| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50353830:50353831(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3001dupA |
| AA Mutation |
p.Met1001AsnfsTer25(p.M1001Nfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000327337 |
| Start |
50352862:50352863(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3969_3970insAGA |
| AA Mutation |
p.Leu1323_Gly1324insArg(p.L1323_G1324insR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FAM186A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50363288:50363288(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.269C>T |
| AA Mutation |
p.Ser90Leu(p.S90L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50353101:50353101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3731C>T |
| AA Mutation |
p.Thr1244Ile(p.T1244I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50350537:50350537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6295G>A |
| AA Mutation |
p.Glu2099Lys(p.E2099K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50353849:50353849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2983C>T |
| AA Mutation |
p.Pro995Ser(p.P995S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50354450:50354450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2382G>T |
| AA Mutation |
p.Met794Ile(p.M794I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50355732:50355732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1100T>C |
| AA Mutation |
p.Val367Ala(p.V367A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50351399:50351399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5433G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000327337 |
| Start |
50354038:50354038(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2794delA |
| AA Mutation |
p.Met932Ter(p.M932*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000327337 |
| Start |
50354713:50354713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2119G>T |
| AA Mutation |
p.Glu707Ter(p.E707*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|