|
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)
|
rs143212851
|
0.00017
|
|
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)
|
rs550867796
|
0.00003
|
|
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)
|
rs779934676
|
0.00002
|
|
NM_015909.4(NBAS):c.4222C>T (p.Arg1408Cys)
|
rs369879081
|
0.00001
|
|
NM_182943.3(PLOD2):c.1855C>T (p.Arg619Cys)
|
rs759871520
|
0.00001
|
|
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)
|
rs121434461
|
0.00001
|
|
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)
|
rs72648325
|
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
|
NM_000088.4(COL1A1):c.1516-5A>G
|
|
|
|
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)
|
rs72651645
|
|
|
NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu)
|
|
|
|
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)
|
rs72667028
|
|
|
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter)
|
rs72645318
|
|
|
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)
|
rs72645340
|
|
|
NM_000089.4(COL1A2):c.1406G>C (p.Gly469Ala)
|
rs72658119
|
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
|
NM_000089.4(COL1A2):c.1577G>T (p.Gly526Val)
|
|
|
|
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)
|
rs1584325552
|
|
|
NM_000089.4(COL1A2):c.2404G>A (p.Gly802Ser)
|
|
|
|
NM_000089.4(COL1A2):c.2835+1G>A
|
rs72659310
|
|
|
NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)
|
rs67768540
|
|
|
NM_001235.5(SERPINH1):c.1244G>A (p.Arg415Gln)
|
|
|
|
NM_002335.4(LRP5):c.3028-1G>A
|
|
|
|
NM_002335.4(LRP5):c.346G>A (p.Asp116Asn)
|
|
|
|
NM_002335.4(LRP5):c.527T>A (p.Ile176Asn)
|
|
|
|
NM_002615.7(SERPINF1):c.252T>G (p.Ser84Arg)
|
|
|
|
NM_002615.7(SERPINF1):c.786G>C (p.Lys262Asn)
|
|
|
|
NM_003052.5(SLC34A1):c.1052G>A (p.Gly351Glu)
|
|
|
|
NM_003052.5(SLC34A1):c.596A>C (p.Asn199Thr)
|
|
|
|
NM_005430.4(WNT1):c.506dup (p.Cys170fs)
|
rs779969402
|
|
|
NM_006371.5(CRTAP):c.1016dup (p.Tyr340fs)
|
|
|
|
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)
|
rs972668240
|
|
|
NM_007055.4(POLR3A):c.3325del (p.Leu1109fs)
|
|
|
|
NM_015909.4(NBAS):c.3577A>G (p.Met1193Val)
|
|
|
|
NM_015909.4(NBAS):c.6237-3C>G
|
|
|
|
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)
|
rs776597537
|
|
|
NM_021939.4(FKBP10):c.1034del (p.Pro345fs)
|
|
|
|
NM_021939.4(FKBP10):c.1619_1623delinsT (p.Gly540fs)
|
|
|
|
NM_021939.4(FKBP10):c.21dup (p.Ser8fs)
|
rs782271121
|
|
|
NM_022356.4(P3H1):c.1346-1G>C
|
rs886042897
|
|
|
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
|
|
|
|
NM_022356.4(P3H1):c.1667del (p.Asp556fs)
|
rs2124093521
|
|
|
NM_022356.4(P3H1):c.1915-1G>A
|
rs2124077667
|
|
|
NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)
|
|
|
|
NM_022356.4(P3H1):c.2065C>T (p.Gln689Ter)
|
|
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
|
NM_022356.4(P3H1):c.572del (p.Gly191fs)
|
|
|
|
NM_152281.3(GORAB):c.1A>G (p.Met1Val)
|
|
|