| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000372927 |
| Start |
101145198:101145198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1700A>C |
| AA Mutation |
p.Lys567Thr(p.K567T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372927 |
| Start |
101162876:101162876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2180G>A |
| AA Mutation |
p.Gly727Glu(p.G727E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372927 |
| Start |
101148073:101148073(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2011delA |
| AA Mutation |
p.Thr671LeufsTer10(p.T671Lfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |