NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu)
|
rs202096553
|
0.00016
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)
|
rs768768823
|
0.00007
|
NM_005262.3(GFER):c.586C>T (p.Arg196Cys)
|
rs370475970
|
0.00007
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_005262.3(GFER):c.580C>T (p.Arg194Cys)
|
rs780851934
|
0.00003
|
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)
|
rs1397859218
|
0.00001
|
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met)
|
rs530565802
|
0.00001
|
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn)
|
rs1469953832
|
0.00001
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
NM_000252.2(MTM1):c.-76_-11del
|
|
|
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
|
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)
|
rs2148434034
|
|
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)
|
rs1057516031
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs)
|
rs2140545005
|
|
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
|
|
|
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
|
|
|
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
|
|
|
NM_001164508.2(NEB):c.23742+1G>A
|
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
|
|
|
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys)
|
rs1859698620
|
|
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
|
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln)
|
rs767794768
|
|
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu)
|
rs1276418601
|
|
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
|
|
|
NM_001953.5(TYMP):c.695T>C (p.Val232Ala)
|
rs1294823677
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
NM_002495.4(NDUFS4):c.350+1G>T
|
|
|
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
|
|
|
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
|
|
|
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
|
|
|
NM_005262.3(GFER):c.258+1G>A
|
|
|
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser)
|
rs2142307936
|
|
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
|
|
|
NM_078470.6(COX15):c.287G>T (p.Gly96Val)
|
rs771992107
|
|
NM_078470.6(COX15):c.839T>C (p.Phe280Ser)
|
|
|