NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)
|
rs63750759
|
0.00069
|
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)
|
rs72650699
|
0.00019
|
NM_001171.6(ABCC6):c.2787+1G>T
|
rs72664209
|
0.00017
|
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)
|
rs72653744
|
0.00012
|
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)
|
rs374270497
|
0.00010
|
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)
|
rs67561842
|
0.00006
|
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)
|
rs72664233
|
0.00005
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00004
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)
|
rs63751001
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
|
rs63750622
|
0.00003
|
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)
|
rs72664237
|
0.00003
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
NM_001171.6(ABCC6):c.3507-1G>A
|
rs72664210
|
0.00001
|
NM_001171.6(ABCC6):c.3736-1G>A
|
rs63750273
|
0.00001
|
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)
|
rs72653749
|
0.00001
|
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)
|
rs373044722
|
0.00001
|
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe)
|
rs121918024
|
0.00001
|
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)
|
rs777367269
|
0.00001
|
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)
|
rs1782357136
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
|
|
|
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
|
|
|
NC_000006.12:g.131688637_132215008del
|
|
|
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)
|
rs72650698
|
|
NM_001171.6(ABCC6):c.1674del (p.Glu559fs)
|
rs1313008538
|
|
NM_001171.6(ABCC6):c.1999del (p.Ala667fs)
|
rs72664227
|
|
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)
|
rs72650701
|
|
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)
|
rs72664220
|
|
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)
|
rs387906859
|
|
NM_001171.6(ABCC6):c.450dup (p.Ala151fs)
|
rs387906860
|
|
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)
|
rs121918025
|
|
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs)
|
rs1554203715
|
|
NM_006208.3(ENPP1):c.1094del (p.Pro365fs)
|
rs2114706946
|
|
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe)
|
rs121918026
|
|
NM_006208.3(ENPP1):c.1273+2T>C
|
rs2114710332
|
|
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His)
|
rs387906673
|
|
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs)
|
rs2114643507
|
|
NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter)
|
rs1167413684
|
|
NM_006208.3(ENPP1):c.2101-2A>T
|
rs1585841844
|
|
NM_006208.3(ENPP1):c.2192del (p.Asn731fs)
|
rs2114726975
|
|
NM_006208.3(ENPP1):c.2230+1G>A
|
|
|
NM_006208.3(ENPP1):c.2230+5G>A
|
|
|
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter)
|
rs2114727013
|
|
NM_006208.3(ENPP1):c.2300del (p.Gln767fs)
|
rs2114728448
|
|
NM_006208.3(ENPP1):c.2664del (p.Ile889fs)
|
rs2114737043
|
|
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter)
|
rs121918023
|
|
NM_006208.3(ENPP1):c.26dup (p.Gly10fs)
|
rs1470739291
|
|
NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter)
|
rs751725130
|
|
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)
|
rs1805101
|
|
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg)
|
rs1781877793
|
|
NM_006208.3(ENPP1):c.574del (p.Glu192fs)
|
rs1234826768
|
|
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)
|
rs267606784
|
|
NM_006208.3(ENPP1):c.795+1G>A
|
rs753851892
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs)
|
rs1401810953
|
|
NM_006208.3(ENPP1):c.915+1G>A
|
rs2114702198
|
|
NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del
|
|
|