| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000440460 |
| Start |
111993536:111993536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1313A>T |
| AA Mutation |
p.Gln438Leu(p.Q438L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000440460 |
| Start |
111989016:111989016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1074G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000440460 |
| Start |
111985236:111985238(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.924_926delACT |
| AA Mutation |
p.Leu310del(p.L310del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |