NM_153280.2(UBA1):c.*203C>T
|
rs182093778
|
0.01657
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_003334.4(UBA1):c.2004-13C>T
|
rs201794720
|
0.00162
|
NM_003334.4(UBA1):c.873C>T (p.Ile291=)
|
rs143062483
|
0.00041
|
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr)
|
rs187589555
|
0.00025
|
NM_003334.4(UBA1):c.2733G>A (p.Lys911=)
|
rs149284493
|
0.00019
|
NM_003334.4(UBA1):c.346-10A>C
|
rs782089237
|
0.00016
|
NM_003334.4(UBA1):c.753A>G (p.Ser251=)
|
rs141505579
|
0.00012
|
NM_003334.4(UBA1):c.1156C>T (p.Leu386=)
|
rs782722368
|
0.00008
|
NM_003334.4(UBA1):c.1665C>T (p.Asp555=)
|
rs376109672
|
0.00008
|
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly)
|
rs782120956
|
0.00008
|
NM_003334.4(UBA1):c.1356C>T (p.Asp452=)
|
rs375669736
|
0.00006
|
NM_003334.4(UBA1):c.1233+8C>T
|
rs1178927745
|
0.00005
|
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp)
|
rs201504752
|
0.00004
|
NM_003334.4(UBA1):c.411G>A (p.Glu137=)
|
rs782009712
|
0.00004
|
NM_003334.4(UBA1):c.423T>C (p.Tyr141=)
|
rs782435953
|
0.00004
|
NM_003334.4(UBA1):c.1077A>C (p.Val359=)
|
rs782342123
|
0.00003
|
NM_003334.4(UBA1):c.1576-19C>T
|
rs782315217
|
0.00003
|
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)
|
rs781873529
|
0.00003
|
NM_003334.4(UBA1):c.2004-12G>A
|
rs201583168
|
0.00003
|
NM_003334.4(UBA1):c.2391C>T (p.Pro797=)
|
rs1556793279
|
0.00003
|
NM_003334.4(UBA1):c.2838+17G>A
|
rs1467681554
|
0.00003
|
NM_003334.4(UBA1):c.852C>T (p.Ser284=)
|
rs781839047
|
0.00003
|
NM_003334.4(UBA1):c.910-8C>T
|
rs374197052
|
0.00003
|
NM_003334.4(UBA1):c.1234-9C>T
|
rs374680331
|
0.00002
|
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe)
|
rs781838601
|
0.00002
|
NM_003334.4(UBA1):c.1420-8C>T
|
rs782038176
|
0.00002
|
NM_003334.4(UBA1):c.1638A>G (p.Thr546=)
|
rs201169336
|
0.00002
|
NM_003334.4(UBA1):c.1851G>A (p.Ser617=)
|
rs782523119
|
0.00002
|
NM_003334.4(UBA1):c.1875T>C (p.Pro625=)
|
rs1361428166
|
0.00002
|
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=)
|
rs782394637
|
0.00002
|
NM_003334.4(UBA1):c.2464+9_2464+16del
|
rs782707059
|
0.00002
|
NM_003334.4(UBA1):c.2465-17T>C
|
rs1354603007
|
0.00002
|
NM_003334.4(UBA1):c.2725C>T (p.Leu909=)
|
rs1268375603
|
0.00002
|
NM_003334.4(UBA1):c.2940+4A>G
|
rs782751765
|
0.00002
|
NM_003334.4(UBA1):c.2949C>T (p.His983=)
|
rs139697760
|
0.00002
|
NM_003334.4(UBA1):c.687C>T (p.Pro229=)
|
rs782311444
|
0.00002
|
NM_003334.4(UBA1):c.812-8C>T
|
rs1196797596
|
0.00002
|
NM_003334.4(UBA1):c.910-7G>A
|
rs782321523
|
0.00002
|
NM_003334.4(UBA1):c.954G>A (p.Thr318=)
|
rs368506746
|
0.00002
|
NM_003334.4(UBA1):c.1047C>T (p.Pro349=)
|
rs782664927
|
0.00001
|
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=)
|
rs1488418187
|
0.00001
|
NM_003334.4(UBA1):c.1401C>G (p.Gly467=)
|
rs782569910
|
0.00001
|
NM_003334.4(UBA1):c.1576-20G>A
|
rs377335190
|
0.00001
|
NM_003334.4(UBA1):c.1758C>T (p.Arg586=)
|
rs782655127
|
0.00001
|
NM_003334.4(UBA1):c.1929C>T (p.His643=)
|
rs782419696
|
0.00001
|
NM_003334.4(UBA1):c.2115C>T (p.Asp705=)
|
rs1481710267
|
0.00001
|
NM_003334.4(UBA1):c.2136C>T (p.His712=)
|
rs781845476
|
0.00001
|
NM_003334.4(UBA1):c.2187C>T (p.Phe729=)
|
rs1480401128
|
0.00001
|
NM_003334.4(UBA1):c.2202C>A (p.Leu734=)
|
rs1556793129
|
0.00001
|
NM_003334.4(UBA1):c.2371C>T (p.Leu791=)
|
rs1556793265
|
0.00001
|
NM_003334.4(UBA1):c.2412C>T (p.Gly804=)
|
rs201456998
|
0.00001
|
NM_003334.4(UBA1):c.2554-6T>C
|
rs370565575
|
0.00001
|
NM_003334.4(UBA1):c.2586C>T (p.Ile862=)
|
rs150512668
|
0.00001
|
NM_003334.4(UBA1):c.2640G>C (p.Arg880=)
|
rs1262504002
|
0.00001
|
NM_003334.4(UBA1):c.2688G>A (p.Thr896=)
|
rs781811327
|
0.00001
|
NM_003334.4(UBA1):c.2763C>G (p.Ser921=)
|
rs1317157419
|
0.00001
|
NM_003334.4(UBA1):c.2831G>A (p.Arg944His)
|
rs782687555
|
0.00001
|
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=)
|
rs782246207
|
0.00001
|
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=)
|
rs781808756
|
0.00001
|
NM_003334.4(UBA1):c.360G>A (p.Glu120=)
|
rs782436604
|
0.00001
|
NM_003334.4(UBA1):c.453C>T (p.Leu151=)
|
rs782803598
|
0.00001
|
NM_003334.4(UBA1):c.465C>T (p.Phe155=)
|
rs1556787010
|
0.00001
|
NM_003334.4(UBA1):c.573G>A (p.Thr191=)
|
rs1556787692
|
0.00001
|
NM_003334.4(UBA1):c.603C>T (p.Asp201=)
|
rs782085880
|
0.00001
|
NM_003334.4(UBA1):c.663T>A (p.Val221=)
|
rs782741702
|
0.00001
|
NM_003334.4(UBA1):c.1038A>G (p.Pro346=)
|
rs1936453717
|
|
NM_003334.4(UBA1):c.1041T>A (p.Pro347=)
|
rs2147259947
|
|
NM_003334.4(UBA1):c.1056+20A>G
|
|
|
NM_003334.4(UBA1):c.1194C>T (p.Asn398=)
|
rs782489931
|
|
NM_003334.4(UBA1):c.1218C>T (p.Ala406=)
|
rs2147261112
|
|
NM_003334.4(UBA1):c.1233+15G>A
|
|
|
NM_003334.4(UBA1):c.1234-18C>T
|
|
|
NM_003334.4(UBA1):c.1234-19_1234-16del
|
|
|
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
|
|
|
NM_003334.4(UBA1):c.1281T>C (p.Asp427=)
|
rs2147261868
|
|
NM_003334.4(UBA1):c.1338+15C>T
|
|
|
NM_003334.4(UBA1):c.1339-17C>T
|
|
|
NM_003334.4(UBA1):c.1377C>T (p.Gly459=)
|
rs2147262470
|
|
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
|
|
|
NM_003334.4(UBA1):c.1420-18T>C
|
rs372944361
|
|
NM_003334.4(UBA1):c.1420-18T>G
|
rs372944361
|
|
NM_003334.4(UBA1):c.1420-5C>T
|
|
|
NM_003334.4(UBA1):c.1533A>G (p.Ser511=)
|
rs2147263778
|
|
NM_003334.4(UBA1):c.1569T>C (p.Asp523=)
|
rs1602635564
|
|
NM_003334.4(UBA1):c.1575+9G>C
|
|
|
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
|
|
|
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
|
|
|
NM_003334.4(UBA1):c.1741+20A>G
|
|
|
NM_003334.4(UBA1):c.1742-19C>T
|
|
|
NM_003334.4(UBA1):c.1800A>G (p.Thr600=)
|
rs1233003223
|
|
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
|
|
|
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
|
|
|
NM_003334.4(UBA1):c.1939-10C>G
|
|
|
NM_003334.4(UBA1):c.1939-18T>C
|
|
|
NM_003334.4(UBA1):c.2003+11C>T
|
|
|
NM_003334.4(UBA1):c.2003+22_2003+23del
|
rs782114592
|
|
NM_003334.4(UBA1):c.2004-6T>C
|
|
|
NM_003334.4(UBA1):c.2094G>A (p.Gln698=)
|
rs1556792871
|
|
NM_003334.4(UBA1):c.2124C>T (p.Thr708=)
|
rs2147287638
|
|
NM_003334.4(UBA1):c.2130C>A (p.Ala710=)
|
rs782185391
|
|
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
|
|
|
NM_003334.4(UBA1):c.2199+17G>C
|
|
|
NM_003334.4(UBA1):c.2199+8C>T
|
|
|
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
|
|
|
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
|
|
|
NM_003334.4(UBA1):c.2250C>T (p.His750=)
|
|
|
NM_003334.4(UBA1):c.2274+10C>T
|
|
|
NM_003334.4(UBA1):c.2274+10_2274+14del
|
|
|
NM_003334.4(UBA1):c.2274+14C>G
|
|
|
NM_003334.4(UBA1):c.2274+14C>T
|
|
|
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
|
|
|
NM_003334.4(UBA1):c.2424T>C (p.His808=)
|
rs1936899956
|
|
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
|
|
|
NM_003334.4(UBA1):c.2465-5T>C
|
|
|
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
|
|
|
NM_003334.4(UBA1):c.2554-6T>A
|
|
|
NM_003334.4(UBA1):c.2554-6_2554-5del
|
|
|
NM_003334.4(UBA1):c.2595A>T (p.Ala865=)
|
rs139492208
|
|
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
|
|
|
NM_003334.4(UBA1):c.2646+11T>C
|
rs367788670
|
|
NM_003334.4(UBA1):c.2646+19_2646+20del
|
|
|
NM_003334.4(UBA1):c.2647-9_2647-6del
|
rs1173482035
|
|
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
|
|
|
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
|
|
|
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
|
|
|
NM_003334.4(UBA1):c.2745G>T (p.Gly915=)
|
rs2147297953
|
|
NM_003334.4(UBA1):c.2778C>T (p.Phe926=)
|
rs2147298051
|
|
NM_003334.4(UBA1):c.2793G>A (p.Leu931=)
|
rs782340410
|
|
NM_003334.4(UBA1):c.2838+16C>T
|
|
|
NM_003334.4(UBA1):c.2839-20C>A
|
|
|
NM_003334.4(UBA1):c.2839-4G>A
|
|
|
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
|
|
|
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
|
|
|
NM_003334.4(UBA1):c.2889G>T (p.Leu963=)
|
rs2147303075
|
|
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
|
|
|
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
|
|
|
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=)
|
rs2147305266
|
|
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=)
|
rs2147305287
|
|
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
|
|
|
NM_003334.4(UBA1):c.345+20T>C
|
|
|
NM_003334.4(UBA1):c.345+20_345+23del
|
|
|
NM_003334.4(UBA1):c.345+29_345+36del
|
|
|
NM_003334.4(UBA1):c.346-16C>T
|
|
|
NM_003334.4(UBA1):c.369C>T (p.Ile123=)
|
rs200892576
|
|
NM_003334.4(UBA1):c.384C>G (p.Ala128=)
|
rs782618684
|
|
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
|
|
|
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
|
|
|
NM_003334.4(UBA1):c.480+9G>A
|
|
|
NM_003334.4(UBA1):c.501C>T (p.Thr167=)
|
rs782020007
|
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
|
|
NM_003334.4(UBA1):c.540C>T (p.His180=)
|
rs1602629095
|
|
NM_003334.4(UBA1):c.574C>A (p.Arg192=)
|
rs185589110
|
|
NM_003334.4(UBA1):c.588-13C>T
|
|
|
NM_003334.4(UBA1):c.588-20C>T
|
|
|
NM_003334.4(UBA1):c.588-4A>C
|
|
|
NM_003334.4(UBA1):c.588-7T>C
|
rs1428822064
|
|
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
|
|
|
NM_003334.4(UBA1):c.679-16C>G
|
|
|
NM_003334.4(UBA1):c.750T>C (p.Phe250=)
|
rs1936417887
|
|
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
|
|
|
NM_003334.4(UBA1):c.811+17G>A
|
|
|
NM_003334.4(UBA1):c.811+18G>C
|
rs2147257670
|
|
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
|
|
|
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
|
|
|
NM_003334.4(UBA1):c.840C>T (p.Thr280=)
|
rs1936439884
|
|
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
|
|
|
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
|
|
|
NM_003334.4(UBA1):c.909+11C>T
|
|
|
NM_003334.4(UBA1):c.909+9G>T
|
|
|
NM_003334.4(UBA1):c.910-14T>C
|
rs782428315
|
|