| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165372:126165372(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.553delC |
| AA Mutation |
p.Leu185CysfsTer19(p.L185Cfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126164580:126164581(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs781474338
|
| CDS Mutation |
c.1344dupG |
| AA Mutation |
p.Pro449AlafsTer?(p.P449Afs*?) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DCAF12L2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165516:126165516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765247772
|
| CDS Mutation |
c.409C>T |
| AA Mutation |
p.Arg137Trp(p.R137W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126164924:126164924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1001C>T |
| AA Mutation |
p.Pro334Leu(p.P334L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165530:126165530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769240535
|
| CDS Mutation |
c.395G>A |
| AA Mutation |
p.Arg132His(p.R132H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165008:126165008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.917G>T |
| AA Mutation |
p.Cys306Phe(p.C306F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165045:126165045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.880A>C |
| AA Mutation |
p.Thr294Pro(p.T294P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165416:126165416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.509A>C |
| AA Mutation |
p.Asn170Thr(p.N170T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165584:126165584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.341G>A |
| AA Mutation |
p.Gly114Asp(p.G114D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165076:126165076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.849C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360028 |
| Start |
126165673:126165673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.252C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360028 |
| Start |
126164665:126164665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1260C>A |
| AA Mutation |
p.Tyr420Ter(p.Y420*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|