NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
NM_002529.4(NTRK1):c.575-19G>A
|
rs370828525
|
0.00005
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
|
rs568132506
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)
|
rs778055996
|
0.00003
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)
|
rs749282641
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_014625.4(NPHS2):c.873+2T>A
|
rs967339926
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)
|
rs727503072
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.782G>T (p.Gly261Val)
|
rs869312401
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)
|
rs386134223
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|