| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265517 |
| Start |
99622820:99622820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144600401
|
| CDS Mutation |
c.2657C>T |
| AA Mutation |
p.Pro886Leu(p.P886L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265517 |
| Start |
99618976:99618976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2220A>T |
| AA Mutation |
p.Glu740Asp(p.E740D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant;intron_variant |
| Transcription ID |
ENST00000265517 |
| Start |
99619099:99619102(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2342+3_2342+6delAAGT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |