Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CACNA1A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13283361:13283361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3728G>A
AA Mutation p.Arg1243His(p.R1243H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13334391:13334391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1185G>T
AA Mutation p.Trp395Cys(p.W395C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13312706:13312706(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1631C>T
AA Mutation p.Pro544Leu(p.P544L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13317225:13317225(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763944721
CDS Mutation c.1442G>A
AA Mutation p.Arg481His(p.R481H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13303583:13303583(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2135C>A
AA Mutation p.Ala712Asp(p.A712D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000360228
Start 13252993:13252993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4864C>A
AA Mutation p.Leu1622Met(p.L1622M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13506047:13506047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.178G>A
AA Mutation p.Ala60Thr(p.A60T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13330262:13330262(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1327G>T
AA Mutation p.Ala443Ser(p.A443S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13505954:13505954(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.271G>A
AA Mutation p.Ala91Thr(p.A91T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13365379:13365379(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.722C>T
AA Mutation p.Ala241Val(p.A241V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13230190:13230190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5420C>T
AA Mutation p.Ala1807Val(p.A1807V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13262781:13262781(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4042C>T
AA Mutation p.Arg1348Trp(p.R1348W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13371744:13371744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121908211
CDS Mutation c.575G>A
AA Mutation p.Arg192Gln(p.R192Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13207648:13207648(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7186C>T
AA Mutation p.His2396Tyr(p.H2396Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13298631:13298631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3002G>A
AA Mutation p.Arg1001His(p.R1001H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13299153:13299153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2480C>T
AA Mutation p.Pro827Leu(p.P827L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13506022:13506022(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576099495
CDS Mutation c.203G>A
AA Mutation p.Arg68Gln(p.R68Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13303877:13303877(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121908212
CDS Mutation c.1994C>T
AA Mutation p.Thr665Met(p.T665M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13299292:13299292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2341A>G
AA Mutation p.Met781Val(p.M781V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13207795:13207795(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7039G>A
AA Mutation p.Glu2347Lys(p.E2347K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13214319:13214319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749251058
CDS Mutation c.5854G>A
AA Mutation p.Val1952Met(p.V1952M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13283274:13283274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3815G>A
AA Mutation p.Arg1272Gln(p.R1272Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13234947:13234947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5223C>A
AA Mutation p.Phe1741Leu(p.F1741L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13308223:13308223(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756562814
CDS Mutation c.1810G>A
AA Mutation p.Val604Ile(p.V604I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13317236:13317236(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1431C>A
AA Mutation p.Phe477Leu(p.F477L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13334435:13334435(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773593740
CDS Mutation c.1141C>T
AA Mutation p.Arg381Trp(p.R381W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13208941:13208941(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6595C>T
AA Mutation p.Arg2199Trp(p.R2199W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13208856:13208856(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6680G>A
AA Mutation p.Arg2227His(p.R2227H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13214573:13214573(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5767C>T
AA Mutation p.Arg1923Trp(p.R1923W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13283314:13283314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3775G>A
AA Mutation p.Ala1259Thr(p.A1259T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13334471:13334471(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1105C>T
AA Mutation p.Arg369Trp(p.R369W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13334434:13334434(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772354342
CDS Mutation c.1142G>A
AA Mutation p.Arg381Gln(p.R381Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13299261:13299261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2372A>G
AA Mutation p.Glu791Gly(p.E791G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13257469:13257469(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4471G>A
AA Mutation p.Val1491Ile(p.V1491I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13299086:13299086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768719398
CDS Mutation c.2547C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13230117:13230117(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777510892
CDS Mutation c.5493C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13317278:13317278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1389G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13255167:13255167(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377082780
CDS Mutation c.4683C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13224689:13224689(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5709C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13303861:13303861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779250946
CDS Mutation c.2010C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13506066:13506066(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.159G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13286897:13286897(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3159C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13286699:13286699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372364153
CDS Mutation c.3357C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13286543:13286543(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3513C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13312753:13312753(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1584C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13299248:13299248(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2385C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13257470:13257470(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4470C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13308125:13308125(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1908C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13506108:13506108(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374304094
CDS Mutation c.117C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13257467:13257467(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4473C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13208879:13208879(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6657delT
AA Mutation p.Pro2221ArgfsTer45(p.P2221Rfs*45)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13286524:13286524(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs757953057
CDS Mutation c.3532delC
AA Mutation p.Leu1178SerfsTer8(p.L1178Sfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13298586:13298589(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3044_3047delGGGA
AA Mutation p.Gly1015AlafsTer53(p.G1015Afs*53)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13286645:13286645(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3411delC
AA Mutation p.Lys1138ArgfsTer48(p.K1138Rfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13298587:13298587(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3046delG
AA Mutation p.Asp1016ThrfsTer53(p.D1016Tfs*53)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13365396:13365396(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.705delT
AA Mutation p.Phe235LeufsTer9(p.F235Lfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13335861:13335861(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1027delC
AA Mutation p.Leu343SerfsTer10(p.L343Sfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13261576:13261576(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4124delA
AA Mutation p.Asn1375ThrfsTer54(p.N1375Tfs*54)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13298645:13298645(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2988delC
AA Mutation p.Asp997ThrfsTer72(p.D997Tfs*72)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13262760:13262760(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4063delA
AA Mutation p.Thr1355ProfsTer16(p.T1355Pfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000360228
Start 13299224:13299224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2409G>A
AA Mutation p.Trp803Ter(p.W803*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000360228
Start 13299289:13299289(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2344C>T
AA Mutation p.Arg782Ter(p.R782*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13286523:13286524(version: GRCh38)
Mutation Type INS
dbSNP_RS rs777609072
CDS Mutation c.3532dupC
AA Mutation p.Leu1178ProfsTer38(p.L1178Pfs*38)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13234944:13234945(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5225dupT
AA Mutation p.Gln1743ProfsTer29(p.Q1743Pfs*29)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13303825:13303826(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2045dupG
AA Mutation p.Val683ArgfsTer98(p.V683Rfs*98)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13285168:13285169(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3591dupA
AA Mutation p.Glu1198ArgfsTer18(p.E1198Rfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> CACNA1A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13214277:13214277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5896C>T
AA Mutation p.Arg1966Trp(p.R1966W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13303877:13303877(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121908212
CDS Mutation c.1994C>T
AA Mutation p.Thr665Met(p.T665M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13286625:13286625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3431T>G
AA Mutation p.Leu1144Arg(p.L1144R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13317231:13317231(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1436T>C
AA Mutation p.Ile479Thr(p.I479T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13230188:13230188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5422G>A
AA Mutation p.Val1808Ile(p.V1808I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000360228
Start 13231712:13231712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5398C>A
AA Mutation p.Leu1800Met(p.L1800M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13235033:13235033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5137T>G
AA Mutation p.Phe1713Val(p.F1713V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13255124:13255124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4726G>A
AA Mutation p.Ala1576Thr(p.A1576T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13275888:13275888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3951C>A
AA Mutation p.Phe1317Leu(p.F1317L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13308507:13308507(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1690G>A
AA Mutation p.Glu564Lys(p.E564K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13312743:13312743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1594G>A
AA Mutation p.Glu532Lys(p.E532K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13365448:13365448(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121908225
CDS Mutation c.653C>T
AA Mutation p.Ser218Leu(p.S218L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000360228
Start 13308431:13308431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1766T>G
AA Mutation p.Ile589Ser(p.I589S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13359681:13359681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs17846910
CDS Mutation c.903C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13298588:13298588(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3045G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13365333:13365333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.768C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000360228
Start 13308523:13308523(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1674C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13286645:13286645(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3411delC
AA Mutation p.Lys1138ArgfsTer48(p.K1138Rfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000360228
Start 13303826:13303826(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2045delG
AA Mutation p.Gly682AlafsTer15(p.G682Afs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000360228
Start 13371727:13371727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.592C>T
AA Mutation p.Arg198Ter(p.R198*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript