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