Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17612295del | CA2612688145 | OTOG | c.6293del (p.Gly2098ValfsTer21) c.6257del (p.Gly2086ValfsTer21) c.3311del (p.Gly1104ValfsTer21) | gnomAD v4 |
11 | g.17612295G>A | CA379803880 | OTOG | c.6293G>A (p.Gly2098Asp) c.6257G>A (p.Gly2086Asp) c.3311G>A (p.Gly1104Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612295G>C | CA379803881 | OTOG | c.6293G>C (p.Gly2098Ala) c.6257G>C (p.Gly2086Ala) c.3311G>C (p.Gly1104Ala) | |
11 | g.17612295G= | CA1955232871 | OTOG | c.6293G= (p.Gly2098=) c.6257G= (p.Gly2086=) c.3311G= (p.Gly1104=) | |
11 | g.17612295G>T | CA379803882 | OTOG | c.6293G>T (p.Gly2098Val) c.6257G>T (p.Gly2086Val) c.3311G>T (p.Gly1104Val) | gnomAD v4 |
11 | g.17612296T>A | CA473305606 | OTOG | c.6294T>A (p.Gly2098=) c.6258T>A (p.Gly2086=) c.3312T>A (p.Gly1104=) | |
11 | g.17612296T>C | CA473305608 | OTOG | c.6294T>C (p.Gly2098=) c.6258T>C (p.Gly2086=) c.3312T>C (p.Gly1104=) | |
11 | g.17612296T>G | CA473305607 | OTOG | c.6294T>G (p.Gly2098=) c.6258T>G (p.Gly2086=) c.3312T>G (p.Gly1104=) | dbSNP |
11 | g.17612297G>A | CA379803884 | OTOG | c.6295G>A (p.Gly2099Arg) c.6259G>A (p.Gly2087Arg) c.3313G>A (p.Gly1105Arg) | gnomAD v4 |
11 | g.17612297G>C | CA379803886 | OTOG | c.6295G>C (p.Gly2099Arg) c.6259G>C (p.Gly2087Arg) c.3313G>C (p.Gly1105Arg) | |
11 | g.17612297G>T | CA379803885 | OTOG | c.6295G>T (p.Gly2099Trp) c.6259G>T (p.Gly2087Trp) c.3313G>T (p.Gly1105Trp) | gnomAD v4 |
11 | g.17612300del | CA2612688148 | OTOG | c.6298del (p.Asp2100ThrfsTer19) c.6262del (p.Asp2088ThrfsTer19) c.3316del (p.Asp1106ThrfsTer19) | gnomAD v4 |
11 | g.17612297_17612318delinsGGGGACCGCTGCTGCCCACTCT | CA1955232872 | OTOG | c.6295_6316delinsGGGGACCGCTGCTGCCCACTCT (p.Gly2099=) c.6259_6280delinsGGGGACCGCTGCTGCCCACTCT (p.Gly2087=) c.3313_3334delinsGGGGACCGCTGCTGCCCACTCT (p.Gly1105=) | |
11 | g.17612298G>A | CA379803889 | OTOG | c.6296G>A (p.Gly2099Glu) c.6260G>A (p.Gly2087Glu) c.3314G>A (p.Gly1105Glu) | |
11 | g.17612298G>C | CA379803893 | OTOG | c.6296G>C (p.Gly2099Ala) c.6260G>C (p.Gly2087Ala) c.3314G>C (p.Gly1105Ala) | |
11 | g.17612298G>T | CA379803895 | OTOG | c.6296G>T (p.Gly2099Val) c.6260G>T (p.Gly2087Val) c.3314G>T (p.Gly1105Val) | gnomAD v4 |
11 | g.17612302_17612322del | CA597904979 | OTOG | c.6300_6320del (p.Asp2100_Trp2106del) c.6264_6284del (p.Asp2088_Trp2094del) c.3318_3338del (p.Asp1106_Trp1112del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612299G>A | CA473305609 | OTOG | c.6297G>A (p.Gly2099=) c.6261G>A (p.Gly2087=) c.3315G>A (p.Gly1105=) | gnomAD v4 |
11 | g.17612299G>C | CA473305610 | OTOG | c.6297G>C (p.Gly2099=) c.6261G>C (p.Gly2087=) c.3315G>C (p.Gly1105=) | |
11 | g.17612299G>T | CA473305611 | OTOG | c.6297G>T (p.Gly2099=) c.6261G>T (p.Gly2087=) c.3315G>T (p.Gly1105=) | gnomAD v4 |
11 | g.17612300G>A | CA379803902 | OTOG | c.6298G>A (p.Asp2100Asn) c.6262G>A (p.Asp2088Asn) c.3316G>A (p.Asp1106Asn) | gnomAD v4 |
11 | g.17612300G>C | CA379803904 | OTOG | c.6298G>C (p.Asp2100His) c.6262G>C (p.Asp2088His) c.3316G>C (p.Asp1106His) | |
11 | g.17612300G>T | CA379803906 | OTOG | c.6298G>T (p.Asp2100Tyr) c.6262G>T (p.Asp2088Tyr) c.3316G>T (p.Asp1106Tyr) | gnomAD v4 |
11 | g.17612301A>C | CA379803914 | OTOG | c.6299A>C (p.Asp2100Ala) c.6263A>C (p.Asp2088Ala) c.3317A>C (p.Asp1106Ala) | |
11 | g.17612301A>G | CA379803908 | OTOG | c.6299A>G (p.Asp2100Gly) c.6263A>G (p.Asp2088Gly) c.3317A>G (p.Asp1106Gly) | |
11 | g.17612301A>T | CA379803910 | OTOG | c.6299A>T (p.Asp2100Val) c.6263A>T (p.Asp2088Val) c.3317A>T (p.Asp1106Val) | |
11 | g.17612302C>A | CA379803921 | OTOG | c.6300C>A (p.Asp2100Glu) c.6264C>A (p.Asp2088Glu) c.3318C>A (p.Asp1106Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612302C= | CA1955232873 | OTOG | c.6300C= (p.Asp2100=) c.6264C= (p.Asp2088=) c.3318C= (p.Asp1106=) | |
11 | g.17612302C>G | CA379803923 | OTOG | c.6300C>G (p.Asp2100Glu) c.6264C>G (p.Asp2088Glu) c.3318C>G (p.Asp1106Glu) | |
11 | g.17612302C>T | CA473305612 | OTOG | c.6300C>T (p.Asp2100=) c.6264C>T (p.Asp2088=) c.3318C>T (p.Asp1106=) | |
11 | g.17612303C>A | CA379803925 | OTOG | c.6301C>A (p.Arg2101Ser) c.6265C>A (p.Arg2089Ser) c.3319C>A (p.Arg1107Ser) | gnomAD v4 |
11 | g.17612303C= | CA1955232874 | OTOG | c.6301C= (p.Arg2101=) c.6265C= (p.Arg2089=) c.3319C= (p.Arg1107=) | |
11 | g.17612303C>G | CA379803926 | OTOG | c.6301C>G (p.Arg2101Gly) c.6265C>G (p.Arg2089Gly) c.3319C>G (p.Arg1107Gly) | |
11 | g.17612303C>T | CA5906008 | OTOG | c.6301C>T (p.Arg2101Cys) c.6265C>T (p.Arg2089Cys) c.3319C>T (p.Arg1107Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612304G>A | CA379803930 | OTOG | c.6302G>A (p.Arg2101His) c.6266G>A (p.Arg2089His) c.3320G>A (p.Arg1107His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612304G>C | CA379803932 | OTOG | c.6302G>C (p.Arg2101Pro) c.6266G>C (p.Arg2089Pro) c.3320G>C (p.Arg1107Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612304G= | CA1955232875 | OTOG | c.6302G= (p.Arg2101=) c.6266G= (p.Arg2089=) c.3320G= (p.Arg1107=) | |
11 | g.17612304G>T | CA218478313 | OTOG | c.6302G>T (p.Arg2101Leu) c.6266G>T (p.Arg2089Leu) c.3320G>T (p.Arg1107Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612305C>A | CA473305613 | OTOG | c.6303C>A (p.Arg2101=) c.6267C>A (p.Arg2089=) c.3321C>A (p.Arg1107=) | |
11 | g.17612305C>G | CA473305614 | OTOG | c.6303C>G (p.Arg2101=) c.6267C>G (p.Arg2089=) c.3321C>G (p.Arg1107=) | |
11 | g.17612305C>T | CA473305615 | OTOG | c.6303C>T (p.Arg2101=) c.6267C>T (p.Arg2089=) c.3321C>T (p.Arg1107=) | gnomAD v4 |
11 | g.17612306T>A | CA379803935 | OTOG | c.6304T>A (p.Cys2102Ser) c.6268T>A (p.Cys2090Ser) c.3322T>A (p.Cys1108Ser) | |
11 | g.17612306T>C | CA379803936 | OTOG | c.6304T>C (p.Cys2102Arg) c.6268T>C (p.Cys2090Arg) c.3322T>C (p.Cys1108Arg) | |
11 | g.17612306T>G | CA379803939 | OTOG | c.6304T>G (p.Cys2102Gly) c.6268T>G (p.Cys2090Gly) c.3322T>G (p.Cys1108Gly) | |
11 | g.17612307G>A | CA379803942 | OTOG | c.6305G>A (p.Cys2102Tyr) c.6269G>A (p.Cys2090Tyr) c.3323G>A (p.Cys1108Tyr) | dbSNP gnomAD v4 |
11 | g.17612307G>C | CA379803943 | OTOG | c.6305G>C (p.Cys2102Ser) c.6269G>C (p.Cys2090Ser) c.3323G>C (p.Cys1108Ser) | |
11 | g.17612307G= | CA1955232876 | OTOG | c.6305G= (p.Cys2102=) c.6269G= (p.Cys2090=) c.3323G= (p.Cys1108=) | |
11 | g.17612307G>T | CA379803949 | OTOG | c.6305G>T (p.Cys2102Phe) c.6269G>T (p.Cys2090Phe) c.3323G>T (p.Cys1108Phe) | gnomAD v4 |
11 | g.17612308C>A | CA379803953 | OTOG | c.6306C>A (p.Cys2102Ter) c.6270C>A (p.Cys2090Ter) c.3324C>A (p.Cys1108Ter) | |
11 | g.17612308C>G | CA379803956 | OTOG | c.6306C>G (p.Cys2102Trp) c.6270C>G (p.Cys2090Trp) c.3324C>G (p.Cys1108Trp) | |
11 | g.17612308C>T | CA473305616 | OTOG | c.6306C>T (p.Cys2102=) c.6270C>T (p.Cys2090=) c.3324C>T (p.Cys1108=) | gnomAD v4 |
11 | g.17612309T>A | CA379803958 | OTOG | c.6307T>A (p.Cys2103Ser) c.6271T>A (p.Cys2091Ser) c.3325T>A (p.Cys1109Ser) | |
11 | g.17612309T>C | CA379803960 | OTOG | c.6307T>C (p.Cys2103Arg) c.6271T>C (p.Cys2091Arg) c.3325T>C (p.Cys1109Arg) | |
11 | g.17612309T>G | CA379803965 | OTOG | c.6307T>G (p.Cys2103Gly) c.6271T>G (p.Cys2091Gly) c.3325T>G (p.Cys1109Gly) | |
11 | g.17612310G>A | CA379803973 | OTOG | c.6308G>A (p.Cys2103Tyr) c.6272G>A (p.Cys2091Tyr) c.3326G>A (p.Cys1109Tyr) | dbSNP gnomAD v4 |
11 | g.17612310G>C | CA379803976 | OTOG | c.6308G>C (p.Cys2103Ser) c.6272G>C (p.Cys2091Ser) c.3326G>C (p.Cys1109Ser) | |
11 | g.17612310G= | CA1955232877 | OTOG | c.6308G= (p.Cys2103=) c.6272G= (p.Cys2091=) c.3326G= (p.Cys1109=) | |
11 | g.17612310G>T | CA379803968 | OTOG | c.6308G>T (p.Cys2103Phe) c.6272G>T (p.Cys2091Phe) c.3326G>T (p.Cys1109Phe) | gnomAD v4 |
11 | g.17612311C>A | CA379803979 | OTOG | c.6309C>A (p.Cys2103Ter) c.6273C>A (p.Cys2091Ter) c.3327C>A (p.Cys1109Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612311C= | CA1955232878 | OTOG | c.6309C= (p.Cys2103=) c.6273C= (p.Cys2091=) c.3327C= (p.Cys1109=) | |
11 | g.17612311C>G | CA379803977 | OTOG | c.6309C>G (p.Cys2103Trp) c.6273C>G (p.Cys2091Trp) c.3327C>G (p.Cys1109Trp) | |
11 | g.17612311C>T | CA473305617 | OTOG | c.6309C>T (p.Cys2103=) c.6273C>T (p.Cys2091=) c.3327C>T (p.Cys1109=) | gnomAD v4 COSMIC COSMIC |
11 | g.17612312C>A | CA379803980 | OTOG | c.6310C>A (p.Pro2104Thr) c.6274C>A (p.Pro2092Thr) c.3328C>A (p.Pro1110Thr) | gnomAD v4 |
11 | g.17612312C>G | CA379803981 | OTOG | c.6310C>G (p.Pro2104Ala) c.6274C>G (p.Pro2092Ala) c.3328C>G (p.Pro1110Ala) | |
11 | g.17612312C>T | CA379803982 | OTOG | c.6310C>T (p.Pro2104Ser) c.6274C>T (p.Pro2092Ser) c.3328C>T (p.Pro1110Ser) | |
11 | g.17612313C>A | CA379803983 | OTOG | c.6311C>A (p.Pro2104Gln) c.6275C>A (p.Pro2092Gln) c.3329C>A (p.Pro1110Gln) | |
11 | g.17612313C>G | CA379803986 | OTOG | c.6311C>G (p.Pro2104Arg) c.6275C>G (p.Pro2092Arg) c.3329C>G (p.Pro1110Arg) | |
11 | g.17612313C>T | CA379803988 | OTOG | c.6311C>T (p.Pro2104Leu) c.6275C>T (p.Pro2092Leu) c.3329C>T (p.Pro1110Leu) | |
11 | g.17612314A= | CA1955232879 | OTOG | c.6312A= (p.Pro2104=) c.6276A= (p.Pro2092=) c.3330A= (p.Pro1110=) | |
11 | g.17612314A>C | CA473305618 | OTOG | c.6312A>C (p.Pro2104=) c.6276A>C (p.Pro2092=) c.3330A>C (p.Pro1110=) | |
11 | g.17612314A>G | CA473305619 | OTOG | c.6312A>G (p.Pro2104=) c.6276A>G (p.Pro2092=) c.3330A>G (p.Pro1110=) | dbSNP |
11 | g.17612314A>T | CA473305620 | OTOG | c.6312A>T (p.Pro2104=) c.6276A>T (p.Pro2092=) c.3330A>T (p.Pro1110=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612315C>A | CA379803989 | OTOG | c.6313C>A (p.Leu2105Ile) c.6277C>A (p.Leu2093Ile) c.3331C>A (p.Leu1111Ile) | |
11 | g.17612315C= | CA1955232880 | OTOG | c.6313C= (p.Leu2105=) c.6277C= (p.Leu2093=) c.3331C= (p.Leu1111=) | |
11 | g.17612315C>G | CA379803990 | OTOG | c.6313C>G (p.Leu2105Val) c.6277C>G (p.Leu2093Val) c.3331C>G (p.Leu1111Val) | |
11 | g.17612315C>T | CA5906009 | OTOG | c.6313C>T (p.Leu2105Phe) c.6277C>T (p.Leu2093Phe) c.3331C>T (p.Leu1111Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612316T>A | CA379803993 | OTOG | c.6314T>A (p.Leu2105His) c.6278T>A (p.Leu2093His) c.3332T>A (p.Leu1111His) | |
11 | g.17612316T>C | CA379803998 | OTOG | c.6314T>C (p.Leu2105Pro) c.6278T>C (p.Leu2093Pro) c.3332T>C (p.Leu1111Pro) | |
11 | g.17612316T>G | CA379804000 | OTOG | c.6314T>G (p.Leu2105Arg) c.6278T>G (p.Leu2093Arg) c.3332T>G (p.Leu1111Arg) | |
11 | g.17612317C>A | CA218478349 | OTOG | c.6315C>A (p.Leu2105=) c.6279C>A (p.Leu2093=) c.3333C>A (p.Leu1111=) | dbSNP gnomAD v4 |
11 | g.17612317C= | CA1955232881 | OTOG | c.6315C= (p.Leu2105=) c.6279C= (p.Leu2093=) c.3333C= (p.Leu1111=) | |
11 | g.17612317C>G | CA218478351 | OTOG | c.6315C>G (p.Leu2105=) c.6279C>G (p.Leu2093=) c.3333C>G (p.Leu1111=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612317C>T | CA473305621 | OTOG | c.6315C>T (p.Leu2105=) c.6279C>T (p.Leu2093=) c.3333C>T (p.Leu1111=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.17612318T>A | CA379804007 | OTOG | c.6316T>A (p.Trp2106Arg) c.6280T>A (p.Trp2094Arg) c.3334T>A (p.Trp1112Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612318T>C | CA379804005 | OTOG | c.6316T>C (p.Trp2106Arg) c.6280T>C (p.Trp2094Arg) c.3334T>C (p.Trp1112Arg) | gnomAD v4 |
11 | g.17612318T>G | CA379804003 | OTOG | c.6316T>G (p.Trp2106Gly) c.6280T>G (p.Trp2094Gly) c.3334T>G (p.Trp1112Gly) | |
11 | g.17612318T= | CA1955232882 | OTOG | c.6316T= (p.Trp2106=) c.6280T= (p.Trp2094=) c.3334T= (p.Trp1112=) | |
11 | g.17612319G>A | CA379804008 | OTOG | c.6317G>A (p.Trp2106Ter) c.6281G>A (p.Trp2094Ter) c.3335G>A (p.Trp1112Ter) | dbSNP gnomAD v2 |
11 | g.17612319G>C | CA379804009 | OTOG | c.6317G>C (p.Trp2106Ser) c.6281G>C (p.Trp2094Ser) c.3335G>C (p.Trp1112Ser) | |
11 | g.17612319G= | CA1955232883 | OTOG | c.6317G= (p.Trp2106=) c.6281G= (p.Trp2094=) c.3335G= (p.Trp1112=) | |
11 | g.17612319G>T | CA379804013 | OTOG | c.6317G>T (p.Trp2106Leu) c.6281G>T (p.Trp2094Leu) c.3335G>T (p.Trp1112Leu) | gnomAD v4 |
11 | g.17612320G>A | CA379804016 | OTOG | c.6318G>A (p.Trp2106Ter) c.6282G>A (p.Trp2094Ter) c.3336G>A (p.Trp1112Ter) | dbSNP gnomAD v4 |
11 | g.17612320G>C | CA379804018 | OTOG | c.6318G>C (p.Trp2106Cys) c.6282G>C (p.Trp2094Cys) c.3336G>C (p.Trp1112Cys) | |
11 | g.17612320G= | CA1955232884 | OTOG | c.6318G= (p.Trp2106=) c.6282G= (p.Trp2094=) c.3336G= (p.Trp1112=) | |
11 | g.17612320G>T | CA379804021 | OTOG | c.6318G>T (p.Trp2106Cys) c.6282G>T (p.Trp2094Cys) c.3336G>T (p.Trp1112Cys) | gnomAD v4 |
11 | g.17612321G>A | CA379804025 | OTOG | c.6319G>A (p.Glu2107Lys) c.6283G>A (p.Glu2095Lys) c.3337G>A (p.Glu1113Lys) | |
11 | g.17612321G>C | CA379804026 | OTOG | c.6319G>C (p.Glu2107Gln) c.6283G>C (p.Glu2095Gln) c.3337G>C (p.Glu1113Gln) | |
11 | g.17612321G>T | CA379804028 | OTOG | c.6319G>T (p.Glu2107Ter) c.6283G>T (p.Glu2095Ter) c.3337G>T (p.Glu1113Ter) | gnomAD v4 COSMIC |
11 | g.17612322_17612323dup | CA597904980 | OTOG | c.6320_6321dup (p.Cys2108SerfsTer12) c.6284_6285dup (p.Cys2096SerfsTer12) c.3338_3339dup (p.Cys1114SerfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612322_17612325dup | CA674240943 | OTOG | c.6320_6323dup (p.Cys2108Ter) c.6284_6287dup (p.Cys2096Ter) c.3338_3341dup (p.Cys1114Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612322A>C | CA379804030 | OTOG | c.6320A>C (p.Glu2107Ala) c.6284A>C (p.Glu2095Ala) c.3338A>C (p.Glu1113Ala) | |
11 | g.17612322A>G | CA379804032 | OTOG | c.6320A>G (p.Glu2107Gly) c.6284A>G (p.Glu2095Gly) c.3338A>G (p.Glu1113Gly) | |
11 | g.17612322A>T | CA379804033 | OTOG | c.6320A>T (p.Glu2107Val) c.6284A>T (p.Glu2095Val) c.3338A>T (p.Glu1113Val) | |
11 | g.17612323G>A | CA473305622 | OTOG | c.6321G>A (p.Glu2107=) c.6285G>A (p.Glu2095=) c.3339G>A (p.Glu1113=) | |
11 | g.17612323G>C | CA379804041 | OTOG | c.6321G>C (p.Glu2107Asp) c.6285G>C (p.Glu2095Asp) c.3339G>C (p.Glu1113Asp) | |
11 | g.17612323G>T | CA379804042 | OTOG | c.6321G>T (p.Glu2107Asp) c.6285G>T (p.Glu2095Asp) c.3339G>T (p.Glu1113Asp) | gnomAD v4 |
11 | g.17612324T>A | CA379804045 | OTOG | c.6322T>A (p.Cys2108Ser) c.6286T>A (p.Cys2096Ser) c.3340T>A (p.Cys1114Ser) | |
11 | g.17612324T>C | CA379804046 | OTOG | c.6322T>C (p.Cys2108Arg) c.6286T>C (p.Cys2096Arg) c.3340T>C (p.Cys1114Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.17612324T>G | CA379804044 | OTOG | c.6322T>G (p.Cys2108Gly) c.6286T>G (p.Cys2096Gly) c.3340T>G (p.Cys1114Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612324T= | CA1955232885 | OTOG | c.6322T= (p.Cys2108=) c.6286T= (p.Cys2096=) c.3340T= (p.Cys1114=) | |
11 | g.17612325G>A | CA5906010 | OTOG | c.6323G>A (p.Cys2108Tyr) c.6287G>A (p.Cys2096Tyr) c.3341G>A (p.Cys1114Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17612325G>C | CA379804051 | OTOG | c.6323G>C (p.Cys2108Ser) c.6287G>C (p.Cys2096Ser) c.3341G>C (p.Cys1114Ser) | |
11 | g.17612325G= | CA1955232886 | OTOG | c.6323G= (p.Cys2108=) c.6287G= (p.Cys2096=) c.3341G= (p.Cys1114=) | |
11 | g.17612325G>T | CA379804056 | OTOG | c.6323G>T (p.Cys2108Phe) c.6287G>T (p.Cys2096Phe) c.3341G>T (p.Cys1114Phe) | gnomAD v4 |
11 | g.17612325_17612326insCCTGTGAGTCATGGGATCG | CA597904981 | OTOG | c.6323_6324insCCTGTGAGTCATGGGATCG (p.Ala2109LeufsTer2) c.6287_6288insCCTGTGAGTCATGGGATCG (p.Ala2097LeufsTer2) c.3341_3342insCCTGTGAGTCATGGGATCG (p.Ala1115LeufsTer2) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612326T>A | CA379804058 | OTOG | c.6324T>A (p.Cys2108Ter) c.6288T>A (p.Cys2096Ter) c.3342T>A (p.Cys1114Ter) | |
11 | g.17612326T>C | CA473305623 | OTOG | c.6324T>C (p.Cys2108=) c.6288T>C (p.Cys2096=) c.3342T>C (p.Cys1114=) | |
11 | g.17612326T>G | CA379804059 | OTOG | c.6324T>G (p.Cys2108Trp) c.6288T>G (p.Cys2096Trp) c.3342T>G (p.Cys1114Trp) | |
11 | g.17612327G>A | CA379804094 | OTOG | c.6325G>A (p.Ala2109Thr) c.6289G>A (p.Ala2097Thr) c.3343G>A (p.Ala1115Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612327G>C | CA379804065 | OTOG | c.6325G>C (p.Ala2109Pro) c.6289G>C (p.Ala2097Pro) c.3343G>C (p.Ala1115Pro) | |
11 | g.17612327G= | CA1955232887 | OTOG | c.6325G= (p.Ala2109=) c.6289G= (p.Ala2097=) c.3343G= (p.Ala1115=) | |
11 | g.17612327G>T | CA379804062 | OTOG | c.6325G>T (p.Ala2109Ser) c.6289G>T (p.Ala2097Ser) c.3343G>T (p.Ala1115Ser) | gnomAD v4 |
11 | g.17612328C>A | CA379804097 | OTOG | c.6326C>A (p.Ala2109Asp) c.6290C>A (p.Ala2097Asp) c.3344C>A (p.Ala1115Asp) | |
11 | g.17612328C>G | CA379804101 | OTOG | c.6326C>G (p.Ala2109Gly) c.6290C>G (p.Ala2097Gly) c.3344C>G (p.Ala1115Gly) | |
11 | g.17612328C>T | CA379804102 | OTOG | c.6326C>T (p.Ala2109Val) c.6290C>T (p.Ala2097Val) c.3344C>T (p.Ala1115Val) | gnomAD v4 |
11 | g.17612329C>A | CA473305624 | OTOG | c.6327C>A (p.Ala2109=) c.6291C>A (p.Ala2097=) c.3345C>A (p.Ala1115=) | |
11 | g.17612329C>G | CA473305625 | OTOG | c.6327C>G (p.Ala2109=) c.6291C>G (p.Ala2097=) c.3345C>G (p.Ala1115=) | |
11 | g.17612329C>T | CA473305626 | OTOG | c.6327C>T (p.Ala2109=) c.6291C>T (p.Ala2097=) c.3345C>T (p.Ala1115=) | |
11 | g.17612329_17612331delinsCTG | CA1955232888 | OTOG | c.6327_6328+1delinsCTG c.6291_6292+1delinsCTG c.3345_3346+1delinsCTG | |
11 | g.17612330T>A | CA379804108 | OTOG | c.6328T>A (p.Cys2110Ser) c.6292T>A (p.Cys2098Ser) c.3346T>A (p.Cys1116Ser) | |
11 | g.17612330T>C | CA379804109 | OTOG | c.6328T>C (p.Cys2110Arg) c.6292T>C (p.Cys2098Arg) c.3346T>C (p.Cys1116Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612330T>G | CA379804110 | OTOG | c.6328T>G (p.Cys2110Gly) c.6292T>G (p.Cys2098Gly) c.3346T>G (p.Cys1116Gly) | |
11 | g.17612330T= | CA1955232889 | OTOG | c.6328T= (p.Cys2110=) c.6292T= (p.Cys2098=) c.3346T= (p.Cys1116=) | |
11 | g.17612332_17612333del | CA597904982 | OTOG | c.6328+2_6328+3del c.6292+2_6292+3del c.3346+2_3346+3del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612331G>A | CA218478356 | OTOG | c.6328+1G>A (n.6328+1G>A) c.6292+1G>A (n.6292+1G>A) c.3346+1G>A (n.3346+1G>A) | dbSNP gnomAD v4 |
11 | g.17612331G>C | CA379804112 | OTOG | c.6328+1G>C (n.6328+1G>C) c.6292+1G>C (n.6292+1G>C) c.3346+1G>C (n.3346+1G>C) | |
11 | g.17612331G= | CA1955232890 | OTOG | c.6328+1G= (n.6328+1G=) c.6292+1G= (n.6292+1G=) c.3346+1G= (n.3346+1G=) | |
11 | g.17612331G>T | CA379804111 | OTOG | c.6328+1G>T (n.6328+1G>T) c.6292+1G>T (n.6292+1G>T) c.3346+1G>T (n.3346+1G>T) | gnomAD v4 |
11 | g.17612332T>A | CA379804113 | OTOG | c.6328+2T>A (n.6328+2T>A) c.6292+2T>A (n.6292+2T>A) c.3346+2T>A (n.3346+2T>A) | |
11 | g.17612332T>C | CA379804114 | OTOG | c.6328+2T>C (n.6328+2T>C) c.6292+2T>C (n.6292+2T>C) c.3346+2T>C (n.3346+2T>C) | |
11 | g.17612332T>G | CA379804115 | OTOG | c.6328+2T>G (n.6328+2T>G) c.6292+2T>G (n.6292+2T>G) c.3346+2T>G (n.3346+2T>G) | |
11 | g.17612333G>T | CA2612686388 | OTOG | c.6328+3G>T (n.6328+3G>T) c.6292+3G>T (n.6292+3G>T) c.3346+3G>T (n.3346+3G>T) | gnomAD v4 |
11 | g.17612335G>A | CA2612686389 | OTOG | c.6328+5G>A (n.6328+5G>A) c.6292+5G>A (n.6292+5G>A) c.3346+5G>A (n.3346+5G>A) | gnomAD v4 |
11 | g.17612335G>T | CA2612686392 | OTOG | c.6328+5G>T (n.6328+5G>T) c.6292+5G>T (n.6292+5G>T) c.3346+5G>T (n.3346+5G>T) | gnomAD v4 |
11 | g.17612336T>A | CA2574770872 | OTOG | c.6328+6T>A (n.6328+6T>A) c.6292+6T>A (n.6292+6T>A) c.3346+6T>A (n.3346+6T>A) | |
11 | g.17612336T>C | CA2790597876 | OTOG | c.6328+6T>C (n.6328+6T>C) c.6292+6T>C (n.6292+6T>C) c.3346+6T>C (n.3346+6T>C) | |
11 | g.17612337C>A | CA2612686393 | OTOG | c.6328+7C>A (n.6328+7C>A) c.6292+7C>A (n.6292+7C>A) c.3346+7C>A (n.3346+7C>A) | gnomAD v4 |
11 | g.17612338A= | CA1955232891 | OTOG | c.6328+8A= (n.6328+8A=) c.6292+8A= (n.6292+8A=) c.3346+8A= (n.3346+8A=) | |
11 | g.17612338A>G | CA218478358 | OTOG | c.6328+8A>G (n.6328+8A>G) c.6292+8A>G (n.6292+8A>G) c.3346+8A>G (n.3346+8A>G) | dbSNP |
11 | g.17612339T>A | CA1955232893 | OTOG | c.6328+9T>A (n.6328+9T>A) c.6292+9T>A (n.6292+9T>A) c.3346+9T>A (n.3346+9T>A) | dbSNP gnomAD v4 |
11 | g.17612339T>G | CA597904983 | OTOG | c.6328+9T>G (n.6328+9T>G) c.6292+9T>G (n.6292+9T>G) c.3346+9T>G (n.3346+9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612339T= | CA1955232892 | OTOG | c.6328+9T= (n.6328+9T=) c.6292+9T= (n.6292+9T=) c.3346+9T= (n.3346+9T=) | |
11 | g.17612340G>A | CA935537280 | OTOG | c.6328+10G>A (n.6328+10G>A) c.6292+10G>A (n.6292+10G>A) c.3346+10G>A (n.3346+10G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612340G= | CA1955232894 | OTOG | c.6328+10G= (n.6328+10G=) c.6292+10G= (n.6292+10G=) c.3346+10G= (n.3346+10G=) | |
11 | g.17612340G>T | CA1955232895 | OTOG | c.6328+10G>T (n.6328+10G>T) c.6292+10G>T (n.6292+10G>T) c.3346+10G>T (n.3346+10G>T) | dbSNP gnomAD v4 |
11 | g.17612341G>A | CA2612686398 | OTOG | c.6328+11G>A (n.6328+11G>A) c.6292+11G>A (n.6292+11G>A) c.3346+11G>A (n.3346+11G>A) | gnomAD v4 |
11 | g.17612341G>C | CA1955232897 | OTOG | c.6328+11G>C (n.6328+11G>C) c.6292+11G>C (n.6292+11G>C) c.3346+11G>C (n.3346+11G>C) | dbSNP gnomAD v4 |
11 | g.17612341G= | CA1955232896 | OTOG | c.6328+11G= (n.6328+11G=) c.6292+11G= (n.6292+11G=) c.3346+11G= (n.3346+11G=) | |
11 | g.17612342G>C | CA2574770873 | OTOG | c.6328+12G>C (n.6328+12G>C) c.6292+12G>C (n.6292+12G>C) c.3346+12G>C (n.3346+12G>C) | gnomAD v4 |
11 | g.17612342G>T | CA2612686403 | OTOG | c.6328+12G>T (n.6328+12G>T) c.6292+12G>T (n.6292+12G>T) c.3346+12G>T (n.3346+12G>T) | ClinVar gnomAD v4 |
11 | g.17612344T>G | CA218478380 | OTOG | c.6328+14T>G (n.6328+14T>G) c.6292+14T>G (n.6292+14T>G) c.3346+14T>G (n.3346+14T>G) | dbSNP |
11 | g.17612344T= | CA1955232898 | OTOG | c.6328+14T= (n.6328+14T=) c.6292+14T= (n.6292+14T=) c.3346+14T= (n.3346+14T=) | |
11 | g.17612344_17612345insA | CA218478389 | OTOG | c.6328+14_6328+15insA (n.6328+14_6328+15insA) c.6292+14_6292+15insA (n.6292+14_6292+15insA) c.3346+14_3346+15insA (n.3346+14_3346+15insA) | dbSNP |
11 | g.17612345C>A | CA2612686409 | OTOG | c.6328+15C>A (n.6328+15C>A) c.6292+15C>A (n.6292+15C>A) c.3346+15C>A (n.3346+15C>A) | gnomAD v4 |
11 | g.17612345C= | CA1955232899 | OTOG | c.6328+15C= (n.6328+15C=) c.6292+15C= (n.6292+15C=) c.3346+15C= (n.3346+15C=) | |
11 | g.17612345C>G | CA218478396 | OTOG | c.6328+15C>G (n.6328+15C>G) c.6292+15C>G (n.6292+15C>G) c.3346+15C>G (n.3346+15C>G) | dbSNP gnomAD v4 |
11 | g.17612345C>T | CA2612686406 | OTOG | c.6328+15C>T (n.6328+15C>T) c.6292+15C>T (n.6292+15C>T) c.3346+15C>T (n.3346+15C>T) | gnomAD v4 |
11 | g.17612346A>G | CA2612686412 | OTOG | c.6328+16A>G (n.6328+16A>G) c.6292+16A>G (n.6292+16A>G) c.3346+16A>G (n.3346+16A>G) | gnomAD v4 |
11 | g.17612347G>A | CA1955232901 | OTOG | c.6328+17G>A (n.6328+17G>A) c.6292+17G>A (n.6292+17G>A) c.3346+17G>A (n.3346+17G>A) | dbSNP gnomAD v4 |
11 | g.17612347G= | CA1955232900 | OTOG | c.6328+17G= (n.6328+17G=) c.6292+17G= (n.6292+17G=) c.3346+17G= (n.3346+17G=) | |
11 | g.17612348C>A | CA2612686414 | OTOG | c.6328+18C>A (n.6328+18C>A) c.6292+18C>A (n.6292+18C>A) c.3346+18C>A (n.3346+18C>A) | gnomAD v4 |
11 | g.17612348C= | CA1955232902 | OTOG | c.6328+18C= (n.6328+18C=) c.6292+18C= (n.6292+18C=) c.3346+18C= (n.3346+18C=) | |
11 | g.17612348C>T | CA218478404 | OTOG | c.6328+18C>T (n.6328+18C>T) c.6292+18C>T (n.6292+18C>T) c.3346+18C>T (n.3346+18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612349G>A | CA5906011 | OTOG | c.6328+19G>A (n.6328+19G>A) c.6292+19G>A (n.6292+19G>A) c.3346+19G>A (n.3346+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612349G= | CA1955232903 | OTOG | c.6328+19G= (n.6328+19G=) c.6292+19G= (n.6292+19G=) c.3346+19G= (n.3346+19G=) | |
11 | g.17612350G>T | CA2612686420 | OTOG | c.6328+20G>T (n.6328+20G>T) c.6292+20G>T (n.6292+20G>T) c.3346+20G>T (n.3346+20G>T) | gnomAD v4 |
11 | g.17612351A= | CA1955232904 | OTOG | c.6328+21A= (n.6328+21A=) c.6292+21A= (n.6292+21A=) c.3346+21A= (n.3346+21A=) | |
11 | g.17612351A>C | CA935537281 | OTOG | c.6328+21A>C (n.6328+21A>C) c.6292+21A>C (n.6292+21A>C) c.3346+21A>C (n.3346+21A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612351A>G | CA674240994 | OTOG | c.6328+21A>G (n.6328+21A>G) c.6292+21A>G (n.6292+21A>G) c.3346+21A>G (n.3346+21A>G) | dbSNP |
11 | g.17612353C>A | CA2612686426 | OTOG | c.6328+23C>A (n.6328+23C>A) c.6292+23C>A (n.6292+23C>A) c.3346+23C>A (n.3346+23C>A) | gnomAD v4 |
11 | g.17612353C= | CA1955232905 | OTOG | c.6328+23C= (n.6328+23C=) c.6292+23C= (n.6292+23C=) c.3346+23C= (n.3346+23C=) | |
11 | g.17612353C>G | CA597904984 | OTOG | c.6328+23C>G (n.6328+23C>G) c.6292+23C>G (n.6292+23C>G) c.3346+23C>G (n.3346+23C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612353C>T | CA2574770874 | OTOG | c.6328+23C>T (n.6328+23C>T) c.6292+23C>T (n.6292+23C>T) c.3346+23C>T (n.3346+23C>T) | gnomAD v4 |
11 | g.17612356C= | CA1955232906 | OTOG | c.6328+26C= (n.6328+26C=) c.6292+26C= (n.6292+26C=) c.3346+26C= (n.3346+26C=) | |
11 | g.17612356C>T | CA597904985 | OTOG | c.6328+26C>T (n.6328+26C>T) c.6292+26C>T (n.6292+26C>T) c.3346+26C>T (n.3346+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612357C= | CA1955232907 | OTOG | c.6328+27C= (n.6328+27C=) c.6292+27C= (n.6292+27C=) c.3346+27C= (n.3346+27C=) | |
11 | g.17612357C>T | CA597904986 | OTOG | c.6328+27C>T (n.6328+27C>T) c.6292+27C>T (n.6292+27C>T) c.3346+27C>T (n.3346+27C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612358T>A | CA674241010 | OTOG | c.6328+28T>A (n.6328+28T>A) c.6292+28T>A (n.6292+28T>A) c.3346+28T>A (n.3346+28T>A) | dbSNP gnomAD v4 |
11 | g.17612358T>G | CA2612686434 | OTOG | c.6328+28T>G (n.6328+28T>G) c.6292+28T>G (n.6292+28T>G) c.3346+28T>G (n.3346+28T>G) | gnomAD v4 |
11 | g.17612358T= | CA1955232908 | OTOG | c.6328+28T= (n.6328+28T=) c.6292+28T= (n.6292+28T=) c.3346+28T= (n.3346+28T=) | |
11 | g.17612359G>A | CA2612686443 | OTOG | c.6328+29G>A (n.6328+29G>A) c.6292+29G>A (n.6292+29G>A) c.3346+29G>A (n.3346+29G>A) | gnomAD v4 |
11 | g.17612359G= | CA1955232909 | OTOG | c.6328+29G= (n.6328+29G=) c.6292+29G= (n.6292+29G=) c.3346+29G= (n.3346+29G=) | |
11 | g.17612359G>T | CA597904987 | OTOG | c.6328+29G>T (n.6328+29G>T) c.6292+29G>T (n.6292+29G>T) c.3346+29G>T (n.3346+29G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612360C>A | CA5906012 | OTOG | c.6328+30C>A (n.6328+30C>A) c.6292+30C>A (n.6292+30C>A) c.3346+30C>A (n.3346+30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612360C= | CA1955232910 | OTOG | c.6328+30C= (n.6328+30C=) c.6292+30C= (n.6292+30C=) c.3346+30C= (n.3346+30C=) | |
11 | g.17612361A= | CA1955232911 | OTOG | c.6328+31A= (n.6328+31A=) c.6292+31A= (n.6292+31A=) c.3346+31A= (n.3346+31A=) | |
11 | g.17612361A>C | CA2612686449 | OTOG | c.6328+31A>C (n.6328+31A>C) c.6292+31A>C (n.6292+31A>C) c.3346+31A>C (n.3346+31A>C) | gnomAD v4 |
11 | g.17612361A>G | CA674241018 | OTOG | c.6328+31A>G (n.6328+31A>G) c.6292+31A>G (n.6292+31A>G) c.3346+31A>G (n.3346+31A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612363C>A | CA1955232913 | OTOG | c.6328+33C>A (n.6328+33C>A) c.6292+33C>A (n.6292+33C>A) c.3346+33C>A (n.3346+33C>A) | dbSNP gnomAD v4 |
11 | g.17612363C= | CA1955232912 | OTOG | c.6328+33C= (n.6328+33C=) c.6292+33C= (n.6292+33C=) c.3346+33C= (n.3346+33C=) | |
11 | g.17612363C>T | CA597904988 | OTOG | c.6328+33C>T (n.6328+33C>T) c.6292+33C>T (n.6292+33C>T) c.3346+33C>T (n.3346+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612364C>A | CA2612686455 | OTOG | c.6328+34C>A (n.6328+34C>A) c.6292+34C>A (n.6292+34C>A) c.3346+34C>A (n.3346+34C>A) | gnomAD v4 |
11 | g.17612364C= | CA1955232914 | OTOG | c.6328+34C= (n.6328+34C=) c.6292+34C= (n.6292+34C=) c.3346+34C= (n.3346+34C=) | |
11 | g.17612364C>G | CA597904989 | OTOG | c.6328+34C>G (n.6328+34C>G) c.6292+34C>G (n.6292+34C>G) c.3346+34C>G (n.3346+34C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612364C>T | CA2612686458 | OTOG | c.6328+34C>T (n.6328+34C>T) c.6292+34C>T (n.6292+34C>T) c.3346+34C>T (n.3346+34C>T) | gnomAD v4 |
11 | g.17612365T>A | CA2520288074 | OTOG | c.6328+35T>A (n.6328+35T>A) c.6292+35T>A (n.6292+35T>A) c.3346+35T>A (n.3346+35T>A) | |
11 | g.17612366C= | CA1955232915 | OTOG | c.6328+36C= (n.6328+36C=) c.6292+36C= (n.6292+36C=) c.3346+36C= (n.3346+36C=) | |
11 | g.17612366C>G | CA2612686462 | OTOG | c.6328+36C>G (n.6328+36C>G) c.6292+36C>G (n.6292+36C>G) c.3346+36C>G (n.3346+36C>G) | gnomAD v4 |
11 | g.17612366C>T | CA218478434 | OTOG | c.6328+36C>T (n.6328+36C>T) c.6292+36C>T (n.6292+36C>T) c.3346+36C>T (n.3346+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612367C>A | CA597904990 | OTOG | c.6328+37C>A (n.6328+37C>A) c.6292+37C>A (n.6292+37C>A) c.3346+37C>A (n.3346+37C>A) | dbSNP gnomAD v2 |
11 | g.17612367C= | CA1955232917 | OTOG | c.6328+37C= (n.6328+37C=) c.6292+37C= (n.6292+37C=) c.3346+37C= (n.3346+37C=) | |
11 | g.17612367C>T | CA1955232916 | OTOG | c.6328+37C>T (n.6328+37C>T) c.6292+37C>T (n.6292+37C>T) c.3346+37C>T (n.3346+37C>T) | dbSNP gnomAD v4 |
11 | g.17612368C>A | CA2574770875 | OTOG | c.6328+38C>A (n.6328+38C>A) c.6292+38C>A (n.6292+38C>A) c.3346+38C>A (n.3346+38C>A) | gnomAD v4 |
11 | g.17612368C= | CA1955232918 | OTOG | c.6328+38C= (n.6328+38C=) c.6292+38C= (n.6292+38C=) c.3346+38C= (n.3346+38C=) | |
11 | g.17612368C>G | CA2612686468 | OTOG | c.6328+38C>G (n.6328+38C>G) c.6292+38C>G (n.6292+38C>G) c.3346+38C>G (n.3346+38C>G) | gnomAD v4 |
11 | g.17612368C>T | CA674241055 | OTOG | c.6328+38C>T (n.6328+38C>T) c.6292+38C>T (n.6292+38C>T) c.3346+38C>T (n.3346+38C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612369T>C | CA2612686470 | OTOG | c.6328+39T>C (n.6328+39T>C) c.6292+39T>C (n.6292+39T>C) c.3346+39T>C (n.3346+39T>C) | gnomAD v4 |
11 | g.17612370G>A | CA597904991 | OTOG | c.6328+40G>A (n.6328+40G>A) c.6292+40G>A (n.6292+40G>A) c.3346+40G>A (n.3346+40G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612370G>C | CA2612686477 | OTOG | c.6328+40G>C (n.6328+40G>C) c.6292+40G>C (n.6292+40G>C) c.3346+40G>C (n.3346+40G>C) | gnomAD v4 |
11 | g.17612370G= | CA1955232919 | OTOG | c.6328+40G= (n.6328+40G=) c.6292+40G= (n.6292+40G=) c.3346+40G= (n.3346+40G=) | |
11 | g.17612370G>T | CA2612686478 | OTOG | c.6328+40G>T (n.6328+40G>T) c.6292+40G>T (n.6292+40G>T) c.3346+40G>T (n.3346+40G>T) | gnomAD v4 |
11 | g.17612372A= | CA1955232920 | OTOG | c.6328+42A= (n.6328+42A=) c.6292+42A= (n.6292+42A=) c.3346+42A= (n.3346+42A=) | |
11 | g.17612372A>G | CA935537284 | OTOG | c.6328+42A>G (n.6328+42A>G) c.6292+42A>G (n.6292+42A>G) c.3346+42A>G (n.3346+42A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612374C>A | CA2612686480 | OTOG | c.6328+44C>A (n.6328+44C>A) c.6292+44C>A (n.6292+44C>A) c.3346+44C>A (n.3346+44C>A) | gnomAD v4 |
11 | g.17612374C>T | CA2612686481 | OTOG | c.6328+44C>T (n.6328+44C>T) c.6292+44C>T (n.6292+44C>T) c.3346+44C>T (n.3346+44C>T) | gnomAD v4 |
11 | g.17612375C>A | CA2612686482 | OTOG | c.6328+45C>A (n.6328+45C>A) c.6292+45C>A (n.6292+45C>A) c.3346+45C>A (n.3346+45C>A) | gnomAD v4 |
11 | g.17612377del | CA2574770876 | OTOG | c.6328+47del (n.6328+47del) c.6292+47del (n.6292+47del) c.3346+47del (n.3346+47del) | |
11 | g.17612378A>C | CA2574770877 | OTOG | c.6328+48A>C (n.6328+48A>C) c.6292+48A>C (n.6292+48A>C) c.3346+48A>C (n.3346+48A>C) | |
11 | g.17612378A>G | CA2612686483 | OTOG | c.6328+48A>G (n.6328+48A>G) c.6292+48A>G (n.6292+48A>G) c.3346+48A>G (n.3346+48A>G) | gnomAD v4 |
11 | g.17612378_17612380delinsACC | CA1955232921 | OTOG | c.6328+48_6328+50delinsACC (n.6328+48_6328+50delinsACC) c.6292+48_6292+50delinsACC (n.6292+48_6292+50delinsACC) c.3346+48_3346+50delinsACC (n.3346+48_3346+50delinsACC) | |
11 | g.17612379C= | CA1955232922 | OTOG | c.6328+49C= (n.6328+49C=) c.6292+49C= (n.6292+49C=) c.3346+49C= (n.3346+49C=) | |
11 | g.17612379C>G | CA218478438 | OTOG | c.6328+49C>G (n.6328+49C>G) c.6292+49C>G (n.6292+49C>G) c.3346+49C>G (n.3346+49C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612379C>T | CA1955232923 | OTOG | c.6328+49C>T (n.6328+49C>T) c.6292+49C>T (n.6292+49C>T) c.3346+49C>T (n.3346+49C>T) | dbSNP gnomAD v4 |
11 | g.17612382del | CA2612686489 | OTOG | c.6328+52del (n.6328+52del) c.6292+52del (n.6292+52del) c.3346+52del (n.3346+52del) | gnomAD v4 |
11 | g.17612381_17612382del | CA597904992 | OTOG | c.6328+51_6328+52del (n.6328+51_6328+52del) c.6292+51_6292+52del (n.6292+51_6292+52del) c.3346+51_3346+52del (n.3346+51_3346+52del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612380C>A | CA2612686499 | OTOG | c.6328+50C>A (n.6328+50C>A) c.6292+50C>A (n.6292+50C>A) c.3346+50C>A (n.3346+50C>A) | gnomAD v4 |
11 | g.17612380C= | CA1955232924 | OTOG | c.6328+50C= (n.6328+50C=) c.6292+50C= (n.6292+50C=) c.3346+50C= (n.3346+50C=) | |
11 | g.17612380C>T | CA597904993 | OTOG | c.6328+50C>T (n.6328+50C>T) c.6292+50C>T (n.6292+50C>T) c.3346+50C>T (n.3346+50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612381C>A | CA2612686502 | OTOG | c.6328+51C>A (n.6328+51C>A) c.6292+51C>A (n.6292+51C>A) c.3346+51C>A (n.3346+51C>A) | gnomAD v4 |
11 | g.17612381C= | CA1955232925 | OTOG | c.6328+51C= (n.6328+51C=) c.6292+51C= (n.6292+51C=) c.3346+51C= (n.3346+51C=) | |
11 | g.17612381C>G | CA1955232926 | OTOG | c.6328+51C>G (n.6328+51C>G) c.6292+51C>G (n.6292+51C>G) c.3346+51C>G (n.3346+51C>G) | dbSNP gnomAD v4 |
11 | g.17612381C>T | CA1955232927 | OTOG | c.6328+51C>T (n.6328+51C>T) c.6292+51C>T (n.6292+51C>T) c.3346+51C>T (n.3346+51C>T) | dbSNP gnomAD v4 |
11 | g.17612382C>A | CA2612686506 | OTOG | c.6328+52C>A (n.6328+52C>A) c.6292+52C>A (n.6292+52C>A) c.3346+52C>A (n.3346+52C>A) | gnomAD v4 |
11 | g.17612382C>G | CA2612686505 | OTOG | c.6328+52C>G (n.6328+52C>G) c.6292+52C>G (n.6292+52C>G) c.3346+52C>G (n.3346+52C>G) | gnomAD v4 |
11 | g.17612384G>A | CA13478916 | OTOG | c.6328+54G>A (n.6328+54G>A) c.6292+54G>A (n.6292+54G>A) c.3346+54G>A (n.3346+54G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612384G= | CA1955232928 | OTOG | c.6328+54G= (n.6328+54G=) c.6292+54G= (n.6292+54G=) c.3346+54G= (n.3346+54G=) | |
11 | g.17612385C>A | CA2612686513 | OTOG | c.6328+55C>A (n.6328+55C>A) c.6292+55C>A (n.6292+55C>A) c.3346+55C>A (n.3346+55C>A) | gnomAD v4 |
11 | g.17612385C>T | CA2612686514 | OTOG | c.6328+55C>T (n.6328+55C>T) c.6292+55C>T (n.6292+55C>T) c.3346+55C>T (n.3346+55C>T) | gnomAD v4 |
11 | g.17612386A= | CA1955232929 | OTOG | c.6328+56A= (n.6328+56A=) c.6292+56A= (n.6292+56A=) c.3346+56A= (n.3346+56A=) | |
11 | g.17612386A>G | CA1955232930 | OTOG | c.6328+56A>G (n.6328+56A>G) c.6292+56A>G (n.6292+56A>G) c.3346+56A>G (n.3346+56A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612387T>C | CA2612686519 | OTOG | c.6328+57T>C (n.6328+57T>C) c.6292+57T>C (n.6292+57T>C) c.3346+57T>C (n.3346+57T>C) | gnomAD v4 |
11 | g.17612388G>A | CA2612686520 | OTOG | c.6328+58G>A (n.6328+58G>A) c.6292+58G>A (n.6292+58G>A) c.3346+58G>A (n.3346+58G>A) | gnomAD v4 |
11 | g.17612388G>T | CA2612686521 | OTOG | c.6328+58G>T (n.6328+58G>T) c.6292+58G>T (n.6292+58G>T) c.3346+58G>T (n.3346+58G>T) | gnomAD v4 |
11 | g.17612389A>G | CA2574770878 | OTOG | c.6328+59A>G (n.6328+59A>G) c.6292+59A>G (n.6292+59A>G) c.3346+59A>G (n.3346+59A>G) | |
11 | g.17612390C>A | CA2612686523 | OTOG | c.6328+60C>A (n.6328+60C>A) c.6292+60C>A (n.6292+60C>A) c.3346+60C>A (n.3346+60C>A) | gnomAD v4 |
11 | g.17612390C= | CA1955232931 | OTOG | c.6328+60C= (n.6328+60C=) c.6292+60C= (n.6292+60C=) c.3346+60C= (n.3346+60C=) | |
11 | g.17612390C>G | CA935537298 | OTOG | c.6328+60C>G (n.6328+60C>G) c.6292+60C>G (n.6292+60C>G) c.3346+60C>G (n.3346+60C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612390C>T | CA218478461 | OTOG | c.6328+60C>T (n.6328+60C>T) c.6292+60C>T (n.6292+60C>T) c.3346+60C>T (n.3346+60C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612391C>A | CA2574770879 | OTOG | c.6328+61C>A (n.6328+61C>A) c.6292+61C>A (n.6292+61C>A) c.3346+61C>A (n.3346+61C>A) | gnomAD v4 |
11 | g.17612391C= | CA1955232932 | OTOG | c.6328+61C= (n.6328+61C=) c.6292+61C= (n.6292+61C=) c.3346+61C= (n.3346+61C=) | |
11 | g.17612391C>T | CA218478474 | OTOG | c.6328+61C>T (n.6328+61C>T) c.6292+61C>T (n.6292+61C>T) c.3346+61C>T (n.3346+61C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612392G>A | CA218478498 | OTOG | c.6328+62G>A (n.6328+62G>A) c.6292+62G>A (n.6292+62G>A) c.3346+62G>A (n.3346+62G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612392G= | CA1955232933 | OTOG | c.6328+62G= (n.6328+62G=) c.6292+62G= (n.6292+62G=) c.3346+62G= (n.3346+62G=) | |
11 | g.17612392G>T | CA654624892 | OTOG | c.6328+62G>T (n.6328+62G>T) c.6292+62G>T (n.6292+62G>T) c.3346+62G>T (n.3346+62G>T) | gnomAD v4 COSMIC |
11 | g.17612393C>A | CA2550919833 | OTOG | c.6328+63C>A (n.6328+63C>A) c.6292+63C>A (n.6292+63C>A) c.3346+63C>A (n.3346+63C>A) | gnomAD v4 |
11 | g.17612393C= | CA1955232934 | OTOG | c.6328+63C= (n.6328+63C=) c.6292+63C= (n.6292+63C=) c.3346+63C= (n.3346+63C=) | |
11 | g.17612393C>T | CA935537304 | OTOG | c.6328+63C>T (n.6328+63C>T) c.6292+63C>T (n.6292+63C>T) c.3346+63C>T (n.3346+63C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612394C>A | CA935537306 | OTOG | c.6328+64C>A (n.6328+64C>A) c.6292+64C>A (n.6292+64C>A) c.3346+64C>A (n.3346+64C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612394C= | CA1955232935 | OTOG | c.6328+64C= (n.6328+64C=) c.6292+64C= (n.6292+64C=) c.3346+64C= (n.3346+64C=) | |
11 | g.17612395A>G | CA2574770880 | OTOG | c.6328+65A>G (n.6328+65A>G) c.6292+65A>G (n.6292+65A>G) c.3346+65A>G (n.3346+65A>G) |