| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70760738:70760738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3557G>T |
| AA Mutation |
p.Gly1186Val(p.G1186V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70758257:70758257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3150C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373207 |
| Start |
70741026:70741026(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1788delC |
| AA Mutation |
p.Phe596LeufsTer53(p.F596Lfs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |