NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00028
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)
|
rs201502095
|
0.00007
|
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
|
rs140873167
|
0.00006
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
0.00005
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)
|
rs776729515
|
0.00001
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
NM_000341.4(SLC3A1):c.766-2A>C
|
rs201376169
|
0.00001
|
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)
|
rs769448665
|
0.00001
|
NM_014270.5(SLC7A9):c.88-2A>G
|
rs1085307095
|
0.00001
|
NC_000002.11:g.(?_44508506)_(44508700_?)dup
|
|
|
NC_000002.11:g.(?_44508506)_(44541110_?)del
|
|
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NC_000002.12:g.(?_44280696)_(44346410_?)del
|
|
|
NM_000341.4(SLC3A1):c.1011+3A>G
|
rs1206425661
|
|
NM_000341.4(SLC3A1):c.1012-9_1012del
|
rs2104364101
|
|
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)
|
rs567478582
|
|
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
|
|
|
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)
|
|
|
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)
|
rs1672093819
|
|
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs)
|
rs797044609
|
|
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)
|
|
|
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
NM_000341.4(SLC3A1):c.1617+1dup
|
rs2104385579
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)
|
|
|
NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)
|
|
|
NM_000341.4(SLC3A1):c.183del (p.Val62fs)
|
|
|
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
|
|
|
NM_000341.4(SLC3A1):c.430+2T>G
|
rs1558450604
|
|
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)
|
|
|
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
|
|
|
NM_000341.4(SLC3A1):c.891+2T>C
|
rs2104342335
|
|
NM_000341.4(SLC3A1):c.891+4A>G
|
|
|
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
|
rs140179068
|
|
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)
|
|
|
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs)
|
rs779653925
|
|
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)
|
rs988712826
|
|
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)
|
rs753121162
|
|
NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer)
|
rs2145846311
|
|
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)
|
rs12150890
|
|
NM_014270.5(SLC7A9):c.450_452del (p.Val151del)
|
rs1294838201
|
|
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)
|
|
|
NM_014270.5(SLC7A9):c.749+1G>C
|
rs1060499787
|
|
NM_016343.4(CENPF):c.997_1012del (p.Glu333fs)
|
rs1657525413
|
|
Single allele
|
|
|