| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000505374 |
| Start |
55798535:55798535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1579A>C |
| AA Mutation |
p.Lys527Gln(p.K527Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000505374 |
| Start |
55815160:55815160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1975G>T |
| AA Mutation |
p.Val659Leu(p.V659L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000505374 |
| Start |
55764020:55764020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290C>G |
| AA Mutation |
p.Ser97Ter(p.S97*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |