NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)
|
rs148832260
|
0.00032
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_014140.4(SMARCAL1):c.863-2A>G
|
rs761546902
|
0.00004
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001126108.2(SLC12A3):c.1180+1G>T
|
rs749098014
|
0.00001
|
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)
|
rs1554728698
|
0.00001
|
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs)
|
rs782152033
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_033380.3(COL4A5):c.2510-2A>G
|
rs760109866
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_000039.3(APOA1):c.532_533dup (p.His179fs)
|
rs781350389
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000091.5(COL4A3):c.1504+1G>A
|
rs1559882199
|
|
NM_000091.5(COL4A3):c.2881+1G>T
|
rs1559899827
|
|
NM_000092.5(COL4A4):c.1623+1G>A
|
rs1559590037
|
|
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)
|
rs757688183
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs)
|
rs1559500363
|
|
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs)
|
rs1559450594
|
|
NM_000092.5(COL4A4):c.4082-1G>T
|
rs1559438651
|
|
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs)
|
rs1559396675
|
|
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter)
|
rs1559395617
|
|
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)
|
rs398123212
|
|
NM_000169.3(GLA):c.730G>C (p.Asp244His)
|
rs727503948
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter)
|
rs886039539
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
NM_000490.5(AVP):c.322+2T>G
|
rs1568733815
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg)
|
rs1563630128
|
|
NM_000503.6(EYA1):c.418+1G>A
|
rs886042006
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)
|
rs1566092307
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys)
|
rs771108132
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter)
|
rs1383556063
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs)
|
rs1567216675
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)
|
rs1567216472
|
|
NM_001009944.3(PKD1):c.1722+1G>A
|
rs1567214706
|
|
NM_001009944.3(PKD1):c.1723-2A>G
|
rs1567214052
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2098-1G>C
|
rs1567211807
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs)
|
rs1567211181
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs)
|
rs1567207841
|
|
NM_001009944.3(PKD1):c.3128del (p.Val1043fs)
|
rs1567206632
|
|
NM_001009944.3(PKD1):c.384del (p.Glu128fs)
|
rs1567219155
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
|
rs942694907
|
|
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs)
|
rs1567195285
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7490-2A>T
|
rs1567185163
|
|
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter)
|
rs1567185138
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs)
|
rs1567177760
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.964_965dup (p.His323fs)
|
rs1567217428
|
|
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)
|
rs1567169638
|
|
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)
|
rs1569083679
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)
|
rs797044811
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
NM_001127898.4(CLCN5):c.415+1G>A
|
rs1569540051
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)
|
rs587777387
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)
|
rs121908849
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)
|
rs121434394
|
|
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys)
|
rs121434395
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_014625.4(NPHS2):c.451+2T>A
|
rs786204708
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter)
|
rs1559056633
|
|
NM_033380.3(COL4A5):c.2395+1G>C
|
rs869025331
|
|
NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys)
|
rs104886196
|
|
NM_033380.3(COL4A5):c.2917+1G>C
|
rs104886371
|
|
NM_033380.3(COL4A5):c.4315+1G>C
|
rs587776403
|
|
NM_033380.3(COL4A5):c.4528+1G>A
|
rs104886413
|
|
NM_033380.3(COL4A5):c.49_50del (p.Leu17fs)
|
rs104886427
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.546+2dup
|
rs1569489353
|
|
NM_033380.3(COL4A5):c.594dup (p.Pro199fs)
|
rs1569489863
|
|
NM_033380.3(COL4A5):c.635del (p.Pro212fs)
|
rs104886065
|
|
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg)
|
rs104886067
|
|
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
|
rs104886074
|
|
NM_144997.7(FLCN):c.583G>T (p.Gly195Ter)
|
rs1567819544
|
|
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys)
|
rs765676223
|
|