| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196977713:196977713(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.53delG |
| AA Mutation |
p.Gly18GlufsTer53(p.G18Efs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256785 |
| Start |
197008636:197008636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780410370
|
| CDS Mutation |
c.1663C>T |
| AA Mutation |
p.Arg555Ter(p.R555*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CFHR5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196982906:196982906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.80A>G |
| AA Mutation |
p.Lys27Arg(p.K27R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196995823:196995823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.714T>A |
| AA Mutation |
p.Asn238Lys(p.N238K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196982973:196982973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.147A>C |
| AA Mutation |
p.Glu49Asp(p.E49D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196983046:196983046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.220G>A |
| AA Mutation |
p.Glu74Lys(p.E74K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196994245:196994245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.596C>A |
| AA Mutation |
p.Pro199Gln(p.P199Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256785 |
| Start |
196994237:196994237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.588T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256785 |
| Start |
196984098:196984098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.391G>T |
| AA Mutation |
p.Glu131Ter(p.E131*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|