| Mutation ID |
22 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130762052:130762052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-19-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000321420 |
| Start |
130762628:130762633(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556_561delTCCCCA |
| AA Mutation |
p.Ser186_Pro187del(p.S186_P187del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMER3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130762571:130762571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.499C>T |
| AA Mutation |
p.Arg167Trp(p.R167W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130763342:130763342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767006055
|
| CDS Mutation |
c.1270G>A |
| AA Mutation |
p.Glu424Lys(p.E424K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130762733:130762733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766270630
|
| CDS Mutation |
c.661G>A |
| AA Mutation |
p.Glu221Lys(p.E221K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130762599:130762599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139544644
|
| CDS Mutation |
c.527C>T |
| AA Mutation |
p.Ser176Leu(p.S176L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130763247:130763247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774553121
|
| CDS Mutation |
c.1175C>T |
| AA Mutation |
p.Ser392Leu(p.S392L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130762282:130762282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376219909
|
| CDS Mutation |
c.210G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321420 |
| Start |
130764058:130764058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142277390
|
| CDS Mutation |
c.1986C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|