| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360731 |
| Start |
34670651:34670651(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1266delC |
| AA Mutation |
p.Ala423ProfsTer10(p.A423Pfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360731 |
| Start |
34708777:34708778(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs753268577
|
| CDS Mutation |
c.1748dupA |
| AA Mutation |
p.Asn583LysfsTer8(p.N583Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000360731 |
| Start |
34707296:34707322(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1447_1473delAGTATCGGAAATTGCCCGTTTTCTCAG |
| AA Mutation |
p.Ser483_Gln491del(p.S483_Q491del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |