| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375978 |
| Start |
31845172:31845172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149951103
|
| CDS Mutation |
c.371G>A |
| AA Mutation |
p.Arg124Gln(p.R124Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375978 |
| Start |
31845164:31845164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773926481
|
| CDS Mutation |
c.379G>A |
| AA Mutation |
p.Ala127Thr(p.A127T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375978 |
| Start |
31844553:31844553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.990G>T |
| AA Mutation |
p.Glu330Asp(p.E330D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |