| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56399296:56399296(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1119delT |
| AA Mutation |
p.Phe373LeufsTer16(p.F373Lfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56403157:56403167(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.534_544delGGAAGCACCCA |
| AA Mutation |
p.Lys178AsnfsTer35(p.K178Nfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPAT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56401333:56401333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.883G>A |
| AA Mutation |
p.Glu295Lys(p.E295K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56399234:56399234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1181G>A |
| AA Mutation |
p.Arg394Lys(p.R394K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56406527:56406527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.370G>A |
| AA Mutation |
p.Glu124Lys(p.E124K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56407675:56407675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200714501
|
| CDS Mutation |
c.170C>T |
| AA Mutation |
p.Ser57Leu(p.S57L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264220 |
| Start |
56395441:56395441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1465G>T |
| AA Mutation |
p.Glu489Ter(p.E489*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264220 |
| Start |
56406653:56406654(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.243dupA |
| AA Mutation |
p.Leu82IlefsTer20(p.L82Ifs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|