NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
|
rs397516005
|
0.00003
|
NM_000256.3(MYBPC3):c.927-2A>G
|
rs397516082
|
0.00003
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)
|
rs397515890
|
0.00001
|
NM_000256.3(MYBPC3):c.1223+1G>A
|
rs730880639
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-2A>G
|
rs730880531
|
0.00001
|
NM_000256.3(MYBPC3):c.1458-1G>C
|
rs397515903
|
0.00001
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+2T>G
|
rs113358486
|
0.00001
|
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)
|
rs397516008
|
0.00001
|
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter)
|
rs397516010
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)
|
rs193922383
|
0.00001
|
NM_000256.3(MYBPC3):c.3490+1G>T
|
rs397516020
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)
|
rs397516049
|
0.00001
|
NM_000256.3(MYBPC3):c.655-2A>C
|
rs1219818351
|
0.00001
|
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe)
|
rs397516068
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)
|
rs573916965
|
|
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter)
|
rs730880631
|
|
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs)
|
rs730880686
|
|
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)
|
rs730880336
|
|
NM_000256.3(MYBPC3):c.1069_1072delinsGC (p.Arg357fs)
|
rs730880687
|
|
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs)
|
rs730880723
|
|
NM_000256.3(MYBPC3):c.1090+1G>A
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1090+1G>T
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1090+2T>G
|
rs730880634
|
|
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)
|
rs1555122462
|
|
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)
|
rs730880635
|
|
NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs)
|
rs730880688
|
|
NM_000256.3(MYBPC3):c.1168del (p.His390fs)
|
rs397515889
|
|
NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter)
|
rs730880637
|
|
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)
|
rs727504329
|
|
NM_000256.3(MYBPC3):c.1223+2T>G
|
rs730880641
|
|
NM_000256.3(MYBPC3):c.1224-2A>G
|
rs397515891
|
|
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter)
|
rs730880533
|
|
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)
|
rs1432810664
|
|
NM_000256.3(MYBPC3):c.1351+1G>A
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351+1G>C
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)
|
rs727503203
|
|
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs)
|
rs786204339
|
|
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)
|
rs730880538
|
|
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)
|
rs886037900
|
|
NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter)
|
rs730880539
|
|
NM_000256.3(MYBPC3):c.1410_1411del (p.Val471fs)
|
rs730880642
|
|
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)
|
rs730880542
|
|
NM_000256.3(MYBPC3):c.1458-1G>A
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter)
|
rs1057517920
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1516del (p.Asp506fs)
|
rs2142861091
|
|
NM_000256.3(MYBPC3):c.1521del (p.Gln508fs)
|
rs1555122177
|
|
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)
|
rs730880544
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs)
|
rs730880712
|
|
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs)
|
rs730880640
|
|
NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs)
|
rs2095889815
|
|
NM_000256.3(MYBPC3):c.1621C>T (p.Gln541Ter)
|
rs1064794209
|
|
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs)
|
rs1555122143
|
|
NM_000256.3(MYBPC3):c.1624+1G>A
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+2T>C
|
rs111437311
|
|
NM_000256.3(MYBPC3):c.1624+5G>A
|
rs730880691
|
|
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter)
|
rs121909374
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)
|
rs727503197
|
|
NM_000256.3(MYBPC3):c.1701delinsACACCTTTGAAT (p.Glu567_Val568insHisLeuTer)
|
|
|
NM_000256.3(MYBPC3):c.172del (p.Ala58fs)
|
rs730880662
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs)
|
rs730880646
|
|
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs)
|
rs730880713
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.1791-1G>A
|
rs2142859427
|
|
NM_000256.3(MYBPC3):c.1791-2A>C
|
rs112179534
|
|
NM_000256.3(MYBPC3):c.1792delG
|
rs730880647
|
|
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)
|
rs397515926
|
|
NM_000256.3(MYBPC3):c.1806del (p.Ile603fs)
|
rs730880648
|
|
NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs)
|
rs764743402
|
|
NM_000256.3(MYBPC3):c.1823_1830delinsA (p.Pro608fs)
|
rs1555121924
|
|
NM_000256.3(MYBPC3):c.182del (p.Gly61fs)
|
rs730880663
|
|
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs)
|
rs730880649
|
|
NM_000256.3(MYBPC3):c.1892del (p.Phe631fs)
|
rs397515933
|
|
NM_000256.3(MYBPC3):c.1895del (p.Met632fs)
|
rs397515934
|
|
NM_000256.3(MYBPC3):c.1897+1G>A
|
rs397515935
|
|
NM_000256.3(MYBPC3):c.1898-1G>A
|
rs730880558
|
|
NM_000256.3(MYBPC3):c.1900del (p.Val634fs)
|
rs2142859074
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2058del (p.Ile687fs)
|
rs1064793642
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2148+1G>A
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
NM_000256.3(MYBPC3):c.2149-2A>G
|
rs2142856729
|
|
NM_000256.3(MYBPC3):c.2149-2del
|
rs1555121488
|
|
NM_000256.3(MYBPC3):c.2157_2158del (p.Cys719_Glu720delinsTer)
|
rs1064793429
|
|
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)
|
rs397515954
|
|
NM_000256.3(MYBPC3):c.2221del (p.Ala741fs)
|
rs730880650
|
|
NM_000256.3(MYBPC3):c.2250_2251insTAG (p.Val751Ter)
|
rs2142856590
|
|
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs)
|
rs730880651
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2308+1G>T
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)
|
rs397515960
|
|
NM_000256.3(MYBPC3):c.236dup (p.Tyr79Ter)
|
rs1057517939
|
|
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)
|
rs863225106
|
|
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter)
|
rs730880698
|
|
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter)
|
rs730880698
|
|
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer)
|
rs730880664
|
|
NM_000256.3(MYBPC3):c.2391C>G (p.Tyr797Ter)
|
rs727504864
|
|
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp)
|
rs730880566
|
|
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter)
|
rs1419032418
|
|
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)
|
rs397515965
|
|
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)
|
rs730880652
|
|
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)
|
rs730880653
|
|
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter)
|
rs373792537
|
|
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)
|
rs373792537
|
|
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)
|
rs397515975
|
|
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)
|
rs727503186
|
|
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs)
|
rs397515977
|
|
NM_000256.3(MYBPC3):c.2603-1G>C
|
rs977277400
|
|
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.2639_2642del (p.Asp880fs)
|
|
|
NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs)
|
rs1555120937
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs)
|
rs1555120927
|
|
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs)
|
rs730880657
|
|
NM_000256.3(MYBPC3):c.2716del (p.Val906fs)
|
rs886041320
|
|
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter)
|
rs1555120920
|
|
NM_000256.3(MYBPC3):c.2737+1G>A
|
rs727504314
|
|
NM_000256.3(MYBPC3):c.2737+1G>C
|
rs727504314
|
|
NM_000256.3(MYBPC3):c.2737del (p.Cys913fs)
|
rs730880658
|
|
NM_000256.3(MYBPC3):c.2744del (p.Glu915fs)
|
rs730880661
|
|
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)
|
rs727504349
|
|
NM_000256.3(MYBPC3):c.2749del (p.Val917fs)
|
rs2142853029
|
|
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)
|
rs727504265
|
|
NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs)
|
rs730880716
|
|
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)
|
rs397515987
|
|
NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs)
|
rs2142852888
|
|
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)
|
rs727503182
|
|
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)
|
rs730880578
|
|
NM_000256.3(MYBPC3):c.2905+1G>A
|
rs397515991
|
|
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)
|
rs397515992
|
|
NM_000256.3(MYBPC3):c.2906-2A>G
|
rs727504333
|
|
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)
|
rs727503180
|
|
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter)
|
rs727504423
|
|
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)
|
rs11570112
|
|
NM_000256.3(MYBPC3):c.2995-1G>A
|
rs730880584
|
|
NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)
|
rs730880701
|
|
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)
|
rs730880586
|
|
NM_000256.3(MYBPC3):c.3079G>AA
|
rs730880666
|
|
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
|
rs1064793202
|
|
NM_000256.3(MYBPC3):c.313del (p.Ala105fs)
|
rs1565631424
|
|
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter)
|
rs869025461
|
|
NM_000256.3(MYBPC3):c.3190+3del
|
rs730880667
|
|
NM_000256.3(MYBPC3):c.3191-3C>G
|
rs1064793891
|
|
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)
|
rs397516007
|
|
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)
|
rs397516006
|
|
NM_000256.3(MYBPC3):c.324del (p.Ala109fs)
|
rs730880721
|
|
NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter)
|
rs779650200
|
|
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs)
|
rs2142850930
|
|
NM_000256.3(MYBPC3):c.3258G>A (p.Trp1086Ter)
|
rs1595841552
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)
|
rs397516013
|
|
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)
|
rs397516014
|
|
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
|
rs730880672
|
|
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)
|
rs730880719
|
|
NM_000256.3(MYBPC3):c.3330+2T>C
|
rs387906397
|
|
NM_000256.3(MYBPC3):c.3330+5G>A
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)
|
rs727504276
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)
|
rs730880720
|
|
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs)
|
rs397516019
|
|
NM_000256.3(MYBPC3):c.3490+1G>A
|
rs397516020
|
|
NM_000256.3(MYBPC3):c.350del (p.Pro117fs)
|
rs397516023
|
|
NM_000256.3(MYBPC3):c.3514_3517dup (p.Lys1173delinsIleTer)
|
rs1555120309
|
|
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)
|
rs730880699
|
|
NM_000256.3(MYBPC3):c.357del (p.Ala120fs)
|
rs869025463
|
|
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp)
|
rs1057517769
|
|
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)
|
rs1060501484
|
|
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
NM_000256.3(MYBPC3):c.3627+2del
|
rs1555120258
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.362del (p.Pro121fs)
|
rs397516032
|
|
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)
|
rs730880597
|
|
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter)
|
rs730880598
|
|
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)
|
rs730880600
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter)
|
rs730880703
|
|
NM_000256.3(MYBPC3):c.453del (p.Asp151fs)
|
rs730880679
|
|
NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs)
|
rs730880680
|
|
NM_000256.3(MYBPC3):c.459del (p.Ile154fs)
|
rs397516052
|
|
NM_000256.3(MYBPC3):c.480del (p.Pro161fs)
|
rs1555123496
|
|
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)
|
rs397516053
|
|
NM_000256.3(MYBPC3):c.505+1G>A
|
rs730880620
|
|
NM_000256.3(MYBPC3):c.519del (p.Phe174fs)
|
rs1595849742
|
|
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)
|
rs397516059
|
|
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)
|
rs375607980
|
|
NM_000256.3(MYBPC3):c.586del (p.Trp196fs)
|
rs730880681
|
|
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)
|
rs397516061
|
|
NM_000256.3(MYBPC3):c.627_637del (p.His210fs)
|
rs1555123389
|
|
NM_000256.3(MYBPC3):c.654+1G>A
|
rs730880621
|
|
NM_000256.3(MYBPC3):c.655-1G>A
|
rs397516067
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)
|
rs786204329
|
|
NM_000256.3(MYBPC3):c.688del (p.Gln230fs)
|
rs2142866326
|
|
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)
|
rs397516070
|
|
NM_000256.3(MYBPC3):c.722dup (p.Ser242fs)
|
rs730880683
|
|
NM_000256.3(MYBPC3):c.772+1G>A
|
rs397516072
|
|
NM_000256.3(MYBPC3):c.806C>A (p.Ser269Ter)
|
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
NM_000256.3(MYBPC3):c.906-1G>A
|
rs587776700
|
|
NM_000256.3(MYBPC3):c.906-1G>C
|
rs587776700
|
|
NM_000256.3(MYBPC3):c.906-36G>A
|
rs864622197
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs)
|
rs730880678
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)
|
rs727503211
|
|
NM_000256.3(MYBPC3):c.978del (p.Gln327fs)
|
rs1064793536
|
|
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs)
|
rs745811346
|
|
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)
|
rs367947846
|
|
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)
|
rs367947846
|
|
Single allele
|
|
|