NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)
|
rs764164607
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)
|
rs182913453
|
0.00004
|
NM_004453.4(ETFDH):c.406-1G>A
|
rs750189181
|
0.00004
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)
|
rs369711837
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_004453.4(ETFDH):c.176-2A>T
|
rs1485038306
|
0.00001
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)
|
|
|
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)
|
|
|
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)
|
|
|
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)
|
rs1369800014
|
|
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)
|
rs2126309189
|
|
NM_004453.4(ETFDH):c.1166del (p.Pro389fs)
|
|
|
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)
|
|
|
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)
|
|
|
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)
|
|
|
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)
|
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)
|
|
|
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)
|
|
|
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)
|
|
|
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)
|
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)
|
|
|
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)
|
|
|
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)
|
|
|
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)
|
|
|
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)
|
|
|
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)
|
|
|
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)
|
|
|
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)
|
rs749085653
|
|
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)
|
|
|
NM_004453.4(ETFDH):c.336_345del (p.His112fs)
|
|
|
NM_004453.4(ETFDH):c.34+1G>A
|
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
|
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.485_487+14delinsT
|
rs796051963
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
NM_004453.4(ETFDH):c.577del (p.Glu193fs)
|
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
NM_004453.4(ETFDH):c.606+1G>T
|
|
|
NM_004453.4(ETFDH):c.607-1G>A
|
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
NM_004453.4(ETFDH):c.685-1G>A
|
|
|
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)
|
|
|
NM_004453.4(ETFDH):c.723del (p.Thr242fs)
|
|
|
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
NM_004453.4(ETFDH):c.831+1G>A
|
|
|
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)
|
|
|
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)
|
|
|