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 |
|---|---|---|---|---|---|
| 16 | g.24793633A= | CA2213968517 | TNRC6A | c.3336A= (p.Gln1112=) c.332-911A= (n.332-911A=) c.2983A= n.284A= n.289A= c.2577A= (p.Gln859=) c.2910A= (p.Gln970=) c.3176-911A= (n.3176-911A=) c.3363A= (p.Gln1121=) c.3288A= (p.Gln1096=) c.3203-911A= (n.3203-911A=) c.2937A= (p.Gln979=) | |
| 16 | g.24793633A>C | CA395176553 | TNRC6A | c.3336A>C (p.Gln1112His) c.332-911A>C (n.332-911A>C) c.2983A>C n.284A>C n.289A>C c.2577A>C (p.Gln859His) c.2910A>C (p.Gln970His) c.3176-911A>C (n.3176-911A>C) c.3363A>C (p.Gln1121His) c.3288A>C (p.Gln1096His) c.3203-911A>C (n.3203-911A>C) c.2937A>C (p.Gln979His) | |
| 16 | g.24793633A>G | CA494198350 | TNRC6A | c.3336A>G (p.Gln1112=) c.332-911A>G (n.332-911A>G) c.2983A>G n.284A>G n.289A>G c.2577A>G (p.Gln859=) c.2910A>G (p.Gln970=) c.3176-911A>G (n.3176-911A>G) c.3363A>G (p.Gln1121=) c.3288A>G (p.Gln1096=) c.3203-911A>G (n.3203-911A>G) c.2937A>G (p.Gln979=) | dbSNP gnomAD v4 |
| 16 | g.24793633A>T | CA7968886 | TNRC6A | c.3336A>T (p.Gln1112His) c.332-911A>T (n.332-911A>T) c.2983A>T n.284A>T n.289A>T c.2577A>T (p.Gln859His) c.2910A>T (p.Gln970His) c.3176-911A>T (n.3176-911A>T) c.3363A>T (p.Gln1121His) c.3288A>T (p.Gln1096His) c.3203-911A>T (n.3203-911A>T) c.2937A>T (p.Gln979His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.24793634G>A | CA395176564 | TNRC6A | c.3337G>A (p.Ala1113Thr) c.332-910G>A (n.332-910G>A) c.2984G>A n.285G>A n.290G>A c.2578G>A (p.Ala860Thr) c.2911G>A (p.Ala971Thr) c.3176-910G>A (n.3176-910G>A) c.3364G>A (p.Ala1122Thr) c.3289G>A (p.Ala1097Thr) c.3203-910G>A (n.3203-910G>A) c.2938G>A (p.Ala980Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.24793634G>C | CA7968887 | TNRC6A | c.3337G>C (p.Ala1113Pro) c.332-910G>C (n.332-910G>C) c.2984G>C n.285G>C n.290G>C c.2578G>C (p.Ala860Pro) c.2911G>C (p.Ala971Pro) c.3176-910G>C (n.3176-910G>C) c.3364G>C (p.Ala1122Pro) c.3289G>C (p.Ala1097Pro) c.3203-910G>C (n.3203-910G>C) c.2938G>C (p.Ala980Pro) | dbSNP ExAC gnomAD v2 |
| 16 | g.24793634G= | CA2213968522 | TNRC6A | c.3337G= (p.Ala1113=) c.332-910G= (n.332-910G=) c.2984G= n.285G= n.290G= c.2578G= (p.Ala860=) c.2911G= (p.Ala971=) c.3176-910G= (n.3176-910G=) c.3364G= (p.Ala1122=) c.3289G= (p.Ala1097=) c.3203-910G= (n.3203-910G=) c.2938G= (p.Ala980=) | |
| 16 | g.24793634G>T | CA395176559 | TNRC6A | c.3337G>T (p.Ala1113Ser) c.332-910G>T (n.332-910G>T) c.2984G>T n.285G>T n.290G>T c.2578G>T (p.Ala860Ser) c.2911G>T (p.Ala971Ser) c.3176-910G>T (n.3176-910G>T) c.3364G>T (p.Ala1122Ser) c.3289G>T (p.Ala1097Ser) c.3203-910G>T (n.3203-910G>T) c.2938G>T (p.Ala980Ser) | dbSNP gnomAD v4 |
| 16 | g.24793635C>A | CA395176568 | TNRC6A | c.3338C>A (p.Ala1113Glu) c.332-909C>A (n.332-909C>A) c.2985C>A n.286C>A n.291C>A c.2579C>A (p.Ala860Glu) c.2912C>A (p.Ala971Glu) c.3176-909C>A (n.3176-909C>A) c.3365C>A (p.Ala1122Glu) c.3290C>A (p.Ala1097Glu) c.3203-909C>A (n.3203-909C>A) c.2939C>A (p.Ala980Glu) | gnomAD v4 |
| 16 | g.24793635C>G | CA395176571 | TNRC6A | c.3338C>G (p.Ala1113Gly) c.332-909C>G (n.332-909C>G) c.2985C>G n.286C>G n.291C>G c.2579C>G (p.Ala860Gly) c.2912C>G (p.Ala971Gly) c.3176-909C>G (n.3176-909C>G) c.3365C>G (p.Ala1122Gly) c.3290C>G (p.Ala1097Gly) c.3203-909C>G (n.3203-909C>G) c.2939C>G (p.Ala980Gly) | |
| 16 | g.24793635C>T | CA395176569 | TNRC6A | c.3338C>T (p.Ala1113Val) c.332-909C>T (n.332-909C>T) c.2985C>T n.286C>T n.291C>T c.2579C>T (p.Ala860Val) c.2912C>T (p.Ala971Val) c.3176-909C>T (n.3176-909C>T) c.3365C>T (p.Ala1122Val) c.3290C>T (p.Ala1097Val) c.3203-909C>T (n.3203-909C>T) c.2939C>T (p.Ala980Val) | gnomAD v4 |
| 16 | g.24793636A= | CA2213968528 | TNRC6A | c.3339A= (p.Ala1113=) c.332-908A= (n.332-908A=) c.2986A= n.287A= n.292A= c.2580A= (p.Ala860=) c.2913A= (p.Ala971=) c.3176-908A= (n.3176-908A=) c.3366A= (p.Ala1122=) c.3291A= (p.Ala1097=) c.3203-908A= (n.3203-908A=) c.2940A= (p.Ala980=) | |
| 16 | g.24793636A>C | CA494198355 | TNRC6A | c.3339A>C (p.Ala1113=) c.332-908A>C (n.332-908A>C) c.2986A>C n.287A>C n.292A>C c.2580A>C (p.Ala860=) c.2913A>C (p.Ala971=) c.3176-908A>C (n.3176-908A>C) c.3366A>C (p.Ala1122=) c.3291A>C (p.Ala1097=) c.3203-908A>C (n.3203-908A>C) c.2940A>C (p.Ala980=) | |
| 16 | g.24793636A>G | CA494198353 | TNRC6A | c.3339A>G (p.Ala1113=) c.332-908A>G (n.332-908A>G) c.2986A>G n.287A>G n.292A>G c.2580A>G (p.Ala860=) c.2913A>G (p.Ala971=) c.3176-908A>G (n.3176-908A>G) c.3366A>G (p.Ala1122=) c.3291A>G (p.Ala1097=) c.3203-908A>G (n.3203-908A>G) c.2940A>G (p.Ala980=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.24793636A>T | CA494198351 | TNRC6A | c.3339A>T (p.Ala1113=) c.332-908A>T (n.332-908A>T) c.2986A>T n.287A>T n.292A>T c.2580A>T (p.Ala860=) c.2913A>T (p.Ala971=) c.3176-908A>T (n.3176-908A>T) c.3366A>T (p.Ala1122=) c.3291A>T (p.Ala1097=) c.3203-908A>T (n.3203-908A>T) c.2940A>T (p.Ala980=) | |
| 16 | g.24793637T>A | CA395176573 | TNRC6A | c.3340T>A (p.Leu1114Ile) c.332-907T>A (n.332-907T>A) c.2987T>A n.288T>A n.293T>A c.2581T>A (p.Leu861Ile) c.2914T>A (p.Leu972Ile) c.3176-907T>A (n.3176-907T>A) c.3367T>A (p.Leu1123Ile) c.3292T>A (p.Leu1098Ile) c.3203-907T>A (n.3203-907T>A) c.2941T>A (p.Leu981Ile) | |
| 16 | g.24793637T>C | CA494198357 | TNRC6A | c.3340T>C (p.Leu1114=) c.332-907T>C (n.332-907T>C) c.2987T>C n.288T>C n.293T>C c.2581T>C (p.Leu861=) c.2914T>C (p.Leu972=) c.3176-907T>C (n.3176-907T>C) c.3367T>C (p.Leu1123=) c.3292T>C (p.Leu1098=) c.3203-907T>C (n.3203-907T>C) c.2941T>C (p.Leu981=) | gnomAD v4 |
| 16 | g.24793637T>G | CA395176576 | TNRC6A | c.3340T>G (p.Leu1114Val) c.332-907T>G (n.332-907T>G) c.2987T>G n.288T>G n.293T>G c.2581T>G (p.Leu861Val) c.2914T>G (p.Leu972Val) c.3176-907T>G (n.3176-907T>G) c.3367T>G (p.Leu1123Val) c.3292T>G (p.Leu1098Val) c.3203-907T>G (n.3203-907T>G) c.2941T>G (p.Leu981Val) | |
| 16 | g.24793638T>A | CA395176578 | TNRC6A | c.3341T>A (p.Leu1114Ter) c.332-906T>A (n.332-906T>A) c.2988T>A n.289T>A n.294T>A c.2582T>A (p.Leu861Ter) c.2915T>A (p.Leu972Ter) c.3176-906T>A (n.3176-906T>A) c.3368T>A (p.Leu1123Ter) c.3293T>A (p.Leu1098Ter) c.3203-906T>A (n.3203-906T>A) c.2942T>A (p.Leu981Ter) | |
| 16 | g.24793638T>C | CA395176583 | TNRC6A | c.3341T>C (p.Leu1114Ser) c.332-906T>C (n.332-906T>C) c.2988T>C n.289T>C n.294T>C c.2582T>C (p.Leu861Ser) c.2915T>C (p.Leu972Ser) c.3176-906T>C (n.3176-906T>C) c.3368T>C (p.Leu1123Ser) c.3293T>C (p.Leu1098Ser) c.3203-906T>C (n.3203-906T>C) c.2942T>C (p.Leu981Ser) | gnomAD v4 |
| 16 | g.24793638T>G | CA395176585 | TNRC6A | c.3341T>G (p.Leu1114Ter) c.332-906T>G (n.332-906T>G) c.2988T>G n.289T>G n.294T>G c.2582T>G (p.Leu861Ter) c.2915T>G (p.Leu972Ter) c.3176-906T>G (n.3176-906T>G) c.3368T>G (p.Leu1123Ter) c.3293T>G (p.Leu1098Ter) c.3203-906T>G (n.3203-906T>G) c.2942T>G (p.Leu981Ter) | |
| 16 | g.24793639A>C | CA395176589 | TNRC6A | c.3342A>C (p.Leu1114Phe) c.332-905A>C (n.332-905A>C) c.2989A>C n.290A>C n.295A>C c.2583A>C (p.Leu861Phe) c.2916A>C (p.Leu972Phe) c.3176-905A>C (n.3176-905A>C) c.3369A>C (p.Leu1123Phe) c.3294A>C (p.Leu1098Phe) c.3203-905A>C (n.3203-905A>C) c.2943A>C (p.Leu981Phe) | |
| 16 | g.24793639A>G | CA494198358 | TNRC6A | c.3342A>G (p.Leu1114=) c.332-905A>G (n.332-905A>G) c.2989A>G n.290A>G n.295A>G c.2583A>G (p.Leu861=) c.2916A>G (p.Leu972=) c.3176-905A>G (n.3176-905A>G) c.3369A>G (p.Leu1123=) c.3294A>G (p.Leu1098=) c.3203-905A>G (n.3203-905A>G) c.2943A>G (p.Leu981=) | gnomAD v4 |
| 16 | g.24793639A>T | CA395176593 | TNRC6A | c.3342A>T (p.Leu1114Phe) c.332-905A>T (n.332-905A>T) c.2989A>T n.290A>T n.295A>T c.2583A>T (p.Leu861Phe) c.2916A>T (p.Leu972Phe) c.3176-905A>T (n.3176-905A>T) c.3369A>T (p.Leu1123Phe) c.3294A>T (p.Leu1098Phe) c.3203-905A>T (n.3203-905A>T) c.2943A>T (p.Leu981Phe) | gnomAD v4 |
| 16 | g.24793640A>C | CA395176598 | TNRC6A | c.3343A>C (p.Ser1115Arg) c.332-904A>C (n.332-904A>C) c.2990A>C n.291A>C n.296A>C c.2584A>C (p.Ser862Arg) c.2917A>C (p.Ser973Arg) c.3176-904A>C (n.3176-904A>C) c.3370A>C (p.Ser1124Arg) c.3295A>C (p.Ser1099Arg) c.3203-904A>C (n.3203-904A>C) c.2944A>C (p.Ser982Arg) | |
| 16 | g.24793640A>G | CA395176594 | TNRC6A | c.3343A>G (p.Ser1115Gly) c.332-904A>G (n.332-904A>G) c.2990A>G n.291A>G n.296A>G c.2584A>G (p.Ser862Gly) c.2917A>G (p.Ser973Gly) c.3176-904A>G (n.3176-904A>G) c.3370A>G (p.Ser1124Gly) c.3295A>G (p.Ser1099Gly) c.3203-904A>G (n.3203-904A>G) c.2944A>G (p.Ser982Gly) | gnomAD v4 |
| 16 | g.24793640A>T | CA395176596 | TNRC6A | c.3343A>T (p.Ser1115Cys) c.332-904A>T (n.332-904A>T) c.2990A>T n.291A>T n.296A>T c.2584A>T (p.Ser862Cys) c.2917A>T (p.Ser973Cys) c.3176-904A>T (n.3176-904A>T) c.3370A>T (p.Ser1124Cys) c.3295A>T (p.Ser1099Cys) c.3203-904A>T (n.3203-904A>T) c.2944A>T (p.Ser982Cys) | |
| 16 | g.24793641G>A | CA7968888 | TNRC6A | c.3344G>A (p.Ser1115Asn) c.332-903G>A (n.332-903G>A) c.2991G>A n.292G>A n.297G>A c.2585G>A (p.Ser862Asn) c.2918G>A (p.Ser973Asn) c.3176-903G>A (n.3176-903G>A) c.3371G>A (p.Ser1124Asn) c.3296G>A (p.Ser1099Asn) c.3203-903G>A (n.3203-903G>A) c.2945G>A (p.Ser982Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.24793641G>C | CA395176600 | TNRC6A | c.3344G>C (p.Ser1115Thr) c.332-903G>C (n.332-903G>C) c.2991G>C n.292G>C n.297G>C c.2585G>C (p.Ser862Thr) c.2918G>C (p.Ser973Thr) c.3176-903G>C (n.3176-903G>C) c.3371G>C (p.Ser1124Thr) c.3296G>C (p.Ser1099Thr) c.3203-903G>C (n.3203-903G>C) c.2945G>C (p.Ser982Thr) | |
| 16 | g.24793641G= | CA2213968534 | TNRC6A | c.3344G= (p.Ser1115=) c.332-903G= (n.332-903G=) c.2991G= n.292G= n.297G= c.2585G= (p.Ser862=) c.2918G= (p.Ser973=) c.3176-903G= (n.3176-903G=) c.3371G= (p.Ser1124=) c.3296G= (p.Ser1099=) c.3203-903G= (n.3203-903G=) c.2945G= (p.Ser982=) | |
| 16 | g.24793641G>T | CA395176604 | TNRC6A | c.3344G>T (p.Ser1115Ile) c.332-903G>T (n.332-903G>T) c.2991G>T n.292G>T n.297G>T c.2585G>T (p.Ser862Ile) c.2918G>T (p.Ser973Ile) c.3176-903G>T (n.3176-903G>T) c.3371G>T (p.Ser1124Ile) c.3296G>T (p.Ser1099Ile) c.3203-903G>T (n.3203-903G>T) c.2945G>T (p.Ser982Ile) | |
| 16 | g.24793642C>A | CA395176608 | TNRC6A | c.3345C>A (p.Ser1115Arg) c.332-902C>A (n.332-902C>A) c.2992C>A n.293C>A n.298C>A c.2586C>A (p.Ser862Arg) c.2919C>A (p.Ser973Arg) c.3176-902C>A (n.3176-902C>A) c.3372C>A (p.Ser1124Arg) c.3297C>A (p.Ser1099Arg) c.3203-902C>A (n.3203-902C>A) c.2946C>A (p.Ser982Arg) | gnomAD v4 |
| 16 | g.24793642C>G | CA395176609 | TNRC6A | c.3345C>G (p.Ser1115Arg) c.332-902C>G (n.332-902C>G) c.2992C>G n.293C>G n.298C>G c.2586C>G (p.Ser862Arg) c.2919C>G (p.Ser973Arg) c.3176-902C>G (n.3176-902C>G) c.3372C>G (p.Ser1124Arg) c.3297C>G (p.Ser1099Arg) c.3203-902C>G (n.3203-902C>G) c.2946C>G (p.Ser982Arg) | |
| 16 | g.24793642C>T | CA494198362 | TNRC6A | c.3345C>T (p.Ser1115=) c.332-902C>T (n.332-902C>T) c.2992C>T n.293C>T n.298C>T c.2586C>T (p.Ser862=) c.2919C>T (p.Ser973=) c.3176-902C>T (n.3176-902C>T) c.3372C>T (p.Ser1124=) c.3297C>T (p.Ser1099=) c.3203-902C>T (n.3203-902C>T) c.2946C>T (p.Ser982=) | |
| 16 | g.24793643A>C | CA395176610 | TNRC6A | c.3346A>C (p.Lys1116Gln) c.332-901A>C (n.332-901A>C) c.2993A>C n.294A>C n.299A>C c.2587A>C (p.Lys863Gln) c.2920A>C (p.Lys974Gln) c.3176-901A>C (n.3176-901A>C) c.3373A>C (p.Lys1125Gln) c.3298A>C (p.Lys1100Gln) c.3203-901A>C (n.3203-901A>C) c.2947A>C (p.Lys983Gln) | |
| 16 | g.24793643A>G | CA395176617 | TNRC6A | c.3346A>G (p.Lys1116Glu) c.332-901A>G (n.332-901A>G) c.2993A>G n.294A>G n.299A>G c.2587A>G (p.Lys863Glu) c.2920A>G (p.Lys974Glu) c.3176-901A>G (n.3176-901A>G) c.3373A>G (p.Lys1125Glu) c.3298A>G (p.Lys1100Glu) c.3203-901A>G (n.3203-901A>G) c.2947A>G (p.Lys983Glu) | gnomAD v4 |
| 16 | g.24793643A>T | CA395176614 | TNRC6A | c.3346A>T (p.Lys1116Ter) c.332-901A>T (n.332-901A>T) c.2993A>T n.294A>T n.299A>T c.2587A>T (p.Lys863Ter) c.2920A>T (p.Lys974Ter) c.3176-901A>T (n.3176-901A>T) c.3373A>T (p.Lys1125Ter) c.3298A>T (p.Lys1100Ter) c.3203-901A>T (n.3203-901A>T) c.2947A>T (p.Lys983Ter) | |
| 16 | g.24793644A= | CA2213968539 | TNRC6A | c.3347A= (p.Lys1116=) c.332-900A= (n.332-900A=) c.2994A= n.295A= n.300A= c.2588A= (p.Lys863=) c.2921A= (p.Lys974=) c.3176-900A= (n.3176-900A=) c.3374A= (p.Lys1125=) c.3299A= (p.Lys1100=) c.3203-900A= (n.3203-900A=) c.2948A= (p.Lys983=) | |
| 16 | g.24793644A>C | CA395176620 | TNRC6A | c.3347A>C (p.Lys1116Thr) c.332-900A>C (n.332-900A>C) c.2994A>C n.295A>C n.300A>C c.2588A>C (p.Lys863Thr) c.2921A>C (p.Lys974Thr) c.3176-900A>C (n.3176-900A>C) c.3374A>C (p.Lys1125Thr) c.3299A>C (p.Lys1100Thr) c.3203-900A>C (n.3203-900A>C) c.2948A>C (p.Lys983Thr) | gnomAD v4 |
| 16 | g.24793644A>G | CA395176622 | TNRC6A | c.3347A>G (p.Lys1116Arg) c.332-900A>G (n.332-900A>G) c.2994A>G n.295A>G n.300A>G c.2588A>G (p.Lys863Arg) c.2921A>G (p.Lys974Arg) c.3176-900A>G (n.3176-900A>G) c.3374A>G (p.Lys1125Arg) c.3299A>G (p.Lys1100Arg) c.3203-900A>G (n.3203-900A>G) c.2948A>G (p.Lys983Arg) | dbSNP gnomAD v4 |
| 16 | g.24793644A>T | CA395176625 | TNRC6A | c.3347A>T (p.Lys1116Ile) c.332-900A>T (n.332-900A>T) c.2994A>T n.295A>T n.300A>T c.2588A>T (p.Lys863Ile) c.2921A>T (p.Lys974Ile) c.3176-900A>T (n.3176-900A>T) c.3374A>T (p.Lys1125Ile) c.3299A>T (p.Lys1100Ile) c.3203-900A>T (n.3203-900A>T) c.2948A>T (p.Lys983Ile) | |
| 16 | g.24793645A>C | CA395176627 | TNRC6A | c.3348A>C (p.Lys1116Asn) c.332-899A>C (n.332-899A>C) c.2995A>C n.296A>C n.301A>C c.2589A>C (p.Lys863Asn) c.2922A>C (p.Lys974Asn) c.3176-899A>C (n.3176-899A>C) c.3375A>C (p.Lys1125Asn) c.3300A>C (p.Lys1100Asn) c.3203-899A>C (n.3203-899A>C) c.2949A>C (p.Lys983Asn) | |
| 16 | g.24793645A>G | CA494198363 | TNRC6A | c.3348A>G (p.Lys1116=) c.332-899A>G (n.332-899A>G) c.2995A>G n.296A>G n.301A>G c.2589A>G (p.Lys863=) c.2922A>G (p.Lys974=) c.3176-899A>G (n.3176-899A>G) c.3375A>G (p.Lys1125=) c.3300A>G (p.Lys1100=) c.3203-899A>G (n.3203-899A>G) c.2949A>G (p.Lys983=) | |
| 16 | g.24793645A>T | CA395176628 | TNRC6A | c.3348A>T (p.Lys1116Asn) c.332-899A>T (n.332-899A>T) c.2995A>T n.296A>T n.301A>T c.2589A>T (p.Lys863Asn) c.2922A>T (p.Lys974Asn) c.3176-899A>T (n.3176-899A>T) c.3375A>T (p.Lys1125Asn) c.3300A>T (p.Lys1100Asn) c.3203-899A>T (n.3203-899A>T) c.2949A>T (p.Lys983Asn) | |
| 16 | g.24793646T>A | CA395176631 | TNRC6A | c.3349T>A (p.Ser1117Thr) c.332-898T>A (n.332-898T>A) c.2996T>A n.297T>A n.302T>A c.2590T>A (p.Ser864Thr) c.2923T>A (p.Ser975Thr) c.3176-898T>A (n.3176-898T>A) c.3376T>A (p.Ser1126Thr) c.3301T>A (p.Ser1101Thr) c.3203-898T>A (n.3203-898T>A) c.2950T>A (p.Ser984Thr) | |
| 16 | g.24793646T>C | CA395176634 | TNRC6A | c.3349T>C (p.Ser1117Pro) c.332-898T>C (n.332-898T>C) c.2996T>C n.297T>C n.302T>C c.2590T>C (p.Ser864Pro) c.2923T>C (p.Ser975Pro) c.3176-898T>C (n.3176-898T>C) c.3376T>C (p.Ser1126Pro) c.3301T>C (p.Ser1101Pro) c.3203-898T>C (n.3203-898T>C) c.2950T>C (p.Ser984Pro) | |
| 16 | g.24793646T>G | CA395176636 | TNRC6A | c.3349T>G (p.Ser1117Ala) c.332-898T>G (n.332-898T>G) c.2996T>G n.297T>G n.302T>G c.2590T>G (p.Ser864Ala) c.2923T>G (p.Ser975Ala) c.3176-898T>G (n.3176-898T>G) c.3376T>G (p.Ser1126Ala) c.3301T>G (p.Ser1101Ala) c.3203-898T>G (n.3203-898T>G) c.2950T>G (p.Ser984Ala) | dbSNP gnomAD v4 |
| 16 | g.24793646T= | CA2213968541 | TNRC6A | c.3349T= (p.Ser1117=) c.332-898T= (n.332-898T=) c.2996T= n.297T= n.302T= c.2590T= (p.Ser864=) c.2923T= (p.Ser975=) c.3176-898T= (n.3176-898T=) c.3376T= (p.Ser1126=) c.3301T= (p.Ser1101=) c.3203-898T= (n.3203-898T=) c.2950T= (p.Ser984=) | |
| 16 | g.24793647C>A | CA395176638 | TNRC6A | c.3350C>A (p.Ser1117Tyr) c.332-897C>A (n.332-897C>A) c.2997C>A n.298C>A n.303C>A c.2591C>A (p.Ser864Tyr) c.2924C>A (p.Ser975Tyr) c.3176-897C>A (n.3176-897C>A) c.3377C>A (p.Ser1126Tyr) c.3302C>A (p.Ser1101Tyr) c.3203-897C>A (n.3203-897C>A) c.2951C>A (p.Ser984Tyr) | gnomAD v4 |
| 16 | g.24793647C= | CA2213968543 | TNRC6A | c.3350C= (p.Ser1117=) c.332-897C= (n.332-897C=) c.2997C= n.298C= n.303C= c.2591C= (p.Ser864=) c.2924C= (p.Ser975=) c.3176-897C= (n.3176-897C=) c.3377C= (p.Ser1126=) c.3302C= (p.Ser1101=) c.3203-897C= (n.3203-897C=) c.2951C= (p.Ser984=) |