NC_000001.11:g.11980166G>A
|
|
NM_001127660.1(MFN2):c.*1797_*1799GTT[1]
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rs140537612 |
NM_001127660.1(MFN2):c.-214C>G
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NM_001127660.1(MFN2):c.-237G>A
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NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del)
|
rs1478175861 |
NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del)
|
rs766213721 |
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)
|
rs1569829573 |
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs)
|
rs763007983 |
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile)
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rs119103266 |
NM_014874.3(MFN2):c.*1068C>T
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rs886045229 |
NM_014874.3(MFN2):c.*1153C>T
|
rs542684406 |
NM_014874.3(MFN2):c.*121A>G
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rs886045222 |
NM_014874.3(MFN2):c.*1276G>A
|
rs766342161 |
NM_014874.3(MFN2):c.*1295G>A
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rs763783578 |
NM_014874.3(MFN2):c.*1392A>G
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rs886045230 |
NM_014874.3(MFN2):c.*1539G>A
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rs557643473 |
NM_014874.3(MFN2):c.*1640del
|
rs35943162 |
NM_014874.3(MFN2):c.*1640dup
|
rs35943162 |
NM_014874.3(MFN2):c.*1794_*1796del
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rs540280019 |
NM_014874.3(MFN2):c.*256G>A
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rs557772799 |
NM_014874.3(MFN2):c.*297T>A
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rs886045224 |
NM_014874.3(MFN2):c.*36G>A
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rs377468070 |
NM_014874.3(MFN2):c.*413C>T
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rs558887681 |
NM_014874.3(MFN2):c.*57C>T
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rs886045221 |
NM_014874.3(MFN2):c.*610del
|
rs747291228 |
NM_014874.3(MFN2):c.*864T>C
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rs886045226 |
NM_014874.3(MFN2):c.*870C>T
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rs886045227 |
NM_014874.3(MFN2):c.*935G>T
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rs886045228 |
NM_014874.3(MFN2):c.*946C>A
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rs765105334 |
NM_014874.3(MFN2):c.-217C>A
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rs886045218 |
NM_014874.3(MFN2):c.-328T>A
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rs886045217 |
NM_014874.3(MFN2):c.-344C>T
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rs886045216 |
NM_014874.3(MFN2):c.1040A>T (p.Glu347Val)
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rs1569853875 |
NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro)
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rs1569853900 |
NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala)
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rs1569853967 |
NM_014874.3(MFN2):c.1078C>G (p.Gln360Glu)
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rs1064795818 |
NM_014874.3(MFN2):c.1081C>T (p.His361Tyr)
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rs1569854012 |
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg)
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rs387906991 |
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met)
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rs387906991 |
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)
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rs119103265 |
NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln)
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rs879254011 |
NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro)
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rs879254011 |
NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln)
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rs142042485 |
NM_014874.3(MFN2):c.1126A>C (p.Met376Leu)
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rs863224967 |
NM_014874.3(MFN2):c.1127T>C (p.Met376Thr)
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rs1569854342 |
NM_014874.3(MFN2):c.1127T>G (p.Met376Arg)
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rs1569854342 |
NM_014874.3(MFN2):c.1128G>A (p.Met376Ile)
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rs1553144059 |
NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro)
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rs1569854381 |
NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del)
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rs1569854405 |
NM_014874.3(MFN2):c.1143_1145GGC[1] (p.Ala383del)
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rs1553144065 |
NM_014874.3(MFN2):c.1144G>C (p.Ala382Pro)
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rs1553144066 |
NM_014874.3(MFN2):c.1150C>T (p.Arg384Trp)
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rs777353788 |
NM_014874.3(MFN2):c.1157_1158inv (p.Gln386Pro)
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NM_014874.3(MFN2):c.1168T>C (p.Cys390Arg)
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rs1569859647 |
NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe)
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rs1569859660 |
NM_014874.3(MFN2):c.1181G>A (p.Arg394His)
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rs538243357 |
NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter)
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rs879253939 |
NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro)
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rs138072432 |
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter)
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rs1057517987 |
NM_014874.3(MFN2):c.1269G>A (p.Thr423=)
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rs145994616 |
NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly)
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rs1557530247 |
NM_014874.3(MFN2):c.134A>G (p.Gln45Arg)
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rs1569802992 |
NM_014874.3(MFN2):c.1392+2T>C
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rs111723244 |
NM_014874.3(MFN2):c.1403G>A (p.Arg468His)
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rs138382758 |
NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr)
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rs1320374657 |
NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly)
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rs1569862824 |
NM_014874.3(MFN2):c.1537A>G (p.Ile513Val)
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rs755657087 |
NM_014874.3(MFN2):c.153G>T (p.Gln51His)
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rs886045219 |
NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro)
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rs373809750 |
NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser)
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rs145654854 |
NM_014874.3(MFN2):c.1659G>A (p.Val553=)
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rs886045220 |
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser)
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rs376925978 |
NM_014874.3(MFN2):c.1724G>A (p.Arg575His)
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rs564375950 |
NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs)
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rs1569868729 |
NM_014874.3(MFN2):c.1827C>T (p.Ser609=)
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rs138724074 |
NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr)
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rs755299545 |
NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe)
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rs1569870801 |
NM_014874.3(MFN2):c.1921T>C (p.Tyr641His)
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rs1569870930 |
NM_014874.3(MFN2):c.193G>T (p.Glu65Ter)
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rs1415276772 |
NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu)
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rs1569871448 |
NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys)
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rs369762154 |
NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu)
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rs766735605 |
NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser)
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rs1569871530 |
NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro)
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rs1569871653 |
NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro)
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rs1569882675 |
NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro)
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rs375937289 |
NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro)
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rs1557537223 |
NM_014874.3(MFN2):c.2140A>G (p.Ile714Val)
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rs779574187 |
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr)
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rs144860227 |
NM_014874.3(MFN2):c.2157G>A (p.Lys719=)
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rs148441213 |
NM_014874.3(MFN2):c.2171T>C (p.Leu724Pro)
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rs1557537346 |
NM_014874.3(MFN2):c.2200C>G (p.Leu734Val)
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rs900143738 |
NM_014874.3(MFN2):c.2213C>T (p.Ala738Val)
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rs1569889919 |
NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg)
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rs1557539004 |
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)
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rs28940292 |
NM_014874.3(MFN2):c.221A>G (p.Gln74Arg)
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rs1569815882 |
NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys)
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rs1060501925 |
NM_014874.3(MFN2):c.2222T>G (p.Leu741Trp)
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rs1553146559 |
NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg)
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rs1569890121 |
NM_014874.3(MFN2):c.2230G>A (p.Glu744Lys)
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rs1064794571 |
NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met)
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rs1569890153 |
NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro)
|
rs1553146569 |
NM_014874.3(MFN2):c.2240T>C (p.Met747Thr)
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rs879254059 |
NM_014874.3(MFN2):c.2249A>C (p.His750Pro)
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rs1569890311 |
NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter)
|
rs1557539119 |
NM_014874.3(MFN2):c.239G>T (p.Gly80Val)
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rs139827903 |
NM_014874.3(MFN2):c.250A>G (p.Lys84Glu)
|
rs1569816088 |
NM_014874.3(MFN2):c.271G>T (p.Val91Leu)
|
rs1557519001 |
NM_014874.3(MFN2):c.275T>C (p.Leu92Pro)
|
rs1569816285 |
NM_014874.3(MFN2):c.275T>G (p.Leu92Arg)
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rs1569816285 |
NM_014874.3(MFN2):c.280C>G (p.Arg94Gly)
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rs119103263 |
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291 |
NM_014874.3(MFN2):c.281G>C (p.Arg94Pro)
|
rs28940291 |
NM_014874.3(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706 |
NM_014874.3(MFN2):c.299C>G (p.Ala100Gly)
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rs1553141707 |
NM_014874.3(MFN2):c.311+1G>T
|
rs1569816606 |
NM_014874.3(MFN2):c.311G>A (p.Arg104Gln)
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rs863224068 |
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068 |
NM_014874.3(MFN2):c.313A>G (p.Thr105Ala)
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rs1553142428 |
NM_014874.3(MFN2):c.314C>G (p.Thr105Arg)
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rs863224069 |
NM_014874.3(MFN2):c.368C>T (p.Pro123Leu)
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rs1569829761 |
NM_014874.3(MFN2):c.377T>G (p.Ile126Ser)
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rs1334228742 |
NM_014874.3(MFN2):c.380G>A (p.Gly127Asp)
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rs1569829855 |
NM_014874.3(MFN2):c.380G>T (p.Gly127Val)
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rs1569829855 |
NM_014874.3(MFN2):c.383A>G (p.His128Arg)
|
rs1569829894 |
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser)
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rs776404901 |
NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr)
|
rs1569830013 |
NM_014874.3(MFN2):c.408= (p.Val136=)
|
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NM_014874.3(MFN2):c.467G>T (p.Ser156Ile)
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rs1557521949 |
NM_014874.3(MFN2):c.474+4A>G
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rs141974160 |
NM_014874.3(MFN2):c.475-1G>C
|
rs1569834500 |
NM_014874.3(MFN2):c.475-1G>T
|
rs1569834500 |
NM_014874.3(MFN2):c.491C>T (p.Ala164Val)
|
rs1553142699 |
NM_014874.3(MFN2):c.493C>G (p.His165Asp)
|
rs119103262 |
NM_014874.3(MFN2):c.493C>T (p.His165Tyr)
|
rs119103262 |
NM_014874.3(MFN2):c.494A>T (p.His165Leu)
|
rs863224970 |
NM_014874.3(MFN2):c.496G>A (p.Ala166Thr)
|
rs1569834732 |
NM_014874.3(MFN2):c.500T>C (p.Leu167Pro)
|
rs1569834760 |
NM_014874.3(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603 |
NM_014874.3(MFN2):c.605G>C (p.Gly202Ala)
|
rs1569842143 |
NM_014874.3(MFN2):c.609T>G (p.Ile203Met)
|
rs1569842208 |
NM_014874.3(MFN2):c.612T>A (p.Asp204Glu)
|
rs1569842258 |
NM_014874.3(MFN2):c.61A>G (p.Met21Val)
|
rs1569802518 |
NM_014874.3(MFN2):c.638T>C (p.Ile213Thr)
|
rs1557524703 |
NM_014874.3(MFN2):c.640G>A (p.Asp214Asn)
|
rs1569842382 |
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925 |
NM_014874.3(MFN2):c.661G>C (p.Asp221His)
|
rs1569842525 |
NM_014874.3(MFN2):c.669T>A (p.Phe223Leu)
|
rs1440006845 |
NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del)
|
rs1569842627 |
NM_014874.3(MFN2):c.692C>T (p.Ser231Phe)
|
rs1569842714 |
NM_014874.3(MFN2):c.694A>G (p.Thr232Ala)
|
rs1553143165 |
NM_014874.3(MFN2):c.695C>A (p.Thr232Asn)
|
rs1569842764 |
NM_014874.3(MFN2):c.697C>G (p.Leu233Val)
|
rs1569842803 |
NM_014874.3(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585 |
NM_014874.3(MFN2):c.708G>A (p.Thr236=)
|
rs1557524867 |
NM_014874.3(MFN2):c.718T>A (p.Phe240Ile)
|
rs1557525005 |
NM_014874.3(MFN2):c.725A>G (p.His242Arg)
|
rs863224065 |
NM_014874.3(MFN2):c.742C>G (p.Leu248Val)
|
rs1569843694 |
NM_014874.3(MFN2):c.748C>T (p.Arg250Trp)
|
rs373107074 |
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726 |
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295 |
NM_014874.3(MFN2):c.752C>G (p.Pro251Arg)
|
rs1557525153 |
NM_014874.3(MFN2):c.752C>T (p.Pro251Leu)
|
rs1557525153 |
NM_014874.3(MFN2):c.756C>A (p.Asn252Lys)
|
rs137960129 |
NM_014874.3(MFN2):c.756C>T (p.Asn252=)
|
rs137960129 |
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875 |
NM_014874.3(MFN2):c.776G>A (p.Arg259His)
|
rs755065651 |
NM_014874.3(MFN2):c.776G>T (p.Arg259Leu)
|
rs755065651 |
NM_014874.3(MFN2):c.787T>C (p.Ser263Pro)
|
rs1283917064 |
NM_014874.3(MFN2):c.818T>G (p.Val273Gly)
|
rs1458700065 |
NM_014874.3(MFN2):c.821G>A (p.Arg274Gln)
|
rs768407445 |
NM_014874.3(MFN2):c.828G>C (p.Gln276His)
|
rs1569851570 |
NM_014874.3(MFN2):c.829C>T (p.His277Tyr)
|
rs1569851586 |
NM_014874.3(MFN2):c.830A>G (p.His277Arg)
|
rs1064794316 |
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530 |
NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr)
|
rs1569851731 |
NM_014874.3(MFN2):c.864G>C (p.Glu288Asp)
|
rs1569851796 |
NM_014874.3(MFN2):c.898C>T (p.Arg300Cys)
|
rs863224066 |
NM_014874.3(MFN2):c.922G>T (p.Glu308Ter)
|
rs1553143852 |
NM_014874.3(MFN2):c.986_988del (p.Glu329del)
|
rs1569853108 |
NM_014874.4(MFN2):c.*1054C>T
|
|
NM_014874.4(MFN2):c.*1222G>A
|
|
NM_014874.4(MFN2):c.*131G>A
|
|
NM_014874.4(MFN2):c.*1535C>T
|
|
NM_014874.4(MFN2):c.*1662T>C
|
|
NM_014874.4(MFN2):c.*1763G>A
|
|
NM_014874.4(MFN2):c.*1902C>T
|
|
NM_014874.4(MFN2):c.*381C>A
|
|
NM_014874.4(MFN2):c.*813G>A
|
|
NM_014874.4(MFN2):c.1138C>T (p.His380Tyr)
|
rs1433849760 |
NM_014874.4(MFN2):c.1287+2T>G
|
rs758721984 |
NM_014874.4(MFN2):c.1393-8G>A
|
|
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)
|
|
NM_014874.4(MFN2):c.1556G>A (p.Arg519His)
|
rs373809750 |
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
|
|
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
|
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
|
rs771675874 |
NM_014874.4(MFN2):c.176-3C>T
|
|
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
|
|
NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu)
|
|
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)
|
rs1557515779 |
NM_014874.4(MFN2):c.2047A>C (p.Asn683His)
|
rs1569871862 |
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
|
|
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
|
|
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
|
|
NM_014874.4(MFN2):c.2211A>G (p.Lys737=)
|
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488 |
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
|
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)
|
rs1569816262 |
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
|
rs1569816382 |
NM_014874.4(MFN2):c.298G>T (p.Ala100Ser)
|
rs1569816496 |
NM_014874.4(MFN2):c.306dup (p.Gly103fs)
|
rs777012596 |
NM_014874.4(MFN2):c.30dup (p.Ile11fs)
|
rs1569802246 |
NM_014874.4(MFN2):c.430G>A (p.Ala144Thr)
|
rs1569830238 |
NM_014874.4(MFN2):c.472A>C (p.Lys158Gln)
|
rs1569830408 |
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
|
|
NM_014874.4(MFN2):c.628G>C (p.Asp210His)
|
|
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
|
|
NM_014874.4(MFN2):c.708+5CTC[2]
|
rs863224842 |
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu)
|
rs1557525005 |
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)
|
rs794729198 |
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
|
|
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
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NM_014874.4(MFN2):c.796G>C (p.Glu266Gln)
|
rs1569844113 |
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
|
|
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala)
|
|
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)
|
|
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
|
|