NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
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.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
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.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)
|
rs1459579613
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
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.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)
|
rs1555621659
|
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.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000199.5(SGSH):c.1345del (p.Gln449fs)
|
rs1466245913
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.757del (p.Val253fs)
|
rs760281672
|
|