| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326739 |
| Start |
49026994:49026994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.585G>T |
| AA Mutation |
p.Lys195Asn(p.K195N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326739 |
| Start |
49026815:49026815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.691C>T |
| AA Mutation |
p.Arg231Trp(p.R231W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326739 |
| Start |
49028463:49028464(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.215_216dupCA |
| AA Mutation |
p.Val73GlnfsTer9(p.V73Qfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |