NM_194454.3(KRIT1):c.989+63C>G
|
rs2027950
|
0.57036
|
NM_194454.3(KRIT1):c.1818+146A>G
|
rs74603220
|
0.10873
|
NM_194454.3(KRIT1):c.1980A>G (p.Val660=)
|
rs11542682
|
0.10861
|
NM_194454.3(KRIT1):c.729+240G>T
|
rs73407588
|
0.03646
|
NM_194454.3(KRIT1):c.*272G>A
|
rs28502064
|
0.02669
|
NM_194454.3(KRIT1):c.486-193T>C
|
rs75654928
|
0.01703
|
NM_194454.3(KRIT1):c.*141C>T
|
rs117325194
|
0.00554
|
NM_194456.1(KRIT1):c.*1363T>G
|
rs148980420
|
0.00355
|
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)
|
rs138763545
|
0.00264
|
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)
|
rs143710815
|
0.00238
|
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.1245T>G (p.Ile415Met)
|
rs41278788
|
0.00194
|
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)
|
rs140009885
|
0.00187
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)
|
rs34358665
|
0.00097
|
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=)
|
rs145605400
|
0.00054
|
NM_194454.3(KRIT1):c.845+10C>T
|
rs372125478
|
0.00026
|
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)
|
rs370766145
|
0.00016
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00012
|
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile)
|
rs139690878
|
0.00011
|
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser)
|
rs202120786
|
0.00006
|
NM_194454.3(KRIT1):c.264A>G (p.Gly88=)
|
rs201877439
|
0.00006
|
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala)
|
rs140396626
|
0.00006
|
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.-346G>A
|
rs1002702257
|
0.00001
|
NM_194454.3(KRIT1):c.1041T>C (p.Asn347=)
|
rs373275660
|
0.00001
|
NM_194454.3(KRIT1):c.1306T>C (p.Leu436=)
|
rs998452517
|
0.00001
|
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala)
|
rs1230178894
|
0.00001
|
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)
|
rs369915828
|
0.00001
|
NM_194454.3(KRIT1):c.2026-12A>G
|
rs1041438637
|
0.00001
|
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg)
|
rs1051131327
|
0.00001
|
NM_194454.3(KRIT1):c.2160A>G (p.Lys720=)
|
rs1178875536
|
0.00001
|
NM_194454.3(KRIT1):c.262+142T>G
|
rs1485549584
|
0.00001
|
NM_194454.3(KRIT1):c.276A>G (p.Val92=)
|
rs573853526
|
0.00001
|
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr)
|
rs1172939308
|
0.00001
|
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg)
|
rs765542241
|
0.00001
|
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)
|
rs374662170
|
0.00001
|
GRCh37/hg19 7q21.2(chr7:91809746-91836087)x1
|
|
|
GRCh37/hg19 7q21.2(chr7:91830050-91830737)x1
|
|
|
NM_194454.3(KRIT1):c.1031del (p.Gly344fs)
|
rs1563279045
|
|
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.1084del (p.Ala362fs)
|
rs1554518541
|
|
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs)
|
rs1796247872
|
|
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)
|
rs780114710
|
|
NM_194454.3(KRIT1):c.1146+1G>A
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1146+1G>C
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1146+1G>T
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1146+3_1146+4del
|
rs1554518369
|
|
NM_194454.3(KRIT1):c.1146+4_1146+8del
|
rs2131525308
|
|
NM_194454.3(KRIT1):c.1151_1152insG (p.Ile384fs)
|
rs1796090545
|
|
NM_194454.3(KRIT1):c.1166del (p.Gly389fs)
|
rs2131511467
|
|
NM_194454.3(KRIT1):c.1192_1204del (p.Glu398fs)
|
rs886041557
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1237_1240del (p.Glu413fs)
|
rs1563275256
|
|
NM_194454.3(KRIT1):c.1237del (p.Glu413fs)
|
rs1563275284
|
|
NM_194454.3(KRIT1):c.1255-1G>A
|
rs1563267100
|
|
NM_194454.3(KRIT1):c.1255-296del
|
rs568078150
|
|
NM_194454.3(KRIT1):c.1255-2A>G
|
rs1795437460
|
|
NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs)
|
rs1563266994
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_194454.3(KRIT1):c.1287del (p.Ser430fs)
|
rs2131454847
|
|
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs)
|
rs2131454847
|
|
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs)
|
rs1563266658
|
|
NM_194454.3(KRIT1):c.1308G>A (p.Leu436=)
|
rs1190790030
|
|
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser)
|
|
|
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter)
|
rs2131454006
|
|
NM_194454.3(KRIT1):c.1355_1356del (p.Arg452fs)
|
rs886041415
|
|
NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs)
|
rs1563266256
|
|
NM_194454.3(KRIT1):c.1358dup (p.Ser454fs)
|
rs1563266277
|
|
NM_194454.3(KRIT1):c.1359C>T (p.Leu453=)
|
rs1584881048
|
|
NM_194454.3(KRIT1):c.1360_1363del (p.Ser454fs)
|
rs1180476377
|
|
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)
|
rs1180476377
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)
|
rs1563266163
|
|
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)
|
rs1563265959
|
|
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1406dup (p.Asn469fs)
|
rs1563265838
|
|
NM_194454.3(KRIT1):c.1411+181G>A
|
rs112410984
|
|
NM_194454.3(KRIT1):c.1411+22T>A
|
|
|
NM_194454.3(KRIT1):c.1412-1G>C
|
rs1554513070
|
|
NM_194454.3(KRIT1):c.1412-2A>C
|
rs1563264113
|
|
NM_194454.3(KRIT1):c.141_145del (p.Arg49fs)
|
rs770594592
|
|
NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs)
|
rs1563264033
|
|
NM_194454.3(KRIT1):c.1425A>G (p.Lys475=)
|
rs1017236415
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_194454.3(KRIT1):c.1470dup (p.Leu491fs)
|
rs1563263604
|
|
NM_194454.3(KRIT1):c.1474dup (p.Ala492fs)
|
rs1554512816
|
|
NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter)
|
rs1563263545
|
|
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)
|
rs1563263366
|
|
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs)
|
rs886041209
|
|
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)
|
rs1057517754
|
|
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)
|
rs886039400
|
|
NM_194454.3(KRIT1):c.1563+1G>A
|
rs549591728
|
|
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=)
|
rs1563263055
|
|
NM_194454.3(KRIT1):c.1564-1G>A
|
|
|
NM_194454.3(KRIT1):c.1564-316A>T
|
rs10271533
|
|
NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr)
|
rs374303823
|
|
NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs)
|
rs1793597181
|
|
NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter)
|
rs1563245596
|
|
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs)
|
rs1563245290
|
|
NM_194454.3(KRIT1):c.1666del (p.Ser556fs)
|
rs1563245191
|
|
NM_194454.3(KRIT1):c.1685dup (p.Tyr563fs)
|
rs886041572
|
|
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer)
|
rs1554504484
|
|
NM_194454.3(KRIT1):c.1710del (p.Lys570fs)
|
rs1563244807
|
|
NM_194454.3(KRIT1):c.1730+3A>C
|
rs1563244629
|
|
NM_194454.3(KRIT1):c.1730+4_1730+7del
|
rs1563244596
|
|
NM_194454.3(KRIT1):c.1730+5G>A
|
rs1563244618
|
|
NM_194454.3(KRIT1):c.1731-2A>G
|
rs886039571
|
|
NM_194454.3(KRIT1):c.1731-3C>A
|
rs1563243075
|
|
NM_194454.3(KRIT1):c.1731-5T>C
|
|
|
NM_194454.3(KRIT1):c.1739del (p.Asn580fs)
|
rs1563243016
|
|
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs)
|
rs1584800138
|
|
NM_194454.3(KRIT1):c.1754dup (p.Pro586fs)
|
rs1563242899
|
|
NM_194454.3(KRIT1):c.1759G>A (p.Val587Ile)
|
rs2131316594
|
|
NM_194454.3(KRIT1):c.1762dup (p.Thr588fs)
|
rs1554503705
|
|
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)
|
rs1554503702
|
|
NM_194454.3(KRIT1):c.1775del (p.Ser592fs)
|
rs1563242833
|
|
NM_194454.3(KRIT1):c.1807del (p.His603fs)
|
rs886039572
|
|
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter)
|
rs1563242500
|
|
NM_194454.3(KRIT1):c.1823_1824del (p.Leu608fs)
|
rs1554503202
|
|
NM_194454.3(KRIT1):c.182A>T (p.Asn61Ile)
|
rs931432552
|
|
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter)
|
rs1554503116
|
|
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer)
|
rs2131308944
|
|
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg)
|
rs1563240863
|
|
NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs)
|
rs1563240821
|
|
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter)
|
rs140072597
|
|
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)
|
rs1563240592
|
|
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs)
|
rs1064793348
|
|
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
|
|
|
NM_194454.3(KRIT1):c.1967del (p.Ile656fs)
|
|
|
NM_194454.3(KRIT1):c.1970dup (p.Val658fs)
|
rs1554502838
|
|
NM_194454.3(KRIT1):c.1981G>T (p.Gly661Ter)
|
|
|
NM_194454.3(KRIT1):c.1A>G (p.Met1Val)
|
rs1554539120
|
|
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg)
|
rs1563239999
|
|
NM_194454.3(KRIT1):c.2007C>T (p.Leu669=)
|
rs1584794752
|
|
NM_194454.3(KRIT1):c.2025+2T>C
|
rs1563239833
|
|
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met)
|
|
|
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)
|
|
|
NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)
|
rs1563211839
|
|
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)
|
rs1563211627
|
|
NM_194454.3(KRIT1):c.2139del (p.Lys713fs)
|
rs1563211361
|
|
NM_194454.3(KRIT1):c.2142+2dup
|
|
|
NM_194454.3(KRIT1):c.2143-1G>C
|
rs1554489785
|
|
NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)
|
rs1563321624
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg)
|
rs1057521140
|
|
NM_194454.3(KRIT1):c.363_369del (p.Lys122fs)
|
rs1563309967
|
|
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs)
|
rs757560062
|
|
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)
|
rs866982998
|
|
NM_194454.3(KRIT1):c.477C>T (p.Ala159=)
|
rs1584988756
|
|
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.485+65G>C
|
rs17164451
|
|
NM_194454.3(KRIT1):c.486-1G>A
|
rs1554529341
|
|
NM_194454.3(KRIT1):c.486-2A>G
|
rs965713946
|
|
NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter)
|
rs1563307254
|
|
NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter)
|
rs1563307239
|
|
NM_194454.3(KRIT1):c.539C>A (p.Pro180His)
|
|
|
NM_194454.3(KRIT1):c.587del (p.Ala196fs)
|
rs1563306485
|
|
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)
|
rs137853140
|
|
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu)
|
rs1563305909
|
|
NM_194454.3(KRIT1):c.674del (p.Ala225fs)
|
rs1563305648
|
|
NM_194454.3(KRIT1):c.679dup (p.Thr227fs)
|
rs1563305588
|
|
NM_194454.3(KRIT1):c.690C>G (p.Tyr230Ter)
|
rs1554528662
|
|
NM_194454.3(KRIT1):c.699del (p.Leu233fs)
|
rs2131660732
|
|
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)
|
rs1563305269
|
|
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe)
|
rs1563305220
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp)
|
rs1387764812
|
|
NM_194454.3(KRIT1):c.729+1G>A
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.729+5G>A
|
rs1468613071
|
|
NM_194454.3(KRIT1):c.730-1G>A
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-1G>C
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-93A>G
|
rs73407587
|
|
NM_194454.3(KRIT1):c.730G>T (p.Val244Leu)
|
rs1554527919
|
|
NM_194454.3(KRIT1):c.790_794del (p.Gln264fs)
|
rs1563303222
|
|
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)
|
rs886039659
|
|
NM_194454.3(KRIT1):c.842del (p.Asp281fs)
|
rs1563302951
|
|
NM_194454.3(KRIT1):c.845+1G>A
|
rs1563302941
|
|
NM_194454.3(KRIT1):c.845+2T>A
|
rs1563302930
|
|
NM_194454.3(KRIT1):c.846-8A>G
|
|
|
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)
|
rs764960797
|
|
NM_194454.3(KRIT1):c.896G>A (p.Gly299Glu)
|
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.907_913del (p.Leu303fs)
|
rs1057517752
|
|
NM_194454.3(KRIT1):c.92A>T (p.Lys31Met)
|
rs1367968203
|
|
NM_194454.3(KRIT1):c.937dup (p.Ser313fs)
|
rs1554527032
|
|
NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs)
|
rs1563301527
|
|
NM_194454.3(KRIT1):c.972del (p.Ile325fs)
|
rs1563301305
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NM_194454.3(KRIT1):c.999del (p.Val334fs)
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rs1554518750
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Single allele
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