| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000512086 |
| Start |
7373396:7373396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746643033
|
| CDS Mutation |
c.1423C>T |
| AA Mutation |
p.Arg475Trp(p.R475W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000512086 |
| Start |
7370043:7370043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1769A>C |
| AA Mutation |
p.Asn590Thr(p.N590T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000512086 |
| Start |
7370067:7370067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1747-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |