| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26477210G>A | CA340525 | OTOF | c.2485C>T (p.Gln829Ter) c.244C>T (p.Gln82Ter) c.415C>T (p.Gln139Ter) c.2530C>T (p.Gln844Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477210G>C | CA346121640 | OTOF | c.2485C>G (p.Gln829Glu) c.244C>G (p.Gln82Glu) c.415C>G (p.Gln139Glu) c.2530C>G (p.Gln844Glu) | |
| 2 | g.26477210G= | CA1239829684 | OTOF | c.2485C= (p.Gln829=) c.244C= (p.Gln82=) c.415C= (p.Gln139=) c.2530C= (p.Gln844=) | |
| 2 | g.26477210G>T | CA346121647 | OTOF | c.2485C>A (p.Gln829Lys) c.244C>A (p.Gln82Lys) c.415C>A (p.Gln139Lys) c.2530C>A (p.Gln844Lys) | |
| 2 | g.26477211G>A | CA1563891 | OTOF | c.2484C>T (p.Cys828=) c.243C>T (p.Cys81=) c.414C>T (p.Cys138=) c.2529C>T (p.Cys843=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26477211G>C | CA346121669 | OTOF | c.2484C>G (p.Cys828Trp) c.243C>G (p.Cys81Trp) c.414C>G (p.Cys138Trp) c.2529C>G (p.Cys843Trp) | |
| 2 | g.26477211G= | CA1239829688 | OTOF | c.2484C= (p.Cys828=) c.243C= (p.Cys81=) c.414C= (p.Cys138=) c.2529C= (p.Cys843=) | |
| 2 | g.26477211G>T | CA346121668 | OTOF | c.2484C>A (p.Cys828Ter) c.243C>A (p.Cys81Ter) c.414C>A (p.Cys138Ter) c.2529C>A (p.Cys843Ter) | dbSNP |
| 2 | g.26477212C>A | CA346121676 | OTOF | c.2483G>T (p.Cys828Phe) c.242G>T (p.Cys81Phe) c.413G>T (p.Cys138Phe) c.2528G>T (p.Cys843Phe) | |
| 2 | g.26477212C= | CA1239829692 | OTOF | c.2483G= (p.Cys828=) c.242G= (p.Cys81=) c.413G= (p.Cys138=) c.2528G= (p.Cys843=) | |
| 2 | g.26477212C>G | CA346121688 | OTOF | c.2483G>C (p.Cys828Ser) c.242G>C (p.Cys81Ser) c.413G>C (p.Cys138Ser) c.2528G>C (p.Cys843Ser) | dbSNP |
| 2 | g.26477212C>T | CA346121711 | OTOF | c.2483G>A (p.Cys828Tyr) c.242G>A (p.Cys81Tyr) c.413G>A (p.Cys138Tyr) c.2528G>A (p.Cys843Tyr) | gnomAD v4 |
| 2 | g.26477212_26477213insGCAGCTTCTGCAGGAAGTTCTGTC | CA1028608204 | OTOF | c.2483_2484insACAGAACTTCCTGCAGAAGCTGCG (p.Cys828Ter) c.242_243insACAGAACTTCCTGCAGAAGCTGCG (p.Cys81Ter) c.413_414insACAGAACTTCCTGCAGAAGCTGCG (p.Cys138Ter) c.2528_2529insACAGAACTTCCTGCAGAAGCTGCG (p.Cys843Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26477213A= | CA1239829695 | OTOF | c.2482T= (p.Cys828=) c.241T= (p.Cys81=) c.412T= (p.Cys138=) c.2527T= (p.Cys843=) | |
| 2 | g.26477213A>C | CA346121714 | OTOF | c.2482T>G (p.Cys828Gly) c.241T>G (p.Cys81Gly) c.412T>G (p.Cys138Gly) c.2527T>G (p.Cys843Gly) | |
| 2 | g.26477213A>G | CA346121717 | OTOF | c.2482T>C (p.Cys828Arg) c.241T>C (p.Cys81Arg) c.412T>C (p.Cys138Arg) c.2527T>C (p.Cys843Arg) | |
| 2 | g.26477213A>T | CA346121731 | OTOF | c.2482T>A (p.Cys828Ser) c.241T>A (p.Cys81Ser) c.412T>A (p.Cys138Ser) c.2527T>A (p.Cys843Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26477214C>A | CA425359880 | OTOF | c.2481G>T (p.Leu827=) c.240G>T (p.Leu80=) c.411G>T (p.Leu137=) c.2526G>T (p.Leu842=) | |
| 2 | g.26477214C>G | CA425359882 | OTOF | c.2481G>C (p.Leu827=) c.240G>C (p.Leu80=) c.411G>C (p.Leu137=) c.2526G>C (p.Leu842=) | |
| 2 | g.26477214C>T | CA425359883 | OTOF | c.2481G>A (p.Leu827=) c.240G>A (p.Leu80=) c.411G>A (p.Leu137=) c.2526G>A (p.Leu842=) | gnomAD v4 |
| 2 | g.26477218_26477223del | CA2658237851 | OTOF | c.2476_2481del (p.Arg826_Leu827del) c.235_240del (p.Arg79_Leu80del) c.406_411del (p.Arg136_Leu137del) c.2521_2526del (p.Arg841_Leu842del) | gnomAD v4 |
| 2 | g.26477215A>C | CA346121734 | OTOF | c.2480T>G (p.Leu827Arg) c.239T>G (p.Leu80Arg) c.410T>G (p.Leu137Arg) c.2525T>G (p.Leu842Arg) | |
| 2 | g.26477215A>G | CA346121735 | OTOF | c.2480T>C (p.Leu827Pro) c.239T>C (p.Leu80Pro) c.410T>C (p.Leu137Pro) c.2525T>C (p.Leu842Pro) | |
| 2 | g.26477215A>T | CA346121737 | OTOF | c.2480T>A (p.Leu827Gln) c.239T>A (p.Leu80Gln) c.410T>A (p.Leu137Gln) c.2525T>A (p.Leu842Gln) | |
| 2 | g.26477216G>A | CA425359887 | OTOF | c.2479C>T (p.Leu827=) c.238C>T (p.Leu80=) c.409C>T (p.Leu137=) c.2524C>T (p.Leu842=) | |
| 2 | g.26477216G>C | CA346121743 | OTOF | c.2479C>G (p.Leu827Val) c.238C>G (p.Leu80Val) c.409C>G (p.Leu137Val) c.2524C>G (p.Leu842Val) | |
| 2 | g.26477216G>T | CA346121750 | OTOF | c.2479C>A (p.Leu827Met) c.238C>A (p.Leu80Met) c.409C>A (p.Leu137Met) c.2524C>A (p.Leu842Met) | |
| 2 | g.26477217C>A | CA346121766 | OTOF | c.2478G>T (p.Arg826Ser) c.237G>T (p.Arg79Ser) c.408G>T (p.Arg136Ser) c.2523G>T (p.Arg841Ser) | |
| 2 | g.26477217C>G | CA346121760 | OTOF | c.2478G>C (p.Arg826Ser) c.237G>C (p.Arg79Ser) c.408G>C (p.Arg136Ser) c.2523G>C (p.Arg841Ser) | gnomAD v4 |
| 2 | g.26477217C>T | CA425359888 | OTOF | c.2478G>A (p.Arg826=) c.237G>A (p.Arg79=) c.408G>A (p.Arg136=) c.2523G>A (p.Arg841=) | |
| 2 | g.26477218C>A | CA346121775 | OTOF | c.2477G>T (p.Arg826Met) c.236G>T (p.Arg79Met) c.407G>T (p.Arg136Met) c.2522G>T (p.Arg841Met) | gnomAD v4 |
| 2 | g.26477218C>G | CA346121781 | OTOF | c.2477G>C (p.Arg826Thr) c.236G>C (p.Arg79Thr) c.407G>C (p.Arg136Thr) c.2522G>C (p.Arg841Thr) | |
| 2 | g.26477218C>T | CA346121777 | OTOF | c.2477G>A (p.Arg826Lys) c.236G>A (p.Arg79Lys) c.407G>A (p.Arg136Lys) c.2522G>A (p.Arg841Lys) | |
| 2 | g.26477219T>A | CA346121791 | OTOF | c.2476A>T (p.Arg826Trp) c.235A>T (p.Arg79Trp) c.406A>T (p.Arg136Trp) c.2521A>T (p.Arg841Trp) | |
| 2 | g.26477219T>C | CA346121799 | OTOF | c.2476A>G (p.Arg826Gly) c.235A>G (p.Arg79Gly) c.406A>G (p.Arg136Gly) c.2521A>G (p.Arg841Gly) | |
| 2 | g.26477219T>G | CA425359890 | OTOF | c.2476A>C (p.Arg826=) c.235A>C (p.Arg79=) c.406A>C (p.Arg136=) c.2521A>C (p.Arg841=) | gnomAD v4 |
| 2 | g.26477220C>A | CA425359894 | OTOF | c.2475G>T (p.Leu825=) c.234G>T (p.Leu78=) c.405G>T (p.Leu135=) c.2520G>T (p.Leu840=) | |
| 2 | g.26477220C>G | CA425359895 | OTOF | c.2475G>C (p.Leu825=) c.234G>C (p.Leu78=) c.405G>C (p.Leu135=) c.2520G>C (p.Leu840=) | |
| 2 | g.26477220C>T | CA425359897 | OTOF | c.2475G>A (p.Leu825=) c.234G>A (p.Leu78=) c.405G>A (p.Leu135=) c.2520G>A (p.Leu840=) | |
| 2 | g.26477221A>C | CA346121808 | OTOF | c.2474T>G (p.Leu825Arg) c.233T>G (p.Leu78Arg) c.404T>G (p.Leu135Arg) c.2519T>G (p.Leu840Arg) | |
| 2 | g.26477221A>G | CA346121814 | OTOF | c.2474T>C (p.Leu825Pro) c.233T>C (p.Leu78Pro) c.404T>C (p.Leu135Pro) c.2519T>C (p.Leu840Pro) | |
| 2 | g.26477221A>T | CA346121819 | OTOF | c.2474T>A (p.Leu825Gln) c.233T>A (p.Leu78Gln) c.404T>A (p.Leu135Gln) c.2519T>A (p.Leu840Gln) | |
| 2 | g.26477222G>A | CA425359898 | OTOF | c.2473C>T (p.Leu825=) c.232C>T (p.Leu78=) c.403C>T (p.Leu135=) c.2518C>T (p.Leu840=) | |
| 2 | g.26477222G>C | CA346121820 | OTOF | c.2473C>G (p.Leu825Val) c.232C>G (p.Leu78Val) c.403C>G (p.Leu135Val) c.2518C>G (p.Leu840Val) | |
| 2 | g.26477222G>T | CA346121821 | OTOF | c.2473C>A (p.Leu825Met) c.232C>A (p.Leu78Met) c.403C>A (p.Leu135Met) c.2518C>A (p.Leu840Met) | |
| 2 | g.26477223C>A | CA346121822 | OTOF | c.2472G>T (p.Lys824Asn) c.231G>T (p.Lys77Asn) c.402G>T (p.Lys134Asn) c.2517G>T (p.Lys839Asn) | |
| 2 | g.26477223C>G | CA346121824 | OTOF | c.2472G>C (p.Lys824Asn) c.231G>C (p.Lys77Asn) c.402G>C (p.Lys134Asn) c.2517G>C (p.Lys839Asn) | |
| 2 | g.26477223C>T | CA425359899 | OTOF | c.2472G>A (p.Lys824=) c.231G>A (p.Lys77=) c.402G>A (p.Lys134=) c.2517G>A (p.Lys839=) | |
| 2 | g.26477224T>A | CA346121848 | OTOF | c.2471A>T (p.Lys824Met) c.230A>T (p.Lys77Met) c.401A>T (p.Lys134Met) c.2516A>T (p.Lys839Met) | COSMIC COSMIC COSMIC |
| 2 | g.26477224T>C | CA346121851 | OTOF | c.2471A>G (p.Lys824Arg) c.230A>G (p.Lys77Arg) c.401A>G (p.Lys134Arg) c.2516A>G (p.Lys839Arg) | COSMIC COSMIC COSMIC |