| Mutation ID |
30 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8776894:8776894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2704-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000256707 |
| Start |
8731821:8731822(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4214_4215insATCTCCCCTCTT |
| AA Mutation |
p.Thr1405_Ile1406insSerProLeuPhe(p.T1405_I1406insSPLF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIDINS220
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8730725:8730725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5311C>T |
| AA Mutation |
p.Leu1771Phe(p.L1771F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8785823:8785823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2147A>G |
| AA Mutation |
p.Asp716Gly(p.D716G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8731554:8731554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4482G>T |
| AA Mutation |
p.Lys1494Asn(p.K1494N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8827021:8827021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.73C>A |
| AA Mutation |
p.Leu25Ile(p.L25I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8817687:8817687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181968246
|
| CDS Mutation |
c.237G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8731305:8731305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4731C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8818746:8818746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.156A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256707 |
| Start |
8731632:8731632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs77234849
|
| CDS Mutation |
c.4404C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256707 |
| Start |
8791181:8791181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1320T>G |
| AA Mutation |
p.Tyr440Ter(p.Y440*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|