NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)
|
rs267606854
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)
|
rs370907055
|
0.00004
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter)
|
rs909435840
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)
|
rs139956283
|
0.00002
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)
|
rs1060499802
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.415+7A>G
|
rs765884316
|
0.00001
|
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)
|
rs367688416
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter)
|
rs762285081
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)
|
rs876657725
|
0.00001
|
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter)
|
rs755471554
|
0.00001
|
GRCh38/hg38 13q13.1(chr13:32353598-32384308)
|
|
|
NC_000005.10:g.90118339_90119245del
|
|
|
NC_000011.10:g.61969097_61969098insGA
|
|
|
NC_000013.11:g.32315358_32316294del
|
rs2072242904
|
|
NG_008150.2:g.14927_51132dup
|
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.7089+1_7089+38del
|
rs2085827807
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.7007+1G>C
|
rs397507891
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
rs786202344
|
|
NM_000059.4(BRCA2):c.7976+2C>G
|
rs886040943
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000249.4(MLH1):c.1732-264A>T
|
rs2085261656
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800
|
|
NM_000260.4(MYO7A):c.4153-2A>G
|
rs1060499803
|
|
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter)
|
rs2135620605
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs)
|
rs2135785880
|
|
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs)
|
rs2129315801
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)
|
rs2129309208
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000465.4(BARD1):c.1569-12T>G
|
rs879254246
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp)
|
rs201708813
|
|
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)
|
rs1064793959
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del)
|
rs2151043202
|
|
NM_001002295.2(GATA3):c.1050+2T>C
|
rs1832899364
|
|
NM_001002295.2(GATA3):c.393dup (p.Val132fs)
|
|
|
NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs)
|
rs2150914115
|
|
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)
|
rs371412957
|
|
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
|
|
|
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
|
|
|
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)
|
|
|
NM_001127453.2(GSDME):c.991-21TTC[2]
|
rs727505273
|
|
NM_001199799.2(ILDR1):c.294del (p.Val99fs)
|
rs2071591086
|
|
NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter)
|
rs2107644932
|
|
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
|
|
|
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
|
|
|
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
|
|
|
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)
|
|
|
NM_001330368.2(C11orf65):c.640+16147_640+22966del
|
|
|
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del
|
rs483353074
|
|
NM_001384140.1(PCDH15):c.4671+1217C>T
|
rs1056396947
|
|
NM_001384140.1(PCDH15):c.4671+1349_4671+1353dup
|
|
|
NM_002700.3(POU4F3):c.54del (p.Glu18fs)
|
rs2126960889
|
|
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter)
|
rs2126961780
|
|
NM_002878.4(RAD51D):c.738+402_*1465del
|
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004100.5(EYA4):c.992dup (p.Ser331fs)
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter)
|
rs1946605498
|
|
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
|
|
|
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)
|
rs764153521
|
|
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys)
|
rs121909058
|
|
NM_005450.6(NOG):c.41T>C (p.Leu14Pro)
|
rs1354515769
|
|
NM_005797.4(MPZL2):c.161del (p.Pro54fs)
|
|
|
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
|
|
|
NM_006941.4(SOX10):c.383dup (p.His128fs)
|
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5406+4_5406+7del
|
rs1555575073
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)
|
rs1060499797
|
|
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
|
|
|
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
|
|
|
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
|
|
|
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)
|
rs760866131
|
|
NM_021830.5(TWNK):c.333del (p.Leu112fs)
|
rs886037832
|
|
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs)
|
rs758700198
|
|
NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs)
|
rs2133499883
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs)
|
rs2148538836
|
|
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)
|
rs1603323174
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_138691.3(TMC1):c.1184del (p.Gln395fs)
|
rs2118181420
|
|
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)
|
rs2141700836
|
|
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
|
|
|
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
|
|
|
NM_173477.5(USH1G):c.85dup (p.Asp29fs)
|
|
|
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)
|
rs104893651
|
|
NM_181458.4(PAX3):c.812G>A (p.Arg271His)
|
rs774528745
|
|
NM_182548.4(LHFPL5):c.*16+1G>A
|
rs1445573930
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)
|
rs1060499805
|
|
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)
|
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
NM_206933.4(USH2A):c.9699del (p.His3234fs)
|
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|