| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63208272:63208272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3397C>G |
| AA Mutation |
p.Pro1133Ala(p.P1133A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63207772:63207772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3897G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000399262 |
| Start |
63213553:63213561(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2606_2614delGAACACATG |
| AA Mutation |
p.Gly869_His871del(p.G869_H871del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |