| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29719904:29719904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2876C>T |
| AA Mutation |
p.Pro959Leu(p.P959L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346128 |
| Start |
29708792:29708793(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4616_4617delTT |
| AA Mutation |
p.Phe1539Ter(p.F1539*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000346128 |
| Start |
29718385:29718385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3757G>T |
| AA Mutation |
p.Glu1253Ter(p.E1253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |