NM_001171613.2(PREPL):c.*586A>G
|
rs8886
|
0.63581
|
NM_001171613.2(PREPL):c.*561A>G
|
rs546219789
|
0.00152
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)
|
rs143740561
|
0.00051
|
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)
|
rs200436145
|
0.00039
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)
|
rs146963107
|
0.00004
|
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)
|
rs781253461
|
0.00004
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)
|
rs746978183
|
0.00002
|
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn)
|
rs886056071
|
0.00001
|
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)
|
rs754053965
|
0.00001
|
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)
|
rs777575410
|
0.00001
|
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)
|
rs776729515
|
0.00001
|
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=)
|
rs770801300
|
0.00001
|
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile)
|
rs199685360
|
0.00001
|
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)
|
rs121912696
|
0.00001
|
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)
|
rs763292534
|
0.00001
|
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)
|
rs267599386
|
0.00001
|
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)
|
rs377448239
|
0.00001
|
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)
|
rs1361526419
|
0.00001
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
NM_001171613.2(PREPL):c.*608T>C
|
rs755700908
|
0.00001
|
NM_001171613.2(PREPL):c.*617A>G
|
rs886056074
|
0.00001
|
GRCh37/hg19 2p21(chr2:44494834-44571747)
|
|
|
NC_000002.11:g.(?_44502646)_(44586854_?)del
|
|
|
NC_000002.11:g.(?_44527110)_(44545243_?)dup
|
|
|
NC_000002.11:g.(?_44527110)_(44550550_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44586854_?)del
|
|
|
NC_000002.12:g.(?_44280696)_(44346410_?)del
|
|
|
NC_000002.12:g.(?_44299971)_(44318104_?)del
|
|
|
NC_000002.12:g.(?_44320179)_(44346410_?)del
|
|
|
NM_000341.4(SLC3A1):c.1370dup (p.Leu457fs)
|
rs2104383898
|
|
NM_000341.4(SLC3A1):c.1618-11T>A
|
|
|
NM_000341.4(SLC3A1):c.1618-16T>C
|
|
|
NM_000341.4(SLC3A1):c.1618-5A>T
|
|
|
NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)
|
|
|
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)
|
rs368796166
|
|
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)
|
rs371537299
|
|
NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)
|
|
|
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
|
|
|
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)
|
rs904926333
|
|
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
|
|
|
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly)
|
rs886056072
|
|
NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs)
|
rs1672820246
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)
|
|
|
NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)
|
|
|
NM_000341.4(SLC3A1):c.1812_1813del (p.Leu605fs)
|
|
|
NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)
|
|
|
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)
|
rs1672827519
|
|
NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)
|
rs376256364
|
|
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)
|
rs698761
|
|
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del)
|
rs886056073
|
|
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
|
|
|
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala)
|
rs1672839012
|
|
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
|
|
|
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)
|
rs121912695
|
|
NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)
|
|
|
NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)
|
|
|
NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)
|
|
|
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
|
|
|
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)
|
rs121912693
|
|
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)
|
|
|