| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000429927 |
| Start |
75625949:75625949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.40A>G |
| AA Mutation |
p.Ser14Gly(p.S14G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000429927 |
| Start |
75597021:75597021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1236T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000429927 |
| Start |
75625955:75625955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.34G>T |
| AA Mutation |
p.Glu12Ter(p.E12*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |