| ID |
7 |
| Mutation Consequence |
frameshift_variant;start_lost |
| Transcription ID |
ENST00000357396 |
| Start |
41796680:41796680(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6delG |
| AA Mutation |
p.Ser5GlnfsTer21(p.S5Qfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357396 |
| Start |
41810857:41810857(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.658delC |
| AA Mutation |
p.Leu220TyrfsTer15(p.L220Yfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357396 |
| Start |
41797765:41797765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.241G>T |
| AA Mutation |
p.Gly81Ter(p.G81*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |