| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260010 |
| Start |
153703349:153703349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.442C>G |
| AA Mutation |
p.Leu148Val(p.L148V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260010 |
| Start |
153704921:153704921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2014T>G |
| AA Mutation |
p.Leu672Val(p.L672V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260010 |
| Start |
153703949:153703950(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1047dupT |
| AA Mutation |
p.Leu350SerfsTer20(p.L350Sfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |