| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348367 |
| Start |
112168505:112168505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.914G>T |
| AA Mutation |
p.Arg305Leu(p.R305L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000348367 |
| Start |
112153603:112153606(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2431_2434delCCTC |
| AA Mutation |
p.Pro811AsnfsTer8(p.P811Nfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000348367 |
| Start |
112175706:112175706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.307G>T |
| AA Mutation |
p.Gly103Ter(p.G103*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |