| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000238497 |
| Start |
63400100:63400101(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.737dupA |
| AA Mutation |
p.Asn246LysfsTer2(p.N246Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000238497 |
| Start |
63400595:63400596(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.592dupT |
| AA Mutation |
p.Ser198PhefsTer6(p.S198Ffs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000238497 |
| Start |
63400047:63400047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.790+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |