NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
|
rs151243903
|
0.00010
|
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)
|
rs377605690
|
0.00009
|
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
|
rs149248428
|
0.00007
|
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)
|
rs76375023
|
0.00006
|
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp)
|
rs760618916
|
0.00004
|
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln)
|
rs375058146
|
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.1456G>A (p.Val486Ile)
|
rs764585957
|
0.00003
|
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
|
rs756193095
|
0.00003
|
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)
|
rs139075692
|
0.00001
|
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr)
|
rs773137508
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
|
rs753921560
|
0.00001
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)
|
rs1555620294
|
|
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)
|
rs370528435
|
|
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
|
|
|
NM_000199.5(SGSH):c.1426del (p.His476fs)
|
rs2041597805
|
|
NM_000199.5(SGSH):c.1472T>G (p.Leu491Arg)
|
|
|
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
|
|
|
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
|
|
|
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
|
|
|
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
|
|
|
NM_000199.5(SGSH):c.563C>A (p.Pro188His)
|
|
|
NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
|
|
|
NM_000199.5(SGSH):c.794A>G (p.Asp265Gly)
|
|
|
NM_000199.5(SGSH):c.921A>T (p.Gln307His)
|
|
|
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)
|
|
|