NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00005
|
NM_000501.4(ELN):c.2032+1G>A
|
rs781859711
|
0.00001
|
ELN, 1-BP DEL, 2159C
|
|
|
ELN, 100-KB DEL
|
|
|
ELN, 25-BP DEL, NT2114
|
|
|
ELN, EX9-33DUP
|
|
|
NC_000007.13:g.(?_73442119)_(73484237_?)del
|
|
|
NC_000007.13:g.(?_73442498)_(73483050_?)del
|
|
|
NC_000007.13:g.(?_73442518)_(73449764_?)del
|
|
|
NC_000007.13:g.(?_73442518)_(73483030_?)del
|
|
|
NC_000007.13:g.(?_73461985)_(73483030_?)del
|
|
|
NC_000007.13:g.(?_73471702)_(73483040_?)del
|
|
|
NC_000007.13:g.(?_73480004)_(73483030_?)del
|
|
|
NC_000007.13:g.(?_73482987)_(73484237_?)del
|
|
|
NC_000007.14:g.(?_74028168)_(74028289_?)del
|
|
|
NC_000007.14:g.(?_74028178)_(74068710_?)del
|
|
|
NC_000007.14:g.(?_74068637)_(74068720_?)del
|
|
|
NC_000007.14:g.74048505del
|
rs1793092853
|
|
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
|
|
|
NM_000501.4(ELN):c.1040del (p.Pro347fs)
|
rs1563826213
|
|
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs)
|
rs2131925210
|
|
NM_000501.4(ELN):c.1097-1G>A
|
rs727503029
|
|
NM_000501.4(ELN):c.1101del (p.Val368fs)
|
rs863223520
|
|
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
|
rs1794880739
|
|
NM_000501.4(ELN):c.1111del (p.Glu371fs)
|
rs2485967112
|
|
NM_000501.4(ELN):c.1113dup (p.Ala372fs)
|
rs730880355
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
NM_000501.4(ELN):c.1155del (p.Arg386fs)
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|
|
NM_000501.4(ELN):c.1161del (p.Gly388fs)
|
rs863223521
|
|
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)
|
rs372889752
|
|
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)
|
rs1795205877
|
|
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer)
|
rs2132059492
|
|
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
|
rs2486021154
|
|
NM_000501.4(ELN):c.1195del (p.Val399fs)
|
rs863223522
|
|
NM_000501.4(ELN):c.1208del (p.Gly403fs)
|
rs727504433
|
|
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
|
rs2486022848
|
|
NM_000501.4(ELN):c.1227del (p.Gly410fs)
|
rs1563836689
|
|
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)
|
rs200862792
|
|
NM_000501.4(ELN):c.1283dup (p.Val429fs)
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|
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NM_000501.4(ELN):c.1292del (p.Gly431fs)
|
rs2486027825
|
|
NM_000501.4(ELN):c.131del (p.Pro44fs)
|
rs727503023
|
|
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)
|
rs137854452
|
|
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)
|
rs2132079396
|
|
NM_000501.4(ELN):c.1393dup (p.Ala465fs)
|
rs2132135741
|
|
NM_000501.4(ELN):c.1422del (p.Pro475fs)
|
|
|
NM_000501.4(ELN):c.1431dup (p.Gly478fs)
|
rs2486276420
|
|
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs)
|
rs2132288547
|
|
NM_000501.4(ELN):c.1482del (p.Val495fs)
|
rs1583959262
|
|
NM_000501.4(ELN):c.1539del (p.Gly514fs)
|
rs2486283813
|
|
NM_000501.4(ELN):c.1618C>G (p.Leu540Val)
|
|
|
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)
|
rs137854453
|
|
NM_000501.4(ELN):c.163+1G>T
|
|
|
NM_000501.4(ELN):c.163+2T>A
|
rs1584494326
|
|
NM_000501.4(ELN):c.163+2T>C
|
rs1584494326
|
|
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
|
rs2486318296
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
NM_000501.4(ELN):c.1679del (p.Pro560fs)
|
rs2132320442
|
|
NM_000501.4(ELN):c.1697del (p.Ala566fs)
|
rs2486321745
|
|
NM_000501.4(ELN):c.1706del (p.Pro569fs)
|
rs2486322571
|
|
NM_000501.4(ELN):c.1716dup (p.Val573fs)
|
rs1554683650
|
|
NM_000501.4(ELN):c.171del (p.Pro58fs)
|
rs1554666513
|
|
NM_000501.4(ELN):c.1728dup (p.Val577fs)
|
rs2132322943
|
|
NM_000501.4(ELN):c.1733del (p.Pro578fs)
|
rs727503782
|
|
NM_000501.4(ELN):c.1737del (p.Phe580fs)
|
rs2486324663
|
|
NM_000501.4(ELN):c.1741_1742delinsCA (p.Gly581Gln)
|
rs2132323982
|
|
NM_000501.4(ELN):c.1744del (p.Ala582fs)
|
rs727503783
|
|
NM_000501.4(ELN):c.1747+48G>T
|
|
|
NM_000501.4(ELN):c.1748del (p.Val583fs)
|
rs2486383085
|
|
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)
|
rs727503033
|
|
NM_000501.4(ELN):c.1817del (p.Leu606fs)
|
rs1797063858
|
|
NM_000501.4(ELN):c.1858+5G>C
|
rs1554686162
|
|
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)
|
rs727503034
|
|
NM_000501.4(ELN):c.1863del (p.Gly622fs)
|
|
|
NM_000501.4(ELN):c.1918+1G>A
|
rs727503035
|
|
NM_000501.4(ELN):c.1928_1952del (p.Gly643fs)
|
rs863223524
|
|
NM_000501.4(ELN):c.192del (p.Lys64fs)
|
rs2484908782
|
|
NM_000501.4(ELN):c.1946del (p.Gly649fs)
|
rs1797225811
|
|
NM_000501.4(ELN):c.1957G>T (p.Gly653Ter)
|
rs782707801
|
|
NM_000501.4(ELN):c.1973del (p.Pro658fs)
|
rs2486562061
|
|
NM_000501.4(ELN):c.1A>G (p.Met1Val)
|
rs2484435508
|
|
NM_000501.4(ELN):c.2058del (p.Gly688fs)
|
rs886039351
|
|
NM_000501.4(ELN):c.26_33del (p.Pro9fs)
|
|
|
NM_000501.4(ELN):c.278del (p.Pro93fs)
|
rs1791508570
|
|
NM_000501.4(ELN):c.279del (p.Gly94fs)
|
|
|
NM_000501.4(ELN):c.295_296del (p.Ala99fs)
|
rs1554669297
|
|
NM_000501.4(ELN):c.2T>C (p.Met1Thr)
|
rs863223518
|
|
NM_000501.4(ELN):c.348del (p.Gly117fs)
|
rs2131453910
|
|
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
|
rs2485140568
|
|
NM_000501.4(ELN):c.377-2A>G
|
rs1554669770
|
|
NM_000501.4(ELN):c.383del (p.Val128fs)
|
rs1554669800
|
|
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)
|
rs1791626037
|
|
NM_000501.4(ELN):c.401_405del (p.Ala134fs)
|
|
|
NM_000501.4(ELN):c.414dup (p.Gly139fs)
|
rs1791633917
|
|
NM_000501.4(ELN):c.417del (p.Val141fs)
|
rs878854452
|
|
NM_000501.4(ELN):c.420del (p.Val141fs)
|
|
|
NM_000501.4(ELN):c.435del (p.Leu146fs)
|
rs727503024
|
|
NM_000501.4(ELN):c.43dup (p.Leu15fs)
|
rs727503022
|
|
NM_000501.4(ELN):c.448_449dup (p.Pro151fs)
|
|
|
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)
|
rs137854454
|
|
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)
|
rs137854454
|
|
NM_000501.4(ELN):c.477del (p.Phe160fs)
|
rs863223519
|
|
NM_000501.4(ELN):c.526A>T (p.Lys176Ter)
|
rs137854455
|
|
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
|
rs2485343633
|
|
NM_000501.4(ELN):c.582del (p.Phe195fs)
|
rs2131603022
|
|
NM_000501.4(ELN):c.590del (p.Gly197fs)
|
rs863223526
|
|
NM_000501.4(ELN):c.59del (p.Ile20fs)
|
rs2484444517
|
|
NM_000501.4(ELN):c.608del (p.Pro203fs)
|
rs727504581
|
|
NM_000501.4(ELN):c.609del (p.Leu204fs)
|
rs2485385008
|
|
NM_000501.4(ELN):c.611del (p.Leu204fs)
|
rs2485385183
|
|
NM_000501.4(ELN):c.618T>A (p.Tyr206Ter)
|
rs863223513
|
|
NM_000501.4(ELN):c.631C>T (p.Pro211Ser)
|
rs1064793880
|
|
NM_000501.4(ELN):c.634A>T (p.Lys212Ter)
|
rs1554672587
|
|
NM_000501.4(ELN):c.643+1G>A
|
rs1131691482
|
|
NM_000501.4(ELN):c.643+1_643+2delinsAG
|
rs1554672602
|
|
NM_000501.4(ELN):c.656_659dup (p.Tyr221fs)
|
|
|
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)
|
rs1787875866
|
|
NM_000501.4(ELN):c.660del (p.Tyr221fs)
|
rs2485448490
|
|
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
|
rs2485449620
|
|
NM_000501.4(ELN):c.673A>T (p.Lys225Ter)
|
|
|
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)
|
rs1400530335
|
|
NM_000501.4(ELN):c.69del (p.Ser24fs)
|
rs2484445815
|
|
NM_000501.4(ELN):c.728_729del (p.Gly243fs)
|
rs863223527
|
|
NM_000501.4(ELN):c.775del (p.Ala259fs)
|
rs2485518873
|
|
NM_000501.4(ELN):c.786del (p.Ala263fs)
|
rs2485519560
|
|
NM_000501.4(ELN):c.800-1G>A
|
rs2131847938
|
|
NM_000501.4(ELN):c.800-2A>G
|
rs727503027
|
|
NM_000501.4(ELN):c.800-3C>G
|
rs397516433
|
|
NM_000501.4(ELN):c.82+1G>A
|
rs2130830261
|
|
NM_000501.4(ELN):c.82+1G>C
|
rs2130830261
|
|
NM_000501.4(ELN):c.82+2T>A
|
|
|
NM_000501.4(ELN):c.832G>T (p.Gly278Ter)
|
|
|
NM_000501.4(ELN):c.840_843dup (p.Val282fs)
|
rs1794096639
|
|
NM_000501.4(ELN):c.848dup (p.Gly284fs)
|
rs863223528
|
|
NM_000501.4(ELN):c.862dup (p.Ala288fs)
|
rs727503028
|
|
NM_000501.4(ELN):c.869del (p.Pro290fs)
|
rs1794104889
|
|
NM_000501.4(ELN):c.885del (p.Ile295fs)
|
rs1794108907
|
|
NM_000501.4(ELN):c.889+2T>C
|
rs727504419
|
|
NM_000501.4(ELN):c.890-1G>A
|
rs1794129841
|
|
NM_000501.4(ELN):c.890-2A>G
|
rs727504434
|
|
NM_000501.4(ELN):c.8del (p.Gly3fs)
|
rs2130826217
|
|
NM_000501.4(ELN):c.909_916del (p.Ala304fs)
|
rs2131856285
|
|
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs)
|
rs886044834
|
|
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)
|
rs1554676454
|
|
NM_000501.4(ELN):c.944dup (p.Tyr316fs)
|
|
|
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)
|
rs2131858633
|
|
NM_000501.4(ELN):c.94del (p.Ala32fs)
|
rs2484780987
|
|
NM_000501.4(ELN):c.956_957dup (p.Ala320fs)
|
rs1794472287
|
|
NM_000501.4(ELN):c.96del (p.Ile33fs)
|
rs2131151265
|
|
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]
|
|
|