Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DNAH8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38982388:38982388(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773290369
CDS Mutation c.12226G>A
AA Mutation p.Glu4076Lys(p.E4076K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38894716:38894716(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7948A>T
AA Mutation p.Thr2650Ser(p.T2650S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38857573:38857573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758923038
CDS Mutation c.5138G>A
AA Mutation p.Arg1713His(p.R1713H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38866635:38866635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5892A>C
AA Mutation p.Lys1964Asn(p.K1964N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38890655:38890655(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7826T>G
AA Mutation p.Ile2609Ser(p.I2609S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38931869:38931869(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373025624
CDS Mutation c.10682C>T
AA Mutation p.Thr3561Met(p.T3561M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38863974:38863974(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751582101
CDS Mutation c.5761G>A
AA Mutation p.Ala1921Thr(p.A1921T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38974524:38974524(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12178G>A
AA Mutation p.Val4060Met(p.V4060M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38823020:38823020(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201420305
CDS Mutation c.3055G>A
AA Mutation p.Asp1019Asn(p.D1019N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38842667:38842667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs78877915
CDS Mutation c.3958C>T
AA Mutation p.Arg1320Cys(p.R1320C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38850324:38850324(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4622T>C
AA Mutation p.Val1541Ala(p.V1541A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38863891:38863891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5678C>T
AA Mutation p.Ser1893Phe(p.S1893F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38935629:38935629(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10844T>C
AA Mutation p.Val3615Ala(p.V3615A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38990034:38990034(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12425T>G
AA Mutation p.Phe4142Cys(p.F4142C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38883442:38883442(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7471C>A
AA Mutation p.Pro2491Thr(p.P2491T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38873252:38873252(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6845G>A
AA Mutation p.Arg2282His(p.R2282H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39012474:39012474(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12900G>A
AA Mutation p.Met4300Ile(p.M4300I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38852715:38852715(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4837G>T
AA Mutation p.Asp1613Tyr(p.D1613Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38852716:38852716(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4838A>T
AA Mutation p.Asp1613Val(p.D1613V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38911575:38911575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540958336
CDS Mutation c.9197G>A
AA Mutation p.Arg3066His(p.R3066H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38783029:38783029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199804814
CDS Mutation c.1634C>T
AA Mutation p.Pro545Leu(p.P545L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38853330:38853330(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5065A>G
AA Mutation p.Ser1689Gly(p.S1689G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38938123:38938123(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11062G>A
AA Mutation p.Gly3688Arg(p.G3688R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38837987:38837987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3760G>A
AA Mutation p.Gly1254Ser(p.G1254S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38923083:38923083(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10037G>A
AA Mutation p.Cys3346Tyr(p.C3346Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38911473:38911473(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9095G>A
AA Mutation p.Arg3032His(p.R3032H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38923086:38923086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772835642
CDS Mutation c.10040G>A
AA Mutation p.Arg3347Gln(p.R3347Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38917937:38917937(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9670A>T
AA Mutation p.Thr3224Ser(p.T3224S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38873014:38873014(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6695G>A
AA Mutation p.Arg2232His(p.R2232H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38974413:38974413(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569195029
CDS Mutation c.12067C>T
AA Mutation p.Arg4023Cys(p.R4023C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38832424:38832424(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3640G>A
AA Mutation p.Ala1214Thr(p.A1214T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38883018:38883018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7316A>T
AA Mutation p.Asn2439Ile(p.N2439I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38822993:38822993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3028T>C
AA Mutation p.Tyr1010His(p.Y1010H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39012285:39012285(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12791G>C
AA Mutation p.Arg4264Thr(p.R4264T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38755982:38755982(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.767C>T
AA Mutation p.Ala256Val(p.A256V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38845706:38845706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142959082
CDS Mutation c.4327G>A
AA Mutation p.Glu1443Lys(p.E1443K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38886810:38886810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543347999
CDS Mutation c.7628G>A
AA Mutation p.Arg2543Gln(p.R2543Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38842773:38842773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4064A>G
AA Mutation p.Lys1355Arg(p.K1355R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38915263:38915263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9375G>T
AA Mutation p.Glu3125Asp(p.E3125D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38775820:38775820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1180G>T
AA Mutation p.Asp394Tyr(p.D394Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38857621:38857621(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5186T>G
AA Mutation p.Phe1729Cys(p.F1729C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38873089:38873089(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6770C>A
AA Mutation p.Ser2257Tyr(p.S2257Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38875669:38875669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7048T>G
AA Mutation p.Phe2350Val(p.F2350V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38886999:38886999(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7817T>G
AA Mutation p.Ile2606Ser(p.I2606S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38906370:38906370(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8660T>A
AA Mutation p.Phe2887Tyr(p.F2887Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38921474:38921474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9979G>A
AA Mutation p.Ala3327Thr(p.A3327T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38926205:38926205(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10462T>G
AA Mutation p.Leu3488Val(p.L3488V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38931937:38931937(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772782911
CDS Mutation c.10750A>G
AA Mutation p.Thr3584Ala(p.T3584A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38938980:38938980(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11348T>G
AA Mutation p.Leu3783Arg(p.L3783R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39012581:39012581(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13007G>T
AA Mutation p.Trp4336Leu(p.W4336L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38845755:38845755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4376G>A
AA Mutation p.Gly1459Glu(p.G1459E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38789872:38789872(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2002A>C
AA Mutation p.Lys668Gln(p.K668Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38803251:38803251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2323A>G
AA Mutation p.Ile775Val(p.I775V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38828263:38828263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3512C>A
AA Mutation p.Ser1171Tyr(p.S1171Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38848778:38848778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4525G>A
AA Mutation p.Asp1509Asn(p.D1509N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38852792:38852792(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4914A>C
AA Mutation p.Lys1638Asn(p.K1638N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38872671:38872671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6475C>T
AA Mutation p.Pro2159Ser(p.P2159S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38883940:38883940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7550A>C
AA Mutation p.Lys2517Thr(p.K2517T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38894729:38894729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7961T>G
AA Mutation p.Phe2654Cys(p.F2654C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38926134:38926134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10391G>A
AA Mutation p.Arg3464Lys(p.R3464K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38931866:38931866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10679C>A
AA Mutation p.Thr3560Asn(p.T3560N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38990015:38990015(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12406T>C
AA Mutation p.Trp4136Arg(p.W4136R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38734588:38734588(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142863013
CDS Mutation c.74G>A
AA Mutation p.Arg25His(p.R25H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38852758:38852758(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4880G>A
AA Mutation p.Arg1627His(p.R1627H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38863991:38863991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5778G>T
AA Mutation p.Lys1926Asn(p.K1926N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38982451:38982451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761567737
CDS Mutation c.12289G>A
AA Mutation p.Asp4097Asn(p.D4097N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38786945:38786945(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1925A>T
AA Mutation p.Tyr642Phe(p.Y642F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38842668:38842668(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375507271
CDS Mutation c.3959G>A
AA Mutation p.Arg1320His(p.R1320H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38780022:38780022(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141983502
CDS Mutation c.1445G>A
AA Mutation p.Arg482His(p.R482H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38851628:38851628(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4769T>G
AA Mutation p.Val1590Gly(p.V1590G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38860544:38860544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5395G>T
AA Mutation p.Val1799Leu(p.V1799L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38866867:38866867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6033T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38786823:38786823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761076754
CDS Mutation c.1803C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38790375:38790375(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2100T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38923072:38923072(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770691922
CDS Mutation c.10026C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 39030206:39030206(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13287A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38834626:38834626(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3699G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 78
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38949457:38949457(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11484T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38866656:38866656(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5913T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 80
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38982387:38982387(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772259392
CDS Mutation c.12225C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 81
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38852741:38852741(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4863T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 82
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38845609:38845609(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200549336
CDS Mutation c.4230C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 83
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38786947:38786947(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1927T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 84
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38853236:38853236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4971T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38807662:38807662(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2556delA
AA Mutation p.Ala853LeufsTer9(p.A853Lfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38918048:38918048(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.9786delA
AA Mutation p.Val3263SerfsTer28(p.V3263Sfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 87
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38864002:38864002(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5794delT
AA Mutation p.Ser1932LeufsTer8(p.S1932Lfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 88
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38926073:38926073(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10330delC
AA Mutation p.Gln3444ArgfsTer16(p.Q3444Rfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 89
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38872741:38872741(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6550delT
AA Mutation p.Ser2184LeufsTer8(p.S2184Lfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38886999:38886999(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs759301439
CDS Mutation c.7821delT
AA Mutation p.Phe2607LeufsTer22(p.F2607Lfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 91
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38899865:38899865(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8505delT
AA Mutation p.Phe2835LeufsTer10(p.F2835Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 92
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38734560:38734560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46G>T
AA Mutation p.Gly16Ter(p.G16*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38853227:38853227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4962G>A
AA Mutation p.Trp1654Ter(p.W1654*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38786788:38786788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs567050969
CDS Mutation c.1768C>T
AA Mutation p.Arg590Ter(p.R590*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38805540:38805540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2443G>T
AA Mutation p.Glu815Ter(p.E815*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38822849:38822849(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2884G>T
AA Mutation p.Glu962Ter(p.E962*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38834612:38834612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3685G>T
AA Mutation p.Glu1229Ter(p.E1229*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38842372:38842372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3820G>T
AA Mutation p.Glu1274Ter(p.E1274*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 39030291:39030291(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13372C>T
AA Mutation p.Arg4458Ter(p.R4458*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38973712:38973712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11926G>T
AA Mutation p.Glu3976Ter(p.E3976*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 39030327:39030327(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146551804
CDS Mutation c.13408C>T
AA Mutation p.Arg4470Ter(p.R4470*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38973790:38973790(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747309695
CDS Mutation c.12004C>T
AA Mutation p.Arg4002Ter(p.R4002*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38862283:38862283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5484C>A
AA Mutation p.Cys1828Ter(p.C1828*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000359357
Start 38832392:38832393(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3608_3609insAACATATTAAAAACAAAAA
AA Mutation p.Phe1204ThrfsTer3(p.F1204Tfs*3)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38842701:38842702(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3998dupT
AA Mutation p.Leu1333PhefsTer8(p.L1333Ffs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 106
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38848663:38848664(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4418dupA
AA Mutation p.Asn1473LysfsTer8(p.N1473Kfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 107
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38918047:38918048(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9786dupA
AA Mutation p.Val3263SerfsTer23(p.V3263Sfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 108
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 39008929:39008930(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12679_12680insCAGTGTT
AA Mutation p.Asp4227AlafsTer7(p.D4227Afs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 109
Mutation Consequence inframe_deletion
Transcription ID ENST00000359357
Start 38926084:38926086(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.10343_10345delGAG
AA Mutation p.Gly3448del(p.G3448del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 110
Mutation Consequence inframe_deletion
Transcription ID ENST00000359357
Start 38741787:38741789(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.542_544delGCA
AA Mutation p.Arg181_Met182delinsLeu(p.R181_M182delinsL)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> DNAH8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38886996:38886996(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7814A>C
AA Mutation p.Lys2605Thr(p.K2605T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38896221:38896221(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8285A>C
AA Mutation p.Glu2762Ala(p.E2762A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38974516:38974516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12170A>G
AA Mutation p.His4057Arg(p.H4057R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38971637:38971637(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770628767
CDS Mutation c.11846G>A
AA Mutation p.Arg3949Gln(p.R3949Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38737925:38737925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.418C>T
AA Mutation p.His140Tyr(p.H140Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359357
Start 38737068:38737068(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.113A>G
AA Mutation p.Glu38Gly(p.E38G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38886867:38886867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7685C>T
AA Mutation p.Thr2562Ile(p.T2562I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38826227:38826227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3268G>A
AA Mutation p.Glu1090Lys(p.E1090K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38842892:38842892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4183G>T
AA Mutation p.Asp1395Tyr(p.D1395Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38921468:38921468(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9973G>T
AA Mutation p.Val3325Leu(p.V3325L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38770549:38770549(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1103G>T
AA Mutation p.Arg368Ile(p.R368I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38807707:38807707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2597T>G
AA Mutation p.Phe866Cys(p.F866C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38872958:38872958(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6639G>T
AA Mutation p.Glu2213Asp(p.E2213D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38982388:38982388(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773290369
CDS Mutation c.12226G>A
AA Mutation p.Glu4076Lys(p.E4076K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39008927:39008927(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12677A>C
AA Mutation p.Glu4226Ala(p.E4226A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38875629:38875629(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7008A>C
AA Mutation p.Glu2336Asp(p.E2336D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38899792:38899792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771436783
CDS Mutation c.8429G>A
AA Mutation p.Arg2810Gln(p.R2810Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359357
Start 38913950:38913950(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200884766
CDS Mutation c.9310G>A
AA Mutation p.Glu3104Lys(p.E3104K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39012624:39012624(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13050C>A
AA Mutation p.Phe4350Leu(p.F4350L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38737096:38737096(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757017716
CDS Mutation c.141G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38761779:38761779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.942G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38872613:38872613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6417G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38872640:38872640(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777410917
CDS Mutation c.6444C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38786823:38786823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761076754
CDS Mutation c.1803C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38790366:38790366(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748253698
CDS Mutation c.2091C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38873352:38873352(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6945C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38898320:38898320(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8352C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38990143:38990143(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12534C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 39012275:39012275(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12781G>T
AA Mutation p.Glu4261Ter(p.E4261*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38864037:38864037(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5824G>T
AA Mutation p.Glu1942Ter(p.E1942*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38971636:38971636(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150428096
CDS Mutation c.11845C>T
AA Mutation p.Arg3949Ter(p.R3949*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence inframe_deletion
Transcription ID ENST00000359357
Start 38770460:38770462(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1014_1016delAAG
AA Mutation p.Arg339del(p.R339del)
Mutation Classification In_Frame_Del
Feature Type Transcript