| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309268 |
| Start |
73517905:73517905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1294A>T |
| AA Mutation |
p.Thr432Ser(p.T432S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309268 |
| Start |
73518828:73518828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.642G>C |
| AA Mutation |
p.Trp214Cys(p.W214C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309268 |
| Start |
73518580:73518580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.803A>T |
| AA Mutation |
p.Glu268Val(p.E268V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |