| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287844 |
| Start |
151215607:151215607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1527A>T |
| AA Mutation |
p.Gln509His(p.Q509H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287844 |
| Start |
151218589:151218589(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1199delA |
| AA Mutation |
p.Asn400MetfsTer2(p.N400Mfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000287844 |
| Start |
151216005:151216005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1363C>T |
| AA Mutation |
p.Arg455Ter(p.R455*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |