| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261407 |
| Start |
6977428:6977428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1286G>C |
| AA Mutation |
p.Trp429Ser(p.W429S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000261407 |
| Start |
6978505:6978505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.876A>C |
| AA Mutation |
p.Glu292Asp(p.E292D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261407 |
| Start |
6983438:6983439(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.252dupT |
| AA Mutation |
p.Asn85Ter(p.N85*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |