| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354694 |
| Start |
30588037:30588037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.242A>C |
| AA Mutation |
p.Lys81Thr(p.K81T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354694 |
| Start |
30579235:30579235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1423G>C |
| AA Mutation |
p.Gly475Arg(p.G475R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000354694 |
| Start |
30581409:30581409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.748-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |