| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134935753:134935754(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1380dupA |
| AA Mutation |
p.Glu461ArgfsTer6(p.E461Rfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000361675 |
| Start |
134867734:134867734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1A>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CALD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134941183:134941183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201681214
|
| CDS Mutation |
c.1478C>T |
| AA Mutation |
p.Ser493Leu(p.S493L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134928833:134928833(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.151C>T |
| AA Mutation |
p.Arg51Trp(p.R51W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134933104:134933104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.335A>G |
| AA Mutation |
p.Gln112Arg(p.Q112R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134941148:134941148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1443C>A |
| AA Mutation |
p.Phe481Leu(p.F481L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134960106:134960106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2194A>C |
| AA Mutation |
p.Asn732His(p.N732H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134947628:134947628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757030162
|
| CDS Mutation |
c.1653C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134934071:134934071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1302G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134933226:134933227(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.458dupG |
| AA Mutation |
p.Ser153ArgfsTer2(p.S153Rfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134933951:134933952(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1188dupA |
| AA Mutation |
p.His397ThrfsTer24(p.H397Tfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000361675 |
| Start |
134928901:134928901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.218+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|