Gene >> NOTUM
| ID |
1 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000409678 |
| Start |
81957019:81957019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.751A>T |
| AA Mutation |
p.Lys251Ter(p.K251*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000409678 |
| Start |
81953003:81953014(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1438_1449delCCGCAGGGACTG |
| AA Mutation |
p.Pro480_Leu483del(p.P480_L483del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |