| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367409 |
| Start |
197139858:197139858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1935C>A |
| AA Mutation |
p.Phe645Leu(p.F645L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367409 |
| Start |
197096018:197096018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8967T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367409 |
| Start |
197101393:197101394(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7857dupA |
| AA Mutation |
p.Gln2620ThrfsTer17(p.Q2620Tfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |