Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SCN1A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166038098:166038098(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918623
CDS Mutation c.2624C>T
AA Mutation p.Thr875Met(p.T875M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000303395
Start 166042423:166042423(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2045G>C
AA Mutation p.Gly682Ala(p.G682A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166002660:166002660(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918805
CDS Mutation c.4096G>A
AA Mutation p.Val1366Ile(p.V1366I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166039464:166039464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757616558
CDS Mutation c.2548G>A
AA Mutation p.Ala850Thr(p.A850T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166036348:166036348(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761408574
CDS Mutation c.3129G>T
AA Mutation p.Lys1043Asn(p.K1043N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165996054:165996054(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770761607
CDS Mutation c.4540T>A
AA Mutation p.Leu1514Ile(p.L1514I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991574:165991574(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5701G>C
AA Mutation p.Val1901Leu(p.V1901L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991618:165991618(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5657G>A
AA Mutation p.Arg1886Gln(p.R1886Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166045105:166045105(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1600T>G
AA Mutation p.Phe534Val(p.F534V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166054721:166054721(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.519T>G
AA Mutation p.Ile173Met(p.I173M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166073562:166073562(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60A>T
AA Mutation p.Glu20Asp(p.E20D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991661:165991661(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5614A>G
AA Mutation p.Thr1872Ala(p.T1872A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166045155:166045155(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1550A>G
AA Mutation p.Glu517Gly(p.E517G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166073540:166073540(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754032480
CDS Mutation c.82C>T
AA Mutation p.Arg28Cys(p.R28C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166045046:166045046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1659C>A
AA Mutation p.His553Gln(p.H553Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991694:165991694(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5581C>T
AA Mutation p.Arg1861Trp(p.R1861W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991477:165991477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs556893466
CDS Mutation c.5798G>A
AA Mutation p.Arg1933Gln(p.R1933Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166043802:166043802(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1910C>T
AA Mutation p.Ala637Val(p.A637V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165992333:165992333(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918791
CDS Mutation c.4942C>T
AA Mutation p.Arg1648Cys(p.R1648C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166043901:166043901(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918769
CDS Mutation c.1811G>A
AA Mutation p.Arg604His(p.R604H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166012152:166012152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3836A>G
AA Mutation p.Tyr1279Cys(p.Y1279C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166043869:166043869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1843G>A
AA Mutation p.Gly615Arg(p.G615R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166002540:166002540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4216G>T
AA Mutation p.Ala1406Ser(p.A1406S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166002623:166002623(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4133A>G
AA Mutation p.Asn1378Ser(p.N1378S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991453:165991453(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756845310
CDS Mutation c.5822C>T
AA Mutation p.Thr1941Met(p.T1941M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166015622:166015622(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3535G>T
AA Mutation p.Ala1179Ser(p.A1179S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166036082:166036082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3395T>G
AA Mutation p.Phe1132Cys(p.F1132C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166043955:166043955(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1757C>A
AA Mutation p.Ser586Tyr(p.S586Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166054660:166054660(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121917935
CDS Mutation c.580G>A
AA Mutation p.Asp194Asn(p.D194N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165992176:165992176(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5099G>T
AA Mutation p.Gly1700Val(p.G1700V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166043703:166043703(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2009A>C
AA Mutation p.Glu670Ala(p.E670A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165992383:165992383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4892C>A
AA Mutation p.Ser1631Tyr(p.S1631Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166042381:166042381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2087C>A
AA Mutation p.Ser696Tyr(p.S696Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166046796:166046796(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1351C>T
AA Mutation p.Leu451Phe(p.L451F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166051737:166051737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.946T>G
AA Mutation p.Ser316Ala(p.S316A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991654:165991654(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5621G>A
AA Mutation p.Arg1874Gln(p.R1874Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991493:165991493(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121917956
CDS Mutation c.5782C>T
AA Mutation p.Arg1928Cys(p.R1928C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166052881:166052881(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.665G>A
AA Mutation p.Arg222Gln(p.R222Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166043870:166043870(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370463183
CDS Mutation c.1842C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166038097:166038097(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2625G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166051881:166051881(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.802C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 165991773:165991773(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754566611
CDS Mutation c.5502G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166043708:166043708(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2004G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166043726:166043726(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1986G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166002676:166002676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4080T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166002595:166002595(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761168283
CDS Mutation c.4161C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 165992388:165992388(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780445
CDS Mutation c.4887C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 165996073:165996073(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750997506
CDS Mutation c.4521C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000303395
Start 166073419:166073426(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.196_203delGGAGACAT
AA Mutation p.Gly66SerfsTer19(p.G66Sfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166073401:166073401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.221C>A
AA Mutation p.Ser74Ter(p.S74*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166039428:166039428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2584C>T
AA Mutation p.Arg862Ter(p.R862*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166013812:166013812(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726710
CDS Mutation c.3637C>T
AA Mutation p.Arg1213Ter(p.R1213*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166043974:166043974(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726736
CDS Mutation c.1738C>T
AA Mutation p.Arg580Ter(p.R580*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166046784:166046784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1363C>T
AA Mutation p.Gln455Ter(p.Q455*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 165991541:165991541(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs77216276
CDS Mutation c.5734C>T
AA Mutation p.Arg1912Ter(p.R1912*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166038129:166038129(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726697
CDS Mutation c.2593C>T
AA Mutation p.Arg865Ter(p.R865*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166052882:166052882(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918624
CDS Mutation c.664C>T
AA Mutation p.Arg222Ter(p.R222*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000303395
Start 166047668:166047668(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726799
CDS Mutation c.1129C>T
AA Mutation p.Arg377Ter(p.R377*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000303395
Start 166073515:166073516(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.106_107insGG
AA Mutation p.Asn36ArgfsTer57(p.N36Rfs*57)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000303395
Start 166036099:166036100(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3377dupA
AA Mutation p.Asn1126LysfsTer8(p.N1126Kfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000303395
Start 166037985:166037986(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2736dupT
AA Mutation p.Gly913TrpfsTer2(p.G913Wfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence splice_donor_variant
Transcription ID ENST00000303395
Start 166054637:166054637(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726827
CDS Mutation c.602+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 63
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000303395
Start 165998176:165998176(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4339-1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> SCN1A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166044009:166044009(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794727025
CDS Mutation c.1703G>A
AA Mutation p.Arg568Gln(p.R568Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166042358:166042358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2110C>A
AA Mutation p.Leu704Ile(p.L704I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165991834:165991834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5441A>G
AA Mutation p.Lys1814Arg(p.K1814R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165996047:165996047(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139300715
CDS Mutation c.4547C>T
AA Mutation p.Ser1516Leu(p.S1516L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166036099:166036099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3378T>A
AA Mutation p.Asn1126Lys(p.N1126K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166041355:166041355(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2291T>C
AA Mutation p.Val764Ala(p.V764A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166042349:166042349(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2119C>A
AA Mutation p.Pro707Thr(p.P707T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 166045141:166045141(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1564A>C
AA Mutation p.Lys522Gln(p.K522Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000303395
Start 165994180:165994180(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4818T>G
AA Mutation p.Ile1606Met(p.I1606M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166047684:166047684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1113T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000303395
Start 166012238:166012238(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771494149
CDS Mutation c.3750G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence splice_donor_variant
Transcription ID ENST00000303395
Start 166058569:166058569(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726803
CDS Mutation c.383+1A>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 13
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000303395
Start 166041470:166041470(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2177-1G>T
Mutation Classification Splice_Site
Feature Type Transcript