NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)
|
rs35910969
|
0.01664
|
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)
|
rs119486097
|
0.00351
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser)
|
rs200536604
|
0.00009
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)
|
rs886043590
|
0.00001
|
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
|
|
|
GRCh37/hg19 Xq23(chrX:113097589-114931342)
|
|
|
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
|
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1614+1G>A
|
rs72648357
|
|
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)
|
rs1351742344
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2343+1G>A
|
rs1114167378
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.288del (p.Asp97fs)
|
rs2144593759
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)
|
rs1555571916
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)
|
rs67543427
|
|
NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)
|
rs72658125
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
NM_000089.4(COL1A2):c.1981G>A (p.Gly661Ser)
|
rs72658152
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)
|
rs1209147330
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)
|
rs121908661
|
|
NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe)
|
rs121918610
|
|
NM_003052.5(SLC34A1):c.439G>A (p.Val147Met)
|
rs121918611
|
|
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter)
|
rs1554095568
|
|
NM_005032.7(PLS3):c.1512-1G>T
|
rs2147590595
|
|
NM_005032.7(PLS3):c.216_219del (p.Ser73fs)
|
rs2074664927
|
|
NM_005032.7(PLS3):c.256del (p.Ser86fs)
|
rs1135402748
|
|
NM_005430.4(WNT1):c.465C>A (p.Tyr155Ter)
|
|
|