| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372396 |
| Start |
43697934:43697934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2762G>T |
| AA Mutation |
p.Arg921Met(p.R921M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372396 |
| Start |
43698003:43698003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2831A>C |
| AA Mutation |
p.Glu944Ala(p.E944A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000372396 |
| Start |
43690897:43690898(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2091_2099dupCCAGAAGCA |
| AA Mutation |
p.Lys699_Gln700insHisGlnLys(p.K699_Q700insHQK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |