| Mutation ID |
44 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112189136:112189136(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.788delC |
| AA Mutation |
p.Pro263LeufsTer9(p.P263Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000230538 |
| Start |
112119281:112119281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4696C>T |
| AA Mutation |
p.Arg1566Ter(p.R1566*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LAMA4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112175316:112175316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1354G>A |
| AA Mutation |
p.Glu452Lys(p.E452K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112187562:112187562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.854G>A |
| AA Mutation |
p.Arg285Gln(p.R285Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112207088:112207088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147016335
|
| CDS Mutation |
c.355G>A |
| AA Mutation |
p.Gly119Arg(p.G119R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112136163:112136163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782447524
|
| CDS Mutation |
c.3374C>T |
| AA Mutation |
p.Thr1125Met(p.T1125M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112158876:112158876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137893207
|
| CDS Mutation |
c.1673C>T |
| AA Mutation |
p.Ala558Val(p.A558V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112129973:112129973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4036A>G |
| AA Mutation |
p.Thr1346Ala(p.T1346A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112141482:112141482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2689C>A |
| AA Mutation |
p.Leu897Ile(p.L897I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112165186:112165186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1642C>A |
| AA Mutation |
p.Leu548Ile(p.L548I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112207083:112207083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782460149
|
| CDS Mutation |
c.360T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112109470:112109470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147579862
|
| CDS Mutation |
c.5439C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112216398:112216398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs727503114
|
| CDS Mutation |
c.267C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112140769:112140769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2967C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230538 |
| Start |
112131060:112131060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3876C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|