NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)
|
rs1057521085
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter)
|
rs2098673217
|
0.00001
|
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)
|
rs752575140
|
0.00001
|
NM_000088.4(COL1A1):c.1057-2A>T
|
rs66511271
|
|
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs)
|
rs2144570980
|
|
NM_000088.4(COL1A1):c.1614+1G>T
|
rs72648357
|
|
NM_000088.4(COL1A1):c.1745del (p.Phe582fs)
|
rs2144569160
|
|
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)
|
rs72651626
|
|
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)
|
rs1907108266
|
|
NM_000088.4(COL1A1):c.2097del (p.Asn700fs)
|
rs72651643
|
|
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs)
|
rs1906989648
|
|
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)
|
rs1598290382
|
|
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)
|
rs1906940342
|
|
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp)
|
rs72653130
|
|
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs)
|
rs1114167392
|
|
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs)
|
rs2144547648
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp)
|
rs1275118660
|
|
NM_000088.4(COL1A1):c.334-9A>G
|
rs1567764387
|
|
NM_000088.4(COL1A1):c.3531+1G>A
|
rs72656326
|
|
NM_000088.4(COL1A1):c.543+2T>C
|
rs2144588834
|
|
NM_000088.4(COL1A1):c.904-1G>T
|
rs1907593112
|
|
NM_000088.4(COL1A1):c.916_917del (p.Leu306fs)
|
rs2144580715
|
|
NM_000088.4(COL1A1):c.958-1G>C
|
rs72645352
|
|
NM_000088.4(COL1A1):c.977dup (p.Ala327fs)
|
rs2144579919
|
|
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs)
|
rs2144579745
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala)
|
rs72658122
|
|
NM_000089.4(COL1A2):c.1503+1G>A
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)
|
rs2115917195
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp)
|
rs72658178
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.486+2T>G
|
rs2115877489
|
|
NM_000089.4(COL1A2):c.713G>T (p.Gly238Val)
|
rs1188265845
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)
|
rs779832611
|
|
NM_002335.4(LRP5):c.1A>G (p.Met1Val)
|
rs2153110162
|
|
NM_002335.4(LRP5):c.884-2A>G
|
rs2153140527
|
|
NM_002615.7(SERPINF1):c.787-10C>G
|
rs1908037067
|
|
NM_022356.4(P3H1):c.1667del (p.Asp556fs)
|
rs2124093521
|
|