Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621469:54621469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758260528
CDS Mutation c.503G>A
AA Mutation p.Arg168His(p.R168H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626104:54626104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2222A>C
AA Mutation p.Asn741Thr(p.N741T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629614:54629614(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748816095
CDS Mutation c.5732A>G
AA Mutation p.Tyr1911Cys(p.Y1911C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54625100:54625100(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1218G>T
AA Mutation p.Glu406Asp(p.E406D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54625741:54625741(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1859C>A
AA Mutation p.Ser620Tyr(p.S620Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629950:54629950(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6068A>C
AA Mutation p.Lys2023Thr(p.K2023T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54630342:54630342(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6460G>A
AA Mutation p.Glu2154Lys(p.E2154K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54625550:54625550(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1668G>T
AA Mutation p.Lys556Asn(p.K556N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54622131:54622131(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.630G>T
AA Mutation p.Gln210His(p.Q210H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54630280:54630280(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6398T>G
AA Mutation p.Leu2133Arg(p.L2133R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621010:54621010(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758050819
CDS Mutation c.44C>T
AA Mutation p.Thr15Met(p.T15M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626032:54626032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2150C>T
AA Mutation p.Ser717Leu(p.S717L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621246:54621246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.280C>T
AA Mutation p.Arg94Cys(p.R94C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628299:54628299(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4417A>T
AA Mutation p.Asn1473Tyr(p.N1473Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621166:54621166(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.200T>C
AA Mutation p.Leu67Pro(p.L67P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621390:54621390(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367600337
CDS Mutation c.424G>A
AA Mutation p.Val142Ile(p.V142I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628210:54628210(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759930573
CDS Mutation c.4328G>A
AA Mutation p.Arg1443Gln(p.R1443Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629481:54629481(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5599G>A
AA Mutation p.Val1867Ile(p.V1867I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54630043:54630043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6161T>C
AA Mutation p.Leu2054Pro(p.L2054P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54622169:54622169(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.668G>T
AA Mutation p.Gly223Val(p.G223V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621577:54621577(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.611G>T
AA Mutation p.Arg204Met(p.R204M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628035:54628035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4153A>C
AA Mutation p.Asn1385His(p.N1385H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621397:54621397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.431T>C
AA Mutation p.Val144Ala(p.V144A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629152:54629152(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5270C>T
AA Mutation p.Ser1757Leu(p.S1757L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628023:54628023(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777613936
CDS Mutation c.4141A>G
AA Mutation p.Lys1381Glu(p.K1381E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626158:54626158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2276G>T
AA Mutation p.Arg759Ile(p.R759I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628587:54628587(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4705A>C
AA Mutation p.Thr1569Pro(p.T1569P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54630345:54630345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6463G>T
AA Mutation p.Asp2155Tyr(p.D2155Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621225:54621225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.259C>T
AA Mutation p.Arg87Trp(p.R87W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629570:54629570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5688G>A
AA Mutation p.Met1896Ile(p.M1896I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621076:54621076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.110G>A
AA Mutation p.Arg37Gln(p.R37Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628179:54628179(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4297G>A
AA Mutation p.Ala1433Thr(p.A1433T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629782:54629782(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5900T>C
AA Mutation p.Phe1967Ser(p.F1967S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629028:54629028(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5146G>A
AA Mutation p.Gly1716Ser(p.G1716S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621516:54621516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.550C>A
AA Mutation p.Leu184Ile(p.L184I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628056:54628056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4174A>G
AA Mutation p.Asn1392Asp(p.N1392D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54630039:54630039(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6157G>C
AA Mutation p.Asp2053His(p.D2053H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54625228:54625228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1346C>A
AA Mutation p.Pro449His(p.P449H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628227:54628227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4345G>T
AA Mutation p.Gly1449Cys(p.G1449C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628228:54628228(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4346G>T
AA Mutation p.Gly1449Val(p.G1449V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621418:54621418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.452G>A
AA Mutation p.Arg151His(p.R151H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54622164:54622164(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745452078
CDS Mutation c.663G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54626393:54626393(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753558619
CDS Mutation c.2511A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54628700:54628700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4818A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54621110:54621110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.144C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54624851:54624851(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.969T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54622248:54622248(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.747T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54628724:54628724(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4842T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54625124:54625124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1242T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54626471:54626471(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2589C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54624866:54624866(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776574526
CDS Mutation c.984C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54621569:54621569(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.603G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54625916:54625916(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752997377
CDS Mutation c.2034G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54621113:54621113(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571521776
CDS Mutation c.147C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54627719:54627719(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3843delT
AA Mutation p.Pro1282LeufsTer12(p.P1282Lfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54626253:54626253(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2377delA
AA Mutation p.Arg793GlufsTer55(p.R793Efs*55)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54629369:54629369(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5490delT
AA Mutation p.His1831MetfsTer17(p.H1831Mfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54628619:54628619(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4743delA
AA Mutation p.Lys1581AsnfsTer7(p.K1581Nfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54621419:54621419(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.458delC
AA Mutation p.Pro153HisfsTer4(p.P153Hfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54625724:54625724(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1846delT
AA Mutation p.Ser616GlnfsTer30(p.S616Qfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54628817:54628817(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4941delT
AA Mutation p.Pro1648LeufsTer62(p.P1648Lfs*62)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54622205:54622205(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.708delA
AA Mutation p.Lys236AsnfsTer28(p.K236Nfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000220676
Start 54627214:54627214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3332C>A
AA Mutation p.Ser1111Ter(p.S1111*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained
Transcription ID ENST00000220676
Start 54629130:54629130(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5248G>T
AA Mutation p.Glu1750Ter(p.E1750*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000220676
Start 54629277:54629277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5395G>T
AA Mutation p.Glu1799Ter(p.E1799*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000220676
Start 54629679:54629679(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs118031911
CDS Mutation c.5797C>T
AA Mutation p.Arg1933Ter(p.R1933*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54625226:54625227(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1349dupC
AA Mutation p.Thr451TyrfsTer22(p.T451Yfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54627825:54627826(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3943_3944insATTTACA
AA Mutation p.Cys1315TyrfsTer12(p.C1315Yfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54628358:54628359(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4476_4477insGTCCGTGG
AA Mutation p.Leu1493ValfsTer4(p.L1493Vfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54626576:54626577(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2700dupA
AA Mutation p.Pro901ThrfsTer2(p.P901Tfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> RP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628728:54628728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4846G>A
AA Mutation p.Glu1616Lys(p.E1616K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626098:54626098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2216A>G
AA Mutation p.Glu739Gly(p.E739G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621517:54621517(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.551T>C
AA Mutation p.Leu184Pro(p.L184P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626551:54626551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2669C>T
AA Mutation p.Thr890Ile(p.T890I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629795:54629795(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5913C>A
AA Mutation p.Asn1971Lys(p.N1971K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54627270:54627270(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3388C>G
AA Mutation p.Leu1130Val(p.L1130V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628480:54628480(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4598C>A
AA Mutation p.Ala1533Glu(p.A1533E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54624786:54624786(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.904T>G
AA Mutation p.Leu302Val(p.L302V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626158:54626158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2276G>T
AA Mutation p.Arg759Ile(p.R759I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54627334:54627334(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3452A>T
AA Mutation p.His1151Leu(p.H1151L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626709:54626709(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2827A>G
AA Mutation p.Ser943Gly(p.S943G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621509:54621509(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.543G>T
AA Mutation p.Glu181Asp(p.E181D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626976:54626976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3094A>G
AA Mutation p.Asn1032Asp(p.N1032D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54628359:54628359(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4477T>A
AA Mutation p.Leu1493Ile(p.L1493I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54629071:54629071(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5189G>T
AA Mutation p.Arg1730Ile(p.R1730I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54621478:54621478(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.512T>G
AA Mutation p.Leu171Arg(p.L171R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54625989:54625989(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2107A>C
AA Mutation p.Asn703His(p.N703H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626212:54626212(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2330G>T
AA Mutation p.Arg777Ile(p.R777I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000220676
Start 54626550:54626550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2668A>G
AA Mutation p.Thr890Ala(p.T890A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000220676
Start 54625847:54625847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777274251
CDS Mutation c.1965A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000220676
Start 54624789:54624789(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.907G>T
AA Mutation p.Glu303Ter(p.E303*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000220676
Start 54629040:54629040(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370860489
CDS Mutation c.5158G>T
AA Mutation p.Glu1720Ter(p.E1720*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000220676
Start 54625751:54625752(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1874dupA
AA Mutation p.Asn625LysfsTer4(p.N625Kfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript