Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MUC17

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041114:101041114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201766687
CDS Mutation c.9698C>T
AA Mutation p.Pro3233Leu(p.P3233L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101038885:101038885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7469C>A
AA Mutation p.Ser2490Tyr(p.S2490Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101058007:101058007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs9656065
CDS Mutation c.13445G>A
AA Mutation p.Arg4482Gln(p.R4482Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101043117:101043117(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11701G>A
AA Mutation p.Asp3901Asn(p.D3901N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101035321:101035321(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3905C>A
AA Mutation p.Pro1302His(p.P1302H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041113:101041113(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9697C>T
AA Mutation p.Pro3233Ser(p.P3233S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101038375:101038375(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6959C>A
AA Mutation p.Pro2320His(p.P2320H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101043145:101043145(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11729C>G
AA Mutation p.Thr3910Ser(p.T3910S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101036022:101036022(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4606A>G
AA Mutation p.Thr1536Ala(p.T1536A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101037975:101037975(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6559G>C
AA Mutation p.Asp2187His(p.D2187H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101032972:101032972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1556G>A
AA Mutation p.Ser519Asn(p.S519N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101037419:101037419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6003G>T
AA Mutation p.Glu2001Asp(p.E2001D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101035462:101035462(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4046T>C
AA Mutation p.Val1349Ala(p.V1349A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041504:101041504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10088C>A
AA Mutation p.Thr3363Asn(p.T3363N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101034217:101034217(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768790311
CDS Mutation c.2801C>T
AA Mutation p.Thr934Met(p.T934M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101038440:101038440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7024C>T
AA Mutation p.Arg2342Cys(p.R2342C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101043286:101043286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11870C>T
AA Mutation p.Thr3957Ile(p.T3957I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101043108:101043108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11692C>G
AA Mutation p.Pro3898Ala(p.P3898A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101032666:101032666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1250C>A
AA Mutation p.Pro417His(p.P417H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101038816:101038816(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138703892
CDS Mutation c.7400C>T
AA Mutation p.Pro2467Leu(p.P2467L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101036094:101036094(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371133077
CDS Mutation c.4678G>A
AA Mutation p.Gly1560Ser(p.G1560S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101039019:101039019(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7603C>T
AA Mutation p.Leu2535Phe(p.L2535F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101035237:101035237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3821G>C
AA Mutation p.Ser1274Thr(p.S1274T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101036697:101036697(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5281G>A
AA Mutation p.Val1761Ile(p.V1761I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101043744:101043744(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12328A>G
AA Mutation p.Thr4110Ala(p.T4110A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041012:101041012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9596C>G
AA Mutation p.Thr3199Ser(p.T3199S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101043661:101043661(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs552714025
CDS Mutation c.12245C>T
AA Mutation p.Thr4082Met(p.T4082M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101050510:101050510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12749A>G
AA Mutation p.Asp4250Gly(p.D4250G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101040513:101040513(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753938085
CDS Mutation c.9097G>A
AA Mutation p.Gly3033Ser(p.G3033S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101036501:101036501(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772144437
CDS Mutation c.5085A>G
AA Mutation p.Ile1695Met(p.I1695M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101042976:101042976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11560T>A
AA Mutation p.Ser3854Thr(p.S3854T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101053015:101053015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13133G>C
AA Mutation p.Ser4378Thr(p.S4378T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041158:101041158(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9742G>A
AA Mutation p.Asp3248Asn(p.D3248N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101042081:101042081(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10665T>G
AA Mutation p.Ser3555Arg(p.S3555R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101042620:101042620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11204C>A
AA Mutation p.Ser3735Tyr(p.S3735Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101038684:101038684(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138402996
CDS Mutation c.7268A>G
AA Mutation p.Asp2423Gly(p.D2423G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101034930:101034930(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3514G>C
AA Mutation p.Val1172Leu(p.V1172L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101037099:101037099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5683A>G
AA Mutation p.Ser1895Gly(p.S1895G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101031694:101031694(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776605605
CDS Mutation c.278C>T
AA Mutation p.Ser93Leu(p.S93L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101042860:101042860(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11444T>C
AA Mutation p.Leu3815Ser(p.L3815S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101034180:101034180(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761045482
CDS Mutation c.2764G>A
AA Mutation p.Gly922Arg(p.G922R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101053391:101053391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13318C>T
AA Mutation p.Pro4440Ser(p.P4440S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101034672:101034672(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3256G>T
AA Mutation p.Ala1086Ser(p.A1086S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041642:101041642(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150801786
CDS Mutation c.10226C>T
AA Mutation p.Thr3409Met(p.T3409M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101032265:101032265(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.849C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101040497:101040497(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9081T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101034677:101034677(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs10249297
CDS Mutation c.3261C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101050598:101050598(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12837G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101032061:101032061(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.645C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101036498:101036498(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5082T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101036519:101036519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113242057
CDS Mutation c.5103G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101032451:101032451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368047713
CDS Mutation c.1035G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101033381:101033381(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1965C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101043578:101043578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754413687
CDS Mutation c.12162G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101035784:101035784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4368A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101039876:101039876(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140072363
CDS Mutation c.8460G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101036231:101036231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs535439393
CDS Mutation c.4815C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101035280:101035280(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766413428
CDS Mutation c.3864G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101050583:101050583(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12822G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101038586:101038586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7170A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000306151
Start 101048918:101048918(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.12614delA
AA Mutation p.Asn4205ThrfsTer18(p.N4205Tfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000306151
Start 101040028:101040028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8612T>G
AA Mutation p.Leu2871Ter(p.L2871*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000306151
Start 101042977:101042977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11561C>A
AA Mutation p.Ser3854Ter(p.S3854*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained
Transcription ID ENST00000306151
Start 101042614:101042614(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11198C>A
AA Mutation p.Ser3733Ter(p.S3733*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000306151
Start 101041869:101041870(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.10455dupC
AA Mutation p.Ser3486GlnfsTer18(p.S3486Qfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MUC17

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101042657:101042657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11241G>T
AA Mutation p.Met3747Ile(p.M3747I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101036262:101036262(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768113808
CDS Mutation c.4846G>A
AA Mutation p.Ala1616Thr(p.A1616T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041195:101041195(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141885406
CDS Mutation c.9779G>T
AA Mutation p.Ser3260Ile(p.S3260I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101034691:101034691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3275C>T
AA Mutation p.Pro1092Leu(p.P1092L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101041465:101041465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150088438
CDS Mutation c.10049C>T
AA Mutation p.Thr3350Met(p.T3350M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101037997:101037997(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763858746
CDS Mutation c.6581A>C
AA Mutation p.Asn2194Thr(p.N2194T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101033728:101033728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2312C>G
AA Mutation p.Pro771Arg(p.P771R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101048924:101048924(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746069097
CDS Mutation c.12615C>A
AA Mutation p.Asn4205Lys(p.N4205K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101035284:101035284(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3868G>T
AA Mutation p.Val1290Leu(p.V1290L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101033050:101033050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1634C>A
AA Mutation p.Ser545Tyr(p.S545Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101033935:101033935(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2519C>A
AA Mutation p.Ser840Tyr(p.S840Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101034112:101034112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2696C>A
AA Mutation p.Ser899Tyr(p.S899Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101035251:101035251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3835C>A
AA Mutation p.Leu1279Ile(p.L1279I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101037664:101037664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6248C>T
AA Mutation p.Ser2083Leu(p.S2083L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101039022:101039022(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7606T>C
AA Mutation p.Ser2536Pro(p.S2536P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000306151
Start 101048046:101048046(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12466C>T
AA Mutation p.Leu4156Phe(p.L4156F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000306151
Start 101039021:101039021(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7605T>A
Mutation Classification Silent
Feature Type Transcript