NM_001171613.2(PREPL):c.1828-29A>G
|
rs2241871
|
0.68299
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NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys)
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rs149012504
|
0.00562
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NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg)
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rs138348037
|
0.00049
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NM_001171613.2(PREPL):c.1791T>C (p.Pro597=)
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rs189954086
|
0.00021
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NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val)
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rs150477781
|
0.00014
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NM_001171613.2(PREPL):c.1906C>T (p.Leu636=)
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rs147585967
|
0.00013
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NM_001171613.2(PREPL):c.1868T>A (p.Leu623His)
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rs746165384
|
0.00009
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NM_001171613.2(PREPL):c.1887C>T (p.Phe629=)
|
rs368734097
|
0.00009
|
NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe)
|
rs200605467
|
0.00008
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NM_001171613.2(PREPL):c.1827+15C>T
|
rs376714746
|
0.00007
|
NM_001171613.2(PREPL):c.1806A>G (p.Val602=)
|
rs771937635
|
0.00006
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NM_001171613.2(PREPL):c.1828-17T>A
|
rs746448655
|
0.00005
|
NM_001171613.2(PREPL):c.1757A>G (p.Tyr586Cys)
|
rs142051325
|
0.00004
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NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg)
|
rs779401831
|
0.00003
|
NM_001171613.2(PREPL):c.1797C>T (p.Gly599=)
|
rs1481266767
|
0.00003
|
NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe)
|
rs751603399
|
0.00003
|
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=)
|
rs375511535
|
0.00002
|
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys)
|
rs892455452
|
0.00002
|
NM_001171613.2(PREPL):c.1754-20C>T
|
rs1192640537
|
0.00001
|
NM_001171613.2(PREPL):c.1796G>A (p.Gly599Asp)
|
rs537911061
|
0.00001
|
NM_001171613.2(PREPL):c.1808T>C (p.Ile603Thr)
|
rs748104886
|
0.00001
|
NM_001171613.2(PREPL):c.1827+9T>C
|
rs748870270
|
0.00001
|
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=)
|
rs1359281085
|
0.00001
|
NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg)
|
rs1310992094
|
0.00001
|
GRCh37/hg19 2p21(chr2:44494834-44571747)
|
|
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NC_000002.11:g.(?_44507855)_(44549039_?)del
|
|
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NC_000002.11:g.(?_44527090)_(44556271_?)del
|
|
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NC_000002.11:g.(?_44547318)_(44556271_?)del
|
|
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NC_000002.11:g.(?_44547318)_(44569711_?)del
|
|
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NC_000002.11:g.(?_44547318)_(44586854_?)dup
|
|
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NC_000002.12:g.(?_44280696)_(44346410_?)del
|
|
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NC_000002.12:g.(?_44280716)_(44346390_?)del
|
|
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NC_000002.12:g.(?_44320179)_(44346410_?)del
|
|
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NC_000002.12:g.(?_44321336)_(44346410_?)del
|
|
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NC_000002.12:g.(?_44321336)_(44359735_?)del
|
|
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NM_001171613.2(PREPL):c.1754-7C>T
|
|
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NM_001171613.2(PREPL):c.1763C>G (p.Thr588Ser)
|
rs1672994938
|
|
NM_001171613.2(PREPL):c.1771ATT[1] (p.Ile592del)
|
rs777599665
|
|
NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)
|
|
|
NM_001171613.2(PREPL):c.1792G>C (p.Gly598Arg)
|
rs1672990690
|
|
NM_001171613.2(PREPL):c.1798A>C (p.Asn600His)
|
rs770897811
|
|
NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)
|
|
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NM_001171613.2(PREPL):c.1803T>C (p.His601=)
|
|
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NM_001171613.2(PREPL):c.1815T>G (p.Asp605Glu)
|
rs2103667636
|
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NM_001171613.2(PREPL):c.1827+10C>G
|
rs1295732711
|
|
NM_001171613.2(PREPL):c.1827+11A>T
|
|
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NM_001171613.2(PREPL):c.1827+16C>T
|
|
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NM_001171613.2(PREPL):c.1827+3A>G
|
rs1228947728
|
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NM_001171613.2(PREPL):c.1827+5G>A
|
rs1672986669
|
|
NM_001171613.2(PREPL):c.1827+8A>T
|
|
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NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
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|
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NM_001171613.2(PREPL):c.1828-13G>A
|
|
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NM_001171613.2(PREPL):c.1828-14T>C
|
|
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NM_001171613.2(PREPL):c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG
|
|
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NM_001171613.2(PREPL):c.1828-7C>A
|
rs781459763
|
|
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His)
|
rs574404474
|
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NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
|
|
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NM_001171613.2(PREPL):c.1839A>T (p.Gln613His)
|
rs574404474
|
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NM_001171613.2(PREPL):c.1848C>T (p.Phe616=)
|
rs776568419
|
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NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro)
|
rs537620020
|
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NM_001171613.2(PREPL):c.1851G>C (p.Leu617=)
|
rs771707341
|
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NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
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|
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NM_001171613.2(PREPL):c.1870G>C (p.Asp624His)
|
rs969589260
|
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NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe)
|
rs1433913896
|
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NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter)
|
rs759556547
|
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NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)
|
|
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