NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)
|
rs80299691
|
0.00426
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)
|
rs72866991
|
0.00243
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
|
rs139539448
|
0.00217
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_001457.4(FLNB):c.420G>A (p.Thr140=)
|
rs192491895
|
0.00134
|
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln)
|
rs13321615
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)
|
rs199821354
|
0.00124
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)
|
rs114725374
|
0.00107
|
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)
|
rs34761938
|
0.00103
|
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)
|
rs141626835
|
0.00103
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
NM_005529.7(HSPG2):c.745G>A (p.Val249Met)
|
rs148066529
|
0.00101
|
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln)
|
rs150747960
|
0.00098
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr)
|
rs145427892
|
0.00096
|
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)
|
rs35058636
|
0.00096
|
NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe)
|
rs145382776
|
0.00091
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)
|
rs112382430
|
0.00086
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_001844.5(COL2A1):c.969+6T>C
|
rs139163410
|
0.00081
|
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)
|
rs56252746
|
0.00080
|
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu)
|
rs150314450
|
0.00079
|
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser)
|
rs137904249
|
0.00079
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_000047.3(ARSL):c.23+5G>C
|
rs200062390
|
0.00068
|
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val)
|
rs61751710
|
0.00068
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_025132.4(WDR19):c.1030C>G (p.His344Asp)
|
rs76599296
|
0.00063
|
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His)
|
rs147458427
|
0.00062
|
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg)
|
rs148414587
|
0.00061
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=)
|
rs149710901
|
0.00051
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr)
|
rs142114129
|
0.00047
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)
|
rs145091234
|
0.00043
|
NM_002296.4(LBR):c.312C>T (p.Ala104=)
|
rs146953852
|
0.00041
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00039
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)
|
rs200506675
|
0.00036
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
NM_015922.3(NSDHL):c.649G>A (p.Glu217Lys)
|
rs138492835
|
0.00034
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001013693.3(LDLRAD2):c.*1278C>T
|
rs376645617
|
0.00031
|
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)
|
rs754643779
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_001127671.2(LIFR):c.46G>A (p.Asp16Asn)
|
rs61751713
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)
|
rs139051143
|
0.00026
|
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)
|
rs140127543
|
0.00026
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)
|
rs113605039
|
0.00024
|
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg)
|
rs370471445
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val)
|
rs140416653
|
0.00023
|
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met)
|
rs2276742
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)
|
rs200993986
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=)
|
rs140509598
|
0.00021
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)
|
rs201966792
|
0.00019
|
NM_002296.4(LBR):c.561C>T (p.Tyr187=)
|
rs151100686
|
0.00019
|
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)
|
rs143706338
|
0.00019
|
NM_002381.5(MATN3):c.671G>A (p.Arg224Gln)
|
rs201491595
|
0.00018
|
NM_000095.3(COMP):c.382G>A (p.Val128Ile)
|
rs143954978
|
0.00016
|
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
NM_002296.4(LBR):c.1315-8C>T
|
rs369094974
|
0.00015
|
NM_001457.4(FLNB):c.864C>T (p.Asp288=)
|
rs141151998
|
0.00014
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
NM_002381.5(MATN3):c.513C>T (p.Asp171=)
|
rs571353547
|
0.00014
|
NM_020800.3(IFT80):c.807T>C (p.Thr269=)
|
rs372419950
|
0.00014
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_001127671.2(LIFR):c.2671-10T>G
|
rs201596849
|
0.00013
|
NM_001852.4(COL9A2):c.1761C>T (p.Ala587=)
|
rs370130857
|
0.00013
|
NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu)
|
rs34458186
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)
|
rs756500246
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu)
|
rs201254275
|
0.00011
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)
|
rs148225182
|
0.00011
|
NM_025132.4(WDR19):c.1249+9A>G
|
rs201377206
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His)
|
rs150314895
|
0.00009
|
NM_001457.4(FLNB):c.7794T>C (p.His2598=)
|
rs140318342
|
0.00009
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_001189.4(NKX3-2):c.179C>T (p.Ala60Val)
|
rs536700699
|
0.00008
|
NM_002296.4(LBR):c.991C>T (p.Leu331Phe)
|
rs201609720
|
0.00008
|
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=)
|
rs144317897
|
0.00008
|
NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=)
|
rs371519713
|
0.00008
|
NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr)
|
rs773860532
|
0.00008
|
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)
|
rs772687020
|
0.00008
|
NM_053025.4(MYLK):c.5369-10T>G
|
rs373584324
|
0.00008
|
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)
|
rs200635355
|
0.00008
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
NM_000095.3(COMP):c.11A>C (p.Asp4Ala)
|
rs370458957
|
0.00007
|
NM_000142.5(FGFR3):c.1068G>A (p.Val356=)
|
rs201947443
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala)
|
rs201480339
|
0.00007
|
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu)
|
rs201772619
|
0.00007
|
NM_001854.4(COL11A1):c.*9C>G
|
rs371551881
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn)
|
rs371325633
|
0.00007
|
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)
|
rs747029402
|
0.00007
|
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
0.00006
|
NM_000346.4(SOX9):c.1092G>A (p.Ala364=)
|
rs754417848
|
0.00006
|
NM_001127671.2(LIFR):c.465A>G (p.Leu155=)
|
rs368371692
|
0.00006
|
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu)
|
rs542593908
|
0.00006
|
NM_001128225.3(SLC39A13):c.786+8C>T
|
rs572017658
|
0.00006
|
NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg)
|
rs756642619
|
0.00006
|
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val)
|
rs377203539
|
0.00006
|
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
|
rs199726428
|
0.00006
|
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=)
|
rs529005717
|
0.00006
|
NM_001999.4(FBN2):c.2115C>G (p.Thr705=)
|
rs763844538
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=)
|
rs375006314
|
0.00006
|
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser)
|
rs555281580
|
0.00006
|
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser)
|
rs139000120
|
0.00006
|
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe)
|
rs1007504430
|
0.00006
|
NM_053025.4(MYLK):c.774-15C>G
|
rs371552521
|
0.00006
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)
|
rs750472969
|
0.00005
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
NM_002296.4(LBR):c.1324T>C (p.Leu442=)
|
rs61749338
|
0.00005
|
NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg)
|
rs554059442
|
0.00005
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_006579.3(EBP):c.59A>C (p.Asn20Thr)
|
rs144359050
|
0.00005
|
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
|
rs368359145
|
0.00004
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000316.3(PTH1R):c.1353+8G>T
|
rs201749357
|
0.00004
|
NM_000478.6(ALPL):c.1070G>A (p.Arg357Gln)
|
rs202022405
|
0.00004
|
NM_001127671.2(LIFR):c.2462C>G (p.Pro821Arg)
|
rs139248720
|
0.00004
|
NM_001199397.3(NEK1):c.2977C>G (p.Pro993Ala)
|
rs745888585
|
0.00004
|
NM_001353214.3(DYM):c.543T>G (p.Val181=)
|
rs759683937
|
0.00004
|
NM_001852.4(COL9A2):c.1068G>A (p.Pro356=)
|
rs752181922
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)
|
rs549820613
|
0.00004
|
NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg)
|
rs751740362
|
0.00004
|
NM_004836.7(EIF2AK3):c.1651-4T>C
|
rs750573955
|
0.00004
|
NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=)
|
rs759194108
|
0.00004
|
NM_005529.7(HSPG2):c.4868+4G>A
|
rs200689461
|
0.00004
|
NM_006182.4(DDR2):c.418G>T (p.Val140Leu)
|
rs756623313
|
0.00004
|
NM_017617.5(NOTCH1):c.865+10C>T
|
rs760702631
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val)
|
rs777733112
|
0.00004
|
NM_052989.3(IFT122):c.2988-6C>T
|
rs749670705
|
0.00004
|
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)
|
rs557159295
|
0.00004
|
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln)
|
rs767877538
|
0.00004
|
NM_000047.3(ARSL):c.280C>T (p.Leu94Phe)
|
rs141210068
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000142.5(FGFR3):c.2265G>A (p.Thr755=)
|
rs755791719
|
0.00003
|
NM_001127671.2(LIFR):c.2010C>T (p.Cys670=)
|
rs755322616
|
0.00003
|
NM_001127671.2(LIFR):c.3078G>A (p.Ala1026=)
|
rs760083976
|
0.00003
|
NM_001127671.2(LIFR):c.3086G>A (p.Arg1029Lys)
|
rs1012911330
|
0.00003
|
NM_001199397.3(NEK1):c.426A>G (p.Val142=)
|
rs200769726
|
0.00003
|
NM_001367624.2(ZNF469):c.4224G>A (p.Pro1408=)
|
rs940044560
|
0.00003
|
NM_001457.4(FLNB):c.1953C>T (p.Tyr651=)
|
rs754981255
|
0.00003
|
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr)
|
rs371445823
|
0.00003
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)
|
rs763795192
|
0.00003
|
NM_004239.4(TRIP11):c.975A>G (p.Ala325=)
|
rs143126491
|
0.00003
|
NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys)
|
rs751653012
|
0.00003
|
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys)
|
rs752260236
|
0.00003
|
NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser)
|
rs778350928
|
0.00003
|
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys)
|
rs1271941628
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_052989.3(IFT122):c.732C>T (p.Asp244=)
|
rs202074599
|
0.00003
|
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp)
|
rs778733293
|
0.00002
|
NM_000095.3(COMP):c.217+4A>G
|
rs779140776
|
0.00002
|
NM_000138.5(FBN1):c.1220G>A (p.Gly407Asp)
|
rs758241018
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000142.5(FGFR3):c.1645+8C>T
|
rs372987620
|
0.00002
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
0.00002
|
NM_001127671.2(LIFR):c.2695G>A (p.Glu899Lys)
|
rs915137068
|
0.00002
|
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp)
|
rs750069673
|
0.00002
|
NM_001199397.3(NEK1):c.2020G>C (p.Gly674Arg)
|
rs773244347
|
0.00002
|
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu)
|
rs762991925
|
0.00002
|
NM_001852.4(COL9A2):c.1782G>A (p.Thr594=)
|
rs745727857
|
0.00002
|
NM_001854.4(COL11A1):c.1350+11G>A
|
rs747505977
|
0.00002
|
NM_001854.4(COL11A1):c.4300A>G (p.Met1434Val)
|
rs772950506
|
0.00002
|
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser)
|
rs377036654
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.2178C>T (p.Ser726=)
|
rs573282381
|
0.00002
|
NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser)
|
rs147485470
|
0.00002
|
NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg)
|
rs759108605
|
0.00002
|
NM_005529.7(HSPG2):c.2226C>T (p.Cys742=)
|
rs900156643
|
0.00002
|
NM_005529.7(HSPG2):c.3414+5G>A
|
rs764695599
|
0.00002
|
NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp)
|
rs755167311
|
0.00002
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs372583866
|
0.00002
|
NM_024753.5(TTC21B):c.3856A>G (p.Ile1286Val)
|
rs768117655
|
0.00002
|
NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=)
|
rs759890035
|
0.00002
|
NM_080680.3(COL11A2):c.4751-9A>G
|
rs555680585
|
0.00002
|
NM_000047.3(ARSL):c.1419A>G (p.Thr473=)
|
rs755373707
|
0.00001
|
NM_000047.3(ARSL):c.1629G>A (p.Gln543=)
|
rs753971115
|
0.00001
|
NM_000089.4(COL1A2):c.1198-12A>G
|
rs1292046736
|
0.00001
|
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys)
|
rs754825427
|
0.00001
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000095.3(COMP):c.1331C>G (p.Ser444Cys)
|
rs747106682
|
0.00001
|
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val)
|
rs1215069127
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
0.00001
|
NM_000142.5(FGFR3):c.1075+8C>T
|
rs779181976
|
0.00001
|
NM_000142.5(FGFR3):c.1524G>A (p.Lys508=)
|
rs756833829
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_000316.3(PTH1R):c.595C>T (p.Leu199=)
|
rs1336354545
|
0.00001
|
NM_000346.4(SOX9):c.916G>T (p.Val306Leu)
|
rs779386878
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser)
|
rs1244308550
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys)
|
rs1557177091
|
0.00001
|
NM_001127671.2(LIFR):c.1984T>C (p.Cys662Arg)
|
rs1358104388
|
0.00001
|
NM_001199397.3(NEK1):c.1335T>C (p.His445=)
|
rs776957816
|
0.00001
|
NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys)
|
rs747825411
|
0.00001
|
NM_001457.4(FLNB):c.282C>T (p.Leu94=)
|
rs745493076
|
0.00001
|
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val)
|
rs570950728
|
0.00001
|
NM_001457.4(FLNB):c.4736C>T (p.Thr1579Ile)
|
rs2097315257
|
0.00001
|
NM_001457.4(FLNB):c.5784C>T (p.Leu1928=)
|
rs866717445
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=)
|
rs762603514
|
0.00001
|
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His)
|
rs535980544
|
0.00001
|
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.3598-5T>C
|
rs1441411760
|
0.00001
|
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg)
|
rs200194450
|
0.00001
|
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)
|
rs767229176
|
0.00001
|
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)
|
rs762727530
|
0.00001
|
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu)
|
rs1308067070
|
0.00001
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
NM_001854.4(COL11A1):c.2990G>A (p.Gly997Asp)
|
rs772357889
|
0.00001
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
NM_001999.4(FBN2):c.2149C>T (p.Arg717Cys)
|
rs766945762
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)
|
rs187786356
|
0.00001
|
NM_001999.4(FBN2):c.513T>G (p.Ile171Met)
|
rs1756603412
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)
|
rs377110126
|
0.00001
|
NM_002296.4(LBR):c.908T>A (p.Ile303Asn)
|
rs1165682529
|
0.00001
|
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)
|
rs1365841164
|
0.00001
|
NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn)
|
rs766465446
|
0.00001
|
NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=)
|
rs761632172
|
0.00001
|
NM_005529.7(HSPG2):c.1355+5G>A
|
rs781394836
|
0.00001
|
NM_005529.7(HSPG2):c.1534C>T (p.Leu512=)
|
rs758125762
|
0.00001
|
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His)
|
rs561392976
|
0.00001
|
NM_005529.7(HSPG2):c.6706G>A (p.Glu2236Lys)
|
rs762159760
|
0.00001
|
NM_005529.7(HSPG2):c.6802G>A (p.Val2268Met)
|
rs1459395398
|
0.00001
|
NM_005529.7(HSPG2):c.8317-7T>C
|
rs773039564
|
0.00001
|
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe)
|
rs1368918637
|
0.00001
|
NM_006579.3(EBP):c.483G>A (p.Gly161=)
|
rs782627994
|
0.00001
|
NM_015139.3(SLC35D1):c.392+7A>G
|
rs778524919
|
0.00001
|
NM_015139.3(SLC35D1):c.930G>A (p.Thr310=)
|
rs1314283727
|
0.00001
|
NM_015922.3(NSDHL):c.979A>G (p.Met327Val)
|
rs1485303029
|
0.00001
|
NM_020779.4(WDR35):c.2593G>A (p.Val865Met)
|
rs1032877870
|
0.00001
|
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)
|
rs184680258
|
0.00001
|
NM_021625.5(TRPV4):c.105C>T (p.Ser35=)
|
rs1167497327
|
0.00001
|
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)
|
rs751939888
|
0.00001
|
NM_021625.5(TRPV4):c.300G>A (p.Lys100=)
|
rs370135765
|
0.00001
|
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)
|
rs376746146
|
0.00001
|
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser)
|
rs1366178129
|
0.00001
|
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)
|
rs764512369
|
0.00001
|
NM_052989.3(IFT122):c.616A>G (p.Ile206Val)
|
rs777023612
|
0.00001
|
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu)
|
rs774553050
|
0.00001
|
NM_053025.4(MYLK):c.4620-5C>T
|
rs760680632
|
0.00001
|
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp)
|
rs1554221958
|
0.00001
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr)
|
rs1555573895
|
|
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys)
|
rs1171968124
|
|
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys)
|
rs904057644
|
|
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys)
|
rs1555571800
|
|
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr)
|
rs1554398544
|
|
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg)
|
rs1554398713
|
|
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile)
|
rs886062514
|
|
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val)
|
rs1554395967
|
|
NM_000090.4(COL3A1):c.1194+5G>C
|
rs1688245023
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1924-8C>A
|
rs1553508534
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=)
|
rs1554801686
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4954+6G>C
|
rs1031138847
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000095.3(COMP):c.1521C>A (p.Asp507Glu)
|
rs2145900494
|
|
NM_000095.3(COMP):c.1581G>A (p.Thr527=)
|
rs1190598083
|
|
NM_000112.4(SLC26A2):c.1442G>C (p.Ser481Thr)
|
rs1755089465
|
|
NM_000112.4(SLC26A2):c.1443T>C (p.Ser481=)
|
rs1054014161
|
|
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)
|
rs1755026324
|
|
NM_000138.5(FBN1):c.1700G>A (p.Gly567Glu)
|
rs768489747
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg)
|
rs1555405654
|
|
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=)
|
rs771495510
|
|
NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile)
|
rs2108797719
|
|
NM_000142.5(FGFR3):c.811G>A (p.Val271Met)
|
rs1445397378
|
|
NM_000288.4(PEX7):c.236A>G (p.Asn79Ser)
|
rs2115131862
|
|
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)
|
rs1683106396
|
|
NM_000316.3(PTH1R):c.830G>T (p.Gly277Val)
|
rs757961321
|
|
NM_000316.3(PTH1R):c.834+14_834+46del
|
rs768888196
|
|
NM_000346.4(SOX9):c.1095_1115del (p.364AAPPQQP[1])
|
rs765759003
|
|
NM_000346.4(SOX9):c.320G>A (p.Arg107Gln)
|
rs2143239870
|
|
NM_000346.4(SOX9):c.432-3C>A
|
rs1033320617
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
NM_000451.4(SHOX):c.-55C>T
|
rs772910213
|
|
NM_001011658.4(TRAPPC2):c.-161-2A>C
|
rs2146894247
|
|
NM_001102564.3(IFT43):c.143G>A (p.Gly48Glu)
|
rs780644030
|
|
NM_001110556.2(FLNA):c.1066-15C>A
|
rs1557179297
|
|
NM_001127671.2(LIFR):c.1265C>T (p.Thr422Ile)
|
rs2112471039
|
|
NM_001127671.2(LIFR):c.148C>T (p.Pro50Ser)
|
rs1475409463
|
|
NM_001127671.2(LIFR):c.1547T>C (p.Phe516Ser)
|
rs766255111
|
|
NM_001127671.2(LIFR):c.1960A>G (p.Thr654Ala)
|
rs2112417469
|
|
NM_001127671.2(LIFR):c.47A>G (p.Asp16Gly)
|
rs2112571297
|
|
NM_001128225.3(SLC39A13):c.786+7G>C
|
rs375548129
|
|
NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser)
|
rs772588647
|
|
NM_001199397.3(NEK1):c.118-10C>T
|
rs1330006018
|
|
NM_001199397.3(NEK1):c.1628A>G (p.Glu543Gly)
|
rs2149814328
|
|
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)
|
rs745526568
|
|
NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn)
|
rs780336634
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
NM_001457.4(FLNB):c.3008C>T (p.Thr1003Met)
|
rs1178934749
|
|
NM_001457.4(FLNB):c.4620T>C (p.Phe1540=)
|
rs2107220411
|
|
NM_001457.4(FLNB):c.5379C>T (p.Val1793=)
|
rs2097330797
|
|
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser)
|
rs1179925303
|
|
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro)
|
rs533540496
|
|
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=)
|
rs769500366
|
|
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala)
|
rs121912887
|
|
NM_001851.6(COL9A1):c.1143+4A>T
|
rs1224302280
|
|
NM_001852.4(COL9A2):c.1691_1692insA (p.Gly565fs)
|
rs1643933460
|
|
NM_001852.4(COL9A2):c.1696T>C (p.Tyr566His)
|
rs1643933432
|
|
NM_001852.4(COL9A2):c.1701A>T (p.Pro567=)
|
rs1643933277
|
|
NM_001853.4(COL9A3):c.275G>C (p.Gly92Ala)
|
rs1991064282
|
|
NM_001853.4(COL9A3):c.337G>C (p.Gly113Arg)
|
rs574865366
|
|
NM_001853.4(COL9A3):c.422C>G (p.Pro141Arg)
|
rs141879928
|
|
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly)
|
rs771139447
|
|
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu)
|
rs1252968708
|
|
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg)
|
rs141978499
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
NM_001999.4(FBN2):c.3163G>A (p.Gly1055Arg)
|
rs1372203787
|
|
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)
|
rs2126903780
|
|
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg)
|
rs1554123060
|
|
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr)
|
rs863223572
|
|
NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr)
|
rs2126854530
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser)
|
rs372250618
|
|
NM_002296.4(LBR):c.218C>G (p.Ser73Cys)
|
rs773644529
|
|
NM_002296.4(LBR):c.629G>T (p.Gly210Val)
|
rs565288775
|
|
NM_002381.5(MATN3):c.526G>T (p.Val176Leu)
|
rs200762092
|
|
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)
|
rs2103483989
|
|
NM_002381.5(MATN3):c.962G>C (p.Cys321Ser)
|
rs753326503
|
|
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg)
|
rs1555551464
|
|
NM_002546.4(TNFRSF11B):c.605G>A (p.Cys202Tyr)
|
rs2129882318
|
|
NM_003480.4(MFAP5):c.81T>G (p.Asn27Lys)
|
rs1555140533
|
|
NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn)
|
rs2140097408
|
|
NM_004836.7(EIF2AK3):c.1887-9C>G
|
rs2104414509
|
|
NM_005430.4(WNT1):c.726G>A (p.Val242=)
|
rs1324762785
|
|
NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala)
|
rs1316660217
|
|
NM_005529.7(HSPG2):c.12532+4C>T
|
rs762689360
|
|
NM_005529.7(HSPG2):c.1371C>T (p.Ser457=)
|
rs770532300
|
|
NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=)
|
rs2152711496
|
|
NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=)
|
rs765768172
|
|
NM_006182.4(DDR2):c.2454C>G (p.Ala818=)
|
rs1236758438
|
|
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser)
|
rs1554833919
|
|
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr)
|
rs771121101
|
|
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met)
|
rs1554727492
|
|
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
|
rs1268405497
|
|
NM_020779.4(WDR35):c.1255+5G>A
|
rs1034087679
|
|
NM_020779.4(WDR35):c.1833C>G (p.Asn611Lys)
|
rs1671026684
|
|
NM_020779.4(WDR35):c.2409A>G (p.Gln803=)
|
rs140630290
|
|
NM_020779.4(WDR35):c.658G>A (p.Val220Met)
|
rs746602378
|
|
NM_020800.3(IFT80):c.546G>A (p.Leu182=)
|
rs543233802
|
|
NM_020800.3(IFT80):c.550-4A>T
|
rs769891425
|
|
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr)
|
rs2108360263
|
|
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)
|
rs1393630996
|
|
NM_021625.5(TRPV4):c.2421T>G (p.Tyr807Ter)
|
rs2136417346
|
|
NM_024753.5(TTC21B):c.2431G>T (p.Val811Phe)
|
rs2105318208
|
|
NM_025132.4(WDR19):c.1354T>C (p.Leu452=)
|
rs2109329940
|
|
NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu)
|
rs2109440327
|
|
NM_025132.4(WDR19):c.685C>G (p.Gln229Glu)
|
rs1727822959
|
|
NM_052989.3(IFT122):c.2596A>G (p.Met866Val)
|
rs2081968039
|
|
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del)
|
rs746556063
|
|
NM_052989.3(IFT122):c.3051C>T (p.His1017=)
|
rs538635135
|
|
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg)
|
rs769527595
|
|
NM_053025.4(MYLK):c.2838C>G (p.His946Gln)
|
rs1200981327
|
|
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr)
|
rs756451726
|
|
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys)
|
rs1406608470
|
|
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser)
|
rs2150579159
|
|
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met)
|
rs745859259
|
|
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)
|
rs142890313
|
|