| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000217957 |
| Start |
108073370:108073370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.688+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000217957 |
| Start |
108073301:108073302(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.624_626dupTTA |
| AA Mutation |
p.Tyr209dup(p.Y209dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000217957 |
| Start |
108045131:108045131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1A>T |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |