NM_033641.4(COL4A6):c.2808T>C (p.Arg936=)
|
rs4623610
|
0.98777
|
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro)
|
rs1042065
|
0.74364
|
NM_033641.4(COL4A6):c.2956+39G>A
|
rs2295914
|
0.64644
|
NM_033641.4(COL4A6):c.949-31C>G
|
rs1266719
|
0.62433
|
NM_004208.4(AIFM1):c.273T>C (p.Asp91=)
|
rs1139851
|
0.50355
|
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=)
|
rs5973851
|
0.26004
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=)
|
rs2295912
|
0.05171
|
NM_033641.4(COL4A6):c.4812+8C>T
|
rs73251797
|
0.05127
|
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val)
|
rs34466065
|
0.03911
|
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser)
|
rs35179844
|
0.03732
|
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=)
|
rs34132805
|
0.03145
|
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro)
|
rs35363062
|
0.03050
|
NM_033641.4(COL4A6):c.303T>C (p.Phe101=)
|
rs149820261
|
0.01271
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser)
|
rs145388022
|
0.00827
|
NM_033641.4(COL4A6):c.3139-4G>A
|
rs185777707
|
0.00750
|
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu)
|
rs139802816
|
0.00690
|
NM_033641.4(COL4A6):c.4070-17C>T
|
rs141656095
|
0.00646
|
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)
|
rs61735617
|
0.00632
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu)
|
rs144792752
|
0.00553
|
NM_004208.4(AIFM1):c.1833T>C (p.His611=)
|
rs73556209
|
0.00551
|
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=)
|
rs142057815
|
0.00526
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)
|
rs61730896
|
0.00489
|
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile)
|
rs143146797
|
0.00431
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_033641.4(COL4A6):c.528T>G (p.Pro176=)
|
rs12390371
|
0.00296
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=)
|
rs144145420
|
0.00192
|
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)
|
rs61730898
|
0.00188
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=)
|
rs139372880
|
0.00149
|
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=)
|
rs144803723
|
0.00149
|
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=)
|
rs60172559
|
0.00145
|
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=)
|
rs149715446
|
0.00130
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)
|
rs144417952
|
0.00110
|
NM_004208.4(AIFM1):c.606-15C>T
|
rs191297808
|
0.00109
|
NM_000307.5(POU3F4):c.*105C>T
|
rs777244703
|
0.00107
|
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His)
|
rs148929548
|
0.00100
|
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln)
|
rs146510405
|
0.00091
|
NM_033641.4(COL4A6):c.3138+17C>T
|
rs369016527
|
0.00090
|
NM_033641.4(COL4A6):c.432C>T (p.Leu144=)
|
rs2295920
|
0.00086
|
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=)
|
rs139740946
|
0.00083
|
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln)
|
rs142508831
|
0.00077
|
NM_000307.5(POU3F4):c.*192T>C
|
rs775863791
|
0.00075
|
NM_002764.4(PRPS1):c.447G>A (p.Pro149=)
|
rs80338730
|
0.00068
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=)
|
rs2294464
|
0.00063
|
NM_004004.6(GJB2):c.*115A>C
|
rs557953001
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_002764.3(PRPS1):c.-153delG
|
rs768856537
|
0.00057
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_002764.4(PRPS1):c.705-11T>C
|
rs190164271
|
0.00052
|
NM_014332.3(SMPX):c.132G>A (p.Glu44=)
|
rs199907508
|
0.00052
|
NM_002764.4(PRPS1):c.*725T>C
|
rs183744100
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=)
|
rs139333183
|
0.00046
|
NM_002764.4(PRPS1):c.*158C>T
|
rs777440100
|
0.00042
|
NM_002764.4(PRPS1):c.573G>A (p.Leu191=)
|
rs770518315
|
0.00035
|
NM_014332.3(SMPX):c.*395T>G
|
rs765339045
|
0.00035
|
NM_033641.4(COL4A6):c.3809-14G>A
|
rs192754010
|
0.00032
|
NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=)
|
rs147362613
|
0.00032
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu)
|
rs140900431
|
0.00020
|
NM_002764.4(PRPS1):c.*159G>A
|
rs747334780
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys)
|
rs376450994
|
0.00016
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_002764.4(PRPS1):c.*166G>A
|
rs371265973
|
0.00014
|
NM_002764.4(PRPS1):c.*88C>T
|
rs1057515726
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_000307.5(POU3F4):c.753G>A (p.Leu251=)
|
rs779713849
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_033641.4(COL4A6):c.835-6A>G
|
rs189915873
|
0.00013
|
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)
|
rs202020213
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375
|
0.00010
|
NM_000307.5(POU3F4):c.*22C>G
|
rs201213510
|
0.00009
|
NM_002764.4(PRPS1):c.*762G>T
|
rs768310830
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004004.6(GJB2):c.-1G>A
|
rs768338285
|
0.00006
|
NM_033641.4(COL4A6):c.672A>G (p.Gly224=)
|
rs762112922
|
0.00006
|
NM_000307.5(POU3F4):c.24C>T (p.Pro8=)
|
rs756362293
|
0.00005
|
NM_002764.4(PRPS1):c.*538G>T
|
rs1057515727
|
0.00005
|
NM_002764.4(PRPS1):c.288G>A (p.Arg96=)
|
rs752194539
|
0.00005
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)
|
rs189971962
|
0.00004
|
NM_002764.4(PRPS1):c.*423T>A
|
rs1397267425
|
0.00004
|
NM_002764.4(PRPS1):c.*726C>T
|
rs1012116674
|
0.00004
|
NM_002764.4(PRPS1):c.720C>T (p.Gly240=)
|
rs746885792
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
0.00004
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
0.00004
|
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)
|
rs184474885
|
0.00004
|
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)
|
rs770657036
|
0.00003
|
NM_002764.4(PRPS1):c.444G>A (p.Glu148=)
|
rs201285459
|
0.00003
|
NM_002764.4(PRPS1):c.611G>A (p.Arg204His)
|
rs1169615098
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)
|
rs763572195
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=)
|
rs724160027
|
0.00003
|
NM_014332.3(SMPX):c.-103C>T
|
rs1301418010
|
0.00003
|
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)
|
rs779748859
|
0.00003
|
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=)
|
rs200299007
|
0.00003
|
NM_000307.5(POU3F4):c.*297T>C
|
rs1297004201
|
0.00002
|
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg)
|
rs773169987
|
0.00002
|
NM_002764.4(PRPS1):c.*178G>A
|
rs576933222
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)
|
rs724160019
|
0.00002
|
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)
|
rs766360534
|
0.00002
|
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)
|
rs1354177998
|
0.00001
|
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)
|
rs750540794
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)
|
rs751440971
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)
|
rs375759781
|
0.00001
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)
|
rs1555341850
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)
|
rs724160023
|
0.00001
|
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)
|
rs1375125488
|
0.00001
|
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)
|
rs724160017
|
0.00001
|
NM_033641.4(COL4A6):c.114C>T (p.Ser38=)
|
rs377506539
|
0.00001
|
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe)
|
rs748877857
|
0.00001
|
NM_000307.5(POU3F4):c.*141T>C
|
rs368408951
|
|
NM_000307.5(POU3F4):c.*227CTTCC[3]
|
rs763018226
|
|
NM_000307.5(POU3F4):c.*41C>A
|
rs1057516008
|
|
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)
|
rs104894922
|
|
NM_000307.5(POU3F4):c.1060del (p.Thr354fs)
|
rs398122517
|
|
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
|
|
|
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter)
|
rs1454033665
|
|
NM_000307.5(POU3F4):c.220del (p.Ser74fs)
|
|
|
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)
|
rs878853242
|
|
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)
|
rs1569280138
|
|
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
|
|
|
NM_000307.5(POU3F4):c.340dup (p.Trp114fs)
|
rs2147996471
|
|
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)
|
rs1178113212
|
|
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)
|
rs104894920
|
|
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)
|
rs876657719
|
|
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)
|
|
|
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs)
|
rs2147996672
|
|
NM_000307.5(POU3F4):c.648del (p.Leu217fs)
|
rs1555984570
|
|
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs)
|
rs2147996200
|
|
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter)
|
rs1199790524
|
|
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)
|
rs397516335
|
|
NM_000307.5(POU3F4):c.708= (p.Glu236=)
|
rs5921978
|
|
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
|
|
|
NM_000307.5(POU3F4):c.710= (p.Ala237=)
|
rs5921979
|
|
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
|
|
|
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
|
|
|
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
|
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)
|
rs397516336
|
|
NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)
|
|
|
NM_000307.5(POU3F4):c.862_865del (p.Val289fs)
|
rs730882189
|
|
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)
|
rs780027419
|
|
NM_000307.5(POU3F4):c.896del (p.Lys299fs)
|
rs267606974
|
|
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)
|
|
|
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
|
|
|
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)
|
rs387906502
|
|
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)
|
rs104894921
|
|
NM_000307.5(POU3F4):c.950dup (p.Leu317fs)
|
rs398122516
|
|
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)
|
rs104894924
|
|
NM_000307.5(POU3F4):c.968G>A (p.Arg323His)
|
rs727505246
|
|
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)
|
rs1569280385
|
|
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)
|
|
|
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
|
|
|
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)
|
rs926775037
|
|
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
|
|
|
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)
|
rs104894923
|
|
NM_001110219.3(GJB6):c.*227dup
|
rs368264636
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)
|
rs571454176
|
|
NM_002764.4(PRPS1):c.*137C>T
|
rs1126445
|
|
NM_002764.4(PRPS1):c.*389G>A
|
rs5962870
|
|
NM_002764.4(PRPS1):c.*389G>C
|
rs5962870
|
|
NM_002764.4(PRPS1):c.*508G>C
|
rs1198892283
|
|
NM_002764.4(PRPS1):c.*538G>C
|
rs1057515727
|
|
NM_002764.4(PRPS1):c.*539G>C
|
rs370453137
|
|
NM_002764.4(PRPS1):c.*539G>T
|
rs370453137
|
|
NM_002764.4(PRPS1):c.*608C>T
|
rs1925809901
|
|
NM_002764.4(PRPS1):c.*938dup
|
rs1057515728
|
|
NM_002764.4(PRPS1):c.123-16dup
|
rs750392051
|
|
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)
|
rs180177151
|
|
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
|
|
|
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)
|
rs180177152
|
|
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile)
|
rs2147682370
|
|
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser)
|
rs587781261
|
|
NM_002764.4(PRPS1):c.343A>G (p.Met115Val)
|
rs587781262
|
|
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)
|
rs869025593
|
|
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr)
|
rs180177153
|
|
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg)
|
rs180177154
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
|
rs727503066
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004208.4(AIFM1):c.-123G>C
|
rs724160014
|
|
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)
|
rs724160026
|
|
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr)
|
rs1603222490
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val)
|
rs724160025
|
|
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)
|
rs863225431
|
|
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)
|
rs724160022
|
|
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)
|
rs724160024
|
|
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
|
|
|
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
|
|
|
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)
|
rs724160015
|
|
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)
|
rs724160016
|
|
NM_004208.4(AIFM1):c.597A>G (p.Lys199=)
|
rs143670174
|
|
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala)
|
rs863225432
|
|
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)
|
rs724160018
|
|
NM_004208.4(AIFM1):c.994C>G (p.Gln332Glu)
|
rs2124653092
|
|
NM_014332.3(SMPX):c.*181A>G
|
rs2092772738
|
|
NM_014332.3(SMPX):c.*232T>G
|
rs1313352273
|
|
NM_014332.3(SMPX):c.*45A>T
|
rs1057515838
|
|
NM_014332.3(SMPX):c.-54G>A
|
rs1057515840
|
|
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)
|
rs387906707
|
|
NM_014332.3(SMPX):c.130del (p.Glu44fs)
|
rs398122848
|
|
NM_014332.3(SMPX):c.132+1G>A
|
rs2147390444
|
|
NM_014332.3(SMPX):c.133-1G>A
|
rs1060499590
|
|
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)
|
rs387906706
|
|
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)
|
rs387906708
|
|
NM_014332.3(SMPX):c.217del (p.Ile73fs)
|
|
|
NM_014332.3(SMPX):c.264G>A (p.Gln88=)
|
rs1057515839
|
|
NM_014332.3(SMPX):c.29del (p.Asn10fs)
|
rs2092830420
|
|
NM_014332.3(SMPX):c.99del (p.Arg34fs)
|
rs398122930
|
|
NM_033641.4(COL4A6):c.1180+4dup
|
rs368897242
|
|
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln)
|
rs34740537
|
|
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu)
|
rs34740537
|
|
NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA
|
rs146680910
|
|
NM_033641.4(COL4A6):c.2132-6G>A
|
rs201589060
|
|
NM_033641.4(COL4A6):c.2132-6G>T
|
rs201589060
|
|
NM_033641.4(COL4A6):c.227G>A (p.Gly76Glu)
|
|
|
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)
|
|
|
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser)
|
rs2148048891
|
|
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)
|
|
|
NM_033641.4(COL4A6):c.687+30C>A
|
rs1266730
|
|
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)
|
|
|
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2])
|
rs772506311
|
|