NC_000005.10:g.(?_110743720)_(110743797_?)del
|
|
NC_000005.9:g.(?_110077728)_(110083984_?)dup
|
|
NG_051334.1:g.(?_5985)_(28647_?)del
|
|
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp)
|
rs1057518748 |
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly)
|
rs1580850073 |
NM_138773.4(SLC25A46):c.1015C>T (p.His339Tyr)
|
|
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)
|
rs746681765 |
NM_138773.4(SLC25A46):c.1019G>C (p.Arg340Pro)
|
|
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro)
|
rs1057519294 |
NM_138773.4(SLC25A46):c.1036A>G (p.Thr346Ala)
|
rs1561610023 |
NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val)
|
rs139534651 |
NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys)
|
rs1229680117 |
NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln)
|
rs977278982 |
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=)
|
rs768641525 |
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=)
|
rs1164068029 |
NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln)
|
rs370880304 |
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp)
|
rs79149180 |
NM_138773.4(SLC25A46):c.1198G>A (p.Ala400Thr)
|
|
NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val)
|
rs1561610274 |
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=)
|
rs776771749 |
NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)
|
|
NM_138773.4(SLC25A46):c.1257A>G (p.Ter419Trp)
|
|
NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile)
|
rs1554091122 |
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=)
|
rs145421520 |
NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)
|
rs147648476 |
NM_138773.4(SLC25A46):c.166dup (p.His56fs)
|
rs1057519416 |
NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)
|
rs761045034 |
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs)
|
|
NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala)
|
rs1410055577 |
NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu)
|
rs758140632 |
NM_138773.4(SLC25A46):c.203C>G (p.Thr68Ser)
|
|
NM_138773.4(SLC25A46):c.209C>G (p.Ser70Cys)
|
|
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=)
|
rs755840361 |
NM_138773.4(SLC25A46):c.229A>C (p.Thr77Pro)
|
|
NM_138773.4(SLC25A46):c.230C>T (p.Thr77Met)
|
|
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)
|
rs200566665 |
NM_138773.4(SLC25A46):c.237A>C (p.Glu79Asp)
|
|
NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala)
|
rs960197684 |
NM_138773.4(SLC25A46):c.241T>C (p.Phe81Leu)
|
|
NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly)
|
rs892374338 |
NM_138773.4(SLC25A46):c.26T>C (p.Phe9Ser)
|
|
NM_138773.4(SLC25A46):c.276G>C (p.Gln92His)
|
|
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn)
|
rs73230112 |
NM_138773.4(SLC25A46):c.284-3T>C
|
rs770457308 |
NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val)
|
rs768960064 |
NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe)
|
rs768960064 |
NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr)
|
|
NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr)
|
rs766964934 |
NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe)
|
rs772344091 |
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys)
|
|
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His)
|
rs756258729 |
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=)
|
rs151055603 |
NM_138773.4(SLC25A46):c.384+4A>C
|
|
NM_138773.4(SLC25A46):c.385-4A>G
|
rs377289513 |
NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile)
|
rs766440921 |
NM_138773.4(SLC25A46):c.410A>G (p.His137Arg)
|
rs754427464 |
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg)
|
rs1057519295 |
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)
|
rs202123515 |
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile)
|
rs1057519296 |
NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile)
|
rs1554092069 |
NM_138773.4(SLC25A46):c.429C>T (p.Val143=)
|
rs35220834 |
NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln)
|
rs372382932 |
NM_138773.4(SLC25A46):c.458C>A (p.Thr153Asn)
|
rs775286893 |
NM_138773.4(SLC25A46):c.462+1G>A
|
|
NM_138773.4(SLC25A46):c.463-3del
|
rs769567758 |
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys)
|
rs770562376 |
NM_138773.4(SLC25A46):c.47del (p.Gly16fs)
|
rs1580849841 |
NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp)
|
rs1561595689 |
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser)
|
rs191332512 |
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=)
|
rs200143217 |
NM_138773.4(SLC25A46):c.55C>A (p.Arg19=)
|
rs1186440654 |
NM_138773.4(SLC25A46):c.563+6A>T
|
rs114546039 |
NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn)
|
rs1580866176 |
NM_138773.4(SLC25A46):c.597A>G (p.Ile199Met)
|
|
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg)
|
rs767725140 |
NM_138773.4(SLC25A46):c.59A>T (p.Asp20Val)
|
|
NM_138773.4(SLC25A46):c.620+4_620+7del
|
rs1580866253 |
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr)
|
rs766116322 |
NM_138773.4(SLC25A46):c.626C>T (p.Thr209Ile)
|
|
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=)
|
rs201039547 |
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met)
|
rs114859074 |
NM_138773.4(SLC25A46):c.634G>T (p.Val212Leu)
|
|
NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp)
|
rs1561595734 |
NM_138773.4(SLC25A46):c.678+14dup
|
rs539229853 |
NM_138773.4(SLC25A46):c.678+3G>A
|
rs1580867186 |
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)
|
rs1554093168 |
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu)
|
rs149585060 |
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp)
|
rs200725073 |
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln)
|
rs1184021143 |
NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg)
|
rs150754737 |
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
|
rs1580870705 |
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=)
|
rs766154121 |
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
|
|
NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met)
|
rs751900293 |
NM_138773.4(SLC25A46):c.804G>A (p.Thr268=)
|
rs757342761 |
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=)
|
rs1323118441 |
NM_138773.4(SLC25A46):c.829A>C (p.Ile277Leu)
|
|
NM_138773.4(SLC25A46):c.849G>C (p.Gln283His)
|
rs772739765 |
NM_138773.4(SLC25A46):c.864_866dup (p.Ile289dup)
|
|
NM_138773.4(SLC25A46):c.878A>T (p.Lys293Met)
|
|
NM_138773.4(SLC25A46):c.879G>C (p.Lys293Asn)
|
|
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)
|
rs1057518749 |
NM_138773.4(SLC25A46):c.884A>C (p.Tyr295Ser)
|
|
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser)
|
rs201789237 |
NM_138773.4(SLC25A46):c.908C>A (p.Thr303Asn)
|
|
NM_138773.4(SLC25A46):c.927G>T (p.Met309Ile)
|
|
NM_138773.4(SLC25A46):c.930G>T (p.Leu310Phe)
|
|
NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del)
|
rs374899270 |
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270 |
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
|
rs1390567933 |
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe)
|
rs762881271 |
NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile)
|
|
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)
|
rs1057518750 |
SCL25A46, 1.897-KB DEL
|
|