NC_000023.11:g.129736814C>A
|
rs3788853
|
0.21748
|
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys)
|
rs116107386
|
0.00898
|
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)
|
rs138292988
|
0.00725
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp)
|
rs151325121
|
0.00010
|
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg)
|
rs187015338
|
0.00006
|
NM_000374.5(UROD):c.636+1G>C
|
rs145195562
|
0.00003
|
NM_000374.5(UROD):c.842G>T (p.Gly281Val)
|
rs121918057
|
0.00003
|
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro)
|
rs387906914
|
0.00002
|
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys)
|
rs201363394
|
0.00001
|
NM_000301.5(PLG):c.988A>G (p.Lys330Glu)
|
rs889957249
|
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.912C>A (p.Asn304Lys)
|
rs121918065
|
0.00001
|
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)
|
rs121918061
|
0.00001
|
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser)
|
rs746467957
|
0.00001
|
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser)
|
rs764987358
|
0.00001
|
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser)
|
rs281875215
|
0.00001
|
NM_001378687.1(ATP2C1):c.2126+1G>A
|
rs748204512
|
0.00001
|
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter)
|
rs397514630
|
0.00001
|
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp)
|
rs199932303
|
0.00001
|
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)
|
rs1256778304
|
0.00001
|
HAVCR1, 6-AA INS
|
|
|
NC_000011.10:g.57597582C>T
|
rs2135304804
|
|
NG_009625.1:g.(13995_19163)_(19384_21774)del
|
|
|
NM_000062.3(SERPING1):c.1249+1G>T
|
rs112565881
|
|
NM_000062.3(SERPING1):c.1264del (p.Ser422fs)
|
rs1554996817
|
|
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter)
|
rs1554996819
|
|
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
|
|
|
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)
|
rs606231141
|
|
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)
|
rs121907949
|
|
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)
|
rs121907947
|
|
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser)
|
rs763451792
|
|
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser)
|
rs28940870
|
|
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)
|
rs28940870
|
|
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)
|
rs121907948
|
|
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter)
|
rs121907951
|
|
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer)
|
rs1554995271
|
|
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp)
|
rs753212327
|
|
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)
|
rs121913517
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)
|
rs121913682
|
|
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)
|
rs993022333
|
|
NM_000301.5(PLG):c.2183T>A (p.Val728Glu)
|
rs1582955358
|
|
NM_000374.5(UROD):c.185C>T (p.Pro62Leu)
|
rs121918060
|
|
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.942G>A (p.Glu314=)
|
rs121918062
|
|
NM_000374.5(UROD):c.995G>A (p.Arg332His)
|
rs121918066
|
|
NM_000505.4(F12):c.983C>A (p.Thr328Lys)
|
rs118204456
|
|
NM_000505.4(F12):c.983C>G (p.Thr328Arg)
|
rs118204456
|
|
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys)
|
rs765933558
|
|
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala)
|
rs1369253342
|
|
NM_001366385.1(CARD14):c.349+5G>A
|
rs587777763
|
|
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys)
|
rs281875212
|
|
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly)
|
rs281875213
|
|
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter)
|
rs137853013
|
|
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe)
|
rs137853014
|
|
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro)
|
rs137853015
|
|
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs)
|
rs1057517706
|
|
NM_001378687.1(ATP2C1):c.2460del (p.Met820fs)
|
rs1560033613
|
|
NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs)
|
rs1559971447
|
|
NM_001378687.1(ATP2C1):c.900-1G>A
|
rs1559982055
|
|
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr)
|
rs137853012
|
|
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg)
|
rs397514629
|
|
NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)
|
rs199718602
|
|