| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4057189:4057189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2733+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000337659 |
| Start |
4043895:4043897(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1735_1737delCCA |
| AA Mutation |
p.Pro579del(p.P579del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRPF4B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4031795:4031795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.278C>A |
| AA Mutation |
p.Ser93Tyr(p.S93Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4031926:4031926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149525756
|
| CDS Mutation |
c.409T>G |
| AA Mutation |
p.Leu137Val(p.L137V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4037567:4037567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1409G>T |
| AA Mutation |
p.Arg470Ile(p.R470I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4040816:4040816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1457G>A |
| AA Mutation |
p.Arg486Gln(p.R486Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4057112:4057112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2658A>C |
| AA Mutation |
p.Lys886Asn(p.K886N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337659 |
| Start |
4031903:4031903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.386T>C |
| AA Mutation |
p.Val129Ala(p.V129A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337659 |
| Start |
4058734:4058734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2740C>T |
| AA Mutation |
p.Arg914Ter(p.R914*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|