NM_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)
|
rs121908677
|
0.00010
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg)
|
rs72552272
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer)
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rs748127544
|
0.00002
|
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)
|
rs773357652
|
0.00001
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)
|
rs752263234
|
0.00001
|
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)
|
rs1355745932
|
0.00001
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
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rs386833806
|
0.00001
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
GRCh37/hg19 14q11.2(chr14:23242388-23245542)
|
|
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NC_000014.8:g.(?_23241431)_(23290020_?)del
|
|
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NC_000014.8:g.(?_23242421)_(23285111_?)del
|
|
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NC_000014.8:g.(?_23242430)_(23245528_23248001)del
|
|
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NC_000014.8:g.(?_23242819)_(23282607_?)del
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|
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NC_000014.8:g.(?_23282099)_(23285111_?)del
|
|
|
NC_000014.9:g.(?_22773212)_(22776328_?)del
|
|
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NC_000014.9:g.(?_22773212)_(22780061_?)del
|
|
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NC_000014.9:g.(?_22773590)_(22776338_?)del
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|
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NC_000014.9:g.(?_22773590)_(22780071_?)del
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|
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NC_000014.9:g.(?_22773610)_(22776318_?)del
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|
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NC_000014.9:g.(?_22778783)_(22780061_?)del
|
|
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NC_000014.9:g.(?_22812880)_(22813418_?)del
|
|
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NC_000014.9:g.22774114_22774118del
|
rs2139383657
|
|
NG_012851.2:g.(19502_21380)_(21922_54769)del
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|
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NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_003982.4(SLC7A7):c.1028_1031dup (p.Pro345fs)
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|
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NM_003982.4(SLC7A7):c.1095+2del
|
rs1555320639
|
|
NM_003982.4(SLC7A7):c.1098dup (p.Ile367fs)
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|
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NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)
|
rs771254387
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
NM_003982.4(SLC7A7):c.1215del (p.Arg404_Trp405insTer)
|
|
|
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)
|
rs121908678
|
|
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)
|
rs2139383552
|
|
NM_003982.4(SLC7A7):c.126_129del (p.Val43fs)
|
rs2039349935
|
|
NM_003982.4(SLC7A7):c.1281C>A (p.Cys427Ter)
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|
|
NM_003982.4(SLC7A7):c.1288_1307delinsATCC (p.Phe430fs)
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|
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NM_003982.4(SLC7A7):c.1354_1355del (p.Ser452fs)
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|
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NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)
|
rs386833805
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.1400del (p.Lys467fs)
|
rs2139383000
|
|
NM_003982.4(SLC7A7):c.1429+1G>C
|
|
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NM_003982.4(SLC7A7):c.1429+2T>C
|
|
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NM_003982.4(SLC7A7):c.158_159delinsGA (p.Ser53Ter)
|
|
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NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)
|
rs386833812
|
|
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)
|
rs386833813
|
|
NM_003982.4(SLC7A7):c.285del (p.Thr96fs)
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|
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NM_003982.4(SLC7A7):c.293dup (p.Lys99fs)
|
rs2039344714
|
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NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)
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|
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NM_003982.4(SLC7A7):c.371del (p.Leu124fs)
|
rs2138662323
|
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NM_003982.4(SLC7A7):c.394C>T (p.Gln132Ter)
|
|
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NM_003982.4(SLC7A7):c.426_434del (p.Tyr142_Gln145delinsTer)
|
rs2039339219
|
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NM_003982.4(SLC7A7):c.455dup (p.Ala153fs)
|
|
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NM_003982.4(SLC7A7):c.465T>G (p.Tyr155Ter)
|
rs1029500488
|
|
NM_003982.4(SLC7A7):c.484_490dup (p.Ala164fs)
|
rs2039336515
|
|
NM_003982.4(SLC7A7):c.499+1G>A
|
rs386833817
|
|
NM_003982.4(SLC7A7):c.501T>A (p.Cys167Ter)
|
|
|
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)
|
rs2038690553
|
|
NM_003982.4(SLC7A7):c.537G>A (p.Trp179Ter)
|
|
|
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)
|
rs1414333836
|
|
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
|
|
|
NM_003982.4(SLC7A7):c.608_609del (p.Ile203fs)
|
rs2139397147
|
|
NM_003982.4(SLC7A7):c.616del (p.Gly207fs)
|
|
|
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)
|
rs386833821
|
|
NM_003982.4(SLC7A7):c.625+1G>C
|
rs386833822
|
|
NM_003982.4(SLC7A7):c.625+1G>T
|
rs386833822
|
|
NM_003982.4(SLC7A7):c.635_638dup (p.Phe214fs)
|
rs769721689
|
|
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)
|
rs386833823
|
|
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)
|
rs2038664064
|
|
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)
|
rs2139394686
|
|
NM_003982.4(SLC7A7):c.770+1del
|
rs2139394672
|
|
NM_003982.4(SLC7A7):c.816_822del (p.Ile273fs)
|
|
|
NM_003982.4(SLC7A7):c.889dup (p.Ala297fs)
|
rs2139388749
|
|
NM_003982.4(SLC7A7):c.894+1G>C
|
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
NM_003982.4(SLC7A7):c.895-2A>G
|
rs146582474
|
|
NM_003982.4(SLC7A7):c.895-2_895delinsCCATT
|
rs1594944871
|
|
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)
|
rs2038594225
|
|
NM_003982.4(SLC7A7):c.949del (p.Ala317fs)
|
rs2139387978
|
|
NM_003982.4(SLC7A7):c.970_989del (p.Leu324fs)
|
|
|
NM_003982.4(SLC7A7):c.998+1G>T
|
rs386833828
|
|
NM_003982.4(SLC7A7):c.[1228C>T;1387del]
|
|
|