c.3414G>A (p.Lys1138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612687G>C | CA379804374 | OTOG | c.6396G>C (p.Lys2132Asn) c.6360G>C (p.Lys2120Asn) c.3414G>C (p.Lys1138Asn) | |
11 | g.17612687G= | CA1955233083 | OTOG | c.6396G= (p.Lys2132=) c.6360G= (p.Lys2120=) c.3414G= (p.Lys1138=) | |
11 | g.17612687G>T | CA379804376 | OTOG | c.6396G>T (p.Lys2132Asn) c.6360G>T (p.Lys2120Asn) c.3414G>T (p.Lys1138Asn) | |
11 | g.17612688G>A | CA379804378 | OTOG | c.6397G>A (p.Glu2133Lys) c.6361G>A (p.Glu2121Lys) c.3415G>A (p.Glu1139Lys) | gnomAD v4 |
11 | g.17612688G>C | CA379804380 | OTOG | c.6397G>C (p.Glu2133Gln) c.6361G>C (p.Glu2121Gln) c.3415G>C (p.Glu1139Gln) | |
11 | g.17612688G>T | CA379804381 | OTOG | c.6397G>T (p.Glu2133Ter) c.6361G>T (p.Glu2121Ter) c.3415G>T (p.Glu1139Ter) | |
11 | g.17612689A>C | CA379804385 | OTOG | c.6398A>C (p.Glu2133Ala) c.6362A>C (p.Glu2121Ala) c.3416A>C (p.Glu1139Ala) | |
11 | g.17612689A>G | CA379804382 | OTOG | c.6398A>G (p.Glu2133Gly) c.6362A>G (p.Glu2121Gly) c.3416A>G (p.Glu1139Gly) | gnomAD v4 |
11 | g.17612689A>T | CA379804384 | OTOG | c.6398A>T (p.Glu2133Val) c.6362A>T (p.Glu2121Val) c.3416A>T (p.Glu1139Val) | |
11 | g.17612690G>A | CA473305778 | OTOG | c.6399G>A (p.Glu2133=) c.6363G>A (p.Glu2121=) c.3417G>A (p.Glu1139=) | |
11 | g.17612690G>C | CA379804386 | OTOG | c.6399G>C (p.Glu2133Asp) c.6363G>C (p.Glu2121Asp) c.3417G>C (p.Glu1139Asp) | |
11 | g.17612690G>T | CA379804387 | OTOG | c.6399G>T (p.Glu2133Asp) c.6363G>T (p.Glu2121Asp) c.3417G>T (p.Glu1139Asp) | |
11 | g.17612691G>A | CA379804388 | OTOG | c.6400G>A (p.Ala2134Thr) c.6364G>A (p.Ala2122Thr) c.3418G>A (p.Ala1140Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612691G>C | CA379804389 | OTOG | c.6400G>C (p.Ala2134Pro) c.6364G>C (p.Ala2122Pro) c.3418G>C (p.Ala1140Pro) | |
11 | g.17612691G= | CA1955233084 | OTOG | c.6400G= (p.Ala2134=) c.6364G= (p.Ala2122=) c.3418G= (p.Ala1140=) | |
11 | g.17612691G>T | CA379804390 | OTOG | c.6400G>T (p.Ala2134Ser) c.6364G>T (p.Ala2122Ser) c.3418G>T (p.Ala1140Ser) | |
11 | g.17612692C>A | CA379804391 | OTOG | c.6401C>A (p.Ala2134Asp) c.6365C>A (p.Ala2122Asp) c.3419C>A (p.Ala1140Asp) | |
11 | g.17612692C>G | CA379804392 | OTOG | c.6401C>G (p.Ala2134Gly) c.6365C>G (p.Ala2122Gly) c.3419C>G (p.Ala1140Gly) | |
11 | g.17612692C>T | CA379804394 | OTOG | c.6401C>T (p.Ala2134Val) c.6365C>T (p.Ala2122Val) c.3419C>T (p.Ala1140Val) | gnomAD v4 |
11 | g.17612693C>A | CA473305779 | OTOG | c.6402C>A (p.Ala2134=) c.6366C>A (p.Ala2122=) c.3420C>A (p.Ala1140=) | |
11 | g.17612693C>G | CA473305780 | OTOG | c.6402C>G (p.Ala2134=) c.6366C>G (p.Ala2122=) c.3420C>G (p.Ala1140=) | |
11 | g.17612693C>T | CA473305781 | OTOG | c.6402C>T (p.Ala2134=) c.6366C>T (p.Ala2122=) c.3420C>T (p.Ala1140=) | gnomAD v4 |
11 | g.17612694A>C | CA379804396 | OTOG | c.6403A>C (p.Ile2135Leu) c.6367A>C (p.Ile2123Leu) c.3421A>C (p.Ile1141Leu) | |
11 | g.17612694A>G | CA379804397 | OTOG | c.6403A>G (p.Ile2135Val) c.6367A>G (p.Ile2123Val) c.3421A>G (p.Ile1141Val) | |
11 | g.17612694A>T | CA379804399 | OTOG | c.6403A>T (p.Ile2135Phe) c.6367A>T (p.Ile2123Phe) c.3421A>T (p.Ile1141Phe) | |
11 | g.17612695T>A | CA379804400 | OTOG | c.6404T>A (p.Ile2135Asn) c.6368T>A (p.Ile2123Asn) c.3422T>A (p.Ile1141Asn) | |
11 | g.17612695T>C | CA379804404 | OTOG | c.6404T>C (p.Ile2135Thr) c.6368T>C (p.Ile2123Thr) c.3422T>C (p.Ile1141Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612695T>G | CA379804402 | OTOG | c.6404T>G (p.Ile2135Ser) c.6368T>G (p.Ile2123Ser) c.3422T>G (p.Ile1141Ser) | |
11 | g.17612695T= | CA1955233085 | OTOG | c.6404T= (p.Ile2135=) c.6368T= (p.Ile2123=) c.3422T= (p.Ile1141=) | |
11 | g.17612696C>A | CA473305782 | OTOG | c.6405C>A (p.Ile2135=) c.6369C>A (p.Ile2123=) c.3423C>A (p.Ile1141=) | |
11 | g.17612696C>G | CA379804406 | OTOG | c.6405C>G (p.Ile2135Met) c.6369C>G (p.Ile2123Met) c.3423C>G (p.Ile1141Met) | |
11 | g.17612696C>T | CA473305783 | OTOG | c.6405C>T (p.Ile2135=) c.6369C>T (p.Ile2123=) c.3423C>T (p.Ile1141=) | |
11 | g.17612697T>A | CA379804412 | OTOG | c.6406T>A (p.Tyr2136Asn) c.6370T>A (p.Tyr2124Asn) c.3424T>A (p.Tyr1142Asn) | |
11 | g.17612697T>C | CA379804413 | OTOG | c.6406T>C (p.Tyr2136His) c.6370T>C (p.Tyr2124His) c.3424T>C (p.Tyr1142His) | |
11 | g.17612697T>G | CA379804415 | OTOG | c.6406T>G (p.Tyr2136Asp) c.6370T>G (p.Tyr2124Asp) c.3424T>G (p.Tyr1142Asp) | |
11 | g.17612698A= | CA1955233086 | OTOG | c.6407A= (p.Tyr2136=) c.6371A= (p.Tyr2124=) c.3425A= (p.Tyr1142=) | |
11 | g.17612698A>C | CA379804417 | OTOG | c.6407A>C (p.Tyr2136Ser) c.6371A>C (p.Tyr2124Ser) c.3425A>C (p.Tyr1142Ser) | |
11 | g.17612698A>G | CA379804419 | OTOG | c.6407A>G (p.Tyr2136Cys) c.6371A>G (p.Tyr2124Cys) c.3425A>G (p.Tyr1142Cys) | dbSNP |
11 | g.17612698A>T | CA379804421 | OTOG | c.6407A>T (p.Tyr2136Phe) c.6371A>T (p.Tyr2124Phe) c.3425A>T (p.Tyr1142Phe) | |
11 | g.17612699C>A | CA379804423 | OTOG | c.6408C>A (p.Tyr2136Ter) c.6372C>A (p.Tyr2124Ter) c.3426C>A (p.Tyr1142Ter) | |
11 | g.17612699C= | CA1955233087 | OTOG | c.6408C= (p.Tyr2136=) c.6372C= (p.Tyr2124=) c.3426C= (p.Tyr1142=) | |
11 | g.17612699C>G | CA379804424 | OTOG | c.6408C>G (p.Tyr2136Ter) c.6372C>G (p.Tyr2124Ter) c.3426C>G (p.Tyr1142Ter) | |
11 | g.17612699C>T | CA473305784 | OTOG | c.6408C>T (p.Tyr2136=) c.6372C>T (p.Tyr2124=) c.3426C>T (p.Tyr1142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612700A>C | CA379804425 | OTOG | c.6409A>C (p.Ile2137Leu) c.6373A>C (p.Ile2125Leu) c.3427A>C (p.Ile1143Leu) | |
11 | g.17612700A>G | CA379804427 | OTOG | c.6409A>G (p.Ile2137Val) c.6373A>G (p.Ile2125Val) c.3427A>G (p.Ile1143Val) | |
11 | g.17612700A>T | CA379804429 | OTOG | c.6409A>T (p.Ile2137Phe) c.6373A>T (p.Ile2125Phe) c.3427A>T (p.Ile1143Phe) | |
11 | g.17612701T>A | CA379804431 | OTOG | c.6410T>A (p.Ile2137Asn) c.6374T>A (p.Ile2125Asn) c.3428T>A (p.Ile1143Asn) | |
11 | g.17612701T>C | CA379804432 | OTOG | c.6410T>C (p.Ile2137Thr) c.6374T>C (p.Ile2125Thr) c.3428T>C (p.Ile1143Thr) | |
11 | g.17612701T>G | CA379804434 | OTOG | c.6410T>G (p.Ile2137Ser) c.6374T>G (p.Ile2125Ser) c.3428T>G (p.Ile1143Ser) | |
11 | g.17612702C>A | CA473305785 | OTOG | c.6411C>A (p.Ile2137=) c.6375C>A (p.Ile2125=) c.3429C>A (p.Ile1143=) | |
11 | g.17612702C= | CA1955233088 | OTOG | c.6411C= (p.Ile2137=) c.6375C= (p.Ile2125=) c.3429C= (p.Ile1143=) | |
11 | g.17612702C>G | CA379804435 | OTOG | c.6411C>G (p.Ile2137Met) c.6375C>G (p.Ile2125Met) c.3429C>G (p.Ile1143Met) | |
11 | g.17612702C>T | CA218478885 | OTOG | c.6411C>T (p.Ile2137=) c.6375C>T (p.Ile2125=) c.3429C>T (p.Ile1143=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612703C>A | CA379804437 | OTOG | c.6412C>A (p.Leu2138Ile) c.6376C>A (p.Leu2126Ile) c.3430C>A (p.Leu1144Ile) | dbSNP gnomAD v4 |
11 | g.17612703C= | CA1955233089 | OTOG | c.6412C= (p.Leu2138=) c.6376C= (p.Leu2126=) c.3430C= (p.Leu1144=) | |
11 | g.17612703C>G | CA379804438 | OTOG | c.6412C>G (p.Leu2138Val) c.6376C>G (p.Leu2126Val) c.3430C>G (p.Leu1144Val) | |
11 | g.17612703C>T | CA379804439 | OTOG | c.6412C>T (p.Leu2138Phe) c.6376C>T (p.Leu2126Phe) c.3430C>T (p.Leu1144Phe) | |
11 | g.17612704T>A | CA379804440 | OTOG | c.6413T>A (p.Leu2138His) c.6377T>A (p.Leu2126His) c.3431T>A (p.Leu1144His) | |
11 | g.17612704T>C | CA379804441 | OTOG | c.6413T>C (p.Leu2138Pro) c.6377T>C (p.Leu2126Pro) c.3431T>C (p.Leu1144Pro) | |
11 | g.17612704T>G | CA379804442 | OTOG | c.6413T>G (p.Leu2138Arg) c.6377T>G (p.Leu2126Arg) c.3431T>G (p.Leu1144Arg) | |
11 | g.17612705C>A | CA473305788 | OTOG | c.6414C>A (p.Leu2138=) c.6378C>A (p.Leu2126=) c.3432C>A (p.Leu1144=) | |
11 | g.17612705C>G | CA473305786 | OTOG | c.6414C>G (p.Leu2138=) c.6378C>G (p.Leu2126=) c.3432C>G (p.Leu1144=) | |
11 | g.17612705C>T | CA473305787 | OTOG | c.6414C>T (p.Leu2138=) c.6378C>T (p.Leu2126=) c.3432C>T (p.Leu1144=) | |
11 | g.17612706A= | CA1955233090 | OTOG | c.6415A= (p.Ser2139=) c.6379A= (p.Ser2127=) c.3433A= (p.Ser1145=) | |
11 | g.17612706A>C | CA379804444 | OTOG | c.6415A>C (p.Ser2139Arg) c.6379A>C (p.Ser2127Arg) c.3433A>C (p.Ser1145Arg) | |
11 | g.17612706A>G | CA218478893 | OTOG | c.6415A>G (p.Ser2139Gly) c.6379A>G (p.Ser2127Gly) c.3433A>G (p.Ser1145Gly) | dbSNP gnomAD v4 |
11 | g.17612706A>T | CA379804447 | OTOG | c.6415A>T (p.Ser2139Cys) c.6379A>T (p.Ser2127Cys) c.3433A>T (p.Ser1145Cys) | |
11 | g.17612707G>A | CA379804448 | OTOG | c.6416G>A (p.Ser2139Asn) c.6380G>A (p.Ser2127Asn) c.3434G>A (p.Ser1145Asn) | gnomAD v4 |
11 | g.17612707G>C | CA379804449 | OTOG | c.6416G>C (p.Ser2139Thr) c.6380G>C (p.Ser2127Thr) c.3434G>C (p.Ser1145Thr) | |
11 | g.17612707G>T | CA379804450 | OTOG | c.6416G>T (p.Ser2139Ile) c.6380G>T (p.Ser2127Ile) c.3434G>T (p.Ser1145Ile) | |
11 | g.17612708C>A | CA379804451 | OTOG | c.6417C>A (p.Ser2139Arg) c.6381C>A (p.Ser2127Arg) c.3435C>A (p.Ser1145Arg) | |
11 | g.17612708C>G | CA379804452 | OTOG | c.6417C>G (p.Ser2139Arg) c.6381C>G (p.Ser2127Arg) c.3435C>G (p.Ser1145Arg) | |
11 | g.17612708C>T | CA473305789 | OTOG | c.6417C>T (p.Ser2139=) c.6381C>T (p.Ser2127=) c.3435C>T (p.Ser1145=) | |
11 | g.17612709C>A | CA379804453 | OTOG | c.6418C>A (p.Gln2140Lys) c.6382C>A (p.Gln2128Lys) c.3436C>A (p.Gln1146Lys) | |
11 | g.17612709C= | CA1955233091 | OTOG | c.6418C= (p.Gln2140=) c.6382C= (p.Gln2128=) c.3436C= (p.Gln1146=) | |
11 | g.17612709C>G | CA379804455 | OTOG | c.6418C>G (p.Gln2140Glu) c.6382C>G (p.Gln2128Glu) c.3436C>G (p.Gln1146Glu) | |
11 | g.17612709C>T | CA379804454 | OTOG | c.6418C>T (p.Gln2140Ter) c.6382C>T (p.Gln2128Ter) c.3436C>T (p.Gln1146Ter) | dbSNP |
11 | g.17612710A>C | CA379804456 | OTOG | c.6419A>C (p.Gln2140Pro) c.6383A>C (p.Gln2128Pro) c.3437A>C (p.Gln1146Pro) | gnomAD v4 |
11 | g.17612710A>G | CA379804457 | OTOG | c.6419A>G (p.Gln2140Arg) c.6383A>G (p.Gln2128Arg) c.3437A>G (p.Gln1146Arg) | gnomAD v4 |
11 | g.17612710A>T | CA379804458 | OTOG | c.6419A>T (p.Gln2140Leu) c.6383A>T (p.Gln2128Leu) c.3437A>T (p.Gln1146Leu) | |
11 | g.17612711G>A | CA473305790 | OTOG | c.6420G>A (p.Gln2140=) c.6384G>A (p.Gln2128=) c.3438G>A (p.Gln1146=) | |
11 | g.17612711G>C | CA379804459 | OTOG | c.6420G>C (p.Gln2140His) c.6384G>C (p.Gln2128His) c.3438G>C (p.Gln1146His) | |
11 | g.17612711G>T | CA379804460 | OTOG | c.6420G>T (p.Gln2140His) c.6384G>T (p.Gln2128His) c.3438G>T (p.Gln1146His) | |
11 | g.17612712A>C | CA379804461 | OTOG | c.6421A>C (p.Ser2141Arg) c.6385A>C (p.Ser2129Arg) c.3439A>C (p.Ser1147Arg) | |
11 | g.17612712A>G | CA379804462 | OTOG | c.6421A>G (p.Ser2141Gly) c.6385A>G (p.Ser2129Gly) c.3439A>G (p.Ser1147Gly) | gnomAD v4 |
11 | g.17612712A>T | CA379804463 | OTOG | c.6421A>T (p.Ser2141Cys) c.6385A>T (p.Ser2129Cys) c.3439A>T (p.Ser1147Cys) | |
11 | g.17612713G>A | CA218478901 | OTOG | c.6422G>A (p.Ser2141Asn) c.6386G>A (p.Ser2129Asn) c.3440G>A (p.Ser1147Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612713G>C | CA379804464 | OTOG | c.6422G>C (p.Ser2141Thr) c.6386G>C (p.Ser2129Thr) c.3440G>C (p.Ser1147Thr) | |
11 | g.17612713G= | CA1955233092 | OTOG | c.6422G= (p.Ser2141=) c.6386G= (p.Ser2129=) c.3440G= (p.Ser1147=) | |
11 | g.17612713G>T | CA379804465 | OTOG | c.6422G>T (p.Ser2141Ile) c.6386G>T (p.Ser2129Ile) c.3440G>T (p.Ser1147Ile) | |
11 | g.17612714C>A | CA379804466 | OTOG | c.6423C>A (p.Ser2141Arg) c.6387C>A (p.Ser2129Arg) c.3441C>A (p.Ser1147Arg) | gnomAD v4 |
11 | g.17612714C>G | CA379804467 | OTOG | c.6423C>G (p.Ser2141Arg) c.6387C>G (p.Ser2129Arg) c.3441C>G (p.Ser1147Arg) | gnomAD v4 |
11 | g.17612714C>T | CA473305791 | OTOG | c.6423C>T (p.Ser2141=) c.6387C>T (p.Ser2129=) c.3441C>T (p.Ser1147=) | |
11 | g.17612715C>A | CA379804470 | OTOG | c.6424C>A (p.Pro2142Thr) c.6388C>A (p.Pro2130Thr) c.3442C>A (p.Pro1148Thr) | |
11 | g.17612715C>G | CA379804468 | OTOG | c.6424C>G (p.Pro2142Ala) c.6388C>G (p.Pro2130Ala) c.3442C>G (p.Pro1148Ala) | |
11 | g.17612715C>T | CA379804469 | OTOG | c.6424C>T (p.Pro2142Ser) c.6388C>T (p.Pro2130Ser) c.3442C>T (p.Pro1148Ser) | |
11 | g.17612716C>A | CA379804471 | OTOG | c.6425C>A (p.Pro2142Gln) c.6389C>A (p.Pro2130Gln) c.3443C>A (p.Pro1148Gln) | |
11 | g.17612716C>G | CA379804472 | OTOG | c.6425C>G (p.Pro2142Arg) c.6389C>G (p.Pro2130Arg) c.3443C>G (p.Pro1148Arg) | |
11 | g.17612716C>T | CA379804473 | OTOG | c.6425C>T (p.Pro2142Leu) c.6389C>T (p.Pro2130Leu) c.3443C>T (p.Pro1148Leu) | |
11 | g.17612717A>C | CA473305792 | OTOG | c.6426A>C (p.Pro2142=) c.6390A>C (p.Pro2130=) c.3444A>C (p.Pro1148=) | |
11 | g.17612717A>G | CA473305793 | OTOG | c.6426A>G (p.Pro2142=) c.6390A>G (p.Pro2130=) c.3444A>G (p.Pro1148=) | |
11 | g.17612717A>T | CA473305794 | OTOG | c.6426A>T (p.Pro2142=) c.6390A>T (p.Pro2130=) c.3444A>T (p.Pro1148=) | |
11 | g.17612718G>A | CA379804474 | OTOG | c.6427G>A (p.Asp2143Asn) c.6391G>A (p.Asp2131Asn) c.3445G>A (p.Asp1149Asn) | dbSNP gnomAD v4 |
11 | g.17612718G>C | CA379804475 | OTOG | c.6427G>C (p.Asp2143His) c.6391G>C (p.Asp2131His) c.3445G>C (p.Asp1149His) | |
11 | g.17612718G= | CA1955233093 | OTOG | c.6427G= (p.Asp2143=) c.6391G= (p.Asp2131=) c.3445G= (p.Asp1149=) | |
11 | g.17612718G>T | CA379804476 | OTOG | c.6427G>T (p.Asp2143Tyr) c.6391G>T (p.Asp2131Tyr) c.3445G>T (p.Asp1149Tyr) | |
11 | g.17612719A= | CA1955233094 | OTOG | c.6428A= (p.Asp2143=) c.6392A= (p.Asp2131=) c.3446A= (p.Asp1149=) | |
11 | g.17612719A>C | CA379804477 | OTOG | c.6428A>C (p.Asp2143Ala) c.6392A>C (p.Asp2131Ala) c.3446A>C (p.Asp1149Ala) | |
11 | g.17612719A>G | CA379804478 | OTOG | c.6428A>G (p.Asp2143Gly) c.6392A>G (p.Asp2131Gly) c.3446A>G (p.Asp1149Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612719A>T | CA379804479 | OTOG | c.6428A>T (p.Asp2143Val) c.6392A>T (p.Asp2131Val) c.3446A>T (p.Asp1149Val) | |
11 | g.17612720T>A | CA379804480 | OTOG | c.6429T>A (p.Asp2143Glu) c.6393T>A (p.Asp2131Glu) c.3447T>A (p.Asp1149Glu) | |
11 | g.17612720T>C | CA473305795 | OTOG | c.6429T>C (p.Asp2143=) c.6393T>C (p.Asp2131=) c.3447T>C (p.Asp1149=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612720T>G | CA379804481 | OTOG | c.6429T>G (p.Asp2143Glu) c.6393T>G (p.Asp2131Glu) c.3447T>G (p.Asp1149Glu) | gnomAD v4 |
11 | g.17612720T= | CA1955233095 | OTOG | c.6429T= (p.Asp2143=) c.6393T= (p.Asp2131=) c.3447T= (p.Asp1149=) | |
11 | g.17612721G>A | CA218478911 | OTOG | c.6430G>A (p.Glu2144Lys) c.6394G>A (p.Glu2132Lys) c.3448G>A (p.Glu1150Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612721G>C | CA379804483 | OTOG | c.6430G>C (p.Glu2144Gln) c.6394G>C (p.Glu2132Gln) c.3448G>C (p.Glu1150Gln) | |
11 | g.17612721G= | CA1955233096 | OTOG | c.6430G= (p.Glu2144=) c.6394G= (p.Glu2132=) c.3448G= (p.Glu1150=) | |
11 | g.17612721G>T | CA379804482 | OTOG | c.6430G>T (p.Glu2144Ter) c.6394G>T (p.Glu2132Ter) c.3448G>T (p.Glu1150Ter) | |
11 | g.17612722A>C | CA379804484 | OTOG | c.6431A>C (p.Glu2144Ala) c.6395A>C (p.Glu2132Ala) c.3449A>C (p.Glu1150Ala) | |
11 | g.17612722A>G | CA379804486 | OTOG | c.6431A>G (p.Glu2144Gly) c.6395A>G (p.Glu2132Gly) c.3449A>G (p.Glu1150Gly) | COSMIC |
11 | g.17612722A>T | CA379804485 | OTOG | c.6431A>T (p.Glu2144Val) c.6395A>T (p.Glu2132Val) c.3449A>T (p.Glu1150Val) | |
11 | g.17612723A>C | CA379804487 | OTOG | c.6432A>C (p.Glu2144Asp) c.6396A>C (p.Glu2132Asp) c.3450A>C (p.Glu1150Asp) | |
11 | g.17612723A>G | CA473305796 | OTOG | c.6432A>G (p.Glu2144=) c.6396A>G (p.Glu2132=) c.3450A>G (p.Glu1150=) | |
11 | g.17612723A>T | CA379804488 | OTOG | c.6432A>T (p.Glu2144Asp) c.6396A>T (p.Glu2132Asp) c.3450A>T (p.Glu1150Asp) | |
11 | g.17612724A>C | CA379804489 | OTOG | c.6433A>C (p.Met2145Leu) c.6397A>C (p.Met2133Leu) c.3451A>C (p.Met1151Leu) | |
11 | g.17612724A>G | CA379804490 | OTOG | c.6433A>G (p.Met2145Val) c.6397A>G (p.Met2133Val) c.3451A>G (p.Met1151Val) | |
11 | g.17612724A>T | CA379804491 | OTOG | c.6433A>T (p.Met2145Leu) c.6397A>T (p.Met2133Leu) c.3451A>T (p.Met1151Leu) | |
11 | g.17612725T>A | CA379804493 | OTOG | c.6434T>A (p.Met2145Lys) c.6398T>A (p.Met2133Lys) c.3452T>A (p.Met1151Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612725T>C | CA379804495 | OTOG | c.6434T>C (p.Met2145Thr) c.6398T>C (p.Met2133Thr) c.3452T>C (p.Met1151Thr) | |
11 | g.17612725T>G | CA379804499 | OTOG | c.6434T>G (p.Met2145Arg) c.6398T>G (p.Met2133Arg) c.3452T>G (p.Met1151Arg) | |
11 | g.17612725T= | CA1955233097 | OTOG | c.6434T= (p.Met2145=) c.6398T= (p.Met2133=) c.3452T= (p.Met1151=) | |
11 | g.17612726G>A | CA379804500 | OTOG | c.6435G>A (p.Met2145Ile) c.6399G>A (p.Met2133Ile) c.3453G>A (p.Met1151Ile) | dbSNP gnomAD v4 |
11 | g.17612726G>C | CA379804502 | OTOG | c.6435G>C (p.Met2145Ile) c.6399G>C (p.Met2133Ile) c.3453G>C (p.Met1151Ile) | |
11 | g.17612726G= | CA1955233098 | OTOG | c.6435G= (p.Met2145=) c.6399G= (p.Met2133=) c.3453G= (p.Met1151=) | |
11 | g.17612726G>T | CA379804503 | OTOG | c.6435G>T (p.Met2145Ile) c.6399G>T (p.Met2133Ile) c.3453G>T (p.Met1151Ile) | |
11 | g.17612727C>A | CA379804508 | OTOG | c.6436C>A (p.Leu2146Ile) c.6400C>A (p.Leu2134Ile) c.3454C>A (p.Leu1152Ile) | |
11 | g.17612727C>G | CA379804505 | OTOG | c.6436C>G (p.Leu2146Val) c.6400C>G (p.Leu2134Val) c.3454C>G (p.Leu1152Val) | dbSNP |
11 | g.17612727C>T | CA379804506 | OTOG | c.6436C>T (p.Leu2146Phe) c.6400C>T (p.Leu2134Phe) c.3454C>T (p.Leu1152Phe) | gnomAD v4 |
11 | g.17612728T>A | CA379804509 | OTOG | c.6437T>A (p.Leu2146His) c.6401T>A (p.Leu2134His) c.3455T>A (p.Leu1152His) | |
11 | g.17612728T>C | CA379804510 | OTOG | c.6437T>C (p.Leu2146Pro) c.6401T>C (p.Leu2134Pro) c.3455T>C (p.Leu1152Pro) | |
11 | g.17612728T>G | CA379804511 | OTOG | c.6437T>G (p.Leu2146Arg) c.6401T>G (p.Leu2134Arg) c.3455T>G (p.Leu1152Arg) | |
11 | g.17612729C>A | CA473305797 | OTOG | c.6438C>A (p.Leu2146=) c.6402C>A (p.Leu2134=) c.3456C>A (p.Leu1152=) | gnomAD v4 |
11 | g.17612729C= | CA1955233099 | OTOG | c.6438C= (p.Leu2146=) c.6402C= (p.Leu2134=) c.3456C= (p.Leu1152=) | |
11 | g.17612729C>G | CA473305798 | OTOG | c.6438C>G (p.Leu2146=) c.6402C>G (p.Leu2134=) c.3456C>G (p.Leu1152=) | |
11 | g.17612729C>T | CA473305799 | OTOG | c.6438C>T (p.Leu2146=) c.6402C>T (p.Leu2134=) c.3456C>T (p.Leu1152=) | dbSNP gnomAD v4 |
11 | g.17612730A= | CA1955233100 | OTOG | c.6439A= (p.Thr2147=) c.6403A= (p.Thr2135=) c.3457A= (p.Thr1153=) | |
11 | g.17612730A>C | CA379804513 | OTOG | c.6439A>C (p.Thr2147Pro) c.6403A>C (p.Thr2135Pro) c.3457A>C (p.Thr1153Pro) | |
11 | g.17612730A>G | CA379804515 | OTOG | c.6439A>G (p.Thr2147Ala) c.6403A>G (p.Thr2135Ala) c.3457A>G (p.Thr1153Ala) | dbSNP gnomAD v4 |
11 | g.17612730A>T | CA379804516 | OTOG | c.6439A>T (p.Thr2147Ser) c.6403A>T (p.Thr2135Ser) c.3457A>T (p.Thr1153Ser) | |
11 | g.17612731C>A | CA379804518 | OTOG | c.6440C>A (p.Thr2147Asn) c.6404C>A (p.Thr2135Asn) c.3458C>A (p.Thr1153Asn) | |
11 | g.17612731C= | CA1955233101 | OTOG | c.6440C= (p.Thr2147=) c.6404C= (p.Thr2135=) c.3458C= (p.Thr1153=) | |
11 | g.17612731C>G | CA379804520 | OTOG | c.6440C>G (p.Thr2147Ser) c.6404C>G (p.Thr2135Ser) c.3458C>G (p.Thr1153Ser) | |
11 | g.17612731C>T | CA379804522 | OTOG | c.6440C>T (p.Thr2147Ile) c.6404C>T (p.Thr2135Ile) c.3458C>T (p.Thr1153Ile) | dbSNP |
11 | g.17612732C>A | CA473305800 | OTOG | c.6441C>A (p.Thr2147=) c.6405C>A (p.Thr2135=) c.3459C>A (p.Thr1153=) | gnomAD v4 |
11 | g.17612732C= | CA1955233102 | OTOG | c.6441C= (p.Thr2147=) c.6405C= (p.Thr2135=) c.3459C= (p.Thr1153=) | |
11 | g.17612732C>G | CA473305801 | OTOG | c.6441C>G (p.Thr2147=) c.6405C>G (p.Thr2135=) c.3459C>G (p.Thr1153=) | |
11 | g.17612732C>T | CA5906024 | OTOG | c.6441C>T (p.Thr2147=) c.6405C>T (p.Thr2135=) c.3459C>T (p.Thr1153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612733G>A | CA379804526 | OTOG | c.6442G>A (p.Val2148Ile) c.6406G>A (p.Val2136Ile) c.3460G>A (p.Val1154Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17612733G>C | CA379804528 | OTOG | c.6442G>C (p.Val2148Leu) c.6406G>C (p.Val2136Leu) c.3460G>C (p.Val1154Leu) | |
11 | g.17612733G= | CA1955233103 | OTOG | c.6442G= (p.Val2148=) c.6406G= (p.Val2136=) c.3460G= (p.Val1154=) | |
11 | g.17612733G>T | CA379804524 | OTOG | c.6442G>T (p.Val2148Phe) c.6406G>T (p.Val2136Phe) c.3460G>T (p.Val1154Phe) | gnomAD v3 gnomAD v4 |
11 | g.17612734T>A | CA379804530 | OTOG | c.6443T>A (p.Val2148Asp) c.6407T>A (p.Val2136Asp) c.3461T>A (p.Val1154Asp) | gnomAD v4 |
11 | g.17612734T>C | CA379804532 | OTOG | c.6443T>C (p.Val2148Ala) c.6407T>C (p.Val2136Ala) c.3461T>C (p.Val1154Ala) | dbSNP gnomAD v4 |
11 | g.17612734T>G | CA379804533 | OTOG | c.6443T>G (p.Val2148Gly) c.6407T>G (p.Val2136Gly) c.3461T>G (p.Val1154Gly) | |
11 | g.17612734T= | CA1955233104 | OTOG | c.6443T= (p.Val2148=) c.6407T= (p.Val2136=) c.3461T= (p.Val1154=) | |
11 | g.17612735C>A | CA218478920 | OTOG | c.6444C>A (p.Val2148=) c.6408C>A (p.Val2136=) c.3462C>A (p.Val1154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612735C= | CA1955233105 | OTOG | c.6444C= (p.Val2148=) c.6408C= (p.Val2136=) c.3462C= (p.Val1154=) | |
11 | g.17612735C>G | CA473305802 | OTOG | c.6444C>G (p.Val2148=) c.6408C>G (p.Val2136=) c.3462C>G (p.Val1154=) | |
11 | g.17612735C>T | CA473305803 | OTOG | c.6444C>T (p.Val2148=) c.6408C>T (p.Val2136=) c.3462C>T (p.Val1154=) | |
11 | g.17612736C>A | CA379804535 | OTOG | c.6445C>A (p.His2149Asn) c.6409C>A (p.His2137Asn) c.3463C>A (p.His1155Asn) | |
11 | g.17612736C= | CA1955233106 | OTOG | c.6445C= (p.His2149=) c.6409C= (p.His2137=) c.3463C= (p.His1155=) | |
11 | g.17612736C>G | CA379804536 | OTOG | c.6445C>G (p.His2149Asp) c.6409C>G (p.His2137Asp) c.3463C>G (p.His1155Asp) | |
11 | g.17612736C>T | CA379804538 | OTOG | c.6445C>T (p.His2149Tyr) c.6409C>T (p.His2137Tyr) c.3463C>T (p.His1155Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612737A>C | CA379804540 | OTOG | c.6446A>C (p.His2149Pro) c.6410A>C (p.His2137Pro) c.3464A>C (p.His1155Pro) | |
11 | g.17612737A>G | CA379804541 | OTOG | c.6446A>G (p.His2149Arg) c.6410A>G (p.His2137Arg) c.3464A>G (p.His1155Arg) | gnomAD v4 |
11 | g.17612737A>T | CA379804542 | OTOG | c.6446A>T (p.His2149Leu) c.6410A>T (p.His2137Leu) c.3464A>T (p.His1155Leu) | |
11 | g.17612738T>A | CA379804544 | OTOG | c.6447T>A (p.His2149Gln) c.6411T>A (p.His2137Gln) c.3465T>A (p.His1155Gln) | gnomAD v4 |
11 | g.17612738T>C | CA473305804 | OTOG | c.6447T>C (p.His2149=) c.6411T>C (p.His2137=) c.3465T>C (p.His1155=) | |
11 | g.17612738T>G | CA5906025 | OTOG | c.6447T>G (p.His2149Gln) c.6411T>G (p.His2137Gln) c.3465T>G (p.His1155Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612738T= | CA1955233107 | OTOG | c.6447T= (p.His2149=) c.6411T= (p.His2137=) c.3465T= (p.His1155=) | |
11 | g.17612739G>A | CA5906026 | OTOG | c.6448G>A (p.Val2150Ile) c.6412G>A (p.Val2138Ile) c.3466G>A (p.Val1156Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17612739G>C | CA379804550 | OTOG | c.6448G>C (p.Val2150Leu) c.6412G>C (p.Val2138Leu) c.3466G>C (p.Val1156Leu) | |
11 | g.17612739G= | CA1955233108 | OTOG | c.6448G= (p.Val2150=) c.6412G= (p.Val2138=) c.3466G= (p.Val1156=) | |
11 | g.17612739G>T | CA379804547 | OTOG | c.6448G>T (p.Val2150Leu) c.6412G>T (p.Val2138Leu) c.3466G>T (p.Val1156Leu) | |
11 | g.17612740T>A | CA379804551 | OTOG | c.6449T>A (p.Val2150Glu) c.6413T>A (p.Val2138Glu) c.3467T>A (p.Val1156Glu) | |
11 | g.17612740T>C | CA379804553 | OTOG | c.6449T>C (p.Val2150Ala) c.6413T>C (p.Val2138Ala) c.3467T>C (p.Val1156Ala) | gnomAD v4 |
11 | g.17612740T>G | CA379804554 | OTOG | c.6449T>G (p.Val2150Gly) c.6413T>G (p.Val2138Gly) c.3467T>G (p.Val1156Gly) | |
11 | g.17612741A>C | CA473305805 | OTOG | c.6450A>C (p.Val2150=) c.6414A>C (p.Val2138=) c.3468A>C (p.Val1156=) | |
11 | g.17612741A>G | CA473305806 | OTOG | c.6450A>G (p.Val2150=) c.6414A>G (p.Val2138=) c.3468A>G (p.Val1156=) | |
11 | g.17612741A>T | CA473305807 | OTOG | c.6450A>T (p.Val2150=) c.6414A>T (p.Val2138=) c.3468A>T (p.Val1156=) | |
11 | g.17612742C>A | CA379804555 | OTOG | c.6451C>A (p.Leu2151Met) c.6415C>A (p.Leu2139Met) c.3469C>A (p.Leu1157Met) | |
11 | g.17612742C>G | CA379804556 | OTOG | c.6451C>G (p.Leu2151Val) c.6415C>G (p.Leu2139Val) c.3469C>G (p.Leu1157Val) | |
11 | g.17612742C>T | CA473305808 | OTOG | c.6451C>T (p.Leu2151=) c.6415C>T (p.Leu2139=) c.3469C>T (p.Leu1157=) | |
11 | g.17612743T>A | CA379804560 | OTOG | c.6452T>A (p.Leu2151Gln) c.6416T>A (p.Leu2139Gln) c.3470T>A (p.Leu1157Gln) | |
11 | g.17612743T>C | CA379804557 | OTOG | c.6452T>C (p.Leu2151Pro) c.6416T>C (p.Leu2139Pro) c.3470T>C (p.Leu1157Pro) | gnomAD v4 |
11 | g.17612743T>G | CA379804558 | OTOG | c.6452T>G (p.Leu2151Arg) c.6416T>G (p.Leu2139Arg) c.3470T>G (p.Leu1157Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612743T= | CA1955233109 | OTOG | c.6452T= (p.Leu2151=) c.6416T= (p.Leu2139=) c.3470T= (p.Leu1157=) | |
11 | g.17612744G>A | CA473305809 | OTOG | c.6453G>A (p.Leu2151=) c.6417G>A (p.Leu2139=) c.3471G>A (p.Leu1157=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612744G>C | CA473305811 | OTOG | c.6453G>C (p.Leu2151=) c.6417G>C (p.Leu2139=) c.3471G>C (p.Leu1157=) | |
11 | g.17612744G= | CA1955233110 | OTOG | c.6453G= (p.Leu2151=) c.6417G= (p.Leu2139=) c.3471G= (p.Leu1157=) | |
11 | g.17612744G>T | CA473305810 | OTOG | c.6453G>T (p.Leu2151=) c.6417G>T (p.Leu2139=) c.3471G>T (p.Leu1157=) | |
11 | g.17612745G>A | CA379804561 | OTOG | c.6454G>A (p.Asp2152Asn) c.6418G>A (p.Asp2140Asn) c.3472G>A (p.Asp1158Asn) | |
11 | g.17612745G>C | CA379804563 | OTOG | c.6454G>C (p.Asp2152His) c.6418G>C (p.Asp2140His) c.3472G>C (p.Asp1158His) | |
11 | g.17612745G>T | CA379804564 | OTOG | c.6454G>T (p.Asp2152Tyr) c.6418G>T (p.Asp2140Tyr) c.3472G>T (p.Asp1158Tyr) | |
11 | g.17612746A= | CA1955233111 | OTOG | c.6455A= (p.Asp2152=) c.6419A= (p.Asp2140=) c.3473A= (p.Asp1158=) | |
11 | g.17612746A>C | CA218478953 | OTOG | c.6455A>C (p.Asp2152Ala) c.6419A>C (p.Asp2140Ala) c.3473A>C (p.Asp1158Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612746A>G | CA379804565 | OTOG | c.6455A>G (p.Asp2152Gly) c.6419A>G (p.Asp2140Gly) c.3473A>G (p.Asp1158Gly) | |
11 | g.17612746A>T | CA379804567 | OTOG | c.6455A>T (p.Asp2152Val) c.6419A>T (p.Asp2140Val) c.3473A>T (p.Asp1158Val) | |
11 | g.17612747C>A | CA379804570 | OTOG | c.6456C>A (p.Asp2152Glu) c.6420C>A (p.Asp2140Glu) c.3474C>A (p.Asp1158Glu) | |
11 | g.17612747C= | CA1955233112 | OTOG | c.6456C= (p.Asp2152=) c.6420C= (p.Asp2140=) c.3474C= (p.Asp1158=) | |
11 | g.17612747C>G | CA218478958 | OTOG | c.6456C>G (p.Asp2152Glu) c.6420C>G (p.Asp2140Glu) c.3474C>G (p.Asp1158Glu) | dbSNP gnomAD v4 |
11 | g.17612747C>T | CA473305812 | OTOG | c.6456C>T (p.Asp2152=) c.6420C>T (p.Asp2140=) c.3474C>T (p.Asp1158=) | |
11 | g.17612748T>A | CA379804572 | OTOG | c.6457T>A (p.Cys2153Ser) c.6421T>A (p.Cys2141Ser) c.3475T>A (p.Cys1159Ser) | gnomAD v4 |
11 | g.17612748T>C | CA379804575 | OTOG | c.6457T>C (p.Cys2153Arg) c.6421T>C (p.Cys2141Arg) c.3475T>C (p.Cys1159Arg) | gnomAD v4 |
11 | g.17612748T>G | CA379804573 | OTOG | c.6457T>G (p.Cys2153Gly) c.6421T>G (p.Cys2141Gly) c.3475T>G (p.Cys1159Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612748T= | CA1955233113 | OTOG | c.6457T= (p.Cys2153=) c.6421T= (p.Cys2141=) c.3475T= (p.Cys1159=) | |
11 | g.17612749G>A | CA379804576 | OTOG | c.6458G>A (p.Cys2153Tyr) c.6422G>A (p.Cys2141Tyr) c.3476G>A (p.Cys1159Tyr) | |
11 | g.17612749G>C | CA379804579 | OTOG | c.6458G>C (p.Cys2153Ser) c.6422G>C (p.Cys2141Ser) c.3476G>C (p.Cys1159Ser) | |
11 | g.17612749G>T | CA379804578 | OTOG | c.6458G>T (p.Cys2153Phe) c.6422G>T (p.Cys2141Phe) c.3476G>T (p.Cys1159Phe) | |
11 | g.17612750C>A | CA379804580 | OTOG | c.6459C>A (p.Cys2153Ter) c.6423C>A (p.Cys2141Ter) c.3477C>A (p.Cys1159Ter) | |
11 | g.17612750C>G | CA379804581 | OTOG | c.6459C>G (p.Cys2153Trp) c.6423C>G (p.Cys2141Trp) c.3477C>G (p.Cys1159Trp) | |
11 | g.17612750C>T | CA473305813 | OTOG | c.6459C>T (p.Cys2153=) c.6423C>T (p.Cys2141=) c.3477C>T (p.Cys1159=) | |
11 | g.17612751A>C | CA379804582 | OTOG | c.6460A>C (p.Lys2154Gln) c.6424A>C (p.Lys2142Gln) c.3478A>C (p.Lys1160Gln) | |
11 | g.17612751A>G | CA379804583 | OTOG | c.6460A>G (p.Lys2154Glu) c.6424A>G (p.Lys2142Glu) c.3478A>G (p.Lys1160Glu) | ClinVar |
11 | g.17612751A>T | CA379804584 | OTOG | c.6460A>T (p.Lys2154Ter) c.6424A>T (p.Lys2142Ter) c.3478A>T (p.Lys1160Ter) | |
11 | g.17612752A= | CA1955233114 | OTOG | c.6461A= (p.Lys2154=) c.6425A= (p.Lys2142=) c.3479A= (p.Lys1160=) | |
11 | g.17612752A>C | CA379804585 | OTOG | c.6461A>C (p.Lys2154Thr) c.6425A>C (p.Lys2142Thr) c.3479A>C (p.Lys1160Thr) | |
11 | g.17612752A>G | CA218478964 | OTOG | c.6461A>G (p.Lys2154Arg) c.6425A>G (p.Lys2142Arg) c.3479A>G (p.Lys1160Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612752A>T | CA379804586 | OTOG | c.6461A>T (p.Lys2154Ile) c.6425A>T (p.Lys2142Ile) c.3479A>T (p.Lys1160Ile) | |
11 | g.17612753A>C | CA379804589 | OTOG | c.6462A>C (p.Lys2154Asn) c.6426A>C (p.Lys2142Asn) c.3480A>C (p.Lys1160Asn) | |
11 | g.17612753A>G | CA473305814 | OTOG | c.6462A>G (p.Lys2154=) c.6426A>G (p.Lys2142=) c.3480A>G (p.Lys1160=) | |
11 | g.17612753A>T | CA379804590 | OTOG | c.6462A>T (p.Lys2154Asn) c.6426A>T (p.Lys2142Asn) c.3480A>T (p.Lys1160Asn) | |
11 | g.17612754A>C | CA379804592 | OTOG | c.6463A>C (p.Ser2155Arg) c.6427A>C (p.Ser2143Arg) c.3481A>C (p.Ser1161Arg) | |
11 | g.17612754A>G | CA379804593 | OTOG | c.6463A>G (p.Ser2155Gly) c.6427A>G (p.Ser2143Gly) c.3481A>G (p.Ser1161Gly) | |
11 | g.17612754A>T | CA379804595 | OTOG | c.6463A>T (p.Ser2155Cys) c.6427A>T (p.Ser2143Cys) c.3481A>T (p.Ser1161Cys) | |
11 | g.17612755del | CA2612686947 | OTOG | c.6464del (p.Ser2155MetfsTer7) c.6428del (p.Ser2143MetfsTer7) c.3482del (p.Ser1161MetfsTer7) | gnomAD v4 |
11 | g.17612755G>A | CA379804601 | OTOG | c.6464G>A (p.Ser2155Asn) c.6428G>A (p.Ser2143Asn) c.3482G>A (p.Ser1161Asn) | gnomAD v4 |
11 | g.17612755G>C | CA379804597 | OTOG | c.6464G>C (p.Ser2155Thr) c.6428G>C (p.Ser2143Thr) c.3482G>C (p.Ser1161Thr) | dbSNP gnomAD v4 |
11 | g.17612755G= | CA1955233115 | OTOG | c.6464G= (p.Ser2155=) c.6428G= (p.Ser2143=) c.3482G= (p.Ser1161=) | |
11 | g.17612755G>T | CA379804599 | OTOG | c.6464G>T (p.Ser2155Ile) c.6428G>T (p.Ser2143Ile) c.3482G>T (p.Ser1161Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612756T>A | CA379804602 | OTOG | c.6465T>A (p.Ser2155Arg) c.6429T>A (p.Ser2143Arg) c.3483T>A (p.Ser1161Arg) | |
11 | g.17612756T>C | CA473305815 | OTOG | c.6465T>C (p.Ser2155=) c.6429T>C (p.Ser2143=) c.3483T>C (p.Ser1161=) | |
11 | g.17612756T>G | CA379804603 | OTOG | c.6465T>G (p.Ser2155Arg) c.6429T>G (p.Ser2143Arg) c.3483T>G (p.Ser1161Arg) | gnomAD v4 |
11 | g.17612757G>A | CA379804605 | OTOG | c.6466G>A (p.Ala2156Thr) c.6430G>A (p.Ala2144Thr) c.3484G>A (p.Ala1162Thr) | |
11 | g.17612757G>C | CA379804607 | OTOG | c.6466G>C (p.Ala2156Pro) c.6430G>C (p.Ala2144Pro) c.3484G>C (p.Ala1162Pro) | |
11 | g.17612757G>T | CA379804609 | OTOG | c.6466G>T (p.Ala2156Ser) c.6430G>T (p.Ala2144Ser) c.3484G>T (p.Ala1162Ser) | |
11 | g.17612758C>A | CA379804610 | OTOG | c.6467C>A (p.Ala2156Asp) c.6431C>A (p.Ala2144Asp) c.3485C>A (p.Ala1162Asp) | |
11 | g.17612758C>G | CA379804612 | OTOG | c.6467C>G (p.Ala2156Gly) c.6431C>G (p.Ala2144Gly) c.3485C>G (p.Ala1162Gly) | |
11 | g.17612758C>T | CA379804613 | OTOG | c.6467C>T (p.Ala2156Val) c.6431C>T (p.Ala2144Val) c.3485C>T (p.Ala1162Val) | gnomAD v4 |
11 | g.17612759C>A | CA473305816 | OTOG | c.6468C>A (p.Ala2156=) c.6432C>A (p.Ala2144=) c.3486C>A (p.Ala1162=) | |
11 | g.17612759C>G | CA473305817 | OTOG | c.6468C>G (p.Ala2156=) c.6432C>G (p.Ala2144=) c.3486C>G (p.Ala1162=) | |
11 | g.17612759C>T | CA473305818 | OTOG | c.6468C>T (p.Ala2156=) c.6432C>T (p.Ala2144=) c.3486C>T (p.Ala1162=) | |
11 | g.17612760A>C | CA379804616 | OTOG | c.6469A>C (p.Asn2157His) c.6433A>C (p.Asn2145His) c.3487A>C (p.Asn1163His) | gnomAD v4 |
11 | g.17612760A>G | CA379804617 | OTOG | c.6469A>G (p.Asn2157Asp) c.6433A>G (p.Asn2145Asp) c.3487A>G (p.Asn1163Asp) | |
11 | g.17612760A>T | CA379804619 | OTOG | c.6469A>T (p.Asn2157Tyr) c.6433A>T (p.Asn2145Tyr) c.3487A>T (p.Asn1163Tyr) | |
11 | g.17612761A= | CA1955233116 | OTOG | c.6470A= (p.Asn2157=) c.6434A= (p.Asn2145=) c.3488A= (p.Asn1163=) | |
11 | g.17612761A>C | CA379804622 | OTOG | c.6470A>C (p.Asn2157Thr) c.6434A>C (p.Asn2145Thr) c.3488A>C (p.Asn1163Thr) | |
11 | g.17612761A>G | CA379804623 | OTOG | c.6470A>G (p.Asn2157Ser) c.6434A>G (p.Asn2145Ser) c.3488A>G (p.Asn1163Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612761A>T | CA379804621 | OTOG | c.6470A>T (p.Asn2157Ile) c.6434A>T (p.Asn2145Ile) c.3488A>T (p.Asn1163Ile) | |
11 | g.17612762C>A | CA379804625 | OTOG | c.6471C>A (p.Asn2157Lys) c.6435C>A (p.Asn2145Lys) c.3489C>A (p.Asn1163Lys) | |
11 | g.17612762C>G | CA379804627 | OTOG | c.6471C>G (p.Asn2157Lys) c.6435C>G (p.Asn2145Lys) c.3489C>G (p.Asn1163Lys) | |
11 | g.17612762C>T | CA473305819 | OTOG | c.6471C>T (p.Asn2157=) c.6435C>T (p.Asn2145=) c.3489C>T (p.Asn1163=) | |
11 | g.17612763C>A | CA379804629 | OTOG | c.6472C>A (p.Leu2158Met) c.6436C>A (p.Leu2146Met) c.3490C>A (p.Leu1164Met) | |
11 | g.17612763C= | CA1955233117 | OTOG | c.6472C= (p.Leu2158=) c.6436C= (p.Leu2146=) c.3490C= (p.Leu1164=) | |
11 | g.17612763C>G | CA379804630 | OTOG | c.6472C>G (p.Leu2158Val) c.6436C>G (p.Leu2146Val) c.3490C>G (p.Leu1164Val) | |
11 | g.17612763C>T | CA473305820 | OTOG | c.6472C>T (p.Leu2158=) c.6436C>T (p.Leu2146=) c.3490C>T (p.Leu1164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612764T>A | CA379804631 | OTOG | c.6473T>A (p.Leu2158Gln) c.6437T>A (p.Leu2146Gln) c.3491T>A (p.Leu1164Gln) | |
11 | g.17612764T>C | CA379804632 | OTOG | c.6473T>C (p.Leu2158Pro) c.6437T>C (p.Leu2146Pro) c.3491T>C (p.Leu1164Pro) | |
11 | g.17612764T>G | CA379804634 | OTOG | c.6473T>G (p.Leu2158Arg) c.6437T>G (p.Leu2146Arg) c.3491T>G (p.Leu1164Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612764T= | CA1955233118 | OTOG | c.6473T= (p.Leu2158=) c.6437T= (p.Leu2146=) c.3491T= (p.Leu1164=) | |
11 | g.17612765G>A | CA473305821 | OTOG | c.6474G>A (p.Leu2158=) c.6438G>A (p.Leu2146=) c.3492G>A (p.Leu1164=) | gnomAD v4 |
11 | g.17612765G>C | CA473305822 | OTOG | c.6474G>C (p.Leu2158=) c.6438G>C (p.Leu2146=) c.3492G>C (p.Leu1164=) | |
11 | g.17612765G>T | CA473305823 | OTOG | c.6474G>T (p.Leu2158=) c.6438G>T (p.Leu2146=) c.3492G>T (p.Leu1164=) | |
11 | g.17612766G>A | CA379804636 | OTOG | c.6474+1G>A (n.6474+1G>A) c.6438+1G>A (n.6438+1G>A) c.3492+1G>A (n.3492+1G>A) | dbSNP gnomAD v4 |
11 | g.17612766G>C | CA379804638 | OTOG | c.6474+1G>C (n.6474+1G>C) c.6438+1G>C (n.6438+1G>C) c.3492+1G>C (n.3492+1G>C) | |
11 | g.17612766G= | CA1955233119 | OTOG | c.6474+1G= (n.6474+1G=) c.6438+1G= (n.6438+1G=) c.3492+1G= (n.3492+1G=) | |
11 | g.17612766G>T | CA379804639 | OTOG | c.6474+1G>T (n.6474+1G>T) c.6438+1G>T (n.6438+1G>T) c.3492+1G>T (n.3492+1G>T) | |
11 | g.17612767T>A | CA379804641 | OTOG | c.6474+2T>A (n.6474+2T>A) c.6438+2T>A (n.6438+2T>A) c.3492+2T>A (n.3492+2T>A) | |
11 | g.17612767T>C | CA379804643 | OTOG | c.6474+2T>C (n.6474+2T>C) c.6438+2T>C (n.6438+2T>C) c.3492+2T>C (n.3492+2T>C) | |
11 | g.17612767T>G | CA379804644 | OTOG | c.6474+2T>G (n.6474+2T>G) c.6438+2T>G (n.6438+2T>G) c.3492+2T>G (n.3492+2T>G) | dbSNP gnomAD v4 |
11 | g.17612767T= | CA1955233120 | OTOG | c.6474+2T= (n.6474+2T=) c.6438+2T= (n.6438+2T=) c.3492+2T= (n.3492+2T=) | |
11 | g.17612768G>A | CA2612686984 | OTOG | c.6474+3G>A (n.6474+3G>A) c.6438+3G>A (n.6438+3G>A) c.3492+3G>A (n.3492+3G>A) | gnomAD v4 |
11 | g.17612768G= | CA1955233121 | OTOG | c.6474+3G= (n.6474+3G=) c.6438+3G= (n.6438+3G=) c.3492+3G= (n.3492+3G=) | |
11 | g.17612768G>T | CA218478971 | OTOG | c.6474+3G>T (n.6474+3G>T) c.6438+3G>T (n.6438+3G>T) c.3492+3G>T (n.3492+3G>T) | dbSNP gnomAD v4 |