| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316059 |
| Start |
58610311:58610311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.594G>C |
| AA Mutation |
p.Glu198Asp(p.E198D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316059 |
| Start |
58611630:58611630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.749C>T |
| AA Mutation |
p.Ser250Leu(p.S250L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316059 |
| Start |
58617593:58617593(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1600A>T |
| AA Mutation |
p.Ile534Phe(p.I534F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |