NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_001953.5(TYMP):c.1284T>A (p.Gly428=)
|
rs1138404
|
0.14075
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)
|
rs35364374
|
0.04719
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)
|
rs80356706
|
0.00035
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)
|
rs80358249
|
0.00016
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)
|
rs121913036
|
0.00005
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_001953.5(TYMP):c.215-1G>C
|
rs767245071
|
0.00004
|
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser)
|
rs121913040
|
0.00004
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
|
rs118192120
|
0.00003
|
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys)
|
rs866001342
|
0.00003
|
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)
|
rs762754992
|
0.00002
|
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)
|
rs80356704
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)
|
rs80356691
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)
|
rs118192141
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser)
|
rs1060499534
|
0.00001
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)
|
rs1064792861
|
0.00001
|
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)
|
rs121913038
|
0.00001
|
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro)
|
rs1064792870
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)
|
rs946234163
|
0.00001
|
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)
|
rs199474720
|
0.00001
|
NC_012920.1(MT-CO1):m.7023G>A
|
rs2124593767
|
|
NC_012920.1(MT-CO3):m.9957T>C
|
rs1556423753
|
|
NC_012920.1(MT-CYB):m.14864T>C
|
|
|
NC_012920.1(MT-CYB):m.1644G>A
|
rs587776441
|
|
NC_012920.1(MT-ND5):m.13528A>G
|
rs55882959
|
|
NC_012920.1(MT-TH):m.12146A>G
|
rs2124597054
|
|
NC_012920.1(MT-TK):m.8316T>C
|
|
|
NC_012920.1(MT-TL2):m.12299A>C
|
|
|
NC_012920.1(MT-TV):m.1642G>A
|
rs2124591032
|
|
NC_012920.1:m.13514A>G
|
rs587776440
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.3291T>C
|
rs869312463
|
|
NC_012920.1:m.3481G>A
|
rs587776433
|
|
NC_012920.1:m.8483_13459del4977
|
|
|
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)
|
rs80356694
|
|
NM_000083.3(CLCN1):c.2330del (p.Gly777fs)
|
rs80356707
|
|
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)
|
rs80356699
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro)
|
rs1246272841
|
|
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro)
|
rs730880806
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)
|
rs587779396
|
|
NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys)
|
rs797044598
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
|
rs118192126
|
|
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)
|
rs118192127
|
|
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)
|
rs118192117
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)
|
rs118192118
|
|
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)
|
rs118192129
|
|
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)
|
rs143849895
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)
|
rs118192132
|
|
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)
|
rs118192136
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)
|
rs118192142
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)
|
rs118192144
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)
|
rs118192147
|
|
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)
|
rs118192149
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)
|
rs118192148
|
|
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)
|
rs118192183
|
|
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
|
|
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)
|
rs118192184
|
|
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)
|
rs118192154
|
|
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)
|
rs118192155
|
|
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)
|
rs118192156
|
|
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])
|
rs193922893
|
|
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)
|
rs118192159
|
|
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)
|
rs118192119
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)
|
rs367543055
|
|
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala)
|
rs193922784
|
|
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu)
|
rs367543056
|
|
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)
|
rs118192115
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)
|
rs367543054
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)
|
rs193922821
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
NM_000540.3(RYR1):c.9000+1G>T
|
rs111364670
|
|
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)
|
rs367543057
|
|
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
|
rs121909531
|
|
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)
|
rs367543049
|
|
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)
|
rs367543048
|
|
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp)
|
rs367543050
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)
|
rs367543051
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
NM_001164508.2(NEB):c.7431+1919_7536+374del
|
|
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)
|
rs281864932
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)
|
rs281864931
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)
|
rs281864929
|
|
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)
|
rs281864933
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)
|
rs869320741
|
|
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)
|
rs786205367
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)
|
rs869320743
|
|
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)
|
rs104894201
|
|
NM_001289808.2(CRYAB):c.60del (p.Ser21fs)
|
rs281865141
|
|
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)
|
rs281865143
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)
|
rs121912942
|
|
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)
|
rs60538473
|
|
NM_001953.4(TYMP):c.929-3G>A
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs)
|
rs1064792892
|
|
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro)
|
rs1060499532
|
|
NM_001953.5(TYMP):c.1088del (p.Gly363fs)
|
rs1060499535
|
|
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro)
|
rs1060499533
|
|
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)
|
rs1054084896
|
|
NM_001953.5(TYMP):c.1159+2T>A
|
rs770277446
|
|
NM_001953.5(TYMP):c.1160-1G>C
|
rs797044455
|
|
NM_001953.5(TYMP):c.1160-2A>C
|
rs1064792877
|
|
NM_001953.5(TYMP):c.1160-2A>G
|
rs1064792877
|
|
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)
|
rs1064792873
|
|
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)
|
rs786205098
|
|
NM_001953.5(TYMP):c.1211dup (p.Gly405fs)
|
rs1556486467
|
|
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)
|
rs1064792874
|
|
NM_001953.5(TYMP):c.1300+2T>A
|
rs1064792879
|
|
NM_001953.5(TYMP):c.1301-1G>A
|
rs773785934
|
|
NM_001953.5(TYMP):c.1311del (p.Trp437fs)
|
rs1064792889
|
|
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)
|
rs28931613
|
|
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs)
|
rs1064792890
|
|
NM_001953.5(TYMP):c.1351dup (p.Gln451fs)
|
rs1556486029
|
|
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro)
|
rs764275775
|
|
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del)
|
rs1064792891
|
|
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter)
|
rs11479
|
|
NM_001953.5(TYMP):c.1431dup (p.Leu478fs)
|
rs1064792885
|
|
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)
|
rs1064792857
|
|
NM_001953.5(TYMP):c.162C>G (p.Ile54Met)
|
rs1064792858
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)
|
rs749827433
|
|
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)
|
rs749827433
|
|
NM_001953.5(TYMP):c.263_264del (p.Thr88fs)
|
rs1064792886
|
|
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)
|
rs891107196
|
|
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter)
|
rs1064792860
|
|
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)
|
rs1064792862
|
|
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu)
|
rs199901350
|
|
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)
|
rs1064792863
|
|
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro)
|
rs1064792864
|
|
NM_001953.5(TYMP):c.516+2T>C
|
rs797044454
|
|
NM_001953.5(TYMP):c.518T>G (p.Met173Arg)
|
rs1064792865
|
|
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)
|
rs1064792866
|
|
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys)
|
rs121913041
|
|
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)
|
rs121913041
|
|
NM_001953.5(TYMP):c.623T>G (p.Val208Gly)
|
rs1064792867
|
|
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser)
|
rs1064792868
|
|
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr)
|
rs1064792869
|
|
NM_001953.5(TYMP):c.720del (p.Val241fs)
|
rs1064792887
|
|
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer)
|
rs1064792888
|
|
NM_001953.5(TYMP):c.847C>G (p.His283Asp)
|
rs1064792871
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
NM_001953.5(TYMP):c.928+1G>A
|
rs1064792876
|
|
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg)
|
rs121913040
|
|
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys)
|
rs121913040
|
|
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro)
|
rs892141220
|
|
NM_001953.5(TYMP):c.966T>C (p.Thr322=)
|
rs1064792856
|
|
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly)
|
rs1064792881
|
|
NM_001953.5(TYMP):c.99dup (p.Lys34fs)
|
rs1064792880
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6210+5G>A
|
rs886044593
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)
|
rs80356543
|
|
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)
|
rs80358250
|
|
NM_145064.3(STAC3):c.432+4A>T
|
rs751033943
|
|
NM_145064.3(STAC3):c.763_766del (p.Leu255fs)
|
rs773050511
|
|
NM_145064.3(STAC3):c.997-1G>T
|
rs779483367
|
|
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)
|
rs199474711
|
|
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)
|
rs80358247
|
|
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)
|
rs199474713
|
|
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)
|
rs121964853
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)
|
rs199474715
|
|
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys)
|
rs199474717
|
|
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly)
|
rs199474718
|
|
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)
|
rs80358248
|
|
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
|
|
|
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)
|
rs587777574
|
|
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)
|
rs730880031
|
|
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
|
rs730880030
|
|
NP_000531.2:p.4894Q
|
|
|
NP_000531.2:p.F4860del
|
|
|
NP_000531.2:p.F4906del
|
|
|
NP_000531.2:p.G4893R
|
|
|
NP_000531.2:p.L4647del
|
|
|
Single allele
|
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|
c.1069A>G
|
|
|
c.52_53delCT
|
|
|
c.972T>C
|
|
|
m.12147G>A
|
rs121434474
|
|
m.12207G>A
|
rs118203889
|
|
m.12770A>G
|
rs267606894
|
|
m.13042G>A
|
rs267606898
|
|
m.13084A>T
|
rs267606896
|
|
m.13513G>A
|
rs267606897
|
|
m.14453G>A
|
rs199476107
|
|
m.3252A>G
|
rs199474661
|
|
m.3256C>T
|
rs199474659
|
|
m.3260A>G
|
rs199474663
|
|
m.3271T>C
|
rs199474658
|
|
m.3697G>A
|
rs199476122
|
|
m.3946G>A
|
rs199476123
|
|
m.3949T>C
|
rs199476124
|
|
m.4332G>A
|
rs199476141
|
|
m.5521G>A
|
rs199474673
|
|
m.583G>A
|
rs118203885
|
|
m.611G>A
|
rs118203886
|
|
m.7512T>C
|
rs199474817
|
|
m.8296A>G
|
rs118192102
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8361G>A
|
rs118192104
|
|
m.8363G>A
|
rs118192100
|
|
p.L4796C
|
|
|
p.M2434K
|
|
|