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.1460del (p.Cys487fs)
|
rs386833809
|
0.00002
|
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)
|
rs386833814
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu)
|
rs386833793
|
0.00001
|
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)
|
rs386833806
|
0.00001
|
NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)
|
rs386833815
|
0.00001
|
NC_000014.8:g.(23249261_23282108)_(23289021_?)del
|
|
|
NC_000014.8:g.(?_23247992)_(23249270_?)dup
|
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile)
|
rs386833792
|
|
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)
|
rs386833795
|
|
NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)
|
|
|
NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)
|
|
|
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)
|
rs386833796
|
|
NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr)
|
rs386833797
|
|
NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg)
|
rs386833799
|
|
NM_003982.4(SLC7A7):c.1169G>A (p.Trp390Ter)
|
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
NM_003982.4(SLC7A7):c.118_119insGTTA (p.Leu40fs)
|
|
|
NM_003982.4(SLC7A7):c.118_127del (p.Leu40fs)
|
|
|
NM_003982.4(SLC7A7):c.1215G>A (p.Trp405Ter)
|
|
|
NM_003982.4(SLC7A7):c.1245+2T>C
|
|
|
NM_003982.4(SLC7A7):c.1246-26_1248del
|
rs2038542991
|
|
NM_003982.4(SLC7A7):c.1262del (p.Pro421fs)
|
rs386833801
|
|
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)
|
rs2139383552
|
|
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)
|
rs386833802
|
|
NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs)
|
rs1489021418
|
|
NM_003982.4(SLC7A7):c.1344del (p.Ile449fs)
|
rs386833803
|
|
NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)
|
|
|
NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter)
|
rs386833804
|
|
NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)
|
|
|
NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)
|
|
|
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)
|
rs386833805
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)
|
|
|
NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro)
|
rs386833810
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_003982.4(SLC7A7):c.177del (p.Lys60fs)
|
|
|
NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)
|
|
|
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.2T>C (p.Met1Thr)
|
|
|
NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)
|
|
|
NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)
|
|
|
NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu)
|
rs386833816
|
|
NM_003982.4(SLC7A7):c.499+1G>A
|
rs386833817
|
|
NM_003982.4(SLC7A7):c.499+2T>G
|
|
|
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)
|
rs2038690553
|
|
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)
|
rs1414333836
|
|
NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile)
|
rs386833819
|
|
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)
|
rs386833820
|
|
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
|
|
|
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.626-2A>G
|
|
|
NM_003982.4(SLC7A7):c.626-2A>T
|
|
|
NM_003982.4(SLC7A7):c.669del (p.Phe223fs)
|
|
|
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)
|
|
|
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.753G>T (p.Glu251Asp)
|
rs386833824
|
|
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)
|
rs2139394686
|
|
NM_003982.4(SLC7A7):c.770+1G>A
|
|
|
NM_003982.4(SLC7A7):c.770+1G>T
|
rs1264298481
|
|
NM_003982.4(SLC7A7):c.770+1del
|
rs2139394672
|
|
NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro)
|
rs386833825
|
|
NM_003982.4(SLC7A7):c.819_822del (p.Tyr274fs)
|
|
|
NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs)
|
rs386833826
|
|
NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)
|
|
|
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)
|
rs2138663895
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
NM_003982.4(SLC7A7):c.895-2A>G
|
rs146582474
|
|
NM_003982.4(SLC7A7):c.928del (p.Trp310fs)
|
|
|
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)
|
rs2038594225
|
|
NM_003982.4(SLC7A7):c.944del (p.Leu314_Ser315insTer)
|
|
|
NM_003982.4(SLC7A7):c.94A>T (p.Lys32Ter)
|
|
|
NM_003982.4(SLC7A7):c.998+1G>T
|
rs386833828
|
|
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met)
|
rs386833829
|
|
NM_003982.4(SLC7A7):c.999-1G>C
|
|
|