| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000442250 |
| Start |
172484850:172484850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751599520
|
| CDS Mutation |
c.1735C>T |
| AA Mutation |
p.Arg579Ter(p.R579*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172491331:172491332(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3006_3006+1insAGAAAAAGAA |
| AA Mutation |
p.Glu1003ArgfsTer20(p.E1003Rfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGA6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172491091:172491091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2864C>A |
| AA Mutation |
p.Ser955Tyr(p.S955Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172489596:172489596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2734T>C |
| AA Mutation |
p.Ser912Pro(p.S912P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172469233:172469233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496G>T |
| AA Mutation |
p.Asp166Tyr(p.D166Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172484851:172484851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1736G>A |
| AA Mutation |
p.Arg579Gln(p.R579Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172480001:172480001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1616A>G |
| AA Mutation |
p.Lys539Arg(p.K539R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172489590:172489590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2728G>T |
| AA Mutation |
p.Val910Leu(p.V910L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172491304:172491304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61757097
|
| CDS Mutation |
c.2979G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172485105:172485128(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1828-14_1837delTGCTTTTCATGCAGGATAATATCA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|