NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
NM_000140.5(FECH):c.801G>A (p.Met267Ile)
|
rs118204037
|
0.00108
|
NM_000140.5(FECH):c.820G>A (p.Asp274Asn)
|
rs146269992
|
0.00007
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
|
rs121912980
|
0.00005
|
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)
|
rs28936677
|
0.00005
|
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)
|
rs118204101
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)
|
rs1374394802
|
0.00003
|
NM_000140.5(FECH):c.314+2T>G
|
rs149067146
|
0.00003
|
NM_000374.5(UROD):c.636+1G>C
|
rs145195562
|
0.00003
|
NM_000374.5(UROD):c.842G>T (p.Gly281Val)
|
rs121918057
|
0.00003
|
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)
|
rs121912982
|
0.00001
|
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr)
|
rs121912983
|
0.00001
|
NM_000031.6(ALAD):c.823G>A (p.Val275Met)
|
rs121912981
|
0.00001
|
NM_000140.3(FECH):c.1078_1137del
|
rs879255507
|
0.00001
|
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr)
|
rs1324421474
|
0.00001
|
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)
|
rs370708663
|
0.00001
|
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)
|
rs118204106
|
0.00001
|
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)
|
rs118204094
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)
|
rs118204113
|
0.00001
|
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)
|
rs118204104
|
0.00001
|
NM_000374.5(UROD):c.346C>T (p.Gln116Ter)
|
rs397514765
|
0.00001
|
NM_000374.5(UROD):c.494T>G (p.Met165Arg)
|
rs121918063
|
0.00001
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
NM_000374.5(UROD):c.912C>A (p.Asn304Lys)
|
rs121918065
|
0.00001
|
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)
|
rs121918061
|
0.00001
|
NM_001098.3(ACO2):c.76C>T (p.Leu26=)
|
rs1057518832
|
0.00001
|
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)
|
rs374936130
|
0.00001
|
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)
|
rs41270025
|
0.00001
|
NG_008093.1:g.9237_9238insAluYa59225_9237dup
|
|
|
NM_000031.6(ALAD):c.165-11C>A
|
rs749066913
|
|
NM_000031.6(ALAD):c.165-11C>T
|
rs749066913
|
|
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)
|
rs397514730
|
|
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs)
|
rs879255567
|
|
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)
|
rs387906473
|
|
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)
|
rs387906472
|
|
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)
|
rs1576306536
|
|
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
|
|
|
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
|
|
|
NM_000140.5(FECH):c.1077+1G>A
|
rs786205245
|
|
NM_000140.5(FECH):c.1085T>G (p.Val362Gly)
|
rs118204040
|
|
NM_000140.5(FECH):c.1136del (p.Lys379fs)
|
rs764466739
|
|
NM_000140.5(FECH):c.1137+3A>G
|
rs202147607
|
|
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser)
|
rs118204039
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000140.5(FECH):c.194+11A>G
|
rs786205247
|
|
NM_000140.5(FECH):c.286C>T (p.Arg96Ter)
|
rs984041251
|
|
NM_000140.5(FECH):c.314+6A>C
|
rs786205246
|
|
NM_000140.5(FECH):c.40del (p.Ala14fs)
|
|
|
NM_000140.5(FECH):c.553G>A (p.Ala185Thr)
|
rs397514476
|
|
NM_000140.5(FECH):c.580_584del (p.Tyr194fs)
|
rs786205248
|
|
NM_000140.5(FECH):c.598+1G>T
|
rs1598996309
|
|
NM_000140.5(FECH):c.901_902del (p.Trp301fs)
|
rs1430926156
|
|
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys)
|
rs118204105
|
|
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)
|
rs1555206402
|
|
NM_000190.4(HMBS):c.160+5G>C
|
rs1592213590
|
|
NM_000190.4(HMBS):c.174del (p.Thr59fs)
|
rs1565754285
|
|
NM_000190.4(HMBS):c.181dup (p.Asp61fs)
|
rs1565754296
|
|
NM_000190.4(HMBS):c.210+1G>C
|
rs2134859316
|
|
NM_000190.4(HMBS):c.211-1G>A
|
rs1565754452
|
|
NM_000190.4(HMBS):c.211-1G>T
|
rs1565754452
|
|
NM_000190.4(HMBS):c.219_220del (p.Ser75fs)
|
rs1592214498
|
|
NM_000190.4(HMBS):c.266+1G>C
|
rs1565754565
|
|
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)
|
rs118204107
|
|
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)
|
rs1057518886
|
|
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)
|
rs118204120
|
|
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln)
|
rs118204098
|
|
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter)
|
rs118204097
|
|
NM_000190.4(HMBS):c.499-1G>A
|
rs1565756481
|
|
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu)
|
rs118204095
|
|
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)
|
rs118204096
|
|
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
|
|
|
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg)
|
rs118204108
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter)
|
rs118204100
|
|
NM_000190.4(HMBS):c.612G>T (p.Gln204His)
|
rs1592217847
|
|
NM_000190.4(HMBS):c.613-1G>A
|
rs771206317
|
|
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)
|
rs118204116
|
|
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)
|
rs118204110
|
|
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del)
|
rs1555206128
|
|
NM_000190.4(HMBS):c.730_731del (p.Leu244fs)
|
rs1565757839
|
|
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg)
|
rs118204099
|
|
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs)
|
rs1565757857
|
|
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)
|
rs118204111
|
|
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys)
|
rs118204112
|
|
NM_000190.4(HMBS):c.755C>T (p.Ala252Val)
|
rs118204114
|
|
NM_000190.4(HMBS):c.766C>A (p.His256Asn)
|
rs118204115
|
|
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)
|
rs998842815
|
|
NM_000190.4(HMBS):c.771+1G>C
|
rs1565758008
|
|
NM_000190.4(HMBS):c.771G>A (p.Leu257=)
|
rs1555206170
|
|
NM_000190.4(HMBS):c.77G>A (p.Arg26His)
|
rs118204103
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000190.4(HMBS):c.847_848del (p.Trp283fs)
|
rs1592220835
|
|
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter)
|
rs118204117
|
|
NM_000190.4(HMBS):c.900del (p.His300fs)
|
rs1565758825
|
|
NM_000190.4(HMBS):c.912+1G>C
|
|
|
NM_000190.4(HMBS):c.913-1G>A
|
rs1946325053
|
|
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)
|
rs2134885779
|
|
NM_000374.5(UROD):c.185C>T (p.Pro62Leu)
|
rs121918060
|
|
NM_000374.5(UROD):c.21-1G>C
|
rs1644814606
|
|
NM_000374.5(UROD):c.499G>A (p.Glu167Lys)
|
rs121918058
|
|
NM_000374.5(UROD):c.583C>T (p.Leu195Phe)
|
rs121918064
|
|
NM_000374.5(UROD):c.6_15del (p.Glu2fs)
|
rs397514764
|
|
NM_000374.5(UROD):c.842G>A (p.Gly281Glu)
|
rs121918057
|
|
NM_000374.5(UROD):c.874C>G (p.Arg292Gly)
|
rs121918059
|
|
NM_000374.5(UROD):c.904C>T (p.Gln302Ter)
|
rs1569967143
|
|
NM_000374.5(UROD):c.942G>A (p.Glu314=)
|
rs121918062
|
|
NM_000374.5(UROD):c.995G>A (p.Arg332His)
|
rs121918066
|
|
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)
|
|
|
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala)
|
rs28936676
|
|
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs)
|
rs2101902523
|
|
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)
|
rs121918324
|
|
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)
|
rs786204784
|
|
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
|
|
|
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)
|
|
|
NM_001122764.3(PPOX):c.420del (p.Glu141fs)
|
|
|
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)
|
rs121918325
|
|
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)
|
|
|
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs)
|
rs1571357779
|
|
NM_001122764.3(PPOX):c.59A>C (p.His20Pro)
|
rs121918326
|
|
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla)
|
rs2101876868
|
|
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)
|
rs121918323
|
|
NM_001122764.3(PPOX):c.745dup (p.Val249fs)
|
rs1571369150
|
|
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
|
|
|
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)
|
rs1555412542
|
|
PPOX, IVS11DS, G-A, -1
|
|
|
Single allele
|
|
|