| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305218 |
| Start |
64203493:64203493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1430A>G |
| AA Mutation |
p.Asn477Ser(p.N477S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305218 |
| Start |
64203140:64203140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1298G>A |
| AA Mutation |
p.Arg433Gln(p.R433Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000305218 |
| Start |
64197582:64197582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.889C>T |
| AA Mutation |
p.Arg297Ter(p.R297*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |