NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr)
|
rs121434358
|
0.00021
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)
|
rs1002670900
|
0.00006
|
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter)
|
rs1257804746
|
0.00004
|
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)
|
rs387907192
|
0.00004
|
NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)
|
rs761886575
|
0.00003
|
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
|
rs373111085
|
0.00003
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
0.00003
|
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)
|
rs149170494
|
0.00003
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)
|
rs113994123
|
0.00002
|
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)
|
rs1206753537
|
0.00002
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
NM_139057.4(ADAMTS17):c.1721+1G>A
|
rs749116256
|
0.00002
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)
|
rs387907064
|
0.00001
|
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)
|
rs1555491448
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter)
|
rs1424099914
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)
|
rs1417500285
|
0.00001
|
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
0.00001
|
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)
|
rs762817061
|
0.00001
|
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)
|
rs1403669200
|
0.00001
|
NM_014714.4(IFT140):c.634+5G>A
|
rs1323647622
|
0.00001
|
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)
|
rs1330112951
|
0.00001
|
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)
|
rs762515973
|
0.00001
|
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg)
|
rs751670999
|
0.00001
|
NM_030957.4(ADAMTS10):c.810+1G>A
|
rs387906266
|
0.00001
|
GNAS, GLN170ALA
|
|
|
GNAS, IVS3AS, A-G, -12
|
|
|
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
|
|
|
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
|
|
|
GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788)
|
|
|
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3
|
|
|
GRCh37/hg19 8q23.3-24.11(chr8:115662767-117718250)
|
|
|
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
|
|
|
NC_000008.10:g.(?_116426231)_(116635884_?)del
|
|
|
NC_000008.10:g.(?_116599208)_(116635864_?)del
|
|
|
NC_000008.10:g.(?_116599208)_(116635864_?)dup
|
|
|
NC_000008.10:g.(?_116616080)_(116635884_?)dup
|
|
|
NC_000008.10:g.(?_116635808)_(116635864_?)del
|
|
|
NC_000008.11:g.(?_115586981)_(115587624_?)del
|
|
|
NC_000016.10:g.1602592del
|
rs2035852852
|
|
NC_000016.9:g.(?_1568197)_(1570829_?)dup
|
|
|
NC_000016.9:g.(?_1574533)_(1576817_?)del
|
|
|
NC_000016.9:g.(?_1607916)_(1608155_?)del
|
|
|
NC_000016.9:g.(?_1618198)_(1618355_?)del
|
|
|
NC_000016.9:g.(?_1621388)_(1621555_?)del
|
|
|
NC_000016.9:g.(?_1633295)_(1637325_?)del
|
|
|
NC_000016.9:g.(?_256302)_(1657267_?)del
|
|
|
NC_000016.9:g.68345747_68361056del
|
|
|
NG_012383.3:g.(70130_86397)_(87002_255549)del
|
|
|
NG_012383.3:g.(70130_86397)_(87002_255549)dup
|
|
|
NG_012383.3:g.(87002_255549)_(259980_?)del
|
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)
|
rs1566911957
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
|
|
|
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)
|
rs1597631624
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)
|
rs397515794
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)
|
rs2141279835
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp)
|
rs2043337073
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del)
|
rs1555396783
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)
|
rs387906622
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp)
|
rs1064797059
|
|
NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr)
|
rs387906624
|
|
NM_000138.5(FBN1):c.5202_5204dup (p.Gln1735dup)
|
rs587776863
|
|
NM_000138.5(FBN1):c.5243G>T (p.Cys1748Phe)
|
rs1566902569
|
|
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg)
|
rs1131692052
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
NM_000138.5(FBN1):c.5836del (p.Gln1946fs)
|
rs2141249251
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7249del (p.Glu2417fs)
|
rs2141226991
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)
|
rs2141211556
|
|
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met)
|
rs137854856
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln)
|
rs2146300461
|
|
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr)
|
rs2146304864
|
|
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg)
|
rs2146305127
|
|
NM_000516.7(GNAS):c.1067G>A (p.Arg356His)
|
rs2146305299
|
|
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr)
|
rs2146305803
|
|
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs)
|
rs2091380655
|
|
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr)
|
rs2146305978
|
|
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
|
|
|
NM_000516.7(GNAS):c.112del (p.Arg38fs)
|
rs2145916486
|
|
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu)
|
rs2146306658
|
|
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg)
|
rs397514457
|
|
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter)
|
rs1254063262
|
|
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)
|
rs397514456
|
|
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter)
|
rs397514456
|
|
NM_000516.7(GNAS):c.119_139+17del
|
rs2145916749
|
|
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser)
|
rs2145916888
|
|
NM_000516.7(GNAS):c.127C>G (p.Leu43Val)
|
rs2145916985
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.254dup (p.Asp85fs)
|
rs2146079806
|
|
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter)
|
rs1601115202
|
|
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter)
|
rs1601115231
|
|
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro)
|
rs137854531
|
|
NM_000516.7(GNAS):c.302_303del (p.Glu101fs)
|
rs2146178462
|
|
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)
|
rs137854539
|
|
NM_000516.7(GNAS):c.348del (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.3G>T (p.Met1Ile)
|
rs2145914268
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)
|
|
|
NM_000516.7(GNAS):c.460_461del (p.Trp154fs)
|
|
|
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter)
|
rs372290095
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter)
|
rs774895847
|
|
NM_000516.7(GNAS):c.530+1G>T
|
rs113029858
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys)
|
rs2146270332
|
|
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro)
|
rs1267396058
|
|
NM_000516.7(GNAS):c.602dup (p.Val202fs)
|
rs2146270735
|
|
NM_000516.7(GNAS):c.617_618del (p.Gly206fs)
|
rs2146271310
|
|
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)
|
rs2146278555
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.692G>A (p.Arg231His)
|
rs137854538
|
|
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys)
|
rs2091303526
|
|
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG
|
rs2146283488
|
|
NM_000516.7(GNAS):c.725del (p.Thr242fs)
|
rs1601163749
|
|
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg)
|
rs137854534
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala)
|
rs137854536
|
|
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu)
|
rs1555891584
|
|
NM_000516.7(GNAS):c.794G>A (p.Arg265His)
|
rs2146285582
|
|
NM_000516.7(GNAS):c.839+1G>C
|
rs1601164378
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
|
|
|
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu)
|
rs2146292463
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)
|
rs1554033934
|
|
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)
|
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001130144.3(LTBP3):c.1846+5G>A
|
rs1188540819
|
|
NM_001130144.3(LTBP3):c.2017G>T (p.Gly673Cys)
|
rs2135141843
|
|
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys)
|
rs1554974135
|
|
NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys)
|
rs1554971742
|
|
NM_002181.4(IHH):c.137C>T (p.Pro46Leu)
|
rs121917856
|
|
NM_002181.4(IHH):c.478C>T (p.Arg160Cys)
|
rs1948842030
|
|
NM_002181.4(IHH):c.569T>C (p.Val190Ala)
|
rs121917857
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)
|
rs886041228
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1308+2T>C
|
rs1555686624
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
|
|
|
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs)
|
rs1563638577
|
|
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)
|
rs121908430
|
|
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)
|
rs1554596393
|
|
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs)
|
rs1817997640
|
|
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)
|
rs1554596328
|
|
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter)
|
rs1368938675
|
|
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)
|
|
|
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)
|
|
|
NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter)
|
rs2130493114
|
|
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)
|
rs2130493086
|
|
NM_014112.5(TRPS1):c.1402del (p.Tyr468fs)
|
rs2130493020
|
|
NM_014112.5(TRPS1):c.1408_1409del (p.Lys470fs)
|
|
|
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs)
|
rs1817988877
|
|
NM_014112.5(TRPS1):c.1488del (p.Asn497fs)
|
|
|
NM_014112.5(TRPS1):c.1505del (p.Ser502fs)
|
rs2130492512
|
|
NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)
|
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs)
|
rs2130491759
|
|
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs)
|
rs1554596063
|
|
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter)
|
rs755557039
|
|
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter)
|
rs864621974
|
|
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs)
|
rs1563637033
|
|
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter)
|
rs2130491235
|
|
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
|
rs121908431
|
|
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)
|
|
|
NM_014112.5(TRPS1):c.1911del (p.Asp638fs)
|
rs2130490634
|
|
NM_014112.5(TRPS1):c.1942del (p.Ser648fs)
|
|
|
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
|
|
|
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)
|
rs368166434
|
|
NM_014112.5(TRPS1):c.2090dup (p.His697fs)
|
rs2130489877
|
|
NM_014112.5(TRPS1):c.2110del (p.Cys704fs)
|
rs1586431903
|
|
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter)
|
rs2130445981
|
|
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter)
|
rs2130445833
|
|
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)
|
rs2130445786
|
|
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs)
|
rs1554593085
|
|
NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer)
|
rs2130445285
|
|
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs)
|
rs1586431452
|
|
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)
|
|
|
NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)
|
|
|
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs)
|
rs2130444636
|
|
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter)
|
rs2130444603
|
|
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs)
|
rs2130444402
|
|
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)
|
|
|
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)
|
|
|
NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs)
|
rs2130444163
|
|
NM_014112.5(TRPS1):c.2532del (p.Asn845fs)
|
|
|
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)
|
rs121908432
|
|
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter)
|
rs1563623987
|
|
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)
|
rs1156330285
|
|
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter)
|
rs142472404
|
|
NM_014112.5(TRPS1):c.2666del (p.Asn889fs)
|
rs1586430715
|
|
NM_014112.5(TRPS1):c.2700+1G>A
|
rs1586430684
|
|
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs)
|
rs1554617582
|
|
NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)
|
|
|
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro)
|
rs121908433
|
|
NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs)
|
rs2129768973
|
|
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)
|
rs751565386
|
|
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)
|
rs121908435
|
|
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)
|
rs2129768696
|
|
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)
|
rs1057518972
|
|
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
|
rs121908436
|
|
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)
|
|
|
NM_014112.5(TRPS1):c.2829del (p.Arg944fs)
|
rs2129752164
|
|
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)
|
|
|
NM_014112.5(TRPS1):c.2880del (p.Arg961fs)
|
rs1586250578
|
|
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs)
|
rs1563714392
|
|
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)
|
rs28939069
|
|
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)
|
rs28939070
|
|
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs)
|
rs2129751330
|
|
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)
|
|
|
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs)
|
rs1812880824
|
|
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs)
|
rs1554617011
|
|
NM_014112.5(TRPS1):c.3010dup (p.Ser1004fs)
|
|
|
NM_014112.5(TRPS1):c.3160del (p.Ser1054fs)
|
|
|
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)
|
|
|
NM_014112.5(TRPS1):c.3248del (p.Lys1083fs)
|
rs2129749121
|
|
NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs)
|
rs2129748972
|
|
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)
|
rs121908434
|
|
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs)
|
rs2129748003
|
|
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter)
|
rs1812863711
|
|
NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
|
|
|
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
|
|
|
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)
|
rs1586249260
|
|
NM_014112.5(TRPS1):c.390del (p.Ala131fs)
|
|
|
NM_014112.5(TRPS1):c.489_492del (p.Glu165fs)
|
rs1586464368
|
|
NM_014112.5(TRPS1):c.54dup (p.Asn19fs)
|
|
|
NM_014112.5(TRPS1):c.596del (p.Asn199fs)
|
rs2130531960
|
|
NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs)
|
rs2130531887
|
|
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
|
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
NM_014112.5(TRPS1):c.801del (p.Arg268fs)
|
|
|
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)
|
|
|
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)
|
rs1297221126
|
|
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter)
|
rs2130530613
|
|
NM_014694.4(ADAMTSL2):c.234-2A>G
|
rs775621284
|
|
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)
|
rs113994124
|
|
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)
|
rs113994125
|
|
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)
|
rs113994122
|
|
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)
|
rs113994121
|
|
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)
|
rs953298656
|
|
NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys)
|
rs387907065
|
|
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
|
|
|
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)
|
rs1166261279
|
|
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
|
|
|
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
|
|
|
NM_014714.4(IFT140):c.1346del (p.Val449fs)
|
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014714.4(IFT140):c.1525-2A>T
|
rs2141634877
|
|
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
|
|
|
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
|
|
|
NM_014714.4(IFT140):c.169del (p.His57fs)
|
|
|
NM_014714.4(IFT140):c.1795dup (p.Ile599fs)
|
rs2141570994
|
|
NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs)
|
rs2141541431
|
|
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter)
|
rs2141540660
|
|
NM_014714.4(IFT140):c.217_218del (p.Arg73fs)
|
rs2035847573
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)
|
rs1555486629
|
|
NM_014714.4(IFT140):c.2292del (p.Leu765fs)
|
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
|
|
|
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter)
|
rs2141185231
|
|
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
|
|
|
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)
|
rs777399400
|
|
NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
|
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)
|
rs1567330535
|
|
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
|
rs2141179932
|
|
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter)
|
rs372746686
|
|
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
|
|
|
NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter)
|
rs777862012
|
|
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs)
|
rs2040631802
|
|
NM_014714.4(IFT140):c.2987del (p.Asn996fs)
|
|
|
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
|
|
|
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
|
|
|
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter)
|
rs774547622
|
|
NM_014714.4(IFT140):c.3141+1G>T
|
rs764770536
|
|
NM_014714.4(IFT140):c.3192del (p.Glu1065fs)
|
rs1567327347
|
|
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs)
|
rs766084603
|
|
NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
|
|
|
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)
|
rs765669703
|
|
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
|
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
NM_014714.4(IFT140):c.3489del (p.Asn1163fs)
|
rs2141148172
|
|
NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
|
|
|
NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter)
|
rs2141147087
|
|
NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs)
|
rs754400742
|
|
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs)
|
rs2141145188
|
|
NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter)
|
rs2141144931
|
|
NM_014714.4(IFT140):c.378del (p.Leu127fs)
|
|
|
NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
|
|
|
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
|
rs587776909
|
|
NM_014714.4(IFT140):c.3981del (p.Arg1328fs)
|
rs1431530916
|
|
NM_014714.4(IFT140):c.4041-2A>G
|
|
|
NM_014714.4(IFT140):c.482dup (p.Pro162fs)
|
rs763737398
|
|
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)
|
rs559314300
|
|
NM_014714.4(IFT140):c.54del (p.Ser19fs)
|
rs2142100542
|
|
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter)
|
rs2035218747
|
|
NM_014714.4(IFT140):c.565del (p.Ser189fs)
|
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
|
|
|
NM_014714.4(IFT140):c.910del (p.Asp304fs)
|
|
|
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter)
|
rs1307461796
|
|
NM_014714.4:c.(?_-1)_(*1_?)del
|
|
|
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)
|
rs763953657
|
|
NM_019023.5(PRMT7):c.1097G>A (p.Cys366Tyr)
|
rs2151827144
|
|
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)
|
rs1567721991
|
|
NM_019023.5(PRMT7):c.1276-1G>A
|
rs886039897
|
|
NM_019023.5(PRMT7):c.431_432del (p.Glu144fs)
|
rs1567690011
|
|
NM_019023.5(PRMT7):c.622del (p.Gln208fs)
|
rs2151732301
|
|
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
|
|
|
NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter)
|
rs2151436426
|
|
NM_025132.4(WDR19):c.1442A>G (p.His481Arg)
|
rs1729264976
|
|
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)
|
rs766616967
|
|
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
|
|
|
NM_030957.4(ADAMTS10):c.1190+1G>A
|
rs431825170
|
|
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp)
|
rs267606636
|
|
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys)
|
rs267606637
|
|
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter)
|
rs121434357
|
|
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter)
|
rs121434359
|
|
NM_139057.4(ADAMTS17):c.2456-1dup
|
rs387906291
|
|
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)
|
rs1555501030
|
|
NM_139057.4(ADAMTS17):c.662_665del (p.Glu221fs)
|
rs2142079953
|
|
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter)
|
rs267606638
|
|
NM_139057.4(ADAMTS17):c.873+1G>T
|
rs1160509052
|
|
Single allele
|
|
|
inv(8)(q13q24.1)
|
|
|
inv(8)(q21.1q24.1)
|
|
|