NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
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_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
|
NG_008093.1:g.9237_9238insAluYa59225_9237dup
|
|
|
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
|
|