| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371144 |
| Start |
124057953:124057953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1392G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371144 |
| Start |
124062995:124062995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1731+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000371144 |
| Start |
124042593:124042601(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.410_418delGACATATGC |
| AA Mutation |
p.Arg137_Gln140delinsLys(p.R137_Q140delinsK) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |