| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359429 |
| Start |
210019742:210019743(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.638_639insC |
| AA Mutation |
p.Leu213PhefsTer15(p.L213Ffs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000359429 |
| Start |
210009738:210009738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.202+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000359429 |
| Start |
210019789:210019789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.685T>C |
| AA Mutation |
p.Ter229ArgextTer69(p.*229Rext*69) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |