| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183137797:183137797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756554690
|
| CDS Mutation |
c.4443C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183132506:183132507(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3673_3674insAAAT |
| AA Mutation |
p.Thr1225LysfsTer5(p.T1225Kfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LAMC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183115595:183115595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746664718
|
| CDS Mutation |
c.1286G>A |
| AA Mutation |
p.Arg429His(p.R429H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183118144:183118144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1988G>T |
| AA Mutation |
p.Arg663Ile(p.R663I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183128705:183128705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3235G>A |
| AA Mutation |
p.Glu1079Lys(p.E1079K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183132519:183132519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3686T>G |
| AA Mutation |
p.Ile1229Ser(p.I1229S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258341 |
| Start |
183116884:183116884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1545C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258341 |
| Start |
183137768:183137768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4414G>T |
| AA Mutation |
p.Glu1472Ter(p.E1472*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000258341 |
| Start |
183023789:183023800(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.80_91delCCGCCGCGGCGG |
| AA Mutation |
p.Ala27_Ala30del(p.A27_A30del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|