|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
|
NM_003476.5(CSRP3):c.150G>A (p.Ala50=)
|
rs7124801
|
0.03207
|
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
|
NM_003476.5(CSRP3):c.213C>T (p.Ile71=)
|
rs45476991
|
0.00466
|
|
NM_003476.5(CSRP3):c.508+18C>T
|
rs144404101
|
0.00311
|
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
|
NM_003476.5(CSRP3):c.*12G>A
|
rs45607943
|
0.00108
|
|
NM_003476.5(CSRP3):c.162G>A (p.Ser54=)
|
rs112848043
|
0.00104
|
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00091
|
|
NM_003476.5(CSRP3):c.*245T>C
|
rs369635973
|
0.00081
|
|
NM_003476.5(CSRP3):c.*638T>C
|
rs779532194
|
0.00056
|
|
NM_003476.5(CSRP3):c.*415A>G
|
rs180844111
|
0.00032
|
|
NM_003476.5(CSRP3):c.*559G>A
|
rs45606836
|
0.00026
|
|
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu)
|
rs769003538
|
0.00016
|
|
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys)
|
rs368392588
|
0.00009
|
|
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)
|
rs727504436
|
0.00009
|
|
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)
|
rs149201422
|
0.00009
|
|
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)
|
rs111868331
|
0.00009
|
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00008
|
|
NM_003476.5(CSRP3):c.294G>A (p.Pro98=)
|
rs142832902
|
0.00007
|
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
|
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr)
|
rs145300736
|
0.00006
|
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
|
NM_003476.5(CSRP3):c.415-9G>C
|
rs761203242
|
0.00005
|
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
|
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly)
|
rs772138289
|
0.00004
|
|
NM_003476.5(CSRP3):c.252G>A (p.Thr84=)
|
rs755614464
|
0.00004
|
|
NM_003476.5(CSRP3):c.300C>T (p.Arg100=)
|
rs146290726
|
0.00004
|
|
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
|
rs193922667
|
0.00004
|
|
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)
|
rs142019584
|
0.00004
|
|
NM_003476.5(CSRP3):c.112+1G>A
|
rs746990436
|
0.00003
|
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
|
NM_003476.5(CSRP3):c.191G>A (p.Arg64His)
|
rs375014380
|
0.00003
|
|
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg)
|
rs45552933
|
0.00003
|
|
NM_003476.5(CSRP3):c.21C>T (p.Gly7=)
|
rs151177504
|
0.00003
|
|
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr)
|
rs45531937
|
0.00003
|
|
NM_003476.5(CSRP3):c.242G>A (p.Ser81Asn)
|
rs1401452451
|
0.00003
|
|
NM_003476.5(CSRP3):c.282-16C>A
|
rs757074408
|
0.00003
|
|
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu)
|
rs766783066
|
0.00003
|
|
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)
|
rs201214593
|
0.00003
|
|
NM_003476.5(CSRP3):c.327A>G (p.Lys109=)
|
rs778512127
|
0.00003
|
|
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys)
|
rs763096875
|
0.00003
|
|
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)
|
rs376198883
|
0.00003
|
|
NM_003476.5(CSRP3):c.508+9T>C
|
rs727504517
|
0.00003
|
|
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu)
|
rs145073736
|
0.00003
|
|
NM_003476.5(CSRP3):c.99G>A (p.Thr33=)
|
rs147549410
|
0.00003
|
|
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp)
|
rs397516853
|
0.00002
|
|
NM_003476.5(CSRP3):c.15C>T (p.Gly5=)
|
rs747959696
|
0.00002
|
|
NM_003476.5(CSRP3):c.282-16C>T
|
rs757074408
|
0.00002
|
|
NM_003476.5(CSRP3):c.414+6A>G
|
rs745491806
|
0.00002
|
|
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
|
rs377066670
|
0.00002
|
|
NM_003476.5(CSRP3):c.*575T>C
|
rs886048093
|
0.00001
|
|
NM_003476.5(CSRP3):c.113-17C>T
|
rs1188178778
|
0.00001
|
|
NM_003476.5(CSRP3):c.113-20A>T
|
rs1850563000
|
0.00001
|
|
NM_003476.5(CSRP3):c.113-3C>A
|
rs1310679270
|
0.00001
|
|
NM_003476.5(CSRP3):c.120C>T (p.Cys40=)
|
rs112884796
|
0.00001
|
|
NM_003476.5(CSRP3):c.128del (p.Ala43fs)
|
rs1187710437
|
0.00001
|
|
NM_003476.5(CSRP3):c.141G>A (p.Thr47=)
|
rs758842207
|
0.00001
|
|
NM_003476.5(CSRP3):c.161C>T (p.Ser54Leu)
|
rs759455306
|
0.00001
|
|
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met)
|
rs767360228
|
0.00001
|
|
NM_003476.5(CSRP3):c.201C>T (p.Gly67=)
|
rs557643642
|
0.00001
|
|
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)
|
rs137852764
|
0.00001
|
|
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp)
|
rs777211110
|
0.00001
|
|
NM_003476.5(CSRP3):c.210G>A (p.Gly70=)
|
rs1330897950
|
0.00001
|
|
NM_003476.5(CSRP3):c.228C>T (p.Gly76=)
|
rs768767452
|
0.00001
|
|
NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)
|
rs199793773
|
0.00001
|
|
NM_003476.5(CSRP3):c.240C>T (p.Leu80=)
|
rs771444930
|
0.00001
|
|
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met)
|
rs777327517
|
0.00001
|
|
NM_003476.5(CSRP3):c.255C>T (p.Gly85=)
|
rs752338221
|
0.00001
|
|
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys)
|
rs780917755
|
0.00001
|
|
NM_003476.5(CSRP3):c.258G>A (p.Glu86=)
|
rs182798086
|
0.00001
|
|
NM_003476.5(CSRP3):c.261T>C (p.His87=)
|
rs773476497
|
0.00001
|
|
NM_003476.5(CSRP3):c.264C>A (p.Leu88=)
|
rs758256351
|
0.00001
|
|
NM_003476.5(CSRP3):c.279A>G (p.Gln93=)
|
rs1394545167
|
0.00001
|
|
NM_003476.5(CSRP3):c.281+3G>A
|
rs1310211638
|
0.00001
|
|
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala)
|
rs1190724900
|
0.00001
|
|
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe)
|
rs767477787
|
0.00001
|
|
NM_003476.5(CSRP3):c.293C>T (p.Pro98Leu)
|
rs773411006
|
0.00001
|
|
NM_003476.5(CSRP3):c.29G>A (p.Cys10Tyr)
|
rs141980088
|
0.00001
|
|
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)
|
rs746707959
|
0.00001
|
|
NM_003476.5(CSRP3):c.309C>G (p.Thr103=)
|
rs1273565241
|
0.00001
|
|
NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile)
|
rs758083208
|
0.00001
|
|
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
|
rs1850524848
|
0.00001
|
|
NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter)
|
rs863224716
|
0.00001
|
|
NM_003476.5(CSRP3):c.338A>C (p.Lys113Thr)
|
rs1181876627
|
0.00001
|
|
NM_003476.5(CSRP3):c.339G>A (p.Lys113=)
|
rs1394465819
|
0.00001
|
|
NM_003476.5(CSRP3):c.351C>T (p.Ser117=)
|
rs766621810
|
0.00001
|
|
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)
|
rs902082118
|
0.00001
|
|
NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg)
|
rs1301857786
|
0.00001
|
|
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter)
|
rs1216811263
|
0.00001
|
|
NM_003476.5(CSRP3):c.38G>A (p.Cys13Tyr)
|
rs182726860
|
0.00001
|
|
NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys)
|
rs771861706
|
0.00001
|
|
NM_003476.5(CSRP3):c.414+16T>C
|
rs778831593
|
0.00001
|
|
NM_003476.5(CSRP3):c.414+8C>T
|
rs1369057642
|
0.00001
|
|
NM_003476.5(CSRP3):c.415-11G>A
|
rs886048097
|
0.00001
|
|
NM_003476.5(CSRP3):c.415-1G>T
|
rs775194825
|
0.00001
|
|
NM_003476.5(CSRP3):c.415-3C>T
|
rs1168570588
|
0.00001
|
|
NM_003476.5(CSRP3):c.43A>G (p.Lys15Glu)
|
rs992234249
|
0.00001
|
|
NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe)
|
rs1490491672
|
0.00001
|
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
|
NM_003476.5(CSRP3):c.465G>A (p.Glu155=)
|
rs200334242
|
0.00001
|
|
NM_003476.5(CSRP3):c.472A>G (p.Asn158Asp)
|
rs1373333255
|
0.00001
|
|
NM_003476.5(CSRP3):c.481G>C (p.Asp161His)
|
rs138254181
|
0.00001
|
|
NM_003476.5(CSRP3):c.48C>T (p.Thr16=)
|
rs753120437
|
0.00001
|
|
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)
|
rs150114628
|
0.00001
|
|
NM_003476.5(CSRP3):c.501T>C (p.Tyr167=)
|
rs1161551238
|
0.00001
|
|
NM_003476.5(CSRP3):c.508+17A>T
|
rs373822409
|
0.00001
|
|
NM_003476.5(CSRP3):c.508+2T>C
|
rs754267141
|
0.00001
|
|
NM_003476.5(CSRP3):c.509-16C>T
|
rs371700321
|
0.00001
|
|
NM_003476.5(CSRP3):c.509-20C>T
|
rs375020550
|
0.00001
|
|
NM_003476.5(CSRP3):c.511T>C (p.Cys171Arg)
|
rs770760020
|
0.00001
|
|
NM_003476.5(CSRP3):c.513C>T (p.Cys171=)
|
rs376799144
|
0.00001
|
|
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=)
|
rs727504575
|
0.00001
|
|
NM_003476.5(CSRP3):c.52del (p.Tyr18fs)
|
rs759305806
|
0.00001
|
|
NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser)
|
rs749002955
|
0.00001
|
|
NM_003476.5(CSRP3):c.537G>A (p.Thr179=)
|
rs886048096
|
0.00001
|
|
NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys)
|
rs547374738
|
0.00001
|
|
NM_003476.5(CSRP3):c.541A>G (p.Ile181Val)
|
rs904202473
|
0.00001
|
|
NM_003476.5(CSRP3):c.55C>G (p.His19Asp)
|
rs375525973
|
0.00001
|
|
NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn)
|
rs141100524
|
0.00001
|
|
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn)
|
rs372717179
|
0.00001
|
|
NM_003476.5(CSRP3):c.90C>T (p.Phe30=)
|
rs772727223
|
0.00001
|
|
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met)
|
rs758947977
|
0.00001
|
|
NC_000011.10:g.(?_19184942)_(19188314_?)del
|
|
|
|
NC_000011.9:g.(?_18418390)_(19204313_?)del
|
|
|
|
NC_000011.9:g.(?_18418390)_(19213995_?)del
|
|
|
|
NC_000011.9:g.(?_19204217)_(19209871_?)del
|
|
|
|
NC_000011.9:g.(?_19204217)_(19213995_?)dup
|
|
|
|
NC_000011.9:g.(?_19206479)_(19207915_?)del
|
|
|
|
NC_000011.9:g.(?_19207743)_(19213995_?)del
|
|
|
|
NM_003476.5(CSRP3):c.*159C>T
|
rs886048095
|
|
|
NM_003476.5(CSRP3):c.-8602G>A
|
rs569978006
|
|
|
NM_003476.5(CSRP3):c.106C>T (p.His36Tyr)
|
|
|
|
NM_003476.5(CSRP3):c.108C>T (p.His36=)
|
rs763193066
|
|
|
NM_003476.5(CSRP3):c.109T>C (p.Cys37Arg)
|
rs776468900
|
|
|
NM_003476.5(CSRP3):c.109T>G (p.Cys37Gly)
|
rs776468900
|
|
|
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter)
|
rs1850628800
|
|
|
NM_003476.5(CSRP3):c.112+11T>C
|
rs749361872
|
|
|
NM_003476.5(CSRP3):c.112+12G>A
|
rs2494228918
|
|
|
NM_003476.5(CSRP3):c.112+18C>G
|
|
|
|
NM_003476.5(CSRP3):c.112+19C>T
|
rs781731204
|
|
|
NM_003476.5(CSRP3):c.112+9G>A
|
rs2133516226
|
|
|
NM_003476.5(CSRP3):c.113-17C>A
|
rs1188178778
|
|
|
NM_003476.5(CSRP3):c.113-3C>T
|
rs1310679270
|
|
|
NM_003476.5(CSRP3):c.113T>C (p.Met38Thr)
|
rs796360127
|
|
|
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp)
|
rs748417030
|
|
|
NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly)
|
rs748417030
|
|
|
NM_003476.5(CSRP3):c.119G>A (p.Cys40Tyr)
|
rs1590104486
|
|
|
NM_003476.5(CSRP3):c.123G>A (p.Arg41=)
|
rs1590104476
|
|
|
NM_003476.5(CSRP3):c.126G>A (p.Lys42=)
|
rs2494223822
|
|
|
NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser)
|
rs1174058654
|
|
|
NM_003476.5(CSRP3):c.133G>A (p.Asp45Asn)
|
rs894467251
|
|
|
NM_003476.5(CSRP3):c.136A>G (p.Ser46Gly)
|
rs137852765
|
|
|
NM_003476.5(CSRP3):c.137G>A (p.Ser46Asn)
|
|
|
|
NM_003476.5(CSRP3):c.141G>T (p.Thr47=)
|
rs758842207
|
|
|
NM_003476.5(CSRP3):c.143C>A (p.Thr48Lys)
|
rs1850561050
|
|
|
NM_003476.5(CSRP3):c.143C>T (p.Thr48Ile)
|
rs1850561050
|
|
|
NM_003476.5(CSRP3):c.144A>C (p.Thr48=)
|
rs2494223655
|
|
|
NM_003476.5(CSRP3):c.147C>T (p.Val49=)
|
rs576346189
|
|
|
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu)
|
rs139805841
|
|
|
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val)
|
rs139805841
|
|
|
NM_003476.5(CSRP3):c.14G>A (p.Gly5Asp)
|
rs2133516544
|
|
|
NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser)
|
rs1850560688
|
|
|
NM_003476.5(CSRP3):c.154C>T (p.His52Tyr)
|
rs1590104432
|
|
|
NM_003476.5(CSRP3):c.155A>C (p.His52Pro)
|
rs767326021
|
|
|
NM_003476.5(CSRP3):c.156T>A (p.His52Gln)
|
rs1020735963
|
|
|
NM_003476.5(CSRP3):c.156T>C (p.His52=)
|
rs1020735963
|
|
|
NM_003476.5(CSRP3):c.157G>A (p.Glu53Lys)
|
rs2494223594
|
|
|
NM_003476.5(CSRP3):c.159G>C (p.Glu53Asp)
|
rs1253887422
|
|
|
NM_003476.5(CSRP3):c.15C>A (p.Gly5=)
|
rs747959696
|
|
|
NM_003476.5(CSRP3):c.162G>T (p.Ser54=)
|
rs112848043
|
|
|
NM_003476.5(CSRP3):c.163G>A (p.Glu55Lys)
|
rs2494223567
|
|
|
NM_003476.5(CSRP3):c.165del (p.Ile56fs)
|
rs2133511280
|
|
|
NM_003476.5(CSRP3):c.174C>T (p.Cys58=)
|
rs1057520959
|
|
|
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu)
|
rs1431565691
|
|
|
NM_003476.5(CSRP3):c.181T>C (p.Cys61Arg)
|
rs866941870
|
|
|
NM_003476.5(CSRP3):c.182G>A (p.Cys61Tyr)
|
rs2494223507
|
|
|
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)
|
rs2494223496
|
|
|
NM_003476.5(CSRP3):c.187G>T (p.Gly63Trp)
|
rs2494223488
|
|
|
NM_003476.5(CSRP3):c.189G>A (p.Gly63=)
|
|
|
|
NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser)
|
rs368392588
|
|
|
NM_003476.5(CSRP3):c.196T>A (p.Tyr66Asn)
|
rs1319244603
|
|
|
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys)
|
rs397516854
|
|
|
NM_003476.5(CSRP3):c.198T>C (p.Tyr66=)
|
rs779421059
|
|
|
NM_003476.5(CSRP3):c.201C>A (p.Gly67=)
|
rs557643642
|
|
|
NM_003476.5(CSRP3):c.216G>T (p.Gly72=)
|
rs751348376
|
|
|
NM_003476.5(CSRP3):c.222A>C (p.Gly74=)
|
rs762915899
|
|
|
NM_003476.5(CSRP3):c.223C>G (p.Gln75Glu)
|
rs776862812
|
|
|
NM_003476.5(CSRP3):c.229G>A (p.Ala77Thr)
|
rs746207
|
|
|
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser)
|
rs746207
|
|
|
NM_003476.5(CSRP3):c.231T>C (p.Ala77=)
|
rs1047686575
|
|
|
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val)
|
rs963128995
|
|
|
NM_003476.5(CSRP3):c.238C>G (p.Leu80Val)
|
rs779184695
|
|
|
NM_003476.5(CSRP3):c.238C>T (p.Leu80Phe)
|
rs779184695
|
|
|
NM_003476.5(CSRP3):c.240C>G (p.Leu80=)
|
rs771444930
|
|
|
NM_003476.5(CSRP3):c.255C>A (p.Gly85=)
|
rs752338221
|
|
|
NM_003476.5(CSRP3):c.264C>T (p.Leu88=)
|
rs758256351
|
|
|
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)
|
rs367827746
|
|
|
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys)
|
rs367827746
|
|
|
NM_003476.5(CSRP3):c.267C>T (p.Gly89=)
|
rs2133510984
|
|
|
NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro)
|
rs760832923
|
|
|
NM_003476.5(CSRP3):c.26A>C (p.Lys9Thr)
|
rs1352827887
|
|
|
NM_003476.5(CSRP3):c.270G>C (p.Leu90=)
|
rs774366633
|
|
|
NM_003476.5(CSRP3):c.273G>A (p.Gln91=)
|
rs1850556431
|
|
|
NM_003476.5(CSRP3):c.278A>C (p.Gln93Pro)
|
rs2133510956
|
|
|
NM_003476.5(CSRP3):c.279del (p.Gln93fs)
|
rs2494223132
|
|
|
NM_003476.5(CSRP3):c.27del (p.Lys9fs)
|
|
|
|
NM_003476.5(CSRP3):c.280C>G (p.Gln94Glu)
|
rs1163785853
|
|
|
NM_003476.5(CSRP3):c.281+17C>T
|
|
|
|
NM_003476.5(CSRP3):c.281+19C>A
|
|
|
|
NM_003476.5(CSRP3):c.281+2T>C
|
rs2494223112
|
|
|
NM_003476.5(CSRP3):c.282-15G>A
|
rs752833206
|
|
|
NM_003476.5(CSRP3):c.282-19A>G
|
rs961016614
|
|
|
NM_003476.5(CSRP3):c.282-3C>G
|
rs1554967570
|
|
|
NM_003476.5(CSRP3):c.282-5_285del
|
rs397516855
|
|
|
NM_003476.5(CSRP3):c.282G>T (p.Gln94His)
|
rs550097061
|
|
|
NM_003476.5(CSRP3):c.284C>G (p.Ser95Cys)
|
rs767477787
|
|
|
NM_003476.5(CSRP3):c.285C>A (p.Ser95=)
|
rs45483799
|
|
|
NM_003476.5(CSRP3):c.285C>T (p.Ser95=)
|
rs45483799
|
|
|
NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser)
|
rs774530670
|
|
|
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs)
|
rs960577385
|
|
|
NM_003476.5(CSRP3):c.289A>G (p.Lys97Glu)
|
|
|
|
NM_003476.5(CSRP3):c.28T>C (p.Cys10Arg)
|
rs2133516498
|
|
|
NM_003476.5(CSRP3):c.294G>C (p.Pro98=)
|
rs142832902
|
|
|
NM_003476.5(CSRP3):c.298C>A (p.Arg100Ser)
|
rs201214593
|
|
|
NM_003476.5(CSRP3):c.300C>G (p.Arg100=)
|
rs146290726
|
|
|
NM_003476.5(CSRP3):c.301T>A (p.Ser101Thr)
|
rs2494220490
|
|
|
NM_003476.5(CSRP3):c.304del (p.Val102fs)
|
|
|
|
NM_003476.5(CSRP3):c.319C>A (p.Pro107Thr)
|
rs1318623802
|
|
|
NM_003476.5(CSRP3):c.319C>T (p.Pro107Ser)
|
|
|
|
NM_003476.5(CSRP3):c.326A>G (p.Lys109Arg)
|
|
|
|
NM_003476.5(CSRP3):c.329del (p.Phe110fs)
|
rs2133508524
|
|
|
NM_003476.5(CSRP3):c.32G>A (p.Gly11Glu)
|
rs1196538543
|
|
|
NM_003476.5(CSRP3):c.332C>G (p.Thr111Ser)
|
rs1850524667
|
|
|
NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu)
|
rs753711278
|
|
|
NM_003476.5(CSRP3):c.335C>G (p.Ala112Gly)
|
rs753711278
|
|
|
NM_003476.5(CSRP3):c.335C>T (p.Ala112Val)
|
rs753711278
|
|
|
NM_003476.5(CSRP3):c.338A>T (p.Lys113Met)
|
|
|
|
NM_003476.5(CSRP3):c.345A>G (p.Gly115=)
|
rs2494220365
|
|
|
NM_003476.5(CSRP3):c.348G>A (p.Glu116=)
|
rs2133508450
|
|
|
NM_003476.5(CSRP3):c.349T>C (p.Ser117Pro)
|
rs1590103357
|
|
|
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)
|
rs876657767
|
|
|
NM_003476.5(CSRP3):c.354G>T (p.Glu118Asp)
|
rs876657767
|
|
|
NM_003476.5(CSRP3):c.358T>C (p.Cys120Arg)
|
rs2133508417
|
|
|
NM_003476.5(CSRP3):c.35C>G (p.Ala12Gly)
|
rs1188954940
|
|
|
NM_003476.5(CSRP3):c.360C>T (p.Cys120=)
|
|
|
|
NM_003476.5(CSRP3):c.362del (p.Pro121fs)
|
rs1565050709
|
|
|
NM_003476.5(CSRP3):c.36C>T (p.Ala12=)
|
rs2133516477
|
|
|
NM_003476.5(CSRP3):c.370G>A (p.Gly124Ser)
|
rs2494220283
|
|
|
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter)
|
rs1554967541
|
|
|
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
|
rs1850523074
|
|
|
NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter)
|
rs1850523074
|
|
|
NM_003476.5(CSRP3):c.377C>T (p.Ser126Leu)
|
rs1850523074
|
|
|
NM_003476.5(CSRP3):c.37T>C (p.Cys13Arg)
|
rs1257113692
|
|
|
NM_003476.5(CSRP3):c.381C>A (p.Val127=)
|
rs2133508364
|
|
|
NM_003476.5(CSRP3):c.385G>T (p.Ala129Ser)
|
rs2494220237
|
|
|
NM_003476.5(CSRP3):c.386C>G (p.Ala129Gly)
|
rs760292738
|
|
|
NM_003476.5(CSRP3):c.391G>C (p.Glu131Gln)
|
rs2494220217
|
|
|
NM_003476.5(CSRP3):c.396G>C (p.Lys132Asn)
|
|
|
|
NM_003476.5(CSRP3):c.397G>C (p.Val133Leu)
|
|
|
|
NM_003476.5(CSRP3):c.400A>G (p.Met134Val)
|
|
|
|
NM_003476.5(CSRP3):c.402G>A (p.Met134Ile)
|
rs2494220190
|
|
|
NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg)
|
rs1850522271
|
|
|
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln)
|
rs777883490
|
|
|
NM_003476.5(CSRP3):c.411C>A (p.Gly137=)
|
rs1411552973
|
|
|
NM_003476.5(CSRP3):c.414+1G>A
|
rs935867046
|
|
|
NM_003476.5(CSRP3):c.414+1G>C
|
|
|
|
NM_003476.5(CSRP3):c.414+1G>T
|
rs935867046
|
|
|
NM_003476.5(CSRP3):c.414+7C>A
|
rs2494220123
|
|
|
NM_003476.5(CSRP3):c.414+7C>T
|
rs2494220123
|
|
|
NM_003476.5(CSRP3):c.415-10T>A
|
rs2494218781
|
|
|
NM_003476.5(CSRP3):c.415-11G>T
|
rs886048097
|
|
|
NM_003476.5(CSRP3):c.415-16T>C
|
rs2133507025
|
|
|
NM_003476.5(CSRP3):c.415-18C>G
|
rs754190437
|
|
|
NM_003476.5(CSRP3):c.415-1G>A
|
rs775194825
|
|
|
NM_003476.5(CSRP3):c.415-2A>C
|
rs1850502742
|
|
|
NM_003476.5(CSRP3):c.415-3C>A
|
|
|
|
NM_003476.5(CSRP3):c.415-5C>T
|
|
|
|
NM_003476.5(CSRP3):c.415-6C>T
|
rs1850502872
|
|
|
NM_003476.5(CSRP3):c.415-7_415-6delinsTA
|
rs2133507010
|
|
|
NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu)
|
rs2133506962
|
|
|
NM_003476.5(CSRP3):c.437G>T (p.Arg146Leu)
|
rs377066670
|
|
|
NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg)
|
rs2133506925
|
|
|
NM_003476.5(CSRP3):c.443C>T (p.Ala148Val)
|
rs2133506914
|
|
|
NM_003476.5(CSRP3):c.444dup (p.Ile149fs)
|
|
|
|
NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu)
|
rs878854613
|
|
|
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs)
|
rs748393033
|
|
|
NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg)
|
rs1590102813
|
|
|
NM_003476.5(CSRP3):c.460C>G (p.Leu154Val)
|
rs2494218636
|
|
|
NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg)
|
rs1554967431
|
|
|
NM_003476.5(CSRP3):c.467C>T (p.Ser156Phe)
|
rs758379114
|
|
|
NM_003476.5(CSRP3):c.468del (p.Thr157fs)
|
rs2133506845
|
|
|
NM_003476.5(CSRP3):c.472A>C (p.Asn158His)
|
|
|
|
NM_003476.5(CSRP3):c.475G>A (p.Val159Ile)
|
|
|
|
NM_003476.5(CSRP3):c.479C>A (p.Thr160Asn)
|
rs2494218580
|
|
|
NM_003476.5(CSRP3):c.480T>C (p.Thr160=)
|
rs2133506829
|
|
|
NM_003476.5(CSRP3):c.481G>A (p.Asp161Asn)
|
rs138254181
|
|
|
NM_003476.5(CSRP3):c.490G>A (p.Gly164Arg)
|
rs2133506813
|
|
|
NM_003476.5(CSRP3):c.492G>A (p.Gly164=)
|
|
|
|
NM_003476.5(CSRP3):c.494A>C (p.Glu165Ala)
|
|
|
|
NM_003476.5(CSRP3):c.49_55del (p.Val17fs)
|
rs776444956
|
|
|
NM_003476.5(CSRP3):c.49del (p.Val17fs)
|
rs869025378
|
|
|
NM_003476.5(CSRP3):c.508+17A>G
|
rs373822409
|
|
|
NM_003476.5(CSRP3):c.508+5G>C
|
rs2133506773
|
|
|
NM_003476.5(CSRP3):c.508+7G>T
|
rs2494218490
|
|
|
NM_003476.5(CSRP3):c.508+9_508+15dup
|
rs1850500120
|
|
|
NM_003476.5(CSRP3):c.508G>C (p.Val170Leu)
|
|
|
|
NM_003476.5(CSRP3):c.509-3_509-2del
|
rs397516858
|
|
|
NM_003476.5(CSRP3):c.509-5C>T
|
rs1447306323
|
|
|
NM_003476.5(CSRP3):c.509-8A>G
|
rs2133503964
|
|
|
NM_003476.5(CSRP3):c.50T>A (p.Val17Asp)
|
rs1060500131
|
|
|
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs)
|
rs1336937886
|
|
|
NM_003476.5(CSRP3):c.514T>C (p.Tyr172His)
|
rs1850457848
|
|
|
NM_003476.5(CSRP3):c.516T>A (p.Tyr172Ter)
|
rs727504575
|
|
|
NM_003476.5(CSRP3):c.518C>T (p.Ala173Val)
|
rs1175934112
|
|
|
NM_003476.5(CSRP3):c.51C>A (p.Val17=)
|
rs1590106196
|
|
|
NM_003476.5(CSRP3):c.524A>G (p.Asn175Ser)
|
rs370147131
|
|
|
NM_003476.5(CSRP3):c.524dup (p.Asn175fs)
|
rs1554967256
|
|
|
NM_003476.5(CSRP3):c.532C>G (p.Pro178Ala)
|
rs749002955
|
|
|
NM_003476.5(CSRP3):c.533C>T (p.Pro178Leu)
|
rs767944340
|
|
|
NM_003476.5(CSRP3):c.536C>A (p.Thr179Lys)
|
|
|
|
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val)
|
rs727504899
|
|
|
NM_003476.5(CSRP3):c.542T>C (p.Ile181Thr)
|
rs1565049312
|
|
|
NM_003476.5(CSRP3):c.54C>A (p.Tyr18Ter)
|
|
|
|
NM_003476.5(CSRP3):c.551G>A (p.Gly184Glu)
|
rs943580857
|
|
|
NM_003476.5(CSRP3):c.553G>A (p.Gly185Ser)
|
rs2494214690
|
|
|
NM_003476.5(CSRP3):c.55del (p.His19fs)
|
rs1554968138
|
|
|
NM_003476.5(CSRP3):c.562C>G (p.Gln188Glu)
|
rs2133503835
|
|
|
NM_003476.5(CSRP3):c.562CAA[1] (p.Gln189del)
|
rs1173035411
|
|
|
NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln)
|
rs571722496
|
|
|
NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg)
|
rs774359383
|
|
|
NM_003476.5(CSRP3):c.5C>A (p.Pro2Gln)
|
rs762730416
|
|
|
NM_003476.5(CSRP3):c.64del (p.Glu22fs)
|
rs2494229088
|
|
|
NM_003476.5(CSRP3):c.72del (p.Gln24fs)
|
rs766395852
|
|
|
NM_003476.5(CSRP3):c.73T>A (p.Cys25Ser)
|
rs2133516363
|
|
|
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp)
|
rs1408098337
|
|
|
NM_003476.5(CSRP3):c.78T>G (p.Asn26Lys)
|
rs909246685
|
|
|
NM_003476.5(CSRP3):c.82_85del (p.Arg28fs)
|
rs2133516329
|
|
|
NM_003476.5(CSRP3):c.85A>C (p.Ser29Arg)
|
|
|
|
NM_003476.5(CSRP3):c.88T>C (p.Phe30Leu)
|
rs2133516315
|
|
|
NM_003476.5(CSRP3):c.93C>G (p.His31Gln)
|
rs863225265
|
|
|
NM_003476.5(CSRP3):c.95A>G (p.Lys32Arg)
|
rs2133516292
|
|
|
NM_003476.5(CSRP3):c.9C>G (p.Asn3Lys)
|
|
|