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.(?_73482987)_(73484237_?)del
|
|
|
NC_000007.14:g.(?_74028168)_(74028289_?)del
|
|
|
NC_000007.14:g.(?_74028178)_(74068710_?)del
|
|
|
NC_000007.14:g.(?_74068637)_(74068720_?)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.1101del (p.Val368fs)
|
rs863223520
|
|
NM_000501.4(ELN):c.1111del (p.Glu371fs)
|
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
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)
|
|
|
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
|
|
|
NM_000501.4(ELN):c.1227del (p.Gly410fs)
|
rs1563836689
|
|
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)
|
rs200862792
|
|
NM_000501.4(ELN):c.1292del (p.Gly431fs)
|
|
|
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.1452_1453insA (p.Val485fs)
|
rs2132288547
|
|
NM_000501.4(ELN):c.1482del (p.Val495fs)
|
rs1583959262
|
|
NM_000501.4(ELN):c.1539del (p.Gly514fs)
|
|
|
NM_000501.4(ELN):c.163+2T>A
|
|
|
NM_000501.4(ELN):c.163+2T>C
|
rs1584494326
|
|
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
|
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
NM_000501.4(ELN):c.1679del (p.Pro560fs)
|
rs2132320442
|
|
NM_000501.4(ELN):c.1706del (p.Pro569fs)
|
|
|
NM_000501.4(ELN):c.171del (p.Pro58fs)
|
rs1554666513
|
|
NM_000501.4(ELN):c.1817del (p.Leu606fs)
|
rs1797063858
|
|
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)
|
rs727503034
|
|
NM_000501.4(ELN):c.192del (p.Lys64fs)
|
|
|
NM_000501.4(ELN):c.1973del (p.Pro658fs)
|
|
|
NM_000501.4(ELN):c.1A>G (p.Met1Val)
|
|
|
NM_000501.4(ELN):c.278del (p.Pro93fs)
|
rs1791508570
|
|
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)
|
|
|
NM_000501.4(ELN):c.377-2A>G
|
|
|
NM_000501.4(ELN):c.383del (p.Val128fs)
|
rs1554669800
|
|
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)
|
rs1791626037
|
|
NM_000501.4(ELN):c.414dup (p.Gly139fs)
|
rs1791633917
|
|
NM_000501.4(ELN):c.417del (p.Val141fs)
|
rs878854452
|
|
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.554_555delinsA (p.Ala185fs)
|
|
|
NM_000501.4(ELN):c.609del (p.Leu204fs)
|
|
|
NM_000501.4(ELN):c.611del (p.Leu204fs)
|
|
|
NM_000501.4(ELN):c.643+1_643+2delinsAG
|
rs1554672602
|
|
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)
|
rs1787875866
|
|
NM_000501.4(ELN):c.660del (p.Tyr221fs)
|
|
|
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
|
|
|
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)
|
rs1400530335
|
|
NM_000501.4(ELN):c.69del (p.Ser24fs)
|
|
|
NM_000501.4(ELN):c.775del (p.Ala259fs)
|
|
|
NM_000501.4(ELN):c.786del (p.Ala263fs)
|
|
|
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.840_843dup (p.Val282fs)
|
rs1794096639
|
|
NM_000501.4(ELN):c.869del (p.Pro290fs)
|
rs1794104889
|
|
NM_000501.4(ELN):c.885del (p.Ile295fs)
|
rs1794108907
|
|
NM_000501.4(ELN):c.8del (p.Gly3fs)
|
rs2130826217
|
|
NM_000501.4(ELN):c.909_916del (p.Ala304fs)
|
rs2131856285
|
|
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)
|
rs1554676454
|
|
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)
|
rs2131858633
|
|
NM_000501.4(ELN):c.94del (p.Ala32fs)
|
|
|
NM_000501.4(ELN):c.96del (p.Ile33fs)
|
rs2131151265
|
|
NM_001278939.1(ELN):c.748del
|
rs1793092853
|
|