| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57661455:57661456(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2425dupA |
| AA Mutation |
p.Ile809AsnfsTer11(p.I809Nfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57697807:57697808(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs761784230
|
| CDS Mutation |
c.614dupA |
| AA Mutation |
p.Asn205LysfsTer2(p.N205Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP8B1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57694622:57694622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.989G>A |
| AA Mutation |
p.Arg330Lys(p.R330K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57652061:57652061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3373C>A |
| AA Mutation |
p.Leu1125Ile(p.L1125I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57694616:57694616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.995A>T |
| AA Mutation |
p.Lys332Ile(p.K332I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57695201:57695201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372749108
|
| CDS Mutation |
c.910G>A |
| AA Mutation |
p.Asp304Asn(p.D304N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000283684 |
| Start |
57671509:57671509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775370485
|
| CDS Mutation |
c.1891C>T |
| AA Mutation |
p.Arg631Ter(p.R631*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000283684 |
| Start |
57650408:57650408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369054652
|
| CDS Mutation |
c.3490C>T |
| AA Mutation |
p.Arg1164Ter(p.R1164*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000283684 |
| Start |
57650361:57650370(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3528_3531+6delTAAGGTATAA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|