NM_014251.3(SLC25A13):c.848+3A>C
|
rs369402461
|
0.00009
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
NM_014251.3(SLC25A13):c.1231-1G>A
|
rs781452100
|
0.00004
|
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)
|
rs758827458
|
0.00003
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)
|
rs1312396424
|
0.00002
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)
|
rs80338721
|
0.00001
|
NM_014251.3(SLC25A13):c.1173T>G (p.Tyr391Ter)
|
rs762925301
|
0.00001
|
NM_014251.3(SLC25A13):c.1177+1G>A
|
rs80338722
|
0.00001
|
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)
|
rs768922690
|
0.00001
|
NM_014251.3(SLC25A13):c.1311+1G>A
|
rs80338723
|
0.00001
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
NM_014251.3(SLC25A13):c.1677C>G (p.Tyr559Ter)
|
rs201168119
|
0.00001
|
NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)
|
rs1261058897
|
0.00001
|
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)
|
rs121908532
|
0.00001
|
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)
|
rs80338726
|
0.00001
|
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)
|
rs80338716
|
0.00001
|
NM_014251.3(SLC25A13):c.70-1G>A
|
rs962082210
|
0.00001
|
NM_014251.3(SLC25A13):c.848+1G>T
|
rs761370420
|
0.00001
|
NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)
|
rs763191789
|
0.00001
|
NC_000007.13:g.(?_95749522)_(95751319_?)del
|
|
|
NC_000007.13:g.(?_95761045)_(95761203_?)dup
|
|
|
NC_000007.13:g.(?_95799347)_(95800846_?)del
|
|
|
NC_000007.13:g.(?_95812693)_(95813744_?)del
|
|
|
NC_000007.13:g.(?_95838130)_(95838309_?)del
|
|
|
NC_000007.13:g.(?_95838140)_(95838299_?)del
|
|
|
NC_000007.13:g.(?_95906498)_(95906660_?)del
|
|
|
NC_000007.14:g.(?_96191099)_(96193193_?)del
|
|
|
NC_000007.14:g.(?_96234792)_(96234927_?)del
|
|
|
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)
|
rs758827458
|
|
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)
|
rs1794541339
|
|
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)
|
rs1794540164
|
|
NM_014251.3(SLC25A13):c.111del (p.Asn38fs)
|
rs2116939333
|
|
NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)
|
|
|
NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter)
|
rs1794536022
|
|
NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)
|
|
|
NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)
|
|
|
NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter)
|
rs1004549438
|
|
NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs)
|
rs1286193203
|
|
NM_014251.3(SLC25A13):c.1230+1G>A
|
|
|
NM_014251.3(SLC25A13):c.124del (p.Thr42fs)
|
rs2116939236
|
|
NM_014251.3(SLC25A13):c.1258del (p.Met420fs)
|
|
|
NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)
|
|
|
NM_014251.3(SLC25A13):c.1311+1G>C
|
|
|
NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter)
|
rs879255502
|
|
NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter)
|
rs2116482158
|
|
NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter)
|
rs2116939192
|
|
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)
|
rs1798490375
|
|
NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)
|
rs1178306013
|
|
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)
|
rs540149539
|
|
NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs)
|
rs773624358
|
|
NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter)
|
rs1792801432
|
|
NM_014251.3(SLC25A13):c.1453-1G>A
|
rs1792048079
|
|
NM_014251.3(SLC25A13):c.1453-2A>G
|
|
|
NM_014251.3(SLC25A13):c.1453-2A>T
|
rs2116426311
|
|
NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp)
|
|
|
NM_014251.3(SLC25A13):c.1486_1489del (p.Phe496fs)
|
rs756182703
|
|
NM_014251.3(SLC25A13):c.152del (p.Ser51fs)
|
|
|
NM_014251.3(SLC25A13):c.16-2A>G
|
rs1799374421
|
|
NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs)
|
rs1791532136
|
|
NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)
|
|
|
NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer)
|
rs750225643
|
|
NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer)
|
rs2116384695
|
|
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
|
|
|
NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs)
|
rs2116384455
|
|
NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)
|
|
|
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs)
|
rs2116384200
|
|
NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs)
|
rs1562774655
|
|
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
|
|
|
NM_014251.3(SLC25A13):c.1677C>A (p.Tyr559Ter)
|
|
|
NM_014251.3(SLC25A13):c.1712del (p.Arg571fs)
|
rs1554335461
|
|
NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)
|
|
|
NM_014251.3(SLC25A13):c.173_174del (p.Val58fs)
|
rs1798487766
|
|
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA
|
|
|
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC
|
|
|
NM_014251.3(SLC25A13):c.175del (p.Glu59fs)
|
|
|
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)
|
|
|
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)
|
|
|
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)
|
rs80338727
|
|
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)
|
rs1254503252
|
|
NM_014251.3(SLC25A13):c.276del (p.Phe92fs)
|
rs2116815571
|
|
NM_014251.3(SLC25A13):c.27del (p.Lys10fs)
|
|
|
NM_014251.3(SLC25A13):c.363del (p.His122fs)
|
|
|
NM_014251.3(SLC25A13):c.415_428del (p.Gly139fs)
|
|
|
NM_014251.3(SLC25A13):c.420del (p.Glu141fs)
|
rs1562844289
|
|
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)
|
rs2116717319
|
|
NM_014251.3(SLC25A13):c.457C>T (p.Gln153Ter)
|
rs2116717136
|
|
NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter)
|
rs2116663520
|
|
NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)
|
rs1562831765
|
|
NM_014251.3(SLC25A13):c.495del (p.Ala166fs)
|
rs879255504
|
|
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs)
|
rs1794924933
|
|
NM_014251.3(SLC25A13):c.535dup (p.Thr179fs)
|
|
|
NM_014251.3(SLC25A13):c.550del (p.Arg184fs)
|
|
|
NM_014251.3(SLC25A13):c.571del (p.Arg191fs)
|
rs1482630982
|
|
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs)
|
rs762941850
|
|
NM_014251.3(SLC25A13):c.607_611dup (p.Val204_Ala205insTer)
|
rs1794918929
|
|
NM_014251.3(SLC25A13):c.615+1G>A
|
|
|
NM_014251.3(SLC25A13):c.640C>T (p.Gln214Ter)
|
rs2116656505
|
|
NM_014251.3(SLC25A13):c.65_66insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAATATTTTT (p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_014251.3(SLC25A13):c.66_67insC (p.Lys23fs)
|
rs1255908000
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
NM_014251.3(SLC25A13):c.687del (p.Asn229fs)
|
|
|
NM_014251.3(SLC25A13):c.69+5G>A
|
rs1319034578
|
|
NM_014251.3(SLC25A13):c.70-12_72del
|
|
|
NM_014251.3(SLC25A13):c.70-63_132del
|
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)
|
rs746155190
|
|
NM_014251.3(SLC25A13):c.792del (p.Thr265fs)
|
rs2116650029
|
|
NM_014251.3(SLC25A13):c.848+1G>A
|
rs761370420
|
|
NM_014251.3(SLC25A13):c.848+1del
|
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014251.3(SLC25A13):c.881_894del (p.Ala294fs)
|
|
|
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
|
|
|
NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)
|
|
|
NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter)
|
rs2116939424
|
|
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter)
|
rs1012084121
|
|
NM_014251.3(SLC25A13):c.979G>T (p.Glu327Ter)
|
|
|
NM_014251.3(SLC25A13):c.980_981del (p.Glu327fs)
|
rs764401478
|
|
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
|
|
|
NM_014251.3(SLC25A13):c.[1956C>A;1962del]
|
|
|