Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26475917T>A | CA425359841 | OTOF | c.2988A>T (p.Thr996=) c.747A>T (p.Thr249=) c.918A>T (p.Thr306=) c.3033A>T (p.Thr1011=) | |
2 | g.26475917T>C | CA425359839 | OTOF | c.2988A>G (p.Thr996=) c.747A>G (p.Thr249=) c.918A>G (p.Thr306=) c.3033A>G (p.Thr1011=) | |
2 | g.26475917T>G | CA425359838 | OTOF | c.2988A>C (p.Thr996=) c.747A>C (p.Thr249=) c.918A>C (p.Thr306=) c.3033A>C (p.Thr1011=) | |
2 | g.26475918G>A | CA346112382 | OTOF | c.2987C>T (p.Thr996Ile) c.746C>T (p.Thr249Ile) c.917C>T (p.Thr306Ile) c.3032C>T (p.Thr1011Ile) | gnomAD v4 |
2 | g.26475918G>C | CA346112384 | OTOF | c.2987C>G (p.Thr996Arg) c.746C>G (p.Thr249Arg) c.917C>G (p.Thr306Arg) c.3032C>G (p.Thr1011Arg) | |
2 | g.26475918G>T | CA346112385 | OTOF | c.2987C>A (p.Thr996Lys) c.746C>A (p.Thr249Lys) c.917C>A (p.Thr306Lys) c.3032C>A (p.Thr1011Lys) | |
2 | g.26475919T>A | CA346112392 | OTOF | c.2986A>T (p.Thr996Ser) c.745A>T (p.Thr249Ser) c.916A>T (p.Thr306Ser) c.3031A>T (p.Thr1011Ser) | |
2 | g.26475919T>C | CA1563711 | OTOF | c.2986A>G (p.Thr996Ala) c.745A>G (p.Thr249Ala) c.916A>G (p.Thr306Ala) c.3031A>G (p.Thr1011Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475919T>G | CA346112389 | OTOF | c.2986A>C (p.Thr996Pro) c.745A>C (p.Thr249Pro) c.916A>C (p.Thr306Pro) c.3031A>C (p.Thr1011Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475919T= | CA1239827664 | OTOF | c.2986A= (p.Thr996=) c.745A= (p.Thr249=) c.916A= (p.Thr306=) c.3031A= (p.Thr1011=) | |
2 | g.26475920G>A | CA425359846 | OTOF | c.2985C>T (p.Cys995=) c.744C>T (p.Cys248=) c.915C>T (p.Cys305=) c.3030C>T (p.Cys1010=) | |
2 | g.26475920G>C | CA346112398 | OTOF | c.2985C>G (p.Cys995Trp) c.744C>G (p.Cys248Trp) c.915C>G (p.Cys305Trp) c.3030C>G (p.Cys1010Trp) | |
2 | g.26475920G>T | CA346112401 | OTOF | c.2985C>A (p.Cys995Ter) c.744C>A (p.Cys248Ter) c.915C>A (p.Cys305Ter) c.3030C>A (p.Cys1010Ter) | ClinVar dbSNP |
2 | g.26475921C>A | CA346112408 | OTOF | c.2984G>T (p.Cys995Phe) c.743G>T (p.Cys248Phe) c.914G>T (p.Cys305Phe) c.3029G>T (p.Cys1010Phe) | |
2 | g.26475921C= | CA1239827669 | OTOF | c.2984G= (p.Cys995=) c.743G= (p.Cys248=) c.914G= (p.Cys305=) c.3029G= (p.Cys1010=) | |
2 | g.26475921C>G | CA346112412 | OTOF | c.2984G>C (p.Cys995Ser) c.743G>C (p.Cys248Ser) c.914G>C (p.Cys305Ser) c.3029G>C (p.Cys1010Ser) | |
2 | g.26475921C>T | CA346112413 | OTOF | c.2984G>A (p.Cys995Tyr) c.743G>A (p.Cys248Tyr) c.914G>A (p.Cys305Tyr) c.3029G>A (p.Cys1010Tyr) | dbSNP gnomAD v4 |
2 | g.26475922A= | CA1239827675 | OTOF | c.2983T= (p.Cys995=) c.742T= (p.Cys248=) c.913T= (p.Cys305=) c.3028T= (p.Cys1010=) | |
2 | g.26475922A>C | CA346112414 | OTOF | c.2983T>G (p.Cys995Gly) c.742T>G (p.Cys248Gly) c.913T>G (p.Cys305Gly) c.3028T>G (p.Cys1010Gly) | |
2 | g.26475922A>G | CA346112418 | OTOF | c.2983T>C (p.Cys995Arg) c.742T>C (p.Cys248Arg) c.913T>C (p.Cys305Arg) c.3028T>C (p.Cys1010Arg) | ClinVar dbSNP gnomAD v2 |
2 | g.26475922A>T | CA346112415 | OTOF | c.2983T>A (p.Cys995Ser) c.742T>A (p.Cys248Ser) c.913T>A (p.Cys305Ser) c.3028T>A (p.Cys1010Ser) | |
2 | g.26475923C>A | CA346112424 | OTOF | c.2982G>T (p.Gln994His) c.741G>T (p.Gln247His) c.912G>T (p.Gln304His) c.3027G>T (p.Gln1009His) | gnomAD v4 |
2 | g.26475923C>G | CA346112429 | OTOF | c.2982G>C (p.Gln994His) c.741G>C (p.Gln247His) c.912G>C (p.Gln304His) c.3027G>C (p.Gln1009His) | |
2 | g.26475923C>T | CA425359853 | OTOF | c.2982G>A (p.Gln994=) c.741G>A (p.Gln247=) c.912G>A (p.Gln304=) c.3027G>A (p.Gln1009=) | |
2 | g.26475924T>A | CA346112431 | OTOF | c.2981A>T (p.Gln994Leu) c.740A>T (p.Gln247Leu) c.911A>T (p.Gln304Leu) c.3026A>T (p.Gln1009Leu) | |
2 | g.26475924T>C | CA1563712 | OTOF | c.2981A>G (p.Gln994Arg) c.740A>G (p.Gln247Arg) c.911A>G (p.Gln304Arg) c.3026A>G (p.Gln1009Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475924T>G | CA346112432 | OTOF | c.2981A>C (p.Gln994Pro) c.740A>C (p.Gln247Pro) c.911A>C (p.Gln304Pro) c.3026A>C (p.Gln1009Pro) | |
2 | g.26475924T= | CA1239827677 | OTOF | c.2981A= (p.Gln994=) c.740A= (p.Gln247=) c.911A= (p.Gln304=) c.3026A= (p.Gln1009=) | |
2 | g.26475925G>A | CA346112434 | OTOF | c.2980C>T (p.Gln994Ter) c.739C>T (p.Gln247Ter) c.910C>T (p.Gln304Ter) c.3025C>T (p.Gln1009Ter) | |
2 | g.26475925G>C | CA346112435 | OTOF | c.2980C>G (p.Gln994Glu) c.739C>G (p.Gln247Glu) c.910C>G (p.Gln304Glu) c.3025C>G (p.Gln1009Glu) | |
2 | g.26475925G>T | CA346112437 | OTOF | c.2980C>A (p.Gln994Lys) c.739C>A (p.Gln247Lys) c.910C>A (p.Gln304Lys) c.3025C>A (p.Gln1009Lys) | |
2 | g.26475926A>C | CA346112441 | OTOF | c.2979T>G (p.Ser993Arg) c.738T>G (p.Ser246Arg) c.909T>G (p.Ser303Arg) c.3024T>G (p.Ser1008Arg) | |
2 | g.26475926A>G | CA425359859 | OTOF | c.2979T>C (p.Ser993=) c.738T>C (p.Ser246=) c.909T>C (p.Ser303=) c.3024T>C (p.Ser1008=) | |
2 | g.26475926A>T | CA346112445 | OTOF | c.2979T>A (p.Ser993Arg) c.738T>A (p.Ser246Arg) c.909T>A (p.Ser303Arg) c.3024T>A (p.Ser1008Arg) | gnomAD v4 |
2 | g.26475926_26475928delinsACT | CA1239827679 | OTOF | c.2977_2979delinsAGT (p.Ser993=) c.736_738delinsAGT (p.Ser246=) c.907_909delinsAGT (p.Ser303=) c.3022_3024delinsAGT (p.Ser1008=) | |
2 | g.26475927C>A | CA346112455 | OTOF | c.2978G>T (p.Ser993Ile) c.737G>T (p.Ser246Ile) c.908G>T (p.Ser303Ile) c.3023G>T (p.Ser1008Ile) | dbSNP |
2 | g.26475927C= | CA1239827681 | OTOF | c.2978G= (p.Ser993=) c.737G= (p.Ser246=) c.908G= (p.Ser303=) c.3023G= (p.Ser1008=) | |
2 | g.26475927C>G | CA346112452 | OTOF | c.2978G>C (p.Ser993Thr) c.737G>C (p.Ser246Thr) c.908G>C (p.Ser303Thr) c.3023G>C (p.Ser1008Thr) | |
2 | g.26475927C>T | CA346112457 | OTOF | c.2978G>A (p.Ser993Asn) c.737G>A (p.Ser246Asn) c.908G>A (p.Ser303Asn) c.3023G>A (p.Ser1008Asn) | dbSNP gnomAD v4 |
2 | g.26475929_26475930del | CA273658 | OTOF | c.2977_2978del (p.Gln994ValfsTer7) c.736_737del (p.Gln247ValfsTer7) c.907_908del (p.Gln304ValfsTer7) c.3022_3023del (p.Gln1009ValfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475928T>A | CA346112461 | OTOF | c.2977A>T (p.Ser993Cys) c.736A>T (p.Ser246Cys) c.907A>T (p.Ser303Cys) c.3022A>T (p.Ser1008Cys) | dbSNP gnomAD v4 |
2 | g.26475928T>C | CA346112460 | OTOF | c.2977A>G (p.Ser993Gly) c.736A>G (p.Ser246Gly) c.907A>G (p.Ser303Gly) c.3022A>G (p.Ser1008Gly) | gnomAD v4 |
2 | g.26475928T>G | CA346112462 | OTOF | c.2977A>C (p.Ser993Arg) c.736A>C (p.Ser246Arg) c.907A>C (p.Ser303Arg) c.3022A>C (p.Ser1008Arg) | |
2 | g.26475928T= | CA1239827682 | OTOF | c.2977A= (p.Ser993=) c.736A= (p.Ser246=) c.907A= (p.Ser303=) c.3022A= (p.Ser1008=) | |
2 | g.26475929C>A | CA346112465 | OTOF | c.2976G>T (p.Gln992His) c.735G>T (p.Gln245His) c.906G>T (p.Gln302His) c.3021G>T (p.Gln1007His) | |
2 | g.26475929C>G | CA346112468 | OTOF | c.2976G>C (p.Gln992His) c.735G>C (p.Gln245His) c.906G>C (p.Gln302His) c.3021G>C (p.Gln1007His) | gnomAD v4 |
2 | g.26475929C>T | CA425359864 | OTOF | c.2976G>A (p.Gln992=) c.735G>A (p.Gln245=) c.906G>A (p.Gln302=) c.3021G>A (p.Gln1007=) | |
2 | g.26475930T>A | CA346112472 | OTOF | c.2975A>T (p.Gln992Leu) c.734A>T (p.Gln245Leu) c.905A>T (p.Gln302Leu) c.3020A>T (p.Gln1007Leu) | gnomAD v4 |
2 | g.26475930T>C | CA346112487 | OTOF | c.2975A>G (p.Gln992Arg) c.734A>G (p.Gln245Arg) c.905A>G (p.Gln302Arg) c.3020A>G (p.Gln1007Arg) | gnomAD v4 |
2 | g.26475930T>G | CA346112482 | OTOF | c.2975A>C (p.Gln992Pro) c.734A>C (p.Gln245Pro) c.905A>C (p.Gln302Pro) c.3020A>C (p.Gln1007Pro) | |
2 | g.26475934_26475937del | CA2658237121 | OTOF | c.2972_2975del (p.Asn991ArgfsTer8) c.731_734del (p.Asn244ArgfsTer8) c.902_905del (p.Asn301ArgfsTer8) c.3017_3020del (p.Asn1006ArgfsTer8) | gnomAD v4 |
2 | g.26475931G>A | CA346112491 | OTOF | c.2974C>T (p.Gln992Ter) c.733C>T (p.Gln245Ter) c.904C>T (p.Gln302Ter) c.3019C>T (p.Gln1007Ter) | |
2 | g.26475931G>C | CA44397815 | OTOF | c.2974C>G (p.Gln992Glu) c.733C>G (p.Gln245Glu) c.904C>G (p.Gln302Glu) c.3019C>G (p.Gln1007Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475931G= | CA1239827684 | OTOF | c.2974C= (p.Gln992=) c.733C= (p.Gln245=) c.904C= (p.Gln302=) c.3019C= (p.Gln1007=) | |
2 | g.26475931G>T | CA346112497 | OTOF | c.2974C>A (p.Gln992Lys) c.733C>A (p.Gln245Lys) c.904C>A (p.Gln302Lys) c.3019C>A (p.Gln1007Lys) | |
2 | g.26475932A= | CA1239827685 | OTOF | c.2973T= (p.Asn991=) c.732T= (p.Asn244=) c.903T= (p.Asn301=) c.3018T= (p.Asn1006=) | |
2 | g.26475932A>C | CA346112501 | OTOF | c.2973T>G (p.Asn991Lys) c.732T>G (p.Asn244Lys) c.903T>G (p.Asn301Lys) c.3018T>G (p.Asn1006Lys) | |
2 | g.26475932A>G | CA425359872 | OTOF | c.2973T>C (p.Asn991=) c.732T>C (p.Asn244=) c.903T>C (p.Asn301=) c.3018T>C (p.Asn1006=) | |
2 | g.26475932A>T | CA346112508 | OTOF | c.2973T>A (p.Asn991Lys) c.732T>A (p.Asn244Lys) c.903T>A (p.Asn301Lys) c.3018T>A (p.Asn1006Lys) | dbSNP gnomAD v2 |
2 | g.26475933_26475953del | CA2658237122 | OTOF | c.2953_2973del (p.Ala985_Asn991del) c.712_732del (p.Ala238_Asn244del) c.883_903del (p.Ala295_Asn301del) c.2998_3018del (p.Ala1000_Asn1006del) | gnomAD v4 |
2 | g.26475933T>A | CA346112515 | OTOF | c.2972A>T (p.Asn991Ile) c.731A>T (p.Asn244Ile) c.902A>T (p.Asn301Ile) c.3017A>T (p.Asn1006Ile) | |
2 | g.26475933T>C | CA142836 | OTOF | c.2972A>G (p.Asn991Ser) c.731A>G (p.Asn244Ser) c.902A>G (p.Asn301Ser) c.3017A>G (p.Asn1006Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475933T>G | CA346112524 | OTOF | c.2972A>C (p.Asn991Thr) c.731A>C (p.Asn244Thr) c.902A>C (p.Asn301Thr) c.3017A>C (p.Asn1006Thr) | |
2 | g.26475933T= | CA1239827690 | OTOF | c.2972A= (p.Asn991=) c.731A= (p.Asn244=) c.902A= (p.Asn301=) c.3017A= (p.Asn1006=) | |
2 | g.26475934T>A | CA346112528 | OTOF | c.2971A>T (p.Asn991Tyr) c.730A>T (p.Asn244Tyr) c.901A>T (p.Asn301Tyr) c.3016A>T (p.Asn1006Tyr) | |
2 | g.26475934T>C | CA346112537 | OTOF | c.2971A>G (p.Asn991Asp) c.730A>G (p.Asn244Asp) c.901A>G (p.Asn301Asp) c.3016A>G (p.Asn1006Asp) | |
2 | g.26475934T>G | CA346112540 | OTOF | c.2971A>C (p.Asn991His) c.730A>C (p.Asn244His) c.901A>C (p.Asn301His) c.3016A>C (p.Asn1006His) | |
2 | g.26475935G>A | CA425359879 | OTOF | c.2970C>T (p.Ile990=) c.729C>T (p.Ile243=) c.900C>T (p.Ile300=) c.3015C>T (p.Ile1005=) | |
2 | g.26475935G>C | CA346112543 | OTOF | c.2970C>G (p.Ile990Met) c.729C>G (p.Ile243Met) c.900C>G (p.Ile300Met) c.3015C>G (p.Ile1005Met) | gnomAD v4 |
2 | g.26475935G>T | CA425359881 | OTOF | c.2970C>A (p.Ile990=) c.729C>A (p.Ile243=) c.900C>A (p.Ile300=) c.3015C>A (p.Ile1005=) | |
2 | g.26475936A>C | CA346112550 | OTOF | c.2969T>G (p.Ile990Ser) c.728T>G (p.Ile243Ser) c.899T>G (p.Ile300Ser) c.3014T>G (p.Ile1005Ser) | |
2 | g.26475936A>G | CA346112548 | OTOF | c.2969T>C (p.Ile990Thr) c.728T>C (p.Ile243Thr) c.899T>C (p.Ile300Thr) c.3014T>C (p.Ile1005Thr) | |
2 | g.26475936A>T | CA346112549 | OTOF | c.2969T>A (p.Ile990Asn) c.728T>A (p.Ile243Asn) c.899T>A (p.Ile300Asn) c.3014T>A (p.Ile1005Asn) | |
2 | g.26475937T>A | CA346112551 | OTOF | c.2968A>T (p.Ile990Phe) c.727A>T (p.Ile243Phe) c.898A>T (p.Ile300Phe) c.3013A>T (p.Ile1005Phe) | |
2 | g.26475937T>C | CA346112554 | OTOF | c.2968A>G (p.Ile990Val) c.727A>G (p.Ile243Val) c.898A>G (p.Ile300Val) c.3013A>G (p.Ile1005Val) | |
2 | g.26475937T>G | CA346112558 | OTOF | c.2968A>C (p.Ile990Leu) c.727A>C (p.Ile243Leu) c.898A>C (p.Ile300Leu) c.3013A>C (p.Ile1005Leu) | |
2 | g.26475937_26475940delinsTGAA | CA1239827695 | OTOF | c.2965_2968delinsTTCA (p.Phe989=) c.724_727delinsTTCA (p.Phe242=) c.895_898delinsTTCA (p.Phe299=) c.3010_3013delinsTTCA (p.Phe1004=) | |
2 | g.26475938G>A | CA425359892 | OTOF | c.2967C>T (p.Phe989=) c.726C>T (p.Phe242=) c.897C>T (p.Phe299=) c.3012C>T (p.Phe1004=) | |
2 | g.26475938G>C | CA346112562 | OTOF | c.2967C>G (p.Phe989Leu) c.726C>G (p.Phe242Leu) c.897C>G (p.Phe299Leu) c.3012C>G (p.Phe1004Leu) | |
2 | g.26475938G>T | CA346112563 | OTOF | c.2967C>A (p.Phe989Leu) c.726C>A (p.Phe242Leu) c.897C>A (p.Phe299Leu) c.3012C>A (p.Phe1004Leu) | |
2 | g.26475943_26475945del | CA425359896 | OTOF | c.2965_2967del (p.Phe989del) c.724_726del (p.Phe242del) c.895_897del (p.Phe299del) c.3010_3012del (p.Phe1004del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475939A>C | CA346112566 | OTOF | c.2966T>G (p.Phe989Cys) c.725T>G (p.Phe242Cys) c.896T>G (p.Phe299Cys) c.3011T>G (p.Phe1004Cys) | |
2 | g.26475939A>G | CA346112568 | OTOF | c.2966T>C (p.Phe989Ser) c.725T>C (p.Phe242Ser) c.896T>C (p.Phe299Ser) c.3011T>C (p.Phe1004Ser) | |
2 | g.26475939A>T | CA346112570 | OTOF | c.2966T>A (p.Phe989Tyr) c.725T>A (p.Phe242Tyr) c.896T>A (p.Phe299Tyr) c.3011T>A (p.Phe1004Tyr) | |
2 | g.26475940A>C | CA346112572 | OTOF | c.2965T>G (p.Phe989Val) c.724T>G (p.Phe242Val) c.895T>G (p.Phe299Val) c.3010T>G (p.Phe1004Val) | |
2 | g.26475940A>G | CA346112583 | OTOF | c.2965T>C (p.Phe989Leu) c.724T>C (p.Phe242Leu) c.895T>C (p.Phe299Leu) c.3010T>C (p.Phe1004Leu) | |
2 | g.26475940A>T | CA346112598 | OTOF | c.2965T>A (p.Phe989Ile) c.724T>A (p.Phe242Ile) c.895T>A (p.Phe299Ile) c.3010T>A (p.Phe1004Ile) | gnomAD v4 |
2 | g.26475941G>A | CA425359903 | OTOF | c.2964C>T (p.Phe988=) c.723C>T (p.Phe241=) c.894C>T (p.Phe298=) c.3009C>T (p.Phe1003=) | ClinVar dbSNP |
2 | g.26475941G>C | CA1563713 | OTOF | c.2964C>G (p.Phe988Leu) c.723C>G (p.Phe241Leu) c.894C>G (p.Phe298Leu) c.3009C>G (p.Phe1003Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475941G= | CA1239827698 | OTOF | c.2964C= (p.Phe988=) c.723C= (p.Phe241=) c.894C= (p.Phe298=) c.3009C= (p.Phe1003=) | |
2 | g.26475941G>T | CA346112607 | OTOF | c.2964C>A (p.Phe988Leu) c.723C>A (p.Phe241Leu) c.894C>A (p.Phe298Leu) c.3009C>A (p.Phe1003Leu) | |
2 | g.26475941dup | CA2842281627 | OTOF | c.2964dup (p.Phe989LeufsTer13) c.723dup (p.Phe242LeufsTer13) c.894dup (p.Phe299LeufsTer13) c.3009dup (p.Phe1004LeufsTer13) | |
2 | g.26475942A= | CA1239827699 | OTOF | c.2963T= (p.Phe988=) c.722T= (p.Phe241=) c.893T= (p.Phe298=) c.3008T= (p.Phe1003=) | |
2 | g.26475942A>C | CA1563714 | OTOF | c.2963T>G (p.Phe988Cys) c.722T>G (p.Phe241Cys) c.893T>G (p.Phe298Cys) c.3008T>G (p.Phe1003Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475942A>G | CA346112609 | OTOF | c.2963T>C (p.Phe988Ser) c.722T>C (p.Phe241Ser) c.893T>C (p.Phe298Ser) c.3008T>C (p.Phe1003Ser) | |
2 | g.26475942A>T | CA346112612 | OTOF | c.2963T>A (p.Phe988Tyr) c.722T>A (p.Phe241Tyr) c.893T>A (p.Phe298Tyr) c.3008T>A (p.Phe1003Tyr) | |
2 | g.26475943A= | CA1239827701 | OTOF | c.2962T= (p.Phe988=) c.721T= (p.Phe241=) c.892T= (p.Phe298=) c.3007T= (p.Phe1003=) | |
2 | g.26475943A>C | CA44397821 | OTOF | c.2962T>G (p.Phe988Val) c.721T>G (p.Phe241Val) c.892T>G (p.Phe298Val) c.3007T>G (p.Phe1003Val) | dbSNP gnomAD v4 |
2 | g.26475943A>G | CA346112618 | OTOF | c.2962T>C (p.Phe988Leu) c.721T>C (p.Phe241Leu) c.892T>C (p.Phe298Leu) c.3007T>C (p.Phe1003Leu) | |
2 | g.26475943A>T | CA346112622 | OTOF | c.2962T>A (p.Phe988Ile) c.721T>A (p.Phe241Ile) c.892T>A (p.Phe298Ile) c.3007T>A (p.Phe1003Ile) | |
2 | g.26475944G>A | CA425359910 | OTOF | c.2961C>T (p.Val987=) c.720C>T (p.Val240=) c.891C>T (p.Val297=) c.3006C>T (p.Val1002=) | |
2 | g.26475944G>C | CA425359911 | OTOF | c.2961C>G (p.Val987=) c.720C>G (p.Val240=) c.891C>G (p.Val297=) c.3006C>G (p.Val1002=) | |
2 | g.26475944G>T | CA425359912 | OTOF | c.2961C>A (p.Val987=) c.720C>A (p.Val240=) c.891C>A (p.Val297=) c.3006C>A (p.Val1002=) | |
2 | g.26475945A>C | CA346112627 | OTOF | c.2960T>G (p.Val987Gly) c.719T>G (p.Val240Gly) c.890T>G (p.Val297Gly) c.3005T>G (p.Val1002Gly) | |
2 | g.26475945A>G | CA346112631 | OTOF | c.2960T>C (p.Val987Ala) c.719T>C (p.Val240Ala) c.890T>C (p.Val297Ala) c.3005T>C (p.Val1002Ala) | |
2 | g.26475945A>T | CA346112634 | OTOF | c.2960T>A (p.Val987Asp) c.719T>A (p.Val240Asp) c.890T>A (p.Val297Asp) c.3005T>A (p.Val1002Asp) | |
2 | g.26475946C>A | CA346112636 | OTOF | c.2959G>T (p.Val987Phe) c.718G>T (p.Val240Phe) c.889G>T (p.Val297Phe) c.3004G>T (p.Val1002Phe) | |
2 | g.26475946C= | CA1239827704 | OTOF | c.2959G= (p.Val987=) c.718G= (p.Val240=) c.889G= (p.Val297=) c.3004G= (p.Val1002=) | |
2 | g.26475946C>G | CA346112640 | OTOF | c.2959G>C (p.Val987Leu) c.718G>C (p.Val240Leu) c.889G>C (p.Val297Leu) c.3004G>C (p.Val1002Leu) | |
2 | g.26475946C>T | CA1563715 | OTOF | c.2959G>A (p.Val987Ile) c.718G>A (p.Val240Ile) c.889G>A (p.Val297Ile) c.3004G>A (p.Val1002Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26475947G>A | CA44397825 | OTOF | c.2958C>T (p.Arg986=) c.717C>T (p.Arg239=) c.888C>T (p.Arg296=) c.3003C>T (p.Arg1001=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475947G>C | CA425359917 | OTOF | c.2958C>G (p.Arg986=) c.717C>G (p.Arg239=) c.888C>G (p.Arg296=) c.3003C>G (p.Arg1001=) | |
2 | g.26475947G= | CA1239827706 | OTOF | c.2958C= (p.Arg986=) c.717C= (p.Arg239=) c.888C= (p.Arg296=) c.3003C= (p.Arg1001=) | |
2 | g.26475947G>T | CA44397827 | OTOF | c.2958C>A (p.Arg986=) c.717C>A (p.Arg239=) c.888C>A (p.Arg296=) c.3003C>A (p.Arg1001=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475948C>A | CA346112644 | OTOF | c.2957G>T (p.Arg986Leu) c.716G>T (p.Arg239Leu) c.887G>T (p.Arg296Leu) c.3002G>T (p.Arg1001Leu) | dbSNP |
2 | g.26475948C= | CA1239827708 | OTOF | c.2957G= (p.Arg986=) c.716G= (p.Arg239=) c.887G= (p.Arg296=) c.3002G= (p.Arg1001=) | |
2 | g.26475948C>G | CA346112643 | OTOF | c.2957G>C (p.Arg986Pro) c.716G>C (p.Arg239Pro) c.887G>C (p.Arg296Pro) c.3002G>C (p.Arg1001Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475948C>T | CA1563716 | OTOF | c.2957G>A (p.Arg986His) c.716G>A (p.Arg239His) c.887G>A (p.Arg296His) c.3002G>A (p.Arg1001His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475949G>A | CA1563717 | OTOF | c.2956C>T (p.Arg986Cys) c.715C>T (p.Arg239Cys) c.886C>T (p.Arg296Cys) c.3001C>T (p.Arg1001Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475949G>C | CA346112650 | OTOF | c.2956C>G (p.Arg986Gly) c.715C>G (p.Arg239Gly) c.886C>G (p.Arg296Gly) c.3001C>G (p.Arg1001Gly) | dbSNP gnomAD v4 |
2 | g.26475949G= | CA1239827711 | OTOF | c.2956C= (p.Arg986=) c.715C= (p.Arg239=) c.886C= (p.Arg296=) c.3001C= (p.Arg1001=) | |
2 | g.26475949G>T | CA346112654 | OTOF | c.2956C>A (p.Arg986Ser) c.715C>A (p.Arg239Ser) c.886C>A (p.Arg296Ser) c.3001C>A (p.Arg1001Ser) | |
2 | g.26475951del | CA2697547882 | OTOF | c.2956del (p.Arg986AlafsTer14) c.715del (p.Arg239AlafsTer14) c.886del (p.Arg296AlafsTer14) c.3001del (p.Arg1001AlafsTer14) | ClinVar |
2 | g.26475950G>A | CA1563718 | OTOF | c.2955C>T (p.Ala985=) c.714C>T (p.Ala238=) c.885C>T (p.Ala295=) c.3000C>T (p.Ala1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475950G>C | CA425359921 | OTOF | c.2955C>G (p.Ala985=) c.714C>G (p.Ala238=) c.885C>G (p.Ala295=) c.3000C>G (p.Ala1000=) | |
2 | g.26475950G= | CA1239827713 | OTOF | c.2955C= (p.Ala985=) c.714C= (p.Ala238=) c.885C= (p.Ala295=) c.3000C= (p.Ala1000=) | |
2 | g.26475950G>T | CA425359923 | OTOF | c.2955C>A (p.Ala985=) c.714C>A (p.Ala238=) c.885C>A (p.Ala295=) c.3000C>A (p.Ala1000=) | |
2 | g.26475951G>A | CA1563719 | OTOF | c.2954C>T (p.Ala985Val) c.713C>T (p.Ala238Val) c.884C>T (p.Ala295Val) c.2999C>T (p.Ala1000Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475951G>C | CA346112656 | OTOF | c.2954C>G (p.Ala985Gly) c.713C>G (p.Ala238Gly) c.884C>G (p.Ala295Gly) c.2999C>G (p.Ala1000Gly) | |
2 | g.26475951G= | CA1239827715 | OTOF | c.2954C= (p.Ala985=) c.713C= (p.Ala238=) c.884C= (p.Ala295=) c.2999C= (p.Ala1000=) | |
2 | g.26475951G>T | CA346112659 | OTOF | c.2954C>A (p.Ala985Asp) c.713C>A (p.Ala238Asp) c.884C>A (p.Ala295Asp) c.2999C>A (p.Ala1000Asp) | |
2 | g.26475952C>A | CA346112679 | OTOF | c.2953G>T (p.Ala985Ser) c.712G>T (p.Ala238Ser) c.883G>T (p.Ala295Ser) c.2998G>T (p.Ala1000Ser) | |
2 | g.26475952C>G | CA346112680 | OTOF | c.2953G>C (p.Ala985Pro) c.712G>C (p.Ala238Pro) c.883G>C (p.Ala295Pro) c.2998G>C (p.Ala1000Pro) | |
2 | g.26475952C>T | CA346112681 | OTOF | c.2953G>A (p.Ala985Thr) c.712G>A (p.Ala238Thr) c.883G>A (p.Ala295Thr) c.2998G>A (p.Ala1000Thr) | gnomAD v4 |
2 | g.26475953A= | CA1239827716 | OTOF | c.2952T= (p.Phe984=) c.711T= (p.Phe237=) c.882T= (p.Phe294=) c.2997T= (p.Phe999=) | |
2 | g.26475953A>C | CA346112683 | OTOF | c.2952T>G (p.Phe984Leu) c.711T>G (p.Phe237Leu) c.882T>G (p.Phe294Leu) c.2997T>G (p.Phe999Leu) | |
2 | g.26475953A>G | CA425359929 | OTOF | c.2952T>C (p.Phe984=) c.711T>C (p.Phe237=) c.882T>C (p.Phe294=) c.2997T>C (p.Phe999=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475953A>T | CA346112685 | OTOF | c.2952T>A (p.Phe984Leu) c.711T>A (p.Phe237Leu) c.882T>A (p.Phe294Leu) c.2997T>A (p.Phe999Leu) | |
2 | g.26475955dup | CA2839064830 | OTOF | c.2952dup (p.Ala985CysfsTer17) c.711dup (p.Ala238CysfsTer17) c.882dup (p.Ala295CysfsTer17) c.2997dup (p.Ala1000CysfsTer17) | |
2 | g.26475954A>C | CA346112690 | OTOF | c.2951T>G (p.Phe984Cys) c.710T>G (p.Phe237Cys) c.881T>G (p.Phe294Cys) c.2996T>G (p.Phe999Cys) | |
2 | g.26475954A>G | CA346112693 | OTOF | c.2951T>C (p.Phe984Ser) c.710T>C (p.Phe237Ser) c.881T>C (p.Phe294Ser) c.2996T>C (p.Phe999Ser) | gnomAD v4 |
2 | g.26475954A>T | CA346112689 | OTOF | c.2951T>A (p.Phe984Tyr) c.710T>A (p.Phe237Tyr) c.881T>A (p.Phe294Tyr) c.2996T>A (p.Phe999Tyr) | |
2 | g.26475955A>C | CA346112697 | OTOF | c.2950T>G (p.Phe984Val) c.709T>G (p.Phe237Val) c.880T>G (p.Phe294Val) c.2995T>G (p.Phe999Val) | gnomAD v4 |
2 | g.26475955A>G | CA346112698 | OTOF | c.2950T>C (p.Phe984Leu) c.709T>C (p.Phe237Leu) c.880T>C (p.Phe294Leu) c.2995T>C (p.Phe999Leu) | |
2 | g.26475955A>T | CA346112700 | OTOF | c.2950T>A (p.Phe984Ile) c.709T>A (p.Phe237Ile) c.880T>A (p.Phe294Ile) c.2995T>A (p.Phe999Ile) | |
2 | g.26475956G>A | CA142834 | OTOF | c.2949C>T (p.Pro983=) c.708C>T (p.Pro236=) c.879C>T (p.Pro293=) c.2994C>T (p.Pro998=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475956G>C | CA425359935 | OTOF | c.2949C>G (p.Pro983=) c.708C>G (p.Pro236=) c.879C>G (p.Pro293=) c.2994C>G (p.Pro998=) | |
2 | g.26475956G= | CA1239827719 | OTOF | c.2949C= (p.Pro983=) c.708C= (p.Pro236=) c.879C= (p.Pro293=) c.2994C= (p.Pro998=) | |
2 | g.26475956G>T | CA425359937 | OTOF | c.2949C>A (p.Pro983=) c.708C>A (p.Pro236=) c.879C>A (p.Pro293=) c.2994C>A (p.Pro998=) | gnomAD v4 |
2 | g.26475957G>A | CA346112712 | OTOF | c.2948C>T (p.Pro983Leu) c.707C>T (p.Pro236Leu) c.878C>T (p.Pro293Leu) c.2993C>T (p.Pro998Leu) | |
2 | g.26475957G>C | CA346112717 | OTOF | c.2948C>G (p.Pro983Arg) c.707C>G (p.Pro236Arg) c.878C>G (p.Pro293Arg) c.2993C>G (p.Pro998Arg) | |
2 | g.26475957G>T | CA346112719 | OTOF | c.2948C>A (p.Pro983His) c.707C>A (p.Pro236His) c.878C>A (p.Pro293His) c.2993C>A (p.Pro998His) | |
2 | g.26475958G>A | CA346112722 | OTOF | c.2947C>T (p.Pro983Ser) c.706C>T (p.Pro236Ser) c.877C>T (p.Pro293Ser) c.2992C>T (p.Pro998Ser) | gnomAD v4 |
2 | g.26475958G>C | CA346112749 | OTOF | c.2947C>G (p.Pro983Ala) c.706C>G (p.Pro236Ala) c.877C>G (p.Pro293Ala) c.2992C>G (p.Pro998Ala) | |
2 | g.26475958G>T | CA346112734 | OTOF | c.2947C>A (p.Pro983Thr) c.706C>A (p.Pro236Thr) c.877C>A (p.Pro293Thr) c.2992C>A (p.Pro998Thr) | gnomAD v4 |
2 | g.26475959_26475965del | CA2697547883 | OTOF | c.2941_2947del (p.Ser981ProfsTer17) c.700_706del (p.Ser234ProfsTer17) c.871_877del (p.Ser291ProfsTer17) c.2986_2992del (p.Ser996ProfsTer17) | ClinVar |
2 | g.26475959G>A | CA425359939 | OTOF | c.2946C>T (p.Asp982=) c.705C>T (p.Asp235=) c.876C>T (p.Asp292=) c.2991C>T (p.Asp997=) | dbSNP gnomAD v4 |
2 | g.26475959G>C | CA346112754 | OTOF | c.2946C>G (p.Asp982Glu) c.705C>G (p.Asp235Glu) c.876C>G (p.Asp292Glu) c.2991C>G (p.Asp997Glu) | |
2 | g.26475959G= | CA1239827722 | OTOF | c.2946C= (p.Asp982=) c.705C= (p.Asp235=) c.876C= (p.Asp292=) c.2991C= (p.Asp997=) | |
2 | g.26475959G>T | CA346112758 | OTOF | c.2946C>A (p.Asp982Glu) c.705C>A (p.Asp235Glu) c.876C>A (p.Asp292Glu) c.2991C>A (p.Asp997Glu) | |
2 | g.26475960T>A | CA346112762 | OTOF | c.2945A>T (p.Asp982Val) c.704A>T (p.Asp235Val) c.875A>T (p.Asp292Val) c.2990A>T (p.Asp997Val) | |
2 | g.26475960T>C | CA346112785 | OTOF | c.2945A>G (p.Asp982Gly) c.704A>G (p.Asp235Gly) c.875A>G (p.Asp292Gly) c.2990A>G (p.Asp997Gly) | |
2 | g.26475960T>G | CA346112790 | OTOF | c.2945A>C (p.Asp982Ala) c.704A>C (p.Asp235Ala) c.875A>C (p.Asp292Ala) c.2990A>C (p.Asp997Ala) | dbSNP |
2 | g.26475960T= | CA1239827724 | OTOF | c.2945A= (p.Asp982=) c.704A= (p.Asp235=) c.875A= (p.Asp292=) c.2990A= (p.Asp997=) | |
2 | g.26475961C>A | CA346112794 | OTOF | c.2944G>T (p.Asp982Tyr) c.703G>T (p.Asp235Tyr) c.874G>T (p.Asp292Tyr) c.2989G>T (p.Asp997Tyr) | |
2 | g.26475961C>G | CA346112811 | OTOF | c.2944G>C (p.Asp982His) c.703G>C (p.Asp235His) c.874G>C (p.Asp292His) c.2989G>C (p.Asp997His) | |
2 | g.26475961C>T | CA346112806 | OTOF | c.2944G>A (p.Asp982Asn) c.703G>A (p.Asp235Asn) c.874G>A (p.Asp292Asn) c.2989G>A (p.Asp997Asn) | |
2 | g.26475962T>A | CA425359944 | OTOF | c.2943A>T (p.Ser981=) c.702A>T (p.Ser234=) c.873A>T (p.Ser291=) c.2988A>T (p.Ser996=) | |
2 | g.26475962T>C | CA425359947 | OTOF | c.2943A>G (p.Ser981=) c.702A>G (p.Ser234=) c.873A>G (p.Ser291=) c.2988A>G (p.Ser996=) | dbSNP |
2 | g.26475962T>G | CA425359949 | OTOF | c.2943A>C (p.Ser981=) c.702A>C (p.Ser234=) c.873A>C (p.Ser291=) c.2988A>C (p.Ser996=) | |
2 | g.26475962T= | CA1239827726 | OTOF | c.2943A= (p.Ser981=) c.702A= (p.Ser234=) c.873A= (p.Ser291=) c.2988A= (p.Ser996=) | |
2 | g.26475962_26475963del | CA2842281628 | OTOF | c.2942_2943del (p.Ser981Ter) c.701_702del (p.Ser234Ter) c.872_873del (p.Ser291Ter) c.2987_2988del (p.Ser996Ter) | |
2 | g.26475963G>A | CA346112812 | OTOF | c.2942C>T (p.Ser981Leu) c.701C>T (p.Ser234Leu) c.872C>T (p.Ser291Leu) c.2987C>T (p.Ser996Leu) | |
2 | g.26475963G>C | CA346112813 | OTOF | c.2942C>G (p.Ser981Ter) c.701C>G (p.Ser234Ter) c.872C>G (p.Ser291Ter) c.2987C>G (p.Ser996Ter) | |
2 | g.26475963G>T | CA346112822 | OTOF | c.2942C>A (p.Ser981Ter) c.701C>A (p.Ser234Ter) c.872C>A (p.Ser291Ter) c.2987C>A (p.Ser996Ter) | |
2 | g.26475964A>C | CA346112841 | OTOF | c.2941T>G (p.Ser981Ala) c.700T>G (p.Ser234Ala) c.871T>G (p.Ser291Ala) c.2986T>G (p.Ser996Ala) | |
2 | g.26475964A>G | CA346112843 | OTOF | c.2941T>C (p.Ser981Pro) c.700T>C (p.Ser234Pro) c.871T>C (p.Ser291Pro) c.2986T>C (p.Ser996Pro) | |
2 | g.26475964A>T | CA346112847 | OTOF | c.2941T>A (p.Ser981Thr) c.700T>A (p.Ser234Thr) c.871T>A (p.Ser291Thr) c.2986T>A (p.Ser996Thr) | gnomAD v4 |
2 | g.26475965G>A | CA425359954 | OTOF | c.2940C>T (p.Leu980=) c.699C>T (p.Leu233=) c.870C>T (p.Leu290=) c.2985C>T (p.Leu995=) | |
2 | g.26475965G>C | CA425359955 | OTOF | c.2940C>G (p.Leu980=) c.699C>G (p.Leu233=) c.870C>G (p.Leu290=) c.2985C>G (p.Leu995=) | gnomAD v4 |
2 | g.26475965G>T | CA425359956 | OTOF | c.2940C>A (p.Leu980=) c.699C>A (p.Leu233=) c.870C>A (p.Leu290=) c.2985C>A (p.Leu995=) | |
2 | g.26475965_26475987delinsGAGTCCGCTGCTGTCGGCGGCAA | CA1239827727 | OTOF | c.2918_2940delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe973=) c.677_699delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe226=) c.848_870delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe283=) c.2963_2985delinsTTGCCGCCGACAGCAGCGGACTC (p.Phe988=) | |
2 | g.26475966A>C | CA346112851 | OTOF | c.2939T>G (p.Leu980Arg) c.698T>G (p.Leu233Arg) c.869T>G (p.Leu290Arg) c.2984T>G (p.Leu995Arg) | |
2 | g.26475966A>G | CA346112852 | OTOF | c.2939T>C (p.Leu980Pro) c.698T>C (p.Leu233Pro) c.869T>C (p.Leu290Pro) c.2984T>C (p.Leu995Pro) | |
2 | g.26475966A>T | CA346112855 | OTOF | c.2939T>A (p.Leu980His) c.698T>A (p.Leu233His) c.869T>A (p.Leu290His) c.2984T>A (p.Leu995His) | |
2 | g.26475968_26475989del | CA531761809 | OTOF | c.2918_2939del (p.Phe973SerfsTer20) c.677_698del (p.Phe226SerfsTer20) c.848_869del (p.Phe283SerfsTer20) c.2963_2984del (p.Phe988SerfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475967G>A | CA346112861 | OTOF | c.2938C>T (p.Leu980Phe) c.697C>T (p.Leu233Phe) c.868C>T (p.Leu290Phe) c.2983C>T (p.Leu995Phe) | |
2 | g.26475967G>C | CA346112870 | OTOF | c.2938C>G (p.Leu980Val) c.697C>G (p.Leu233Val) c.868C>G (p.Leu290Val) c.2983C>G (p.Leu995Val) | |
2 | g.26475967G>T | CA346112877 | OTOF | c.2938C>A (p.Leu980Ile) c.697C>A (p.Leu233Ile) c.868C>A (p.Leu290Ile) c.2983C>A (p.Leu995Ile) | |
2 | g.26475968T>A | CA425359959 | OTOF | c.2937A>T (p.Gly979=) c.696A>T (p.Gly232=) c.867A>T (p.Gly289=) c.2982A>T (p.Gly994=) | |
2 | g.26475968T>C | CA425359960 | OTOF | c.2937A>G (p.Gly979=) c.696A>G (p.Gly232=) c.867A>G (p.Gly289=) c.2982A>G (p.Gly994=) | |
2 | g.26475968T>G | CA425359961 | OTOF | c.2937A>C (p.Gly979=) c.696A>C (p.Gly232=) c.867A>C (p.Gly289=) c.2982A>C (p.Gly994=) | |
2 | g.26475969C>A | CA346112881 | OTOF | c.2936G>T (p.Gly979Val) c.695G>T (p.Gly232Val) c.866G>T (p.Gly289Val) c.2981G>T (p.Gly994Val) | |
2 | g.26475969C= | CA1239827730 | OTOF | c.2936G= (p.Gly979=) c.695G= (p.Gly232=) c.866G= (p.Gly289=) c.2981G= (p.Gly994=) | |
2 | g.26475969C>G | CA346112883 | OTOF | c.2936G>C (p.Gly979Ala) c.695G>C (p.Gly232Ala) c.866G>C (p.Gly289Ala) c.2981G>C (p.Gly994Ala) | |
2 | g.26475969C>T | CA346112882 | OTOF | c.2936G>A (p.Gly979Glu) c.695G>A (p.Gly232Glu) c.866G>A (p.Gly289Glu) c.2981G>A (p.Gly994Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475970dup | CA2842281629 | OTOF | c.2936dup (p.Leu980ThrfsTer22) c.695dup (p.Leu233ThrfsTer22) c.866dup (p.Leu290ThrfsTer22) c.2981dup (p.Leu995ThrfsTer22) | |
2 | g.26475970C>A | CA346112887 | OTOF | c.2935G>T (p.Gly979Ter) c.694G>T (p.Gly232Ter) c.865G>T (p.Gly289Ter) c.2980G>T (p.Gly994Ter) | |
2 | g.26475970C= | CA1239827732 | OTOF | c.2935G= (p.Gly979=) c.694G= (p.Gly232=) c.865G= (p.Gly289=) c.2980G= (p.Gly994=) | |
2 | g.26475970C>G | CA346112895 | OTOF | c.2935G>C (p.Gly979Arg) c.694G>C (p.Gly232Arg) c.865G>C (p.Gly289Arg) c.2980G>C (p.Gly994Arg) | gnomAD v4 |
2 | g.26475970C>T | CA346112908 | OTOF | c.2935G>A (p.Gly979Arg) c.694G>A (p.Gly232Arg) c.865G>A (p.Gly289Arg) c.2980G>A (p.Gly994Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475971G>A | CA1563720 | OTOF | c.2934C>T (p.Ser978=) c.693C>T (p.Ser231=) c.864C>T (p.Ser288=) c.2979C>T (p.Ser993=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475971G>C | CA346112940 | OTOF | c.2934C>G (p.Ser978Arg) c.693C>G (p.Ser231Arg) c.864C>G (p.Ser288Arg) c.2979C>G (p.Ser993Arg) | |
2 | g.26475971G= | CA1239827734 | OTOF | c.2934C= (p.Ser978=) c.693C= (p.Ser231=) c.864C= (p.Ser288=) c.2979C= (p.Ser993=) | |
2 | g.26475971G>T | CA346112941 | OTOF | c.2934C>A (p.Ser978Arg) c.693C>A (p.Ser231Arg) c.864C>A (p.Ser288Arg) c.2979C>A (p.Ser993Arg) | |
2 | g.26475972C>A | CA346112942 | OTOF | c.2933G>T (p.Ser978Ile) c.692G>T (p.Ser231Ile) c.863G>T (p.Ser288Ile) c.2978G>T (p.Ser993Ile) | |
2 | g.26475972C= | CA1239827736 | OTOF | c.2933G= (p.Ser978=) c.692G= (p.Ser231=) c.863G= (p.Ser288=) c.2978G= (p.Ser993=) | |
2 | g.26475972C>G | CA346112949 | OTOF | c.2933G>C (p.Ser978Thr) c.692G>C (p.Ser231Thr) c.863G>C (p.Ser288Thr) c.2978G>C (p.Ser993Thr) | |
2 | g.26475972C>T | CA44397833 | OTOF | c.2933G>A (p.Ser978Asn) c.692G>A (p.Ser231Asn) c.863G>A (p.Ser288Asn) c.2978G>A (p.Ser993Asn) | dbSNP |
2 | g.26475973T>A | CA346112956 | OTOF | c.2932A>T (p.Ser978Cys) c.691A>T (p.Ser231Cys) c.862A>T (p.Ser288Cys) c.2977A>T (p.Ser993Cys) | |
2 | g.26475973T>C | CA346112959 | OTOF | c.2932A>G (p.Ser978Gly) c.691A>G (p.Ser231Gly) c.862A>G (p.Ser288Gly) c.2977A>G (p.Ser993Gly) | |
2 | g.26475973T>G | CA346112993 | OTOF | c.2932A>C (p.Ser978Arg) c.691A>C (p.Ser231Arg) c.862A>C (p.Ser288Arg) c.2977A>C (p.Ser993Arg) | |
2 | g.26475974G>A | CA1563721 | OTOF | c.2931C>T (p.Ser977=) c.690C>T (p.Ser230=) c.861C>T (p.Ser287=) c.2976C>T (p.Ser992=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475974G>C | CA346113008 | OTOF | c.2931C>G (p.Ser977Arg) c.690C>G (p.Ser230Arg) c.861C>G (p.Ser287Arg) c.2976C>G (p.Ser992Arg) | |
2 | g.26475974G= | CA1239827738 | OTOF | c.2931C= (p.Ser977=) c.690C= (p.Ser230=) c.861C= (p.Ser287=) c.2976C= (p.Ser992=) | |
2 | g.26475974G>T | CA346112998 | OTOF | c.2931C>A (p.Ser977Arg) c.690C>A (p.Ser230Arg) c.861C>A (p.Ser287Arg) c.2976C>A (p.Ser992Arg) | |
2 | g.26475976_26475982del | CA2658237139 | OTOF | c.2925_2931del (p.Asp976AlafsTer22) c.684_690del (p.Asp229AlafsTer22) c.855_861del (p.Asp286AlafsTer22) c.2970_2976del (p.Asp991AlafsTer22) | gnomAD v4 |
2 | g.26475975C>A | CA346113015 | OTOF | c.2930G>T (p.Ser977Ile) c.689G>T (p.Ser230Ile) c.860G>T (p.Ser287Ile) c.2975G>T (p.Ser992Ile) | |
2 | g.26475975C= | CA1239827740 | OTOF | c.2930G= (p.Ser977=) c.689G= (p.Ser230=) c.860G= (p.Ser287=) c.2975G= (p.Ser992=) | |
2 | g.26475975C>G | CA346113017 | OTOF | c.2930G>C (p.Ser977Thr) c.689G>C (p.Ser230Thr) c.860G>C (p.Ser287Thr) c.2975G>C (p.Ser992Thr) | |
2 | g.26475975C>T | CA346113030 | OTOF | c.2930G>A (p.Ser977Asn) c.689G>A (p.Ser230Asn) c.860G>A (p.Ser287Asn) c.2975G>A (p.Ser992Asn) | dbSNP |
2 | g.26475976T>A | CA346113032 | OTOF | c.2929A>T (p.Ser977Cys) c.688A>T (p.Ser230Cys) c.859A>T (p.Ser287Cys) c.2974A>T (p.Ser992Cys) | |
2 | g.26475976T>C | CA346113035 | OTOF | c.2929A>G (p.Ser977Gly) c.688A>G (p.Ser230Gly) c.859A>G (p.Ser287Gly) c.2974A>G (p.Ser992Gly) | |
2 | g.26475976T>G | CA346113040 | OTOF | c.2929A>C (p.Ser977Arg) c.688A>C (p.Ser230Arg) c.859A>C (p.Ser287Arg) c.2974A>C (p.Ser992Arg) | |
2 | g.26475977G>A | CA1563722 | OTOF | c.2928C>T (p.Asp976=) c.687C>T (p.Asp229=) c.858C>T (p.Asp286=) c.2973C>T (p.Asp991=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475977G>C | CA346113046 | OTOF | c.2928C>G (p.Asp976Glu) c.687C>G (p.Asp229Glu) c.858C>G (p.Asp286Glu) c.2973C>G (p.Asp991Glu) | |
2 | g.26475977G= | CA1239827744 | OTOF | c.2928C= (p.Asp976=) c.687C= (p.Asp229=) c.858C= (p.Asp286=) c.2973C= (p.Asp991=) | |
2 | g.26475977G>T | CA346113059 | OTOF | c.2928C>A (p.Asp976Glu) c.687C>A (p.Asp229Glu) c.858C>A (p.Asp286Glu) c.2973C>A (p.Asp991Glu) | dbSNP |
2 | g.26475978T>A | CA346113066 | OTOF | c.2927A>T (p.Asp976Val) c.686A>T (p.Asp229Val) c.857A>T (p.Asp286Val) c.2972A>T (p.Asp991Val) | |
2 | g.26475978T>C | CA346113073 | OTOF | c.2927A>G (p.Asp976Gly) c.686A>G (p.Asp229Gly) c.857A>G (p.Asp286Gly) c.2972A>G (p.Asp991Gly) | |
2 | g.26475978T>G | CA346113089 | OTOF | c.2927A>C (p.Asp976Ala) c.686A>C (p.Asp229Ala) c.857A>C (p.Asp286Ala) c.2972A>C (p.Asp991Ala) | |
2 | g.26475979C>A | CA346113106 | OTOF | c.2926G>T (p.Asp976Tyr) c.685G>T (p.Asp229Tyr) c.856G>T (p.Asp286Tyr) c.2971G>T (p.Asp991Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475979C= | CA1239827747 | OTOF | c.2926G= (p.Asp976=) c.685G= (p.Asp229=) c.856G= (p.Asp286=) c.2971G= (p.Asp991=) | |
2 | g.26475979C>G | CA346113105 | OTOF | c.2926G>C (p.Asp976His) c.685G>C (p.Asp229His) c.856G>C (p.Asp286His) c.2971G>C (p.Asp991His) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26475979C>T | CA1563723 | OTOF | c.2926G>A (p.Asp976Asn) c.685G>A (p.Asp229Asn) c.856G>A (p.Asp286Asn) c.2971G>A (p.Asp991Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475980G>A | CA1563724 | OTOF | c.2925C>T (p.Ala975=) c.684C>T (p.Ala228=) c.855C>T (p.Ala285=) c.2970C>T (p.Ala990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26475980G>C | CA425359979 | OTOF | c.2925C>G (p.Ala975=) c.684C>G (p.Ala228=) c.855C>G (p.Ala285=) c.2970C>G (p.Ala990=) | |
2 | g.26475980G= | CA1239827749 | OTOF | c.2925C= (p.Ala975=) c.684C= (p.Ala228=) c.855C= (p.Ala285=) c.2970C= (p.Ala990=) | |
2 | g.26475980G>T | CA425359982 | OTOF | c.2925C>A (p.Ala975=) c.684C>A (p.Ala228=) c.855C>A (p.Ala285=) c.2970C>A (p.Ala990=) | gnomAD v4 |
2 | g.26475981G>A | CA44397837 | OTOF | c.2924C>T (p.Ala975Val) c.683C>T (p.Ala228Val) c.854C>T (p.Ala285Val) c.2969C>T (p.Ala990Val) | ClinVar dbSNP gnomAD v4 |
2 | g.26475981G>C | CA346113124 | OTOF | c.2924C>G (p.Ala975Gly) c.683C>G (p.Ala228Gly) c.854C>G (p.Ala285Gly) c.2969C>G (p.Ala990Gly) | |
2 | g.26475981G= | CA1239827752 | OTOF | c.2924C= (p.Ala975=) c.683C= (p.Ala228=) c.854C= (p.Ala285=) c.2969C= (p.Ala990=) | |
2 | g.26475981G>T | CA346113126 | OTOF | c.2924C>A (p.Ala975Asp) c.683C>A (p.Ala228Asp) c.854C>A (p.Ala285Asp) c.2969C>A (p.Ala990Asp) | |
2 | g.26475981_26476000delinsGCGGCAAAGAGGCTGCGGGC | CA1239827751 | OTOF | c.2905_2924delinsGCCCGCAGCCTCTTTGCCGC (p.Ala969=) c.664_683delinsGCCCGCAGCCTCTTTGCCGC (p.Ala222=) c.835_854delinsGCCCGCAGCCTCTTTGCCGC (p.Ala279=) c.2950_2969delinsGCCCGCAGCCTCTTTGCCGC (p.Ala984=) | |
2 | g.26475982C>A | CA346113129 | OTOF | c.2923G>T (p.Ala975Ser) c.682G>T (p.Ala228Ser) c.853G>T (p.Ala285Ser) c.2968G>T (p.Ala990Ser) | |
2 | g.26475982C= | CA1239827754 | OTOF | c.2923G= (p.Ala975=) c.682G= (p.Ala228=) c.853G= (p.Ala285=) c.2968G= (p.Ala990=) | |
2 | g.26475982C>G | CA346113136 | OTOF | c.2923G>C (p.Ala975Pro) c.682G>C (p.Ala228Pro) c.853G>C (p.Ala285Pro) c.2968G>C (p.Ala990Pro) | |
2 | g.26475982C>T | CA1563725 | OTOF | c.2923G>A (p.Ala975Thr) c.682G>A (p.Ala228Thr) c.853G>A (p.Ala285Thr) c.2968G>A (p.Ala990Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475982_26476000delinsTGCGCTCGGAG | CA345111 | OTOF | c.2905_2923delinsCTCCGAGCGCA (p.Ala969LeufsTer30) c.664_682delinsCTCCGAGCGCA (p.Ala222LeufsTer30) c.835_853delinsCTCCGAGCGCA (p.Ala279LeufsTer30) c.2950_2968delinsCTCCGAGCGCA (p.Ala984LeufsTer30) | ClinVar dbSNP |
2 | g.26475983G>A | CA44397841 | OTOF | c.2922C>T (p.Ala974=) c.681C>T (p.Ala227=) c.852C>T (p.Ala284=) c.2967C>T (p.Ala989=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475983G>C | CA425359987 | OTOF | c.2922C>G (p.Ala974=) c.681C>G (p.Ala227=) c.852C>G (p.Ala284=) c.2967C>G (p.Ala989=) | ClinVar dbSNP gnomAD v4 |
2 | g.26475983G= | CA1239827758 | OTOF | c.2922C= (p.Ala974=) c.681C= (p.Ala227=) c.852C= (p.Ala284=) c.2967C= (p.Ala989=) | |
2 | g.26475983G>T | CA1563726 | OTOF | c.2922C>A (p.Ala974=) c.681C>A (p.Ala227=) c.852C>A (p.Ala284=) c.2967C>A (p.Ala989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475984del | CA2576699412 | OTOF | c.2922del (p.Ala975ProfsTer25) c.681del (p.Ala228ProfsTer25) c.852del (p.Ala285ProfsTer25) c.2967del (p.Ala990ProfsTer25) | gnomAD v4 |
2 | g.26475984G>A | CA346113165 | OTOF | c.2921C>T (p.Ala974Val) c.680C>T (p.Ala227Val) c.851C>T (p.Ala284Val) c.2966C>T (p.Ala989Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475984G>C | CA346113169 | OTOF | c.2921C>G (p.Ala974Gly) c.680C>G (p.Ala227Gly) c.851C>G (p.Ala284Gly) c.2966C>G (p.Ala989Gly) | |
2 | g.26475984G= | CA1239827760 | OTOF | c.2921C= (p.Ala974=) c.680C= (p.Ala227=) c.851C= (p.Ala284=) c.2966C= (p.Ala989=) | |
2 | g.26475984G>T | CA346113170 | OTOF | c.2921C>A (p.Ala974Asp) c.680C>A (p.Ala227Asp) c.851C>A (p.Ala284Asp) c.2966C>A (p.Ala989Asp) | |
2 | g.26475985C>A | CA346113173 | OTOF | c.2920G>T (p.Ala974Ser) c.679G>T (p.Ala227Ser) c.850G>T (p.Ala284Ser) c.2965G>T (p.Ala989Ser) | |
2 | g.26475985C>G | CA346113183 | OTOF | c.2920G>C (p.Ala974Pro) c.679G>C (p.Ala227Pro) c.850G>C (p.Ala284Pro) c.2965G>C (p.Ala989Pro) | |
2 | g.26475985C>T | CA346113184 | OTOF | c.2920G>A (p.Ala974Thr) c.679G>A (p.Ala227Thr) c.850G>A (p.Ala284Thr) c.2965G>A (p.Ala989Thr) | |
2 | g.26475985_26475987delinsCAA | CA1239827762 | OTOF | c.2918_2920delinsTTG (p.Phe973=) c.677_679delinsTTG (p.Phe226=) c.848_850delinsTTG (p.Phe283=) c.2963_2965delinsTTG (p.Phe988=) | |
2 | g.26475986A= | CA1239827764 | OTOF | c.2919T= (p.Phe973=) c.678T= (p.Phe226=) c.849T= (p.Phe283=) c.2964T= (p.Phe988=) | |
2 | g.26475986A>C | CA346113185 | OTOF | c.2919T>G (p.Phe973Leu) c.678T>G (p.Phe226Leu) c.849T>G (p.Phe283Leu) c.2964T>G (p.Phe988Leu) | |
2 | g.26475986A>G | CA44397842 | OTOF | c.2919T>C (p.Phe973=) c.678T>C (p.Phe226=) c.849T>C (p.Phe283=) c.2964T>C (p.Phe988=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475986A>T | CA346113186 | OTOF | c.2919T>A (p.Phe973Leu) c.678T>A (p.Phe226Leu) c.849T>A (p.Phe283Leu) c.2964T>A (p.Phe988Leu) | |
2 | g.26475988dup | CA2586968812 | OTOF | c.2919dup (p.Ala974CysfsTer28) c.678dup (p.Ala227CysfsTer28) c.849dup (p.Ala284CysfsTer28) c.2964dup (p.Ala989CysfsTer28) | |
2 | g.26475987_26475988del | CA346113188 | OTOF | c.2918_2919del (p.Phe973CysfsTer28) c.677_678del (p.Phe226CysfsTer28) c.848_849del (p.Phe283CysfsTer28) c.2963_2964del (p.Phe988CysfsTer28) | dbSNP |
2 | g.26475987A>C | CA346113193 | OTOF | c.2918T>G (p.Phe973Cys) c.677T>G (p.Phe226Cys) c.848T>G (p.Phe283Cys) c.2963T>G (p.Phe988Cys) | |
2 | g.26475987A>G | CA346113195 | OTOF | c.2918T>C (p.Phe973Ser) c.677T>C (p.Phe226Ser) c.848T>C (p.Phe283Ser) c.2963T>C (p.Phe988Ser) | |
2 | g.26475987A>T | CA346113194 | OTOF | c.2918T>A (p.Phe973Tyr) c.677T>A (p.Phe226Tyr) c.848T>A (p.Phe283Tyr) c.2963T>A (p.Phe988Tyr) | |
2 | g.26475988A>C | CA346113197 | OTOF | c.2917T>G (p.Phe973Val) c.676T>G (p.Phe226Val) c.847T>G (p.Phe283Val) c.2962T>G (p.Phe988Val) | |
2 | g.26475988A>G | CA346113201 | OTOF | c.2917T>C (p.Phe973Leu) c.676T>C (p.Phe226Leu) c.847T>C (p.Phe283Leu) c.2962T>C (p.Phe988Leu) | |
2 | g.26475988A>T | CA346113207 | OTOF | c.2917T>A (p.Phe973Ile) c.676T>A (p.Phe226Ile) c.847T>A (p.Phe283Ile) c.2962T>A (p.Phe988Ile) | |
2 | g.26475989G>A | CA425359999 | OTOF | c.2916C>T (p.Leu972=) c.675C>T (p.Leu225=) c.846C>T (p.Leu282=) c.2961C>T (p.Leu987=) | gnomAD v4 |
2 | g.26475989G>C | CA425360000 | OTOF | c.2916C>G (p.Leu972=) c.675C>G (p.Leu225=) c.846C>G (p.Leu282=) c.2961C>G (p.Leu987=) | gnomAD v4 |
2 | g.26475989G>T | CA425360001 | OTOF | c.2916C>A (p.Leu972=) c.675C>A (p.Leu225=) c.846C>A (p.Leu282=) c.2961C>A (p.Leu987=) | |
2 | g.26475990A>C | CA346113212 | OTOF | c.2915T>G (p.Leu972Arg) c.674T>G (p.Leu225Arg) c.845T>G (p.Leu282Arg) c.2960T>G (p.Leu987Arg) | |
2 | g.26475990A>G | CA346113216 | OTOF | c.2915T>C (p.Leu972Pro) c.674T>C (p.Leu225Pro) c.845T>C (p.Leu282Pro) c.2960T>C (p.Leu987Pro) | |
2 | g.26475990A>T | CA346113221 | OTOF | c.2915T>A (p.Leu972His) c.674T>A (p.Leu225His) c.845T>A (p.Leu282His) c.2960T>A (p.Leu987His) | |
2 | g.26475991G>A | CA346113232 | OTOF | c.2914C>T (p.Leu972Phe) c.673C>T (p.Leu225Phe) c.844C>T (p.Leu282Phe) c.2959C>T (p.Leu987Phe) | |
2 | g.26475991G>C | CA346113235 | OTOF | c.2914C>G (p.Leu972Val) c.673C>G (p.Leu225Val) c.844C>G (p.Leu282Val) c.2959C>G (p.Leu987Val) | |
2 | g.26475991G>T | CA346113261 | OTOF | c.2914C>A (p.Leu972Ile) c.673C>A (p.Leu225Ile) c.844C>A (p.Leu282Ile) c.2959C>A (p.Leu987Ile) | |
2 | g.26475992G>A | CA425360006 | OTOF | c.2913C>T (p.Ser971=) c.672C>T (p.Ser224=) c.843C>T (p.Ser281=) c.2958C>T (p.Ser986=) | gnomAD v4 |
2 | g.26475992G>C | CA44397845 | OTOF | c.2913C>G (p.Ser971Arg) c.672C>G (p.Ser224Arg) c.843C>G (p.Ser281Arg) c.2958C>G (p.Ser986Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475992G= | CA1239827767 | OTOF | c.2913C= (p.Ser971=) c.672C= (p.Ser224=) c.843C= (p.Ser281=) c.2958C= (p.Ser986=) | |
2 | g.26475992G>T | CA346113270 | OTOF | c.2913C>A (p.Ser971Arg) c.672C>A (p.Ser224Arg) c.843C>A (p.Ser281Arg) c.2958C>A (p.Ser986Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475993C>A | CA346113284 | OTOF | c.2912G>T (p.Ser971Ile) c.671G>T (p.Ser224Ile) c.842G>T (p.Ser281Ile) c.2957G>T (p.Ser986Ile) | |
2 | g.26475993C>G | CA346113305 | OTOF | c.2912G>C (p.Ser971Thr) c.671G>C (p.Ser224Thr) c.842G>C (p.Ser281Thr) c.2957G>C (p.Ser986Thr) | |
2 | g.26475993C>T | CA346113316 | OTOF | c.2912G>A (p.Ser971Asn) c.671G>A (p.Ser224Asn) c.842G>A (p.Ser281Asn) c.2957G>A (p.Ser986Asn) | |
2 | g.26475994T>A | CA346113322 | OTOF | c.2911A>T (p.Ser971Cys) c.670A>T (p.Ser224Cys) c.841A>T (p.Ser281Cys) c.2956A>T (p.Ser986Cys) | |
2 | g.26475994T>C | CA346113324 | OTOF | c.2911A>G (p.Ser971Gly) c.670A>G (p.Ser224Gly) c.841A>G (p.Ser281Gly) c.2956A>G (p.Ser986Gly) | gnomAD v4 |
2 | g.26475994T>G | CA346113325 | OTOF | c.2911A>C (p.Ser971Arg) c.670A>C (p.Ser224Arg) c.841A>C (p.Ser281Arg) c.2956A>C (p.Ser986Arg) | |
2 | g.26475995G>A | CA425360011 | OTOF | c.2910C>T (p.Arg970=) c.669C>T (p.Arg223=) c.840C>T (p.Arg280=) c.2955C>T (p.Arg985=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475995G>C | CA425360012 | OTOF | c.2910C>G (p.Arg970=) c.669C>G (p.Arg223=) c.840C>G (p.Arg280=) c.2955C>G (p.Arg985=) | |
2 | g.26475995G= | CA1239827768 | OTOF | c.2910C= (p.Arg970=) c.669C= (p.Arg223=) c.840C= (p.Arg280=) c.2955C= (p.Arg985=) | |
2 | g.26475995G>T | CA425360014 | OTOF | c.2910C>A (p.Arg970=) c.669C>A (p.Arg223=) c.840C>A (p.Arg280=) c.2955C>A (p.Arg985=) | |
2 | g.26475996C>A | CA346113335 | OTOF | c.2909G>T (p.Arg970Leu) c.668G>T (p.Arg223Leu) c.839G>T (p.Arg280Leu) c.2954G>T (p.Arg985Leu) | |
2 | g.26475996C= | CA1239827771 | OTOF | c.2909G= (p.Arg970=) c.668G= (p.Arg223=) c.839G= (p.Arg280=) c.2954G= (p.Arg985=) | |
2 | g.26475996C>G | CA346113337 | OTOF | c.2909G>C (p.Arg970Pro) c.668G>C (p.Arg223Pro) c.839G>C (p.Arg280Pro) c.2954G>C (p.Arg985Pro) | |
2 | g.26475996C>T | CA346113339 | OTOF | c.2909G>A (p.Arg970His) c.668G>A (p.Arg223His) c.839G>A (p.Arg280His) c.2954G>A (p.Arg985His) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26475997G>A | CA142832 | OTOF | c.2908C>T (p.Arg970Cys) c.667C>T (p.Arg223Cys) c.838C>T (p.Arg280Cys) c.2953C>T (p.Arg985Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475997G>C | CA346113345 | OTOF | c.2908C>G (p.Arg970Gly) c.667C>G (p.Arg223Gly) c.838C>G (p.Arg280Gly) c.2953C>G (p.Arg985Gly) | |
2 | g.26475997G= | CA1239827773 | OTOF | c.2908C= (p.Arg970=) c.667C= (p.Arg223=) c.838C= (p.Arg280=) c.2953C= (p.Arg985=) | |
2 | g.26475997G>T | CA346113370 | OTOF | c.2908C>A (p.Arg970Ser) c.667C>A (p.Arg223Ser) c.838C>A (p.Arg280Ser) c.2953C>A (p.Arg985Ser) | |
2 | g.26475998G>A | CA425360023 | OTOF | c.2907C>T (p.Ala969=) c.666C>T (p.Ala222=) c.837C>T (p.Ala279=) c.2952C>T (p.Ala984=) | |
2 | g.26475998G>C | CA425360024 | OTOF | c.2907C>G (p.Ala969=) c.666C>G (p.Ala222=) c.837C>G (p.Ala279=) c.2952C>G (p.Ala984=) | |
2 | g.26475998G>T | CA425360026 | OTOF | c.2907C>A (p.Ala969=) c.666C>A (p.Ala222=) c.837C>A (p.Ala279=) c.2952C>A (p.Ala984=) | |
2 | g.26475999G>A | CA346113382 | OTOF | c.2906C>T (p.Ala969Val) c.665C>T (p.Ala222Val) c.836C>T (p.Ala279Val) c.2951C>T (p.Ala984Val) | |
2 | g.26475999G>C | CA346113378 | OTOF | c.2906C>G (p.Ala969Gly) c.665C>G (p.Ala222Gly) c.836C>G (p.Ala279Gly) c.2951C>G (p.Ala984Gly) | |
2 | g.26475999G>T | CA346113374 | OTOF | c.2906C>A (p.Ala969Asp) c.665C>A (p.Ala222Asp) c.836C>A (p.Ala279Asp) c.2951C>A (p.Ala984Asp) | |
2 | g.26476000C>A | CA346113384 | OTOF | c.2905G>T (p.Ala969Ser) c.664G>T (p.Ala222Ser) c.835G>T (p.Ala279Ser) c.2950G>T (p.Ala984Ser) | |
2 | g.26476000C>G | CA346113385 | OTOF | c.2905G>C (p.Ala969Pro) c.664G>C (p.Ala222Pro) c.835G>C (p.Ala279Pro) c.2950G>C (p.Ala984Pro) | |
2 | g.26476000C>T | CA346113391 | OTOF | c.2905G>A (p.Ala969Thr) c.664G>A (p.Ala222Thr) c.835G>A (p.Ala279Thr) c.2950G>A (p.Ala984Thr) | |
2 | g.26476001C>A | CA346113396 | OTOF | c.2904G>T (p.Gln968His) c.663G>T (p.Gln221His) c.834G>T (p.Gln278His) c.2949G>T (p.Gln983His) | |
2 | g.26476001C>G | CA346113401 | OTOF | c.2904G>C (p.Gln968His) c.663G>C (p.Gln221His) c.834G>C (p.Gln278His) c.2949G>C (p.Gln983His) | |
2 | g.26476001C>T | CA425360032 | OTOF | c.2904G>A (p.Gln968=) c.663G>A (p.Gln221=) c.834G>A (p.Gln278=) c.2949G>A (p.Gln983=) | dbSNP |
2 | g.26476002T>A | CA346113403 | OTOF | c.2903A>T (p.Gln968Leu) c.662A>T (p.Gln221Leu) c.833A>T (p.Gln278Leu) c.2948A>T (p.Gln983Leu) | |
2 | g.26476002T>C | CA1563727 | OTOF | c.2903A>G (p.Gln968Arg) c.662A>G (p.Gln221Arg) c.833A>G (p.Gln278Arg) c.2948A>G (p.Gln983Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26476002T>G | CA346113408 | OTOF | c.2903A>C (p.Gln968Pro) c.662A>C (p.Gln221Pro) c.833A>C (p.Gln278Pro) c.2948A>C (p.Gln983Pro) | |
2 | g.26476002T= | CA1239827774 | OTOF | c.2903A= (p.Gln968=) c.662A= (p.Gln221=) c.833A= (p.Gln278=) c.2948A= (p.Gln983=) | |
2 | g.26476003G>A | CA346113426 | OTOF | c.2902C>T (p.Gln968Ter) c.661C>T (p.Gln221Ter) c.832C>T (p.Gln278Ter) c.2947C>T (p.Gln983Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26476003G>C | CA346113435 | OTOF | c.2902C>G (p.Gln968Glu) c.661C>G (p.Gln221Glu) c.832C>G (p.Gln278Glu) c.2947C>G (p.Gln983Glu) | |
2 | g.26476003G= | CA1239827776 | OTOF | c.2902C= (p.Gln968=) c.661C= (p.Gln221=) c.832C= (p.Gln278=) c.2947C= (p.Gln983=) | |
2 | g.26476003G>T | CA346113440 | OTOF | c.2902C>A (p.Gln968Lys) c.661C>A (p.Gln221Lys) c.832C>A (p.Gln278Lys) c.2947C>A (p.Gln983Lys) | |
2 | g.26476004G>A | CA425360034 | OTOF | c.2901C>T (p.Tyr967=) c.660C>T (p.Tyr220=) c.831C>T (p.Tyr277=) c.2946C>T (p.Tyr982=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26476004G>C | CA346113441 | OTOF | c.2901C>G (p.Tyr967Ter) c.660C>G (p.Tyr220Ter) c.831C>G (p.Tyr277Ter) c.2946C>G (p.Tyr982Ter) | ClinVar gnomAD v4 |
2 | g.26476004G= | CA1239827778 | OTOF | c.2901C= (p.Tyr967=) c.660C= (p.Tyr220=) c.831C= (p.Tyr277=) c.2946C= (p.Tyr982=) | |
2 | g.26476004G>T | CA346113443 | OTOF | c.2901C>A (p.Tyr967Ter) c.660C>A (p.Tyr220Ter) c.831C>A (p.Tyr277Ter) c.2946C>A (p.Tyr982Ter) | |
2 | g.26476005T>A | CA346113488 | OTOF | c.2900A>T (p.Tyr967Phe) c.659A>T (p.Tyr220Phe) c.830A>T (p.Tyr277Phe) c.2945A>T (p.Tyr982Phe) | |
2 | g.26476005T>C | CA346113493 | OTOF | c.2900A>G (p.Tyr967Cys) c.659A>G (p.Tyr220Cys) c.830A>G (p.Tyr277Cys) c.2945A>G (p.Tyr982Cys) | |
2 | g.26476005T>G | CA346113486 | OTOF | c.2900A>C (p.Tyr967Ser) c.659A>C (p.Tyr220Ser) c.830A>C (p.Tyr277Ser) c.2945A>C (p.Tyr982Ser) | |
2 | g.26476006A>C | CA346113549 | OTOF | c.2899T>G (p.Tyr967Asp) c.658T>G (p.Tyr220Asp) c.829T>G (p.Tyr277Asp) c.2944T>G (p.Tyr982Asp) | |
2 | g.26476006A>G | CA346113502 | OTOF | c.2899T>C (p.Tyr967His) c.658T>C (p.Tyr220His) c.829T>C (p.Tyr277His) c.2944T>C (p.Tyr982His) | |
2 | g.26476006A>T | CA346113509 | OTOF | c.2899T>A (p.Tyr967Asn) c.658T>A (p.Tyr220Asn) c.829T>A (p.Tyr277Asn) c.2944T>A (p.Tyr982Asn) | gnomAD v4 |
2 | g.26476007C>A | CA346113551 | OTOF | c.2898G>T (p.Met966Ile) c.657G>T (p.Met219Ile) c.828G>T (p.Met276Ile) c.2943G>T (p.Met981Ile) | |
2 | g.26476007C>G | CA346113553 | OTOF | c.2898G>C (p.Met966Ile) c.657G>C (p.Met219Ile) c.828G>C (p.Met276Ile) c.2943G>C (p.Met981Ile) | |
2 | g.26476007C>T | CA346113561 | OTOF | c.2898G>A (p.Met966Ile) c.657G>A (p.Met219Ile) c.828G>A (p.Met276Ile) c.2943G>A (p.Met981Ile) | |
2 | g.26476008A>C | CA346113567 | OTOF | c.2897T>G (p.Met966Arg) c.656T>G (p.Met219Arg) c.827T>G (p.Met276Arg) c.2942T>G (p.Met981Arg) | gnomAD v4 |
2 | g.26476008A>G | CA346113570 | OTOF | c.2897T>C (p.Met966Thr) c.656T>C (p.Met219Thr) c.827T>C (p.Met276Thr) c.2942T>C (p.Met981Thr) | gnomAD v4 |
2 | g.26476008A>T | CA346113577 | OTOF | c.2897T>A (p.Met966Lys) c.656T>A (p.Met219Lys) c.827T>A (p.Met276Lys) c.2942T>A (p.Met981Lys) | gnomAD v4 |
2 | g.26476009T>A | CA346113593 | OTOF | c.2896A>T (p.Met966Leu) c.655A>T (p.Met219Leu) c.826A>T (p.Met276Leu) c.2941A>T (p.Met981Leu) | gnomAD v4 |
2 | g.26476009T>C | CA44397849 | OTOF | c.2896A>G (p.Met966Val) c.655A>G (p.Met219Val) c.826A>G (p.Met276Val) c.2941A>G (p.Met981Val) | ClinVar dbSNP gnomAD v4 |
2 | g.26476009T>G | CA346113600 | OTOF | c.2896A>C (p.Met966Leu) c.655A>C (p.Met219Leu) c.826A>C (p.Met276Leu) c.2941A>C (p.Met981Leu) | |
2 | g.26476009T= | CA1239827780 | OTOF | c.2896A= (p.Met966=) c.655A= (p.Met219=) c.826A= (p.Met276=) c.2941A= (p.Met981=) | |
2 | g.26476010G>A | CA425360047 | OTOF | c.2895C>T (p.His965=) c.654C>T (p.His218=) c.825C>T (p.His275=) c.2940C>T (p.His980=) | |
2 | g.26476010G>C | CA346113603 | OTOF | c.2895C>G (p.His965Gln) c.654C>G (p.His218Gln) c.825C>G (p.His275Gln) c.2940C>G (p.His980Gln) | |
2 | g.26476010G>T | CA346113613 | OTOF | c.2895C>A (p.His965Gln) c.654C>A (p.His218Gln) c.825C>A (p.His275Gln) c.2940C>A (p.His980Gln) | |
2 | g.26476011T>A | CA346113631 | OTOF | c.2894A>T (p.His965Leu) c.653A>T (p.His218Leu) c.824A>T (p.His275Leu) c.2939A>T (p.His980Leu) | |
2 | g.26476011T>C | CA1563728 | OTOF | c.2894A>G (p.His965Arg) c.653A>G (p.His218Arg) c.824A>G (p.His275Arg) c.2939A>G (p.His980Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26476011T>G | CA346113629 | OTOF | c.2894A>C (p.His965Pro) c.653A>C (p.His218Pro) c.824A>C (p.His275Pro) c.2939A>C (p.His980Pro) | |
2 | g.26476011T= | CA1239827782 | OTOF | c.2894A= (p.His965=) c.653A= (p.His218=) c.824A= (p.His275=) c.2939A= (p.His980=) | |
2 | g.26476012G>A | CA1563729 | OTOF | c.2893C>T (p.His965Tyr) c.652C>T (p.His218Tyr) c.823C>T (p.His275Tyr) c.2938C>T (p.His980Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26476012G>C | CA346113650 | OTOF | c.2893C>G (p.His965Asp) c.652C>G (p.His218Asp) c.823C>G (p.His275Asp) c.2938C>G (p.His980Asp) | |
2 | g.26476012G= | CA1239827784 | OTOF | c.2893C= (p.His965=) c.652C= (p.His218=) c.823C= (p.His275=) c.2938C= (p.His980=) | |
2 | g.26476012G>T | CA346113652 | OTOF | c.2893C>A (p.His965Asn) c.652C>A (p.His218Asn) c.823C>A (p.His275Asn) c.2938C>A (p.His980Asn) | |
2 | g.26476013C>A | CA425360054 | OTOF | c.2892G>T (p.Ala964=) c.651G>T (p.Ala217=) c.822G>T (p.Ala274=) c.2937G>T (p.Ala979=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26476013C= | CA1239827786 | OTOF | c.2892G= (p.Ala964=) c.651G= (p.Ala217=) c.822G= (p.Ala274=) c.2937G= (p.Ala979=) | |
2 | g.26476013C>G | CA425360057 | OTOF | c.2892G>C (p.Ala964=) c.651G>C (p.Ala217=) c.822G>C (p.Ala274=) c.2937G>C (p.Ala979=) | |
2 | g.26476013C>T | CA1563730 | OTOF | c.2892G>A (p.Ala964=) c.651G>A (p.Ala217=) c.822G>A (p.Ala274=) c.2937G>A (p.Ala979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26476014G>A | CA1563731 | OTOF | c.2891C>T (p.Ala964Val) c.650C>T (p.Ala217Val) c.821C>T (p.Ala274Val) c.2936C>T (p.Ala979Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26476014G>C | CA1563732 | OTOF | c.2891C>G (p.Ala964Gly) c.650C>G (p.Ala217Gly) c.821C>G (p.Ala274Gly) c.2936C>G (p.Ala979Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26476014G= | CA1239827789 | OTOF | c.2891C= (p.Ala964=) c.650C= (p.Ala217=) c.821C= (p.Ala274=) c.2936C= (p.Ala979=) | |
2 | g.26476014G>T | CA345110 | OTOF | c.2891C>A (p.Ala964Glu) c.650C>A (p.Ala217Glu) c.821C>A (p.Ala274Glu) c.2936C>A (p.Ala979Glu) | ClinVar dbSNP |
2 | g.26476015C>A | CA346113663 | OTOF | c.2890G>T (p.Ala964Ser) c.649G>T (p.Ala217Ser) c.820G>T (p.Ala274Ser) c.2935G>T (p.Ala979Ser) | COSMIC COSMIC COSMIC |
2 | g.26476015C>G | CA346113664 | OTOF | c.2890G>C (p.Ala964Pro) c.649G>C (p.Ala217Pro) c.820G>C (p.Ala274Pro) c.2935G>C (p.Ala979Pro) | |
2 | g.26476015C>T | CA346113668 | OTOF | c.2890G>A (p.Ala964Thr) c.649G>A (p.Ala217Thr) c.820G>A (p.Ala274Thr) c.2935G>A (p.Ala979Thr) | |
2 | g.26476016T>A | CA425360065 | OTOF | c.2889A>T (p.Arg963=) c.648A>T (p.Arg216=) c.819A>T (p.Arg273=) c.2934A>T (p.Arg978=) | |
2 | g.26476016T>C | CA425360066 | OTOF | c.2889A>G (p.Arg963=) c.648A>G (p.Arg216=) c.819A>G (p.Arg273=) c.2934A>G (p.Arg978=) | |
2 | g.26476016T>G | CA425360067 | OTOF | c.2889A>C (p.Arg963=) c.648A>C (p.Arg216=) c.819A>C (p.Arg273=) c.2934A>C (p.Arg978=) | |
2 | g.26476017C>A | CA346113671 | OTOF | c.2888G>T (p.Arg963Leu) c.647G>T (p.Arg216Leu) c.818G>T (p.Arg273Leu) c.2933G>T (p.Arg978Leu) | COSMIC COSMIC COSMIC |
2 | g.26476017C= | CA1239827792 | OTOF | c.2888G= (p.Arg963=) c.647G= (p.Arg216=) c.818G= (p.Arg273=) c.2933G= (p.Arg978=) | |
2 | g.26476017C>G | CA346113672 | OTOF | c.2888G>C (p.Arg963Pro) c.647G>C (p.Arg216Pro) c.818G>C (p.Arg273Pro) c.2933G>C (p.Arg978Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26476017C>T | CA1563733 | OTOF | c.2888G>A (p.Arg963Gln) c.647G>A (p.Arg216Gln) c.818G>A (p.Arg273Gln) c.2933G>A (p.Arg978Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |