NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_014874.4(MFN2):c.165C>T (p.Thr55=)
|
rs77458527
|
0.00106
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00106
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
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.1292C>T (p.Ser431Leu)
|
rs764374251
|
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_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)
|
rs397514534
|
0.00001
|
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
|
|
|
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.1071G>C (p.Lys357Asn)
|
rs119103261
|
|
NM_014874.4(MFN2):c.1083C>G (p.His361Gln)
|
rs1639197832
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
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.1392+2T>C
|
rs111723244
|
|
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)
|
rs1266361856
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)
|
rs1553145023
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
|
|
|
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro)
|
rs763492075
|
|
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)
|
rs1557515779
|
|
NM_014874.4(MFN2):c.205G>T (p.Val69Phe)
|
rs28940296
|
|
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
|
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)
|
rs1557537223
|
|
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)
|
rs1569889919
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg)
|
rs1569890121
|
|
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)
|
rs1557539119
|
|
NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)
|
|
|
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)
|
rs863224968
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
rs1557519001
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)
|
|
|
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
|
rs1569816382
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)
|
rs863224069
|
|
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)
|
rs1638897505
|
|
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)
|
rs863224969
|
|
NM_014874.4(MFN2):c.479T>G (p.Val160Gly)
|
rs879253861
|
|
NM_014874.4(MFN2):c.493C>G (p.His165Asp)
|
rs119103262
|
|
NM_014874.4(MFN2):c.494A>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.497C>T (p.Ala166Val)
|
rs1557522849
|
|
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg)
|
rs1638957491
|
|
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser)
|
rs879253862
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
|
rs1569842296
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
|
rs1557524703
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr)
|
rs1639045345
|
|
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)
|
rs1639045962
|
|
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn)
|
rs1569842764
|
|
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser)
|
rs1569842764
|
|
NM_014874.4(MFN2):c.701T>A (p.Met234Lys)
|
rs1639047697
|
|
NM_014874.4(MFN2):c.702G>A (p.Met234Ile)
|
|
|
NM_014874.4(MFN2):c.705G>T (p.Gln235His)
|
|
|
NM_014874.4(MFN2):c.724C>T (p.His242Tyr)
|
|
|
NM_014874.4(MFN2):c.730G>A (p.Val244Met)
|
rs879253777
|
|
NM_014874.4(MFN2):c.730G>T (p.Val244Leu)
|
rs879253777
|
|
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys)
|
rs794729198
|
|
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)
|
rs794729198
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014874.4(MFN2):c.781G>C (p.Asp261His)
|
rs2100832682
|
|
NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)
|
|
|
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)
|
rs28940294
|
|
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)
|
rs866604005
|
|
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
|
|