Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.26477224T>G | CA346121855 | OTOF | c.2471A>C (p.Lys824Thr) c.230A>C (p.Lys77Thr) c.401A>C (p.Lys134Thr) c.2516A>C (p.Lys839Thr) | |
2 | g.26477225T>A | CA346121888 | OTOF | c.2470A>T (p.Lys824Ter) c.229A>T (p.Lys77Ter) c.400A>T (p.Lys134Ter) c.2515A>T (p.Lys839Ter) | |
2 | g.26477225T>C | CA346121865 | OTOF | c.2470A>G (p.Lys824Glu) c.229A>G (p.Lys77Glu) c.400A>G (p.Lys134Glu) c.2515A>G (p.Lys839Glu) | ClinVar dbSNP |
2 | g.26477225T>G | CA346121871 | OTOF | c.2470A>C (p.Lys824Gln) c.229A>C (p.Lys77Gln) c.400A>C (p.Lys134Gln) c.2515A>C (p.Lys839Gln) | |
2 | g.26477228_26477239del | CA2658237852 | OTOF | c.2459_2470del (p.Thr820_Asp823del) c.218_229del (p.Thr73_Asp76del) c.389_400del (p.Thr130_Asp133del) c.2504_2515del (p.Thr835_Asp838del) | gnomAD v4 |
2 | g.26477226G>A | CA425359904 | OTOF | c.2469C>T (p.Asp823=) c.228C>T (p.Asp76=) c.399C>T (p.Asp133=) c.2514C>T (p.Asp838=) | ClinVar |
2 | g.26477226G>C | CA346121890 | OTOF | c.2469C>G (p.Asp823Glu) c.228C>G (p.Asp76Glu) c.399C>G (p.Asp133Glu) c.2514C>G (p.Asp838Glu) | |
2 | g.26477226G= | CA1239829699 | OTOF | c.2469C= (p.Asp823=) c.228C= (p.Asp76=) c.399C= (p.Asp133=) c.2514C= (p.Asp838=) | |
2 | g.26477226G>T | CA346121892 | OTOF | c.2469C>A (p.Asp823Glu) c.228C>A (p.Asp76Glu) c.399C>A (p.Asp133Glu) c.2514C>A (p.Asp838Glu) | dbSNP |
2 | g.26477227T>A | CA346121908 | OTOF | c.2468A>T (p.Asp823Val) c.227A>T (p.Asp76Val) c.398A>T (p.Asp133Val) c.2513A>T (p.Asp838Val) | |
2 | g.26477227T>C | CA346121912 | OTOF | c.2468A>G (p.Asp823Gly) c.227A>G (p.Asp76Gly) c.398A>G (p.Asp133Gly) c.2513A>G (p.Asp838Gly) | |
2 | g.26477227T>G | CA346121944 | OTOF | c.2468A>C (p.Asp823Ala) c.227A>C (p.Asp76Ala) c.398A>C (p.Asp133Ala) c.2513A>C (p.Asp838Ala) | |
2 | g.26477228C>A | CA346121958 | OTOF | c.2467G>T (p.Asp823Tyr) c.226G>T (p.Asp76Tyr) c.397G>T (p.Asp133Tyr) c.2512G>T (p.Asp838Tyr) | |
2 | g.26477228C>G | CA346121978 | OTOF | c.2467G>C (p.Asp823His) c.226G>C (p.Asp76His) c.397G>C (p.Asp133His) c.2512G>C (p.Asp838His) | |
2 | g.26477228C>T | CA346121979 | OTOF | c.2467G>A (p.Asp823Asn) c.226G>A (p.Asp76Asn) c.397G>A (p.Asp133Asn) c.2512G>A (p.Asp838Asn) | |
2 | g.26477229C>A | CA425359907 | OTOF | c.2466G>T (p.Arg822=) c.225G>T (p.Arg75=) c.396G>T (p.Arg132=) c.2511G>T (p.Arg837=) | |
2 | g.26477229C= | CA1239829701 | OTOF | c.2466G= (p.Arg822=) c.225G= (p.Arg75=) c.396G= (p.Arg132=) c.2511G= (p.Arg837=) | |
2 | g.26477229C>G | CA425359908 | OTOF | c.2466G>C (p.Arg822=) c.225G>C (p.Arg75=) c.396G>C (p.Arg132=) c.2511G>C (p.Arg837=) | |
2 | g.26477229C>T | CA425359909 | OTOF | c.2466G>A (p.Arg822=) c.225G>A (p.Arg75=) c.396G>A (p.Arg132=) c.2511G>A (p.Arg837=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477230C>A | CA346121980 | OTOF | c.2465G>T (p.Arg822Leu) c.224G>T (p.Arg75Leu) c.395G>T (p.Arg132Leu) c.2510G>T (p.Arg837Leu) | dbSNP gnomAD v4 |
2 | g.26477230C= | CA1239829708 | OTOF | c.2465G= (p.Arg822=) c.224G= (p.Arg75=) c.395G= (p.Arg132=) c.2510G= (p.Arg837=) | |
2 | g.26477230C>G | CA346121987 | OTOF | c.2465G>C (p.Arg822Pro) c.224G>C (p.Arg75Pro) c.395G>C (p.Arg132Pro) c.2510G>C (p.Arg837Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477230C>T | CA182466 | OTOF | c.2465G>A (p.Arg822Gln) c.224G>A (p.Arg75Gln) c.395G>A (p.Arg132Gln) c.2510G>A (p.Arg837Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477231G>A | CA142809 | OTOF | c.2464C>T (p.Arg822Trp) c.223C>T (p.Arg75Trp) c.394C>T (p.Arg132Trp) c.2509C>T (p.Arg837Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477231G>C | CA346122012 | OTOF | c.2464C>G (p.Arg822Gly) c.223C>G (p.Arg75Gly) c.394C>G (p.Arg132Gly) c.2509C>G (p.Arg837Gly) | |
2 | g.26477231G= | CA1239829714 | OTOF | c.2464C= (p.Arg822=) c.223C= (p.Arg75=) c.394C= (p.Arg132=) c.2509C= (p.Arg837=) | |
2 | g.26477231G>T | CA425359914 | OTOF | c.2464C>A (p.Arg822=) c.223C>A (p.Arg75=) c.394C>A (p.Arg132=) c.2509C>A (p.Arg837=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477232C>A | CA1563892 | OTOF | c.2463G>T (p.Val821=) c.222G>T (p.Val74=) c.393G>T (p.Val131=) c.2508G>T (p.Val836=) | dbSNP ExAC gnomAD v4 |
2 | g.26477232C= | CA1239829720 | OTOF | c.2463G= (p.Val821=) c.222G= (p.Val74=) c.393G= (p.Val131=) c.2508G= (p.Val836=) | |
2 | g.26477232C>G | CA425359915 | OTOF | c.2463G>C (p.Val821=) c.222G>C (p.Val74=) c.393G>C (p.Val131=) c.2508G>C (p.Val836=) | |
2 | g.26477232C>T | CA425359916 | OTOF | c.2463G>A (p.Val821=) c.222G>A (p.Val74=) c.393G>A (p.Val131=) c.2508G>A (p.Val836=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477233A= | CA1239829723 | OTOF | c.2462T= (p.Val821=) c.221T= (p.Val74=) c.392T= (p.Val131=) c.2507T= (p.Val836=) | |
2 | g.26477233A>C | CA346122020 | OTOF | c.2462T>G (p.Val821Gly) c.221T>G (p.Val74Gly) c.392T>G (p.Val131Gly) c.2507T>G (p.Val836Gly) | |
2 | g.26477233A>G | CA346122024 | OTOF | c.2462T>C (p.Val821Ala) c.221T>C (p.Val74Ala) c.392T>C (p.Val131Ala) c.2507T>C (p.Val836Ala) | |
2 | g.26477233A>T | CA346122027 | OTOF | c.2462T>A (p.Val821Glu) c.221T>A (p.Val74Glu) c.392T>A (p.Val131Glu) c.2507T>A (p.Val836Glu) | dbSNP |
2 | g.26477234C>A | CA346122036 | OTOF | c.2461G>T (p.Val821Leu) c.220G>T (p.Val74Leu) c.391G>T (p.Val131Leu) c.2506G>T (p.Val836Leu) | |
2 | g.26477234C>G | CA346122046 | OTOF | c.2461G>C (p.Val821Leu) c.220G>C (p.Val74Leu) c.391G>C (p.Val131Leu) c.2506G>C (p.Val836Leu) | |
2 | g.26477234C>T | CA346122053 | OTOF | c.2461G>A (p.Val821Met) c.220G>A (p.Val74Met) c.391G>A (p.Val131Met) c.2506G>A (p.Val836Met) | |
2 | g.26477235C>A | CA425359918 | OTOF | c.2460G>T (p.Thr820=) c.219G>T (p.Thr73=) c.390G>T (p.Thr130=) c.2505G>T (p.Thr835=) | gnomAD v4 |
2 | g.26477235C= | CA1239829725 | OTOF | c.2460G= (p.Thr820=) c.219G= (p.Thr73=) c.390G= (p.Thr130=) c.2505G= (p.Thr835=) | |
2 | g.26477235C>G | CA425359920 | OTOF | c.2460G>C (p.Thr820=) c.219G>C (p.Thr73=) c.390G>C (p.Thr130=) c.2505G>C (p.Thr835=) | ClinVar |
2 | g.26477235C>T | CA44398329 | OTOF | c.2460G>A (p.Thr820=) c.219G>A (p.Thr73=) c.390G>A (p.Thr130=) c.2505G>A (p.Thr835=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477236G>A | CA1563893 | OTOF | c.2459C>T (p.Thr820Met) c.218C>T (p.Thr73Met) c.389C>T (p.Thr130Met) c.2504C>T (p.Thr835Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477236G>C | CA346122059 | OTOF | c.2459C>G (p.Thr820Arg) c.218C>G (p.Thr73Arg) c.389C>G (p.Thr130Arg) c.2504C>G (p.Thr835Arg) | dbSNP gnomAD v4 |
2 | g.26477236G= | CA1239829727 | OTOF | c.2459C= (p.Thr820=) c.218C= (p.Thr73=) c.389C= (p.Thr130=) c.2504C= (p.Thr835=) | |
2 | g.26477236G>T | CA346122072 | OTOF | c.2459C>A (p.Thr820Lys) c.218C>A (p.Thr73Lys) c.389C>A (p.Thr130Lys) c.2504C>A (p.Thr835Lys) | |
2 | g.26477237T>A | CA346122073 | OTOF | c.2458A>T (p.Thr820Ser) c.217A>T (p.Thr73Ser) c.388A>T (p.Thr130Ser) c.2503A>T (p.Thr835Ser) | |
2 | g.26477237T>C | CA346122074 | OTOF | c.2458A>G (p.Thr820Ala) c.217A>G (p.Thr73Ala) c.388A>G (p.Thr130Ala) c.2503A>G (p.Thr835Ala) | |
2 | g.26477237T>G | CA346122090 | OTOF | c.2458A>C (p.Thr820Pro) c.217A>C (p.Thr73Pro) c.388A>C (p.Thr130Pro) c.2503A>C (p.Thr835Pro) | |
2 | g.26477238G>A | CA1563894 | OTOF | c.2457C>T (p.His819=) c.216C>T (p.His72=) c.387C>T (p.His129=) c.2502C>T (p.His834=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477238G>C | CA346122094 | OTOF | c.2457C>G (p.His819Gln) c.216C>G (p.His72Gln) c.387C>G (p.His129Gln) c.2502C>G (p.His834Gln) | dbSNP |
2 | g.26477238G= | CA1239829731 | OTOF | c.2457C= (p.His819=) c.216C= (p.His72=) c.387C= (p.His129=) c.2502C= (p.His834=) | |
2 | g.26477238G>T | CA346122098 | OTOF | c.2457C>A (p.His819Gln) c.216C>A (p.His72Gln) c.387C>A (p.His129Gln) c.2502C>A (p.His834Gln) | gnomAD v4 |
2 | g.26477239T>A | CA346122113 | OTOF | c.2456A>T (p.His819Leu) c.215A>T (p.His72Leu) c.386A>T (p.His129Leu) c.2501A>T (p.His834Leu) | |
2 | g.26477239T>C | CA346122132 | OTOF | c.2456A>G (p.His819Arg) c.215A>G (p.His72Arg) c.386A>G (p.His129Arg) c.2501A>G (p.His834Arg) | gnomAD v4 |
2 | g.26477239T>G | CA346122141 | OTOF | c.2456A>C (p.His819Pro) c.215A>C (p.His72Pro) c.386A>C (p.His129Pro) c.2501A>C (p.His834Pro) | |
2 | g.26477240G>A | CA346122147 | OTOF | c.2455C>T (p.His819Tyr) c.214C>T (p.His72Tyr) c.385C>T (p.His129Tyr) c.2500C>T (p.His834Tyr) | gnomAD v4 |
2 | g.26477240G>C | CA346122154 | OTOF | c.2455C>G (p.His819Asp) c.214C>G (p.His72Asp) c.385C>G (p.His129Asp) c.2500C>G (p.His834Asp) | |
2 | g.26477240G>T | CA346122155 | OTOF | c.2455C>A (p.His819Asn) c.214C>A (p.His72Asn) c.385C>A (p.His129Asn) c.2500C>A (p.His834Asn) | |
2 | g.26477241C>A | CA425359927 | OTOF | c.2454G>T (p.Arg818=) c.213G>T (p.Arg71=) c.384G>T (p.Arg128=) c.2499G>T (p.Arg833=) | |
2 | g.26477241C>G | CA425359926 | OTOF | c.2454G>C (p.Arg818=) c.213G>C (p.Arg71=) c.384G>C (p.Arg128=) c.2499G>C (p.Arg833=) | |
2 | g.26477241C>T | CA425359925 | OTOF | c.2454G>A (p.Arg818=) c.213G>A (p.Arg71=) c.384G>A (p.Arg128=) c.2499G>A (p.Arg833=) | gnomAD v4 |
2 | g.26477242C>A | CA346122157 | OTOF | c.2453G>T (p.Arg818Leu) c.212G>T (p.Arg71Leu) c.383G>T (p.Arg128Leu) c.2498G>T (p.Arg833Leu) | COSMIC COSMIC COSMIC |
2 | g.26477242C= | CA1239829735 | OTOF | c.2453G= (p.Arg818=) c.212G= (p.Arg71=) c.383G= (p.Arg128=) c.2498G= (p.Arg833=) | |
2 | g.26477242C>G | CA346122161 | OTOF | c.2453G>C (p.Arg818Pro) c.212G>C (p.Arg71Pro) c.383G>C (p.Arg128Pro) c.2498G>C (p.Arg833Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477242C>T | CA1563895 | OTOF | c.2453G>A (p.Arg818Gln) c.212G>A (p.Arg71Gln) c.383G>A (p.Arg128Gln) c.2498G>A (p.Arg833Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477243G>A | CA142805 | OTOF | c.2452C>T (p.Arg818Trp) c.211C>T (p.Arg71Trp) c.382C>T (p.Arg128Trp) c.2497C>T (p.Arg833Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477243G>C | CA346122176 | OTOF | c.2452C>G (p.Arg818Gly) c.211C>G (p.Arg71Gly) c.382C>G (p.Arg128Gly) c.2497C>G (p.Arg833Gly) | dbSNP |
2 | g.26477243G= | CA1239829741 | OTOF | c.2452C= (p.Arg818=) c.211C= (p.Arg71=) c.382C= (p.Arg128=) c.2497C= (p.Arg833=) | |
2 | g.26477243G>T | CA425359928 | OTOF | c.2452C>A (p.Arg818=) c.211C>A (p.Arg71=) c.382C>A (p.Arg128=) c.2497C>A (p.Arg833=) | dbSNP |
2 | g.26477244C>A | CA346122184 | OTOF | c.2451G>T (p.Lys817Asn) c.210G>T (p.Lys70Asn) c.381G>T (p.Lys127Asn) c.2496G>T (p.Lys832Asn) | |
2 | g.26477244C>G | CA346122194 | OTOF | c.2451G>C (p.Lys817Asn) c.210G>C (p.Lys70Asn) c.381G>C (p.Lys127Asn) c.2496G>C (p.Lys832Asn) | |
2 | g.26477244C>T | CA425359931 | OTOF | c.2451G>A (p.Lys817=) c.210G>A (p.Lys70=) c.381G>A (p.Lys127=) c.2496G>A (p.Lys832=) | |
2 | g.26477245T>A | CA346122200 | OTOF | c.2450A>T (p.Lys817Met) c.209A>T (p.Lys70Met) c.380A>T (p.Lys127Met) c.2495A>T (p.Lys832Met) | |
2 | g.26477245T>C | CA346122201 | OTOF | c.2450A>G (p.Lys817Arg) c.209A>G (p.Lys70Arg) c.380A>G (p.Lys127Arg) c.2495A>G (p.Lys832Arg) | gnomAD v4 |
2 | g.26477245T>G | CA346122199 | OTOF | c.2450A>C (p.Lys817Thr) c.209A>C (p.Lys70Thr) c.380A>C (p.Lys127Thr) c.2495A>C (p.Lys832Thr) | |
2 | g.26477246T>A | CA346122217 | OTOF | c.2449A>T (p.Lys817Ter) c.208A>T (p.Lys70Ter) c.379A>T (p.Lys127Ter) c.2494A>T (p.Lys832Ter) | gnomAD v4 |
2 | g.26477246T>C | CA346122208 | OTOF | c.2449A>G (p.Lys817Glu) c.208A>G (p.Lys70Glu) c.379A>G (p.Lys127Glu) c.2494A>G (p.Lys832Glu) | |
2 | g.26477246T>G | CA346122243 | OTOF | c.2449A>C (p.Lys817Gln) c.208A>C (p.Lys70Gln) c.379A>C (p.Lys127Gln) c.2494A>C (p.Lys832Gln) | |
2 | g.26477247C>A | CA425359932 | OTOF | c.2448G>T (p.Val816=) c.207G>T (p.Val69=) c.378G>T (p.Val126=) c.2493G>T (p.Val831=) | |
2 | g.26477247C= | CA1239829743 | OTOF | c.2448G= (p.Val816=) c.207G= (p.Val69=) c.378G= (p.Val126=) c.2493G= (p.Val831=) | |
2 | g.26477247C>G | CA425359934 | OTOF | c.2448G>C (p.Val816=) c.207G>C (p.Val69=) c.378G>C (p.Val126=) c.2493G>C (p.Val831=) | |
2 | g.26477247C>T | CA425359933 | OTOF | c.2448G>A (p.Val816=) c.207G>A (p.Val69=) c.378G>A (p.Val126=) c.2493G>A (p.Val831=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477248A= | CA1239829745 | OTOF | c.2447T= (p.Val816=) c.206T= (p.Val69=) c.377T= (p.Val126=) c.2492T= (p.Val831=) | |
2 | g.26477248A>C | CA346122249 | OTOF | c.2447T>G (p.Val816Gly) c.206T>G (p.Val69Gly) c.377T>G (p.Val126Gly) c.2492T>G (p.Val831Gly) | |
2 | g.26477248A>G | CA346122251 | OTOF | c.2447T>C (p.Val816Ala) c.206T>C (p.Val69Ala) c.377T>C (p.Val126Ala) c.2492T>C (p.Val831Ala) | |
2 | g.26477248A>T | CA346122261 | OTOF | c.2447T>A (p.Val816Glu) c.206T>A (p.Val69Glu) c.377T>A (p.Val126Glu) c.2492T>A (p.Val831Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477249C>A | CA346122264 | OTOF | c.2446G>T (p.Val816Leu) c.205G>T (p.Val69Leu) c.376G>T (p.Val126Leu) c.2491G>T (p.Val831Leu) | |
2 | g.26477249C= | CA1239829747 | OTOF | c.2446G= (p.Val816=) c.205G= (p.Val69=) c.376G= (p.Val126=) c.2491G= (p.Val831=) | |
2 | g.26477249C>G | CA346122266 | OTOF | c.2446G>C (p.Val816Leu) c.205G>C (p.Val69Leu) c.376G>C (p.Val126Leu) c.2491G>C (p.Val831Leu) | |
2 | g.26477249C>T | CA1563896 | OTOF | c.2446G>A (p.Val816Met) c.205G>A (p.Val69Met) c.376G>A (p.Val126Met) c.2491G>A (p.Val831Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477250C>A | CA346122275 | OTOF | c.2445G>T (p.Gln815His) c.204G>T (p.Gln68His) c.375G>T (p.Gln125His) c.2490G>T (p.Gln830His) | |
2 | g.26477250C= | CA1239829750 | OTOF | c.2445G= (p.Gln815=) c.204G= (p.Gln68=) c.375G= (p.Gln125=) c.2490G= (p.Gln830=) | |
2 | g.26477250C>G | CA346122278 | OTOF | c.2445G>C (p.Gln815His) c.204G>C (p.Gln68His) c.375G>C (p.Gln125His) c.2490G>C (p.Gln830His) | |
2 | g.26477250C>T | CA1563897 | OTOF | c.2445G>A (p.Gln815=) c.204G>A (p.Gln68=) c.375G>A (p.Gln125=) c.2490G>A (p.Gln830=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477250_26477251del | CA2576699500 | OTOF | c.2444_2445del (p.Gln815ArgfsTer?) c.203_204del (p.Gln68ArgfsTer?) c.374_375del (p.Gln125ArgfsTer?) c.2489_2490del (p.Gln830ArgfsTer?) | gnomAD v4 |
2 | g.26477251T>A | CA346122282 | OTOF | c.2444A>T (p.Gln815Leu) c.203A>T (p.Gln68Leu) c.374A>T (p.Gln125Leu) c.2489A>T (p.Gln830Leu) | |
2 | g.26477251T>C | CA346122283 | OTOF | c.2444A>G (p.Gln815Arg) c.203A>G (p.Gln68Arg) c.374A>G (p.Gln125Arg) c.2489A>G (p.Gln830Arg) | gnomAD v4 |
2 | g.26477251T>G | CA346122286 | OTOF | c.2444A>C (p.Gln815Pro) c.203A>C (p.Gln68Pro) c.374A>C (p.Gln125Pro) c.2489A>C (p.Gln830Pro) | |
2 | g.26477251_26477252delinsTG | CA1239829753 | OTOF | c.2443_2444delinsCA (p.Gln815=) c.202_203delinsCA (p.Gln68=) c.373_374delinsCA (p.Gln125=) c.2488_2489delinsCA (p.Gln830=) | |
2 | g.26477252G>A | CA346122291 | OTOF | c.2443C>T (p.Gln815Ter) c.202C>T (p.Gln68Ter) c.373C>T (p.Gln125Ter) c.2488C>T (p.Gln830Ter) | |
2 | g.26477252G>C | CA346122288 | OTOF | c.2443C>G (p.Gln815Glu) c.202C>G (p.Gln68Glu) c.373C>G (p.Gln125Glu) c.2488C>G (p.Gln830Glu) | |
2 | g.26477252G>T | CA346122289 | OTOF | c.2443C>A (p.Gln815Lys) c.202C>A (p.Gln68Lys) c.373C>A (p.Gln125Lys) c.2488C>A (p.Gln830Lys) | gnomAD v4 |
2 | g.26477254del | CA913189627 | OTOF | c.2443del (p.Gln815ArgfsTer2) c.202del (p.Gln68ArgfsTer2) c.373del (p.Gln125ArgfsTer2) c.2488del (p.Gln830ArgfsTer2) | ClinVar dbSNP |
2 | g.26477253G>A | CA425359940 | OTOF | c.2442C>T (p.Ala814=) c.201C>T (p.Ala67=) c.372C>T (p.Ala124=) c.2487C>T (p.Ala829=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477253G>C | CA425359941 | OTOF | c.2442C>G (p.Ala814=) c.201C>G (p.Ala67=) c.372C>G (p.Ala124=) c.2487C>G (p.Ala829=) | |
2 | g.26477253G= | CA1239829761 | OTOF | c.2442C= (p.Ala814=) c.201C= (p.Ala67=) c.372C= (p.Ala124=) c.2487C= (p.Ala829=) | |
2 | g.26477253G>T | CA425359942 | OTOF | c.2442C>A (p.Ala814=) c.201C>A (p.Ala67=) c.372C>A (p.Ala124=) c.2487C>A (p.Ala829=) | |
2 | g.26477257_26477271del | CA645517907 | OTOF | c.2428_2442del (p.Arg810_Ala814del) c.187_201del (p.Arg63_Ala67del) c.358_372del (p.Arg120_Ala124del) c.2473_2487del (p.Arg825_Ala829del) | COSMIC COSMIC COSMIC |
2 | g.26477254G>A | CA346122299 | OTOF | c.2441C>T (p.Ala814Val) c.200C>T (p.Ala67Val) c.371C>T (p.Ala124Val) c.2486C>T (p.Ala829Val) | |
2 | g.26477254G>C | CA346122300 | OTOF | c.2441C>G (p.Ala814Gly) c.200C>G (p.Ala67Gly) c.371C>G (p.Ala124Gly) c.2486C>G (p.Ala829Gly) | |
2 | g.26477254G>T | CA346122303 | OTOF | c.2441C>A (p.Ala814Asp) c.200C>A (p.Ala67Asp) c.371C>A (p.Ala124Asp) c.2486C>A (p.Ala829Asp) | gnomAD v4 |
2 | g.26477255C>A | CA346122310 | OTOF | c.2440G>T (p.Ala814Ser) c.199G>T (p.Ala67Ser) c.370G>T (p.Ala124Ser) c.2485G>T (p.Ala829Ser) | |
2 | g.26477255C= | CA1239829766 | OTOF | c.2440G= (p.Ala814=) c.199G= (p.Ala67=) c.370G= (p.Ala124=) c.2485G= (p.Ala829=) | |
2 | g.26477255C>G | CA346122317 | OTOF | c.2440G>C (p.Ala814Pro) c.199G>C (p.Ala67Pro) c.370G>C (p.Ala124Pro) c.2485G>C (p.Ala829Pro) | |
2 | g.26477255C>T | CA346122329 | OTOF | c.2440G>A (p.Ala814Thr) c.199G>A (p.Ala67Thr) c.370G>A (p.Ala124Thr) c.2485G>A (p.Ala829Thr) | dbSNP gnomAD v4 |
2 | g.26477256C>A | CA425359946 | OTOF | c.2439G>T (p.Arg813=) c.198G>T (p.Arg66=) c.369G>T (p.Arg123=) c.2484G>T (p.Arg828=) | |
2 | g.26477256C>G | CA425359948 | OTOF | c.2439G>C (p.Arg813=) c.198G>C (p.Arg66=) c.369G>C (p.Arg123=) c.2484G>C (p.Arg828=) | |
2 | g.26477256C>T | CA425359945 | OTOF | c.2439G>A (p.Arg813=) c.198G>A (p.Arg66=) c.369G>A (p.Arg123=) c.2484G>A (p.Arg828=) | gnomAD v4 |
2 | g.26477257C>A | CA346122344 | OTOF | c.2438G>T (p.Arg813Leu) c.197G>T (p.Arg66Leu) c.368G>T (p.Arg123Leu) c.2483G>T (p.Arg828Leu) | gnomAD v4 |
2 | g.26477257C= | CA1239829769 | OTOF | c.2438G= (p.Arg813=) c.197G= (p.Arg66=) c.368G= (p.Arg123=) c.2483G= (p.Arg828=) | |
2 | g.26477257C>G | CA346122348 | OTOF | c.2438G>C (p.Arg813Pro) c.197G>C (p.Arg66Pro) c.368G>C (p.Arg123Pro) c.2483G>C (p.Arg828Pro) | |
2 | g.26477257C>T | CA1563898 | OTOF | c.2438G>A (p.Arg813Gln) c.197G>A (p.Arg66Gln) c.368G>A (p.Arg123Gln) c.2483G>A (p.Arg828Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477258G>A | CA1563899 | OTOF | c.2437C>T (p.Arg813Trp) c.196C>T (p.Arg66Trp) c.367C>T (p.Arg123Trp) c.2482C>T (p.Arg828Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477258G>C | CA346122356 | OTOF | c.2437C>G (p.Arg813Gly) c.196C>G (p.Arg66Gly) c.367C>G (p.Arg123Gly) c.2482C>G (p.Arg828Gly) | |
2 | g.26477258G= | CA1239829772 | OTOF | c.2437C= (p.Arg813=) c.196C= (p.Arg66=) c.367C= (p.Arg123=) c.2482C= (p.Arg828=) | |
2 | g.26477258G>T | CA425359950 | OTOF | c.2437C>A (p.Arg813=) c.196C>A (p.Arg66=) c.367C>A (p.Arg123=) c.2482C>A (p.Arg828=) | |
2 | g.26477259C>A | CA425359951 | OTOF | c.2436G>T (p.Leu812=) c.195G>T (p.Leu65=) c.366G>T (p.Leu122=) c.2481G>T (p.Leu827=) | |
2 | g.26477259C>G | CA425359952 | OTOF | c.2436G>C (p.Leu812=) c.195G>C (p.Leu65=) c.366G>C (p.Leu122=) c.2481G>C (p.Leu827=) | |
2 | g.26477259C>T | CA425359953 | OTOF | c.2436G>A (p.Leu812=) c.195G>A (p.Leu65=) c.366G>A (p.Leu122=) c.2481G>A (p.Leu827=) | ClinVar dbSNP |
2 | g.26477260A>C | CA346122394 | OTOF | c.2435T>G (p.Leu812Arg) c.194T>G (p.Leu65Arg) c.365T>G (p.Leu122Arg) c.2480T>G (p.Leu827Arg) | |
2 | g.26477260A>G | CA346122399 | OTOF | c.2435T>C (p.Leu812Pro) c.194T>C (p.Leu65Pro) c.365T>C (p.Leu122Pro) c.2480T>C (p.Leu827Pro) | |
2 | g.26477260A>T | CA346122373 | OTOF | c.2435T>A (p.Leu812Gln) c.194T>A (p.Leu65Gln) c.365T>A (p.Leu122Gln) c.2480T>A (p.Leu827Gln) | |
2 | g.26477261G>A | CA425359957 | OTOF | c.2434C>T (p.Leu812=) c.193C>T (p.Leu65=) c.364C>T (p.Leu122=) c.2479C>T (p.Leu827=) | |
2 | g.26477261G>C | CA346122405 | OTOF | c.2434C>G (p.Leu812Val) c.193C>G (p.Leu65Val) c.364C>G (p.Leu122Val) c.2479C>G (p.Leu827Val) | |
2 | g.26477261G>T | CA346122406 | OTOF | c.2434C>A (p.Leu812Met) c.193C>A (p.Leu65Met) c.364C>A (p.Leu122Met) c.2479C>A (p.Leu827Met) | gnomAD v4 |
2 | g.26477262C>A | CA346122420 | OTOF | c.2433G>T (p.Met811Ile) c.192G>T (p.Met64Ile) c.363G>T (p.Met121Ile) c.2478G>T (p.Met826Ile) | |
2 | g.26477262C>G | CA346122428 | OTOF | c.2433G>C (p.Met811Ile) c.192G>C (p.Met64Ile) c.363G>C (p.Met121Ile) c.2478G>C (p.Met826Ile) | |
2 | g.26477262C>T | CA346122433 | OTOF | c.2433G>A (p.Met811Ile) c.192G>A (p.Met64Ile) c.363G>A (p.Met121Ile) c.2478G>A (p.Met826Ile) | |
2 | g.26477263A= | CA1239829774 | OTOF | c.2432T= (p.Met811=) c.191T= (p.Met64=) c.362T= (p.Met121=) c.2477T= (p.Met826=) | |
2 | g.26477263A>C | CA346122439 | OTOF | c.2432T>G (p.Met811Arg) c.191T>G (p.Met64Arg) c.362T>G (p.Met121Arg) c.2477T>G (p.Met826Arg) | |
2 | g.26477263A>G | CA346122440 | OTOF | c.2432T>C (p.Met811Thr) c.191T>C (p.Met64Thr) c.362T>C (p.Met121Thr) c.2477T>C (p.Met826Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477263A>T | CA346122441 | OTOF | c.2432T>A (p.Met811Lys) c.191T>A (p.Met64Lys) c.362T>A (p.Met121Lys) c.2477T>A (p.Met826Lys) | |
2 | g.26477264T>A | CA346122445 | OTOF | c.2431A>T (p.Met811Leu) c.190A>T (p.Met64Leu) c.361A>T (p.Met121Leu) c.2476A>T (p.Met826Leu) | |
2 | g.26477264T>C | CA346122453 | OTOF | c.2431A>G (p.Met811Val) c.190A>G (p.Met64Val) c.361A>G (p.Met121Val) c.2476A>G (p.Met826Val) | |
2 | g.26477264T>G | CA346122455 | OTOF | c.2431A>C (p.Met811Leu) c.190A>C (p.Met64Leu) c.361A>C (p.Met121Leu) c.2476A>C (p.Met826Leu) | |
2 | g.26477265C>A | CA346122458 | OTOF | c.2430G>T (p.Arg810Ser) c.189G>T (p.Arg63Ser) c.360G>T (p.Arg120Ser) c.2475G>T (p.Arg825Ser) | |
2 | g.26477265C>G | CA346122460 | OTOF | c.2430G>C (p.Arg810Ser) c.189G>C (p.Arg63Ser) c.360G>C (p.Arg120Ser) c.2475G>C (p.Arg825Ser) | |
2 | g.26477265C>T | CA425359962 | OTOF | c.2430G>A (p.Arg810=) c.189G>A (p.Arg63=) c.360G>A (p.Arg120=) c.2475G>A (p.Arg825=) | |
2 | g.26477266C>A | CA346122491 | OTOF | c.2429G>T (p.Arg810Met) c.188G>T (p.Arg63Met) c.359G>T (p.Arg120Met) c.2474G>T (p.Arg825Met) | |
2 | g.26477266C= | CA1239829776 | OTOF | c.2429G= (p.Arg810=) c.188G= (p.Arg63=) c.359G= (p.Arg120=) c.2474G= (p.Arg825=) | |
2 | g.26477266C>G | CA44398340 | OTOF | c.2429G>C (p.Arg810Thr) c.188G>C (p.Arg63Thr) c.359G>C (p.Arg120Thr) c.2474G>C (p.Arg825Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477266C>T | CA346122471 | OTOF | c.2429G>A (p.Arg810Lys) c.188G>A (p.Arg63Lys) c.359G>A (p.Arg120Lys) c.2474G>A (p.Arg825Lys) | |
2 | g.26477267T>A | CA346122495 | OTOF | c.2428A>T (p.Arg810Trp) c.187A>T (p.Arg63Trp) c.358A>T (p.Arg120Trp) c.2473A>T (p.Arg825Trp) | |
2 | g.26477267T>C | CA346122496 | OTOF | c.2428A>G (p.Arg810Gly) c.187A>G (p.Arg63Gly) c.358A>G (p.Arg120Gly) c.2473A>G (p.Arg825Gly) | |
2 | g.26477267T>G | CA425359964 | OTOF | c.2428A>C (p.Arg810=) c.187A>C (p.Arg63=) c.358A>C (p.Arg120=) c.2473A>C (p.Arg825=) | |
2 | g.26477268G>A | CA425359965 | OTOF | c.2427C>T (p.Ala809=) c.186C>T (p.Ala62=) c.357C>T (p.Ala119=) c.2472C>T (p.Ala824=) | |
2 | g.26477268G>C | CA425359967 | OTOF | c.2427C>G (p.Ala809=) c.186C>G (p.Ala62=) c.357C>G (p.Ala119=) c.2472C>G (p.Ala824=) | |
2 | g.26477268G>T | CA425359966 | OTOF | c.2427C>A (p.Ala809=) c.186C>A (p.Ala62=) c.357C>A (p.Ala119=) c.2472C>A (p.Ala824=) | gnomAD v4 |
2 | g.26477269G>A | CA1563900 | OTOF | c.2426C>T (p.Ala809Val) c.185C>T (p.Ala62Val) c.356C>T (p.Ala119Val) c.2471C>T (p.Ala824Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477269G>C | CA346122508 | OTOF | c.2426C>G (p.Ala809Gly) c.185C>G (p.Ala62Gly) c.356C>G (p.Ala119Gly) c.2471C>G (p.Ala824Gly) | |
2 | g.26477269G= | CA1239829780 | OTOF | c.2426C= (p.Ala809=) c.185C= (p.Ala62=) c.356C= (p.Ala119=) c.2471C= (p.Ala824=) | |
2 | g.26477269G>T | CA346122513 | OTOF | c.2426C>A (p.Ala809Asp) c.185C>A (p.Ala62Asp) c.356C>A (p.Ala119Asp) c.2471C>A (p.Ala824Asp) | gnomAD v4 |
2 | g.26477270C>A | CA346122516 | OTOF | c.2425G>T (p.Ala809Ser) c.184G>T (p.Ala62Ser) c.355G>T (p.Ala119Ser) c.2470G>T (p.Ala824Ser) | gnomAD v4 |
2 | g.26477270C= | CA1239829783 | OTOF | c.2425G= (p.Ala809=) c.184G= (p.Ala62=) c.355G= (p.Ala119=) c.2470G= (p.Ala824=) | |
2 | g.26477270C>G | CA346122520 | OTOF | c.2425G>C (p.Ala809Pro) c.184G>C (p.Ala62Pro) c.355G>C (p.Ala119Pro) c.2470G>C (p.Ala824Pro) | |
2 | g.26477270C>T | CA346122523 | OTOF | c.2425G>A (p.Ala809Thr) c.184G>A (p.Ala62Thr) c.355G>A (p.Ala119Thr) c.2470G>A (p.Ala824Thr) | dbSNP |
2 | g.26477271C>A | CA346122535 | OTOF | c.2424G>T (p.Gln808His) c.183G>T (p.Gln61His) c.354G>T (p.Gln118His) c.2469G>T (p.Gln823His) | |
2 | g.26477271C>G | CA346122542 | OTOF | c.2424G>C (p.Gln808His) c.183G>C (p.Gln61His) c.354G>C (p.Gln118His) c.2469G>C (p.Gln823His) | |
2 | g.26477271C>T | CA425359968 | OTOF | c.2424G>A (p.Gln808=) c.183G>A (p.Gln61=) c.354G>A (p.Gln118=) c.2469G>A (p.Gln823=) | |
2 | g.26477272T>A | CA346122550 | OTOF | c.2423A>T (p.Gln808Leu) c.182A>T (p.Gln61Leu) c.353A>T (p.Gln118Leu) c.2468A>T (p.Gln823Leu) | |
2 | g.26477272T>C | CA346122561 | OTOF | c.2423A>G (p.Gln808Arg) c.182A>G (p.Gln61Arg) c.353A>G (p.Gln118Arg) c.2468A>G (p.Gln823Arg) | |
2 | g.26477272T>G | CA346122563 | OTOF | c.2423A>C (p.Gln808Pro) c.182A>C (p.Gln61Pro) c.353A>C (p.Gln118Pro) c.2468A>C (p.Gln823Pro) | gnomAD v4 |
2 | g.26477273G>A | CA1563901 | OTOF | c.2422C>T (p.Gln808Ter) c.181C>T (p.Gln61Ter) c.352C>T (p.Gln118Ter) c.2467C>T (p.Gln823Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477273G>C | CA346122571 | OTOF | c.2422C>G (p.Gln808Glu) c.181C>G (p.Gln61Glu) c.352C>G (p.Gln118Glu) c.2467C>G (p.Gln823Glu) | |
2 | g.26477273G= | CA1239829786 | OTOF | c.2422C= (p.Gln808=) c.181C= (p.Gln61=) c.352C= (p.Gln118=) c.2467C= (p.Gln823=) | |
2 | g.26477273G>T | CA346122566 | OTOF | c.2422C>A (p.Gln808Lys) c.181C>A (p.Gln61Lys) c.352C>A (p.Gln118Lys) c.2467C>A (p.Gln823Lys) | |
2 | g.26477274C>A | CA346122582 | OTOF | c.2421G>T (p.Gln807His) c.180G>T (p.Gln60His) c.351G>T (p.Gln117His) c.2466G>T (p.Gln822His) | |
2 | g.26477274C>G | CA346122585 | OTOF | c.2421G>C (p.Gln807His) c.180G>C (p.Gln60His) c.351G>C (p.Gln117His) c.2466G>C (p.Gln822His) | |
2 | g.26477274C>T | CA425359970 | OTOF | c.2421G>A (p.Gln807=) c.180G>A (p.Gln60=) c.351G>A (p.Gln117=) c.2466G>A (p.Gln822=) | gnomAD v4 |
2 | g.26477275T>A | CA346122589 | OTOF | c.2420A>T (p.Gln807Leu) c.179A>T (p.Gln60Leu) c.350A>T (p.Gln117Leu) c.2465A>T (p.Gln822Leu) | |
2 | g.26477275T>C | CA346122594 | OTOF | c.2420A>G (p.Gln807Arg) c.179A>G (p.Gln60Arg) c.350A>G (p.Gln117Arg) c.2465A>G (p.Gln822Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477275T>G | CA346122600 | OTOF | c.2420A>C (p.Gln807Pro) c.179A>C (p.Gln60Pro) c.350A>C (p.Gln117Pro) c.2465A>C (p.Gln822Pro) | |
2 | g.26477275T= | CA1239829790 | OTOF | c.2420A= (p.Gln807=) c.179A= (p.Gln60=) c.350A= (p.Gln117=) c.2465A= (p.Gln822=) | |
2 | g.26477276G>A | CA346122605 | OTOF | c.2419C>T (p.Gln807Ter) c.178C>T (p.Gln60Ter) c.349C>T (p.Gln117Ter) c.2464C>T (p.Gln822Ter) | dbSNP COSMIC COSMIC COSMIC |
2 | g.26477276G>C | CA346122611 | OTOF | c.2419C>G (p.Gln807Glu) c.178C>G (p.Gln60Glu) c.349C>G (p.Gln117Glu) c.2464C>G (p.Gln822Glu) | |
2 | g.26477276G= | CA1239829794 | OTOF | c.2419C= (p.Gln807=) c.178C= (p.Gln60=) c.349C= (p.Gln117=) c.2464C= (p.Gln822=) | |
2 | g.26477276G>T | CA1563902 | OTOF | c.2419C>A (p.Gln807Lys) c.178C>A (p.Gln60Lys) c.349C>A (p.Gln117Lys) c.2464C>A (p.Gln822Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477277C>A | CA425359972 | OTOF | c.2418G>T (p.Gly806=) c.177G>T (p.Gly59=) c.348G>T (p.Gly116=) c.2463G>T (p.Gly821=) | |
2 | g.26477277C>G | CA425359973 | OTOF | c.2418G>C (p.Gly806=) c.177G>C (p.Gly59=) c.348G>C (p.Gly116=) c.2463G>C (p.Gly821=) | |
2 | g.26477277C>T | CA425359971 | OTOF | c.2418G>A (p.Gly806=) c.177G>A (p.Gly59=) c.348G>A (p.Gly116=) c.2463G>A (p.Gly821=) | gnomAD v4 |
2 | g.26477280del | CA2658237874 | OTOF | c.2418del (p.Gln807SerfsTer10) c.177del (p.Gln60SerfsTer10) c.348del (p.Gln117SerfsTer10) c.2463del (p.Gln822SerfsTer10) | gnomAD v4 |
2 | g.26477278C>A | CA346122622 | OTOF | c.2417G>T (p.Gly806Val) c.176G>T (p.Gly59Val) c.347G>T (p.Gly116Val) c.2462G>T (p.Gly821Val) | |
2 | g.26477278C>G | CA346122627 | OTOF | c.2417G>C (p.Gly806Ala) c.176G>C (p.Gly59Ala) c.347G>C (p.Gly116Ala) c.2462G>C (p.Gly821Ala) | gnomAD v4 |
2 | g.26477278C>T | CA346122631 | OTOF | c.2417G>A (p.Gly806Glu) c.176G>A (p.Gly59Glu) c.347G>A (p.Gly116Glu) c.2462G>A (p.Gly821Glu) | |
2 | g.26477279C>A | CA346122643 | OTOF | c.2416G>T (p.Gly806Trp) c.175G>T (p.Gly59Trp) c.346G>T (p.Gly116Trp) c.2461G>T (p.Gly821Trp) | gnomAD v4 |
2 | g.26477279C>G | CA346122648 | OTOF | c.2416G>C (p.Gly806Arg) c.175G>C (p.Gly59Arg) c.346G>C (p.Gly116Arg) c.2461G>C (p.Gly821Arg) | |
2 | g.26477279C>T | CA346122649 | OTOF | c.2416G>A (p.Gly806Arg) c.175G>A (p.Gly59Arg) c.346G>A (p.Gly116Arg) c.2461G>A (p.Gly821Arg) | gnomAD v4 |
2 | g.26477280C>A | CA346122663 | OTOF | c.2415G>T (p.Met805Ile) c.174G>T (p.Met58Ile) c.345G>T (p.Met115Ile) c.2460G>T (p.Met820Ile) | |
2 | g.26477280C>G | CA346122654 | OTOF | c.2415G>C (p.Met805Ile) c.174G>C (p.Met58Ile) c.345G>C (p.Met115Ile) c.2460G>C (p.Met820Ile) | |
2 | g.26477280C>T | CA346122658 | OTOF | c.2415G>A (p.Met805Ile) c.174G>A (p.Met58Ile) c.345G>A (p.Met115Ile) c.2460G>A (p.Met820Ile) | |
2 | g.26477281A>C | CA346122669 | OTOF | c.2414T>G (p.Met805Arg) c.173T>G (p.Met58Arg) c.344T>G (p.Met115Arg) c.2459T>G (p.Met820Arg) | gnomAD v4 |
2 | g.26477281A>G | CA346122681 | OTOF | c.2414T>C (p.Met805Thr) c.173T>C (p.Met58Thr) c.344T>C (p.Met115Thr) c.2459T>C (p.Met820Thr) | |
2 | g.26477281A>T | CA346122683 | OTOF | c.2414T>A (p.Met805Lys) c.173T>A (p.Met58Lys) c.344T>A (p.Met115Lys) c.2459T>A (p.Met820Lys) | |
2 | g.26477282T>A | CA346122699 | OTOF | c.2413A>T (p.Met805Leu) c.172A>T (p.Met58Leu) c.343A>T (p.Met115Leu) c.2458A>T (p.Met820Leu) | |
2 | g.26477282T>C | CA346122703 | OTOF | c.2413A>G (p.Met805Val) c.172A>G (p.Met58Val) c.343A>G (p.Met115Val) c.2458A>G (p.Met820Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477282T>G | CA346122712 | OTOF | c.2413A>C (p.Met805Leu) c.172A>C (p.Met58Leu) c.343A>C (p.Met115Leu) c.2458A>C (p.Met820Leu) | |
2 | g.26477282T= | CA1239829800 | OTOF | c.2413A= (p.Met805=) c.172A= (p.Met58=) c.343A= (p.Met115=) c.2458A= (p.Met820=) | |
2 | g.26477283G>A | CA425359978 | OTOF | c.2412C>T (p.Asn804=) c.171C>T (p.Asn57=) c.342C>T (p.Asn114=) c.2457C>T (p.Asn819=) | |
2 | g.26477283G>C | CA346122718 | OTOF | c.2412C>G (p.Asn804Lys) c.171C>G (p.Asn57Lys) c.342C>G (p.Asn114Lys) c.2457C>G (p.Asn819Lys) | |
2 | g.26477283G>T | CA346122719 | OTOF | c.2412C>A (p.Asn804Lys) c.171C>A (p.Asn57Lys) c.342C>A (p.Asn114Lys) c.2457C>A (p.Asn819Lys) | gnomAD v4 |
2 | g.26477284T>A | CA346122722 | OTOF | c.2411A>T (p.Asn804Ile) c.170A>T (p.Asn57Ile) c.341A>T (p.Asn114Ile) c.2456A>T (p.Asn819Ile) | |
2 | g.26477284T>C | CA346122723 | OTOF | c.2411A>G (p.Asn804Ser) c.170A>G (p.Asn57Ser) c.341A>G (p.Asn114Ser) c.2456A>G (p.Asn819Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477284T>G | CA346122729 | OTOF | c.2411A>C (p.Asn804Thr) c.170A>C (p.Asn57Thr) c.341A>C (p.Asn114Thr) c.2456A>C (p.Asn819Thr) | |
2 | g.26477284T= | CA1239829805 | OTOF | c.2411A= (p.Asn804=) c.170A= (p.Asn57=) c.341A= (p.Asn114=) c.2456A= (p.Asn819=) | |
2 | g.26477287del | CA2658237875 | OTOF | c.2411del (p.Asn804ThrfsTer13) c.170del (p.Asn57ThrfsTer13) c.341del (p.Asn114ThrfsTer13) c.2456del (p.Asn819ThrfsTer13) | gnomAD v4 |
2 | g.26477285T>A | CA346122734 | OTOF | c.2410A>T (p.Asn804Tyr) c.169A>T (p.Asn57Tyr) c.340A>T (p.Asn114Tyr) c.2455A>T (p.Asn819Tyr) | |
2 | g.26477285T>C | CA346122741 | OTOF | c.2410A>G (p.Asn804Asp) c.169A>G (p.Asn57Asp) c.340A>G (p.Asn114Asp) c.2455A>G (p.Asn819Asp) | |
2 | g.26477285T>G | CA346122733 | OTOF | c.2410A>C (p.Asn804His) c.169A>C (p.Asn57His) c.340A>C (p.Asn114His) c.2455A>C (p.Asn819His) | |
2 | g.26477286T>A | CA346122748 | OTOF | c.2409A>T (p.Glu803Asp) c.168A>T (p.Glu56Asp) c.339A>T (p.Glu113Asp) c.2454A>T (p.Glu818Asp) | |
2 | g.26477286T>C | CA425359986 | OTOF | c.2409A>G (p.Glu803=) c.168A>G (p.Glu56=) c.339A>G (p.Glu113=) c.2454A>G (p.Glu818=) | |
2 | g.26477286T>G | CA346122750 | OTOF | c.2409A>C (p.Glu803Asp) c.168A>C (p.Glu56Asp) c.339A>C (p.Glu113Asp) c.2454A>C (p.Glu818Asp) | |
2 | g.26477287T>A | CA346122756 | OTOF | c.2408A>T (p.Glu803Val) c.167A>T (p.Glu56Val) c.338A>T (p.Glu113Val) c.2453A>T (p.Glu818Val) | |
2 | g.26477287T>C | CA346122759 | OTOF | c.2408A>G (p.Glu803Gly) c.167A>G (p.Glu56Gly) c.338A>G (p.Glu113Gly) c.2453A>G (p.Glu818Gly) | |
2 | g.26477287T>G | CA346122761 | OTOF | c.2408A>C (p.Glu803Ala) c.167A>C (p.Glu56Ala) c.338A>C (p.Glu113Ala) c.2453A>C (p.Glu818Ala) | |
2 | g.26477288C>A | CA346122765 | OTOF | c.2407G>T (p.Glu803Ter) c.166G>T (p.Glu56Ter) c.337G>T (p.Glu113Ter) c.2452G>T (p.Glu818Ter) | gnomAD v4 |
2 | g.26477288C= | CA1239829806 | OTOF | c.2407G= (p.Glu803=) c.166G= (p.Glu56=) c.337G= (p.Glu113=) c.2452G= (p.Glu818=) | |
2 | g.26477288C>G | CA346122768 | OTOF | c.2407G>C (p.Glu803Gln) c.166G>C (p.Glu56Gln) c.337G>C (p.Glu113Gln) c.2452G>C (p.Glu818Gln) | gnomAD v4 |
2 | g.26477288C>T | CA1563903 | OTOF | c.2407G>A (p.Glu803Lys) c.166G>A (p.Glu56Lys) c.337G>A (p.Glu113Lys) c.2452G>A (p.Glu818Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477289C>A | CA346122775 | OTOF | c.2407-1G>T (n.2407-1G>T) c.166-1G>T (n.166-1G>T) c.337-1G>T (n.337-1G>T) c.2452-1G>T (n.2452-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477289C= | CA1239829808 | OTOF | c.2407-1G= (n.2407-1G=) c.166-1G= (n.166-1G=) c.337-1G= (n.337-1G=) c.2452-1G= (n.2452-1G=) | |
2 | g.26477289C>G | CA346122780 | OTOF | c.2407-1G>C (n.2407-1G>C) c.166-1G>C (n.166-1G>C) c.337-1G>C (n.337-1G>C) c.2452-1G>C (n.2452-1G>C) | |
2 | g.26477289C>T | CA346122786 | OTOF | c.2407-1G>A (n.2407-1G>A) c.166-1G>A (n.166-1G>A) c.337-1G>A (n.337-1G>A) c.2452-1G>A (n.2452-1G>A) | |
2 | g.26477290del | CA2580066194 | OTOF | c.2407-2del (n.2407-2del) c.166-2del (n.166-2del) c.337-2del (n.337-2del) c.2452-2del (n.2452-2del) | ClinVar |
2 | g.26477290T>A | CA346122793 | OTOF | c.2407-2A>T (n.2407-2A>T) c.166-2A>T (n.166-2A>T) c.337-2A>T (n.337-2A>T) c.2452-2A>T (n.2452-2A>T) | |
2 | g.26477290T>C | CA346122794 | OTOF | c.2407-2A>G (n.2407-2A>G) c.166-2A>G (n.166-2A>G) c.337-2A>G (n.337-2A>G) c.2452-2A>G (n.2452-2A>G) | |
2 | g.26477290T>G | CA346122795 | OTOF | c.2407-2A>C (n.2407-2A>C) c.166-2A>C (n.166-2A>C) c.337-2A>C (n.337-2A>C) c.2452-2A>C (n.2452-2A>C) | |
2 | g.26477291G>T | CA2658237876 | OTOF | c.2407-3C>A (n.2407-3C>A) c.166-3C>A (n.166-3C>A) c.337-3C>A (n.337-3C>A) c.2452-3C>A (n.2452-3C>A) | gnomAD v4 |
2 | g.26477292C>A | CA1563905 | OTOF | c.2407-4G>T (n.2407-4G>T) c.166-4G>T (n.166-4G>T) c.337-4G>T (n.337-4G>T) c.2452-4G>T (n.2452-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477292C= | CA1239829812 | OTOF | c.2407-4G= (n.2407-4G=) c.166-4G= (n.166-4G=) c.337-4G= (n.337-4G=) c.2452-4G= (n.2452-4G=) | |
2 | g.26477292C>T | CA1563904 | OTOF | c.2407-4G>A (n.2407-4G>A) c.166-4G>A (n.166-4G>A) c.337-4G>A (n.337-4G>A) c.2452-4G>A (n.2452-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477292_26477304delinsCGAAGGAGGGGGT | CA1239829813 | OTOF | c.2407-16_2407-4delinsACCCCCTCCTTCG (n.2407-16_2407-4delinsACCCCCTCCTTCG) c.166-16_166-4delinsACCCCCTCCTTCG (n.166-16_166-4delinsACCCCCTCCTTCG) c.337-16_337-4delinsACCCCCTCCTTCG (n.337-16_337-4delinsACCCCCTCCTTCG) c.2452-16_2452-4delinsACCCCCTCCTTCG (n.2452-16_2452-4delinsACCCCCTCCTTCG) | |
2 | g.26477292_26477306delinsCGAAGGAGGGGGTGT | CA1239829810 | OTOF | c.2407-18_2407-4delinsACACCCCCTCCTTCG (n.2407-18_2407-4delinsACACCCCCTCCTTCG) c.166-18_166-4delinsACACCCCCTCCTTCG (n.166-18_166-4delinsACACCCCCTCCTTCG) c.337-18_337-4delinsACACCCCCTCCTTCG (n.337-18_337-4delinsACACCCCCTCCTTCG) c.2452-18_2452-4delinsACACCCCCTCCTTCG (n.2452-18_2452-4delinsACACCCCCTCCTTCG) | |
2 | g.26477293G>A | CA1563907 | OTOF | c.2407-5C>T (n.2407-5C>T) c.166-5C>T (n.166-5C>T) c.337-5C>T (n.337-5C>T) c.2452-5C>T (n.2452-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477293G= | CA1239829820 | OTOF | c.2407-5C= (n.2407-5C=) c.166-5C= (n.166-5C=) c.337-5C= (n.337-5C=) c.2452-5C= (n.2452-5C=) | |
2 | g.26477294_26477296del | CA2697547890 | OTOF | c.2407-7_2407-5del (n.2407-7_2407-5del) c.166-7_166-5del (n.166-7_166-5del) c.337-7_337-5del (n.337-7_337-5del) c.2452-7_2452-5del (n.2452-7_2452-5del) | ClinVar |
2 | g.26477294_26477305del | CA767285045 | OTOF | c.2407-16_2407-5del (n.2407-16_2407-5del) c.166-16_166-5del (n.166-16_166-5del) c.337-16_337-5del (n.337-16_337-5del) c.2452-16_2452-5del (n.2452-16_2452-5del) | ClinVar dbSNP |
2 | g.26477293_26477306del | CA1563906 | OTOF | c.2407-18_2407-5del (n.2407-18_2407-5del) c.166-18_166-5del (n.166-18_166-5del) c.337-18_337-5del (n.337-18_337-5del) c.2452-18_2452-5del (n.2452-18_2452-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477294A= | CA1239829824 | OTOF | c.2407-6T= (n.2407-6T=) c.166-6T= (n.166-6T=) c.337-6T= (n.337-6T=) c.2452-6T= (n.2452-6T=) | |
2 | g.26477294A>G | CA531761834 | OTOF | c.2407-6T>C (n.2407-6T>C) c.166-6T>C (n.166-6T>C) c.337-6T>C (n.337-6T>C) c.2452-6T>C (n.2452-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477295A= | CA1239829826 | OTOF | c.2407-7T= (n.2407-7T=) c.166-7T= (n.166-7T=) c.337-7T= (n.337-7T=) c.2452-7T= (n.2452-7T=) | |
2 | g.26477295A>T | CA767285048 | OTOF | c.2407-7T>A (n.2407-7T>A) c.166-7T>A (n.166-7T>A) c.337-7T>A (n.337-7T>A) c.2452-7T>A (n.2452-7T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477296G>A | CA2576699501 | OTOF | c.2407-8C>T (n.2407-8C>T) c.166-8C>T (n.166-8C>T) c.337-8C>T (n.337-8C>T) c.2452-8C>T (n.2452-8C>T) | gnomAD v4 |
2 | g.26477296G>T | CA2658237877 | OTOF | c.2407-8C>A (n.2407-8C>A) c.166-8C>A (n.166-8C>A) c.337-8C>A (n.337-8C>A) c.2452-8C>A (n.2452-8C>A) | gnomAD v4 |
2 | g.26477297G>A | CA2658237878 | OTOF | c.2407-9C>T (n.2407-9C>T) c.166-9C>T (n.166-9C>T) c.337-9C>T (n.337-9C>T) c.2452-9C>T (n.2452-9C>T) | gnomAD v4 |
2 | g.26477297G>C | CA2658237879 | OTOF | c.2407-9C>G (n.2407-9C>G) c.166-9C>G (n.166-9C>G) c.337-9C>G (n.337-9C>G) c.2452-9C>G (n.2452-9C>G) | ClinVar gnomAD v4 |
2 | g.26477297G= | CA1239829827 | OTOF | c.2407-9C= (n.2407-9C=) c.166-9C= (n.166-9C=) c.337-9C= (n.337-9C=) c.2452-9C= (n.2452-9C=) | |
2 | g.26477297G>T | CA1563908 | OTOF | c.2407-9C>A (n.2407-9C>A) c.166-9C>A (n.166-9C>A) c.337-9C>A (n.337-9C>A) c.2452-9C>A (n.2452-9C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477297_26477298delinsTT | CA2499215833 | OTOF | c.2407-10_2407-9delinsAA (n.2407-10_2407-9delinsAA) c.166-10_166-9delinsAA (n.166-10_166-9delinsAA) c.337-10_337-9delinsAA (n.337-10_337-9delinsAA) c.2452-10_2452-9delinsAA (n.2452-10_2452-9delinsAA) | ClinVar dbSNP |
2 | g.26477298A= | CA1239829831 | OTOF | c.2407-10T= (n.2407-10T=) c.166-10T= (n.166-10T=) c.337-10T= (n.337-10T=) c.2452-10T= (n.2452-10T=) | |
2 | g.26477298A>T | CA1563909 | OTOF | c.2407-10T>A (n.2407-10T>A) c.166-10T>A (n.166-10T>A) c.337-10T>A (n.337-10T>A) c.2452-10T>A (n.2452-10T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477298_26477299delinsAG | CA1239829830 | OTOF | c.2407-11_2407-10delinsCT (n.2407-11_2407-10delinsCT) c.166-11_166-10delinsCT (n.166-11_166-10delinsCT) c.337-11_337-10delinsCT (n.337-11_337-10delinsCT) c.2452-11_2452-10delinsCT (n.2452-11_2452-10delinsCT) | |
2 | g.26477299G>A | CA531761835 | OTOF | c.2407-11C>T (n.2407-11C>T) c.166-11C>T (n.166-11C>T) c.337-11C>T (n.337-11C>T) c.2452-11C>T (n.2452-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477299G>C | CA1239829833 | OTOF | c.2407-11C>G (n.2407-11C>G) c.166-11C>G (n.166-11C>G) c.337-11C>G (n.337-11C>G) c.2452-11C>G (n.2452-11C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477299G= | CA1239829835 | OTOF | c.2407-11C= (n.2407-11C=) c.166-11C= (n.166-11C=) c.337-11C= (n.337-11C=) c.2452-11C= (n.2452-11C=) | |
2 | g.26477299G>T | CA2523587161 | OTOF | c.2407-11C>A (n.2407-11C>A) c.166-11C>A (n.166-11C>A) c.337-11C>A (n.337-11C>A) c.2452-11C>A (n.2452-11C>A) | gnomAD v4 |
2 | g.26477303dup | CA1239829832 | OTOF | c.2407-11dup (n.2407-11dup) c.166-11dup (n.166-11dup) c.337-11dup (n.337-11dup) c.2452-11dup (n.2452-11dup) | dbSNP |
2 | g.26477303del | CA44398360 | OTOF | c.2407-11del (n.2407-11del) c.166-11del (n.166-11del) c.337-11del (n.337-11del) c.2452-11del (n.2452-11del) | dbSNP |
2 | g.26477300G>A | CA44398364 | OTOF | c.2407-12C>T (n.2407-12C>T) c.166-12C>T (n.166-12C>T) c.337-12C>T (n.337-12C>T) c.2452-12C>T (n.2452-12C>T) | dbSNP |
2 | g.26477300G= | CA1239829838 | OTOF | c.2407-12C= (n.2407-12C=) c.166-12C= (n.166-12C=) c.337-12C= (n.337-12C=) c.2452-12C= (n.2452-12C=) | |
2 | g.26477300G>T | CA2658237880 | OTOF | c.2407-12C>A (n.2407-12C>A) c.166-12C>A (n.166-12C>A) c.337-12C>A (n.337-12C>A) c.2452-12C>A (n.2452-12C>A) | gnomAD v4 |
2 | g.26477301G>C | CA2658237881 | OTOF | c.2407-13C>G (n.2407-13C>G) c.166-13C>G (n.166-13C>G) c.337-13C>G (n.337-13C>G) c.2452-13C>G (n.2452-13C>G) | gnomAD v4 |
2 | g.26477301G= | CA1239829841 | OTOF | c.2407-13C= (n.2407-13C=) c.166-13C= (n.166-13C=) c.337-13C= (n.337-13C=) c.2452-13C= (n.2452-13C=) | |
2 | g.26477301G>T | CA1239829842 | OTOF | c.2407-13C>A (n.2407-13C>A) c.166-13C>A (n.166-13C>A) c.337-13C>A (n.337-13C>A) c.2452-13C>A (n.2452-13C>A) | dbSNP |
2 | g.26477302G>A | CA1563910 | OTOF | c.2407-14C>T (n.2407-14C>T) c.166-14C>T (n.166-14C>T) c.337-14C>T (n.337-14C>T) c.2452-14C>T (n.2452-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477302G= | CA1239829846 | OTOF | c.2407-14C= (n.2407-14C=) c.166-14C= (n.166-14C=) c.337-14C= (n.337-14C=) c.2452-14C= (n.2452-14C=) | |
2 | g.26477302G>T | CA1239829848 | OTOF | c.2407-14C>A (n.2407-14C>A) c.166-14C>A (n.166-14C>A) c.337-14C>A (n.337-14C>A) c.2452-14C>A (n.2452-14C>A) | dbSNP gnomAD v4 |
2 | g.26477303G>A | CA44398369 | OTOF | c.2407-15C>T (n.2407-15C>T) c.166-15C>T (n.166-15C>T) c.337-15C>T (n.337-15C>T) c.2452-15C>T (n.2452-15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477303G= | CA1239829850 | OTOF | c.2407-15C= (n.2407-15C=) c.166-15C= (n.166-15C=) c.337-15C= (n.337-15C=) c.2452-15C= (n.2452-15C=) | |
2 | g.26477303G>T | CA531761836 | OTOF | c.2407-15C>A (n.2407-15C>A) c.166-15C>A (n.166-15C>A) c.337-15C>A (n.337-15C>A) c.2452-15C>A (n.2452-15C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477304T>C | CA2658237882 | OTOF | c.2407-16A>G (n.2407-16A>G) c.166-16A>G (n.166-16A>G) c.337-16A>G (n.337-16A>G) c.2452-16A>G (n.2452-16A>G) | gnomAD v4 |
2 | g.26477304T>G | CA1239829852 | OTOF | c.2407-16A>C (n.2407-16A>C) c.166-16A>C (n.166-16A>C) c.337-16A>C (n.337-16A>C) c.2452-16A>C (n.2452-16A>C) | dbSNP |
2 | g.26477304T= | CA1239829853 | OTOF | c.2407-16A= (n.2407-16A=) c.166-16A= (n.166-16A=) c.337-16A= (n.337-16A=) c.2452-16A= (n.2452-16A=) | |
2 | g.26477305G>A | CA1563911 | OTOF | c.2407-17C>T (n.2407-17C>T) c.166-17C>T (n.166-17C>T) c.337-17C>T (n.337-17C>T) c.2452-17C>T (n.2452-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477305G>C | CA767285091 | OTOF | c.2407-17C>G (n.2407-17C>G) c.166-17C>G (n.166-17C>G) c.337-17C>G (n.337-17C>G) c.2452-17C>G (n.2452-17C>G) | dbSNP |
2 | g.26477305G= | CA1239829856 | OTOF | c.2407-17C= (n.2407-17C=) c.166-17C= (n.166-17C=) c.337-17C= (n.337-17C=) c.2452-17C= (n.2452-17C=) | |
2 | g.26477305G>T | CA2576699502 | OTOF | c.2407-17C>A (n.2407-17C>A) c.166-17C>A (n.166-17C>A) c.337-17C>A (n.337-17C>A) c.2452-17C>A (n.2452-17C>A) | gnomAD v4 |
2 | g.26477305_26477306delinsCC | CA2580066195 | OTOF | c.2407-18_2407-17delinsGG (n.2407-18_2407-17delinsGG) c.166-18_166-17delinsGG (n.166-18_166-17delinsGG) c.337-18_337-17delinsGG (n.337-18_337-17delinsGG) c.2452-18_2452-17delinsGG (n.2452-18_2452-17delinsGG) | ClinVar |
2 | g.26477306T>C | CA1563912 | OTOF | c.2407-18A>G (n.2407-18A>G) c.166-18A>G (n.166-18A>G) c.337-18A>G (n.337-18A>G) c.2452-18A>G (n.2452-18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477306T= | CA1239829860 | OTOF | c.2407-18A= (n.2407-18A=) c.166-18A= (n.166-18A=) c.337-18A= (n.337-18A=) c.2452-18A= (n.2452-18A=) | |
2 | g.26477307_26477308insCC | CA1563913 | OTOF | c.2407-19_2407-18insGG (n.2407-19_2407-18insGG) c.166-19_166-18insGG (n.166-19_166-18insGG) c.337-19_337-18insGG (n.337-19_337-18insGG) c.2452-19_2452-18insGG (n.2452-19_2452-18insGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477308A>C | CA2658237883 | OTOF | c.2407-20T>G (n.2407-20T>G) c.166-20T>G (n.166-20T>G) c.337-20T>G (n.337-20T>G) c.2452-20T>G (n.2452-20T>G) | gnomAD v4 |
2 | g.26477309G>C | CA2658237884 | OTOF | c.2407-21C>G (n.2407-21C>G) c.166-21C>G (n.166-21C>G) c.337-21C>G (n.337-21C>G) c.2452-21C>G (n.2452-21C>G) | gnomAD v4 |
2 | g.26477309G>T | CA2658237885 | OTOF | c.2407-21C>A (n.2407-21C>A) c.166-21C>A (n.166-21C>A) c.337-21C>A (n.337-21C>A) c.2452-21C>A (n.2452-21C>A) | gnomAD v4 |
2 | g.26477310T>C | CA1563914 | OTOF | c.2407-22A>G (n.2407-22A>G) c.166-22A>G (n.166-22A>G) c.337-22A>G (n.337-22A>G) c.2452-22A>G (n.2452-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477310T= | CA1239829864 | OTOF | c.2407-22A= (n.2407-22A=) c.166-22A= (n.166-22A=) c.337-22A= (n.337-22A=) c.2452-22A= (n.2452-22A=) | |
2 | g.26477311G>A | CA2658237886 | OTOF | c.2407-23C>T (n.2407-23C>T) c.166-23C>T (n.166-23C>T) c.337-23C>T (n.337-23C>T) c.2452-23C>T (n.2452-23C>T) | gnomAD v4 |