| ID |
12 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000432109 |
| Start |
201285316:201285316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1303C>T |
| AA Mutation |
p.Arg435Ter(p.R435*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000432109 |
| Start |
201285265:201285265(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1252G>T |
| AA Mutation |
p.Gly418Ter(p.G418*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000432109 |
| Start |
201286561:201286572(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1410_1421delAAGAAAAAAACT |
| AA Mutation |
p.Arg471_Leu474del(p.R471_L474del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |