| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269576 |
| Start |
40819614:40819614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1276G>T |
| AA Mutation |
p.Glu426Ter(p.E426*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269576 |
| Start |
40822534:40822534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.52G>T |
| AA Mutation |
p.Gly18Ter(p.G18*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000269576 |
| Start |
40820276:40820278(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1013_1015delCCT |
| AA Mutation |
p.Ala338_Trp339delinsGly(p.A338_W339delinsG) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |