| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52492794:52492794(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.395delC |
| AA Mutation |
p.Pro132LeufsTer14(p.P132Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330722 |
| Start |
52492693:52492693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.496C>T |
| AA Mutation |
p.Gln166Ter(p.Q166*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KRT6A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52487944:52487944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1471T>C |
| AA Mutation |
p.Ser491Pro(p.S491P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52488075:52488075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1453A>G |
| AA Mutation |
p.Asn485Asp(p.N485D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52493143:52493143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767267061
|
| CDS Mutation |
c.46C>T |
| AA Mutation |
p.Arg16Trp(p.R16W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52493145:52493145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs533157590
|
| CDS Mutation |
c.44G>T |
| AA Mutation |
p.Arg15Leu(p.R15L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52493100:52493100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.89G>A |
| AA Mutation |
p.Arg30His(p.R30H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52487936:52487936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1479C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52487849:52487849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756818131
|
| CDS Mutation |
c.1566C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52488094:52488094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768734860
|
| CDS Mutation |
c.1434C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330722 |
| Start |
52490896:52490896(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.874delA |
| AA Mutation |
p.Thr292GlnfsTer7(p.T292Qfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|