| Mutation ID |
22 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65570472:65570472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.41-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65601842:65601842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1286-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LEPR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65609978:65609978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1784C>A |
| AA Mutation |
p.Ser595Tyr(p.S595Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65592742:65592742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.580T>G |
| AA Mutation |
p.Cys194Gly(p.C194G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65616161:65616161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2149A>T |
| AA Mutation |
p.Ile717Phe(p.I717F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65636819:65636819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267598694
|
| CDS Mutation |
c.3302C>T |
| AA Mutation |
p.Ser1101Leu(p.S1101L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65610277:65610277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1976A>G |
| AA Mutation |
p.Asn659Ser(p.N659S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65565569:65565569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4A>G |
| AA Mutation |
p.Ile2Val(p.I2V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65570722:65570722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.290G>T |
| AA Mutation |
p.Arg97Ile(p.R97I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65636570:65636570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745548684
|
| CDS Mutation |
c.3053C>A |
| AA Mutation |
p.Ser1018Tyr(p.S1018Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65636748:65636748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3231C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65636776:65636777(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3268_3269dupAG |
| AA Mutation |
p.Ser1090ArgfsTer6(p.S1090Rfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|