Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MYO3A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26154767:26154767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2737C>T
AA Mutation p.Arg913Cys(p.R913C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26203040:26203040(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4663A>G
AA Mutation p.Ser1555Gly(p.S1555G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26096393:26096393(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1575T>G
AA Mutation p.Asn525Lys(p.N525K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174202:26174202(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142853143
CDS Mutation c.3938G>A
AA Mutation p.Arg1313His(p.R1313H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26096599:26096599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1693C>G
AA Mutation p.Gln565Glu(p.Q565E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26067013:26067013(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs564946468
CDS Mutation c.992G>A
AA Mutation p.Arg331Gln(p.R331Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26096602:26096602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1696G>T
AA Mutation p.Asp566Tyr(p.D566Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26066992:26066992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148453072
CDS Mutation c.971C>T
AA Mutation p.Thr324Met(p.T324M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26173886:26173886(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3622G>T
AA Mutation p.Gly1208Trp(p.G1208W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26157389:26157389(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746307707
CDS Mutation c.2873G>A
AA Mutation p.Arg958His(p.R958H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 25954961:25954961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.256T>C
AA Mutation p.Phe86Leu(p.F86L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26193256:26193256(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375133744
CDS Mutation c.4490G>A
AA Mutation p.Arg1497Gln(p.R1497Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000265944
Start 26157514:26157514(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2998C>T
AA Mutation p.Arg1000Trp(p.R1000W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26166090:26166090(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752039263
CDS Mutation c.3023C>T
AA Mutation p.Ser1008Leu(p.S1008L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174127:26174127(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3863C>T
AA Mutation p.Thr1288Ile(p.T1288I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26173803:26173803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3539A>C
AA Mutation p.Glu1180Ala(p.E1180A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26143467:26143467(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202173336
CDS Mutation c.2282A>G
AA Mutation p.Asp761Gly(p.D761G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26154762:26154762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2732C>A
AA Mutation p.Ala911Asp(p.A911D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26170455:26170455(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3314T>G
AA Mutation p.Ile1105Ser(p.I1105S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26203081:26203081(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4704G>T
AA Mutation p.Gln1568His(p.Q1568H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174282:26174282(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4018A>G
AA Mutation p.Thr1340Ala(p.T1340A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174374:26174374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569109177
CDS Mutation c.4110G>T
AA Mutation p.Lys1370Asn(p.K1370N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000265944
Start 26021647:26021647(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.730A>T
AA Mutation p.Arg244Trp(p.R244W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26173780:26173780(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747735494
CDS Mutation c.3516A>C
AA Mutation p.Glu1172Asp(p.E1172D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26211878:26211878(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4766A>C
AA Mutation p.Glu1589Ala(p.E1589A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26096629:26096629(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1723T>C
AA Mutation p.Ser575Pro(p.S575P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26128411:26128411(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781339972
CDS Mutation c.2135G>T
AA Mutation p.Ser712Ile(p.S712I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26070148:26070148(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1208G>A
AA Mutation p.Ser403Asn(p.S403N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26153925:26153925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2711C>A
AA Mutation p.Ala904Glu(p.A904E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26193282:26193282(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779605870
CDS Mutation c.4516G>A
AA Mutation p.Glu1506Lys(p.E1506K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26128516:26128516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2240A>G
AA Mutation p.Gln747Arg(p.Q747R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174111:26174111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3847A>C
AA Mutation p.Lys1283Gln(p.K1283Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26067004:26067004(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.983A>G
AA Mutation p.Asn328Ser(p.N328S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26145480:26145480(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2451C>A
AA Mutation p.Phe817Leu(p.F817L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26120695:26120695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1796G>A
AA Mutation p.Ser599Asn(p.S599N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26145512:26145512(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2483G>T
AA Mutation p.Gly828Val(p.G828V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26176790:26176790(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4383T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26147510:26147510(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150600683
CDS Mutation c.2586C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26173712:26173712(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3448A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26173693:26173693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3429T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26168717:26168717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3117C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26143579:26143579(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2394G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26088217:26088217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1374C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 25997239:25997239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.489A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26143471:26143471(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769033565
CDS Mutation c.2286G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26157501:26157501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2985T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26096598:26096598(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1692A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26211939:26211939(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4827C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000265944
Start 26173831:26173831(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3574delA
AA Mutation p.Met1192Ter(p.M1192*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000265944
Start 26157482:26157482(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2968delC
AA Mutation p.His990IlefsTer9(p.H990Ifs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000265944
Start 26168827:26168827(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs766927540
CDS Mutation c.3232delA
AA Mutation p.Ile1078TyrfsTer10(p.I1078Yfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000265944
Start 26067012:26067012(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749269594
CDS Mutation c.991C>T
AA Mutation p.Arg331Ter(p.R331*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000265944
Start 26157466:26157466(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759428208
CDS Mutation c.2950C>T
AA Mutation p.Arg984Ter(p.R984*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000265944
Start 26128448:26128449(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2180dupA
AA Mutation p.Asn727LysfsTer9(p.N727Kfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000265944
Start 26096385:26096386(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1574dupA
AA Mutation p.Asn525LysfsTer14(p.N525Kfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 56
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000265944
Start 26173662:26173662(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3399-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> MYO3A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26096436:26096436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1618A>C
AA Mutation p.Lys540Gln(p.K540Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174426:26174426(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4162A>G
AA Mutation p.Arg1388Gly(p.R1388G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26088374:26088374(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1531C>A
AA Mutation p.Leu511Met(p.L511M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 25952233:25952233(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.123G>T
AA Mutation p.Lys41Asn(p.K41N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26096391:26096391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1573A>C
AA Mutation p.Asn525His(p.N525H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26026459:26026459(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.880G>T
AA Mutation p.Asp294Tyr(p.D294Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26068807:26068807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1093G>T
AA Mutation p.Asp365Tyr(p.D365Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26088342:26088342(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138526349
CDS Mutation c.1499C>T
AA Mutation p.Ala500Val(p.A500V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26168807:26168807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3207C>A
AA Mutation p.Phe1069Leu(p.F1069L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26176785:26176785(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4378C>A
AA Mutation p.Leu1460Met(p.L1460M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 25997229:25997229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200879713
CDS Mutation c.479C>T
AA Mutation p.Thr160Met(p.T160M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26173797:26173797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3533C>T
AA Mutation p.Ala1178Val(p.A1178V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26174379:26174379(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781063061
CDS Mutation c.4115C>A
AA Mutation p.Ser1372Tyr(p.S1372Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000265944
Start 26166152:26166152(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs56403976
CDS Mutation c.3085G>A
AA Mutation p.Asp1029Asn(p.D1029N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26088376:26088376(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1533G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000265944
Start 26154769:26154769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2739T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000265944
Start 26128464:26128464(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2188G>T
AA Mutation p.Glu730Ter(p.E730*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000265944
Start 26120796:26120796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1897G>T
AA Mutation p.Glu633Ter(p.E633*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence stop_gained
Transcription ID ENST00000265944
Start 26125484:26125484(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1990C>T
AA Mutation p.Arg664Ter(p.R664*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000265944
Start 26157466:26157466(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759428208
CDS Mutation c.2950C>T
AA Mutation p.Arg984Ter(p.R984*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript