NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)
|
rs2734272
|
0.99956
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
NM_054027.6(ANKH):c.688-14G>A
|
rs187770990
|
0.00755
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)
|
rs112513380
|
0.00173
|
NM_000246.4(CIITA):c.358+11G>A
|
rs118033640
|
0.00155
|
NM_173842.3(IL1RN):c.69G>A (p.Thr23=)
|
rs2232353
|
0.00055
|
NM_000246.4(CIITA):c.*125C>T
|
rs548867769
|
0.00054
|
NM_000246.4(CIITA):c.*465G>A
|
rs190253856
|
0.00052
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)
|
rs138790505
|
0.00029
|
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)
|
rs146424724
|
0.00013
|
NM_000088.4(COL1A1):c.3531+4T>C
|
rs145251615
|
0.00009
|
NM_054027.6(ANKH):c.1338C>T (p.Ile446=)
|
rs756749018
|
0.00009
|
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)
|
rs575285203
|
0.00008
|
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys)
|
rs371519540
|
0.00007
|
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
|
rs375695940
|
0.00006
|
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)
|
rs200188855
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000088.4(COL1A1):c.589-20T>C
|
rs370564344
|
0.00006
|
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu)
|
rs141006925
|
0.00006
|
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)
|
rs142072017
|
0.00006
|
NM_000088.4(COL1A1):c.1200+5G>A
|
rs374322003
|
0.00005
|
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter)
|
rs547662448
|
0.00005
|
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)
|
rs146035171
|
0.00004
|
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val)
|
rs781705610
|
0.00004
|
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu)
|
rs369787912
|
0.00003
|
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)
|
rs72656307
|
0.00002
|
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr)
|
rs771486222
|
0.00002
|
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)
|
rs750126005
|
0.00002
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)
|
rs779846520
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys)
|
rs372705496
|
0.00001
|
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val)
|
rs760864976
|
0.00001
|
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu)
|
rs750740701
|
0.00001
|
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser)
|
rs201764329
|
0.00001
|
NM_001375808.2(LPIN2):c.2547-1G>A
|
rs145858312
|
0.00001
|
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr)
|
rs1202378531
|
0.00001
|
NM_000088.4(COL1A1):c.1056+12dup
|
rs766175536
|
|
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)
|
rs2144576822
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)
|
rs751299130
|
|
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.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
NM_000246.4(CIITA):c.174A>T (p.Gly58=)
|
rs759412177
|
|
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys)
|
rs143304499
|
|
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln)
|
rs143304499
|
|
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly)
|
rs1175375174
|
|
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)
|
rs74806537
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_173842.3(IL1RN):c.300G>A (p.Glu100=)
|
rs776628808
|
|