| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316891 |
| Start |
39847995:39847995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149680997
|
| CDS Mutation |
c.806C>T |
| AA Mutation |
p.Ser269Leu(p.S269L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316891 |
| Start |
39848016:39848016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.785G>A |
| AA Mutation |
p.Arg262His(p.R262H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316891 |
| Start |
39847225:39847225(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1001delT |
| AA Mutation |
p.Leu334Ter(p.L334*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |