NM_080424.4(SP110):c.1274T>C (p.Leu425Ser)
|
rs3948464
|
0.86768
|
NM_080424.4(SP110):c.1568T>C (p.Met523Thr)
|
rs1135791
|
0.39929
|
NM_080424.4(SP110):c.1274= (p.Leu425=)
|
rs3948464
|
0.13232
|
NM_080424.4(SP110):c.1815+14A>G
|
rs34034766
|
0.11238
|
NM_080424.4(SP110):c.1731C>T (p.Cys577=)
|
rs13018234
|
0.10366
|
NM_080424.4(SP110):c.1737G>A (p.Met579Ile)
|
rs3948463
|
0.05302
|
NM_080424.4(SP110):c.1650T>C (p.Gly550=)
|
rs35495464
|
0.05293
|
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)
|
rs149485401
|
0.00856
|
NM_080424.4(SP110):c.1647C>T (p.Cys549=)
|
rs116626378
|
0.00462
|
NM_080424.4(SP110):c.1464C>T (p.Cys488=)
|
rs147355697
|
0.00399
|
NM_080424.4(SP110):c.1706+20G>A
|
rs192671550
|
0.00129
|
NM_080424.4(SP110):c.1413G>A (p.Ala471=)
|
rs147519012
|
0.00085
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
NM_080424.4(SP110):c.2006G>A (p.Arg669His)
|
rs115347862
|
0.00044
|
NM_080424.4(SP110):c.1612G>A (p.Glu538Lys)
|
rs149682257
|
0.00031
|
NM_080424.4(SP110):c.1315A>G (p.Lys439Glu)
|
rs145154247
|
0.00029
|
NM_080424.4(SP110):c.2122G>C (p.Gly708Arg)
|
rs181058279
|
0.00029
|
NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)
|
rs115052010
|
0.00027
|
NM_080424.4(SP110):c.1324T>C (p.Phe442Leu)
|
rs115380913
|
0.00020
|
NM_080424.4(SP110):c.1956G>A (p.Thr652=)
|
rs115116751
|
0.00016
|
NM_080424.4(SP110):c.1968G>A (p.Thr656=)
|
rs149050898
|
0.00015
|
NM_080424.4(SP110):c.2112C>T (p.Ala704=)
|
rs144066858
|
0.00015
|
NM_080424.4(SP110):c.1591C>T (p.Arg531Trp)
|
rs200099412
|
0.00013
|
NM_080424.4(SP110):c.1974A>G (p.Ala658=)
|
rs200463093
|
0.00012
|
NM_080424.4(SP110):c.1262G>A (p.Arg421Gln)
|
rs140588937
|
0.00010
|
NM_080424.4(SP110):c.1591-18C>T
|
rs199943105
|
0.00010
|
NM_080424.4(SP110):c.1170A>G (p.Gln390=)
|
rs140086984
|
0.00008
|
NM_080424.4(SP110):c.1343G>A (p.Arg448Gln)
|
rs201853984
|
0.00008
|
NM_080424.4(SP110):c.1395C>T (p.Pro465=)
|
rs767345511
|
0.00006
|
NM_080424.4(SP110):c.1590+13C>T
|
rs144063651
|
0.00006
|
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln)
|
rs200397055
|
0.00006
|
NM_080424.4(SP110):c.1379A>C (p.His460Pro)
|
rs772667418
|
0.00005
|
NM_080424.4(SP110):c.1480G>A (p.Gly494Arg)
|
rs777078204
|
0.00004
|
NM_080424.4(SP110):c.1512C>T (p.Val504=)
|
rs547650308
|
0.00004
|
NM_080424.4(SP110):c.1531G>A (p.Ala511Thr)
|
rs745817983
|
0.00004
|
NM_080424.4(SP110):c.1706+19C>T
|
rs200267588
|
0.00004
|
NM_080424.4(SP110):c.1757A>G (p.Gln586Arg)
|
rs757053890
|
0.00004
|
NM_080424.4(SP110):c.1899C>T (p.Tyr633=)
|
rs114352205
|
0.00004
|
NM_080424.4(SP110):c.2054T>C (p.Leu685Pro)
|
rs114501363
|
0.00004
|
NM_080424.4(SP110):c.2138C>G (p.Pro713Arg)
|
rs200225863
|
0.00004
|
NM_080424.4(SP110):c.*204A>T
|
rs76598053
|
0.00003
|
NM_080424.4(SP110):c.1362dup (p.Asp455Ter)
|
rs754452211
|
0.00003
|
NM_080424.4(SP110):c.1427A>G (p.Tyr476Cys)
|
rs148808440
|
0.00003
|
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)
|
rs201059449
|
0.00003
|
NM_080424.4(SP110):c.2098G>A (p.Gly700Ser)
|
rs141900135
|
0.00003
|
NM_080424.4(SP110):c.1254A>G (p.Lys418=)
|
rs201494565
|
0.00002
|
NM_080424.4(SP110):c.1301T>C (p.Ile434Thr)
|
rs140716014
|
0.00002
|
NM_080424.4(SP110):c.1342C>T (p.Arg448Ter)
|
rs199844454
|
0.00002
|
NM_080424.4(SP110):c.1547G>A (p.Arg516Gln)
|
rs763875680
|
0.00002
|
NM_080424.4(SP110):c.1939A>G (p.Lys647Glu)
|
rs752004065
|
0.00002
|
NM_080424.4(SP110):c.1988A>C (p.Asp663Ala)
|
rs780195098
|
0.00002
|
NM_080424.4(SP110):c.2086A>G (p.Lys696Glu)
|
rs370130521
|
0.00002
|
NM_080424.4(SP110):c.2118C>T (p.Asp706=)
|
rs115945163
|
0.00002
|
NM_080424.4(SP110):c.*203A>T
|
rs79681285
|
0.00001
|
NM_080424.4(SP110):c.1201G>A (p.Asp401Asn)
|
rs761627243
|
0.00001
|
NM_080424.4(SP110):c.1219G>C (p.Glu407Gln)
|
rs201353625
|
0.00001
|
NM_080424.4(SP110):c.1256G>A (p.Cys419Tyr)
|
rs200721134
|
0.00001
|
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg)
|
rs751347896
|
0.00001
|
NM_080424.4(SP110):c.1319G>A (p.Arg440Lys)
|
rs201014289
|
0.00001
|
NM_080424.4(SP110):c.1348+20C>T
|
rs200872139
|
0.00001
|
NM_080424.4(SP110):c.1373A>T (p.Asp458Val)
|
rs754679838
|
0.00001
|
NM_080424.4(SP110):c.1396G>A (p.Val466Met)
|
rs900500193
|
0.00001
|
NM_080424.4(SP110):c.1448-6T>G
|
rs201866278
|
0.00001
|
NM_080424.4(SP110):c.1448-8T>C
|
rs1454379529
|
0.00001
|
NM_080424.4(SP110):c.1448G>A (p.Gly483Glu)
|
rs534248634
|
0.00001
|
NM_080424.4(SP110):c.1469G>A (p.Arg490Gln)
|
rs760017935
|
0.00001
|
NM_080424.4(SP110):c.1590+10T>A
|
rs199856620
|
0.00001
|
NM_080424.4(SP110):c.1591-4G>A
|
rs773822608
|
0.00001
|
NM_080424.4(SP110):c.1591-6T>G
|
rs200317062
|
0.00001
|
NM_080424.4(SP110):c.1601C>T (p.Ser534Leu)
|
rs547427992
|
0.00001
|
NM_080424.4(SP110):c.1639C>G (p.Leu547Val)
|
rs376116343
|
0.00001
|
NM_080424.4(SP110):c.1649G>A (p.Gly550Asp)
|
rs761714428
|
0.00001
|
NM_080424.4(SP110):c.1661G>A (p.Arg554Gln)
|
rs199745658
|
0.00001
|
NM_080424.4(SP110):c.1707-9A>G
|
rs1408172912
|
0.00001
|
NM_080424.4(SP110):c.1708A>G (p.Met570Val)
|
rs547677489
|
0.00001
|
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)
|
rs1011767398
|
0.00001
|
NM_080424.4(SP110):c.1900G>A (p.Gly634Ser)
|
rs200027337
|
0.00001
|
NM_080424.4(SP110):c.1905G>C (p.Glu635Asp)
|
rs199635684
|
0.00001
|
NM_080424.4(SP110):c.1928T>G (p.Leu643Trp)
|
rs199752332
|
0.00001
|
NM_080424.4(SP110):c.1955C>T (p.Thr652Met)
|
rs372023963
|
0.00001
|
NM_080424.4(SP110):c.2061A>G (p.Leu687=)
|
rs756202587
|
0.00001
|
NM_080424.4(SP110):c.2091C>T (p.Asp697=)
|
rs201752781
|
0.00001
|
NM_080424.4(SP110):c.2092G>A (p.Val698Met)
|
rs765155471
|
0.00001
|
NM_080424.4(SP110):c.2135T>G (p.Leu712Arg)
|
rs757369735
|
0.00001
|
NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
|
|
|
NC_000002.11:g.(?_231033820)_(231086456_?)del
|
|
|
NC_000002.11:g.(?_231033820)_(231086456_?)dup
|
|
|
NC_000002.11:g.(?_231033840)_(231081642_?)del
|
|
|
NC_000002.11:g.(?_231042234)_(231042416_?)del
|
|
|
NC_000002.11:g.(?_231048268)_(231086456_?)dup
|
|
|
NC_000002.11:g.(?_231065581)_(231081642_?)del
|
|
|
NC_000002.12:g.(?_230176645)_(230177700_?)del
|
|
|
NM_080424.4(SP110):c.*158C>A
|
rs2078358694
|
|
NM_080424.4(SP110):c.*205_*206A[4]TTAA[1]
|
rs5839361
|
|
NM_080424.4(SP110):c.*206del
|
rs1553839905
|
|
NM_080424.4(SP110):c.*82G>A
|
rs371157716
|
|
NM_080424.4(SP110):c.1130-1G>C
|
|
|
NM_080424.4(SP110):c.1137C>T (p.Ala379=)
|
rs2148751311
|
|
NM_080424.4(SP110):c.1173G>A (p.Val391=)
|
rs886055764
|
|
NM_080424.4(SP110):c.1179T>G (p.Asp393Glu)
|
|
|
NM_080424.4(SP110):c.1195A>C (p.Lys399Gln)
|
|
|
NM_080424.4(SP110):c.1225A>G (p.Met409Val)
|
rs150627628
|
|
NM_080424.4(SP110):c.1225A>T (p.Met409Leu)
|
|
|
NM_080424.4(SP110):c.1226T>G (p.Met409Arg)
|
rs369778669
|
|
NM_080424.4(SP110):c.1227G>A (p.Met409Ile)
|
rs201972538
|
|
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter)
|
rs927135298
|
|
NM_080424.4(SP110):c.1280-10C>G
|
rs201596009
|
|
NM_080424.4(SP110):c.1283A>G (p.Lys428Arg)
|
|
|
NM_080424.4(SP110):c.1298A>G (p.Asp433Gly)
|
rs1157982871
|
|
NM_080424.4(SP110):c.1311C>A (p.Ser437Arg)
|
rs199802117
|
|
NM_080424.4(SP110):c.1339C>G (p.His447Asp)
|
|
|
NM_080424.4(SP110):c.1340A>G (p.His447Arg)
|
|
|
NM_080424.4(SP110):c.1341C>T (p.His447=)
|
|
|
NM_080424.4(SP110):c.1348+9G>A
|
rs758205605
|
|
NM_080424.4(SP110):c.1349-18G>T
|
|
|
NM_080424.4(SP110):c.1349-19T>C
|
rs1574607023
|
|
NM_080424.4(SP110):c.1349-2A>T
|
|
|
NM_080424.4(SP110):c.1349G>A (p.Gly450Glu)
|
rs200662686
|
|
NM_080424.4(SP110):c.1353A>T (p.Lys451Asn)
|
|
|
NM_080424.4(SP110):c.1395dup (p.Val466fs)
|
rs1560530550
|
|
NM_080424.4(SP110):c.1400C>A (p.Thr467Asn)
|
rs1331348371
|
|
NM_080424.4(SP110):c.1408G>A (p.Glu470Lys)
|
|
|
NM_080424.4(SP110):c.1412C>T (p.Ala471Val)
|
rs774900609
|
|
NM_080424.4(SP110):c.1421T>G (p.Ile474Ser)
|
rs1393390517
|
|
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer)
|
rs751020218
|
|
NM_080424.4(SP110):c.1447+13G>A
|
rs1277504177
|
|
NM_080424.4(SP110):c.1448-13C>T
|
|
|
NM_080424.4(SP110):c.1468C>T (p.Arg490Trp)
|
|
|
NM_080424.4(SP110):c.1478A>T (p.Asp493Val)
|
rs2148714312
|
|
NM_080424.4(SP110):c.1485T>G (p.Thr495=)
|
rs891497587
|
|
NM_080424.4(SP110):c.1502A>G (p.Glu501Gly)
|
rs2041925691
|
|
NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)
|
|
|
NM_080424.4(SP110):c.1530C>T (p.Asn510=)
|
|
|
NM_080424.4(SP110):c.1533A>G (p.Ala511=)
|
rs2148714102
|
|
NM_080424.4(SP110):c.1553T>A (p.Ile518Lys)
|
rs200056752
|
|
NM_080424.4(SP110):c.1553T>C (p.Ile518Thr)
|
|
|
NM_080424.4(SP110):c.1555C>T (p.Arg519Cys)
|
rs765616523
|
|
NM_080424.4(SP110):c.1556G>A (p.Arg519His)
|
|
|
NM_080424.4(SP110):c.1580A>G (p.Glu527Gly)
|
|
|
NM_080424.4(SP110):c.1590+16G>C
|
|
|
NM_080424.4(SP110):c.1590+20G>C
|
|
|
NM_080424.4(SP110):c.1591-10G>C
|
rs201856437
|
|
NM_080424.4(SP110):c.1602G>T (p.Ser534=)
|
rs756439485
|
|
NM_080424.4(SP110):c.1611C>T (p.Cys537=)
|
|
|
NM_080424.4(SP110):c.1621T>G (p.Cys541Gly)
|
rs2078487165
|
|
NM_080424.4(SP110):c.1627G>T (p.Gly543Trp)
|
|
|
NM_080424.4(SP110):c.1631dup (p.Gln545fs)
|
rs2078486744
|
|
NM_080424.4(SP110):c.1645T>C (p.Cys549Arg)
|
|
|
NM_080424.4(SP110):c.1650_1651delinsCT (p.Thr551Ser)
|
rs2106351365
|
|
NM_080424.4(SP110):c.1653T>C (p.Thr551=)
|
|
|
NM_080424.4(SP110):c.1660C>G (p.Arg554Gly)
|
|
|
NM_080424.4(SP110):c.1675G>A (p.Asp559Asn)
|
|
|
NM_080424.4(SP110):c.1691del (p.Pro564fs)
|
rs1245290762
|
|
NM_080424.4(SP110):c.1701C>G (p.Ala567=)
|
rs925484782
|
|
NM_080424.4(SP110):c.1706+11T>G
|
|
|
NM_080424.4(SP110):c.1706+17C>A
|
|
|
NM_080424.4(SP110):c.1706+20G>C
|
rs192671550
|
|
NM_080424.4(SP110):c.1707-11C>T
|
|
|
NM_080424.4(SP110):c.1707-14G>T
|
|
|
NM_080424.4(SP110):c.1713G>A (p.Leu571=)
|
rs2078461254
|
|
NM_080424.4(SP110):c.1733G>A (p.Arg578Lys)
|
rs2106348583
|
|
NM_080424.4(SP110):c.1749A>C (p.Ser583=)
|
rs1574590002
|
|
NM_080424.4(SP110):c.1751G>A (p.Gly584Glu)
|
|
|
NM_080424.4(SP110):c.1760A>G (p.Gln587Arg)
|
rs2106348468
|
|
NM_080424.4(SP110):c.1766A>T (p.His589Leu)
|
rs201886262
|
|
NM_080424.4(SP110):c.1766_1767del (p.His589fs)
|
|
|
NM_080424.4(SP110):c.1770T>C (p.His590=)
|
|
|
NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer)
|
rs2106348318
|
|
NM_080424.4(SP110):c.1782C>A (p.Thr594=)
|
rs1474040043
|
|
NM_080424.4(SP110):c.1784T>G (p.Leu595Arg)
|
|
|
NM_080424.4(SP110):c.1794G>A (p.Gln598=)
|
|
|
NM_080424.4(SP110):c.1815+11T>A
|
|
|
NM_080424.4(SP110):c.1815+17C>T
|
rs1353276974
|
|
NM_080424.4(SP110):c.1815+20C>G
|
rs199946971
|
|
NM_080424.4(SP110):c.1815+20C>T
|
rs199946971
|
|
NM_080424.4(SP110):c.1815+4A>T
|
rs978837440
|
|
NM_080424.4(SP110):c.1815+5_1815+6del
|
|
|
NM_080424.4(SP110):c.1816-1G>C
|
|
|
NM_080424.4(SP110):c.1888-17G>A
|
|
|
NM_080424.4(SP110):c.1888-22CT[3]
|
|
|
NM_080424.4(SP110):c.1888-2A>G
|
|
|
NM_080424.4(SP110):c.1888-4del
|
rs1367294713
|
|
NM_080424.4(SP110):c.1892G>C (p.Arg631Pro)
|
rs143090622
|
|
NM_080424.4(SP110):c.1900G>C (p.Gly634Arg)
|
rs200027337
|
|
NM_080424.4(SP110):c.1902T>C (p.Gly634=)
|
|
|
NM_080424.4(SP110):c.1933del (p.Leu645fs)
|
rs2106343198
|
|
NM_080424.4(SP110):c.1959A>G (p.Glu653=)
|
|
|
NM_080424.4(SP110):c.1965C>T (p.Tyr655=)
|
|
|
NM_080424.4(SP110):c.1991T>C (p.Met664Thr)
|
rs1302656922
|
|
NM_080424.4(SP110):c.1993C>A (p.Arg665Ser)
|
rs201864810
|
|
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys)
|
rs200893271
|
|
NM_080424.4(SP110):c.2012A>G (p.His671Arg)
|
|
|
NM_080424.4(SP110):c.2014A>T (p.Lys672Ter)
|
rs201966308
|
|
NM_080424.4(SP110):c.2026A>G (p.Lys676Glu)
|
|
|
NM_080424.4(SP110):c.2028+1G>A
|
rs2106342777
|
|
NM_080424.4(SP110):c.2029-18T>G
|
rs2106338359
|
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NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
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NM_080424.4(SP110):c.2038T>C (p.Phe680Leu)
|
rs1371302119
|
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NM_080424.4(SP110):c.2041G>C (p.Gly681Arg)
|
|
|
NM_080424.4(SP110):c.2059T>G (p.Leu687Val)
|
|
|
NM_080424.4(SP110):c.2072T>C (p.Phe691Ser)
|
|
|
NM_080424.4(SP110):c.2075A>G (p.Glu692Gly)
|
|
|
NM_080424.4(SP110):c.2079dup (p.Asp694fs)
|
rs769672517
|
|
NM_080424.4(SP110):c.2097C>T (p.Leu699=)
|
|
|
NM_080424.4(SP110):c.2099G>A (p.Gly700Asp)
|
rs2078364090
|
|
NM_080424.4(SP110):c.2100T>C (p.Gly700=)
|
rs770898382
|
|
NM_080424.4(SP110):c.2106T>C (p.His702=)
|
|
|
NM_080424.4(SP110):c.2114A>G (p.Asn705Ser)
|
rs147011203
|
|
NM_080424.4(SP110):c.2116G>A (p.Asp706Asn)
|
|
|
NM_080424.4(SP110):c.2119G>T (p.Gly707Cys)
|
rs1423431073
|
|
NM_080424.4(SP110):c.2122G>A (p.Gly708Ser)
|
rs181058279
|
|
NM_080424.4(SP110):c.2127C>G (p.Phe709Leu)
|
|
|