| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358691 |
| Start |
67109538:67109538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4067C>T |
| AA Mutation |
p.Pro1356Leu(p.P1356L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358691 |
| Start |
67120512:67120512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3731G>T |
| AA Mutation |
p.Gly1244Val(p.G1244V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358691 |
| Start |
67107633:67107633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4777G>T |
| AA Mutation |
p.Glu1593Ter(p.E1593*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |