| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265000 |
| Start |
173248323:173248323(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.473delT |
| AA Mutation |
p.Leu158TrpfsTer25(p.L158Wfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265000 |
| Start |
173295458:173295458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.817C>T |
| AA Mutation |
p.Arg273Ter(p.R273*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALNT7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265000 |
| Start |
173295459:173295459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775788103
|
| CDS Mutation |
c.818G>A |
| AA Mutation |
p.Arg273Gln(p.R273Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265000 |
| Start |
173302095:173302095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1197C>A |
| AA Mutation |
p.Phe399Leu(p.F399L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265000 |
| Start |
173248104:173248104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.251C>G |
| AA Mutation |
p.Ser84Cys(p.S84C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265000 |
| Start |
173248152:173248152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.299G>A |
| AA Mutation |
p.Gly100Glu(p.G100E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265000 |
| Start |
173317646:173317646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748069163
|
| CDS Mutation |
c.1621G>A |
| AA Mutation |
p.Glu541Lys(p.E541K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265000 |
| Start |
173314072:173314072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761230821
|
| CDS Mutation |
c.1504C>T |
| AA Mutation |
p.Arg502Ter(p.R502*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|