NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
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.1336A>C (p.Thr446Pro)
|
rs200237622
|
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.1505C>T (p.Pro502Leu)
|
rs139149160
|
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.1637C>G (p.Thr546Arg)
|
rs548769905
|
0.00001
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)
|
rs1261058897
|
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.1039_1061delinsA (p.Tyr347fs)
|
|
|
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)
|
rs758827458
|
|
NM_014251.3(SLC25A13):c.1069C>T (p.Gln357Ter)
|
|
|
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)
|
rs1794540164
|
|
NM_014251.3(SLC25A13):c.1108_1109del (p.Met370fs)
|
|
|
NM_014251.3(SLC25A13):c.1121del (p.Ser374fs)
|
rs1584422832
|
|
NM_014251.3(SLC25A13):c.1174_1177delinsT (p.Arg392_Gly393delinsCys)
|
|
|
NM_014251.3(SLC25A13):c.1176_1177+1delinsT
|
|
|
NM_014251.3(SLC25A13):c.1177G>A (p.Gly393Ser)
|
rs1562823061
|
|
NM_014251.3(SLC25A13):c.1178-1G>T
|
rs1794001446
|
|
NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)
|
|
|
NM_014251.3(SLC25A13):c.1311+2dup
|
|
|
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)
|
rs1798490375
|
|
NM_014251.3(SLC25A13):c.1364G>T (p.Arg455Leu)
|
|
|
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)
|
rs540149539
|
|
NM_014251.3(SLC25A13):c.1452+5C>G
|
|
|
NM_014251.3(SLC25A13):c.1453-1G>C
|
|
|
NM_014251.3(SLC25A13):c.1498del (p.Tyr500fs)
|
|
|
NM_014251.3(SLC25A13):c.1549C>T (p.Gln517Ter)
|
|
|
NM_014251.3(SLC25A13):c.1591+1G>A
|
|
|
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)
|
rs80338724
|
|
NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)
|
rs80338715
|
|
NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)
|
|
|
NM_014251.3(SLC25A13):c.1615dup (p.Thr539fs)
|
|
|
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
|
rs548769905
|
|
NM_014251.3(SLC25A13):c.1637del (p.Thr546fs)
|
|
|
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs)
|
rs2116384200
|
|
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
|
|
|
NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)
|
|
|
NM_014251.3(SLC25A13):c.1750+1G>C
|
rs771583670
|
|
NM_014251.3(SLC25A13):c.1750+1G>T
|
|
|
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.1824dup (p.Ile609fs)
|
|
|
NM_014251.3(SLC25A13):c.1841+1G>T
|
|
|
NM_014251.3(SLC25A13):c.213-1G>C
|
|
|
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)
|
rs1254503252
|
|
NM_014251.3(SLC25A13):c.231_240del (p.Glu77fs)
|
|
|
NM_014251.3(SLC25A13):c.331_334delinsAGAAACTCT (p.Asp111fs)
|
|
|
NM_014251.3(SLC25A13):c.353del (p.Gln118fs)
|
|
|
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)
|
rs2116717319
|
|
NM_014251.3(SLC25A13):c.505C>T (p.Gln169Ter)
|
|
|
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs)
|
rs1794924933
|
|
NM_014251.3(SLC25A13):c.571del (p.Arg191fs)
|
rs1482630982
|
|
NM_014251.3(SLC25A13):c.577dup (p.His193fs)
|
|
|
NM_014251.3(SLC25A13):c.587_588insAA (p.Pro197fs)
|
|
|
NM_014251.3(SLC25A13):c.671del (p.Asn224fs)
|
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
NM_014251.3(SLC25A13):c.699del (p.Arg234fs)
|
rs1584433525
|
|
NM_014251.3(SLC25A13):c.70-2A>T
|
|
|
NM_014251.3(SLC25A13):c.74C>A (p.Ala25Glu)
|
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
NM_014251.3(SLC25A13):c.836_837del (p.Leu278_Tyr279insTer)
|
|
|
NM_014251.3(SLC25A13):c.848+1del
|
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)
|
|
|
NM_014251.3(SLC25A13):c.889del (p.Glu297fs)
|
|
|
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
|
|
|
NM_014251.3(SLC25A13):c.925C>T (p.Gln309Ter)
|
|
|
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter)
|
rs1012084121
|
|
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
|
|
|
NM_014251.3:c.468+4958_502del
|
|
|