| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000305815 |
| Start |
112180596:112180596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2716G>T |
| AA Mutation |
p.Gly906Ter(p.G906*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112278850:112278851(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.196dupA |
| AA Mutation |
p.Arg66LysfsTer29(p.R66Kfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC9C1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112278845:112278845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753209894
|
| CDS Mutation |
c.202G>A |
| AA Mutation |
p.Ala68Thr(p.A68T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112180652:112180652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2660A>G |
| AA Mutation |
p.Lys887Arg(p.K887R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112264323:112264323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201401597
|
| CDS Mutation |
c.899G>A |
| AA Mutation |
p.Arg300His(p.R300H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112240001:112240001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs186081653
|
| CDS Mutation |
c.1285C>T |
| AA Mutation |
p.Arg429Cys(p.R429C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112169024:112169024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3090T>G |
| AA Mutation |
p.Ile1030Met(p.I1030M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112169033:112169033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3081C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305815 |
| Start |
112204329:112204329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2061C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000305815 |
| Start |
112199416:112199416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371139214
|
| CDS Mutation |
c.2428G>T |
| AA Mutation |
p.Glu810Ter(p.E810*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000305815 |
| Start |
112179605:112179605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2845G>T |
| AA Mutation |
p.Glu949Ter(p.E949*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|