Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HERC1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63626056:63626056(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777743186
CDS Mutation c.13204C>T
AA Mutation p.Arg4402Trp(p.R4402W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63616639:63616639(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13732C>G
AA Mutation p.Gln4578Glu(p.Q4578E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63764179:63764179(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.943G>T
AA Mutation p.Asp315Tyr(p.D315Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63652472:63652472(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373098342
CDS Mutation c.10360G>A
AA Mutation p.Val3454Ile(p.V3454I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63698868:63698868(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4765C>A
AA Mutation p.His1589Asn(p.H1589N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63774861:63774861(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.763G>A
AA Mutation p.Ala255Thr(p.A255T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63693993:63693993(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5645G>A
AA Mutation p.Ser1882Asn(p.S1882N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63725354:63725354(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3506C>T
AA Mutation p.Thr1169Ile(p.T1169I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63663087:63663087(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8798A>G
AA Mutation p.Asp2933Gly(p.D2933G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63686382:63686382(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6202A>G
AA Mutation p.Thr2068Ala(p.T2068A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63713372:63713372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4444G>A
AA Mutation p.Gly1482Arg(p.G1482R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63689690:63689690(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781450433
CDS Mutation c.5947C>T
AA Mutation p.Arg1983Cys(p.R1983C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63649864:63649864(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10608G>T
AA Mutation p.Glu3536Asp(p.E3536D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63775382:63775382(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.242C>T
AA Mutation p.Ala81Val(p.A81V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63729262:63729262(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3128A>G
AA Mutation p.Asn1043Ser(p.N1043S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63666067:63666067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8407G>A
AA Mutation p.Glu2803Lys(p.E2803K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63661958:63661958(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774657002
CDS Mutation c.8965G>A
AA Mutation p.Val2989Ile(p.V2989I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63754527:63754527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1752G>T
AA Mutation p.Trp584Cys(p.W584C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63694451:63694451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779058478
CDS Mutation c.5341G>A
AA Mutation p.Val1781Ile(p.V1781I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63747790:63747790(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2288C>A
AA Mutation p.Ser763Tyr(p.S763Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63774939:63774939(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.685C>A
AA Mutation p.Leu229Ile(p.L229I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63672667:63672667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7874A>G
AA Mutation p.Asp2625Gly(p.D2625G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63727669:63727669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3324G>T
AA Mutation p.Gln1108His(p.Q1108H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63640296:63640296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11757G>T
AA Mutation p.Trp3919Cys(p.W3919C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63643525:63643525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11210C>T
AA Mutation p.Ala3737Val(p.A3737V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63729559:63729559(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2959G>A
AA Mutation p.Glu987Lys(p.E987K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63626097:63626097(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755893599
CDS Mutation c.13163C>T
AA Mutation p.Ala4388Val(p.A4388V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63645525:63645525(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143508709
CDS Mutation c.11036G>A
AA Mutation p.Arg3679His(p.R3679H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63630566:63630566(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12866C>T
AA Mutation p.Ala4289Val(p.A4289V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000443617
Start 63753085:63753085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1775G>A
AA Mutation p.Gly592Asp(p.G592D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63674356:63674356(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7832G>T
AA Mutation p.Gly2611Val(p.G2611V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63628728:63628728(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756796869
CDS Mutation c.13054C>T
AA Mutation p.Arg4352Cys(p.R4352C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63678341:63678341(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765707550
CDS Mutation c.6574C>T
AA Mutation p.Arg2192Cys(p.R2192C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63674442:63674442(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7746A>T
AA Mutation p.Arg2582Ser(p.R2582S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63725297:63725297(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3563A>G
AA Mutation p.Gln1188Arg(p.Q1188R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63658579:63658579(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9564C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63643020:63643020(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11370A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63749474:63749474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2112T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63756689:63756689(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs548577788
CDS Mutation c.1281C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63674985:63674985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7203C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63674667:63674667(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7521G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63725320:63725320(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374385019
CDS Mutation c.3540C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63612254:63612254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14397T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000443617
Start 63678017:63678018(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6897_6898delTT
AA Mutation p.Cys2300HisfsTer14(p.C2300Hfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000443617
Start 63694004:63694004(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5634delA
AA Mutation p.Val1879LeufsTer26(p.V1879Lfs*26)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000443617
Start 63678206:63678206(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6709delA
AA Mutation p.Met2237Ter(p.M2237*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63661794:63661794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9129C>A
AA Mutation p.Tyr3043Ter(p.Y3043*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63749713:63749713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1981G>T
AA Mutation p.Glu661Ter(p.E661*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63654157:63654157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10252A>T
AA Mutation p.Lys3418Ter(p.K3418*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63669627:63669627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8117C>A
AA Mutation p.Ser2706Ter(p.S2706*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63775137:63775137(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.487C>T
AA Mutation p.Arg163Ter(p.R163*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63674951:63674951(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7237C>T
AA Mutation p.Arg2413Ter(p.R2413*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63674933:63674933(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7255C>T
AA Mutation p.Arg2419Ter(p.R2419*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000443617
Start 63775308:63775308(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.316C>T
AA Mutation p.Arg106Ter(p.R106*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000443617
Start 63616658:63616659(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.13712_13713insAAACTCT
AA Mutation p.Cys4571Ter(p.C4571*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000443617
Start 63626106:63626107(version: GRCh38)
Mutation Type INS
dbSNP_RS rs772789325
CDS Mutation c.13153dupC
AA Mutation p.Gln4385ProfsTer25(p.Q4385Pfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000443617
Start 63640394:63640395(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11658_11659insCCATTCAT
AA Mutation p.Leu3887ProfsTer44(p.L3887Pfs*44)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence inframe_deletion
Transcription ID ENST00000443617
Start 63678096:63678098(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6817_6819delAAG
AA Mutation p.Lys2273del(p.K2273del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> HERC1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63645591:63645591(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374565654
CDS Mutation c.10970C>T
AA Mutation p.Ser3657Leu(p.S3657L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63652508:63652508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10324C>A
AA Mutation p.Leu3442Ile(p.L3442I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63692450:63692450(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5791G>A
AA Mutation p.Glu1931Lys(p.E1931K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63718641:63718641(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3911G>A
AA Mutation p.Arg1304Gln(p.R1304Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63661958:63661958(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774657002
CDS Mutation c.8965G>A
AA Mutation p.Val2989Ile(p.V2989I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63663042:63663042(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8843C>A
AA Mutation p.Thr2948Asn(p.T2948N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63651278:63651278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10521G>T
AA Mutation p.Lys3507Asn(p.K3507N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63663147:63663147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8738C>A
AA Mutation p.Ser2913Tyr(p.S2913Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63674644:63674644(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7544C>T
AA Mutation p.Ala2515Val(p.A2515V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63692507:63692507(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5734C>T
AA Mutation p.Arg1912Cys(p.R1912C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63678047:63678047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6868G>A
AA Mutation p.Asp2290Asn(p.D2290N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63716418:63716418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4034G>A
AA Mutation p.Arg1345Gln(p.R1345Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63729295:63729295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775255598
CDS Mutation c.3095G>A
AA Mutation p.Arg1032His(p.R1032H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000443617
Start 63732930:63732930(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2862T>G
AA Mutation p.Phe954Leu(p.F954L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63749666:63749666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2028T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63756680:63756680(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1290C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63638756:63638756(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11922C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000443617
Start 63674799:63674799(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374567563
CDS Mutation c.7389C>T
Mutation Classification Silent
Feature Type Transcript