|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
|
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)
|
rs139715157
|
0.00012
|
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
|
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)
|
rs768768823
|
0.00007
|
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
|
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)
|
rs778022582
|
0.00002
|
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
|
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)
|
rs1397859218
|
0.00001
|
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
|
NC_012920.1(MT-TL1):m.3243A>G
|
rs199474657
|
|
|
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
|
|
|
|
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)
|
|
|
|
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.1371del (p.Glu457fs)
|
|
|
|
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)
|
rs2148434034
|
|
|
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)
|
rs1057516031
|
|
|
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)
|
rs80338792
|
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
|
NM_000540.3(RYR1):c.13220del (p.Gly4407fs)
|
rs1568583728
|
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
|
NM_000540.3(RYR1):c.3899del (p.Phe1300fs)
|
|
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
|
NM_000540.3(RYR1):c.7706_7707del (p.Phe2569fs)
|
|
|
|
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)
|
rs773598203
|
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
|
|
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
|
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
|
|
|
|
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
|
|
|
|
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)
|
rs754866489
|
|
|
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)
|
rs779996703
|
|
|
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
|
|
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
|
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
|
|
|
|
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)
|
rs121918310
|
|
|
NM_017534.6(MYH2):c.985C>T (p.Gln329Ter)
|
|
|
|
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)
|
rs111033579
|
|
|
NM_021830.5(TWNK):c.1374G>T (p.Gln458His)
|
rs1554887213
|
|
|
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp)
|
rs1159929268
|
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
|