| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222982 |
| Start |
99676179:99676179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.101A>G |
| AA Mutation |
p.Lys34Arg(p.K34R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222982 |
| Start |
99672595:99672595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.303C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000222982 |
| Start |
99650096:99650098(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1388_1390delCCT |
| AA Mutation |
p.Ser463del(p.S463del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |