| ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372915 |
| Start |
39334762:39334762(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8189delA |
| AA Mutation |
p.Gln2730ArgfsTer3(p.Q2730Rfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372915 |
| Start |
39335226:39335226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8653C>T |
| AA Mutation |
p.Gln2885Ter(p.Q2885*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372915 |
| Start |
39359189:39359190(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12189dupA |
| AA Mutation |
p.Val4064SerfsTer4(p.V4064Sfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |