| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000302053 |
| Start |
154584422:154584425(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2300_2303delTTGA |
| AA Mutation |
p.Ile767ArgfsTer4(p.I767Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000302053 |
| Start |
154586408:154586409(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1020_1021insCCTGGAAGTACTGGAAGCCGGAACTCTGGGAGCCCTGG |
| AA Mutation |
p.Thr341ProfsTer93(p.T341Pfs*93) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000302053 |
| Start |
154586302:154586303(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1124_1126dupCTG |
| AA Mutation |
p.Ser375_Glu376insAla(p.S375_E376insA) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |