| ID |
6 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000371953 |
| Start |
87965296:87965297(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1036_1037insCTGAATTTTTTTTTATCAAGAGGGATAAAACACCATGAAAATA |
| AA Mutation |
p.Tyr346SerfsTer13(p.Y346Sfs*13) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371953 |
| Start |
87961054:87961055(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.968dupA |
| AA Mutation |
p.Asn323LysfsTer2(p.N323Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371953 |
| Start |
87952260:87952260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.634+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000371953 |
| Start |
87957912:87957917(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.694_699delACACGA |
| AA Mutation |
p.Thr232_Arg233del(p.T232_R233del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |