| Mutation ID |
87 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389658 |
| Start |
7012052:7012052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769949964
|
| CDS Mutation |
c.3450C>A |
| AA Mutation |
p.Cys1150Ter(p.C1150*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
88 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6958663:6958663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7779-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LAMA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6985394:6985394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5503G>C |
| AA Mutation |
p.Glu1835Gln(p.E1835Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6997827:6997827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4721C>T |
| AA Mutation |
p.Ala1574Val(p.A1574V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6950864:6950864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs548903685
|
| CDS Mutation |
c.8315G>A |
| AA Mutation |
p.Arg2772His(p.R2772H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6943296:6943296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8951A>C |
| AA Mutation |
p.Lys2984Thr(p.K2984T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6983193:6983193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5702G>T |
| AA Mutation |
p.Ser1901Ile(p.S1901I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
7013846:7013846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3332G>C |
| AA Mutation |
p.Cys1111Ser(p.C1111S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6942126:6942126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746161956
|
| CDS Mutation |
c.9181G>A |
| AA Mutation |
p.Glu3061Lys(p.E3061K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6986183:6986183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5333G>T |
| AA Mutation |
p.Ser1778Ile(p.S1778I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389658 |
| Start |
7046323:7046323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.813C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6958515:6958515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7926G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389658 |
| Start |
7033011:7033011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139988519
|
| CDS Mutation |
c.2136G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389658 |
| Start |
6997745:6997745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4803C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389658 |
| Start |
7014034:7014034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757775104
|
| CDS Mutation |
c.3144C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389658 |
| Start |
7023204:7023204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746980743
|
| CDS Mutation |
c.2661C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389658 |
| Start |
7049197:7049197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.649G>T |
| AA Mutation |
p.Glu217Ter(p.E217*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389658 |
| Start |
7017281:7017281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2805C>A |
| AA Mutation |
p.Cys935Ter(p.C935*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|