Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26463969C>A | CA346133671 | OTOF | c.5098G>T (p.Glu1700Ter) c.2797G>T (p.Glu933Ter) c.2857G>T (p.Glu953Ter) c.3028G>T (p.Glu1010Ter) n.847G>T c.5083G>T (p.Glu1695Ter) c.5143G>T (p.Glu1715Ter) c.5038G>T (p.Glu1680Ter) | gnomAD v4 |
2 | g.26463969C= | CA1239814497 | OTOF | c.5098G= (p.Glu1700=) c.2797G= (p.Glu933=) c.2857G= (p.Glu953=) c.3028G= (p.Glu1010=) n.847G= c.5083G= (p.Glu1695=) c.5143G= (p.Glu1715=) c.5038G= (p.Glu1680=) | |
2 | g.26463969C>G | CA345132 | OTOF | c.5098G>C (p.Glu1700Gln) c.2797G>C (p.Glu933Gln) c.2857G>C (p.Glu953Gln) c.3028G>C (p.Glu1010Gln) n.847G>C c.5083G>C (p.Glu1695Gln) c.5143G>C (p.Glu1715Gln) c.5038G>C (p.Glu1680Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26463969C>T | CA346133674 | OTOF | c.5098G>A (p.Glu1700Lys) c.2797G>A (p.Glu933Lys) c.2857G>A (p.Glu953Lys) c.3028G>A (p.Glu1010Lys) n.847G>A c.5083G>A (p.Glu1695Lys) c.5143G>A (p.Glu1715Lys) c.5038G>A (p.Glu1680Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26463970G>A | CA142923 | OTOF | c.5097C>T (p.Ile1699=) c.2796C>T (p.Ile932=) c.2856C>T (p.Ile952=) c.3027C>T (p.Ile1009=) n.846C>T c.5082C>T (p.Ile1694=) c.5142C>T (p.Ile1714=) c.5037C>T (p.Ile1679=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26463970G>C | CA10614853 | OTOF | c.5097C>G (p.Ile1699Met) c.2796C>G (p.Ile932Met) c.2856C>G (p.Ile952Met) c.3027C>G (p.Ile1009Met) n.846C>G c.5082C>G (p.Ile1694Met) c.5142C>G (p.Ile1714Met) c.5037C>G (p.Ile1679Met) | ClinVar dbSNP |
2 | g.26463970G= | CA1239814504 | OTOF | c.5097C= (p.Ile1699=) c.2796C= (p.Ile932=) c.2856C= (p.Ile952=) c.3027C= (p.Ile1009=) n.846C= c.5082C= (p.Ile1694=) c.5142C= (p.Ile1714=) c.5037C= (p.Ile1679=) | |
2 | g.26463970G>T | CA425207059 | OTOF | c.5097C>A (p.Ile1699=) c.2796C>A (p.Ile932=) c.2856C>A (p.Ile952=) c.3027C>A (p.Ile1009=) n.846C>A c.5082C>A (p.Ile1694=) c.5142C>A (p.Ile1714=) c.5037C>A (p.Ile1679=) | |
2 | g.26463971A= | CA1239814509 | OTOF | c.5096T= (p.Ile1699=) c.2795T= (p.Ile932=) c.2855T= (p.Ile952=) c.3026T= (p.Ile1009=) n.845T= c.5081T= (p.Ile1694=) c.5141T= (p.Ile1714=) c.5036T= (p.Ile1679=) | |
2 | g.26463971A>C | CA346133677 | OTOF | c.5096T>G (p.Ile1699Ser) c.2795T>G (p.Ile932Ser) c.2855T>G (p.Ile952Ser) c.3026T>G (p.Ile1009Ser) n.845T>G c.5081T>G (p.Ile1694Ser) c.5141T>G (p.Ile1714Ser) c.5036T>G (p.Ile1679Ser) | |
2 | g.26463971A>G | CA1562942 | OTOF | c.5096T>C (p.Ile1699Thr) c.2795T>C (p.Ile932Thr) c.2855T>C (p.Ile952Thr) c.3026T>C (p.Ile1009Thr) n.845T>C c.5081T>C (p.Ile1694Thr) c.5141T>C (p.Ile1714Thr) c.5036T>C (p.Ile1679Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26463971A>T | CA346133679 | OTOF | c.5096T>A (p.Ile1699Asn) c.2795T>A (p.Ile932Asn) c.2855T>A (p.Ile952Asn) c.3026T>A (p.Ile1009Asn) n.845T>A c.5081T>A (p.Ile1694Asn) c.5141T>A (p.Ile1714Asn) c.5036T>A (p.Ile1679Asn) | gnomAD v4 |
2 | g.26463972T>A | CA346133684 | OTOF | c.5095A>T (p.Ile1699Phe) c.2794A>T (p.Ile932Phe) c.2854A>T (p.Ile952Phe) c.3025A>T (p.Ile1009Phe) n.844A>T c.5080A>T (p.Ile1694Phe) c.5140A>T (p.Ile1714Phe) c.5035A>T (p.Ile1679Phe) | |
2 | g.26463972T>C | CA346133686 | OTOF | c.5095A>G (p.Ile1699Val) c.2794A>G (p.Ile932Val) c.2854A>G (p.Ile952Val) c.3025A>G (p.Ile1009Val) n.844A>G c.5080A>G (p.Ile1694Val) c.5140A>G (p.Ile1714Val) c.5035A>G (p.Ile1679Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26463972T>G | CA346133696 | OTOF | c.5095A>C (p.Ile1699Leu) c.2794A>C (p.Ile932Leu) c.2854A>C (p.Ile952Leu) c.3025A>C (p.Ile1009Leu) n.844A>C c.5080A>C (p.Ile1694Leu) c.5140A>C (p.Ile1714Leu) c.5035A>C (p.Ile1679Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26463972T= | CA1239814512 | OTOF | c.5095A= (p.Ile1699=) c.2794A= (p.Ile932=) c.2854A= (p.Ile952=) c.3025A= (p.Ile1009=) n.844A= c.5080A= (p.Ile1694=) c.5140A= (p.Ile1714=) c.5035A= (p.Ile1679=) | |
2 | g.26463973G>A | CA425207062 | OTOF | c.5094C>T (p.Gly1698=) c.2793C>T (p.Gly931=) c.2853C>T (p.Gly951=) c.3024C>T (p.Gly1008=) n.843C>T c.5079C>T (p.Gly1693=) c.5139C>T (p.Gly1713=) c.5034C>T (p.Gly1678=) | |
2 | g.26463973G>C | CA425207061 | OTOF | c.5094C>G (p.Gly1698=) c.2793C>G (p.Gly931=) c.2853C>G (p.Gly951=) c.3024C>G (p.Gly1008=) n.843C>G c.5079C>G (p.Gly1693=) c.5139C>G (p.Gly1713=) c.5034C>G (p.Gly1678=) | |
2 | g.26463973G>T | CA425207060 | OTOF | c.5094C>A (p.Gly1698=) c.2793C>A (p.Gly931=) c.2853C>A (p.Gly951=) c.3024C>A (p.Gly1008=) n.843C>A c.5079C>A (p.Gly1693=) c.5139C>A (p.Gly1713=) c.5034C>A (p.Gly1678=) | |
2 | g.26463973_26463974delinsGC | CA1239814516 | OTOF | c.5093_5094delinsGC (p.Gly1698=) c.2792_2793delinsGC (p.Gly931=) c.2852_2853delinsGC (p.Gly951=) c.3023_3024delinsGC (p.Gly1008=) n.842_843delinsGC c.5078_5079delinsGC (p.Gly1693=) c.5138_5139delinsGC (p.Gly1713=) c.5033_5034delinsGC (p.Gly1678=) | |
2 | g.26463974C>A | CA1562943 | OTOF | c.5093G>T (p.Gly1698Val) c.2792G>T (p.Gly931Val) c.2852G>T (p.Gly951Val) c.3023G>T (p.Gly1008Val) n.842G>T c.5078G>T (p.Gly1693Val) c.5138G>T (p.Gly1713Val) c.5033G>T (p.Gly1678Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26463974C= | CA1239814523 | OTOF | c.5093G= (p.Gly1698=) c.2792G= (p.Gly931=) c.2852G= (p.Gly951=) c.3023G= (p.Gly1008=) n.842G= c.5078G= (p.Gly1693=) c.5138G= (p.Gly1713=) c.5033G= (p.Gly1678=) | |
2 | g.26463974C>G | CA346133698 | OTOF | c.5093G>C (p.Gly1698Ala) c.2792G>C (p.Gly931Ala) c.2852G>C (p.Gly951Ala) c.3023G>C (p.Gly1008Ala) n.842G>C c.5078G>C (p.Gly1693Ala) c.5138G>C (p.Gly1713Ala) c.5033G>C (p.Gly1678Ala) | |
2 | g.26463974C>T | CA346133700 | OTOF | c.5093G>A (p.Gly1698Asp) c.2792G>A (p.Gly931Asp) c.2852G>A (p.Gly951Asp) c.3023G>A (p.Gly1008Asp) n.842G>A c.5078G>A (p.Gly1693Asp) c.5138G>A (p.Gly1713Asp) c.5033G>A (p.Gly1678Asp) | gnomAD v4 |
2 | g.26463976del | CA1239814521 | OTOF | c.5093del (p.Gly1698AlafsTer?) c.2792del (p.Gly931AlafsTer?) c.2852del (p.Gly951AlafsTer?) c.3023del (p.Gly1008AlafsTer?) n.842del c.5078del (p.Gly1693AlafsTer?) c.5138del (p.Gly1713AlafsTer?) c.5033del (p.Gly1678AlafsTer?) | gnomAD v4 |
2 | g.26463975C>A | CA346133703 | OTOF | c.5092G>T (p.Gly1698Cys) c.2791G>T (p.Gly931Cys) c.2851G>T (p.Gly951Cys) c.3022G>T (p.Gly1008Cys) n.841G>T c.5077G>T (p.Gly1693Cys) c.5137G>T (p.Gly1713Cys) c.5032G>T (p.Gly1678Cys) | |
2 | g.26463975C>G | CA346133706 | OTOF | c.5092G>C (p.Gly1698Arg) c.2791G>C (p.Gly931Arg) c.2851G>C (p.Gly951Arg) c.3022G>C (p.Gly1008Arg) n.841G>C c.5077G>C (p.Gly1693Arg) c.5137G>C (p.Gly1713Arg) c.5032G>C (p.Gly1678Arg) | |
2 | g.26463975C>T | CA346133708 | OTOF | c.5092G>A (p.Gly1698Ser) c.2791G>A (p.Gly931Ser) c.2851G>A (p.Gly951Ser) c.3022G>A (p.Gly1008Ser) n.841G>A c.5077G>A (p.Gly1693Ser) c.5137G>A (p.Gly1713Ser) c.5032G>A (p.Gly1678Ser) | |
2 | g.26463976C>A | CA425207066 | OTOF | c.5091G>T (p.Pro1697=) c.2790G>T (p.Pro930=) c.2850G>T (p.Pro950=) c.3021G>T (p.Pro1007=) n.840G>T c.5076G>T (p.Pro1692=) c.5136G>T (p.Pro1712=) c.5031G>T (p.Pro1677=) | |
2 | g.26463976C= | CA1239814527 | OTOF | c.5091G= (p.Pro1697=) c.2790G= (p.Pro930=) c.2850G= (p.Pro950=) c.3021G= (p.Pro1007=) n.840G= c.5076G= (p.Pro1692=) c.5136G= (p.Pro1712=) c.5031G= (p.Pro1677=) | |
2 | g.26463976C>G | CA425207067 | OTOF | c.5091G>C (p.Pro1697=) c.2790G>C (p.Pro930=) c.2850G>C (p.Pro950=) c.3021G>C (p.Pro1007=) n.840G>C c.5076G>C (p.Pro1692=) c.5136G>C (p.Pro1712=) c.5031G>C (p.Pro1677=) | |
2 | g.26463976C>T | CA142921 | OTOF | c.5091G>A (p.Pro1697=) c.2790G>A (p.Pro930=) c.2850G>A (p.Pro950=) c.3021G>A (p.Pro1007=) n.840G>A c.5076G>A (p.Pro1692=) c.5136G>A (p.Pro1712=) c.5031G>A (p.Pro1677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26463977G>A | CA346133713 | OTOF | c.5090C>T (p.Pro1697Leu) c.2789C>T (p.Pro930Leu) c.2849C>T (p.Pro950Leu) c.3020C>T (p.Pro1007Leu) n.839C>T c.5075C>T (p.Pro1692Leu) c.5135C>T (p.Pro1712Leu) c.5030C>T (p.Pro1677Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26463977G>C | CA346133716 | OTOF | c.5090C>G (p.Pro1697Arg) c.2789C>G (p.Pro930Arg) c.2849C>G (p.Pro950Arg) c.3020C>G (p.Pro1007Arg) n.839C>G c.5075C>G (p.Pro1692Arg) c.5135C>G (p.Pro1712Arg) c.5030C>G (p.Pro1677Arg) | |
2 | g.26463977G= | CA1239814529 | OTOF | c.5090C= (p.Pro1697=) c.2789C= (p.Pro930=) c.2849C= (p.Pro950=) c.3020C= (p.Pro1007=) n.839C= c.5075C= (p.Pro1692=) c.5135C= (p.Pro1712=) c.5030C= (p.Pro1677=) | |
2 | g.26463977G>T | CA346133719 | OTOF | c.5090C>A (p.Pro1697Gln) c.2789C>A (p.Pro930Gln) c.2849C>A (p.Pro950Gln) c.3020C>A (p.Pro1007Gln) n.839C>A c.5075C>A (p.Pro1692Gln) c.5135C>A (p.Pro1712Gln) c.5030C>A (p.Pro1677Gln) | |
2 | g.26463978G>A | CA346133721 | OTOF | c.5089C>T (p.Pro1697Ser) c.2788C>T (p.Pro930Ser) c.2848C>T (p.Pro950Ser) c.3019C>T (p.Pro1007Ser) n.838C>T c.5074C>T (p.Pro1692Ser) c.5134C>T (p.Pro1712Ser) c.5029C>T (p.Pro1677Ser) | dbSNP gnomAD v2 |
2 | g.26463978G>C | CA346133724 | OTOF | c.5089C>G (p.Pro1697Ala) c.2788C>G (p.Pro930Ala) c.2848C>G (p.Pro950Ala) c.3019C>G (p.Pro1007Ala) n.838C>G c.5074C>G (p.Pro1692Ala) c.5134C>G (p.Pro1712Ala) c.5029C>G (p.Pro1677Ala) | |
2 | g.26463978G= | CA1239814532 | OTOF | c.5089C= (p.Pro1697=) c.2788C= (p.Pro930=) c.2848C= (p.Pro950=) c.3019C= (p.Pro1007=) n.838C= c.5074C= (p.Pro1692=) c.5134C= (p.Pro1712=) c.5029C= (p.Pro1677=) | |
2 | g.26463978G>T | CA44410793 | OTOF | c.5089C>A (p.Pro1697Thr) c.2788C>A (p.Pro930Thr) c.2848C>A (p.Pro950Thr) c.3019C>A (p.Pro1007Thr) n.838C>A c.5074C>A (p.Pro1692Thr) c.5134C>A (p.Pro1712Thr) c.5029C>A (p.Pro1677Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26463979C>A | CA346133727 | OTOF | c.5088G>T (p.Lys1696Asn) c.2787G>T (p.Lys929Asn) c.2847G>T (p.Lys949Asn) c.3018G>T (p.Lys1006Asn) n.837G>T c.5073G>T (p.Lys1691Asn) c.5133G>T (p.Lys1711Asn) c.5028G>T (p.Lys1676Asn) | |
2 | g.26463979C>G | CA346133730 | OTOF | c.5088G>C (p.Lys1696Asn) c.2787G>C (p.Lys929Asn) c.2847G>C (p.Lys949Asn) c.3018G>C (p.Lys1006Asn) n.837G>C c.5073G>C (p.Lys1691Asn) c.5133G>C (p.Lys1711Asn) c.5028G>C (p.Lys1676Asn) | |
2 | g.26463979C>T | CA425207071 | OTOF | c.5088G>A (p.Lys1696=) c.2787G>A (p.Lys929=) c.2847G>A (p.Lys949=) c.3018G>A (p.Lys1006=) n.837G>A c.5073G>A (p.Lys1691=) c.5133G>A (p.Lys1711=) c.5028G>A (p.Lys1676=) | |
2 | g.26463980T>A | CA346133733 | OTOF | c.5087A>T (p.Lys1696Met) c.2786A>T (p.Lys929Met) c.2846A>T (p.Lys949Met) c.3017A>T (p.Lys1006Met) n.836A>T c.5072A>T (p.Lys1691Met) c.5132A>T (p.Lys1711Met) c.5027A>T (p.Lys1676Met) | |
2 | g.26463980T>C | CA346133735 | OTOF | c.5087A>G (p.Lys1696Arg) c.2786A>G (p.Lys929Arg) c.2846A>G (p.Lys949Arg) c.3017A>G (p.Lys1006Arg) n.836A>G c.5072A>G (p.Lys1691Arg) c.5132A>G (p.Lys1711Arg) c.5027A>G (p.Lys1676Arg) | |
2 | g.26463980T>G | CA346133736 | OTOF | c.5087A>C (p.Lys1696Thr) c.2786A>C (p.Lys929Thr) c.2846A>C (p.Lys949Thr) c.3017A>C (p.Lys1006Thr) n.836A>C c.5072A>C (p.Lys1691Thr) c.5132A>C (p.Lys1711Thr) c.5027A>C (p.Lys1676Thr) | |
2 | g.26463981T>A | CA346133738 | OTOF | c.5086A>T (p.Lys1696Ter) c.2785A>T (p.Lys929Ter) c.2845A>T (p.Lys949Ter) c.3016A>T (p.Lys1006Ter) n.835A>T c.5071A>T (p.Lys1691Ter) c.5131A>T (p.Lys1711Ter) c.5026A>T (p.Lys1676Ter) | |
2 | g.26463981T>C | CA346133739 | OTOF | c.5086A>G (p.Lys1696Glu) c.2785A>G (p.Lys929Glu) c.2845A>G (p.Lys949Glu) c.3016A>G (p.Lys1006Glu) n.835A>G c.5071A>G (p.Lys1691Glu) c.5131A>G (p.Lys1711Glu) c.5026A>G (p.Lys1676Glu) | |
2 | g.26463981T>G | CA346133741 | OTOF | c.5086A>C (p.Lys1696Gln) c.2785A>C (p.Lys929Gln) c.2845A>C (p.Lys949Gln) c.3016A>C (p.Lys1006Gln) n.835A>C c.5071A>C (p.Lys1691Gln) c.5131A>C (p.Lys1711Gln) c.5026A>C (p.Lys1676Gln) | gnomAD v4 |
2 | g.26463982G>A | CA425207074 | OTOF | c.5085C>T (p.Asp1695=) c.2784C>T (p.Asp928=) c.2844C>T (p.Asp948=) c.3015C>T (p.Asp1005=) n.834C>T c.5070C>T (p.Asp1690=) c.5130C>T (p.Asp1710=) c.5025C>T (p.Asp1675=) | dbSNP |