NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)
|
rs181892289
|
0.00024
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_078470.6(COX15):c.532C>T (p.Arg178Cys)
|
rs192078749
|
0.00008
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)
|
rs765669597
|
0.00003
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)
|
rs549779256
|
0.00002
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp)
|
rs1203435642
|
0.00001
|
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)
|
rs915830221
|
0.00001
|
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)
|
rs1398859175
|
0.00001
|
NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser)
|
rs1003871860
|
0.00001
|
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)
|
rs1170556084
|
0.00001
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)
|
rs875989947
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)
|
rs879254269
|
|
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr)
|
rs1554337589
|
|
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)
|
rs747286444
|
|
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu)
|
rs753460621
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)
|
rs1554015228
|
|
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)
|
rs1553809971
|
|
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)
|
rs1553249704
|
|
NM_001927.4(DES):c.1151A>G (p.His384Arg)
|
rs1553603566
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
NM_003673.4(TCAP):c.1A>G (p.Met1Val)
|
rs1567864804
|
|
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)
|
rs1562957000
|
|
NM_004409.5(DMPK):c.1789G>A (p.Val597Ile)
|
rs1310210930
|
|
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg)
|
rs1600444823
|
|
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter)
|
rs762280354
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)
|
rs1165819867
|
|
NM_176795.5(HRAS):c.500dup (p.Pro169fs)
|
rs35613389
|
|
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys)
|
rs1567266829
|
|
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr)
|
rs1555478028
|
|
NM_182914.3(SYNE2):c.12609+1G>T
|
rs745516407
|
|
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln)
|
rs1158170304
|
|
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser)
|
rs1596340525
|
|
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser)
|
rs771389608
|
|
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)
|
rs1554451078
|
|
NM_182961.4(SYNE1):c.23461-1G>A
|
rs1586909309
|
|
m.9804G>A
|
rs200613617
|
|