| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000066544 |
| Start |
47157252:47157252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201098929
|
| CDS Mutation |
c.608C>T |
| AA Mutation |
p.Thr203Met(p.T203M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000066544 |
| Start |
47122569:47122569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2267C>T |
| AA Mutation |
p.Ala756Val(p.A756V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000066544 |
| Start |
47141945:47141948(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1456_1459delAATA |
| AA Mutation |
p.Asn486PhefsTer2(p.N486Ffs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |