NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)
|
rs138763545
|
0.00264
|
NM_194454.3(KRIT1):c.2025+26A>G
|
rs183850671
|
0.00225
|
NM_194454.3(KRIT1):c.846-5dup
|
rs373763254
|
0.00219
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
NM_194454.3(KRIT1):c.-421+190G>T
|
rs570721041
|
0.00102
|
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)
|
rs34358665
|
0.00097
|
NM_194454.3(KRIT1):c.*451T>C
|
rs886062486
|
0.00054
|
NM_194454.3(KRIT1):c.*46G>A
|
rs369227523
|
0.00029
|
NM_194454.3(KRIT1):c.*361C>G
|
rs886062489
|
0.00024
|
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)
|
rs150912644
|
0.00023
|
NM_194454.3(KRIT1):c.1818+4A>G
|
rs193035191
|
0.00023
|
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)
|
rs370766145
|
0.00016
|
NM_194454.3(KRIT1):c.*885A>T
|
rs567470870
|
0.00014
|
NM_194454.3(KRIT1):c.2152G>A (p.Val718Met)
|
rs140952803
|
0.00014
|
NM_194454.3(KRIT1):c.*331G>A
|
rs888560477
|
0.00012
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00012
|
NM_194456.1(KRIT1):c.*1357A>C
|
rs1001963724
|
0.00012
|
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile)
|
rs139690878
|
0.00011
|
NM_194454.3(KRIT1):c.*182A>G
|
rs1047129442
|
0.00010
|
NM_194454.3(KRIT1):c.*371_*372insG
|
rs886062488
|
0.00009
|
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser)
|
rs202120786
|
0.00006
|
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala)
|
rs140396626
|
0.00006
|
NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys)
|
rs376805857
|
0.00005
|
NM_194454.3(KRIT1):c.*1205T>C
|
rs183584214
|
0.00004
|
NM_194454.3(KRIT1):c.*648A>G
|
rs1016578182
|
0.00004
|
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)
|
rs182763805
|
0.00004
|
NM_194454.3(KRIT1):c.1436A>C (p.Lys479Thr)
|
rs576080477
|
0.00004
|
NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala)
|
rs142071709
|
0.00004
|
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn)
|
rs760437448
|
0.00004
|
NM_194454.3(KRIT1):c.*578A>G
|
rs886062485
|
0.00003
|
NM_194454.3(KRIT1):c.391A>G (p.Ile131Val)
|
rs762248954
|
0.00003
|
NM_194454.3(KRIT1):c.499C>T (p.Arg167Cys)
|
rs35350895
|
0.00003
|
NM_194454.3(KRIT1):c.846-15C>T
|
rs527439925
|
0.00003
|
NM_194454.3(KRIT1):c.-174C>A
|
rs886062491
|
0.00002
|
NM_194454.3(KRIT1):c.-291T>C
|
rs983066692
|
0.00002
|
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)
|
rs370360812
|
0.00002
|
NM_194454.3(KRIT1):c.*77T>C
|
rs1330882008
|
0.00001
|
NM_194454.3(KRIT1):c.-421+185C>A
|
rs948520161
|
0.00001
|
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met)
|
rs533696377
|
0.00001
|
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg)
|
rs1195083508
|
0.00001
|
NM_194454.3(KRIT1):c.1208A>G (p.Asn403Ser)
|
rs760935725
|
0.00001
|
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala)
|
rs1230178894
|
0.00001
|
NM_194454.3(KRIT1):c.1563+6C>T
|
rs1379958318
|
0.00001
|
NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr)
|
rs758188972
|
0.00001
|
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)
|
rs369915828
|
0.00001
|
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg)
|
rs1051131327
|
0.00001
|
NM_194454.3(KRIT1):c.2155G>T (p.Val719Leu)
|
rs759149249
|
0.00001
|
NM_194454.3(KRIT1):c.2189T>C (p.Met730Thr)
|
rs1251580650
|
0.00001
|
NM_194454.3(KRIT1):c.296T>A (p.Leu99Gln)
|
rs1445866560
|
0.00001
|
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr)
|
rs1172939308
|
0.00001
|
NM_194454.3(KRIT1):c.500G>A (p.Arg167His)
|
rs374246090
|
0.00001
|
NM_194454.3(KRIT1):c.547C>G (p.Leu183Val)
|
rs1161802228
|
0.00001
|
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg)
|
rs765542241
|
0.00001
|
NM_194454.3(KRIT1):c.*1029T>G
|
rs972529527
|
|
NM_194454.3(KRIT1):c.*102C>T
|
rs1789932075
|
|
NM_194454.3(KRIT1):c.*436C>T
|
rs886062487
|
|
NM_194454.3(KRIT1):c.*450A>T
|
rs1488573456
|
|
NM_194454.3(KRIT1):c.*62A>C
|
rs886062490
|
|
NM_194454.3(KRIT1):c.*859C>T
|
rs1789797274
|
|
NM_194454.3(KRIT1):c.*8G>A
|
rs1789950973
|
|
NM_194454.3(KRIT1):c.*918C>T
|
rs1789789119
|
|
NM_194454.3(KRIT1):c.-307A>T
|
rs886062492
|
|
NM_194454.3(KRIT1):c.-394C>T
|
rs886062493
|
|
NM_194454.3(KRIT1):c.-420-276C>G
|
rs886062494
|
|
NM_194454.3(KRIT1):c.-421+240C>G
|
rs886062495
|
|
NM_194454.3(KRIT1):c.103-6T>G
|
|
|
NM_194454.3(KRIT1):c.1036T>A (p.Cys346Ser)
|
rs1131691991
|
|
NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu)
|
rs1209027515
|
|
NM_194454.3(KRIT1):c.1096G>A (p.Gly366Arg)
|
|
|
NM_194454.3(KRIT1):c.1117A>G (p.Ile373Val)
|
|
|
NM_194454.3(KRIT1):c.1127A>T (p.Asn376Ile)
|
|
|
NM_194454.3(KRIT1):c.112C>T (p.His38Tyr)
|
|
|
NM_194454.3(KRIT1):c.1145G>A (p.Arg382Lys)
|
|
|
NM_194454.3(KRIT1):c.1150A>G (p.Ile384Val)
|
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.125T>C (p.Ile42Thr)
|
rs778226731
|
|
NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln)
|
rs778239873
|
|
NM_194454.3(KRIT1):c.1302T>A (p.Val434=)
|
|
|
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser)
|
|
|
NM_194454.3(KRIT1):c.1338G>C (p.Gln446His)
|
|
|
NM_194454.3(KRIT1):c.1342A>G (p.Met448Val)
|
|
|
NM_194454.3(KRIT1):c.1354C>T (p.Arg452Cys)
|
|
|
NM_194454.3(KRIT1):c.1355G>T (p.Arg452Leu)
|
rs201272513
|
|
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu)
|
rs138431665
|
|
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
|
|
|
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_194454.3(KRIT1):c.1411+22T>A
|
|
|
NM_194454.3(KRIT1):c.1411+2_1411+5del
|
|
|
NM_194454.3(KRIT1):c.1412-3C>G
|
|
|
NM_194454.3(KRIT1):c.1419A>G (p.Gln473=)
|
rs748732288
|
|
NM_194454.3(KRIT1):c.1453C>T (p.Arg485Cys)
|
|
|
NM_194454.3(KRIT1):c.1456G>A (p.Asp486Asn)
|
|
|
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=)
|
rs1563263055
|
|
NM_194454.3(KRIT1):c.1564-8_1564-4del
|
|
|
NM_194454.3(KRIT1):c.1564A>G (p.Ile522Val)
|
|
|
NM_194454.3(KRIT1):c.1572C>A (p.Asp524Glu)
|
|
|
NM_194454.3(KRIT1):c.1600G>A (p.Glu534Lys)
|
|
|
NM_194454.3(KRIT1):c.1631A>G (p.Tyr544Cys)
|
|
|
NM_194454.3(KRIT1):c.1658C>T (p.Thr553Ile)
|
|
|
NM_194454.3(KRIT1):c.1681A>G (p.Ile561Val)
|
|
|
NM_194454.3(KRIT1):c.1687T>C (p.Tyr563His)
|
rs2131326573
|
|
NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)
|
|
|
NM_194454.3(KRIT1):c.1717C>G (p.Gln573Glu)
|
|
|
NM_194454.3(KRIT1):c.1730+6T>G
|
rs1554504391
|
|
NM_194454.3(KRIT1):c.1731-3C>G
|
|
|
NM_194454.3(KRIT1):c.1731-5T>C
|
|
|
NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile)
|
|
|
NM_194454.3(KRIT1):c.1759G>A (p.Val587Ile)
|
rs2131316594
|
|
NM_194454.3(KRIT1):c.1771A>G (p.Lys591Glu)
|
rs2131316490
|
|
NM_194454.3(KRIT1):c.1775G>C (p.Ser592Thr)
|
|
|
NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser)
|
rs954641073
|
|
NM_194454.3(KRIT1):c.1813T>C (p.Tyr605His)
|
|
|
NM_194454.3(KRIT1):c.1818+3A>C
|
|
|
NM_194454.3(KRIT1):c.182A>T (p.Asn61Ile)
|
rs931432552
|
|
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg)
|
rs1563240863
|
|
NM_194454.3(KRIT1):c.1942G>A (p.Ala648Thr)
|
|
|
NM_194454.3(KRIT1):c.1943C>T (p.Ala648Val)
|
rs2131308052
|
|
NM_194454.3(KRIT1):c.1970C>T (p.Pro657Leu)
|
|
|
NM_194454.3(KRIT1):c.1972G>A (p.Val658Met)
|
|
|
NM_194454.3(KRIT1):c.1974G>A (p.Val658=)
|
rs780889522
|
|
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)
|
|
|
NM_194454.3(KRIT1):c.1996G>C (p.Gly666Arg)
|
|
|
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg)
|
rs1563239999
|
|
NM_194454.3(KRIT1):c.2002C>A (p.His668Asn)
|
|
|
NM_194454.3(KRIT1):c.2014A>C (p.Met672Leu)
|
|
|
NM_194454.3(KRIT1):c.2025+3A>G
|
|
|
NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)
|
|
|
NM_194454.3(KRIT1):c.2061G>A (p.Met687Ile)
|
|
|
NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met)
|
|
|
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)
|
|
|
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1])
|
rs764839013
|
|
NM_194454.3(KRIT1):c.2116A>G (p.Met706Val)
|
|
|
NM_194454.3(KRIT1):c.215T>C (p.Val72Ala)
|
|
|
NM_194454.3(KRIT1):c.2165T>A (p.Leu722Ter)
|
rs2131078017
|
|
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg)
|
rs1799505965
|
|
NM_194454.3(KRIT1):c.244G>A (p.Ala82Thr)
|
|
|
NM_194454.3(KRIT1):c.29C>G (p.Ala10Gly)
|
rs1057518241
|
|
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg)
|
rs1057521140
|
|
NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr)
|
rs764760437
|
|
NM_194454.3(KRIT1):c.405A>C (p.Leu135Phe)
|
|
|
NM_194454.3(KRIT1):c.421G>A (p.Val141Ile)
|
rs2131675934
|
|
NM_194454.3(KRIT1):c.443A>G (p.His148Arg)
|
rs2131675658
|
|
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala)
|
rs774330517
|
|
NM_194454.3(KRIT1):c.47G>C (p.Arg16Pro)
|
rs1313893193
|
|
NM_194454.3(KRIT1):c.482A>G (p.Asp161Gly)
|
rs1563309238
|
|
NM_194454.3(KRIT1):c.491T>C (p.Leu164Ser)
|
rs1739707829
|
|
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe)
|
rs2131664007
|
|
NM_194454.3(KRIT1):c.506C>G (p.Ala169Gly)
|
|
|
NM_194454.3(KRIT1):c.536G>A (p.Arg179Gln)
|
|
|
NM_194454.3(KRIT1):c.539C>A (p.Pro180His)
|
|
|
NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)
|
|
|
NM_194454.3(KRIT1):c.625G>A (p.Gly209Ser)
|
|
|
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu)
|
rs1563305909
|
|
NM_194454.3(KRIT1):c.647A>G (p.Lys216Arg)
|
|
|
NM_194454.3(KRIT1):c.673G>A (p.Ala225Thr)
|
|
|
NM_194454.3(KRIT1):c.689A>G (p.Tyr230Cys)
|
|
|
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg)
|
rs1799792039
|
|
NM_194454.3(KRIT1):c.702T>C (p.Phe234=)
|
rs1374778171
|
|
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe)
|
rs1563305220
|
|
NM_194454.3(KRIT1):c.721A>G (p.Thr241Ala)
|
|
|
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp)
|
rs1387764812
|
|
NM_194454.3(KRIT1):c.728G>A (p.Arg243Gln)
|
|
|
NM_194454.3(KRIT1):c.729+5G>A
|
rs1468613071
|
|
NM_194454.3(KRIT1):c.729G>C (p.Arg243=)
|
rs749407592
|
|
NM_194454.3(KRIT1):c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA
|
|
|
NM_194454.3(KRIT1):c.74C>T (p.Ser25Phe)
|
|
|
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys)
|
rs1798075445
|
|
NM_194454.3(KRIT1):c.845+10C>G
|
rs372125478
|
|
NM_194454.3(KRIT1):c.846-8A>G
|
|
|
NM_194454.3(KRIT1):c.871C>T (p.Pro291Ser)
|
|
|
NM_194454.3(KRIT1):c.886G>A (p.Ala296Thr)
|
|
|
NM_194454.3(KRIT1):c.896G>A (p.Gly299Glu)
|
|
|
NM_194454.3(KRIT1):c.917G>A (p.Arg306His)
|
|
|
NM_194454.3(KRIT1):c.92A>T (p.Lys31Met)
|
rs1367968203
|
|
NM_194454.3(KRIT1):c.938C>T (p.Ser313Leu)
|
|
|
NM_194454.3(KRIT1):c.947A>C (p.Gln316Pro)
|
|
|
NM_194454.3(KRIT1):c.947A>G (p.Gln316Arg)
|
|
|
NM_194454.3(KRIT1):c.950T>C (p.Leu317Ser)
|
|
|
NM_194454.3(KRIT1):c.989+7G>A
|
rs1326157197
|
|
NM_194456.1(KRIT1):c.*1457T>C
|
rs1789727080
|
|
NM_194456.1(KRIT1):c.*1555A>G
|
rs1789715493
|
|
NM_194456.1(KRIT1):c.*1655T>G
|
rs886062484
|
|