| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64615099:64615100(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.983_984insCTTCTTTTCTTCAT |
| AA Mutation |
p.Thr329PhefsTer5(p.T329Ffs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000310193 |
| Start |
64596767:64596768(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1395_1396insGATTTATTTTCTTTC |
| AA Mutation |
p.Ile465_Leu466insAspLeuPheSerPhe(p.I465_L466insDLFSF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP7B1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64615154:64615154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201867790
|
| CDS Mutation |
c.929G>A |
| AA Mutation |
p.Arg310Gln(p.R310Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64615721:64615721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.820T>A |
| AA Mutation |
p.Tyr274Asn(p.Y274N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64615722:64615722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.819A>T |
| AA Mutation |
p.Lys273Asn(p.K273N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64615879:64615879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.662A>G |
| AA Mutation |
p.Asp221Gly(p.D221G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64596835:64596835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1328G>T |
| AA Mutation |
p.Gly443Val(p.G443V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310193 |
| Start |
64596732:64596732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1431T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|