NM_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
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.1460del (p.Cys487fs)
|
rs386833809
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer)
|
rs748127544
|
0.00002
|
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)
|
rs773357652
|
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.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
GRCh37/hg19 14q11.2(chr14:23242388-23245542)
|
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)
|
|
|
NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)
|
|
|
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)
|
rs771254387
|
|
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.1228C>T (p.Arg410Ter)
|
rs121908678
|
|
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)
|
rs2139383552
|
|
NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs)
|
rs1489021418
|
|
NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)
|
|
|
NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)
|
|
|
NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)
|
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)
|
|
|
NM_003982.4(SLC7A7):c.177del (p.Lys60fs)
|
|
|
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)
|
rs2039348270
|
|
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)
|
rs386833812
|
|
NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)
|
|
|
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)
|
|
|
NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)
|
|
|
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)
|
rs2038690553
|
|
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)
|
rs1414333836
|
|
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>T
|
rs386833822
|
|
NM_003982.4(SLC7A7):c.626-2A>T
|
|
|
NM_003982.4(SLC7A7):c.669del (p.Phe223fs)
|
|
|
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.819_822del (p.Tyr274fs)
|
|
|
NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)
|
|
|
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.999-1G>C
|
|
|