NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu)
|
rs1322090067
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)
|
rs1064795109
|
0.00001
|
NM_000199.5(SGSH):c.1429del (p.Asp477fs)
|
rs781572815
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
|
rs372911015
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys)
|
rs201413321
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
|
|
|
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
|
|
|
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
|
|
|
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
|
|
|
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
|
|
|
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
|
|
|
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)
|
rs1567915763
|
|
NM_000199.5(SGSH):c.1097del (p.Ser366fs)
|
rs1598738720
|
|
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
|
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1147del (p.His383fs)
|
rs1598738369
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
|
|
|
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)
|
rs1598758001
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
|
|
|
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
|
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)
|
rs1555620141
|
|
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
|
|
|
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
|
|
|
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)
|
rs1567914459
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
|
|
|
NM_000199.5(SGSH):c.1455del (p.Val486fs)
|
|
|
NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50fs)
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
|
|
|
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
|
|
|
NM_000199.5(SGSH):c.216del (p.Ser73fs)
|
rs1555622888
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
|
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
|
|
|
NM_000199.5(SGSH):c.250-2A>G
|
|
|
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
|
|
|
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
|
rs1479456289
|
|
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
|
rs774010006
|
|
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer)
|
rs1555624111
|
|
NM_000199.5(SGSH):c.333_335delinsTGGT (p.Ser112fs)
|
|
|
NM_000199.5(SGSH):c.341_342insGCTCACC (p.Gly115fs)
|
|
|
NM_000199.5(SGSH):c.356-1G>A
|
rs1555621984
|
|
NM_000199.5(SGSH):c.356-29_380del
|
|
|
NM_000199.5(SGSH):c.356-2A>G
|
rs1057517927
|
|
NM_000199.5(SGSH):c.36_88+420del
|
|
|
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)
|
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
NM_000199.5(SGSH):c.47_48del (p.Gly16fs)
|
|
|
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)
|
rs1598749661
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.525_526insA (p.Ala176fs)
|
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
|
|
|
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)
|
rs1555624080
|
|
NM_000199.5(SGSH):c.573_574del (p.Thr192fs)
|
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
|
|
|
NM_000199.5(SGSH):c.663+1G>A
|
|
|
NM_000199.5(SGSH):c.664-1G>T
|
rs1555621425
|
|
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
|
|
|
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)
|
rs1057521801
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
|
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
|
|
|
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
|
|
|
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
|
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.745+1G>C
|
rs748525651
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
|
|
|
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro)
|
rs758793075
|
|
NM_000199.5(SGSH):c.88_88+67del
|
rs2144830115
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000199.5(SGSH):c.949+1G>A
|
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|