NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)
|
rs1265012285
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)
|
rs371056395
|
0.00009
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)
|
rs141223463
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)
|
rs371045201
|
0.00007
|
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His)
|
rs201577008
|
0.00007
|
NM_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val)
|
rs756474511
|
0.00006
|
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)
|
rs768935165
|
0.00006
|
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)
|
rs148160011
|
0.00006
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln)
|
rs375672575
|
0.00005
|
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp)
|
rs773859296
|
0.00005
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
0.00005
|
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)
|
rs765540111
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)
|
rs371214327
|
0.00004
|
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val)
|
rs767638396
|
0.00004
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val)
|
rs777647740
|
0.00004
|
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser)
|
rs373590049
|
0.00004
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp)
|
rs766797299
|
0.00004
|
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)
|
rs371832808
|
0.00004
|
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)
|
rs771308672
|
0.00004
|
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser)
|
rs745448272
|
0.00004
|
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr)
|
rs372988818
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)
|
rs768170991
|
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_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr)
|
rs776672640
|
0.00003
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
0.00003
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr)
|
rs374722116
|
0.00003
|
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu)
|
rs1368858108
|
0.00003
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
NM_016169.4(SUFU):c.109A>G (p.Ile37Val)
|
rs745793517
|
0.00003
|
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)
|
rs142672533
|
0.00003
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)
|
rs761795291
|
0.00002
|
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)
|
rs145384260
|
0.00002
|
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg)
|
rs771925230
|
0.00002
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)
|
rs1050237
|
0.00002
|
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn)
|
rs772752194
|
0.00002
|
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met)
|
rs766237791
|
0.00002
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val)
|
rs148115492
|
0.00002
|
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu)
|
rs778071122
|
0.00002
|
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met)
|
rs768522438
|
0.00002
|
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)
|
rs775843321
|
0.00002
|
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu)
|
rs775997908
|
0.00002
|
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys)
|
rs925142025
|
0.00002
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
|
rs771305734
|
0.00002
|
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)
|
rs771255988
|
0.00002
|
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)
|
rs770246373
|
0.00002
|
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)
|
rs376797758
|
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_000268.4(NF2):c.1174G>A (p.Glu392Lys)
|
rs1026724985
|
0.00001
|
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly)
|
rs74315504
|
0.00001
|
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys)
|
rs1294032875
|
0.00001
|
NM_000268.4(NF2):c.1446G>A (p.Pro482=)
|
rs753751373
|
0.00001
|
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr)
|
rs917012886
|
0.00001
|
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys)
|
rs1240469044
|
0.00001
|
NM_000268.4(NF2):c.347A>G (p.His116Arg)
|
rs371373672
|
0.00001
|
NM_000268.4(NF2):c.595G>A (p.Ala199Thr)
|
rs1261707371
|
0.00001
|
NM_000268.4(NF2):c.713C>T (p.Ala238Val)
|
rs761195572
|
0.00001
|
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)
|
rs765058736
|
0.00001
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)
|
rs1018881303
|
0.00001
|
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)
|
rs749533909
|
0.00001
|
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)
|
rs587778680
|
0.00001
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln)
|
rs1060502059
|
0.00001
|
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg)
|
rs1291938544
|
0.00001
|
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg)
|
rs140176945
|
0.00001
|
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg)
|
rs1288014090
|
0.00001
|
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val)
|
rs1221798183
|
0.00001
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys)
|
rs587778681
|
0.00001
|
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His)
|
rs377573682
|
0.00001
|
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His)
|
rs1389184364
|
0.00001
|
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp)
|
rs1303089960
|
0.00001
|
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met)
|
rs1568565611
|
0.00001
|
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln)
|
rs1484835507
|
0.00001
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu)
|
rs756255060
|
0.00001
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+5G>A
|
rs534705500
|
0.00001
|
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys)
|
rs776222414
|
0.00001
|
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln)
|
rs769756381
|
0.00001
|
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)
|
rs769414440
|
0.00001
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
0.00001
|
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val)
|
rs763054014
|
0.00001
|
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser)
|
rs1304026031
|
0.00001
|
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu)
|
rs910095001
|
0.00001
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys)
|
rs754993965
|
0.00001
|
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met)
|
rs766200637
|
0.00001
|
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)
|
rs746301638
|
0.00001
|
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu)
|
rs376181802
|
0.00001
|
NM_003079.5(SMARCE1):c.238-15T>A
|
rs766494520
|
0.00001
|
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val)
|
rs765003978
|
0.00001
|
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr)
|
rs1395650269
|
0.00001
|
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val)
|
rs768536854
|
0.00001
|
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser)
|
rs1176390337
|
0.00001
|
NM_003977.4(AIP):c.115C>T (p.Arg39Trp)
|
rs781366620
|
0.00001
|
NM_003977.4(AIP):c.140G>A (p.Gly47Asp)
|
rs1164577485
|
0.00001
|
NM_003977.4(AIP):c.160C>T (p.Arg54Trp)
|
rs752553438
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)
|
rs751728820
|
0.00001
|
NM_016169.4(SUFU):c.107C>T (p.Ala36Val)
|
rs566714720
|
0.00001
|
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)
|
rs755390277
|
0.00001
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)
|
rs766370528
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)
|
rs948353979
|
0.00001
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)
|
rs1590019047
|
0.00001
|
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)
|
rs544734275
|
0.00001
|
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)
|
rs761003435
|
0.00001
|
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)
|
rs141737156
|
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_000268.4(NF2):c.1000A>G (p.Met334Val)
|
rs1556000094
|
|
NM_000268.4(NF2):c.114+4A>G
|
rs1207246677
|
|
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
|
|
|
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
|
rs766974263
|
|
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
|
|
|
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
|
|
|
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)
|
rs1569309694
|
|
NM_000268.4(NF2):c.1575-24T>A
|
|
|
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
|
|
|
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
|
|
|
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
|
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
|
rs547255779
|
|
NM_000268.4(NF2):c.345A>T (p.Gln115His)
|
rs746369012
|
|
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
|
|
|
NM_000268.4(NF2):c.391A>C (p.Ile131Leu)
|
rs878853927
|
|
NM_000268.4(NF2):c.447+166T>G
|
|
|
NM_000268.4(NF2):c.463C>G (p.Pro155Ala)
|
rs2066246942
|
|
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
|
|
|
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
|
rs1325902176
|
|
NM_000268.4(NF2):c.593G>A (p.Arg198Gln)
|
rs2146973900
|
|
NM_000268.4(NF2):c.670A>G (p.Ile224Val)
|
rs1555994825
|
|
NM_000268.4(NF2):c.675+172G>T
|
|
|
NM_000268.4(NF2):c.675+182A>G
|
|
|
NM_000268.4(NF2):c.74G>A (p.Arg25Lys)
|
rs1569259813
|
|
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
|
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro)
|
rs1599929325
|
|
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)
|
rs1555750818
|
|
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)
|
rs1060502081
|
|
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile)
|
rs765325777
|
|
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)
|
rs375812959
|
|
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr)
|
rs2086530559
|
|
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met)
|
rs1265247876
|
|
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
|
|
|
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr)
|
rs1369374541
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
|
|
|
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del)
|
rs1484395538
|
|
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val)
|
rs1600132436
|
|
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile)
|
rs1555768365
|
|
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp)
|
rs772356536
|
|
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
|
|
|
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
|
|
|
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
|
|
|
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
|
|
|
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
|
|
|
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys)
|
rs779627018
|
|
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile)
|
rs1568493644
|
|
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)
|
rs1060502074
|
|
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)
|
rs773526113
|
|
NM_003072.5(SMARCA4):c.3216-346C>T
|
|
|
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)
|
rs1568498301
|
|
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr)
|
rs1175163671
|
|
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)
|
rs1555752859
|
|
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)
|
rs1060502060
|
|
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
|
|
|
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
|
|
|
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His)
|
rs2075174391
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys)
|
rs199962502
|
|
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
|
|
|
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys)
|
rs864622722
|
|
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr)
|
rs1377505488
|
|
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His)
|
rs1555795063
|
|
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)
|
rs1600635111
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val)
|
rs2145775018
|
|
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
|
|
|
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro)
|
rs1555796035
|
|
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln)
|
rs878854233
|
|
NM_003072.5(SMARCA4):c.4910_4911+1del
|
rs745740277
|
|
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
|
|
|
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
|
|
|
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val)
|
rs1599951271
|
|
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro)
|
rs1057422480
|
|
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
|
|
|
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)
|
rs769096295
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
|
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)
|
rs1555754225
|
|
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
|
|
|
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)
|
rs199573401
|
|
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu)
|
rs1026742588
|
|
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile)
|
rs748459210
|
|
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)
|
rs762139955
|
|
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=)
|
rs371214843
|
|
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile)
|
rs1568426962
|
|
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
|
|
|
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)
|
rs2143980805
|
|
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del)
|
rs765354113
|
|
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr)
|
rs1597741198
|
|
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
|
|
|
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe)
|
rs2143999589
|
|
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
|
|
|
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys)
|
rs562702157
|
|
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del)
|
rs770456331
|
|
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu)
|
rs201577008
|
|
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg)
|
rs1444576393
|
|
NM_003977.4(AIP):c.136G>A (p.Glu46Lys)
|
rs772580337
|
|
NM_003977.4(AIP):c.151G>A (p.Asp51Asn)
|
rs1591042638
|
|
NM_003977.4(AIP):c.164C>T (p.Ala55Val)
|
rs1865805899
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
NM_003977.4(AIP):c.261G>C (p.Gln87His)
|
rs767982777
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
|
|
|
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
|
|
|
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
|
|
|
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
|
|
|
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
|
|
|
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
|
|
|
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)
|
rs1403040084
|
|
NM_016169.4(SUFU):c.777C>G (p.Ile259Met)
|
rs749533220
|
|
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)
|
rs1363458155
|
|
NM_016169.4(SUFU):c.877A>G (p.Ile293Val)
|
rs574002050
|
|
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
|
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)
|
rs781702725
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
|
|
|
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|