| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000352035 |
| Start |
41906549:41906549(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.845delG |
| AA Mutation |
p.Gly282ValfsTer14(p.G282Vfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000352035 |
| Start |
41893073:41893073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1561C>T |
| AA Mutation |
p.Arg521Ter(p.R521*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000352035 |
| Start |
41871828:41871829(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2797dupG |
| AA Mutation |
p.Asp933GlyfsTer16(p.D933Gfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |