| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261183 |
| Start |
76394685:76394685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.717T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261183 |
| Start |
76384318:76384318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1566T>G |
| AA Mutation |
p.Tyr522Ter(p.Y522*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261183 |
| Start |
76386611:76386612(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1401dupA |
| AA Mutation |
p.Trp468MetfsTer8(p.W468Mfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |