| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000250617 |
| Start |
136681962:136681962(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1486delA |
| AA Mutation |
p.Ile496TyrfsTer3(p.I496Yfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000250617 |
| Start |
136682827:136682827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1410C>A |
| AA Mutation |
p.Tyr470Ter(p.Y470*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000250617 |
| Start |
136668029:136668029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2331A>C |
| AA Mutation |
p.Ter777TyrextTer15(p.*777Yext*15) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |