| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196715740:196715740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1667A>T |
| AA Mutation |
p.Asn556Ile(p.N556I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196745858:196745858(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3355delG |
| AA Mutation |
p.Asp1119ThrfsTer32(p.D1119Tfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367429 |
| Start |
196745904:196745904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3398C>A |
| AA Mutation |
p.Ser1133Ter(p.S1133*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |