NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met)
|
rs147104235
|
0.00047
|
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu)
|
rs78534353
|
0.00036
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
|
rs770821909
|
0.00005
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
|
rs145611597
|
0.00004
|
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn)
|
rs372701023
|
0.00002
|
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)
|
rs758785296
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_000067.3(CA2):c.311G>T (p.Gly104Val)
|
rs760867064
|
0.00001
|
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys)
|
rs184945579
|
0.00001
|
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile)
|
rs749136654
|
0.00001
|
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu)
|
rs777178622
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)
|
rs145279140
|
0.00001
|
NM_207122.2(EXT2):c.1712A>G (p.His571Arg)
|
rs150392363
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.266C>T (p.Thr89Met)
|
rs143048174
|
0.00001
|
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)
|
rs1038984851
|
0.00001
|
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr)
|
rs1326355711
|
0.00001
|
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)
|
rs550761834
|
0.00001
|
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
|
rs202208526
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)
|
rs762292898
|
0.00001
|
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu)
|
rs1906769403
|
|
NM_000088.4(COL1A1):c.3207+3A>G
|
rs1906755287
|
|
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
|
rs1242925512
|
|
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
|
|
|
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys)
|
rs202090603
|
|
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu)
|
rs199914625
|
|
NM_152424.4(AMER1):c.1305C>G (p.Gly435=)
|
rs761740157
|
|
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr)
|
rs1269339307
|
|
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr)
|
rs1930205301
|
|
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile)
|
rs1930297677
|
|
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
|
|
|
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
|
|
|
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
|
|
|
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
|
|
|
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
|
|
|
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
|
rs1279920600
|
|
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
|
|
|
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
|
|
|
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
|
|
|
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
|
|
|
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
|
|
|
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
|
|
|
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
|
|
|
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
|
|
|
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
|
|
|
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
|
|
|
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
|
|
|
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
|
|
|
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
|
|
|
NM_207122.2(EXT2):c.1806+3A>C
|
|
|
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
|
|
|
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
|
|
|
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
|
|
|
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
|
|
|
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
|
|
|
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
|
|
|
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
|
|
|
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
|
|
|
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
|
|
|
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
|
|
|
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
|
|
|
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
|
|
|
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
|
|
|
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
|
|
|
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
|
rs1389288265
|
|
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
|
|
|
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
|
rs1954089713
|
|
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
|
rs1240693088
|
|
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
|
rs563383543
|
|
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
|
|
|
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
|
|
|
NM_207122.2(EXT2):c.785A>G (p.His262Arg)
|
rs2135014871
|
|
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
|
|
|
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
|
|
|
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
|
|
|