|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
|
NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=)
|
rs190197045
|
0.00595
|
|
NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr)
|
rs200391124
|
0.00214
|
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
|
NM_000501.4(ELN):c.381G>A (p.Ala127=)
|
rs148216123
|
0.00019
|
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
|
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)
|
rs372566075
|
0.00011
|
|
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)
|
rs373650953
|
0.00007
|
|
NM_000501.4(ELN):c.1543G>A (p.Val515Met)
|
rs376258672
|
0.00006
|
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
|
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
|
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)
|
rs973649598
|
0.00001
|
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
|
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
|
rs782205353
|
0.00001
|
|
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72589195-74225562)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72589515-74629034)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72645013-74142190)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72700127-74142190)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72700942-74142190)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72700996-74142256)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72701084-74142190)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72717395-74173168)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72718123-74141784)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72718123-74142190)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:72921550-74145628)
|
|
|
|
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
|
|
|
|
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
|
|
|
|
NC_000007.14:g.73304277_74727414del
|
|
|
|
NC_000007.14:g.73773313_74086695del
|
|
|
|
NM_000501.3(ELN):c.-70G>C
|
rs537200597
|
|
|
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
|
rs1794880739
|
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
|
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)
|
rs863223529
|
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
|
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter)
|
rs2116378500
|
|
|
Single allele
|
|
|