| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96781837:96781838(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2302_2303insATTTC |
| AA Mutation |
p.Thr768AsnfsTer53(p.T768Nfs*53) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000443439 |
| Start |
96800988:96800989(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.536_537insCTATAGAAA |
| AA Mutation |
p.Ser179_Thr180insTyrArgLys(p.S179_T180insYRK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERAP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96785842:96785842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1889C>T |
| AA Mutation |
p.Ala630Val(p.A630V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96795116:96795116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.845C>T |
| AA Mutation |
p.Ala282Val(p.A282V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96797257:96797257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.716C>T |
| AA Mutation |
p.Thr239Ile(p.T239I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96783079:96783079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2257A>C |
| AA Mutation |
p.Lys753Gln(p.K753Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96785914:96785914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1817G>T |
| AA Mutation |
p.Gly606Val(p.G606V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96790598:96790598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150674566
|
| CDS Mutation |
c.1366G>A |
| AA Mutation |
p.Ala456Thr(p.A456T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000443439 |
| Start |
96784029:96784029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1995A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000443439 |
| Start |
96784045:96784045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1979T>A |
| AA Mutation |
p.Leu660Ter(p.L660*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000443439 |
| Start |
96800946:96800946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.579C>A |
| AA Mutation |
p.Cys193Ter(p.C193*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|