Primary Site >> Stomach Cancer

Gene >> COL12A1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75095176:75095176(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8581A>G
AA Mutation p.Ser2861Gly(p.S2861G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75165692:75165692(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779848906
CDS Mutation c.2798G>A
AA Mutation p.Arg933His(p.R933H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000322507
Start 75148358:75148358(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4287A>C
AA Mutation p.Glu1429Asp(p.E1429D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75155824:75155824(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3281A>C
AA Mutation p.Lys1094Thr(p.K1094T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75134812:75134812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5438T>G
AA Mutation p.Leu1813Arg(p.L1813R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75090194:75090194(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8857G>A
AA Mutation p.Ala2953Thr(p.A2953T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75125222:75125222(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6512T>C
AA Mutation p.Leu2171Ser(p.L2171S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75180956:75180956(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2147A>G
AA Mutation p.Glu716Gly(p.E716G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75188493:75188493(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.866C>A
AA Mutation p.Ser289Tyr(p.S289Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75119094:75119094(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7303G>A
AA Mutation p.Gly2435Ser(p.G2435S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75131983:75131983(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199747984
CDS Mutation c.5894G>A
AA Mutation p.Arg1965His(p.R1965H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75090152:75090152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8899T>G
AA Mutation p.Phe2967Val(p.F2967V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75183179:75183179(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1762G>T
AA Mutation p.Ala588Ser(p.A588S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75089114:75089114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9002G>C
AA Mutation p.Gly3001Ala(p.G3001A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75183514:75183514(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767743127
CDS Mutation c.1427G>A
AA Mutation p.Arg476Lys(p.R476K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75183200:75183200(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764727126
CDS Mutation c.1741C>T
AA Mutation p.Arg581Cys(p.R581C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75128394:75128394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6242T>C
AA Mutation p.Ile2081Thr(p.I2081T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75143316:75143316(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4763C>A
AA Mutation p.Pro1588His(p.P1588H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75152170:75152170(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3796G>A
AA Mutation p.Val1266Met(p.V1266M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75137457:75137457(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5374G>T
AA Mutation p.Gly1792Trp(p.G1792W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75087605:75087605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9153C>A
AA Mutation p.Ser3051Arg(p.S3051R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75138851:75138851(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5068G>A
AA Mutation p.Ala1690Thr(p.A1690T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75183500:75183500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1441C>A
AA Mutation p.Leu481Ile(p.L481I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75102676:75102676(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190917891
CDS Mutation c.8336G>A
AA Mutation p.Arg2779His(p.R2779H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75143298:75143298(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373006852
CDS Mutation c.4781G>A
AA Mutation p.Arg1594His(p.R1594H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75175274:75175274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2474C>A
AA Mutation p.Pro825His(p.P825H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75188460:75188460(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763589676
CDS Mutation c.899C>T
AA Mutation p.Ala300Val(p.A300V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75087601:75087601(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9157C>G
AA Mutation p.Pro3053Ala(p.P3053A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000322507
Start 75130854:75130854(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6065C>T
AA Mutation p.Thr2022Met(p.T2022M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75148458:75148458(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370549168
CDS Mutation c.4187G>A
AA Mutation p.Arg1396Gln(p.R1396Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75089121:75089121(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8995C>A
AA Mutation p.Leu2999Met(p.L2999M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75145356:75145356(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4660A>G
AA Mutation p.Ser1554Gly(p.S1554G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75087667:75087667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9091A>T
AA Mutation p.Asn3031Tyr(p.N3031Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75124004:75124004(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6815T>G
AA Mutation p.Val2272Gly(p.V2272G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75184025:75184025(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1117G>A
AA Mutation p.Ala373Thr(p.A373T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75130221:75130221(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780058273
CDS Mutation c.6080G>A
AA Mutation p.Gly2027Glu(p.G2027E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75137495:75137495(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748487098
CDS Mutation c.5336G>A
AA Mutation p.Arg1779His(p.R1779H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75152192:75152192(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375043994
CDS Mutation c.3774C>G
AA Mutation p.Asp1258Glu(p.D1258E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75165693:75165693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377223474
CDS Mutation c.2797C>T
AA Mutation p.Arg933Cys(p.R933C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75115788:75115788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7693A>G
AA Mutation p.Thr2565Ala(p.T2565A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75089114:75089114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9002G>A
AA Mutation p.Gly3001Asp(p.G3001D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75121387:75121387(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs796052093
CDS Mutation c.7001T>C
AA Mutation p.Ile2334Thr(p.I2334T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75138953:75138953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4966C>T
AA Mutation p.Pro1656Ser(p.P1656S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75117463:75117463(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs183898615
CDS Mutation c.7438G>A
AA Mutation p.Val2480Met(p.V2480M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000322507
Start 75091389:75091389(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8686G>A
AA Mutation p.Gly2896Arg(p.G2896R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75133942:75133942(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5580G>T
AA Mutation p.Leu1860Phe(p.L1860F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75156308:75156308(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3199C>T
AA Mutation p.Pro1067Ser(p.P1067S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75132026:75132026(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771175230
CDS Mutation c.5851G>A
AA Mutation p.Asp1951Asn(p.D1951N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75130962:75130962(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768824483
CDS Mutation c.5957C>T
AA Mutation p.Thr1986Met(p.T1986M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75133316:75133316(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751986784
CDS Mutation c.5771G>A
AA Mutation p.Arg1924His(p.R1924H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75156416:75156416(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575168916
CDS Mutation c.3091C>T
AA Mutation p.Arg1031Cys(p.R1031C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75152386:75152386(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3662T>C
AA Mutation p.Phe1221Ser(p.F1221S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75109115:75109115(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8003A>G
AA Mutation p.Glu2668Gly(p.E2668G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75155665:75155665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3440T>G
AA Mutation p.Leu1147Arg(p.L1147R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75090232:75090232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8819A>G
AA Mutation p.Gln2940Arg(p.Q2940R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75189602:75189602(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.608T>G
AA Mutation p.Leu203Arg(p.L203R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75146116:75146116(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756040230
CDS Mutation c.4546A>G
AA Mutation p.Thr1516Ala(p.T1516A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75138956:75138956(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749368197
CDS Mutation c.4963G>A
AA Mutation p.Val1655Met(p.V1655M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000322507
Start 75130134:75130134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6167G>T
AA Mutation p.Arg2056Met(p.R2056M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75087650:75087650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777425494
CDS Mutation c.9108A>G
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75090207:75090207(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8844A>G
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75124283:75124283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6696C>A
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75105272:75105272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8199T>C
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75117422:75117422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7479A>G
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75143285:75143285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4794T>C
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75152367:75152367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3681A>G
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75155847:75155847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3258G>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75130898:75130898(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6021G>A
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75184008:75184008(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376523503
CDS Mutation c.1134C>T
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75165547:75165547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2943T>C
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75089119:75089119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8997G>T
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75147727:75147727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4365T>C
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75119101:75119101(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7296C>A
Mutation Classification Silent
Feature Type Transcript
ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75128330:75128330(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6306A>G
Mutation Classification Silent
Feature Type Transcript
ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75151913:75151913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3954A>G
Mutation Classification Silent
Feature Type Transcript
ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000322507
Start 75189622:75189622(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748928908
CDS Mutation c.588G>A
Mutation Classification Silent
Feature Type Transcript
ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75130897:75130898(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6021_6022delGT
AA Mutation p.Tyr2008LeufsTer28(p.Y2008Lfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75087681:75087681(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.9077delC
AA Mutation p.Pro3026LeufsTer51(p.P3026Lfs*51)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75183553:75183553(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1388delT
AA Mutation p.Leu463TrpfsTer5(p.L463Wfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75090162:75090162(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8889delG
AA Mutation p.Arg2964GlyfsTer113(p.R2964Gfs*113)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75152354:75152355(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3693_3694delTG
AA Mutation p.Ile1231MetfsTer13(p.I1231Mfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75156372:75156372(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3135delC
AA Mutation p.Thr1046GlnfsTer7(p.T1046Qfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75189582:75189582(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs757069984
CDS Mutation c.628delA
AA Mutation p.Ile210PhefsTer9(p.I210Ffs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75142065:75142065(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4924delG
AA Mutation p.Glu1642SerfsTer5(p.E1642Sfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75123397:75123397(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6879delA
AA Mutation p.Lys2293AsnfsTer35(p.K2293Nfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 86
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000322507
Start 75183438:75183439(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1502_1503insGAATCAGGAAAGATAACTAATG
AA Mutation p.Asp502AsnfsTer5(p.D502Nfs*5)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 87
Mutation Consequence stop_gained
Transcription ID ENST00000322507
Start 75181083:75181083(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2020G>T
AA Mutation p.Glu674Ter(p.E674*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 88
Mutation Consequence stop_gained
Transcription ID ENST00000322507
Start 75087655:75087655(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9103C>T
AA Mutation p.Arg3035Ter(p.R3035*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 89
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75087680:75087681(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9077dupC
AA Mutation p.Gly3027TrpfsTer19(p.G3027Wfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000322507
Start 75181121:75181122(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1981dupT
AA Mutation p.Ser661PhefsTer13(p.S661Ffs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 91
Mutation Consequence splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000322507
Start 75095163:75095195(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8578-16_8594delTTTCCATGTGTTGTAGGGAAGCCCAGGCTCCCC
Mutation Classification Splice_Site
Feature Type Transcript
ID 92
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000322507
Start 75087748:75087748(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9011-1G>A
Mutation Classification Splice_Site
Feature Type Transcript