| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |