NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys)
|
rs564435701
|
0.00006
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)
|
rs200416815
|
0.00003
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
|
rs1433404175
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
|
rs772299811
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152419.3(HGSNAT):c.1013-1G>C
|
rs1804147747
|
|
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)
|
rs752939204
|
|
NM_152419.3(HGSNAT):c.1081G>A (p.Val361Met)
|
|
|
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
|
|
|
NM_152419.3(HGSNAT):c.1229_1237del (p.Leu410_Val412del)
|
rs1804530896
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1348G>A (p.Asp450Asn)
|
|
|
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
|
|
|
NM_152419.3(HGSNAT):c.1496G>A (p.Arg499Gln)
|
|
|
NM_152419.3(HGSNAT):c.1542+4dup
|
rs1401818080
|
|
NM_152419.3(HGSNAT):c.1705_1707dup (p.Gly569_Thr570insGly)
|
|
|
NM_152419.3(HGSNAT):c.1856G>A (p.Trp619Ter)
|
rs1563388121
|
|
NM_152419.3(HGSNAT):c.448G>A (p.Ala150Thr)
|
|
|
NM_152419.3(HGSNAT):c.636G>A (p.Glu212=)
|
|
|
NM_152419.3(HGSNAT):c.636G>C (p.Glu212Asp)
|
|
|
NM_152419.3(HGSNAT):c.652A>G (p.Arg218Gly)
|
|
|
NM_152419.3(HGSNAT):c.791A>G (p.Tyr264Cys)
|
rs1803654618
|
|
NM_152419.3(HGSNAT):c.801C>G (p.Phe267Leu)
|
|
|
NM_152419.3(HGSNAT):c.820G>C (p.Gly274Arg)
|
|
|