| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52661605:52661605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1288C>A |
| AA Mutation |
p.Leu430Met(p.L430M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52683671:52683671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.247C>T |
| AA Mutation |
p.Arg83Cys(p.R83C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52656316:52656317(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3512dupA |
| AA Mutation |
p.Asn1171LysfsTer8(p.N1171Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |