| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435029 |
| Start |
155014626:155014626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753391654
|
| CDS Mutation |
c.767G>A |
| AA Mutation |
p.Arg256His(p.R256H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435029 |
| Start |
155014326:155014326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774743075
|
| CDS Mutation |
c.467G>A |
| AA Mutation |
p.Arg156His(p.R156H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000435029 |
| Start |
155015906:155015906(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2047delC |
| AA Mutation |
p.Gln683AsnfsTer61(p.Q683Nfs*61) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |