NM_005267.5(GJA8):c.741T>G (p.Ile247Met)
|
rs80358202
|
0.00365
|
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)
|
rs185805779
|
0.00023
|
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)
|
rs140159323
|
0.00019
|
NM_001491.3(GCNT2):c.60del (p.Ile20fs)
|
rs1184095219
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp)
|
rs370424081
|
0.00010
|
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)
|
rs148284531
|
0.00009
|
NM_000496.3(CRYBB2):c.471C>T (p.Pro157=)
|
rs745938679
|
0.00005
|
NM_018238.4(AGK):c.297+2T>C
|
rs765471424
|
0.00005
|
NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu)
|
rs56141211
|
0.00005
|
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys)
|
rs397515623
|
0.00003
|
NM_002340.6(LSS):c.1025T>G (p.Ile342Ser)
|
rs749141857
|
0.00003
|
NM_003380.5(VIM):c.451G>A (p.Glu151Lys)
|
rs121917775
|
0.00003
|
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)
|
rs143064649
|
0.00003
|
NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys)
|
rs1057518738
|
0.00003
|
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)
|
rs772357412
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)
|
rs771945804
|
0.00002
|
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter)
|
rs387906964
|
0.00002
|
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)
|
rs55940927
|
0.00002
|
NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys)
|
rs74315441
|
0.00001
|
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)
|
rs397515626
|
0.00001
|
NM_001161748.2(LIM2):c.313T>G (p.Phe105Val)
|
rs121913555
|
0.00001
|
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)
|
rs1246080692
|
0.00001
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs)
|
rs949335475
|
0.00001
|
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)
|
rs561449819
|
0.00001
|
NM_002340.6(LSS):c.1887G>T (p.Trp629Cys)
|
rs764098604
|
0.00001
|
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)
|
rs104893685
|
0.00001
|
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)
|
rs1203386884
|
0.00001
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)
|
rs864309688
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)
|
rs747658523
|
0.00001
|
NM_015073.3(SIPA1L3):c.4489C>T (p.Arg1497Ter)
|
rs756898971
|
0.00001
|
NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter)
|
rs1564745688
|
0.00001
|
NM_018216.4(PANK4):c.607-53G>A
|
rs575200084
|
0.00001
|
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)
|
rs746709222
|
0.00001
|
NM_018238.4(AGK):c.412C>T (p.Arg138Ter)
|
rs1199705359
|
0.00001
|
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)
|
rs768945306
|
0.00001
|
NM_024513.4(FYCO1):c.3150+1G>T
|
rs766522434
|
0.00001
|
46;XY;inv(9)(q22.3q34.11)dn
|
|
|
NC_000001.10:g.(?_146714354)_(147381384_?)del
|
|
|
NC_000001.10:g.(?_147380063)_(147381404_?)del
|
|
|
NC_000001.10:g.(?_16451710)_(16532835_?)del
|
|
|
NC_000005.10:g.139189727_139201554del
|
|
|
NC_000006.11:g.(?_10556657)_(10626840_?)del
|
|
|
NC_000006.12:g.(?_10528892)_(10557362_?)del
|
|
|
NC_000006.12:g.(?_10556404)_(10626627_?)del
|
|
|
NC_000007.13:g.(?_141255267)_(141301100_?)del
|
|
|
NC_000007.13:g.(?_141292926)_(141293005_?)del
|
|
|
NC_000016.10:g.(?_78278583)_(80589366_?)del
|
|
|
NC_000016.10:g.(?_79594440)_(79599922_?)del
|
|
|
NC_000016.9:g.(?_65821800)_(67208957_?)del
|
|
|
NHS, 500-KB TRIPLICATION
|
|
|
NM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)
|
|
|
NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg)
|
rs398122947
|
|
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)
|
rs74315439
|
|
NM_000394.4(CRYAA):c.347G>A (p.Arg116His)
|
rs121912973
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)
|
rs397515625
|
|
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg)
|
rs864309698
|
|
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)
|
rs74315489
|
|
NM_000496.3(CRYBB2):c.470C>T (p.Pro157Leu)
|
|
|
NM_000496.3(CRYBB2):c.563G>A (p.Arg188His)
|
rs886041410
|
|
NM_000539.3(RHO):c.891C>G (p.Ser297Arg)
|
rs142285818
|
|
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)
|
rs1568480054
|
|
NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu)
|
rs869312732
|
|
NM_001195.5(BFSP1):c.1042+3A>G
|
rs1085307127
|
|
NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)
|
rs1085307126
|
|
NM_001195.5(BFSP1):c.736-1384_957-66del
|
|
|
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)
|
|
|
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)
|
rs387907336
|
|
NM_001289808.2(CRYAB):c.450del (p.Lys150fs)
|
rs1566402656
|
|
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)
|
rs387907337
|
|
NM_001291867.2(NHS):c.566-154020_566-149209del
|
|
|
NM_001291867.2(NHS):c.853-2A>C
|
|
|
NM_001366145.2(TRPM3):c.195A>G (p.Ile65Met)
|
|
|
NM_001374675.1(HSF4):c.256A>G (p.Ile86Val)
|
rs121909050
|
|
NM_001374675.1(HSF4):c.341T>C (p.Leu114Pro)
|
rs121909048
|
|
NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)
|
rs28937573
|
|
NM_001374675.1(HSF4):c.392G>A (p.Trp131Ter)
|
rs2145920428
|
|
NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)
|
|
|
NM_001374675.1(HSF4):c.56C>A (p.Ala19Asp)
|
rs121909049
|
|
NM_001374675.1(HSF4):c.627-2A>G
|
|
|
NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)
|
|
|
NM_001374675.1(HSF4):c.89del (p.Asp30fs)
|
rs1555549755
|
|
NM_001374675.1(HSF4):c.965dup (p.Pro323fs)
|
rs776129797
|
|
NM_001491.2(GCNT2):c.-117_*41del
|
|
|
NM_001491.3(GCNT2):c.760del (p.His254fs)
|
|
|
NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp)
|
rs1114167427
|
|
NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro)
|
rs74315487
|
|
NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser)
|
rs74315486
|
|
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)
|
rs1064793935
|
|
NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg)
|
rs1114167433
|
|
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs)
|
rs1569203234
|
|
NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter)
|
rs74315488
|
|
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg)
|
rs1114167432
|
|
NM_002340.6(LSS):c.1741T>C (p.Trp581Arg)
|
rs864622780
|
|
NM_003380.5(VIM):c.15del (p.Val6fs)
|
rs864309690
|
|
NM_003380.5(VIM):c.623A>G (p.Gln208Arg)
|
rs1085307141
|
|
NM_003571.4(BFSP2):c.166del (p.Val56fs)
|
rs1576552712
|
|
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)
|
|
|
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)
|
rs121908938
|
|
NM_004076.4(CRYBB3):c.[493G>C];[493G>C]
|
rs74315490
|
|
NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu)
|
|
|
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu)
|
rs587777601
|
|
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)
|
|
|
NM_004431.5(EPHA2):c.2815_2825+9del
|
rs2124192639
|
|
NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile)
|
rs137853200
|
|
NM_004431.5(EPHA2):c.2825+2del
|
|
|
NM_004431.5(EPHA2):c.2826-9G>A
|
rs886041412
|
|
NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp)
|
rs137853199
|
|
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs)
|
rs2024441691
|
|
NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)
|
rs2124283411
|
|
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter)
|
rs1569602837
|
|
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)
|
|
|
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)
|
rs104894175
|
|
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)
|
rs1411557416
|
|
NM_005208.5(CRYBA1):c.215+1G>C
|
rs1264025914
|
|
NM_005208.5(CRYBA1):c.215+1G>T
|
rs1264025914
|
|
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)
|
rs1064797219
|
|
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs)
|
rs1567671947
|
|
NM_005210.4(CRYGB):c.10-38del
|
rs3214759
|
|
NM_005210.4(CRYGB):c.72del (p.Asn25fs)
|
rs387907342
|
|
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
|
|
|
NM_005267.5(GJA8):c.131T>A (p.Val44Glu)
|
rs80358204
|
|
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
|
|
|
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu)
|
rs864309688
|
|
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys)
|
rs983216627
|
|
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg)
|
rs1553242554
|
|
NM_005267.5(GJA8):c.139G>A (p.Asp47Asn)
|
rs121434643
|
|
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys)
|
rs80358201
|
|
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly)
|
rs2149015418
|
|
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)
|
rs864309703
|
|
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu)
|
rs1307969607
|
|
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu)
|
rs1651879427
|
|
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
|
|
|
NM_005267.5(GJA8):c.196T>C (p.Tyr66His)
|
rs1571175950
|
|
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys)
|
rs1651881222
|
|
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
|
|
|
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys)
|
rs1553242577
|
|
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala)
|
rs80358200
|
|
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser)
|
rs80358200
|
|
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)
|
rs782199122
|
|
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu)
|
rs397515627
|
|
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
|
|
|
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)
|
rs80358205
|
|
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser)
|
rs1651918704
|
|
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly)
|
rs1651919374
|
|
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr)
|
rs80358203
|
|
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe)
|
rs45619342
|
|
NM_005267.5(GJA8):c.94T>G (p.Phe32Val)
|
|
|
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)
|
rs1555530022
|
|
NM_005360.5(MAF):c.863G>C (p.Arg288Pro)
|
rs121917735
|
|
NM_005360.5(MAF):c.881G>A (p.Arg294Gln)
|
rs1597847611
|
|
NM_005360.5(MAF):c.890A>G (p.Lys297Arg)
|
rs121917736
|
|
NM_005360.5(MAF):c.895C>A (p.Arg299Ser)
|
rs786205221
|
|
NM_005360.5(MAF):c.895C>T (p.Arg299Cys)
|
rs786205221
|
|
NM_005360.5(MAF):c.908A>C (p.Gln303Pro)
|
rs786205222
|
|
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)
|
rs760337383
|
|
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)
|
rs763677869
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)
|
rs398123066
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
|
rs1730930342
|
|
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser)
|
rs121909597
|
|
NM_006891.4(CRYGD):c.176G>A (p.Arg59His)
|
rs121909596
|
|
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter)
|
rs398122948
|
|
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)
|
rs1337897299
|
|
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)
|
rs121909595
|
|
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter)
|
rs121909598
|
|
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)
|
rs28931605
|
|
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser)
|
rs28931605
|
|
NM_012064.4(MIP):c.401A>G (p.Glu134Gly)
|
rs121917869
|
|
NM_012064.4(MIP):c.413C>G (p.Thr138Arg)
|
rs121917867
|
|
NM_012064.4(MIP):c.508dup (p.Leu170fs)
|
rs1057519616
|
|
NM_012064.4(MIP):c.606+1G>C
|
rs1220143491
|
|
NM_012064.4(MIP):c.606+1G>T
|
|
|
NM_012064.4(MIP):c.616_632del (p.Val206fs)
|
|
|
NM_012064.4(MIP):c.623del (p.Pro208fs)
|
rs1555179713
|
|
NM_012064.4(MIP):c.638del (p.Gly213fs)
|
rs398122378
|
|
NM_012064.4(MIP):c.97C>T (p.Arg33Cys)
|
rs864309693
|
|
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys)
|
rs1057518737
|
|
NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg)
|
rs2124045186
|
|
NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser)
|
rs387906793
|
|
NM_014290.3(TDRD7):c.1129del (p.Ala377fs)
|
rs765628635
|
|
NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del)
|
rs750207077
|
|
NM_014290.3(TDRD7):c.2008C>T (p.Gln670Ter)
|
rs2131165749
|
|
NM_014290.3(TDRD7):c.2660del (p.Lys887fs)
|
|
|
NM_014290.3(TDRD7):c.328dup (p.Thr110fs)
|
rs1554743428
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NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter)
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rs1554744860
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NM_015073.3(SIPA1L3):c.3492dup (p.Gly1165fs)
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rs1568573490
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NM_015221.4(DNMBP):c.2852_2855del (p.Thr951fs)
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rs1564723150
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NM_015221.4(DNMBP):c.2947_2948del (p.Glu982_Asp983insTer)
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rs1564722302
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NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys)
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rs1184398243
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NM_017541.4(CRYGS):c.124G>A (p.Val42Met)
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rs1578956689
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NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)
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|
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NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)
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rs104893736
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NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)
|
rs587783070
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NM_018238.4(AGK):c.1035dup (p.Ile346fs)
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rs1259937492
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NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)
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rs1554405928
|
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NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
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|
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NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
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|
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NM_018238.4(AGK):c.356dup (p.Ile120fs)
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|
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NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
|
|
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NM_018238.4(AGK):c.409del (p.Arg137fs)
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|
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NM_018238.4(AGK):c.424-3C>G
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rs766413410
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NM_018238.4(AGK):c.632G>A (p.Trp211Ter)
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rs2116998520
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NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
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|
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NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs)
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rs1695062782
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NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro)
|
rs104893618
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NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys)
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rs137853924
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NM_020989.4(CRYGC):c.394del (p.Val132fs)
|
rs2105857937
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NM_020989.4(CRYGC):c.423del (p.Arg142fs)
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rs1553585262
|
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NM_020989.4(CRYGC):c.423dup (p.Arg142fs)
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rs1553585262
|
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NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)
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rs398122392
|
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NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter)
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rs398122944
|
|
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)
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rs587778872
|
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NM_021954.4(GJA3):c.1137dup (p.Ser380fs)
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rs1593332981
|
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NM_021954.4(GJA3):c.130G>A (p.Val44Met)
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rs981126461
|
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NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)
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rs864309691
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NM_021954.4(GJA3):c.188A>G (p.Asn63Ser)
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rs121917823
|
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NM_021954.4(GJA3):c.227G>A (p.Arg76His)
|
rs121917827
|
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NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)
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rs398122937
|
|
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu)
|
rs121917825
|
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NM_021954.4(GJA3):c.563A>C (p.Asn188Thr)
|
rs140332366
|
|
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)
|
rs140332366
|
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NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)
|
rs397514703
|
|
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
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|
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NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)
|
rs397514704
|
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NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
|
|
|
NM_021954.4(GJA3):c.82G>A (p.Val28Met)
|
rs1555339539
|
|
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter)
|
rs387906963
|
|
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)
|
rs387906966
|
|
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
|
|
|
NM_024513.4(FYCO1):c.2505del (p.Ala836fs)
|
rs1575369255
|
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NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)
|
|
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NM_024513.4(FYCO1):c.3161del (p.Ala1054fs)
|
rs2125846016
|
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NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter)
|
rs73830668
|
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NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)
|
rs747093432
|
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NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs)
|
rs1240503246
|
|
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs)
|
rs777269054
|
|
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)
|
rs387906965
|
|
NM_024513.4(FYCO1):c.524G>A (p.Trp175Ter)
|
rs2125859216
|
|
NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs)
|
rs2125859204
|
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NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter)
|
rs200679450
|
|
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter)
|
rs2127444957
|
|
NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val)
|
rs118203965
|
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NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys)
|
rs118203966
|
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NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)
|
rs878852983
|
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