NM_000057.4(BLM):c.3210+2del
|
rs587779886
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0.00003
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
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rs754203833
|
0.00001
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
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rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
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rs148394770
|
0.00001
|
NM_000057.4(BLM):c.2823+2T>A
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rs1896712920
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
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rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
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rs1057517154
|
0.00001
|
GRCh37/hg19 16p12.2(chr16:21943463-22702769)
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GRCh37/hg19 16p12.2(chr16:21973828-22361172)
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GRCh37/hg19 2q37.3(chr2:238795602-242918203)
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NM_000057.4(BLM):c.1087+1G>A
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rs1179486581
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NM_000057.4(BLM):c.1087+1G>T
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NM_000057.4(BLM):c.1088-1G>A
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rs1555419696
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NM_000057.4(BLM):c.1220+1G>T
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NM_000057.4(BLM):c.1221-2A>C
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rs1555419779
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NM_000057.4(BLM):c.1399dup (p.Asp467fs)
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rs1555419862
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NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
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NM_000057.4(BLM):c.1487del (p.Leu496fs)
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rs2151158316
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NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
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NM_000057.4(BLM):c.1622del (p.Asn541fs)
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NM_000057.4(BLM):c.1882+2T>C
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NM_000057.4(BLM):c.1953_1956del (p.His651fs)
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NM_000057.4(BLM):c.2023dup (p.Ala675fs)
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NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
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NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
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NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
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|
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NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
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NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
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NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
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NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
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NM_000057.4(BLM):c.2407-2A>G
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|
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NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
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NM_000057.4(BLM):c.2516del (p.Lys839fs)
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|
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NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)
|
rs767086502
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NM_000057.4(BLM):c.2555+1G>A
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NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
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NM_000057.4(BLM):c.2603del (p.Pro868fs)
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|
|
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
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|
|
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
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|
|
NM_000057.4(BLM):c.2662+2T>G
|
rs1567052324
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NM_000057.4(BLM):c.2677dup (p.Ile893fs)
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|
|
NM_000057.4(BLM):c.2756del (p.His919fs)
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|
|
NM_000057.4(BLM):c.3210+1G>A
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|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
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NM_000057.4(BLM):c.3265del (p.Gln1089fs)
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NM_000057.4(BLM):c.3358+1G>A
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NM_000057.4(BLM):c.3358+1G>T
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NM_000057.4(BLM):c.3359-1G>A
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NM_000057.4(BLM):c.3359-2A>G
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NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
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NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
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|
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NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
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NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
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|
|
NM_000057.4(BLM):c.3874+2T>C
|
rs1555424890
|
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NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
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|
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NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
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|
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NM_000057.4(BLM):c.516del (p.Gln174fs)
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|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
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|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
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NM_000057.4(BLM):c.746del (p.Asn249fs)
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|
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NM_000057.4(BLM):c.75_78del (p.Leu25fs)
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|
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NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
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|
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NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
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NM_000057.4(BLM):c.8_9dup (p.Val4fs)
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|
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NM_000057.4(BLM):c.960-1G>A
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rs1596223715
|
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NM_000057.4(BLM):c.960-2A>C
|
rs1286600850
|
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NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000612.6(IGF2):c.106del (p.Glu36fs)
|
|
|
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)
|
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
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|
|
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)
|
rs2073302769
|
|
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
|
|
|
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val)
|
rs1688103803
|
|
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
|
|
|
NM_001379200.1(TBX1):c.437+1G>C
|
|
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NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
|
|
|
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
|
|
|
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
|
|
|
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
|
|
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