NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.1086-2A>T
|
rs2147762411
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter)
|
rs1669918554
|
|
NM_000182.5(HADHA):c.1202del (p.Gln401fs)
|
rs1057517087
|
|
NM_000182.5(HADHA):c.1220+1G>T
|
|
|
NM_000182.5(HADHA):c.1221-1G>C
|
rs1057516233
|
|
NM_000182.5(HADHA):c.1221-2A>G
|
|
|
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
|
|
|
NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer)
|
rs1057516734
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
NM_000182.5(HADHA):c.1479+1G>T
|
rs1290945516
|
|
NM_000182.5(HADHA):c.1480-1G>C
|
rs1558315590
|
|
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter)
|
rs1669632177
|
|
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
|
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)
|
rs1574603062
|
|
NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro)
|
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)
|
rs1553312033
|
|
NM_000182.5(HADHA):c.1844del (p.Asn615fs)
|
rs1669575714
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
|
|
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
|
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs)
|
|
|
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
|
|
|
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter)
|
rs1553311804
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
NM_000182.5(HADHA):c.2026del (p.Arg676fs)
|
rs1553311716
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2059del (p.Met687fs)
|
rs1553311706
|
|
NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer)
|
|
|
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)
|
rs1057517132
|
|
NM_000182.5(HADHA):c.2077del (p.Ile693fs)
|
|
|
NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs)
|
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
NM_000182.5(HADHA):c.2146+2T>C
|
rs1057516350
|
|
NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)
|
|
|
NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)
|
|
|
NM_000182.5(HADHA):c.2198T>C (p.Leu733Pro)
|
rs2147748812
|
|
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)
|
rs142120825
|
|
NM_000182.5(HADHA):c.2222del (p.Gly741fs)
|
rs1553311647
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs)
|
rs1553311645
|
|
NM_000182.5(HADHA):c.2229_2233dup (p.Thr745fs)
|
|
|