NM_194454.3(KRIT1):c.2026-12A>G
|
rs1041438637
|
0.00001
|
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)
|
rs374662170
|
0.00001
|
GRCh37/hg19 7q21.2(chr7:91809746-91836087)x1
|
|
|
NM_194454.3(KRIT1):c.1031del (p.Gly344fs)
|
rs1563279045
|
|
NM_194454.3(KRIT1):c.1084del (p.Ala362fs)
|
rs1554518541
|
|
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs)
|
rs1796247872
|
|
NM_194454.3(KRIT1):c.1146+1G>A
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1146+1G>T
|
rs886039401
|
|
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.1255-1G>A
|
rs1563267100
|
|
NM_194454.3(KRIT1):c.1255-2A>G
|
rs1795437460
|
|
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.1333C>T (p.Gln445Ter)
|
rs2131454006
|
|
NM_194454.3(KRIT1):c.1355_1356del (p.Arg452fs)
|
rs886041415
|
|
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.1391G>A (p.Trp464Ter)
|
rs1563265959
|
|
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1412-1G>C
|
rs1554513070
|
|
NM_194454.3(KRIT1):c.1412-2A>C
|
rs1563264113
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
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.1564-1G>A
|
|
|
NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs)
|
rs1793597181
|
|
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs)
|
rs1563245290
|
|
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+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.1742_1748dup (p.Ile584fs)
|
rs1584800138
|
|
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.1849G>T (p.Glu617Ter)
|
rs1554503116
|
|
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer)
|
rs2131308944
|
|
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter)
|
rs140072597
|
|
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs)
|
rs1064793348
|
|
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.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)
|
rs1563211627
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs)
|
rs757560062
|
|
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)
|
rs866982998
|
|
NM_194454.3(KRIT1):c.486-1G>A
|
rs1554529341
|
|
NM_194454.3(KRIT1):c.486-2A>G
|
rs965713946
|
|
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)
|
rs137853140
|
|
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.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_194454.3(KRIT1):c.729+1G>A
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.730-1G>A
|
rs1554527922
|
|
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.880C>T (p.Arg294Ter)
|
rs764960797
|
|
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.937dup (p.Ser313fs)
|
rs1554527032
|
|
NM_194454.3(KRIT1):c.999del (p.Val334fs)
|
rs1554518750
|
|