UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 2 | g.26475468G>A | CA346110701 | OTOF | c.3017C>T (p.Thr1006Ile) c.776C>T (p.Thr259Ile) c.947C>T (p.Thr316Ile) c.3062C>T (p.Thr1021Ile) | |
| 2 | g.26475468G>C | CA1563674 | OTOF | c.3017C>G (p.Thr1006Ser) c.776C>G (p.Thr259Ser) c.947C>G (p.Thr316Ser) c.3062C>G (p.Thr1021Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26475468G= | CA1239827176 | OTOF | c.3017C= (p.Thr1006=) c.776C= (p.Thr259=) c.947C= (p.Thr316=) c.3062C= (p.Thr1021=) | |
| 2 | g.26475468G>T | CA346110707 | OTOF | c.3017C>A (p.Thr1006Asn) c.776C>A (p.Thr259Asn) c.947C>A (p.Thr316Asn) c.3062C>A (p.Thr1021Asn) | |
| 2 | g.26475469T>A | CA346110717 | OTOF | c.3016A>T (p.Thr1006Ser) c.775A>T (p.Thr259Ser) c.946A>T (p.Thr316Ser) c.3061A>T (p.Thr1021Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26475469T>C | CA346110733 | OTOF | c.3016A>G (p.Thr1006Ala) c.775A>G (p.Thr259Ala) c.946A>G (p.Thr316Ala) c.3061A>G (p.Thr1021Ala) | |
| 2 | g.26475469T>G | CA346110712 | OTOF | c.3016A>C (p.Thr1006Pro) c.775A>C (p.Thr259Pro) c.946A>C (p.Thr316Pro) c.3061A>C (p.Thr1021Pro) | |
| 2 | g.26475469T= | CA1239827179 | OTOF | c.3016A= (p.Thr1006=) c.775A= (p.Thr259=) c.946A= (p.Thr316=) c.3061A= (p.Thr1021=) | |
| 2 | g.26475470G>A | CA425204135 | OTOF | c.3015C>T (p.Pro1005=) c.774C>T (p.Pro258=) c.945C>T (p.Pro315=) c.3060C>T (p.Pro1020=) | COSMIC COSMIC COSMIC |
| 2 | g.26475470G>C | CA425204138 | OTOF | c.3015C>G (p.Pro1005=) c.774C>G (p.Pro258=) c.945C>G (p.Pro315=) c.3060C>G (p.Pro1020=) | |
| 2 | g.26475470G>T | CA425204140 | OTOF | c.3015C>A (p.Pro1005=) c.774C>A (p.Pro258=) c.945C>A (p.Pro315=) c.3060C>A (p.Pro1020=) | |
| 2 | g.26475471G>A | CA346110735 | OTOF | c.3014C>T (p.Pro1005Leu) c.773C>T (p.Pro258Leu) c.944C>T (p.Pro315Leu) c.3059C>T (p.Pro1020Leu) | COSMIC COSMIC COSMIC |
| 2 | g.26475471G>C | CA346110737 | OTOF | c.3014C>G (p.Pro1005Arg) c.773C>G (p.Pro258Arg) c.944C>G (p.Pro315Arg) c.3059C>G (p.Pro1020Arg) | dbSNP |
| 2 | g.26475471G= | CA1239827181 | OTOF | c.3014C= (p.Pro1005=) c.773C= (p.Pro258=) c.944C= (p.Pro315=) c.3059C= (p.Pro1020=) | |
| 2 | g.26475471G>T | CA346110739 | OTOF | c.3014C>A (p.Pro1005His) c.773C>A (p.Pro258His) c.944C>A (p.Pro315His) c.3059C>A (p.Pro1020His) | |
| 2 | g.26475472G>A | CA346110741 | OTOF | c.3013C>T (p.Pro1005Ser) c.772C>T (p.Pro258Ser) c.943C>T (p.Pro315Ser) c.3058C>T (p.Pro1020Ser) | |
| 2 | g.26475472G>C | CA346110744 | OTOF | c.3013C>G (p.Pro1005Ala) c.772C>G (p.Pro258Ala) c.943C>G (p.Pro315Ala) c.3058C>G (p.Pro1020Ala) | ClinVar dbSNP |
| 2 | g.26475472G= | CA1239827183 | OTOF | c.3013C= (p.Pro1005=) c.772C= (p.Pro258=) c.943C= (p.Pro315=) c.3058C= (p.Pro1020=) | |
| 2 | g.26475472G>T | CA346110758 | OTOF | c.3013C>A (p.Pro1005Thr) c.772C>A (p.Pro258Thr) c.943C>A (p.Pro315Thr) c.3058C>A (p.Pro1020Thr) | |
| 2 | g.26475473A>C | CA346110762 | OTOF | c.3012T>G (p.Cys1004Trp) c.771T>G (p.Cys257Trp) c.942T>G (p.Cys314Trp) c.3057T>G (p.Cys1019Trp) |