|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
|
NM_004523.4(KIF11):c.980G>A (p.Arg327His)
|
rs746977730
|
0.00006
|
|
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser)
|
rs749985011
|
0.00006
|
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
|
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln)
|
rs146778113
|
0.00002
|
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
|
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)
|
rs1877889898
|
0.00001
|
|
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
|
rs757047420
|
0.00001
|
|
NM_001985.3(ETFB):c.58-57C>T
|
rs766066977
|
0.00001
|
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
|
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)
|
rs1597534120
|
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
|
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)
|
rs398123088
|
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
|
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
|
rs2068606445
|
|
|
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)
|
rs1475984278
|
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
|
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs)
|
rs1566533919
|
|
|
NM_001010874.5(TECRL):c.331+1G>A
|
rs1057517699
|
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
|
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)
|
rs1601419986
|
|
|
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)
|
rs141696238
|
|
|
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)
|
rs113994109
|
|
|
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile)
|
rs1553631770
|
|
|
NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup)
|
rs1558592501
|
|
|
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)
|
rs1567692384
|
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002880.4(RAF1):c.659_660del (p.Ser220fs)
|
rs1575577384
|
|
|
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
|
rs104893816
|
|
|
NM_004523.4(KIF11):c.895A>G (p.Ile299Val)
|
rs1844517913
|
|
|
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs)
|
rs1588621944
|
|
|
NM_005045.4(RELN):c.9841del (p.Ala3281fs)
|
rs1586472959
|
|
|
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)
|
rs1603441682
|
|
|
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp)
|
rs1176763588
|
|
|
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg)
|
rs751147622
|
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
|
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
|
rs767374538
|
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
|
NM_012193.4(FZD4):c.461A>G (p.His154Arg)
|
rs1334686841
|
|
|
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu)
|
rs1562313702
|
|
|
NM_017780.4(CHD7):c.6734del (p.Leu2245fs)
|
rs1563661595
|
|
|
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg)
|
rs1586468892
|
|
|
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)
|
rs1587053244
|
|
|
NM_020778.4(ALPK3):c.5019del
|
rs2141573290
|
|
|
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile)
|
rs1596432381
|
|
|
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro)
|
rs1567972995
|
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
|
NM_078480.3(PUF60):c.931del (p.Thr311fs)
|
rs1586565506
|
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|