NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)
|
rs754016178
|
0.00002
|
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)
|
rs766998571
|
0.00001
|
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)
|
rs1639431440
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)
|
rs397514534
|
0.00001
|
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)
|
rs1553190285
|
|
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)
|
rs1553192086
|
|
NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)
|
|
|
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)
|
rs1553192091
|
|
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)
|
rs1553192091
|
|
NM_000701.8(ATP1A1):c.1801_1802delinsTT (p.Asp601Phe)
|
|
|
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)
|
rs1553192783
|
|
NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro)
|
rs138072432
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
|
|
|
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)
|
rs1557515779
|
|
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
|
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg)
|
rs1569890121
|
|
NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)
|
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
rs1557519001
|
|
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
|
rs1569816382
|
|
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)
|
rs1638897505
|
|
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg)
|
rs1638957491
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)
|
rs1639045962
|
|
NM_014874.4(MFN2):c.781G>C (p.Asp261His)
|
rs2100832682
|
|
NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)
|
|
|
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)
|
rs1639171700
|
|
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)
|
rs606231237
|
|
NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)
|
rs1564385081
|
|