| Mutation ID |
54 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700160:129700160(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.618delC |
| AA Mutation |
p.Thr207ArgfsTer75(p.T207Rfs*75) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700159:129700160(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs747811524
|
| CDS Mutation |
c.618dupC |
| AA Mutation |
p.Thr207HisfsTer29(p.T207Hfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TMEM132D
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129081798:129081798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1884G>T |
| AA Mutation |
p.Gln628His(p.Q628H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129531174:129531174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1000G>T |
| AA Mutation |
p.Gly334Cys(p.G334C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129082002:129082002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1680T>G |
| AA Mutation |
p.Asp560Glu(p.D560E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129074283:129074283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2892G>C |
| AA Mutation |
p.Trp964Cys(p.W964C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700447:129700447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.331A>G |
| AA Mutation |
p.Met111Val(p.M111V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129081950:129081950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1732C>T |
| AA Mutation |
p.Arg578Trp(p.R578W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129084510:129084510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542855447
|
| CDS Mutation |
c.1636G>A |
| AA Mutation |
p.Val546Ile(p.V546I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129075047:129075047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2128A>G |
| AA Mutation |
p.Ser710Gly(p.S710G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129074982:129074982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2193C>A |
| AA Mutation |
p.Phe731Leu(p.F731L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129074641:129074641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2534C>A |
| AA Mutation |
p.Ser845Tyr(p.S845Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700281:129700281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.497C>T |
| AA Mutation |
p.Pro166Leu(p.P166L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129074006:129074006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761917469
|
| CDS Mutation |
c.3169G>A |
| AA Mutation |
p.Asp1057Asn(p.D1057N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129081873:129081873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1809A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129078717:129078717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1932T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129337733:129337733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1200G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700487:129700487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760324975
|
| CDS Mutation |
c.291C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700291:129700291(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.487delG |
| AA Mutation |
p.Glu163ArgfsTer6(p.E163Rfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000422113 |
| Start |
129700159:129700160(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs747811524
|
| CDS Mutation |
c.618dupC |
| AA Mutation |
p.Thr207HisfsTer29(p.T207Hfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|