| Mutation ID |
3 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000252211 |
| Start |
28366183:28366184(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1515_1516insTCCATGTTTTTTAATTTTAATTTTTTGTCGAGATAGAGTTTTGCT |
| AA Mutation |
p.Glu505_Lys506insSerMetPhePheAsnPheAsnPheLeuSerArgTerSerPheAla(p.E505_K506insSMFFNFNFLSR*SFA) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252211 |
| Start |
28365977:28365977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149951499
|
| CDS Mutation |
c.1309C>T |
| AA Mutation |
p.Arg437Ter(p.R437*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252211 |
| Start |
28359677:28359677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.91G>T |
| AA Mutation |
p.Glu31Ter(p.E31*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |