| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240093 |
| Start |
28527485:28527485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.725C>T |
| AA Mutation |
p.Ala242Val(p.A242V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240093 |
| Start |
28527823:28527823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1063G>A |
| AA Mutation |
p.Asp355Asn(p.D355N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240093 |
| Start |
28527693:28527693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.933G>T |
| AA Mutation |
p.Trp311Cys(p.W311C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |