| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378295 |
| Start |
3732863:3732863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1695C>A |
| AA Mutation |
p.Asn565Lys(p.N565K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000378295 |
| Start |
3683180:3683180(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.186+1delG |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000378295 |
| Start |
3683181:3683181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.186+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |