| ID |
3 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000397942 |
| Start |
70325478:70325479(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.810_811insATAGCTGTTTCCTGAG |
| AA Mutation |
p.Gln271IlefsTer5(p.Q271Ifs*5) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397942 |
| Start |
70325348:70325349(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.680_681insC |
| AA Mutation |
p.Leu227PhefsTer3(p.L227Ffs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397942 |
| Start |
70325477:70325478(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.809_810insGT |
| AA Mutation |
p.Asp270GlufsTer5(p.D270Efs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000397942 |
| Start |
70325350:70325370(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.684_704delTGAGGGGATGTATCCTTTGGA |
| AA Mutation |
p.Asp228_Leu234del(p.D228_L234del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |