NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)
|
rs774193816
|
0.00010
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)
|
rs746681765
|
0.00003
|
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)
|
rs779250530
|
0.00001
|
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys)
|
rs868185064
|
0.00001
|
NM_021625.5(TRPV4):c.695G>A (p.Arg232His)
|
rs769107613
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)
|
rs751139506
|
0.00001
|
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
|
rs1580870705
|
0.00001
|
NC_000005.9:g.(?_110077728)_(110083984_?)dup
|
|
|
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)
|
rs1564557037
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
|
|
|
NM_001330701.2(AGTPBP1):c.2186+2T>G
|
rs1564069807
|
|
NM_001358263.1(HK1):c.1A>G (p.Met1Val)
|
rs1589439508
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.1839dup (p.Thr614fs)
|
rs1553145402
|
|
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly)
|
rs1639043704
|
|
NM_014874.4(MFN2):c.720C>G (p.Phe240Leu)
|
rs864622480
|
|
NM_021076.4(NEFH):c.883+1G>C
|
rs1602961831
|
|
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly)
|
rs2147992303
|
|
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)
|
rs515726154
|
|
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
|
|
|
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)
|
rs1890124015
|
|
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
|
|
|
NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)
|
|
|
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del)
|
rs1889549195
|
|
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro)
|
rs769107613
|
|
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)
|
rs1289139464
|
|
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)
|
rs1289139464
|
|
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser)
|
rs267607146
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu)
|
rs387906905
|
|
NM_138773.4(SLC25A46):c.327-2A>C
|
|
|
NM_138773.4(SLC25A46):c.385-2A>T
|
rs1799815535
|
|
NM_138773.4(SLC25A46):c.462+2T>C
|
|
|
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter)
|
rs1561602892
|
|
NM_138773.4(SLC25A46):c.620+1G>A
|
|
|
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)
|
rs1554093168
|
|
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln)
|
rs1184021143
|
|
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)
|
rs2138792385
|
|