| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315323 |
| Start |
44557873:44557873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.185G>T |
| AA Mutation |
p.Gly62Val(p.G62V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315323 |
| Start |
44557890:44557890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.202G>T |
| AA Mutation |
p.Asp68Tyr(p.D68Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000315323 |
| Start |
44558302:44558307(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.615_620delCAAGGT |
| AA Mutation |
p.Lys206_Val207del(p.K206_V207del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |