NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_022356.4(P3H1):c.1080+1G>T
|
rs72659351
|
0.00068
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
0.00007
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
NM_000942.5(PPIB):c.556_559del (p.Lys186fs)
|
rs137853869
|
0.00002
|
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)
|
rs72651658
|
0.00001
|
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)
|
rs72656314
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)
|
rs72656392
|
0.00001
|
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)
|
rs371243939
|
0.00001
|
NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)
|
rs199606428
|
0.00001
|
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)
|
rs387906960
|
0.00001
|
NC_000009.11:g.(?_108456805)_(108468035_108483817)del
|
|
|
NC_000017.11:g.(?_50193945)_(50201396_?)del
|
|
|
NC_000017.11:g.50198206del
|
rs1907770102
|
|
NM_000088.3(COL1A1):c.700delG
|
rs2144584155
|
|
NM_000088.3(COL1A1):c.700dup
|
rs2144584155
|
|
NM_000088.4(COL1A1):c.1001del (p.Pro334fs)
|
rs150572711
|
|
NM_000088.4(COL1A1):c.103+2T>C
|
rs1908083033
|
|
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)
|
rs72645366
|
|
NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys)
|
rs72645367
|
|
NM_000088.4(COL1A1):c.1200+1G>A
|
rs72648320
|
|
NM_000088.4(COL1A1):c.1201-1G>A
|
rs72648321
|
|
NM_000088.4(COL1A1):c.120C>A (p.Cys40Ter)
|
rs762780039
|
|
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val)
|
rs1135401953
|
|
NM_000088.4(COL1A1):c.1281del (p.Gly428fs)
|
rs1907477506
|
|
NM_000088.4(COL1A1):c.1426G>A (p.Gly476Arg)
|
|
|
NM_000088.4(COL1A1):c.1492del (p.Ala498fs)
|
rs1598295794
|
|
NM_000088.4(COL1A1):c.1516-1G>C
|
rs72648352
|
|
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs)
|
|
|
NM_000088.4(COL1A1):c.1646del (p.Pro549fs)
|
rs1907351704
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)
|
rs72651614
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1821+1G>C
|
rs66555264
|
|
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter)
|
rs1598293920
|
|
NM_000088.4(COL1A1):c.1984-2A>C
|
rs72651632
|
|
NM_000088.4(COL1A1):c.2102del (p.Gly701fs)
|
rs1907103040
|
|
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser)
|
rs72651647
|
|
NM_000088.4(COL1A1):c.2560-1G>A
|
rs72653139
|
|
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)
|
rs72653147
|
|
NM_000088.4(COL1A1):c.2667+1G>C
|
rs72653150
|
|
NM_000088.4(COL1A1):c.2830-1G>A
|
rs111594467
|
|
NM_000088.4(COL1A1):c.2831delG
|
rs2144549369
|
|
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs)
|
rs72653168
|
|
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)
|
rs2144547622
|
|
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val)
|
rs67771061
|
|
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)
|
rs72653173
|
|
NM_000088.4(COL1A1):c.3099+1G>A
|
rs1555572316
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs)
|
rs1555572125
|
|
NM_000088.4(COL1A1):c.3370-1G>C
|
rs112042777
|
|
NM_000088.4(COL1A1):c.3421del (p.Arg1141fs)
|
rs1598286543
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.3531+1G>A
|
rs72656326
|
|
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter)
|
rs1555571766
|
|
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter)
|
rs868166455
|
|
NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter)
|
rs2586486
|
|
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter)
|
rs902407269
|
|
NM_000088.4(COL1A1):c.4248+1G>A
|
rs111953130
|
|
NM_000088.4(COL1A1):c.543+1G>C
|
rs2144588841
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.580G>C (p.Gly194Arg)
|
rs72667024
|
|
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)
|
rs72667036
|
|
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter)
|
rs72645318
|
|
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)
|
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg)
|
rs72645323
|
|
NM_000088.4(COL1A1):c.801_802del (p.His267fs)
|
rs1567762262
|
|
NM_000088.4(COL1A1):c.835_836delinsTCCTGCTGGTCC (p.Asp279fs)
|
rs2144581910
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg)
|
rs2115898280
|
|
NM_000089.4(COL1A2):c.1414G>C (p.Gly472Arg)
|
rs121912906
|
|
NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp)
|
rs1584322496
|
|
NM_000089.4(COL1A2):c.1676G>A (p.Gly559Asp)
|
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)
|
rs72658173
|
|
NM_000089.4(COL1A2):c.2314G>T (p.Gly772Cys)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2396G>A (p.Gly799Glu)
|
rs2115937116
|
|
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser)
|
rs72658193
|
|
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser)
|
rs72658200
|
|
NM_000089.4(COL1A2):c.2684G>A (p.Gly895Asp)
|
rs72659305
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
NM_000089.4(COL1A2):c.957_974dup (p.Ala320_Gly325dup)
|
rs1791878922
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_002335.4(LRP5):c.209T>A (p.Phe70Tyr)
|
rs2153129403
|
|
NM_002335.4(LRP5):c.210C>A (p.Phe70Leu)
|
rs771043544
|
|
NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3])
|
rs758551389
|
|
NM_002615.7(SERPINF1):c.808G>T (p.Gly270Ter)
|
rs369314029
|
|
NM_002615.7(SERPINF1):c.925_926del (p.Gln309fs)
|
rs1908050941
|
|
NM_005430.4(WNT1):c.506dup (p.Cys170fs)
|
rs779969402
|
|
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)
|
rs137853939
|
|
NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)
|
rs869320752
|
|
NM_022356.4(P3H1):c.541C>T (p.Gln181Ter)
|
rs1570479611
|
|
NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del)
|
rs1555222973
|
|