NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met)
|
rs151344505
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_000500.9(CYP21A2):c.939+5G>A
|
rs557564791
|
0.00005
|
NM_014055.4(IFT81):c.1441C>T (p.Arg481Ter)
|
rs201791587
|
0.00005
|
NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg)
|
rs1554028127
|
0.00005
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)
|
rs776720609
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs)
|
rs772766995
|
0.00002
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs)
|
rs767996373
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)
|
rs199472793
|
0.00001
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)
|
rs370694515
|
0.00001
|
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)
|
rs772900496
|
0.00001
|
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)
|
rs574370139
|
0.00001
|
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)
|
rs371412889
|
0.00001
|
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)
|
rs746303150
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)
|
rs773048903
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)
|
rs267606700
|
0.00001
|
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=)
|
rs1264949337
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)
|
rs561449819
|
0.00001
|
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)
|
rs113309941
|
0.00001
|
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter)
|
rs758589172
|
0.00001
|
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)
|
rs373331232
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_018946.4(NANS):c.1A>G (p.Met1Val)
|
rs369033671
|
0.00001
|
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu)
|
rs148905512
|
0.00001
|
NC_000009.12:g.94620330_94620492del
|
rs1563984164
|
|
NM_000054.7(AVPR2):c.185T>C (p.Leu62Pro)
|
|
|
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)
|
rs782429199
|
|
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)
|
rs2147448164
|
|
NM_000061.3(BTK):c.1632-2A>T
|
rs886039555
|
|
NM_000061.3(BTK):c.164dup (p.Ile56fs)
|
rs2147447605
|
|
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)
|
rs2147431031
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
NM_000088.4(COL1A1):c.2045del (p.Pro682fs)
|
rs2144560659
|
|
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser)
|
rs1404470949
|
|
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)
|
rs67368147
|
|
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu)
|
rs72653142
|
|
NM_000088.4(COL1A1):c.2831delG
|
rs2144549369
|
|
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala)
|
rs2144542715
|
|
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly)
|
rs2144534929
|
|
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter)
|
rs902407269
|
|
NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys)
|
rs72658134
|
|
NM_000089.4(COL1A2):c.231del (p.Phe77fs)
|
rs2115865220
|
|
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu)
|
rs775246283
|
|
NM_000089.4(COL1A2):c.279+3A>C
|
rs762201938
|
|
NM_000089.4(COL1A2):c.821G>T (p.Gly274Val)
|
|
|
NM_000112.4(SLC26A2):c.1375_1377dup (p.Val459dup)
|
rs2113698643
|
|
NM_000112.4(SLC26A2):c.1382C>T (p.Ala461Val)
|
rs2113698650
|
|
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)
|
rs386833498
|
|
NM_000128.4(F11):c.218+4A>G
|
rs767240420
|
|
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
|
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
|
|
|
NM_000152.5(GAA):c.1551+5G>A
|
rs2039217485
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
|
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
NM_000152.5(GAA):c.2189+5_2189+8del
|
rs2039293139
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000152.5(GAA):c.2481+1G>T
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
NM_000152.5(GAA):c.935del (p.Leu312fs)
|
|
|
NM_000187.4(HGD):c.518T>C (p.Leu173Pro)
|
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs)
|
rs878854349
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)
|
rs199472806
|
|
NM_000218.3(KCNQ1):c.1733-1G>C
|
rs878854348
|
|
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)
|
rs794728536
|
|
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)
|
rs878854347
|
|
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)
|
rs794728513
|
|
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)
|
rs397508126
|
|
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)
|
rs397508127
|
|
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)
|
rs199472970
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)
|
rs398123277
|
|
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg)
|
rs869320653
|
|
NM_000270.4(PNP):c.728A>G (p.Asn243Ser)
|
|
|
NM_000271.5(NPC1):c.1522G>A (p.Asp508Asn)
|
|
|
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
|
|
|
NM_000273.3(GPR143):c.349del (p.Val117fs)
|
|
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.134_135del (p.Leu45fs)
|
rs879253809
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.184del (p.Thr62fs)
|
rs879253812
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly)
|
rs879253801
|
|
NM_000282.4(PCCA):c.431G>T (p.Gly144Val)
|
rs879253808
|
|
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter)
|
rs760387660
|
|
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter)
|
rs879253811
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000288.4(PEX7):c.294del (p.Ala100fs)
|
rs1456007349
|
|
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)
|
rs72549410
|
|
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)
|
rs1926565039
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro)
|
rs760216630
|
|
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)
|
rs574370139
|
|
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)
|
rs2151875445
|
|
NM_000500.9(CYP21A2):c.1118+1G>A
|
rs778895502
|
|
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn)
|
rs1554305880
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser)
|
rs2151876037
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.405del (p.Met136fs)
|
rs2151871966
|
|
NM_000500.9(CYP21A2):c.652-1G>A
|
rs1397184823
|
|
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=)
|
rs1441177352
|
|
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys)
|
rs2151874388
|
|
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg)
|
rs1563983269
|
|
NM_000507.4(FBP1):c.426+1G>T
|
rs1563983184
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000527.5(LDLR):c.1070del (p.Glu357fs)
|
rs1555804717
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
|
rs863225262
|
|
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro)
|
rs869312125
|
|
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His)
|
rs869312124
|
|
NM_001032221.6(STXBP1):c.898del (p.Ser300fs)
|
rs2131481907
|
|
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)
|
rs1057519528
|
|
NM_001089.3(ABCA3):c.1310T>C (p.Leu437Pro)
|
|
|
NM_001102564.3(IFT43):c.509ATG[1] (p.Asp171del)
|
rs2140102081
|
|
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
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NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)
|
rs587776895
|
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NM_001164508.2(NEB):c.21102+5G>A
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NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
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NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs)
|
rs886041961
|
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NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter)
|
rs760636660
|
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NM_001199397.3(NEK1):c.213del (p.Glu72fs)
|
rs2150139071
|
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NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
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NM_001278716.2(FBXL4):c.1787del (p.Ser596fs)
|
rs2128374840
|
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NM_001318525.2(TRAPPC2L):c.33G>A (p.Glu11=)
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NM_001318975.1(BCKDHB):c.-70_-15+207del
|
rs1554180622
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NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)
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|
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NM_001348768.2(HECW2):c.1648G>C (p.Gly550Arg)
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|
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NM_001375524.1(TRRAP):c.9130G>A (p.Ala3044Thr)
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|
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NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)
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|
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NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
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NM_001385012.1(NBEA):c.1747G>A (p.Gly583Ser)
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NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)
|
rs2136577158
|
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NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)
|
rs1447463543
|
|
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)
|
rs2136551606
|
|
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)
|
rs1555165242
|
|
NM_001875.5(CPS1):c.236+4A>G
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|
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NM_001918.5(DBT):c.1033G>A (p.Gly345Arg)
|
rs869312132
|
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NM_001972.4(ELANE):c.182C>T (p.Ala61Val)
|
rs137854447
|
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NM_002340.6(LSS):c.831G>C (p.Arg277Ser)
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|
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NM_002471.4(MYH6):c.4543A>C (p.Thr1515Pro)
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NM_002693.3(POLG):c.368T>G (p.Val123Gly)
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|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)
|
rs200189510
|
|
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)
|
rs1555191598
|
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NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser)
|
rs2105895501
|
|
NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)
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|
|
NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs)
|
rs2140129581
|
|
NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile)
|
|
|
NM_004625.4:c.(71+1_72-1)_(298+1_299-1)del
|
|
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NM_004750.5(CRLF1):c.397+1G>A
|
rs137853932
|
|
NM_004855.5(PIGB):c.847-10A>G
|
rs779296101
|
|
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)
|
rs779321975
|
|
NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)
|
|
|
NM_006839.3(IMMT):c.119+4_119+49del
|
rs748333563
|
|
NM_012154.5(AGO2):c.1015C>T (p.Leu339Phe)
|
|
|
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr)
|
rs1227213671
|
|
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)
|
rs886041505
|
|
NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs)
|
|
|
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs)
|
rs757636489
|
|
NM_024587.4(TMEM53):c.707_715dup (p.Arg238_Arg239insLeuAlaArg)
|
|
|
NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys)
|
|
|
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
|
|
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NM_025132.4(WDR19):c.98+5G>T
|
|
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NM_052845.4(MMAB):c.2T>C (p.Met1Thr)
|
rs869320655
|
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NM_052845.4(MMAB):c.563T>G (p.Val188Gly)
|
rs869320654
|
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NM_080916.3(DGUOK):c.142+4A>C
|
|
|
NM_147127.5(EVC2):c.826_827del (p.Gln276fs)
|
rs758841632
|
|
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)
|
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg)
|
rs869320657
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg)
|
rs2131032901
|
|
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)
|
rs796051939
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
NM_183050.4(BCKDHB):c.197-2A>G
|
rs869312127
|
|
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)
|
rs869312126
|
|
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile)
|
rs869312128
|
|
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn)
|
rs869312130
|
|
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala)
|
rs869312131
|
|