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.1790G>A (p.Arg597Gln)
|
rs727503195
|
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.1828G>C (p.Asp610His)
|
rs371564200
|
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.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.3064C>T (p.Arg1022Cys)
|
rs397515999
|
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.2012_2013insGG (p.Pro672fs)
|
rs2095886347
|
0.00001
|
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs)
|
rs774521272
|
0.00001
|
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp)
|
rs1163861044
|
0.00001
|
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln)
|
rs397515964
|
0.00001
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.2865del (p.Val956fs)
|
rs2095880935
|
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.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.747C>A (p.Cys249Ter)
|
rs771929829
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NC_000011.10:g.(?_47331845)_(47336011_?)del
|
|
|
NC_000011.10:g.(?_47331851)_(47348561_?)del
|
|
|
NC_000011.10:g.(?_47331851)_(47352667_?)del
|
|
|
NC_000011.10:g.(?_47332546)_(47334030_?)del
|
|
|
NC_000011.10:g.(?_47335857)_(47338759_?)del
|
|
|
NC_000011.10:g.(?_47347406)_(47352667_?)del
|
|
|
NC_000011.10:g.(?_47348566)_(47351515_?)del
|
|
|
NC_000011.10:g.(?_47349774)_(47351505_?)del
|
|
|
NC_000011.10:g.47335210del
|
rs2142853045
|
|
NC_000011.10:g.47336007_47336016del
|
|
|
NC_000011.10:g.47336012del
|
|
|
NC_000011.10:g.47350113del
|
rs771005018
|
|
NC_000011.9:g.(?_47353422)_(47356780_?)del
|
|
|
NC_000011.9:g.(?_47353958)_(47355505_?)del
|
|
|
NC_000011.9:g.(?_47353958)_47355505del
|
|
|
NC_000011.9:g.(?_47357408)_(47360250_?)del
|
|
|
NC_000011.9:g.(?_47357408)_(47374198_?)del
|
|
|
NC_000011.9:g.(?_47357416)_(47360310_?)del
|
|
|
NC_000011.9:g.(?_47360865)_(47369466_?)del
|
|
|
NC_000011.9:g.(?_47363401)_47367757del
|
|
|
NC_000011.9:g.(?_47364109)_(47374198_?)del
|
|
|
NC_000011.9:g.(?_47364119)_(47374208_?)del
|
|
|
NC_000011.9:g.(?_47371305)_(47374198_?)del
|
|
|
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.1020del (p.Gln339_Tyr340insTer)
|
|
|
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs)
|
rs730880686
|
|
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)
|
rs730880336
|
|
NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs)
|
rs2142864164
|
|
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs)
|
|
|
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>C
|
|
|
NM_000256.3(MYBPC3):c.1090+1G>T
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1091-?_2308+?del
|
|
|
NM_000256.3(MYBPC3):c.1096C>T (p.Gln366Ter)
|
|
|
NM_000256.3(MYBPC3):c.1116dup (p.Tyr373fs)
|
|
|
NM_000256.3(MYBPC3):c.1119C>G (p.Tyr373Ter)
|
rs2095891411
|
|
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)
|
rs730880635
|
|
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs)
|
rs2095891398
|
|
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs)
|
rs2142869736
|
|
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs)
|
rs869025465
|
|
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs)
|
rs730880724
|
|
NM_000256.3(MYBPC3):c.1174del (p.Ala392fs)
|
rs1565628486
|
|
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter)
|
rs1233894123
|
|
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)
|
rs2142862199
|
|
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)
|
rs727504329
|
|
NM_000256.3(MYBPC3):c.1223+1G>T
|
rs730880639
|
|
NM_000256.3(MYBPC3):c.1223+2T>C
|
rs730880641
|
|
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.1236dup (p.Glu413Ter)
|
rs397515894
|
|
NM_000256.3(MYBPC3):c.124_127del (p.Trp42fs)
|
rs730880659
|
|
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs)
|
rs2142861729
|
|
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter)
|
rs397515895
|
|
NM_000256.3(MYBPC3):c.1277_1298del (p.Cys426fs)
|
|
|
NM_000256.3(MYBPC3):c.1278C>A (p.Cys426Ter)
|
rs746770543
|
|
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)
|
rs1432810664
|
|
NM_000256.3(MYBPC3):c.1310del (p.Val437fs)
|
rs397515896
|
|
NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs)
|
rs1595846475
|
|
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs)
|
rs727505152
|
|
NM_000256.3(MYBPC3):c.1351+1G>A
|
rs727503204
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1351G>C (p.Glu451Gln)
|
rs786204338
|
|
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter)
|
rs786204338
|
|
NM_000256.3(MYBPC3):c.1353del (p.Glu451fs)
|
rs2142861512
|
|
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)
|
rs727503203
|
|
NM_000256.3(MYBPC3):c.1359del (p.Val454fs)
|
rs863225271
|
|
NM_000256.3(MYBPC3):c.1364_1374del (p.Leu455fs)
|
rs2142861454
|
|
NM_000256.3(MYBPC3):c.1364del (p.Leu455fs)
|
|
|
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs)
|
rs786204339
|
|
NM_000256.3(MYBPC3):c.1378_1379dup (p.Leu460fs)
|
|
|
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)
|
rs730880538
|
|
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp)
|
rs1595846365
|
|
NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter)
|
rs1415753419
|
|
NM_000256.3(MYBPC3):c.1422del (p.Glu474fs)
|
rs1565628062
|
|
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
|
rs1595846344
|
|
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs)
|
rs876657703
|
|
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter)
|
rs730880541
|
|
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)
|
rs730880542
|
|
NM_000256.3(MYBPC3):c.1458-1G>A
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1458-1G>T
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.1460_1624+67del
|
|
|
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.1504del (p.Arg502fs)
|
rs1555122188
|
|
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)
|
rs730880544
|
|
NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter)
|
rs730880545
|
|
NM_000256.3(MYBPC3):c.1569del (p.His524fs)
|
rs2095889902
|
|
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs)
|
rs1555122156
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter)
|
rs397515910
|
|
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs)
|
rs730880640
|
|
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter)
|
rs2142860830
|
|
NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs)
|
rs2095889815
|
|
NM_000256.3(MYBPC3):c.1624+1G>A
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+1G>C
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+1G>T
|
rs1252584025
|
|
NM_000256.3(MYBPC3):c.1624+2T>C
|
rs111437311
|
|
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter)
|
rs121909374
|
|
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs)
|
rs727504248
|
|
NM_000256.3(MYBPC3):c.162del (p.Lys54fs)
|
rs864622224
|
|
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs)
|
rs878853831
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter)
|
rs1565627615
|
|
NM_000256.3(MYBPC3):c.165C>G (p.Tyr55Ter)
|
|
|
NM_000256.3(MYBPC3):c.1666del (p.Val556fs)
|
|
|
NM_000256.3(MYBPC3):c.1699G>T (p.Glu567Ter)
|
|
|
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)
|
rs727503197
|
|
NM_000256.3(MYBPC3):c.1724del (p.Gly575fs)
|
|
|
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs)
|
rs1565627536
|
|
NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter)
|
rs2095889156
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs)
|
rs730880646
|
|
NM_000256.3(MYBPC3):c.1755del (p.Asp587fs)
|
rs1595845888
|
|
NM_000256.3(MYBPC3):c.1775dup (p.Ser593fs)
|
|
|
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs)
|
rs730880713
|
|
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
|
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.178G>T (p.Glu60Ter)
|
rs1410935154
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
NM_000256.3(MYBPC3):c.1790+1G>C
|
|
|
NM_000256.3(MYBPC3):c.1792delG
|
rs730880647
|
|
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs)
|
rs397515926
|
|
NM_000256.3(MYBPC3):c.1808_1821del (p.Ile603fs)
|
|
|
NM_000256.3(MYBPC3):c.1816_1842del (p.Val606_Tyr614del)
|
rs1595845565
|
|
NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs)
|
rs2142859359
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.182del (p.Gly61fs)
|
rs730880663
|
|
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter)
|
rs730880555
|
|
NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs)
|
rs2142859289
|
|
NM_000256.3(MYBPC3):c.1842del (p.Asp613_Tyr614insTer)
|
|
|
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)
|
rs397515932
|
|
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.1903A>T (p.Lys635Ter)
|
rs2142859071
|
|
NM_000256.3(MYBPC3):c.1922_1923del (p.Arg641fs)
|
rs2095887873
|
|
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)
|
rs727504293
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
|
|
|
NM_000256.3(MYBPC3):c.1953C>A (p.Cys651Ter)
|
rs936188645
|
|
NM_000256.3(MYBPC3):c.1960dup (p.Arg654fs)
|
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs)
|
rs1565626409
|
|
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)
|
rs397515943
|
|
NM_000256.3(MYBPC3):c.2047del (p.Trp683fs)
|
|
|
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter)
|
rs397515942
|
|
NM_000256.3(MYBPC3):c.2063del (p.Thr688fs)
|
|
|
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)
|
rs863224483
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
NM_000256.3(MYBPC3):c.2071_2072del (p.Gly690_Asn691insTer)
|
rs2142857362
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs)
|
rs397515948
|
|
NM_000256.3(MYBPC3):c.2130del (p.Glu710fs)
|
|
|
NM_000256.3(MYBPC3):c.2149-1G>A
|
rs727504334
|
|
NM_000256.3(MYBPC3):c.2149-2del
|
rs1555121488
|
|
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs)
|
rs730880362
|
|
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter)
|
rs730880696
|
|
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter)
|
rs397515954
|
|
NM_000256.3(MYBPC3):c.218del (p.Pro73fs)
|
|
|
NM_000256.3(MYBPC3):c.2195del (p.Asp732fs)
|
|
|
NM_000256.3(MYBPC3):c.221C>TT
|
rs1555123743
|
|
NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs)
|
rs730880650
|
|
NM_000256.3(MYBPC3):c.2230_2233del (p.Glu744fs)
|
|
|
NM_000256.3(MYBPC3):c.2236G>T (p.Glu746Ter)
|
|
|
NM_000256.3(MYBPC3):c.2240_2245delinsCCTTC (p.Gly747fs)
|
rs2095884984
|
|
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys)
|
rs1060501474
|
|
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs)
|
rs730880651
|
|
NM_000256.3(MYBPC3):c.2279del (p.Asp760fs)
|
rs1060501478
|
|
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
|
|
|
NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs)
|
rs1565625777
|
|
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.2334del (p.Lys779fs)
|
rs1057518030
|
|
NM_000256.3(MYBPC3):c.2334dup (p.Lys779fs)
|
rs1057518030
|
|
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)
|
rs863225106
|
|
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)
|
rs863225112
|
|
NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs)
|
rs1565625473
|
|
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter)
|
rs730880698
|
|
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer)
|
rs730880664
|
|
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)
|
rs730880714
|
|
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter)
|
rs727504864
|
|
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)
|
rs730880341
|
|
NM_000256.3(MYBPC3):c.2413+1G>A
|
rs1595843828
|
|
NM_000256.3(MYBPC3):c.2416dup (p.Tyr806fs)
|
|
|
NM_000256.3(MYBPC3):c.2436_2437delinsTT (p.Lys812_Lys813delinsAsnTer)
|
|
|
NM_000256.3(MYBPC3):c.2438del (p.Lys813fs)
|
rs1595843758
|
|
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.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2460del (p.Arg820_Leu821insTer)
|
|
|
NM_000256.3(MYBPC3):c.2469del (p.Phe823fs)
|
|
|
NM_000256.3(MYBPC3):c.2494G>T (p.Glu832Ter)
|
rs2142855351
|
|
NM_000256.3(MYBPC3):c.25+1G>A
|
rs113709679
|
|
NM_000256.3(MYBPC3):c.25+1G>C
|
|
|
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
|
|
|
NM_000256.3(MYBPC3):c.2510_2513del (p.Ile837fs)
|
rs2095883508
|
|
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)
|
rs730880653
|
|
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter)
|
rs397515969
|
|
NM_000256.3(MYBPC3):c.2512dup (p.Glu838fs)
|
rs1219930764
|
|
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)
|
rs397515970
|
|
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.2526del (p.Val841_Tyr842insTer)
|
rs1595843640
|
|
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs)
|
rs2095900581
|
|
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs)
|
rs730880654
|
|
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)
|
rs397515973
|
|
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)
|
rs397515974
|
|
NM_000256.3(MYBPC3):c.2545_2550delinsTCAT (p.Val849fs)
|
|
|
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)
|
rs863225105
|
|
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.2560_2570del (p.Met854fs)
|
rs2095883336
|
|
NM_000256.3(MYBPC3):c.2568del (p.Arg856fs)
|
rs1555121172
|
|
NM_000256.3(MYBPC3):c.256del (p.Ser86fs)
|
|
|
NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs)
|
rs1060501481
|
|
NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs)
|
rs1595843549
|
|
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs)
|
rs2142855105
|
|
NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs)
|
rs1064792936
|
|
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
|
|
|
NM_000256.3(MYBPC3):c.2604_2607del (p.Pro870fs)
|
|
|
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs)
|
rs730880655
|
|
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
|
|
|
NM_000256.3(MYBPC3):c.2645_2646del (p.Val881_Ser882insTer)
|
|
|
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.2709_2719del (p.Tyr904fs)
|
rs730880657
|
|
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter)
|
rs1555120920
|
|
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter)
|
rs886038822
|
|
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
|
|
|
NM_000256.3(MYBPC3):c.2738-2A>G
|
|
|
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs)
|
rs730880660
|
|
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)
|
rs727504349
|
|
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter)
|
rs730880576
|
|
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs)
|
rs1057517766
|
|
NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter)
|
rs367729718
|
|
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer)
|
rs2142853009
|
|
NM_000256.3(MYBPC3):c.2770_2857dup (p.Gly953fs)
|
|
|
NM_000256.3(MYBPC3):c.2774_2775del (p.Glu925fs)
|
|
|
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs)
|
rs727504265
|
|
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)
|
rs876657705
|
|
NM_000256.3(MYBPC3):c.2801dup (p.Pro935fs)
|
|
|
NM_000256.3(MYBPC3):c.2812del (p.Ala938fs)
|
rs2142852944
|
|
NM_000256.3(MYBPC3):c.2825_2826delinsAA (p.Phe942Ter)
|
|
|
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)
|
rs397515987
|
|
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs)
|
rs786204352
|
|
NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG (p.Gly953fs)
|
rs2142852868
|
|
NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs)
|
rs1565624090
|
|
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.2905+2T>A
|
rs2095880858
|
|
NM_000256.3(MYBPC3):c.2905+2T>C
|
|
|
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)
|
rs397515992
|
|
NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter)
|
rs868819340
|
|
NM_000256.3(MYBPC3):c.2936_2939del (p.Leu979fs)
|
|
|
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs)
|
rs397515995
|
|
NM_000256.3(MYBPC3):c.2948_2951del (p.Ile983fs)
|
|
|
NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter)
|
rs1555120651
|
|
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter)
|
rs727504423
|
|
NM_000256.3(MYBPC3):c.2980del (p.Leu994fs)
|
rs2142851880
|
|
NM_000256.3(MYBPC3):c.2981del (p.Leu994fs)
|
|
|
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs)
|
|
|
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)
|
rs11570112
|
|
NM_000256.3(MYBPC3):c.2995-1G>A
|
rs730880584
|
|
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)
|
rs1565631430
|
|
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
|
rs2095879705
|
|
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)
|
rs730880586
|
|
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs)
|
rs397515997
|
|
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs)
|
rs1555123633
|
|
NM_000256.3(MYBPC3):c.3079G>AA
|
rs730880666
|
|
NM_000256.3(MYBPC3):c.309_321dup (p.Pro108fs)
|
rs2095899755
|
|
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs)
|
rs1060501475
|
|
NM_000256.3(MYBPC3):c.310del (p.Leu104fs)
|
rs1565631428
|
|
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
|
rs1064793202
|
|
NM_000256.3(MYBPC3):c.3124del (p.Thr1042fs)
|
rs2142851443
|
|
NM_000256.3(MYBPC3):c.3127dup (p.Tyr1043fs)
|
|
|
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter)
|
rs573821685
|
|
NM_000256.3(MYBPC3):c.3129C>G (p.Tyr1043Ter)
|
rs573821685
|
|
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer)
|
|
|
NM_000256.3(MYBPC3):c.313del (p.Ala105fs)
|
rs1565631424
|
|
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter)
|
rs869025461
|
|
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs)
|
rs727503174
|
|
NM_000256.3(MYBPC3):c.317del (p.Pro106fs)
|
rs1555123629
|
|
NM_000256.3(MYBPC3):c.318del (p.Ala107fs)
|
rs2142868794
|
|
NM_000256.3(MYBPC3):c.3190+1del
|
rs2142851321
|
|
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)
|
rs397516007
|
|
NM_000256.3(MYBPC3):c.3211del (p.Asp1071fs)
|
|
|
NM_000256.3(MYBPC3):c.3215_3216insG (p.Arg1073fs)
|
rs2142851045
|
|
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)
|
rs730880668
|
|
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs)
|
rs1555120529
|
|
NM_000256.3(MYBPC3):c.3231dup (p.Trp1078fs)
|
rs2142850980
|
|
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)
|
rs397516006
|
|
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter)
|
rs866966651
|
|
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
|
|
|
NM_000256.3(MYBPC3):c.324del (p.Ala109fs)
|
rs730880721
|
|
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.3294G>A (p.Trp1098Ter)
|
rs767039057
|
|
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)
|
rs397516014
|
|
NM_000256.3(MYBPC3):c.329del (p.Pro110fs)
|
|
|
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)
|
rs863225113
|
|
NM_000256.3(MYBPC3):c.3302_3308del (p.Thr1101fs)
|
rs2142850807
|
|
NM_000256.3(MYBPC3):c.3309_3328del (p.Gln1103fs)
|
rs2142850741
|
|
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
|
rs730880672
|
|
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs)
|
rs2142850736
|
|
NM_000256.3(MYBPC3):c.3330+1G>T
|
rs1298025872
|
|
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.3332_3335dup (p.Trp1112Ter)
|
rs730880337
|
|
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)
|
rs727504276
|
|
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter)
|
rs1565622952
|
|
NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter)
|
rs1565622952
|
|
NM_000256.3(MYBPC3):c.3359dup (p.Arg1121fs)
|
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.3382_3388del (p.Glu1128fs)
|
|
|
NM_000256.3(MYBPC3):c.3402del (p.Tyr1135fs)
|
|
|
NM_000256.3(MYBPC3):c.3408C>G (p.Tyr1136Ter)
|
rs193922383
|
|
NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter)
|
rs2142850286
|
|
NM_000256.3(MYBPC3):c.3440_3441del (p.Gly1146_Phe1147insTer)
|
|
|
NM_000256.3(MYBPC3):c.3466G>T (p.Glu1156Ter)
|
|
|
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs)
|
|
|
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs)
|
rs730880720
|
|
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs)
|
rs730880675
|
|
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.3512del (p.Asn1171fs)
|
rs876657706
|
|
NM_000256.3(MYBPC3):c.3523dup (p.Leu1175fs)
|
|
|
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)
|
rs730880699
|
|
NM_000256.3(MYBPC3):c.3560del (p.Leu1187fs)
|
rs2095878299
|
|
NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs)
|
rs1595841063
|
|
NM_000256.3(MYBPC3):c.3572C>A (p.Ser1191Ter)
|
rs761545914
|
|
NM_000256.3(MYBPC3):c.3595_3596del (p.Met1199fs)
|
|
|
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs)
|
rs727504271
|
|
NM_000256.3(MYBPC3):c.3600_3609dup (p.Val1204fs)
|
|
|
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)
|
rs1060501484
|
|
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)
|
rs397516029
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
NM_000256.3(MYBPC3):c.3627+2T>G
|
rs1299079662
|
|
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.3662del (p.Leu1221fs)
|
rs863225107
|
|
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter)
|
rs730880598
|
|
NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs)
|
rs1060501480
|
|
NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs)
|
rs2142849434
|
|
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer)
|
|
|
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs)
|
rs2142849399
|
|
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
|
|
|
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs)
|
rs1064796231
|
|
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter)
|
rs730880600
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer)
|
rs1057517767
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del)
|
rs730880676
|
|
NM_000256.3(MYBPC3):c.3746del (p.Gly1249fs)
|
rs2142849315
|
|
NM_000256.3(MYBPC3):c.3748del (p.Ile1250fs)
|
|
|
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs)
|
rs2095877711
|
|
NM_000256.3(MYBPC3):c.3752dup (p.Tyr1251Ter)
|
|
|
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter)
|
rs397516039
|
|
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs)
|
rs2095877685
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter)
|
rs730880604
|
|
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter)
|
rs730880604
|
|
NM_000256.3(MYBPC3):c.3779del (p.Gly1260fs)
|
|
|
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs)
|
rs1595840648
|
|
NM_000256.3(MYBPC3):c.395dup (p.Ser133fs)
|
|
|
NM_000256.3(MYBPC3):c.401_405del (p.Pro134fs)
|
|
|
NM_000256.3(MYBPC3):c.403A>T (p.Lys135Ter)
|
rs2142868665
|
|
NM_000256.3(MYBPC3):c.405del (p.Ser137fs)
|
rs1555123597
|
|
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs)
|
rs1555123597
|
|
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter)
|
rs730880703
|
|
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter)
|
rs730880704
|
|
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs)
|
rs397516047
|
|
NM_000256.3(MYBPC3):c.440del (p.Pro147fs)
|
rs1595849931
|
|
NM_000256.3(MYBPC3):c.450del (p.Asp151fs)
|
rs730880677
|
|
NM_000256.3(MYBPC3):c.451del (p.Asp151fs)
|
|
|
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.462del (p.Ile154fs)
|
|
|
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs)
|
rs730880366
|
|
NM_000256.3(MYBPC3):c.480del (p.Pro161fs)
|
rs1555123496
|
|
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)
|
rs730880618
|
|
NM_000256.3(MYBPC3):c.506-1G>A
|
rs397516056
|
|
NM_000256.3(MYBPC3):c.506-2A>C
|
rs397516057
|
|
NM_000256.3(MYBPC3):c.506-3_506dup
|
rs1555123438
|
|
NM_000256.3(MYBPC3):c.514dup (p.Ile172fs)
|
rs2142867855
|
|
NM_000256.3(MYBPC3):c.529del (p.Arg177fs)
|
|
|
NM_000256.3(MYBPC3):c.533del (p.Val178fs)
|
rs727503217
|
|
NM_000256.3(MYBPC3):c.537_540del (p.Gly180fs)
|
rs2142867804
|
|
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)
|
rs397516059
|
|
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)
|
rs375607980
|
|
NM_000256.3(MYBPC3):c.554del (p.Lys185fs)
|
rs2095898569
|
|
NM_000256.3(MYBPC3):c.565del (p.Val189fs)
|
rs2142867765
|
|
NM_000256.3(MYBPC3):c.568_569del (p.Lys190fs)
|
rs2095898532
|
|
NM_000256.3(MYBPC3):c.569del (p.Lys190fs)
|
|
|
NM_000256.3(MYBPC3):c.573G>A (p.Trp191Ter)
|
|
|
NM_000256.3(MYBPC3):c.586del (p.Trp196fs)
|
rs730880681
|
|
NM_000256.3(MYBPC3):c.603del (p.Ser201fs)
|
|
|
NM_000256.3(MYBPC3):c.611_618delinsT (p.Gly204fs)
|
|
|
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)
|
rs397516061
|
|
NM_000256.3(MYBPC3):c.619dup (p.Leu207fs)
|
|
|
NM_000256.3(MYBPC3):c.623_626dup (p.His210fs)
|
|
|
NM_000256.3(MYBPC3):c.627_637del (p.His210fs)
|
rs1555123389
|
|
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg)
|
rs397516062
|
|
NM_000256.3(MYBPC3):c.653del (p.Lys218fs)
|
|
|
NM_000256.3(MYBPC3):c.655-1G>A
|
rs397516067
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs)
|
rs1060501479
|
|
NM_000256.3(MYBPC3):c.660del (p.Leu221fs)
|
|
|
NM_000256.3(MYBPC3):c.669del (p.Glu223fs)
|
|
|
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)
|
rs786204329
|
|
NM_000256.3(MYBPC3):c.681del (p.Asp228fs)
|
rs2095896870
|
|
NM_000256.3(MYBPC3):c.688C>T (p.Gln230Ter)
|
|
|
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser)
|
rs397516070
|
|
NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs)
|
rs2142866256
|
|
NM_000256.3(MYBPC3):c.743_746del (p.Asp248fs)
|
|
|
NM_000256.3(MYBPC3):c.772+1G>A
|
rs397516072
|
|
NM_000256.3(MYBPC3):c.772G>T (p.Glu258Ter)
|
|
|
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter)
|
rs373730381
|
|
NM_000256.3(MYBPC3):c.803dup (p.Ser269fs)
|
|
|
NM_000256.3(MYBPC3):c.821+1G>C
|
rs397516073
|
|
NM_000256.3(MYBPC3):c.821+1G>T
|
rs397516073
|
|
NM_000256.3(MYBPC3):c.821+2T>A
|
rs397516076
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
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.887_891del (p.Ser296fs)
|
rs2142865197
|
|
NM_000256.3(MYBPC3):c.890C>G (p.Ser297Ter)
|
rs2142865199
|
|
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.927-10C>A
|
rs201078659
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter)
|
rs2142864321
|
|
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)
|
rs727503211
|
|
NM_000256.3(MYBPC3):c.989del (p.Pro330fs)
|
|
|
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs)
|
rs745811346
|
|
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter)
|
rs727503209
|
|
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter)
|
rs367947846
|
|
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)
|
rs367947846
|
|
Single allele
|
|
|