NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)
|
rs143655263
|
0.00303
|
NM_001105247.2(ARMC5):c.1864+198T>A
|
rs150981686
|
0.00129
|
NM_182977.3(NNT):c.1817T>C (p.Val606Ala)
|
rs139379760
|
0.00044
|
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
|
rs188985665
|
0.00042
|
NM_182977.3(NNT):c.1424C>T (p.Thr475Met)
|
rs141791856
|
0.00042
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_001370259.2(MEN1):c.-23-135G>A
|
rs587777949
|
0.00012
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu)
|
rs368331265
|
0.00011
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln)
|
rs182877860
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)
|
rs1249001227
|
0.00008
|
NM_000383.4(AIRE):c.652+15G>A
|
rs760027964
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)
|
rs375401465
|
0.00007
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
|
rs374659656
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr)
|
rs371810618
|
0.00004
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)
|
rs773089218
|
0.00003
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)
|
rs759337318
|
0.00002
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)
|
rs373135175
|
0.00002
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
0.00002
|
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)
|
rs772153618
|
0.00002
|
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg)
|
rs751136795
|
0.00001
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)
|
rs748152068
|
0.00001
|
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)
|
rs772551729
|
0.00001
|
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His)
|
rs752232472
|
0.00001
|
NM_001128840.3(CACNA1D):c.4924-6A>G
|
rs1475661078
|
0.00001
|
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg)
|
rs1176833638
|
0.00001
|
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val)
|
rs377715802
|
0.00001
|
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)
|
rs1225964479
|
0.00001
|
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys)
|
rs773978650
|
0.00001
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)
|
rs1411766225
|
0.00001
|
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)
|
rs150308912
|
0.00001
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)
|
rs1114167507
|
0.00001
|
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg)
|
rs1555165742
|
0.00001
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)
|
rs760289964
|
0.00001
|
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)
|
rs368619946
|
0.00001
|
NM_001756.4(SERPINA6):c.539G>A (p.Gly180Glu)
|
rs769978145
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
|
rs768360710
|
0.00001
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)
|
rs1451389209
|
0.00001
|
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)
|
rs1024081498
|
0.00001
|
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
0.00001
|
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)
|
rs1348645128
|
0.00001
|
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)
|
rs1485424649
|
0.00001
|
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)
|
rs41271081
|
0.00001
|
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)
|
rs1451092520
|
0.00001
|
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile)
|
rs2091762306
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
|
|
|
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr)
|
rs2091775448
|
|
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe)
|
rs879952582
|
|
NM_000176.3(NR3C1):c.2114A>G (p.Glu705Gly)
|
|
|
NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)
|
rs28934593
|
|
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
|
rs1651920667
|
|
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
|
|
|
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
|
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
|
|
|
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln)
|
rs2094189629
|
|
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1050-3C>G
|
|
|
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
|
|
|
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
|
|
|
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
|
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val)
|
rs878855186
|
|
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
|
|
|
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro)
|
rs200035619
|
|
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)
|
rs748102589
|
|
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
|
|
|
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln)
|
rs753185026
|
|
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
|
|
|
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
|
|
|
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr)
|
rs1941501393
|
|
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro)
|
rs1555163185
|
|
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)
|
rs1328296968
|
|
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)
|
rs1942005110
|
|
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)
|
rs1060499995
|
|
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
|
|
|
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
|
|
|
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
|
|
|
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)
|
rs1565651820
|
|
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
|
|
|
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe)
|
rs376510601
|
|
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
|
|
|
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
|
|
|
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
|
|
|
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
|
|
|
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)
|
rs1060499982
|
|
NM_001370259.2(MEN1):c.691G>C (p.Asp231His)
|
rs1941827572
|
|
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
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NM_001370259.2(MEN1):c.754G>C (p.Asp252His)
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rs770368608
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NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro)
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rs1592647333
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NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)
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rs1060499977
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NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser)
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rs1941726727
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NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)
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rs1555165089
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NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
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rs72557946
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NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
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NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
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NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
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NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
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rs140490467
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NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
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rs1176118785
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NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
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NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
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rs200131173
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NM_003000.3(SDHB):c.73-29del
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rs745905902
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NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
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rs748683825
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NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr)
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rs779068288
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NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
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NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
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rs371977724
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NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
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rs1862011610
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NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
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rs781702725
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NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
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rs1554983610
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NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
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rs779335034
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NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
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NM_017841.4(SDHAF2):c.371-4G>C
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NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
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NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
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NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
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NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
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NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
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rs1456398772
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NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
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NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)
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rs786202314
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NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
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rs1684396239
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NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
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NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
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NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
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NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
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NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
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NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
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rs1684152230
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NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)
|
rs2104308338
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NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
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NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
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rs761885719
|
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NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
|
rs373781978
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NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
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NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
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NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
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NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
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NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys)
|
rs773893318
|
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