Gene >> ATM
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278616 |
| Start |
108250966:108250966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1501C>A |
| AA Mutation |
p.Gln501Lys(p.Q501K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278616 |
| Start |
108252902:108252902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1888G>T |
| AA Mutation |
p.Val630Leu(p.V630L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |