NM_001375380.1(EBF3):c.1342G>A (p.Val448Met)
|
rs773093643
|
0.00001
|
NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)
|
rs1850109343
|
0.00001
|
NM_001375380.1(EBF3):c.1372+3A>G
|
rs779628419
|
0.00001
|
NM_001375380.1(EBF3):c.220C>T (p.Leu74Phe)
|
rs1251711247
|
0.00001
|
NM_001375380.1(EBF3):c.856G>A (p.Asp286Asn)
|
rs774203238
|
0.00001
|
NC_000010.10:g.(131676114_131755521)_(131762539_?)del
|
|
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NM_001375380.1(EBF3):c.1128+1G>C
|
rs797046136
|
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NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)
|
rs1268207836
|
|
NM_001375380.1(EBF3):c.1185_1186del (p.His395fs)
|
|
|
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)
|
rs1564816319
|
|
NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)
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|
|
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)
|
rs1259041590
|
|
NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)
|
|
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NM_001375380.1(EBF3):c.1454_1455del (p.Thr485fs)
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|
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NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter)
|
rs1589974634
|
|
NM_001375380.1(EBF3):c.1873C>T (p.Leu625=)
|
|
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NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)
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|
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NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)
|
rs2134659512
|
|
NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)
|
rs2134659487
|
|
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp)
|
rs1057519518
|
|
NM_001375380.1(EBF3):c.239dup (p.Pro81fs)
|
rs2134659091
|
|
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)
|
rs1057519521
|
|
NM_001375380.1(EBF3):c.291+2del
|
rs1859684125
|
|
NM_001375380.1(EBF3):c.301A>G (p.Asn101Asp)
|
|
|
NM_001375380.1(EBF3):c.326A>C (p.His109Pro)
|
rs1484783852
|
|
NM_001375380.1(EBF3):c.356-4G>C
|
|
|
NM_001375380.1(EBF3):c.370C>A (p.Gln124Lys)
|
|
|
NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn)
|
rs2134649012
|
|
NM_001375380.1(EBF3):c.412-2A>T
|
rs1859264278
|
|
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)
|
rs1057519519
|
|
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)
|
rs1589962586
|
|
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)
|
rs2134623972
|
|
NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)
|
|
|
NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro)
|
rs1564927062
|
|
NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)
|
rs1859258788
|
|
NM_001375380.1(EBF3):c.486-10T>G
|
rs2134611078
|
|
NM_001375380.1(EBF3):c.486-12A>G
|
|
|
NM_001375380.1(EBF3):c.486-1G>A
|
rs1131692258
|
|
NM_001375380.1(EBF3):c.487C>G (p.Arg163Gly)
|
rs1057519092
|
|
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)
|
rs1057519092
|
|
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro)
|
rs1057519389
|
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NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser)
|
rs2134610864
|
|
NM_001375380.1(EBF3):c.505A>G (p.Ser169Gly)
|
rs2134610777
|
|
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)
|
rs1057519437
|
|
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)
|
rs869312668
|
|
NM_001375380.1(EBF3):c.548_551del (p.Ile183fs)
|
rs2134610480
|
|
NM_001375380.1(EBF3):c.554+5G>A
|
rs2134610433
|
|
NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys)
|
rs1554934855
|
|
NM_001375380.1(EBF3):c.554G>C (p.Arg185Thr)
|
|
|
NM_001375380.1(EBF3):c.574_576del (p.Leu192del)
|
rs2134129924
|
|
NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn)
|
rs1057519520
|
|
NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp)
|
rs2134129845
|
|
NM_001375380.1(EBF3):c.593G>A (p.Cys198Tyr)
|
rs1554904330
|
|
NM_001375380.1(EBF3):c.612C>A (p.Asn204Lys)
|
|
|
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)
|
rs1057519522
|
|
NM_001375380.1(EBF3):c.622dup (p.Met208fs)
|
rs2134129705
|
|
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)
|
rs779003155
|
|
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)
|
rs1131692261
|
|
NM_001375380.1(EBF3):c.631T>C (p.Phe211Leu)
|
rs2134129636
|
|
NM_001375380.1(EBF3):c.636+1G>A
|
rs1589767274
|
|
NM_001375380.1(EBF3):c.656T>C (p.Val219Ala)
|
rs1852554969
|
|
NM_001375380.1(EBF3):c.663_685del (p.Asp222fs)
|
|
|
NM_001375380.1(EBF3):c.66C>G (p.Ser22Arg)
|
|
|
NM_001375380.1(EBF3):c.701T>C (p.Val234Ala)
|
|
|
NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del)
|
rs2134108087
|
|
NM_001375380.1(EBF3):c.737G>A (p.Arg246His)
|
|
|
NM_001375380.1(EBF3):c.828G>A (p.Thr276=)
|
|
|
NM_001375380.1(EBF3):c.82C>A (p.Arg28Ser)
|
rs747420051
|
|
NM_001375380.1(EBF3):c.833del (p.Gly278fs)
|
rs1589745620
|
|
NM_001375380.1(EBF3):c.833dup (p.Ala279fs)
|
rs1589745620
|
|
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter)
|
rs1064796669
|
|
NM_001375380.1(EBF3):c.947C>T (p.Pro316Leu)
|
|
|
NM_001375380.1(EBF3):c.947dup (p.Pro317fs)
|
|
|
NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)
|
|
|
NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)
|
|
|