NM_000182.5(HADHA):c.*355C>T
|
rs539549041
|
0.00071
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
NM_000182.5(HADHA):c.*586G>A
|
rs749568626
|
0.00021
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00012
|
NM_000182.5(HADHA):c.*239C>T
|
rs1001518961
|
0.00010
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000182.5(HADHA):c.*110G>A
|
rs952439873
|
0.00008
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
0.00007
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
NM_000182.5(HADHA):c.*403C>T
|
rs146210168
|
0.00006
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
NM_000182.5(HADHA):c.*182C>T
|
rs1013194171
|
0.00003
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
NM_000182.5(HADHA):c.1507G>A (p.Val503Met)
|
rs138386385
|
0.00002
|
NM_000182.5(HADHA):c.1596G>C (p.Gln532His)
|
rs1004898768
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala)
|
rs1277103504
|
0.00002
|
NM_000182.5(HADHA):c.1889G>A (p.Arg630His)
|
rs150850348
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val)
|
rs766188621
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.*405C>T
|
rs886055859
|
0.00001
|
NM_000182.5(HADHA):c.*437T>A
|
rs779402635
|
0.00001
|
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)
|
rs200715496
|
0.00001
|
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val)
|
rs751092349
|
0.00001
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.1939G>C (p.Asp647His)
|
rs1669533378
|
0.00001
|
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly)
|
rs1214955457
|
0.00001
|
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly)
|
rs1669530550
|
0.00001
|
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
|
rs1231960929
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)
|
rs143434901
|
0.00001
|
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)
|
rs775428463
|
0.00001
|
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)
|
rs1348209738
|
0.00001
|
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)
|
rs768855989
|
0.00001
|
NM_000182.5(HADHA):c.*103A>T
|
rs1360388686
|
|
NM_000182.5(HADHA):c.*373GT[1]
|
rs886055861
|
|
NM_000182.5(HADHA):c.*389C>G
|
rs886055860
|
|
NM_000182.5(HADHA):c.*458TG[3]
|
rs146500488
|
|
NM_000182.5(HADHA):c.*46G>A
|
rs367911534
|
|
NM_000182.5(HADHA):c.*489G>A
|
rs886055857
|
|
NM_000182.5(HADHA):c.*494G>T
|
rs886055856
|
|
NM_000182.5(HADHA):c.*59C>T
|
rs1669485295
|
|
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
|
|
|
NM_000182.5(HADHA):c.1137C>G (p.Val379=)
|
rs1669919221
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn)
|
rs778263925
|
|
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
|
|
|
NM_000182.5(HADHA):c.1220+2_1220+5dup
|
rs1553313192
|
|
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu)
|
rs770219903
|
|
NM_000182.5(HADHA):c.1393-3C>T
|
|
|
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu)
|
rs1226499517
|
|
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro)
|
rs1669713015
|
|
NM_000182.5(HADHA):c.1480-139C>G
|
|
|
NM_000182.5(HADHA):c.1480-3C>T
|
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
|
|
|
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys)
|
rs763353852
|
|
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
|
|
|
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
|
|
|
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys)
|
rs2147753043
|
|
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)
|
rs1553312059
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
|
|
|
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala)
|
rs1574602341
|
|
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
|
rs1574602310
|
|
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
|
|
|
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
|
|
|
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
|
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
|
|
|
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
|
|
|
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)
|
rs796051971
|
|
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
|
|
|
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
|
|
|
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser)
|
rs374174659
|
|
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe)
|
rs1669530829
|
|
NM_000182.5(HADHA):c.2000+5G>C
|
|
|
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala)
|
rs1669507749
|
|
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)
|
rs1669504364
|
|
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
|
|
|
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile)
|
rs2147749338
|
|
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)
|
rs1553311698
|
|
NM_000182.5(HADHA):c.2146+19G>C
|
|
|
NM_000182.5(HADHA):c.2147-2A>G
|
|
|
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
|
|
|
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
|
|
|
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
|
|
|
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
|
rs141164185
|
|
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)
|
rs1553311646
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|