| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17849663:17849664(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1148_1149insTTTAAAAGATTTGATTAAAA |
| AA Mutation |
p.Gln384LeufsTer12(p.Q384Lfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000569591 |
| Start |
17853111:17853112(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1394_1395insATATACAAG |
| AA Mutation |
p.Val465_Met466insTyrThrArg(p.V465_M466insYTR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MRC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17823188:17823188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782266740
|
| CDS Mutation |
c.176G>A |
| AA Mutation |
p.Arg59Gln(p.R59Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17866682:17866682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1904C>A |
| AA Mutation |
p.Pro635Gln(p.P635Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17823412:17823412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.400G>T |
| AA Mutation |
p.Gly134Cys(p.G134C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17902084:17902084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3761G>T |
| AA Mutation |
p.Arg1254Ile(p.R1254I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17902068:17902068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3745G>A |
| AA Mutation |
p.Glu1249Lys(p.E1249K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17823216:17823216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.204T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000569591 |
| Start |
17866686:17866686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781948465
|
| CDS Mutation |
c.1908G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000569591 |
| Start |
17902116:17902116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3793C>T |
| AA Mutation |
p.Arg1265Ter(p.R1265*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|