| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258888 |
| Start |
84857035:84857036(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2910dupA |
| AA Mutation |
p.Pro971ThrfsTer8(p.P971Tfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000258888 |
| Start |
84856860:84856874(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2728_2742delAAGGGGACGCAGTCA |
| AA Mutation |
p.Lys910_Ser914del(p.K910_S914del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALPK3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258888 |
| Start |
84839031:84839031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.962G>A |
| AA Mutation |
p.Arg321His(p.R321H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258888 |
| Start |
84840778:84840778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2105C>A |
| AA Mutation |
p.Ser702Tyr(p.S702Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258888 |
| Start |
84862646:84862646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4747A>C |
| AA Mutation |
p.Ile1583Leu(p.I1583L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258888 |
| Start |
84827547:84827547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762694867
|
| CDS Mutation |
c.852G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258888 |
| Start |
84859292:84859292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4473C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|