| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000022615 |
| Start |
42395095:42395095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.79G>A |
| AA Mutation |
p.Val27Ile(p.V27I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000022615 |
| Start |
42395134:42395134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.117+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000022615 |
| Start |
42402016:42402017(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.551+1_551+2insAACGATGGCAC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |