| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396553 |
| Start |
10484873:10484873(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.648delC |
| AA Mutation |
p.Asn217ThrfsTer42(p.N217Tfs*42) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000396553 |
| Start |
10493545:10493545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1134+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMPD3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396553 |
| Start |
10501502:10501502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748852415
|
| CDS Mutation |
c.1754C>T |
| AA Mutation |
p.Pro585Leu(p.P585L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396553 |
| Start |
10505768:10505768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755071594
|
| CDS Mutation |
c.2188C>T |
| AA Mutation |
p.Arg730Ter(p.R730*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|