Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL7A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48592126:48592126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1216G>A
AA Mutation p.Ala406Thr(p.A406T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000328333
Start 48581123:48581123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764468586
CDS Mutation c.4934C>T
AA Mutation p.Pro1645Leu(p.P1645L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48585074:48585074(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778191454
CDS Mutation c.3937G>A
AA Mutation p.Ala1313Thr(p.A1313T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48590470:48590470(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757193272
CDS Mutation c.1895G>A
AA Mutation p.Ser632Asn(p.S632N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48594401:48594401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.233G>A
AA Mutation p.Arg78His(p.R78H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48580604:48580604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5029G>T
AA Mutation p.Asp1677Tyr(p.D1677Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48586195:48586195(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189206728
CDS Mutation c.3602G>A
AA Mutation p.Arg1201His(p.R1201H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48572694:48572694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6877G>A
AA Mutation p.Gly2293Ser(p.G2293S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48585585:48585585(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3866C>T
AA Mutation p.Pro1289Leu(p.P1289L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48575359:48575359(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751691247
CDS Mutation c.6160G>A
AA Mutation p.Ala2054Thr(p.A2054T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48564827:48564827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8774G>A
AA Mutation p.Cys2925Tyr(p.C2925Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48582345:48582345(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs2229824
CDS Mutation c.4613G>A
AA Mutation p.Arg1538His(p.R1538H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48591978:48591978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1277T>C
AA Mutation p.Leu426Pro(p.L426P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48589665:48589665(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2104G>A
AA Mutation p.Val702Ile(p.V702I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48566921:48566921(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8212C>G
AA Mutation p.Leu2738Val(p.L2738V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48590237:48590237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2026G>A
AA Mutation p.Ala676Thr(p.A676T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48578499:48578499(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756258247
CDS Mutation c.5441G>A
AA Mutation p.Arg1814His(p.R1814H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48592211:48592211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1131G>T
AA Mutation p.Gln377His(p.Q377H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48570166:48570166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7453C>T
AA Mutation p.Arg2485Cys(p.R2485C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48566910:48566910(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8223G>T
AA Mutation p.Gln2741His(p.Q2741H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48586667:48586667(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3299A>G
AA Mutation p.His1100Arg(p.H1100R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48591532:48591532(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749579224
CDS Mutation c.1568G>A
AA Mutation p.Arg523Gln(p.R523Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48568791:48568791(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7751G>T
AA Mutation p.Gly2584Val(p.G2584V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48567885:48567885(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376588113
CDS Mutation c.7882C>T
AA Mutation p.Arg2628Trp(p.R2628W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48564819:48564819(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8782C>T
AA Mutation p.Arg2928Cys(p.R2928C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48580035:48580035(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747945597
CDS Mutation c.5120G>A
AA Mutation p.Arg1707Gln(p.R1707Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48573197:48573197(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6691C>A
AA Mutation p.Pro2231Thr(p.P2231T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48588785:48588785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200854297
CDS Mutation c.2444G>A
AA Mutation p.Gly815Asp(p.G815D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48576762:48576762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5614G>A
AA Mutation p.Gly1872Ser(p.G1872S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48565193:48565193(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750604521
CDS Mutation c.8536C>T
AA Mutation p.Pro2846Ser(p.P2846S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48565433:48565433(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139014122
CDS Mutation c.8504G>A
AA Mutation p.Arg2835His(p.R2835H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48567595:48567595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8025G>T
AA Mutation p.Lys2675Asn(p.K2675N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48575236:48575236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912849
CDS Mutation c.6187C>T
AA Mutation p.Arg2063Trp(p.R2063W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48575445:48575445(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766931219
CDS Mutation c.6074G>C
AA Mutation p.Gly2025Ala(p.G2025A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48581301:48581301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781705982
CDS Mutation c.4858C>T
AA Mutation p.Arg1620Trp(p.R1620W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48593640:48593640(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752101927
CDS Mutation c.323G>A
AA Mutation p.Arg108His(p.R108H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48587243:48587243(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376090628
CDS Mutation c.3086C>T
AA Mutation p.Thr1029Met(p.T1029M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48592176:48592176(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371145958
CDS Mutation c.1166C>T
AA Mutation p.Thr389Met(p.T389M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48590495:48590495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1870G>A
AA Mutation p.Ala624Thr(p.A624T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48588677:48588677(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202126339
CDS Mutation c.2552G>A
AA Mutation p.Arg851His(p.R851H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48593650:48593650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778085630
CDS Mutation c.313C>T
AA Mutation p.Arg105Cys(p.R105C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48575677:48575677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5928G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48587032:48587032(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3216G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48589636:48589636(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2133C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48590773:48590773(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1680C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48593154:48593154(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs117857033
CDS Mutation c.630C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48588376:48588376(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2616G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48591752:48591752(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138330564
CDS Mutation c.1428G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48586239:48586239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3558T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48565649:48565649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779725201
CDS Mutation c.8427C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48591950:48591950(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1305delG
AA Mutation p.Trp435Ter(p.W435*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48573345:48573345(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6622delG
AA Mutation p.Glu2208SerfsTer12(p.E2208Sfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48579490:48579490(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5261delC
AA Mutation p.Pro1754GlnfsTer87(p.P1754Qfs*87)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48575438:48575438(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs780623622
CDS Mutation c.6081delC
AA Mutation p.Pro2029LeufsTer177(p.P2029Lfs*177)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48583737:48583737(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs753185460
CDS Mutation c.4322delC
AA Mutation p.Pro1441LeufsTer269(p.P1441Lfs*269)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48584368:48584368(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs757976973
CDS Mutation c.4127delC
AA Mutation p.Pro1376LeufsTer23(p.P1376Lfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48566991:48566991(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8142delC
AA Mutation p.Ser2715ValfsTer71(p.S2715Vfs*71)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48575636:48575636(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5969delC
AA Mutation p.Pro1990GlnfsTer15(p.P1990Qfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48572678:48572678(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6893delC
AA Mutation p.Pro2298LeufsTer90(p.P2298Lfs*90)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000328333
Start 48570145:48570145(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765529435
CDS Mutation c.7474C>T
AA Mutation p.Arg2492Ter(p.R2492*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000328333
Start 48590721:48590721(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144023803
CDS Mutation c.1732C>T
AA Mutation p.Arg578Ter(p.R578*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48593618:48593619(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.344dupG
AA Mutation p.Asn116GlnfsTer13(p.N116Qfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48573864:48573865(version: GRCh38)
Mutation Type INS
dbSNP_RS rs768128088
CDS Mutation c.6527dupC
AA Mutation p.Gly2177TrpfsTer113(p.G2177Wfs*113)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000328333
Start 48569762:48569762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7522-2A>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> COL7A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48590530:48590530(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752967088
CDS Mutation c.1835C>T
AA Mutation p.Thr612Met(p.T612M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48569891:48569891(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201897441
CDS Mutation c.7510C>T
AA Mutation p.Arg2504Cys(p.R2504C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48575649:48575649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144208360
CDS Mutation c.5956G>A
AA Mutation p.Glu1986Lys(p.E1986K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48579241:48579241(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374718902
CDS Mutation c.5344G>A
AA Mutation p.Gly1782Arg(p.G1782R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48584508:48584508(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147089666
CDS Mutation c.4096C>T
AA Mutation p.Arg1366Trp(p.R1366W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000328333
Start 48564825:48564825(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8776G>A
AA Mutation p.Glu2926Lys(p.E2926K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48592613:48592613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912830
CDS Mutation c.933C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48593573:48593573(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.390C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000328333
Start 48570161:48570161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766547317
CDS Mutation c.7458C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000328333
Start 48582486:48582486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4591G>T
AA Mutation p.Gly1531Ter(p.G1531*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000328333
Start 48584367:48584368(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4127dupC
AA Mutation p.Gly1377TrpfsTer25(p.G1377Wfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript