| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397938 |
| Start |
29297895:29297895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1363C>T |
| AA Mutation |
p.Arg455Trp(p.R455W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397938 |
| Start |
29299824:29299824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1904G>T |
| AA Mutation |
p.Gly635Val(p.G635V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000397938 |
| Start |
29300161:29300161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1971G>T |
| AA Mutation |
p.Ter657TyrextTer16(p.*657Yext*16) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |