NM_007347.5(AP4E1):c.1967-91A>G
|
rs2306335
|
0.79763
|
NM_007347.5(AP4E1):c.542+59G>A
|
rs2306332
|
0.60959
|
NM_007347.5(AP4E1):c.222+48_222+49insT
|
rs3214932
|
0.57174
|
NM_007347.5(AP4E1):c.346+50G>C
|
rs2663553
|
0.57162
|
NM_007347.5(AP4E1):c.222+18G>A
|
rs1147129
|
0.56600
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
NM_007347.5(AP4E1):c.1066+51T>C
|
rs2291107
|
0.20641
|
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)
|
rs3825798
|
0.19899
|
NM_007347.5(AP4E1):c.150+33A>G
|
rs76674534
|
0.16669
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)
|
rs75130619
|
0.01213
|
NM_007347.5(AP4E1):c.542+11T>G
|
rs58882998
|
0.00762
|
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)
|
rs28463775
|
0.00543
|
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
NM_007347.5(AP4E1):c.2346+10C>T
|
rs112190952
|
0.00228
|
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)
|
rs148499164
|
0.00052
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)
|
rs187436884
|
0.00011
|
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)
|
rs150743968
|
0.00005
|
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)
|
rs2064899680
|
0.00001
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
0.00001
|
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
|
|
|
NM_007347.5(AP4E1):c.1316+44_1316+54del
|
rs144809125
|
|
NM_007347.5(AP4E1):c.1317-2A>C
|
rs1567230528
|
|
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)
|
rs2140861877
|
|
NM_007347.5(AP4E1):c.1429+1G>T
|
|
|
NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)
|
|
|
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro)
|
rs1176175925
|
|
NM_007347.5(AP4E1):c.3096-57dup
|
rs3840015
|
|
NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser)
|
rs2063619601
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)
|
rs2063738778
|
|
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln)
|
rs1404968090
|
|
NM_007347.5(AP4E1):c.542+5_542+8del
|
rs2141147450
|
|
NM_007347.5(AP4E1):c.773A>G (p.Lys258Arg)
|
|
|
NM_007347.5(AP4E1):c.942_943+3delinsCC
|
rs2141164878
|
|