| Mutation ID |
47 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23953110:23953110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9856+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23753813:23753813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.947+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LAMA3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23928187:23928187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148548958
|
| CDS Mutation |
c.8242G>A |
| AA Mutation |
p.Val2748Ile(p.V2748I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23901216:23901216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373464847
|
| CDS Mutation |
c.6094G>A |
| AA Mutation |
p.Glu2032Lys(p.E2032K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23713928:23713928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.303C>A |
| AA Mutation |
p.Phe101Leu(p.F101L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23842474:23842474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369681836
|
| CDS Mutation |
c.3416C>T |
| AA Mutation |
p.Pro1139Leu(p.P1139L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23846324:23846324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3747G>T |
| AA Mutation |
p.Lys1249Asn(p.K1249N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23921554:23921554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8146C>A |
| AA Mutation |
p.Leu2716Met(p.L2716M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23949800:23949800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9387G>T |
| AA Mutation |
p.Lys3129Asn(p.K3129N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23950111:23950111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9594C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313654 |
| Start |
23857971:23857971(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4267delG |
| AA Mutation |
p.Ala1423LeufsTer8(p.A1423Lfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000313654 |
| Start |
23901294:23901294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6172G>T |
| AA Mutation |
p.Glu2058Ter(p.E2058*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000313654 |
| Start |
23898825:23898825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5701G>T |
| AA Mutation |
p.Glu1901Ter(p.E1901*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000313654 |
| Start |
23915298:23915298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7654C>T |
| AA Mutation |
p.Arg2552Ter(p.R2552*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|