NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)
|
rs143587828
|
0.00030
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_000431.4(MVK):c.346T>C (p.Tyr116His)
|
rs104895382
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_000431.4(MVK):c.14T>C (p.Val5Ala)
|
rs141765653
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)
|
rs1318653026
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)
|
rs104886040
|
0.00002
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)
|
rs779709646
|
0.00001
|
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)
|
rs770819693
|
0.00001
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)
|
rs121912195
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)
|
rs387906939
|
0.00001
|
NM_001360.3(DHCR7):c.1066del (p.His356fs)
|
rs774291653
|
|
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)
|
rs1591107421
|
|
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)
|
rs140791666
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs)
|
rs1591107062
|
|
NM_001360.3(DHCR7):c.322-1G>A
|
rs1565588719
|
|
NM_001360.3(DHCR7):c.355del (p.His119fs)
|
rs747827699
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
NM_001360.3(DHCR7):c.626+2dup
|
rs1591111319
|
|
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter)
|
rs1591109892
|
|
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)
|
rs121909764
|
|
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)
|
rs886041354
|
|
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)
|
rs1555146021
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.963+1G>T
|
rs1057516973
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001360.3(DHCR7):c.995del (p.Leu332fs)
|
rs1057516618
|
|
NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)
|
|
|
NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser)
|
rs1557437639
|
|
NM_014762.4(DHCR24):c.958G>T (p.Glu320Ter)
|
rs1646962392
|
|
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
|
|
|