NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)
|
rs797045713
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.63+1G>T
|
rs587783843
|
|
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)
|
rs193922887
|
|
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser)
|
rs1571892193
|
|
NM_001100.4(ACTA1):c.489C>A (p.His163Gln)
|
rs1571893383
|
|
NM_001164508.2(NEB):c.10872+1G>A
|
rs1336053002
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
NM_001164508.2(NEB):c.2416-1G>C
|
rs1553565278
|
|
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs)
|
rs1575024425
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.7956+1G>A
|
rs2098919015
|
|
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter)
|
rs1577253760
|
|
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
|
|
|
NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)
|
|
|
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)
|
rs750990843
|
|
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter)
|
rs1695634838
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)
|
rs2142289928
|
|