Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA12

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214980586:214980586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4637G>A
AA Mutation p.Arg1546His(p.R1546H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214980560:214980560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4663C>A
AA Mutation p.Leu1555Ile(p.L1555I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214956759:214956759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6137T>C
AA Mutation p.Val2046Ala(p.V2046A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215000804:215000804(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3080G>T
AA Mutation p.Ser1027Ile(p.S1027I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214989363:214989363(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3795C>A
AA Mutation p.Phe1265Leu(p.F1265L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214990779:214990779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3547T>C
AA Mutation p.Tyr1183His(p.Y1183H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215019562:215019562(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1522A>G
AA Mutation p.Lys508Glu(p.K508E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214978943:214978943(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745770941
CDS Mutation c.4838G>A
AA Mutation p.Gly1613Glu(p.G1613E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215000910:215000910(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2974G>A
AA Mutation p.Ala992Thr(p.A992T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215052501:215052501(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.493C>A
AA Mutation p.Leu165Ile(p.L165I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215025728:215025728(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768861556
CDS Mutation c.1232G>A
AA Mutation p.Arg411His(p.R411H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215015633:215015633(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1813T>G
AA Mutation p.Cys605Gly(p.C605G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215045978:215045978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.731A>C
AA Mutation p.Gln244Pro(p.Q244P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215049728:215049728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.591C>A
AA Mutation p.Phe197Leu(p.F197L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214966859:214966859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5873C>T
AA Mutation p.Ala1958Val(p.A1958V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215011513:215011513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2258A>G
AA Mutation p.His753Arg(p.H753R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215064213:215064213(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.170T>A
AA Mutation p.Leu57His(p.L57H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215011532:215011532(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2239C>A
AA Mutation p.Gln747Lys(p.Q747K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215045919:215045919(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.790C>A
AA Mutation p.Gln264Lys(p.Q264K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215018105:215018105(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1685T>C
AA Mutation p.Val562Ala(p.V562A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214959067:214959067(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5896T>C
AA Mutation p.Tyr1966His(p.Y1966H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215019702:215019702(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1382G>A
AA Mutation p.Gly461Glu(p.G461E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214997747:214997747(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3242T>C
AA Mutation p.Ile1081Thr(p.I1081T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214974853:214974853(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs181314573
CDS Mutation c.5393C>T
AA Mutation p.Pro1798Leu(p.P1798L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214980587:214980587(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs13401480
CDS Mutation c.4636C>T
AA Mutation p.Arg1546Cys(p.R1546C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214945054:214945054(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201795274
CDS Mutation c.7290G>T
AA Mutation p.Lys2430Asn(p.K2430N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214958362:214958362(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6032A>G
AA Mutation p.Glu2011Gly(p.E2011G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214978355:214978355(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5089G>A
AA Mutation p.Asp1697Asn(p.D1697N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215000964:215000964(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2920A>C
AA Mutation p.Asn974His(p.N974H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215025749:215025749(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752328328
CDS Mutation c.1211G>A
AA Mutation p.Arg404Gln(p.R404Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215049736:215049736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.583G>T
AA Mutation p.Asp195Tyr(p.D195Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215064204:215064204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762065937
CDS Mutation c.179G>A
AA Mutation p.Arg60Gln(p.R60Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215049693:215049693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.626A>G
AA Mutation p.Lys209Arg(p.K209R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214986696:214986696(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4009C>A
AA Mutation p.Pro1337Thr(p.P1337T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214989572:214989572(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761166029
CDS Mutation c.3674G>A
AA Mutation p.Arg1225Gln(p.R1225Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214948727:214948727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6973C>A
AA Mutation p.His2325Asn(p.H2325N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215010440:215010440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2363T>A
AA Mutation p.Ile788Asn(p.I788N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215045927:215045927(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766593903
CDS Mutation c.782C>T
AA Mutation p.Ala261Val(p.A261V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215001570:215001570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2851G>A
AA Mutation p.Glu951Lys(p.E951K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215064112:215064112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.271G>T
AA Mutation p.Asp91Tyr(p.D91Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214945079:214945079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765289715
CDS Mutation c.7265C>T
AA Mutation p.Pro2422Leu(p.P2422L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214932712:214932712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7710G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214983700:214983700(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4329T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214980594:214980594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4629G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214975859:214975859(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5307T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214945078:214945078(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759699877
CDS Mutation c.7266G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 215025736:215025736(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1224T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214934162:214934162(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372152172
CDS Mutation c.7596C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214955268:214955268(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6327delT
AA Mutation p.Phe2109LeufsTer25(p.F2109Lfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 215052530:215052530(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.464delT
AA Mutation p.Phe155SerfsTer17(p.F155Sfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 215025750:215025750(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1210C>T
AA Mutation p.Arg404Ter(p.R404*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 215049772:215049772(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.547G>T
AA Mutation p.Glu183Ter(p.E183*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 214956774:214956775(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6121_6122insAAG
AA Mutation p.Phe2041delinsTer(p.F2041delins*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 215015552:215015552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1894C>T
AA Mutation p.Gln632Ter(p.Q632*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 214937608:214937608(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199503269
CDS Mutation c.7444C>T
AA Mutation p.Arg2482Ter(p.R2482*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 215001683:215001684(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2737_2738insG
AA Mutation p.Thr913SerfsTer16(p.T913Sfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214980622:214980623(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4600dupA
AA Mutation p.Thr1534AsnfsTer8(p.T1534Nfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000272895
Start 214970273:214970274(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5689dupA
AA Mutation p.Arg1897LysfsTer18(p.R1897Kfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000272895
Start 214951082:214951083(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6648_6649insT
AA Mutation p.Leu2217SerfsTer7(p.L2217Sfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214990807:214990808(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3518dupA
AA Mutation p.Asn1173LysfsTer27(p.N1173Kfs*27)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 215001014:215001015(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2869_2870insG
AA Mutation p.Ile957SerfsTer3(p.I957Sfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214978431:214978432(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5012dupA
AA Mutation p.Asn1671LysfsTer2(p.N1671Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214956772:214956773(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6123dupC
AA Mutation p.Tyr2042LeufsTer23(p.Y2042Lfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_donor_variant
Transcription ID ENST00000272895
Start 215004208:215004208(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2683+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 65
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000272895
Start 215001738:215001738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2684-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ABCA12

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214958386:214958386(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6008G>A
AA Mutation p.Ser2003Asn(p.S2003N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214982222:214982222(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774279263
CDS Mutation c.4544G>A
AA Mutation p.Arg1515Gln(p.R1515Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214956756:214956756(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755491703
CDS Mutation c.6140C>T
AA Mutation p.Ala2047Val(p.A2047V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214978409:214978409(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5035T>G
AA Mutation p.Leu1679Val(p.L1679V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215011514:215011514(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2257C>A
AA Mutation p.His753Asn(p.H753N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215025728:215025728(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1232G>C
AA Mutation p.Arg411Pro(p.R411P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214937579:214937579(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7473G>T
AA Mutation p.Lys2491Asn(p.K2491N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214958438:214958438(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746547558
CDS Mutation c.5956G>A
AA Mutation p.Asp1986Asn(p.D1986N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214974842:214974842(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5404G>A
AA Mutation p.Ala1802Thr(p.A1802T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214982373:214982373(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4393G>T
AA Mutation p.Asp1465Tyr(p.D1465Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215001718:215001718(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2703A>C
AA Mutation p.Leu901Phe(p.L901F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 214976034:214976034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5132A>C
AA Mutation p.Lys1711Thr(p.K1711T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215011568:215011568(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2203A>C
AA Mutation p.Thr735Pro(p.T735P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000272895
Start 215064204:215064204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762065937
CDS Mutation c.179G>A
AA Mutation p.Arg60Gln(p.R60Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214975898:214975898(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5268C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 215025763:215025763(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1197G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214945078:214945078(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759699877
CDS Mutation c.7266G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 214956734:214956734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143237945
CDS Mutation c.6162G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000272895
Start 215010442:215010442(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2361C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214953878:214953881(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6620_6623delTCAA
AA Mutation p.Ile2207ThrfsTer4(p.I2207Tfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 215011486:215011486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2285T>G
AA Mutation p.Leu762Ter(p.L762*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 214959053:214959053(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5910T>G
AA Mutation p.Tyr1970Ter(p.Y1970*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 214937516:214937516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7536C>A
AA Mutation p.Tyr2512Ter(p.Y2512*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 215015588:215015588(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1858G>T
AA Mutation p.Glu620Ter(p.E620*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000272895
Start 215049778:215049778(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758756716
CDS Mutation c.541C>T
AA Mutation p.Arg181Ter(p.R181*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000272895
Start 214978431:214978432(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5012dupA
AA Mutation p.Asn1671LysfsTer2(p.N1671Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 27
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000272895
Start 215012137:215012137(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1957-2A>G
Mutation Classification Splice_Site
Feature Type Transcript