| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26475453A= | CA1239827166 | OTOF | c.3032T= (p.Leu1011=) c.791T= (p.Leu264=) c.962T= (p.Leu321=) c.3077T= (p.Leu1026=) | |
| 2 | g.26475453A>C | CA346110509 | OTOF | c.3032T>G (p.Leu1011Arg) c.791T>G (p.Leu264Arg) c.962T>G (p.Leu321Arg) c.3077T>G (p.Leu1026Arg) | |
| 2 | g.26475453A>G | CA117972 | OTOF | c.3032T>C (p.Leu1011Pro) c.791T>C (p.Leu264Pro) c.962T>C (p.Leu321Pro) c.3077T>C (p.Leu1026Pro) | ClinVar dbSNP |
| 2 | g.26475453A>T | CA346110516 | OTOF | c.3032T>A (p.Leu1011Gln) c.791T>A (p.Leu264Gln) c.962T>A (p.Leu321Gln) c.3077T>A (p.Leu1026Gln) | |
| 2 | g.26475454G>A | CA425204106 | OTOF | c.3031C>T (p.Leu1011=) c.790C>T (p.Leu264=) c.961C>T (p.Leu321=) c.3076C>T (p.Leu1026=) | dbSNP gnomAD v4 |
| 2 | g.26475454G>C | CA346110522 | OTOF | c.3031C>G (p.Leu1011Val) c.790C>G (p.Leu264Val) c.961C>G (p.Leu321Val) c.3076C>G (p.Leu1026Val) | |
| 2 | g.26475454G= | CA1239827168 | OTOF | c.3031C= (p.Leu1011=) c.790C= (p.Leu264=) c.961C= (p.Leu321=) c.3076C= (p.Leu1026=) | |
| 2 | g.26475454G>T | CA346110525 | OTOF | c.3031C>A (p.Leu1011Met) c.790C>A (p.Leu264Met) c.961C>A (p.Leu321Met) c.3076C>A (p.Leu1026Met) | |
| 2 | g.26475455C>A | CA346110533 | OTOF | c.3030G>T (p.Met1010Ile) c.789G>T (p.Met263Ile) c.960G>T (p.Met320Ile) c.3075G>T (p.Met1025Ile) | |
| 2 | g.26475455C>G | CA346110540 | OTOF | c.3030G>C (p.Met1010Ile) c.789G>C (p.Met263Ile) c.960G>C (p.Met320Ile) c.3075G>C (p.Met1025Ile) | |
| 2 | g.26475455C>T | CA346110549 | OTOF | c.3030G>A (p.Met1010Ile) c.789G>A (p.Met263Ile) c.960G>A (p.Met320Ile) c.3075G>A (p.Met1025Ile) | |
| 2 | g.26475456A>C | CA346110569 | OTOF | c.3029T>G (p.Met1010Arg) c.788T>G (p.Met263Arg) c.959T>G (p.Met320Arg) c.3074T>G (p.Met1025Arg) | |
| 2 | g.26475456A>G | CA346110585 | OTOF | c.3029T>C (p.Met1010Thr) c.788T>C (p.Met263Thr) c.959T>C (p.Met320Thr) c.3074T>C (p.Met1025Thr) | |
| 2 | g.26475456A>T | CA346110591 | OTOF | c.3029T>A (p.Met1010Lys) c.788T>A (p.Met263Lys) c.959T>A (p.Met320Lys) c.3074T>A (p.Met1025Lys) | |
| 2 | g.26475457T>A | CA346110602 | OTOF | c.3028A>T (p.Met1010Leu) c.787A>T (p.Met263Leu) c.958A>T (p.Met320Leu) c.3073A>T (p.Met1025Leu) | |
| 2 | g.26475457T>C | CA346110600 | OTOF | c.3028A>G (p.Met1010Val) c.787A>G (p.Met263Val) c.958A>G (p.Met320Val) c.3073A>G (p.Met1025Val) | |
| 2 | g.26475457T>G | CA346110598 | OTOF | c.3028A>C (p.Met1010Leu) c.787A>C (p.Met263Leu) c.958A>C (p.Met320Leu) c.3073A>C (p.Met1025Leu) | |
| 2 | g.26475458C>A | CA346110605 | OTOF | c.3027G>T (p.Gln1009His) c.786G>T (p.Gln262His) c.957G>T (p.Gln319His) c.3072G>T (p.Gln1024His) | |
| 2 | g.26475458C>G | CA346110609 | OTOF | c.3027G>C (p.Gln1009His) c.786G>C (p.Gln262His) c.957G>C (p.Gln319His) c.3072G>C (p.Gln1024His) | |
| 2 | g.26475458C>T | CA425204114 | OTOF | c.3027G>A (p.Gln1009=) c.786G>A (p.Gln262=) c.957G>A (p.Gln319=) c.3072G>A (p.Gln1024=) | |
| 2 | g.26475459T>A | CA346110619 | OTOF | c.3026A>T (p.Gln1009Leu) c.785A>T (p.Gln262Leu) c.956A>T (p.Gln319Leu) c.3071A>T (p.Gln1024Leu) | |
| 2 | g.26475459T>C | CA346110622 | OTOF | c.3026A>G (p.Gln1009Arg) c.785A>G (p.Gln262Arg) c.956A>G (p.Gln319Arg) c.3071A>G (p.Gln1024Arg) | |
| 2 | g.26475459T>G | CA346110626 | OTOF | c.3026A>C (p.Gln1009Pro) c.785A>C (p.Gln262Pro) c.956A>C (p.Gln319Pro) c.3071A>C (p.Gln1024Pro) | dbSNP gnomAD v4 |
| 2 | g.26475459T= | CA1239827170 | OTOF | c.3026A= (p.Gln1009=) c.785A= (p.Gln262=) c.956A= (p.Gln319=) c.3071A= (p.Gln1024=) | |
| 2 | g.26475460G>A | CA346110628 | OTOF | c.3025C>T (p.Gln1009Ter) c.784C>T (p.Gln262Ter) c.955C>T (p.Gln319Ter) c.3070C>T (p.Gln1024Ter) | |
| 2 | g.26475460G>C | CA346110631 | OTOF | c.3025C>G (p.Gln1009Glu) c.784C>G (p.Gln262Glu) c.955C>G (p.Gln319Glu) c.3070C>G (p.Gln1024Glu) | dbSNP |
| 2 | g.26475460G= | CA1239827171 | OTOF | c.3025C= (p.Gln1009=) c.784C= (p.Gln262=) c.955C= (p.Gln319=) c.3070C= (p.Gln1024=) | |
| 2 | g.26475460G>T | CA346110634 | OTOF | c.3025C>A (p.Gln1009Lys) c.784C>A (p.Gln262Lys) c.955C>A (p.Gln319Lys) c.3070C>A (p.Gln1024Lys) | |
| 2 | g.26475461G>A | CA425204121 | OTOF | c.3024C>T (p.Asp1008=) c.783C>T (p.Asp261=) c.954C>T (p.Asp318=) c.3069C>T (p.Asp1023=) | gnomAD v4 |
| 2 | g.26475461G>C | CA346110635 | OTOF | c.3024C>G (p.Asp1008Glu) c.783C>G (p.Asp261Glu) c.954C>G (p.Asp318Glu) c.3069C>G (p.Asp1023Glu) | |
| 2 | g.26475461G>T | CA346110636 | OTOF | c.3024C>A (p.Asp1008Glu) c.783C>A (p.Asp261Glu) c.954C>A (p.Asp318Glu) c.3069C>A (p.Asp1023Glu) | |
| 2 | g.26475462T>A | CA346110643 | OTOF | c.3023A>T (p.Asp1008Val) c.782A>T (p.Asp261Val) c.953A>T (p.Asp318Val) c.3068A>T (p.Asp1023Val) | gnomAD v4 |
| 2 | g.26475462T>C | CA346110644 | OTOF | c.3023A>G (p.Asp1008Gly) c.782A>G (p.Asp261Gly) c.953A>G (p.Asp318Gly) c.3068A>G (p.Asp1023Gly) | gnomAD v4 |
| 2 | g.26475462T>G | CA346110647 | OTOF | c.3023A>C (p.Asp1008Ala) c.782A>C (p.Asp261Ala) c.953A>C (p.Asp318Ala) c.3068A>C (p.Asp1023Ala) | |
| 2 | g.26475463C>A | CA346110659 | OTOF | c.3022G>T (p.Asp1008Tyr) c.781G>T (p.Asp261Tyr) c.952G>T (p.Asp318Tyr) c.3067G>T (p.Asp1023Tyr) | gnomAD v4 |
| 2 | g.26475463C>G | CA346110657 | OTOF | c.3022G>C (p.Asp1008His) c.781G>C (p.Asp261His) c.952G>C (p.Asp318His) c.3067G>C (p.Asp1023His) | |
| 2 | g.26475463C>T | CA346110655 | OTOF | c.3022G>A (p.Asp1008Asn) c.781G>A (p.Asp261Asn) c.952G>A (p.Asp318Asn) c.3067G>A (p.Asp1023Asn) | gnomAD v4 |
| 2 | g.26475464C>A | CA346110663 | OTOF | c.3021G>T (p.Trp1007Cys) c.780G>T (p.Trp260Cys) c.951G>T (p.Trp317Cys) c.3066G>T (p.Trp1022Cys) | |
| 2 | g.26475464C>G | CA346110671 | OTOF | c.3021G>C (p.Trp1007Cys) c.780G>C (p.Trp260Cys) c.951G>C (p.Trp317Cys) c.3066G>C (p.Trp1022Cys) | |
| 2 | g.26475464C>T | CA346110675 | OTOF | c.3021G>A (p.Trp1007Ter) c.780G>A (p.Trp260Ter) c.951G>A (p.Trp317Ter) c.3066G>A (p.Trp1022Ter) | |
| 2 | g.26475465C>A | CA346110676 | OTOF | c.3020G>T (p.Trp1007Leu) c.779G>T (p.Trp260Leu) c.950G>T (p.Trp317Leu) c.3065G>T (p.Trp1022Leu) | |
| 2 | g.26475465C>G | CA346110677 | OTOF | c.3020G>C (p.Trp1007Ser) c.779G>C (p.Trp260Ser) c.950G>C (p.Trp317Ser) c.3065G>C (p.Trp1022Ser) | |
| 2 | g.26475465C>T | CA346110680 | OTOF | c.3020G>A (p.Trp1007Ter) c.779G>A (p.Trp260Ter) c.950G>A (p.Trp317Ter) c.3065G>A (p.Trp1022Ter) | |
| 2 | g.26475466A>C | CA346110692 | OTOF | c.3019T>G (p.Trp1007Gly) c.778T>G (p.Trp260Gly) c.949T>G (p.Trp317Gly) c.3064T>G (p.Trp1022Gly) | |
| 2 | g.26475466A>G | CA346110693 | OTOF | c.3019T>C (p.Trp1007Arg) c.778T>C (p.Trp260Arg) c.949T>C (p.Trp317Arg) c.3064T>C (p.Trp1022Arg) | |
| 2 | g.26475466A>T | CA346110694 | OTOF | c.3019T>A (p.Trp1007Arg) c.778T>A (p.Trp260Arg) c.949T>A (p.Trp317Arg) c.3064T>A (p.Trp1022Arg) | |
| 2 | g.26475467G>A | CA1563673 | OTOF | c.3018C>T (p.Thr1006=) c.777C>T (p.Thr259=) c.948C>T (p.Thr316=) c.3063C>T (p.Thr1021=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26475467G>C | CA425204129 | OTOF | c.3018C>G (p.Thr1006=) c.777C>G (p.Thr259=) c.948C>G (p.Thr316=) c.3063C>G (p.Thr1021=) | |
| 2 | g.26475467G= | CA1239827174 | OTOF | c.3018C= (p.Thr1006=) c.777C= (p.Thr259=) c.948C= (p.Thr316=) c.3063C= (p.Thr1021=) | |
| 2 | g.26475467G>T | CA425204130 | OTOF | c.3018C>A (p.Thr1006=) c.777C>A (p.Thr259=) c.948C>A (p.Thr316=) c.3063C>A (p.Thr1021=) |