| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197409845:197409845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.829G>T |
| AA Mutation |
p.Ala277Ser(p.A277S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197396183:197396183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3412G>C |
| AA Mutation |
p.Val1138Leu(p.V1138L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000335508 |
| Start |
197401985:197401985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2223G>T |
| AA Mutation |
p.Lys741Asn(p.K741N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |