| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378555 |
| Start |
131511153:131511153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767012209
|
| CDS Mutation |
c.381A>C |
| AA Mutation |
p.Lys127Asn(p.K127N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378555 |
| Start |
131510965:131510965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201501253
|
| CDS Mutation |
c.569G>A |
| AA Mutation |
p.Arg190Gln(p.R190Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000378555 |
| Start |
131556290:131556291(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.69_70insGCGTCG |
| AA Mutation |
p.Ser23_Pro24insAlaSer(p.S23_P24insAS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |