NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_145261.4(DNAJC19):c.300del (p.Ala101fs)
|
rs587777224
|
0.00022
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)
|
rs200212229
|
0.00012
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)
|
rs1220930025
|
0.00006
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
|
rs774722200
|
0.00004
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)
|
rs374473067
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)
|
rs786205138
|
0.00003
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
0.00003
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
NM_001698.3(AUH):c.80del (p.Ser27fs)
|
rs730880310
|
0.00003
|
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
|
rs201941476
|
0.00003
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001698.3(AUH):c.505+1G>C
|
rs773652620
|
0.00002
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)
|
rs1300848445
|
0.00001
|
NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln)
|
rs778355943
|
0.00001
|
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)
|
rs1305711807
|
0.00001
|
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)
|
rs1449758112
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter)
|
rs774185980
|
0.00001
|
NM_001698.3(AUH):c.263-2A>G
|
rs730880311
|
0.00001
|
NM_001698.3(AUH):c.943-2A>G
|
rs730880312
|
0.00001
|
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln)
|
rs767006508
|
0.00001
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter)
|
rs780554501
|
0.00001
|
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)
|
rs758745099
|
0.00001
|
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)
|
rs199632531
|
0.00001
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)
|
rs780664696
|
0.00001
|
NM_145261.4(DNAJC19):c.130-1G>C
|
rs137854888
|
0.00001
|
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)
|
rs1560040369
|
0.00001
|
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
|
|
|
NC_000003.11:g.(?_180332709)_(180707390_?)del
|
|
|
NC_000003.11:g.(?_180707368)_(180707390_?)del
|
|
|
NC_000006.11:g.(?_158532398)_(162868359_?)del
|
|
|
NC_000009.12:g.(?_91220785)_(91221012_?)del
|
|
|
NC_000009.12:g.91220993dup
|
rs781142774
|
|
NC_000011.10:g.(?_72293347)_(72434494_?)del
|
|
|
NC_000011.10:g.(?_72372905)_(72380404_?)del
|
|
|
NC_000011.9:g.(?_72004411)_(72006712_?)del
|
|
|
NC_000011.9:g.(?_72145096)_(72145518_?)del
|
|
|
NC_000011.9:g.(?_72145398)_(72145517_?)del
|
|
|
NC_000011.9:g.(?_72145398)_(72150823_?)del
|
|
|
NC_000019.10:g.(?_45584613)_(45584774_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NG_008017.1:g.?_(11043_41520)del
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.239-1G>A
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.239-1G>C
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.284+110G>A
|
rs1603377747
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)
|
rs397515741
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
NM_000116.5(TAFAZZIN):c.461-2A>G
|
rs876661038
|
|
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)
|
rs878853656
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)
|
rs1603381671
|
|
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)
|
rs2148212610
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
NM_000116.5(TAFAZZIN):c.647-1G>C
|
rs587776741
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
NM_000116.5(TAFAZZIN):c.700-1G>A
|
rs397515747
|
|
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
|
|
|
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)
|
rs727504394
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
|
|
|
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala)
|
rs776019250
|
|
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)
|
rs35135520
|
|
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)
|
rs1244226820
|
|
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)
|
rs797044891
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.3329+1G>T
|
rs1205598688
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
|
rs2131820786
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
|
|
|
NM_001258392.3(CLPB):c.1167+5G>T
|
rs1565424666
|
|
NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu)
|
rs2135500838
|
|
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
|
|
|
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
|
|
|
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)
|
rs2135485868
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
NM_001258392.3(CLPB):c.1595del (p.Ile532fs)
|
rs876657402
|
|
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)
|
rs748010262
|
|
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)
|
|
|
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
|
rs368496010
|
|
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
|
|
|
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
|
rs1856508068
|
|
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)
|
rs777202372
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)
|
rs786205139
|
|
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
|
|
|
NM_001698.3(AUH):c.197del (p.Gly66fs)
|
rs1219516037
|
|
NM_001698.3(AUH):c.330+1G>A
|
rs751318305
|
|
NM_001698.3(AUH):c.39dup (p.Ser14fs)
|
|
|
NM_001698.3(AUH):c.419-2A>G
|
|
|
NM_001698.3(AUH):c.471del (p.Phe157fs)
|
|
|
NM_001698.3(AUH):c.516dup (p.Val173fs)
|
|
|
NM_001698.3(AUH):c.559G>A (p.Gly187Ser)
|
rs387906755
|
|
NM_001698.3(AUH):c.650G>A (p.Gly217Asp)
|
rs387906756
|
|
NM_001698.3(AUH):c.895-1G>A
|
rs730880309
|
|
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs)
|
rs1057519080
|
|
NM_013247.5(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer)
|
rs1057519082
|
|
NM_013247.5(HTRA2):c.906+1G>C
|
rs1057519081
|
|
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
|
|
|
NM_025136.4(OPA3):c.143-1G>A
|
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_025136.4(OPA3):c.143-2_143-1delinsCC
|
rs1969382362
|
|
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
|
rs80356525
|
|
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)
|
rs80356526
|
|
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)
|
rs1969907819
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_030813.6(CLPB):c.654dup (p.Gln219fs)
|
rs1951072912
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_032861.4(SERAC1):c.1167_1170del
|
rs772296795
|
|
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
|
|
|
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
|
|
|
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
|
|
|
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
|
|
|
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs)
|
rs780275814
|
|
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
|
|
|
NM_032861.4(SERAC1):c.1403+1G>A
|
rs1131690799
|
|
NM_032861.4(SERAC1):c.1403+1G>C
|
rs1131690799
|
|
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del)
|
rs1199625391
|
|
NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del)
|
rs759351997
|
|
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)
|
rs1554261079
|
|
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs)
|
rs767780913
|
|
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)
|
rs761964407
|
|
NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs)
|
rs2128409409
|
|
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)
|
rs886041750
|
|
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
|
|
|
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
|
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter)
|
rs1383515185
|
|
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
|
|
|
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
|
|
|
NM_032861.4(SERAC1):c.91+6T>C
|
rs1554265452
|
|
NM_032861.4(SERAC1):c.92-165C>T
|
rs1562458862
|
|
NM_032861.4(SERAC1):c.92-239G>C
|
rs1562458915
|
|
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
|
|
|
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)
|
rs1715007577
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|