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NC_000005.9:g.(?_110077728)_(110083984_?)dup
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NC_000005.9:g.(?_110079421)_(110079498_?)del
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NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp)
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rs1057518748 |
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NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly)
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NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)
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rs746681765 |
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NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro)
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rs1057519294 |
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NM_138773.4(SLC25A46):c.1036A>G (p.Thr346Ala)
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rs1561610023 |
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NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val)
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NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys)
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rs1229680117 |
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NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln)
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NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=)
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rs1164068029 |
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NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln)
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rs370880304 |
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NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val)
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rs1561610274 |
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NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=)
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rs776771749 |
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NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile)
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rs1554091122 |
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NM_138773.4(SLC25A46):c.147C>T (p.Ile49=)
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rs145421520 |
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NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)
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rs147648476 |
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NM_138773.4(SLC25A46):c.166dup (p.His56fs)
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rs1057519416 |
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NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)
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NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala)
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rs1410055577 |
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NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu)
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rs758140632 |
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NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala)
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rs960197684 |
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NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly)
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NM_138773.4(SLC25A46):c.284-3T>C
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NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val)
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NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe)
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NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr)
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NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe)
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NM_138773.4(SLC25A46):c.371G>A (p.Arg124His)
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rs756258729 |
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NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile)
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rs766440921 |
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NM_138773.4(SLC25A46):c.410A>G (p.His137Arg)
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rs754427464 |
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NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg)
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rs1057519295 |
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NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile)
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rs1057519296 |
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NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile)
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rs1554092069 |
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NM_138773.4(SLC25A46):c.429C>T (p.Val143=)
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rs35220834 |
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NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln)
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rs372382932 |
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NM_138773.4(SLC25A46):c.458C>A (p.Thr153Asn)
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rs775286893 |
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NM_138773.4(SLC25A46):c.463-3del
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NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys)
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rs770562376 |
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NM_138773.4(SLC25A46):c.47del (p.Gly16fs)
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NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp)
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rs1561595689 |
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NM_138773.4(SLC25A46):c.55C>A (p.Arg19=)
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rs1186440654 |
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NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn)
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NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg)
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rs767725140 |
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NM_138773.4(SLC25A46):c.620+4_620+7del
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NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr)
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rs766116322 |
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NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp)
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rs1561595734 |
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NM_138773.4(SLC25A46):c.678+3G>A
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NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)
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rs1554093168 |
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NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp)
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rs200725073 |
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NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg)
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rs141213807 |
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NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln)
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rs1184021143 |
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NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg)
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rs150754737 |
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NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
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NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met)
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rs751900293 |
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NM_138773.4(SLC25A46):c.804G>A (p.Thr268=)
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rs757342761 |
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NM_138773.4(SLC25A46):c.81C>T (p.Ala27=)
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rs1323118441 |
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NM_138773.4(SLC25A46):c.849G>C (p.Gln283His)
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rs772739765 |
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NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)
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rs1057518749 |
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NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser)
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rs201789237 |
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NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del)
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NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
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NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe)
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NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)
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rs1057518750 |
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SCL25A46, 1.897-KB DEL
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