Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17553159A>C | CA473516696 | OTOG | c.369A>C (p.Pro123=) c.333A>C (p.Pro111=) c.150A>C (p.Pro50=) n.239A>C | |
11 | g.17553159A>G | CA473516697 | OTOG | c.369A>G (p.Pro123=) c.333A>G (p.Pro111=) c.150A>G (p.Pro50=) n.239A>G | |
11 | g.17553159A>T | CA473516698 | OTOG | c.369A>T (p.Pro123=) c.333A>T (p.Pro111=) c.150A>T (p.Pro50=) n.239A>T | |
11 | g.17553160G>A | CA379810655 | OTOG | c.370G>A (p.Ala124Thr) c.334G>A (p.Ala112Thr) c.151G>A (p.Ala51Thr) n.240G>A | |
11 | g.17553160G>C | CA379810656 | OTOG | c.370G>C (p.Ala124Pro) c.334G>C (p.Ala112Pro) c.151G>C (p.Ala51Pro) n.240G>C | gnomAD v4 |
11 | g.17553160G= | CA1955197613 | OTOG | c.370G= (p.Ala124=) c.334G= (p.Ala112=) c.151G= (p.Ala51=) n.240G= | |
11 | g.17553160G>T | CA379810658 | OTOG | c.370G>T (p.Ala124Ser) c.334G>T (p.Ala112Ser) c.151G>T (p.Ala51Ser) n.240G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553161C>A | CA379810662 | OTOG | c.371C>A (p.Ala124Asp) c.335C>A (p.Ala112Asp) c.152C>A (p.Ala51Asp) n.241C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553161C= | CA1955197614 | OTOG | c.371C= (p.Ala124=) c.335C= (p.Ala112=) c.152C= (p.Ala51=) n.241C= | |
11 | g.17553161C>G | CA10576852 | OTOG | c.371C>G (p.Ala124Gly) c.335C>G (p.Ala112Gly) c.152C>G (p.Ala51Gly) n.241C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553161C>T | CA218489804 | OTOG | c.371C>T (p.Ala124Val) c.335C>T (p.Ala112Val) c.152C>T (p.Ala51Val) n.241C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553162C>A | CA473516699 | OTOG | c.372C>A (p.Ala124=) c.336C>A (p.Ala112=) c.153C>A (p.Ala51=) n.242C>A | |
11 | g.17553162C= | CA1955197615 | OTOG | c.372C= (p.Ala124=) c.336C= (p.Ala112=) c.153C= (p.Ala51=) n.242C= | |
11 | g.17553162C>G | CA218489810 | OTOG | c.372C>G (p.Ala124=) c.336C>G (p.Ala112=) c.153C>G (p.Ala51=) n.242C>G | dbSNP gnomAD v4 |
11 | g.17553162C>T | CA473516700 | OTOG | c.372C>T (p.Ala124=) c.336C>T (p.Ala112=) c.153C>T (p.Ala51=) n.242C>T | gnomAD v4 |
11 | g.17553163T>A | CA379810671 | OTOG | c.373T>A (p.Phe125Ile) c.337T>A (p.Phe113Ile) c.154T>A (p.Phe52Ile) n.243T>A | |
11 | g.17553163T>C | CA379810683 | OTOG | c.373T>C (p.Phe125Leu) c.337T>C (p.Phe113Leu) c.154T>C (p.Phe52Leu) n.243T>C | |
11 | g.17553163T>G | CA379810691 | OTOG | c.373T>G (p.Phe125Val) c.337T>G (p.Phe113Val) c.154T>G (p.Phe52Val) n.243T>G | |
11 | g.17553164T>A | CA379810698 | OTOG | c.374T>A (p.Phe125Tyr) c.338T>A (p.Phe113Tyr) c.155T>A (p.Phe52Tyr) n.244T>A | |
11 | g.17553164T>C | CA379810702 | OTOG | c.374T>C (p.Phe125Ser) c.338T>C (p.Phe113Ser) c.155T>C (p.Phe52Ser) n.244T>C | |
11 | g.17553164T>G | CA218489821 | OTOG | c.374T>G (p.Phe125Cys) c.338T>G (p.Phe113Cys) c.155T>G (p.Phe52Cys) n.244T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553164T= | CA1955197616 | OTOG | c.374T= (p.Phe125=) c.338T= (p.Phe113=) c.155T= (p.Phe52=) n.244T= | |
11 | g.17553165C>A | CA379810707 | OTOG | c.375C>A (p.Phe125Leu) c.339C>A (p.Phe113Leu) c.156C>A (p.Phe52Leu) n.245C>A | |
11 | g.17553165C>G | CA379810705 | OTOG | c.375C>G (p.Phe125Leu) c.339C>G (p.Phe113Leu) c.156C>G (p.Phe52Leu) n.245C>G | |
11 | g.17553165C>T | CA473516701 | OTOG | c.375C>T (p.Phe125=) c.339C>T (p.Phe113=) c.156C>T (p.Phe52=) n.245C>T | gnomAD v4 |
11 | g.17553166T>A | CA379810712 | OTOG | c.376T>A (p.Cys126Ser) c.340T>A (p.Cys114Ser) c.157T>A (p.Cys53Ser) n.246T>A | |
11 | g.17553166T>C | CA379810714 | OTOG | c.376T>C (p.Cys126Arg) c.340T>C (p.Cys114Arg) c.157T>C (p.Cys53Arg) n.246T>C | gnomAD v4 |
11 | g.17553166T>G | CA379810718 | OTOG | c.376T>G (p.Cys126Gly) c.340T>G (p.Cys114Gly) c.157T>G (p.Cys53Gly) n.246T>G | dbSNP gnomAD v4 |
11 | g.17553166T= | CA1955197617 | OTOG | c.376T= (p.Cys126=) c.340T= (p.Cys114=) c.157T= (p.Cys53=) n.246T= | |
11 | g.17553167G>A | CA379810720 | OTOG | c.377G>A (p.Cys126Tyr) c.341G>A (p.Cys114Tyr) c.158G>A (p.Cys53Tyr) n.247G>A | |
11 | g.17553167G>C | CA379810723 | OTOG | c.377G>C (p.Cys126Ser) c.341G>C (p.Cys114Ser) c.158G>C (p.Cys53Ser) n.247G>C | |
11 | g.17553167G>T | CA379810724 | OTOG | c.377G>T (p.Cys126Phe) c.341G>T (p.Cys114Phe) c.158G>T (p.Cys53Phe) n.247G>T | |
11 | g.17553168T>A | CA379810725 | OTOG | c.378T>A (p.Cys126Ter) c.342T>A (p.Cys114Ter) c.159T>A (p.Cys53Ter) n.248T>A | |
11 | g.17553168T>C | CA473516702 | OTOG | c.378T>C (p.Cys126=) c.342T>C (p.Cys114=) c.159T>C (p.Cys53=) n.248T>C | |
11 | g.17553168T>G | CA379810726 | OTOG | c.378T>G (p.Cys126Trp) c.342T>G (p.Cys114Trp) c.159T>G (p.Cys53Trp) n.248T>G | |
11 | g.17553169G>A | CA379810728 | OTOG | c.379G>A (p.Asp127Asn) c.343G>A (p.Asp115Asn) c.160G>A (p.Asp54Asn) n.249G>A | |
11 | g.17553169G>C | CA379810730 | OTOG | c.379G>C (p.Asp127His) c.343G>C (p.Asp115His) c.160G>C (p.Asp54His) n.249G>C | |
11 | g.17553169G>T | CA379810733 | OTOG | c.379G>T (p.Asp127Tyr) c.343G>T (p.Asp115Tyr) c.160G>T (p.Asp54Tyr) n.249G>T | |
11 | g.17553170A>C | CA379810740 | OTOG | c.380A>C (p.Asp127Ala) c.344A>C (p.Asp115Ala) c.161A>C (p.Asp54Ala) n.250A>C | gnomAD v4 |
11 | g.17553170A>G | CA379810735 | OTOG | c.380A>G (p.Asp127Gly) c.344A>G (p.Asp115Gly) c.161A>G (p.Asp54Gly) n.250A>G | |
11 | g.17553170A>T | CA379810737 | OTOG | c.380A>T (p.Asp127Val) c.344A>T (p.Asp115Val) c.161A>T (p.Asp54Val) n.250A>T | |
11 | g.17553171C>A | CA379810743 | OTOG | c.381C>A (p.Asp127Glu) c.345C>A (p.Asp115Glu) c.162C>A (p.Asp54Glu) n.251C>A | |
11 | g.17553171C>G | CA379810745 | OTOG | c.381C>G (p.Asp127Glu) c.345C>G (p.Asp115Glu) c.162C>G (p.Asp54Glu) n.251C>G | |
11 | g.17553171C>T | CA473516703 | OTOG | c.381C>T (p.Asp127=) c.345C>T (p.Asp115=) c.162C>T (p.Asp54=) n.251C>T | |
11 | g.17553172T>A | CA379810749 | OTOG | c.382T>A (p.Cys128Ser) c.346T>A (p.Cys116Ser) c.163T>A (p.Cys55Ser) n.252T>A | |
11 | g.17553172T>C | CA379810751 | OTOG | c.382T>C (p.Cys128Arg) c.346T>C (p.Cys116Arg) c.163T>C (p.Cys55Arg) n.252T>C | |
11 | g.17553172T>G | CA379810756 | OTOG | c.382T>G (p.Cys128Gly) c.346T>G (p.Cys116Gly) c.163T>G (p.Cys55Gly) n.252T>G | gnomAD v4 |
11 | g.17553173G>A | CA379810759 | OTOG | c.383G>A (p.Cys128Tyr) c.347G>A (p.Cys116Tyr) c.164G>A (p.Cys55Tyr) n.253G>A | |
11 | g.17553173G>C | CA379810761 | OTOG | c.383G>C (p.Cys128Ser) c.347G>C (p.Cys116Ser) c.164G>C (p.Cys55Ser) n.253G>C | |
11 | g.17553173G>T | CA379810764 | OTOG | c.383G>T (p.Cys128Phe) c.347G>T (p.Cys116Phe) c.164G>T (p.Cys55Phe) n.253G>T | |
11 | g.17553174C>A | CA379810768 | OTOG | c.384C>A (p.Cys128Ter) c.348C>A (p.Cys116Ter) c.165C>A (p.Cys55Ter) n.254C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553174C= | CA1955197618 | OTOG | c.384C= (p.Cys128=) c.348C= (p.Cys116=) c.165C= (p.Cys55=) n.254C= | |
11 | g.17553174C>G | CA379810771 | OTOG | c.384C>G (p.Cys128Trp) c.348C>G (p.Cys116Trp) c.165C>G (p.Cys55Trp) n.254C>G | |
11 | g.17553174C>T | CA473516704 | OTOG | c.384C>T (p.Cys128=) c.348C>T (p.Cys116=) c.165C>T (p.Cys55=) n.254C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553175A>C | CA473516705 | OTOG | c.385A>C (p.Arg129=) c.349A>C (p.Arg117=) c.166A>C (p.Arg56=) n.255A>C | |
11 | g.17553175A>G | CA379810775 | OTOG | c.385A>G (p.Arg129Gly) c.349A>G (p.Arg117Gly) c.166A>G (p.Arg56Gly) n.255A>G | |
11 | g.17553175A>T | CA379810778 | OTOG | c.385A>T (p.Arg129Ter) c.349A>T (p.Arg117Ter) c.166A>T (p.Arg56Ter) n.255A>T | |
11 | g.17553176G>A | CA379810785 | OTOG | c.386G>A (p.Arg129Lys) c.350G>A (p.Arg117Lys) c.167G>A (p.Arg56Lys) n.256G>A | |
11 | g.17553176G>C | CA379810786 | OTOG | c.386G>C (p.Arg129Thr) c.350G>C (p.Arg117Thr) c.167G>C (p.Arg56Thr) n.256G>C | |
11 | g.17553176G>T | CA379810782 | OTOG | c.386G>T (p.Arg129Ile) c.350G>T (p.Arg117Ile) c.167G>T (p.Arg56Ile) n.256G>T | |
11 | g.17553177A>C | CA379810787 | OTOG | c.387A>C (p.Arg129Ser) c.351A>C (p.Arg117Ser) c.168A>C (p.Arg56Ser) n.257A>C | |
11 | g.17553177A>G | CA473516706 | OTOG | c.387A>G (p.Arg129=) c.351A>G (p.Arg117=) c.168A>G (p.Arg56=) n.257A>G | |
11 | g.17553177A>T | CA379810788 | OTOG | c.387A>T (p.Arg129Ser) c.351A>T (p.Arg117Ser) c.168A>T (p.Arg56Ser) n.257A>T | |
11 | g.17553178C>A | CA379810790 | OTOG | c.388C>A (p.Arg130Ser) c.352C>A (p.Arg118Ser) c.169C>A (p.Arg57Ser) n.258C>A | gnomAD v4 |
11 | g.17553178C= | CA1955197619 | OTOG | c.388C= (p.Arg130=) c.352C= (p.Arg118=) c.169C= (p.Arg57=) n.258C= | |
11 | g.17553178C>G | CA379810791 | OTOG | c.388C>G (p.Arg130Gly) c.352C>G (p.Arg118Gly) c.169C>G (p.Arg57Gly) n.258C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553178C>T | CA5905339 | OTOG | c.388C>T (p.Arg130Cys) c.352C>T (p.Arg118Cys) c.169C>T (p.Arg57Cys) n.258C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553179G>A | CA218489825 | OTOG | c.389G>A (p.Arg130His) c.353G>A (p.Arg118His) c.170G>A (p.Arg57His) n.259G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553179G>C | CA379810801 | OTOG | c.389G>C (p.Arg130Pro) c.353G>C (p.Arg118Pro) c.170G>C (p.Arg57Pro) n.259G>C | |
11 | g.17553179G= | CA1955197620 | OTOG | c.389G= (p.Arg130=) c.353G= (p.Arg118=) c.170G= (p.Arg57=) n.259G= | |
11 | g.17553179G>T | CA379810804 | OTOG | c.389G>T (p.Arg130Leu) c.353G>T (p.Arg118Leu) c.170G>T (p.Arg57Leu) n.259G>T | gnomAD v4 |
11 | g.17553180C>A | CA473516707 | OTOG | c.390C>A (p.Arg130=) c.354C>A (p.Arg118=) c.171C>A (p.Arg57=) n.260C>A | |
11 | g.17553180C>G | CA473516708 | OTOG | c.390C>G (p.Arg130=) c.354C>G (p.Arg118=) c.171C>G (p.Arg57=) n.260C>G | gnomAD v4 |
11 | g.17553180C>T | CA473516709 | OTOG | c.390C>T (p.Arg130=) c.354C>T (p.Arg118=) c.171C>T (p.Arg57=) n.260C>T | gnomAD v4 |
11 | g.17553181T>A | CA379810810 | OTOG | c.391T>A (p.Phe131Ile) c.355T>A (p.Phe119Ile) c.172T>A (p.Phe58Ile) n.261T>A | |
11 | g.17553181T>C | CA379810812 | OTOG | c.391T>C (p.Phe131Leu) c.355T>C (p.Phe119Leu) c.172T>C (p.Phe58Leu) n.261T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553181T>G | CA379810815 | OTOG | c.391T>G (p.Phe131Val) c.355T>G (p.Phe119Val) c.172T>G (p.Phe58Val) n.261T>G | |
11 | g.17553181T= | CA1955197621 | OTOG | c.391T= (p.Phe131=) c.355T= (p.Phe119=) c.172T= (p.Phe58=) n.261T= | |
11 | g.17553182T>A | CA379810820 | OTOG | c.392T>A (p.Phe131Tyr) c.356T>A (p.Phe119Tyr) c.173T>A (p.Phe58Tyr) n.262T>A | |
11 | g.17553182T>C | CA379810821 | OTOG | c.392T>C (p.Phe131Ser) c.356T>C (p.Phe119Ser) c.173T>C (p.Phe58Ser) n.262T>C | gnomAD v4 |
11 | g.17553182T>G | CA379810825 | OTOG | c.392T>G (p.Phe131Cys) c.356T>G (p.Phe119Cys) c.173T>G (p.Phe58Cys) n.262T>G | |
11 | g.17553183C>A | CA379810830 | OTOG | c.393C>A (p.Phe131Leu) c.357C>A (p.Phe119Leu) c.174C>A (p.Phe58Leu) n.263C>A | |
11 | g.17553183C>G | CA379810831 | OTOG | c.393C>G (p.Phe131Leu) c.357C>G (p.Phe119Leu) c.174C>G (p.Phe58Leu) n.263C>G | |
11 | g.17553183C>T | CA473516710 | OTOG | c.393C>T (p.Phe131=) c.357C>T (p.Phe119=) c.174C>T (p.Phe58=) n.263C>T | COSMIC |
11 | g.17553184A= | CA1955197622 | OTOG | c.394A= (p.Asn132=) c.358A= (p.Asn120=) c.175A= (p.Asn59=) n.264A= | |
11 | g.17553184A>C | CA379810847 | OTOG | c.394A>C (p.Asn132His) c.358A>C (p.Asn120His) c.175A>C (p.Asn59His) n.264A>C | |
11 | g.17553184A>G | CA5905340 | OTOG | c.394A>G (p.Asn132Asp) c.358A>G (p.Asn120Asp) c.175A>G (p.Asn59Asp) n.264A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553184A>T | CA379810853 | OTOG | c.394A>T (p.Asn132Tyr) c.358A>T (p.Asn120Tyr) c.175A>T (p.Asn59Tyr) n.264A>T | |
11 | g.17553185A>C | CA379810859 | OTOG | c.395A>C (p.Asn132Thr) c.359A>C (p.Asn120Thr) c.176A>C (p.Asn59Thr) n.265A>C | |
11 | g.17553185A>G | CA379810863 | OTOG | c.395A>G (p.Asn132Ser) c.359A>G (p.Asn120Ser) c.176A>G (p.Asn59Ser) n.265A>G | |
11 | g.17553185A>T | CA379810866 | OTOG | c.395A>T (p.Asn132Ile) c.359A>T (p.Asn120Ile) c.176A>T (p.Asn59Ile) n.265A>T | |
11 | g.17553186T>A | CA379810867 | OTOG | c.396T>A (p.Asn132Lys) c.360T>A (p.Asn120Lys) c.177T>A (p.Asn59Lys) n.266T>A | |
11 | g.17553186T>C | CA473516711 | OTOG | c.396T>C (p.Asn132=) c.360T>C (p.Asn120=) c.177T>C (p.Asn59=) n.266T>C | |
11 | g.17553186T>G | CA379810875 | OTOG | c.396T>G (p.Asn132Lys) c.360T>G (p.Asn120Lys) c.177T>G (p.Asn59Lys) n.266T>G | |
11 | g.17553187G>A | CA379810877 | OTOG | c.397G>A (p.Ala133Thr) c.361G>A (p.Ala121Thr) c.178G>A (p.Ala60Thr) n.267G>A | |
11 | g.17553187G>C | CA379810880 | OTOG | c.397G>C (p.Ala133Pro) c.361G>C (p.Ala121Pro) c.178G>C (p.Ala60Pro) n.267G>C | |
11 | g.17553187G>T | CA379810882 | OTOG | c.397G>T (p.Ala133Ser) c.361G>T (p.Ala121Ser) c.178G>T (p.Ala60Ser) n.267G>T | |
11 | g.17553188C>A | CA379810886 | OTOG | c.398C>A (p.Ala133Asp) c.362C>A (p.Ala121Asp) c.179C>A (p.Ala60Asp) n.268C>A | |
11 | g.17553188C= | CA1955197623 | OTOG | c.398C= (p.Ala133=) c.362C= (p.Ala121=) c.179C= (p.Ala60=) n.268C= | |
11 | g.17553188C>G | CA379810888 | OTOG | c.398C>G (p.Ala133Gly) c.362C>G (p.Ala121Gly) c.179C>G (p.Ala60Gly) n.268C>G | |
11 | g.17553188C>T | CA379810892 | OTOG | c.398C>T (p.Ala133Val) c.362C>T (p.Ala121Val) c.179C>T (p.Ala60Val) n.268C>T | dbSNP gnomAD v2 |
11 | g.17553189C>A | CA473516712 | OTOG | c.399C>A (p.Ala133=) c.363C>A (p.Ala121=) c.180C>A (p.Ala60=) n.269C>A | |
11 | g.17553189C>G | CA473516714 | OTOG | c.399C>G (p.Ala133=) c.363C>G (p.Ala121=) c.180C>G (p.Ala60=) n.269C>G | |
11 | g.17553189C>T | CA473516713 | OTOG | c.399C>T (p.Ala133=) c.363C>T (p.Ala121=) c.180C>T (p.Ala60=) n.269C>T | |
11 | g.17553190A= | CA1955197624 | OTOG | c.400A= (p.Thr134=) c.364A= (p.Thr122=) c.181A= (p.Thr61=) n.270A= | |
11 | g.17553190A>C | CA379810911 | OTOG | c.400A>C (p.Thr134Pro) c.364A>C (p.Thr122Pro) c.181A>C (p.Thr61Pro) n.270A>C | |
11 | g.17553190A>G | CA218489850 | OTOG | c.400A>G (p.Thr134Ala) c.364A>G (p.Thr122Ala) c.181A>G (p.Thr61Ala) n.270A>G | dbSNP |
11 | g.17553190A>T | CA379810907 | OTOG | c.400A>T (p.Thr134Ser) c.364A>T (p.Thr122Ser) c.181A>T (p.Thr61Ser) n.270A>T | |
11 | g.17553191C>A | CA379810915 | OTOG | c.401C>A (p.Thr134Asn) c.365C>A (p.Thr122Asn) c.182C>A (p.Thr61Asn) n.271C>A | |
11 | g.17553191C= | CA1955197625 | OTOG | c.401C= (p.Thr134=) c.365C= (p.Thr122=) c.182C= (p.Thr61=) n.271C= | |
11 | g.17553191C>G | CA379810913 | OTOG | c.401C>G (p.Thr134Ser) c.365C>G (p.Thr122Ser) c.182C>G (p.Thr61Ser) n.271C>G | |
11 | g.17553191C>T | CA379810918 | OTOG | c.401C>T (p.Thr134Ile) c.365C>T (p.Thr122Ile) c.182C>T (p.Thr61Ile) n.271C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553192T>A | CA473516715 | OTOG | c.402T>A (p.Thr134=) c.366T>A (p.Thr122=) c.183T>A (p.Thr61=) n.272T>A | |
11 | g.17553192T>C | CA473516716 | OTOG | c.402T>C (p.Thr134=) c.366T>C (p.Thr122=) c.183T>C (p.Thr61=) n.272T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553192T>G | CA473516717 | OTOG | c.402T>G (p.Thr134=) c.366T>G (p.Thr122=) c.183T>G (p.Thr61=) n.272T>G | |
11 | g.17553192T= | CA1955197626 | OTOG | c.402T= (p.Thr134=) c.366T= (p.Thr122=) c.183T= (p.Thr61=) n.272T= | |
11 | g.17553193G>A | CA379810922 | OTOG | c.403G>A (p.Gly135Arg) c.367G>A (p.Gly123Arg) c.184G>A (p.Gly62Arg) n.273G>A | |
11 | g.17553193G>C | CA379810924 | OTOG | c.403G>C (p.Gly135Arg) c.367G>C (p.Gly123Arg) c.184G>C (p.Gly62Arg) n.273G>C | |
11 | g.17553193G>T | CA379810926 | OTOG | c.403G>T (p.Gly135Ter) c.367G>T (p.Gly123Ter) c.184G>T (p.Gly62Ter) n.273G>T | gnomAD v4 |
11 | g.17553194G>A | CA5905341 | OTOG | c.404G>A (p.Gly135Glu) c.368G>A (p.Gly123Glu) c.185G>A (p.Gly62Glu) n.274G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553194G>C | CA379810932 | OTOG | c.404G>C (p.Gly135Ala) c.368G>C (p.Gly123Ala) c.185G>C (p.Gly62Ala) n.274G>C | |
11 | g.17553194G= | CA1955197627 | OTOG | c.404G= (p.Gly135=) c.368G= (p.Gly123=) c.185G= (p.Gly62=) n.274G= | |
11 | g.17553194G>T | CA379810934 | OTOG | c.404G>T (p.Gly135Val) c.368G>T (p.Gly123Val) c.185G>T (p.Gly62Val) n.274G>T | |
11 | g.17553195A= | CA1955197628 | OTOG | c.405A= (p.Gly135=) c.369A= (p.Gly123=) c.186A= (p.Gly62=) n.275A= | |
11 | g.17553195A>C | CA473516718 | OTOG | c.405A>C (p.Gly135=) c.369A>C (p.Gly123=) c.186A>C (p.Gly62=) n.275A>C | |
11 | g.17553195A>G | CA473516719 | OTOG | c.405A>G (p.Gly135=) c.369A>G (p.Gly123=) c.186A>G (p.Gly62=) n.275A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553195A>T | CA473516720 | OTOG | c.405A>T (p.Gly135=) c.369A>T (p.Gly123=) c.186A>T (p.Gly62=) n.275A>T | |
11 | g.17553196C>A | CA379810939 | OTOG | c.406C>A (p.Pro136Thr) c.370C>A (p.Pro124Thr) c.187C>A (p.Pro63Thr) n.276C>A | dbSNP gnomAD v2 |
11 | g.17553196C= | CA1955197629 | OTOG | c.406C= (p.Pro136=) c.370C= (p.Pro124=) c.187C= (p.Pro63=) n.276C= | |
11 | g.17553196C>G | CA379810942 | OTOG | c.406C>G (p.Pro136Ala) c.370C>G (p.Pro124Ala) c.187C>G (p.Pro63Ala) n.276C>G | |
11 | g.17553196C>T | CA379810944 | OTOG | c.406C>T (p.Pro136Ser) c.370C>T (p.Pro124Ser) c.187C>T (p.Pro63Ser) n.276C>T | gnomAD v4 |
11 | g.17553197del | CA2612679357 | OTOG | c.407del (p.Pro136ArgfsTer?) c.371del (p.Pro124ArgfsTer?) c.188del (p.Pro63ArgfsTer?) n.277del | gnomAD v4 |
11 | g.17553197C>A | CA379810945 | OTOG | c.407C>A (p.Pro136Gln) c.371C>A (p.Pro124Gln) c.188C>A (p.Pro63Gln) n.277C>A | |
11 | g.17553197C= | CA1955197630 | OTOG | c.407C= (p.Pro136=) c.371C= (p.Pro124=) c.188C= (p.Pro63=) n.277C= | |
11 | g.17553197C>G | CA379810947 | OTOG | c.407C>G (p.Pro136Arg) c.371C>G (p.Pro124Arg) c.188C>G (p.Pro63Arg) n.277C>G | |
11 | g.17553197C>T | CA5905342 | OTOG | c.407C>T (p.Pro136Leu) c.371C>T (p.Pro124Leu) c.188C>T (p.Pro63Leu) n.277C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553198G>A | CA5905343 | OTOG | c.408G>A (p.Pro136=) c.372G>A (p.Pro124=) c.189G>A (p.Pro63=) n.278G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553198G>C | CA473516722 | OTOG | c.408G>C (p.Pro136=) c.372G>C (p.Pro124=) c.189G>C (p.Pro63=) n.278G>C | |
11 | g.17553198G= | CA1955197631 | OTOG | c.408G= (p.Pro136=) c.372G= (p.Pro124=) c.189G= (p.Pro63=) n.278G= | |
11 | g.17553198G>T | CA473516721 | OTOG | c.408G>T (p.Pro136=) c.372G>T (p.Pro124=) c.189G>T (p.Pro63=) n.278G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553199C>A | CA379810954 | OTOG | c.409C>A (p.Arg137Ser) c.373C>A (p.Arg125Ser) c.190C>A (p.Arg64Ser) n.279C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553199C= | CA1955197632 | OTOG | c.409C= (p.Arg137=) c.373C= (p.Arg125=) c.190C= (p.Arg64=) n.279C= | |
11 | g.17553199C>G | CA379810951 | OTOG | c.409C>G (p.Arg137Gly) c.373C>G (p.Arg125Gly) c.190C>G (p.Arg64Gly) n.279C>G | |
11 | g.17553199C>T | CA218489864 | OTOG | c.409C>T (p.Arg137Cys) c.373C>T (p.Arg125Cys) c.190C>T (p.Arg64Cys) n.279C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17553200G>A | CA379810956 | OTOG | c.410G>A (p.Arg137His) c.374G>A (p.Arg125His) c.191G>A (p.Arg64His) n.280G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553200G>C | CA379810958 | OTOG | c.410G>C (p.Arg137Pro) c.374G>C (p.Arg125Pro) c.191G>C (p.Arg64Pro) n.280G>C | |
11 | g.17553200G= | CA1955197633 | OTOG | c.410G= (p.Arg137=) c.374G= (p.Arg125=) c.191G= (p.Arg64=) n.280G= | |
11 | g.17553200G>T | CA379810960 | OTOG | c.410G>T (p.Arg137Leu) c.374G>T (p.Arg125Leu) c.191G>T (p.Arg64Leu) n.280G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553200dup | CA2612679363 | OTOG | c.410dup (p.Cys138LeufsTer10) c.374dup (p.Cys126LeufsTer10) c.191dup (p.Cys65LeufsTer10) n.280dup | gnomAD v4 |
11 | g.17553201C>A | CA473516723 | OTOG | c.411C>A (p.Arg137=) c.375C>A (p.Arg125=) c.192C>A (p.Arg64=) n.281C>A | |
11 | g.17553201C>G | CA473516724 | OTOG | c.411C>G (p.Arg137=) c.375C>G (p.Arg125=) c.192C>G (p.Arg64=) n.281C>G | |
11 | g.17553201C>T | CA473516725 | OTOG | c.411C>T (p.Arg137=) c.375C>T (p.Arg125=) c.192C>T (p.Arg64=) n.281C>T | |
11 | g.17553202T>A | CA379810962 | OTOG | c.412T>A (p.Cys138Ser) c.376T>A (p.Cys126Ser) c.193T>A (p.Cys65Ser) n.282T>A | |
11 | g.17553202T>C | CA379810964 | OTOG | c.412T>C (p.Cys138Arg) c.376T>C (p.Cys126Arg) c.193T>C (p.Cys65Arg) n.282T>C | |
11 | g.17553202T>G | CA379810966 | OTOG | c.412T>G (p.Cys138Gly) c.376T>G (p.Cys126Gly) c.193T>G (p.Cys65Gly) n.282T>G | |
11 | g.17553203G>A | CA379810968 | OTOG | c.413G>A (p.Cys138Tyr) c.377G>A (p.Cys126Tyr) c.194G>A (p.Cys65Tyr) n.283G>A | gnomAD v4 |
11 | g.17553203G>C | CA379810970 | OTOG | c.413G>C (p.Cys138Ser) c.377G>C (p.Cys126Ser) c.194G>C (p.Cys65Ser) n.283G>C | |
11 | g.17553203G>T | CA379810972 | OTOG | c.413G>T (p.Cys138Phe) c.377G>T (p.Cys126Phe) c.194G>T (p.Cys65Phe) n.283G>T | gnomAD v4 |
11 | g.17553204C>A | CA379810973 | OTOG | c.414C>A (p.Cys138Ter) c.378C>A (p.Cys126Ter) c.195C>A (p.Cys65Ter) n.284C>A | gnomAD v4 |
11 | g.17553204C= | CA1955197634 | OTOG | c.414C= (p.Cys138=) c.378C= (p.Cys126=) c.195C= (p.Cys65=) n.284C= | |
11 | g.17553204C>G | CA379810974 | OTOG | c.414C>G (p.Cys138Trp) c.378C>G (p.Cys126Trp) c.195C>G (p.Cys65Trp) n.284C>G | |
11 | g.17553204C>T | CA473516726 | OTOG | c.414C>T (p.Cys138=) c.378C>T (p.Cys126=) c.195C>T (p.Cys65=) n.284C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553205C>A | CA379810977 | OTOG | c.415C>A (p.Gln139Lys) c.379C>A (p.Gln127Lys) c.196C>A (p.Gln66Lys) n.285C>A | |
11 | g.17553205C= | CA1955197635 | OTOG | c.415C= (p.Gln139=) c.379C= (p.Gln127=) c.196C= (p.Gln66=) n.285C= | |
11 | g.17553205C>G | CA379810976 | OTOG | c.415C>G (p.Gln139Glu) c.379C>G (p.Gln127Glu) c.196C>G (p.Gln66Glu) n.285C>G | |
11 | g.17553205C>T | CA379810975 | OTOG | c.415C>T (p.Gln139Ter) c.379C>T (p.Gln127Ter) c.196C>T (p.Gln66Ter) n.285C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17553206A>C | CA379810978 | OTOG | c.416A>C (p.Gln139Pro) c.380A>C (p.Gln127Pro) c.197A>C (p.Gln66Pro) n.286A>C | |
11 | g.17553206A>G | CA379810979 | OTOG | c.416A>G (p.Gln139Arg) c.380A>G (p.Gln127Arg) c.197A>G (p.Gln66Arg) n.286A>G | |
11 | g.17553206A>T | CA379810980 | OTOG | c.416A>T (p.Gln139Leu) c.380A>T (p.Gln127Leu) c.197A>T (p.Gln66Leu) n.286A>T | |
11 | g.17553207G>A | CA473516727 | OTOG | c.417G>A (p.Gln139=) c.381G>A (p.Gln127=) c.198G>A (p.Gln66=) n.287G>A | |
11 | g.17553207G>C | CA379810981 | OTOG | c.417G>C (p.Gln139His) c.381G>C (p.Gln127His) c.198G>C (p.Gln66His) n.287G>C | gnomAD v4 |
11 | g.17553207G= | CA1955197636 | OTOG | c.417G= (p.Gln139=) c.381G= (p.Gln127=) c.198G= (p.Gln66=) n.287G= | |
11 | g.17553207G>T | CA379810982 | OTOG | c.417G>T (p.Gln139His) c.381G>T (p.Gln127His) c.198G>T (p.Gln66His) n.287G>T | |
11 | g.17553207_17553208insT | CA1955197637 | OTOG | c.417_418insT (p.Met140TyrfsTer8) c.381_382insT (p.Met128TyrfsTer8) c.198_199insT (p.Met67TyrfsTer8) n.287_288insT | dbSNP |
11 | g.17553208A= | CA1955197638 | OTOG | c.418A= (p.Met140=) c.382A= (p.Met128=) c.199A= (p.Met67=) n.288A= | |
11 | g.17553208A>C | CA379810985 | OTOG | c.418A>C (p.Met140Leu) c.382A>C (p.Met128Leu) c.199A>C (p.Met67Leu) n.288A>C | |
11 | g.17553208A>G | CA379810984 | OTOG | c.418A>G (p.Met140Val) c.382A>G (p.Met128Val) c.199A>G (p.Met67Val) n.288A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553208A>T | CA379810983 | OTOG | c.418A>T (p.Met140Leu) c.382A>T (p.Met128Leu) c.199A>T (p.Met67Leu) n.288A>T | |
11 | g.17553209T>A | CA379810986 | OTOG | c.419T>A (p.Met140Lys) c.383T>A (p.Met128Lys) c.200T>A (p.Met67Lys) n.289T>A | gnomAD v4 |
11 | g.17553209T>C | CA379810987 | OTOG | c.419T>C (p.Met140Thr) c.383T>C (p.Met128Thr) c.200T>C (p.Met67Thr) n.289T>C | |
11 | g.17553209T>G | CA379810988 | OTOG | c.419T>G (p.Met140Arg) c.383T>G (p.Met128Arg) c.200T>G (p.Met67Arg) n.289T>G | |
11 | g.17553210G>A | CA379810989 | OTOG | c.420G>A (p.Met140Ile) c.384G>A (p.Met128Ile) c.201G>A (p.Met67Ile) n.290G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553210G>C | CA379810990 | OTOG | c.420G>C (p.Met140Ile) c.384G>C (p.Met128Ile) c.201G>C (p.Met67Ile) n.290G>C | |
11 | g.17553210G= | CA1955197639 | OTOG | c.420G= (p.Met140=) c.384G= (p.Met128=) c.201G= (p.Met67=) n.290G= | |
11 | g.17553210G>T | CA379810991 | OTOG | c.420G>T (p.Met140Ile) c.384G>T (p.Met128Ile) c.201G>T (p.Met67Ile) n.290G>T | gnomAD v4 |
11 | g.17553211G>A | CA5905344 | OTOG | c.421G>A (p.Val141Met) c.385G>A (p.Val129Met) c.202G>A (p.Val68Met) n.291G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553211G>C | CA379810993 | OTOG | c.421G>C (p.Val141Leu) c.385G>C (p.Val129Leu) c.202G>C (p.Val68Leu) n.291G>C | |
11 | g.17553211G= | CA1955197640 | OTOG | c.421G= (p.Val141=) c.385G= (p.Val129=) c.202G= (p.Val68=) n.291G= | |
11 | g.17553211G>T | CA379810992 | OTOG | c.421G>T (p.Val141Leu) c.385G>T (p.Val129Leu) c.202G>T (p.Val68Leu) n.291G>T | |
11 | g.17553212G>A | CA379810994 | OTOG | c.421+1G>A (n.421+1G>A) c.385+1G>A (n.385+1G>A) c.202+1G>A (n.202+1G>A) n.291+1G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553212G>C | CA379810995 | OTOG | c.421+1G>C (n.421+1G>C) c.385+1G>C (n.385+1G>C) c.202+1G>C (n.202+1G>C) n.291+1G>C | |
11 | g.17553212G= | CA1955197641 | OTOG | c.421+1G= (n.421+1G=) c.385+1G= (n.385+1G=) c.202+1G= (n.202+1G=) n.291+1G= | |
11 | g.17553212G>T | CA379810996 | OTOG | c.421+1G>T (n.421+1G>T) c.385+1G>T (n.385+1G>T) c.202+1G>T (n.202+1G>T) n.291+1G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553213T>A | CA379810997 | OTOG | c.421+2T>A (n.421+2T>A) c.385+2T>A (n.385+2T>A) c.202+2T>A (n.202+2T>A) n.291+2T>A | gnomAD v4 |
11 | g.17553213T>C | CA379810998 | OTOG | c.421+2T>C (n.421+2T>C) c.385+2T>C (n.385+2T>C) c.202+2T>C (n.202+2T>C) n.291+2T>C | |
11 | g.17553213T>G | CA379810999 | OTOG | c.421+2T>G (n.421+2T>G) c.385+2T>G (n.385+2T>G) c.202+2T>G (n.202+2T>G) n.291+2T>G | |
11 | g.17553214G>A | CA2574770014 | OTOG | c.421+3G>A (n.421+3G>A) c.385+3G>A (n.385+3G>A) c.202+3G>A (n.202+3G>A) n.291+3G>A | |
11 | g.17553215G>T | CA2723297234 | OTOG | c.421+4G>T (n.421+4G>T) c.385+4G>T (n.385+4G>T) c.202+4G>T (n.202+4G>T) n.291+4G>T | dbSNP |
11 | g.17553216G>A | CA597904748 | OTOG | c.421+5G>A (n.421+5G>A) c.385+5G>A (n.385+5G>A) c.202+5G>A (n.202+5G>A) n.291+5G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553216G= | CA1955197642 | OTOG | c.421+5G= (n.421+5G=) c.385+5G= (n.385+5G=) c.202+5G= (n.202+5G=) n.291+5G= | |
11 | g.17553216G>T | CA1955197643 | OTOG | c.421+5G>T (n.421+5G>T) c.385+5G>T (n.385+5G>T) c.202+5G>T (n.202+5G>T) n.291+5G>T | dbSNP gnomAD v4 |
11 | g.17553217T>G | CA1955197645 | OTOG | c.421+6T>G (n.421+6T>G) c.385+6T>G (n.385+6T>G) c.202+6T>G (n.202+6T>G) n.291+6T>G | dbSNP |
11 | g.17553217T= | CA1955197644 | OTOG | c.421+6T= (n.421+6T=) c.385+6T= (n.385+6T=) c.202+6T= (n.202+6T=) n.291+6T= | |
11 | g.17553218C= | CA1955197646 | OTOG | c.421+7C= (n.421+7C=) c.385+7C= (n.385+7C=) c.202+7C= (n.202+7C=) n.291+7C= | |
11 | g.17553218C>G | CA2612679366 | OTOG | c.421+7C>G (n.421+7C>G) c.385+7C>G (n.385+7C>G) c.202+7C>G (n.202+7C>G) n.291+7C>G | gnomAD v4 |
11 | g.17553218C>T | CA5905345 | OTOG | c.421+7C>T (n.421+7C>T) c.385+7C>T (n.385+7C>T) c.202+7C>T (n.202+7C>T) n.291+7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553221G= | CA1955197647 | OTOG | c.421+10G= (n.421+10G=) c.385+10G= (n.385+10G=) c.202+10G= (n.202+10G=) n.291+10G= | |
11 | g.17553221G>T | CA5905346 | OTOG | c.421+10G>T (n.421+10G>T) c.385+10G>T (n.385+10G>T) c.202+10G>T (n.202+10G>T) n.291+10G>T | dbSNP ExAC |
11 | g.17553222G>A | CA2612679367 | OTOG | c.421+11G>A (n.421+11G>A) c.385+11G>A (n.385+11G>A) c.202+11G>A (n.202+11G>A) n.291+11G>A | gnomAD v4 |
11 | g.17553222G>C | CA2612679368 | OTOG | c.421+11G>C (n.421+11G>C) c.385+11G>C (n.385+11G>C) c.202+11G>C (n.202+11G>C) n.291+11G>C | gnomAD v4 |
11 | g.17553222G>T | CA2612679369 | OTOG | c.421+11G>T (n.421+11G>T) c.385+11G>T (n.385+11G>T) c.202+11G>T (n.202+11G>T) n.291+11G>T | gnomAD v4 |
11 | g.17553223C>A | CA2612679370 | OTOG | c.421+12C>A (n.421+12C>A) c.385+12C>A (n.385+12C>A) c.202+12C>A (n.202+12C>A) n.291+12C>A | gnomAD v4 |
11 | g.17553223C>T | CA2612679371 | OTOG | c.421+12C>T (n.421+12C>T) c.385+12C>T (n.385+12C>T) c.202+12C>T (n.202+12C>T) n.291+12C>T | gnomAD v4 |
11 | g.17553224T>A | CA935543239 | OTOG | c.421+13T>A (n.421+13T>A) c.385+13T>A (n.385+13T>A) c.202+13T>A (n.202+13T>A) n.291+13T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553224T= | CA1955197648 | OTOG | c.421+13T= (n.421+13T=) c.385+13T= (n.385+13T=) c.202+13T= (n.202+13T=) n.291+13T= | |
11 | g.17553225C>A | CA2790596439 | OTOG | c.421+14C>A (n.421+14C>A) c.385+14C>A (n.385+14C>A) c.202+14C>A (n.202+14C>A) n.291+14C>A | |
11 | g.17553232_17553236dup | CA674246519 | OTOG | c.421+21_421+25dup (n.421+21_421+25dup) c.385+21_385+25dup (n.385+21_385+25dup) c.202+21_202+25dup (n.202+21_202+25dup) n.291+21_291+25dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553226C= | CA1955197649 | OTOG | c.421+15C= (n.421+15C=) c.385+15C= (n.385+15C=) c.202+15C= (n.202+15C=) n.291+15C= | |
11 | g.17553226C>T | CA674246521 | OTOG | c.421+15C>T (n.421+15C>T) c.385+15C>T (n.385+15C>T) c.202+15C>T (n.202+15C>T) n.291+15C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553227A= | CA1955197650 | OTOG | c.421+16A= (n.421+16A=) c.385+16A= (n.385+16A=) c.202+16A= (n.202+16A=) n.291+16A= | |
11 | g.17553227A>C | CA1955197651 | OTOG | c.421+16A>C (n.421+16A>C) c.385+16A>C (n.385+16A>C) c.202+16A>C (n.202+16A>C) n.291+16A>C | dbSNP |
11 | g.17553227_17553228delinsAC | CA1955197652 | OTOG | c.421+16_421+17delinsAC (n.421+16_421+17delinsAC) c.385+16_385+17delinsAC (n.385+16_385+17delinsAC) c.202+16_202+17delinsAC (n.202+16_202+17delinsAC) n.291+16_291+17delinsAC | |
11 | g.17553228C>A | CA218489869 | OTOG | c.421+17C>A (n.421+17C>A) c.385+17C>A (n.385+17C>A) c.202+17C>A (n.202+17C>A) n.291+17C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553228C= | CA1955197654 | OTOG | c.421+17C= (n.421+17C=) c.385+17C= (n.385+17C=) c.202+17C= (n.202+17C=) n.291+17C= | |
11 | g.17553228C>T | CA2612679372 | OTOG | c.421+17C>T (n.421+17C>T) c.385+17C>T (n.385+17C>T) c.202+17C>T (n.202+17C>T) n.291+17C>T | gnomAD v4 |
11 | g.17553231del | CA1955197653 | OTOG | c.421+20del (n.421+20del) c.385+20del (n.385+20del) c.202+20del (n.202+20del) n.291+20del | dbSNP gnomAD v4 |
11 | g.17553229C>A | CA2612679373 | OTOG | c.421+18C>A (n.421+18C>A) c.385+18C>A (n.385+18C>A) c.202+18C>A (n.202+18C>A) n.291+18C>A | gnomAD v4 |
11 | g.17553229C= | CA1955197655 | OTOG | c.421+18C= (n.421+18C=) c.385+18C= (n.385+18C=) c.202+18C= (n.202+18C=) n.291+18C= | |
11 | g.17553229C>T | CA218489871 | OTOG | c.421+18C>T (n.421+18C>T) c.385+18C>T (n.385+18C>T) c.202+18C>T (n.202+18C>T) n.291+18C>T | dbSNP gnomAD v4 |
11 | g.17553230C>A | CA2612679374 | OTOG | c.421+19C>A (n.421+19C>A) c.385+19C>A (n.385+19C>A) c.202+19C>A (n.202+19C>A) n.291+19C>A | gnomAD v4 |
11 | g.17553230C= | CA1955197656 | OTOG | c.421+19C= (n.421+19C=) c.385+19C= (n.385+19C=) c.202+19C= (n.202+19C=) n.291+19C= | |
11 | g.17553230C>T | CA674246526 | OTOG | c.421+19C>T (n.421+19C>T) c.385+19C>T (n.385+19C>T) c.202+19C>T (n.202+19C>T) n.291+19C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553231C= | CA1955197657 | OTOG | c.421+20C= (n.421+20C=) c.385+20C= (n.385+20C=) c.202+20C= (n.202+20C=) n.291+20C= | |
11 | g.17553231C>G | CA597904749 | OTOG | c.421+20C>G (n.421+20C>G) c.385+20C>G (n.385+20C>G) c.202+20C>G (n.202+20C>G) n.291+20C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553231C>T | CA2612679375 | OTOG | c.421+20C>T (n.421+20C>T) c.385+20C>T (n.385+20C>T) c.202+20C>T (n.202+20C>T) n.291+20C>T | gnomAD v4 |
11 | g.17553232_17553233delinsAC | CA1955197658 | OTOG | c.421+21_421+22delinsAC (n.421+21_421+22delinsAC) c.385+21_385+22delinsAC (n.385+21_385+22delinsAC) c.202+21_202+22delinsAC (n.202+21_202+22delinsAC) n.291+21_291+22delinsAC | |
11 | g.17553233C>A | CA218489887 | OTOG | c.421+22C>A (n.421+22C>A) c.385+22C>A (n.385+22C>A) c.202+22C>A (n.202+22C>A) n.291+22C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553233C= | CA1955197659 | OTOG | c.421+22C= (n.421+22C=) c.385+22C= (n.385+22C=) c.202+22C= (n.202+22C=) n.291+22C= | |
11 | g.17553233C>T | CA597904751 | OTOG | c.421+22C>T (n.421+22C>T) c.385+22C>T (n.385+22C>T) c.202+22C>T (n.202+22C>T) n.291+22C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553237dup | CA2790596440 | OTOG | c.421+26dup (n.421+26dup) c.385+26dup (n.385+26dup) c.202+26dup (n.202+26dup) n.291+26dup | |
11 | g.17553237del | CA597904750 | OTOG | c.421+26del (n.421+26del) c.385+26del (n.385+26del) c.202+26del (n.202+26del) n.291+26del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553234C>A | CA597904752 | OTOG | c.421+23C>A (n.421+23C>A) c.385+23C>A (n.385+23C>A) c.202+23C>A (n.202+23C>A) n.291+23C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553234C= | CA1955197660 | OTOG | c.421+23C= (n.421+23C=) c.385+23C= (n.385+23C=) c.202+23C= (n.202+23C=) n.291+23C= | |
11 | g.17553234C>T | CA597904753 | OTOG | c.421+23C>T (n.421+23C>T) c.385+23C>T (n.385+23C>T) c.202+23C>T (n.202+23C>T) n.291+23C>T | dbSNP gnomAD v2 |
11 | g.17553234_17553235insAAACACA | CA2790596441 | OTOG | c.421+23_421+24insAAACACA (n.421+23_421+24insAAACACA) c.385+23_385+24insAAACACA (n.385+23_385+24insAAACACA) c.202+23_202+24insAAACACA (n.202+23_202+24insAAACACA) n.291+23_291+24insAAACACA | |
11 | g.17553235C>A | CA2566326986 | OTOG | c.421+24C>A (n.421+24C>A) c.385+24C>A (n.385+24C>A) c.202+24C>A (n.202+24C>A) n.291+24C>A | gnomAD v4 |
11 | g.17553235C= | CA1955197661 | OTOG | c.421+24C= (n.421+24C=) c.385+24C= (n.385+24C=) c.202+24C= (n.202+24C=) n.291+24C= | |
11 | g.17553235C>G | CA597904754 | OTOG | c.421+24C>G (n.421+24C>G) c.385+24C>G (n.385+24C>G) c.202+24C>G (n.202+24C>G) n.291+24C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553235C>T | CA2612679377 | OTOG | c.421+24C>T (n.421+24C>T) c.385+24C>T (n.385+24C>T) c.202+24C>T (n.202+24C>T) n.291+24C>T | gnomAD v4 |
11 | g.17553236C= | CA1955197662 | OTOG | c.421+25C= (n.421+25C=) c.385+25C= (n.385+25C=) c.202+25C= (n.202+25C=) n.291+25C= | |
11 | g.17553236C>T | CA1955197663 | OTOG | c.421+25C>T (n.421+25C>T) c.385+25C>T (n.385+25C>T) c.202+25C>T (n.202+25C>T) n.291+25C>T | dbSNP gnomAD v4 |
11 | g.17553237C>A | CA2612679378 | OTOG | c.421+26C>A (n.421+26C>A) c.385+26C>A (n.385+26C>A) c.202+26C>A (n.202+26C>A) n.291+26C>A | gnomAD v4 |
11 | g.17553237C= | CA1955197664 | OTOG | c.421+26C= (n.421+26C=) c.385+26C= (n.385+26C=) c.202+26C= (n.202+26C=) n.291+26C= | |
11 | g.17553237C>T | CA597904755 | OTOG | c.421+26C>T (n.421+26C>T) c.385+26C>T (n.385+26C>T) c.202+26C>T (n.202+26C>T) n.291+26C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553238_17553239insACACA | CA2790596442 | OTOG | c.421+27_421+28insACACA (n.421+27_421+28insACACA) c.385+27_385+28insACACA (n.385+27_385+28insACACA) c.202+27_202+28insACACA (n.202+27_202+28insACACA) n.291+27_291+28insACACA | |
11 | g.17553238A= | CA1955197666 | OTOG | c.421+27A= (n.421+27A=) c.385+27A= (n.385+27A=) c.202+27A= (n.202+27A=) n.291+27A= | |
11 | g.17553238A>G | CA1955197667 | OTOG | c.421+27A>G (n.421+27A>G) c.385+27A>G (n.385+27A>G) c.202+27A>G (n.202+27A>G) n.291+27A>G | dbSNP gnomAD v4 |
11 | g.17553238_17553239delinsAG | CA1955197665 | OTOG | c.421+27_421+28delinsAG (n.421+27_421+28delinsAG) c.385+27_385+28delinsAG (n.385+27_385+28delinsAG) c.202+27_202+28delinsAG (n.202+27_202+28delinsAG) n.291+27_291+28delinsAG | |
11 | g.17553239G>A | CA2574770015 | OTOG | c.421+28G>A (n.421+28G>A) c.385+28G>A (n.385+28G>A) c.202+28G>A (n.202+28G>A) n.291+28G>A | |
11 | g.17553240del | CA5905347 | OTOG | c.421+29del (n.421+29del) c.385+29del (n.385+29del) c.202+29del (n.202+29del) n.291+29del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553240G>A | CA2574770016 | OTOG | c.421+29G>A (n.421+29G>A) c.385+29G>A (n.385+29G>A) c.202+29G>A (n.202+29G>A) n.291+29G>A | |
11 | g.17553241A= | CA1955197668 | OTOG | c.421+30A= (n.421+30A=) c.385+30A= (n.385+30A=) c.202+30A= (n.202+30A=) n.291+30A= | |
11 | g.17553241A>G | CA218489901 | OTOG | c.421+30A>G (n.421+30A>G) c.385+30A>G (n.385+30A>G) c.202+30A>G (n.202+30A>G) n.291+30A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553243_17553246del | CA2612679379 | OTOG | c.421+32_421+35del (n.421+32_421+35del) c.385+32_385+35del (n.385+32_385+35del) c.202+32_202+35del (n.202+32_202+35del) n.291+32_291+35del | gnomAD v4 |
11 | g.17553243G>A | CA597904756 | OTOG | c.421+32G>A (n.421+32G>A) c.385+32G>A (n.385+32G>A) c.202+32G>A (n.202+32G>A) n.291+32G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553243G= | CA1955197669 | OTOG | c.421+32G= (n.421+32G=) c.385+32G= (n.385+32G=) c.202+32G= (n.202+32G=) n.291+32G= | |
11 | g.17553243G>T | CA2741153371 | OTOG | c.421+32G>T (n.421+32G>T) c.385+32G>T (n.385+32G>T) c.202+32G>T (n.202+32G>T) n.291+32G>T | |
11 | g.17553244G>A | CA597904757 | OTOG | c.421+33G>A (n.421+33G>A) c.385+33G>A (n.385+33G>A) c.202+33G>A (n.202+33G>A) n.291+33G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553244G>C | CA935543263 | OTOG | c.421+33G>C (n.421+33G>C) c.385+33G>C (n.385+33G>C) c.202+33G>C (n.202+33G>C) n.291+33G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553244G= | CA1955197670 | OTOG | c.421+33G= (n.421+33G=) c.385+33G= (n.385+33G=) c.202+33G= (n.202+33G=) n.291+33G= | |
11 | g.17553244G>T | CA935543272 | OTOG | c.421+33G>T (n.421+33G>T) c.385+33G>T (n.385+33G>T) c.202+33G>T (n.202+33G>T) n.291+33G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553245G>A | CA1955197672 | OTOG | c.421+34G>A (n.421+34G>A) c.385+34G>A (n.385+34G>A) c.202+34G>A (n.202+34G>A) n.291+34G>A | dbSNP |
11 | g.17553245G>C | CA2612679380 | OTOG | c.421+34G>C (n.421+34G>C) c.385+34G>C (n.385+34G>C) c.202+34G>C (n.202+34G>C) n.291+34G>C | gnomAD v4 |
11 | g.17553245G= | CA1955197671 | OTOG | c.421+34G= (n.421+34G=) c.385+34G= (n.385+34G=) c.202+34G= (n.202+34G=) n.291+34G= | |
11 | g.17553245G>T | CA597904758 | OTOG | c.421+34G>T (n.421+34G>T) c.385+34G>T (n.385+34G>T) c.202+34G>T (n.202+34G>T) n.291+34G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553246A>G | CA2612679381 | OTOG | c.421+35A>G (n.421+35A>G) c.385+35A>G (n.385+35A>G) c.202+35A>G (n.202+35A>G) n.291+35A>G | gnomAD v4 |
11 | g.17553247C>A | CA2612679382 | OTOG | c.421+36C>A (n.421+36C>A) c.385+36C>A (n.385+36C>A) c.202+36C>A (n.202+36C>A) n.291+36C>A | gnomAD v4 |
11 | g.17553247C= | CA1955197673 | OTOG | c.421+36C= (n.421+36C=) c.385+36C= (n.385+36C=) c.202+36C= (n.202+36C=) n.291+36C= | |
11 | g.17553247C>T | CA597904759 | OTOG | c.421+36C>T (n.421+36C>T) c.385+36C>T (n.385+36C>T) c.202+36C>T (n.202+36C>T) n.291+36C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553248C>A | CA2612679383 | OTOG | c.421+37C>A (n.421+37C>A) c.385+37C>A (n.385+37C>A) c.202+37C>A (n.202+37C>A) n.291+37C>A | gnomAD v4 |
11 | g.17553248C>G | CA2612679384 | OTOG | c.421+37C>G (n.421+37C>G) c.385+37C>G (n.385+37C>G) c.202+37C>G (n.202+37C>G) n.291+37C>G | gnomAD v4 |
11 | g.17553248C>T | CA2612679385 | OTOG | c.421+37C>T (n.421+37C>T) c.385+37C>T (n.385+37C>T) c.202+37C>T (n.202+37C>T) n.291+37C>T | gnomAD v4 |
11 | g.17553250G= | CA1955197674 | OTOG | c.421+39G= (n.421+39G=) c.385+39G= (n.385+39G=) c.202+39G= (n.202+39G=) n.291+39G= | |
11 | g.17553250G>T | CA597904760 | OTOG | c.421+39G>T (n.421+39G>T) c.385+39G>T (n.385+39G>T) c.202+39G>T (n.202+39G>T) n.291+39G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553251G>A | CA597904761 | OTOG | c.421+40G>A (n.421+40G>A) c.385+40G>A (n.385+40G>A) c.202+40G>A (n.202+40G>A) n.291+40G>A | dbSNP gnomAD v2 |
11 | g.17553251G= | CA1955197675 | OTOG | c.421+40G= (n.421+40G=) c.385+40G= (n.385+40G=) c.202+40G= (n.202+40G=) n.291+40G= | |
11 | g.17553252G>A | CA2612679387 | OTOG | c.421+41G>A (n.421+41G>A) c.385+41G>A (n.385+41G>A) c.202+41G>A (n.202+41G>A) n.291+41G>A | gnomAD v4 |
11 | g.17553253T>A | CA2574770017 | OTOG | c.421+42T>A (n.421+42T>A) c.385+42T>A (n.385+42T>A) c.202+42T>A (n.202+42T>A) n.291+42T>A | gnomAD v4 |
11 | g.17553253T>G | CA597904762 | OTOG | c.421+42T>G (n.421+42T>G) c.385+42T>G (n.385+42T>G) c.202+42T>G (n.202+42T>G) n.291+42T>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553253T= | CA1955197676 | OTOG | c.421+42T= (n.421+42T=) c.385+42T= (n.385+42T=) c.202+42T= (n.202+42T=) n.291+42T= | |
11 | g.17553254G>A | CA218489909 | OTOG | c.421+43G>A (n.421+43G>A) c.385+43G>A (n.385+43G>A) c.202+43G>A (n.202+43G>A) n.291+43G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553254G= | CA1955197677 | OTOG | c.421+43G= (n.421+43G=) c.385+43G= (n.385+43G=) c.202+43G= (n.202+43G=) n.291+43G= | |
11 | g.17553254G>T | CA2612679388 | OTOG | c.421+43G>T (n.421+43G>T) c.385+43G>T (n.385+43G>T) c.202+43G>T (n.202+43G>T) n.291+43G>T | gnomAD v4 |
11 | g.17553256A= | CA1955197678 | OTOG | c.421+45A= (n.421+45A=) c.385+45A= (n.385+45A=) c.202+45A= (n.202+45A=) n.291+45A= | |
11 | g.17553256A>G | CA597904763 | OTOG | c.421+45A>G (n.421+45A>G) c.385+45A>G (n.385+45A>G) c.202+45A>G (n.202+45A>G) n.291+45A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553256_17553257delinsAG | CA1955197679 | OTOG | c.421+45_421+46delinsAG (n.421+45_421+46delinsAG) c.385+45_385+46delinsAG (n.385+45_385+46delinsAG) c.202+45_202+46delinsAG (n.202+45_202+46delinsAG) n.291+45_291+46delinsAG | |
11 | g.17553257G>A | CA597904765 | OTOG | c.421+46G>A (n.421+46G>A) c.385+46G>A (n.385+46G>A) c.202+46G>A (n.202+46G>A) n.291+46G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553257G= | CA1955197680 | OTOG | c.421+46G= (n.421+46G=) c.385+46G= (n.385+46G=) c.202+46G= (n.202+46G=) n.291+46G= | |
11 | g.17553259del | CA597904764 | OTOG | c.421+48del (n.421+48del) c.385+48del (n.385+48del) c.202+48del (n.202+48del) n.291+48del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553258G>A | CA2612679391 | OTOG | c.421+47G>A (n.421+47G>A) c.385+47G>A (n.385+47G>A) c.202+47G>A (n.202+47G>A) n.291+47G>A | gnomAD v4 |
11 | g.17553258G>T | CA2612679390 | OTOG | c.421+47G>T (n.421+47G>T) c.385+47G>T (n.385+47G>T) c.202+47G>T (n.202+47G>T) n.291+47G>T | gnomAD v4 |
11 | g.17553259G>A | CA597904766 | OTOG | c.421+48G>A (n.421+48G>A) c.385+48G>A (n.385+48G>A) c.202+48G>A (n.202+48G>A) n.291+48G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553259G= | CA1955197681 | OTOG | c.421+48G= (n.421+48G=) c.385+48G= (n.385+48G=) c.202+48G= (n.202+48G=) n.291+48G= | |
11 | g.17553259G>T | CA2612679392 | OTOG | c.421+48G>T (n.421+48G>T) c.385+48G>T (n.385+48G>T) c.202+48G>T (n.202+48G>T) n.291+48G>T | gnomAD v4 |