Gene >> AMH
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221496 |
| Start |
2249525:2249525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Gly65Ser(p.G65S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221496 |
| Start |
2249535:2249535(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.208delC |
| AA Mutation |
p.Leu70CysfsTer7(p.L70Cfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |