| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377034 |
| Start |
29607150:29607150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2061G>A |
| AA Mutation |
p.Trp687Ter(p.W687*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29609366:29609367(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs777471402
|
| CDS Mutation |
c.1721dupC |
| AA Mutation |
p.Ala575SerfsTer2(p.A575Sfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GABBR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29630533:29630533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777523377
|
| CDS Mutation |
c.400G>A |
| AA Mutation |
p.Asp134Asn(p.D134N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29612584:29612584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1597C>T |
| AA Mutation |
p.Arg533Trp(p.R533W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29608609:29608609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138809665
|
| CDS Mutation |
c.1984G>A |
| AA Mutation |
p.Val662Ile(p.V662I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29627523:29627523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.620C>T |
| AA Mutation |
p.Pro207Leu(p.P207L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29613383:29613383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1426G>A |
| AA Mutation |
p.Ala476Thr(p.A476T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29609321:29609321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1767G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000377034 |
| Start |
29606899:29606899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2215G>T |
| AA Mutation |
p.Glu739Ter(p.E739*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|