NM_001017420.3(ESCO2):c.*76_*79dup
|
rs139887923
|
0.15273
|
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)
|
rs143539004
|
0.00080
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)
|
rs143346057
|
0.00067
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu)
|
rs202084183
|
0.00034
|
NM_001017420.3(ESCO2):c.*172G>C
|
rs539459940
|
0.00028
|
NM_001017420.3(ESCO2):c.*915A>G
|
rs867627204
|
0.00024
|
NM_001017420.3(ESCO2):c.*697G>C
|
rs1016816951
|
0.00018
|
NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser)
|
rs138646734
|
0.00016
|
NM_001017420.3(ESCO2):c.-17+15A>T
|
rs886062857
|
0.00012
|
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr)
|
rs143530690
|
0.00012
|
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)
|
rs199653554
|
0.00011
|
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)
|
rs557813179
|
0.00010
|
NM_001017420.3(ESCO2):c.*770A>C
|
rs773539224
|
0.00008
|
NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val)
|
rs201354290
|
0.00008
|
NM_001017420.3(ESCO2):c.*50T>C
|
rs757615491
|
0.00005
|
NM_001017420.3(ESCO2):c.*534C>T
|
rs886062871
|
0.00004
|
NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile)
|
rs199665460
|
0.00004
|
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)
|
rs750159862
|
0.00004
|
NM_001017420.3(ESCO2):c.*222T>C
|
rs886062868
|
0.00003
|
NM_001017420.3(ESCO2):c.*261T>A
|
rs886062869
|
0.00002
|
NM_001017420.3(ESCO2):c.*538A>G
|
rs1472702455
|
0.00002
|
NM_001017420.3(ESCO2):c.447A>G (p.Gln149=)
|
rs886062858
|
0.00002
|
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=)
|
rs587783623
|
0.00001
|
NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys)
|
rs199638838
|
0.00001
|
NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln)
|
rs754433579
|
0.00001
|
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)
|
rs535236969
|
0.00001
|
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=)
|
rs184200865
|
0.00001
|
NM_001017420.3(ESCO2):c.*112AC[10]
|
rs56062620
|
|
NM_001017420.3(ESCO2):c.*112AC[11]
|
rs56062620
|
|
NM_001017420.3(ESCO2):c.*112AC[12]
|
rs56062620
|
|
NM_001017420.3(ESCO2):c.*112AC[14]
|
rs56062620
|
|
NM_001017420.3(ESCO2):c.*112AC[6]
|
rs56062620
|
|
NM_001017420.3(ESCO2):c.*112AC[7]
|
rs56062620
|
|
NM_001017420.3(ESCO2):c.*130delinsACACACACACA
|
rs869163244
|
|
NM_001017420.3(ESCO2):c.*1397T>A
|
rs1805526154
|
|
NM_001017420.3(ESCO2):c.*155T>G
|
rs886062867
|
|
NM_001017420.3(ESCO2):c.*266C>T
|
rs1805505685
|
|
NM_001017420.3(ESCO2):c.*481dup
|
rs111395487
|
|
NM_001017420.3(ESCO2):c.*503GT[1]
|
rs374900624
|
|
NM_001017420.3(ESCO2):c.*73_*76del
|
rs533417099
|
|
NM_001017420.3(ESCO2):c.*80del
|
rs886062863
|
|
NM_001017420.3(ESCO2):c.*982T>C
|
rs886062872
|
|
NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del)
|
rs80359859
|
|
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=)
|
rs140062105
|
|
NM_001017420.3(ESCO2):c.402G>A (p.Lys134=)
|
rs1804800125
|
|
NM_001017420.3(ESCO2):c.53+8T>G
|
rs1804771076
|
|
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=)
|
rs587783624
|
|
NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala)
|
rs1804808385
|
|
NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly)
|
rs886062859
|
|
NM_001017420.3(ESCO2):c.955+10A>G
|
rs1421884058
|
|
NM_001017420.3(ESCO2):c.955+7_955+8del
|
rs555057427
|
|