| Mutation ID |
44 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000449082 |
| Start |
38725302:38725302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3100C>T |
| AA Mutation |
p.Gln1034Ter(p.Q1034*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38697670:38697671(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5549_5550insTGATGTGGC |
| AA Mutation |
p.Gln1850delinsHisAspValAla(p.Q1850delinsHDVA) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCN10A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38722325:38722325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375926577
|
| CDS Mutation |
c.3440G>A |
| AA Mutation |
p.Arg1147His(p.R1147H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38726946:38726946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267599804
|
| CDS Mutation |
c.2747G>A |
| AA Mutation |
p.Arg916Gln(p.R916Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38698511:38698511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772484960
|
| CDS Mutation |
c.4709C>T |
| AA Mutation |
p.Thr1570Met(p.T1570M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38698278:38698278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs529861077
|
| CDS Mutation |
c.4942G>A |
| AA Mutation |
p.Ala1648Thr(p.A1648T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38712426:38712426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3824T>C |
| AA Mutation |
p.Val1275Ala(p.V1275A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38726956:38726956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201054824
|
| CDS Mutation |
c.2737G>A |
| AA Mutation |
p.Ala913Thr(p.A913T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38750164:38750164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1776G>T |
| AA Mutation |
p.Lys592Asn(p.K592N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38752433:38752433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1541T>G |
| AA Mutation |
p.Ile514Ser(p.I514S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38793751:38793751(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766047928
|
| CDS Mutation |
c.260G>A |
| AA Mutation |
p.Ser87Asn(p.S87N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38709582:38709582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4177T>C |
| AA Mutation |
p.Tyr1393His(p.Y1393H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38712422:38712422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375572917
|
| CDS Mutation |
c.3828C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38709499:38709499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4260C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38792133:38792133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.306C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38726855:38726855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2838G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38761364:38761364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.711G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000449082 |
| Start |
38697876:38697876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5344C>T |
| AA Mutation |
p.Arg1782Ter(p.R1782*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000449082 |
| Start |
38728726:38728727(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2455_2456insC |
| AA Mutation |
p.Asn819ThrfsTer7(p.N819Tfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|