| Mutation ID |
46 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45985295:45985295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1720+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
47 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000242848 |
| Start |
45959533:45959535(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4784_4786delTGT |
| AA Mutation |
p.Leu1595del(p.L1595del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZC3H13
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45968026:45968026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753611810
|
| CDS Mutation |
c.3799C>T |
| AA Mutation |
p.Arg1267Cys(p.R1267C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45975448:45975448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2303G>T |
| AA Mutation |
p.Arg768Leu(p.R768L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45975685:45975685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749159735
|
| CDS Mutation |
c.2066G>A |
| AA Mutation |
p.Arg689Gln(p.R689Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45967989:45967989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3836C>A |
| AA Mutation |
p.Ser1279Tyr(p.S1279Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45968958:45968958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3586C>T |
| AA Mutation |
p.Arg1196Trp(p.R1196W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45988835:45988835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1207C>A |
| AA Mutation |
p.His403Asn(p.H403N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242848 |
| Start |
45985659:45985659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1358G>A |
| AA Mutation |
p.Arg453Gln(p.R453Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000242848 |
| Start |
45967816:45967816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4009C>T |
| AA Mutation |
p.Arg1337Ter(p.R1337*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000242848 |
| Start |
45985342:45985342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1675C>T |
| AA Mutation |
p.Arg559Ter(p.R559*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000242848 |
| Start |
45967975:45967975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3850C>T |
| AA Mutation |
p.Arg1284Ter(p.R1284*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000242848 |
| Start |
45968763:45968763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3781C>T |
| AA Mutation |
p.Arg1261Ter(p.R1261*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|