NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
|
rs112292549
|
0.00252
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu)
|
rs61729285
|
0.00106
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)
|
rs61756403
|
0.00083
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
0.00073
|
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)
|
rs142934882
|
0.00068
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)
|
rs142983846
|
0.00054
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)
|
rs138936105
|
0.00046
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
NM_000081.4(LYST):c.692A>G (p.Gln231Arg)
|
rs147433918
|
0.00043
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00043
|
NM_000081.4(LYST):c.6682G>C (p.Asp2228His)
|
rs150270086
|
0.00042
|
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
|
rs144990171
|
0.00039
|
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)
|
rs144666367
|
0.00037
|
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)
|
rs148239625
|
0.00034
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000359.3(TGM1):c.877-2A>G
|
rs142634031
|
0.00027
|
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
|
rs138303522
|
0.00026
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_014339.7(IL17RA):c.2483T>A (p.Leu828His)
|
rs373598318
|
0.00022
|
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)
|
rs182849552
|
0.00022
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000081.4(LYST):c.997C>T (p.His333Tyr)
|
rs140821981
|
0.00021
|
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)
|
rs143473912
|
0.00021
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
|
rs142859678
|
0.00019
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter)
|
rs140352180
|
0.00016
|
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter)
|
rs373000976
|
0.00016
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00016
|
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)
|
rs148371004
|
0.00014
|
NM_004628.5(XPC):c.259G>C (p.Val87Leu)
|
rs374572265
|
0.00014
|
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln)
|
rs558162561
|
0.00013
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_000081.4(LYST):c.2826A>G (p.Pro942=)
|
rs149558986
|
0.00010
|
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp)
|
rs200276917
|
0.00010
|
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)
|
rs567795279
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn)
|
rs138179493
|
0.00009
|
NM_003784.4(SERPINB7):c.522dup (p.Val175fs)
|
rs672601344
|
0.00009
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
|
rs201337542
|
0.00008
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
|
rs763529688
|
0.00008
|
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)
|
rs200755494
|
0.00008
|
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)
|
rs118203935
|
0.00008
|
NM_000081.4(LYST):c.3931A>G (p.Met1311Val)
|
rs376718077
|
0.00007
|
NM_000081.4(LYST):c.476G>A (p.Arg159Lys)
|
rs111806240
|
0.00007
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
|
rs1482156206
|
0.00006
|
NM_000380.4(XPA):c.122C>T (p.Ala41Val)
|
rs778289269
|
0.00006
|
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)
|
rs199562456
|
0.00006
|
NM_018344.6(SLC29A3):c.1204G>A (p.Val402Ile)
|
rs1009541174
|
0.00006
|
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)
|
rs769471250
|
0.00006
|
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
|
rs121912980
|
0.00005
|
NM_002016.2(FLG):c.7487del (p.Thr2496fs)
|
rs774362740
|
0.00005
|
NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter)
|
rs199555021
|
0.00005
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter)
|
rs200564757
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000081.4(LYST):c.1290G>A (p.Met430Ile)
|
rs779163460
|
0.00004
|
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)
|
rs118204101
|
0.00004
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00004
|
NM_004425.4(ECM1):c.1019del (p.Gln340fs)
|
rs778473713
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_015065.3(EXPH5):c.939del (p.Asn314fs)
|
rs747159785
|
0.00004
|
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)
|
rs119471023
|
0.00004
|
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)
|
rs606231276
|
0.00004
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
0.00003
|
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile)
|
rs776033238
|
0.00003
|
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)
|
rs186152859
|
0.00003
|
NM_000081.4(LYST):c.85G>A (p.Ala29Thr)
|
rs755173231
|
0.00003
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu)
|
rs369806569
|
0.00003
|
NM_002016.2(FLG):c.138+1G>C
|
rs756254959
|
0.00003
|
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg)
|
rs772598451
|
0.00003
|
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
|
rs200079039
|
0.00003
|
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe)
|
rs760132893
|
0.00003
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser)
|
rs760815034
|
0.00002
|
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)
|
rs140470472
|
0.00002
|
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys)
|
rs749139864
|
0.00002
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser)
|
rs1481260242
|
0.00001
|
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)
|
rs376496670
|
0.00001
|
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp)
|
rs761351181
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)
|
rs57758262
|
0.00001
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)
|
rs201868387
|
0.00001
|
NM_000374.5(UROD):c.138T>A (p.Phe46Leu)
|
rs769378741
|
0.00001
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter)
|
rs888685157
|
0.00001
|
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr)
|
rs200663524
|
0.00001
|
NM_002016.2(FLG):c.2779C>T (p.Gln927Ter)
|
rs763988476
|
0.00001
|
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs)
|
rs775716153
|
0.00001
|
NM_002016.2(FLG):c.6014_6015del (p.His2005fs)
|
rs1314484669
|
0.00001
|
NM_004628.5(XPC):c.940C>T (p.Arg314Trp)
|
rs914274804
|
0.00001
|
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr)
|
rs1724405220
|
0.00001
|
NM_024589.3(ROGDI):c.117+1G>A
|
rs570952151
|
0.00001
|
NM_024589.3(ROGDI):c.795G>A (p.Leu265=)
|
rs749782882
|
0.00001
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
|
rs121908316
|
0.00001
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)
|
|
|
NM_000057.4(BLM):c.1088C>T (p.Ala363Val)
|
rs1567040460
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)
|
rs1555419980
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
NM_000057.4(BLM):c.397dup (p.Asp133fs)
|
rs2151147279
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.598A>G (p.Thr200Ala)
|
rs1895627174
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
|
|
|
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
|
|
|
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
|
|
|
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
|
|
|
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
|
|
|
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
|
|
|
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
|
|
|
NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)
|
|
|
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
|
|
|
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
|
|
|
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
|
|
|
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
|
|
|
NM_000081.4(LYST):c.1412C>T (p.Ala471Val)
|
|
|
NM_000081.4(LYST):c.1467del (p.Glu489fs)
|
rs80338644
|
|
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
|
|
|
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
|
|
|
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
|
|
|
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
|
|
|
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
|
|
|
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
|
|
|
NM_000081.4(LYST):c.1746A>G (p.Ile582Met)
|
|
|
NM_000081.4(LYST):c.1880A>C (p.Glu627Ala)
|
|
|
NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)
|
|
|
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
|
|
|
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
|
|
|
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
NM_000081.4(LYST):c.2437del (p.Arg813fs)
|
|
|
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
|
|
|
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
|
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
|
|
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
|
|
|
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
|
|
|
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
|
|
|
NM_000081.4(LYST):c.2642C>T (p.Ala881Val)
|
|
|
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
|
|
|
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
|
|
|
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
|
|
|
NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)
|
|
|
NM_000081.4(LYST):c.285T>C (p.Asp95=)
|
|
|
NM_000081.4(LYST):c.285T>G (p.Asp95Glu)
|
rs747965676
|
|
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
|
rs80338651
|
|
NM_000081.4(LYST):c.310A>G (p.Ile104Val)
|
|
|
NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)
|
|
|
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
|
|
|
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
|
|
|
NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)
|
|
|
NM_000081.4(LYST):c.345A>G (p.Gln115=)
|
|
|
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
|
|
|
NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)
|
|
|
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
|
|
|
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del)
|
rs770679237
|
|
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
|
|
|
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
|
|
|
NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)
|
|
|
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
|
|
|
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
|
|
|
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
|
|
|
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
|
|
|
NM_000081.4(LYST):c.4544-3T>C
|
|
|
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
|
|
|
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
|
|
|
NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)
|
|
|
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
|
|
|
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
|
|
|
NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)
|
|
|
NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)
|
|
|
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
|
|
|
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
|
|
|
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)
|
|
|
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
|
|
|
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
|
|
|
NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)
|
|
|
NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)
|
|
|
NM_000081.4(LYST):c.655A>G (p.Met219Val)
|
|
|
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
|
|
|
NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)
|
|
|
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
|
|
|
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
|
|
|
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
|
|
|
NM_000081.4(LYST):c.737T>C (p.Val246Ala)
|
|
|
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
|
|
|
NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)
|
|
|
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
|
|
|
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
|
|
|
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
|
|
|
NM_000081.4(LYST):c.8358+2T>C
|
|
|
NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)
|
|
|
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
|
|
|
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
|
|
|
NM_000081.4(LYST):c.9233G>A (p.Arg3078His)
|
|
|
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
|
|
|
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
|
|
|
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
|
|
|
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
|
|
|
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
|
|
|
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
|
|
|
NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)
|
|
|
NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)
|
|
|
NM_000081.4(LYST):c.9944G>A (p.Arg3315His)
|
|
|
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
|
|
|
NM_000140.5(FECH):c.286C>T (p.Arg96Ter)
|
rs984041251
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
|
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.1857+1G>A
|
rs2136102397
|
|
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
|
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)
|
rs57536312
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000353.3(TAT):c.805G>A (p.Asp269Asn)
|
|
|
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr)
|
rs1057517837
|
|
NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)
|
|
|
NM_000359.3(TGM1):c.1401dup (p.Gly468fs)
|
|
|
NM_000359.3(TGM1):c.365C>A (p.Ser122Ter)
|
|
|
NM_000359.3(TGM1):c.944G>A (p.Arg315His)
|
rs143473912
|
|
NM_000374.5(UROD):c.758dup (p.Ala254fs)
|
|
|
NM_000380.4(XPA):c.10del (p.Ala4fs)
|
rs779161471
|
|
NM_000380.4(XPA):c.349_353del (p.Leu117fs)
|
rs1200172747
|
|
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
|
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)
|
rs886041212
|
|
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)
|
|
|
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)
|
rs2137277484
|
|
NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
|
|
|
NM_001110.4(ADAM10):c.2026G>A (p.Ala676Thr)
|
|
|
NM_001110.4(ADAM10):c.846T>A (p.Asp282Glu)
|
|
|
NM_001126049.2(KLLN):c.184C>G (p.Arg62Gly)
|
|
|
NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)
|
|
|
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)
|
rs2018180805
|
|
NM_001320752.2(STS):c.437del (p.Pro146fs)
|
rs2147089236
|
|
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs)
|
rs1057517706
|
|
NM_001382347.1(MYO5A):c.1930C>T (p.His644Tyr)
|
|
|
NM_001382347.1(MYO5A):c.2527G>A (p.Val843Ile)
|
|
|
NM_001922.5(DCT):c.100A>C (p.Ser34Arg)
|
|
|
NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs)
|
rs746608568
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.3280C>A (p.Pro1094Thr)
|
|
|
NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter)
|
rs751147313
|
|
NM_002204.4(ITGA3):c.2995G>A (p.Val999Met)
|
|
|
NM_002281.4(KRT81):c.2T>G (p.Met1Arg)
|
|
|
NM_002332.3(LRP1):c.7896C>A (p.Asp2632Glu)
|
|
|
NM_002332.3(LRP1):c.8999A>G (p.His3000Arg)
|
|
|
NM_002461.3(MVD):c.1013+1G>T
|
rs780212718
|
|
NM_002510.3(GPNMB):c.319_332del (p.Lys107fs)
|
rs758729806
|
|
NM_002666.5(PLIN1):c.1280A>G (p.Glu427Gly)
|
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
|
|
|
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
|
|
|
NM_003664.5(AP3B1):c.280-2A>G
|
|
|
NM_004278.4(PIGL):c.494+1G>A
|
rs2142864883
|
|
NM_004425.4(ECM1):c.233del (p.Pro78fs)
|
rs768474010
|
|
NM_004628.5(XPC):c.1246C>T (p.Arg416Cys)
|
|
|
NM_004628.5(XPC):c.1872+1G>C
|
rs1559374923
|
|
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)
|
rs754775337
|
|
NM_004628.5(XPC):c.806C>G (p.Ala269Gly)
|
|
|
NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)
|
|
|
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)
|
|
|
NM_006218.4(PIK3CA):c.2667-20G>A
|
|
|
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)
|
|
|
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
|
|
|
NM_006846.4(SPINK5):c.209+1G>A
|
rs1752708600
|
|
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)
|
|
|
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)
|
|
|
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)
|
rs1207466199
|
|
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)
|
|
|
NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)
|
|
|
NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)
|
|
|
NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)
|
|
|
NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)
|
|
|
NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)
|
|
|
NM_014339.7(IL17RA):c.1324A>G (p.Lys442Glu)
|
|
|
NM_014339.7(IL17RA):c.1955C>G (p.Pro652Arg)
|
|
|
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)
|
|
|
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)
|
|
|
NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)
|
|
|
NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)
|
|
|
NM_017671.5(FERMT1):c.373del (p.Cys125fs)
|
rs869312723
|
|
NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys)
|
|
|
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter)
|
rs773766654
|
|
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)
|
rs2151838171
|
|
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter)
|
rs754701941
|
|
NM_021628.3(ALOXE3):c.352+1G>T
|
|
|
NM_021978.4(ST14):c.241+1G>A
|
rs2136211819
|
|
NM_022081.6(HPS4):c.1152del (p.Gly385fs)
|
rs2146555632
|
|
NM_022662.4(ANAPC1):c.1452A>T (p.Lys484Asn)
|
|
|
NM_022662.4(ANAPC1):c.236G>A (p.Gly79Glu)
|
|
|
NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)
|
|
|
NM_024101.7(MLPH):c.332+1G>T
|
rs2106291953
|
|
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter)
|
rs1555491350
|
|
NM_024589.3(ROGDI):c.531+5G>T
|
|
|
NM_024666.5(AAGAB):c.61C>T (p.Gln21Ter)
|
rs1567037561
|
|
NM_024666.5(AAGAB):c.778G>T (p.Glu260Ter)
|
|
|
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
|
|
|
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter)
|
rs1590263662
|
|
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
|
|
|
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp)
|
rs766916912
|
|
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)
|
rs730880517
|
|
NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)
|
|
|
NM_031307.4(PUS3):c.17_18del (p.Thr6fs)
|
rs1208593429
|
|
NM_031307.4(PUS3):c.476G>A (p.Arg159His)
|
|
|
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs)
|
rs1309602954
|
|
NM_032383.5(HPS3):c.1509+1G>A
|
rs746906314
|
|
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)
|
rs1723609962
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
|
|
|
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs)
|
rs763305108
|
|
NM_032782.5(HAVCR2):c.523-1G>A
|
|
|
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)
|
rs2131030007
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
|
|
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)
|
rs781242821
|
|
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
|
|
|
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)
|
rs1485186943
|
|
NM_033305.3(VPS13A):c.7027-1G>A
|
|
|
NM_033305.3(VPS13A):c.7419+1G>A
|
rs763654348
|
|
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
|
|
|
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
|
|
|
NM_033305.3(VPS13A):c.8744-2A>G
|
|
|
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
|
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_052872.4(IL17F):c.298G>T (p.Ala100Ser)
|
|
|
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
|
|
|
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)
|
rs1299632365
|
|
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
|
|
|
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
|
|
|
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
|
|
|
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
|
|
|
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)
|
rs886041401
|
|
NM_058172.6(ANTXR2):c.297-1G>A
|
|
|
NM_058172.6(ANTXR2):c.297-2del
|
rs2110109074
|
|
NM_138701.4(MPLKIP):c.229del (p.Arg77fs)
|
rs2150561563
|
|
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
|
|
|
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)
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NM_181507.2(HPS5):c.1423del (p.Leu475fs)
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rs766602179
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NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
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NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
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rs1896186645
|
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NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
|
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NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
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NM_201631.4(TGM5):c.1518A>T (p.Gln506His)
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NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)
|
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NM_201631.4(TGM5):c.393C>A (p.Tyr131Ter)
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rs755448082
|
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NM_201631.4(TGM5):c.829C>T (p.Gln277Ter)
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rs1045182796
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