NM_194454.3(KRIT1):c.1980A>G (p.Val660=)
|
rs11542682
|
0.10861
|
NM_194454.3(KRIT1):c.*141C>T
|
rs117325194
|
0.00554
|
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.-2-7T>C
|
rs550533414
|
0.00029
|
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)
|
rs150912644
|
0.00023
|
NM_194454.3(KRIT1):c.510A>G (p.Gln170=)
|
rs200684252
|
0.00018
|
NM_194454.3(KRIT1):c.845+9T>G
|
rs140152251
|
0.00014
|
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile)
|
rs139690878
|
0.00011
|
NM_194454.3(KRIT1):c.1752C>T (p.Ile584=)
|
rs148836047
|
0.00011
|
NM_194454.3(KRIT1):c.1809T>C (p.His603=)
|
rs149754162
|
0.00011
|
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)
|
rs370766145
|
0.00009
|
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.-346G>A
|
rs1002702257
|
0.00001
|
NM_194454.3(KRIT1):c.2026-12A>G
|
rs1041438637
|
0.00001
|
NM_194454.3(KRIT1):c.262+142T>G
|
rs1485549584
|
0.00001
|
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)
|
rs374662170
|
0.00001
|
NM_194454.3(KRIT1):c.*127G>A
|
|
|
NM_194454.3(KRIT1):c.1031del (p.Gly344fs)
|
rs1563279045
|
|
NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu)
|
rs1209027515
|
|
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.1147-13C>G
|
rs779465895
|
|
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)
|
rs1331502949
|
|
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.1255-1_1256del
|
rs1554514380
|
|
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.1306_1310del (p.Leu436fs)
|
rs1563266658
|
|
NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs)
|
rs1563266256
|
|
NM_194454.3(KRIT1):c.1358dup (p.Ser454fs)
|
rs1563266277
|
|
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.1384A>G (p.Thr462Ala)
|
|
|
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)
|
rs1563265959
|
|
NM_194454.3(KRIT1):c.1406dup (p.Asn469fs)
|
rs1563265838
|
|
NM_194454.3(KRIT1):c.1411+20_1411+24del
|
rs886038758
|
|
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.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_194454.3(KRIT1):c.1470dup (p.Leu491fs)
|
rs1563263604
|
|
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.1564-8_1564-4del
|
|
|
NM_194454.3(KRIT1):c.1572C>A (p.Asp524Glu)
|
|
|
NM_194454.3(KRIT1):c.1593_1594del (p.Leu531_Phe532insTer)
|
|
|
NM_194454.3(KRIT1):c.1606A>T (p.Arg536Ter)
|
|
|
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.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.1731-3C>A
|
rs1563243075
|
|
NM_194454.3(KRIT1):c.1739del (p.Asn580fs)
|
rs1563243016
|
|
NM_194454.3(KRIT1):c.1754dup (p.Pro586fs)
|
rs1563242899
|
|
NM_194454.3(KRIT1):c.1807del (p.His603fs)
|
rs886039572
|
|
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter)
|
rs1563242500
|
|
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter)
|
rs1554503116
|
|
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.1927C>T (p.Gln643Ter)
|
rs1563240592
|
|
NM_194454.3(KRIT1):c.1972G>A (p.Val658Met)
|
|
|
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.2025+2T>C
|
rs1563239833
|
|
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)
|
rs1563211839
|
|
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)
|
rs1563211627
|
|
NM_194454.3(KRIT1):c.2116A>G (p.Met706Val)
|
|
|
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.2151C>T (p.Leu717=)
|
|
|
NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)
|
rs1563321624
|
|
NM_194454.3(KRIT1):c.262+133A>G
|
|
|
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.355+29_355+30del
|
rs574142144
|
|
NM_194454.3(KRIT1):c.363_369del (p.Lys122fs)
|
rs1563309967
|
|
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)
|
rs866982998
|
|
NM_194454.3(KRIT1):c.486-37C>G
|
rs200000378
|
|
NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter)
|
rs1563307254
|
|
NM_194454.3(KRIT1):c.525A>C (p.Pro175=)
|
|
|
NM_194454.3(KRIT1):c.549T>G (p.Leu183=)
|
|
|
NM_194454.3(KRIT1):c.587del (p.Ala196fs)
|
rs1563306485
|
|
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.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.721A>G (p.Thr241Ala)
|
|
|
NM_194454.3(KRIT1):c.729+1G>A
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.730-1G>A
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-1G>C
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.790_794del (p.Gln264fs)
|
rs1563303222
|
|
NM_194454.3(KRIT1):c.829_832dup (p.Val278fs)
|
|
|
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.880C>T (p.Arg294Ter)
|
rs764960797
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs)
|
rs1563301527
|
|
NM_194454.3(KRIT1):c.950T>C (p.Leu317Ser)
|
|
|
NM_194454.3(KRIT1):c.972del (p.Ile325fs)
|
rs1563301305
|
|