NM_000055.4(BCHE):c.849G>C (p.Glu283Asp)
|
rs16849700
|
0.02374
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
NM_000055.4(BCHE):c.155C>T (p.Thr52Met)
|
rs56309853
|
0.00024
|
NM_000055.4(BCHE):c.1504T>C (p.Phe502Leu)
|
rs769316835
|
0.00019
|
NM_000055.4(BCHE):c.570T>C (p.Ala190=)
|
rs115463466
|
0.00019
|
NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp)
|
rs115017300
|
0.00009
|
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)
|
rs199660374
|
0.00006
|
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)
|
rs115129687
|
0.00003
|
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)
|
rs760485585
|
0.00002
|
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe)
|
rs747598704
|
0.00002
|
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter)
|
rs140080572
|
0.00002
|
NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp)
|
rs770337031
|
0.00001
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)
|
rs745364489
|
0.00001
|
NM_000055.4(BCHE):c.1517+1G>T
|
rs1057517218
|
0.00001
|
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter)
|
rs1057516482
|
0.00001
|
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter)
|
rs1057517144
|
0.00001
|
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys)
|
rs116097205
|
0.00001
|
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter)
|
rs990121358
|
0.00001
|
NM_000055.4(BCHE):c.307G>C (p.Gly103Arg)
|
rs979653503
|
0.00001
|
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)
|
rs115624085
|
0.00001
|
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter)
|
rs747196387
|
0.00001
|
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
|
rs104893684
|
|
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter)
|
rs1057517265
|
|
NM_000055.4(BCHE):c.1027dup (p.Thr343fs)
|
rs754214624
|
|
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter)
|
rs1553778114
|
|
NM_000055.4(BCHE):c.1073dup (p.Leu358fs)
|
rs1057516450
|
|
NM_000055.4(BCHE):c.110del (p.Lys37fs)
|
rs1057517439
|
|
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter)
|
rs1057517221
|
|
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter)
|
rs1278095773
|
|
NM_000055.4(BCHE):c.1240del (p.Arg414fs)
|
rs1057517288
|
|
NM_000055.4(BCHE):c.1259TTG[1] (p.Val421del)
|
rs1398106709
|
|
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter)
|
rs762341786
|
|
NM_000055.4(BCHE):c.1372dup (p.Trp458fs)
|
rs1553778044
|
|
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter)
|
rs1553778017
|
|
NM_000055.4(BCHE):c.149del (p.Gly50fs)
|
rs762189020
|
|
NM_000055.4(BCHE):c.1615dup (p.Met539fs)
|
rs1553774172
|
|
NM_000055.4(BCHE):c.1642C>T (p.Arg548Ter)
|
rs747099939
|
|
NM_000055.4(BCHE):c.1684+1G>T
|
rs1057516496
|
|
NM_000055.4(BCHE):c.1685-2A>G
|
rs779366544
|
|
NM_000055.4(BCHE):c.1703_1720dup (p.Glu568_Ala573dup)
|
rs1553772963
|
|
NM_000055.4(BCHE):c.185C>T (p.Ala62Val)
|
rs1553778274
|
|
NM_000055.4(BCHE):c.206_207del (p.Leu69fs)
|
rs1057516784
|
|
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser)
|
rs3732880
|
|
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs)
|
rs398124632
|
|
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter)
|
rs760182781
|
|
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter)
|
rs1553778291
|
|
NM_000055.4(BCHE):c.493del (p.Glu165fs)
|
rs1057516707
|
|
NM_000055.4(BCHE):c.495_498del (p.Arg166fs)
|
rs772259613
|
|
NM_000055.4(BCHE):c.611del (p.Gln204fs)
|
rs1553778198
|
|
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter)
|
rs568724445
|
|
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter)
|
rs1057517208
|
|
NM_000055.4(BCHE):c.662del (p.Thr221fs)
|
rs1553778185
|
|
NM_000055.4(BCHE):c.666_667del (p.Phe223fs)
|
rs747983616
|
|
NM_000055.4(BCHE):c.687del (p.Ala230fs)
|
rs1553778179
|
|
NM_000055.4(BCHE):c.793del (p.Tyr265fs)
|
rs778568717
|
|