| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296543 |
| Start |
139370290:139370291(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1841dupA |
| AA Mutation |
p.Asn614LysfsTer17(p.N614Kfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296543 |
| Start |
139342931:139342932(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.512dupT |
| AA Mutation |
p.Leu171PhefsTer5(p.L171Ffs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000296543 |
| Start |
139354025:139354025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1015-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |