| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000277541 |
| Start |
136511247:136511247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761406127
|
| CDS Mutation |
c.2492C>T |
| AA Mutation |
p.Ala831Val(p.A831V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000277541 |
| Start |
136496113:136496113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7626C>G |
| AA Mutation |
p.Ser2542Arg(p.S2542R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000277541 |
| Start |
136500734:136500734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5752G>A |
| AA Mutation |
p.Ala1918Thr(p.A1918T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |