NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
|
|
|
NC_000008.10:g.(?_43028846)_(43028896_?)dup
|
|
|
NM_152419.3(HGSNAT):c.1013-1G>C
|
rs1804147747
|
|
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)
|
|
|
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)
|
rs1804526900
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
|
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
NM_152419.3(HGSNAT):c.1378-2A>G
|
rs2130810560
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
|
|
|
NM_152419.3(HGSNAT):c.1542+1G>A
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+1G>C
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+2T>G
|
rs1554537613
|
|
NM_152419.3(HGSNAT):c.1543-2A>G
|
rs1804769861
|
|
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)
|
rs73569592
|
|
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)
|
|
|
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
|
rs1802738210
|
|
NM_152419.3(HGSNAT):c.1614-1G>C
|
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr)
|
rs2130821593
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
NM_152419.3(HGSNAT):c.1726+1G>A
|
|
|
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)
|
rs1802741140
|
|
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
|
rs1803166332
|
|
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)
|
rs1803167331
|
|
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
|
rs1803181154
|
|
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
|
rs1803182974
|
|
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)
|
rs553837106
|
|
NM_152419.3(HGSNAT):c.563+1G>C
|
|
|
NM_152419.3(HGSNAT):c.563+2T>A
|
rs2130722124
|
|
NM_152419.3(HGSNAT):c.564-1G>A
|
|
|
NM_152419.3(HGSNAT):c.567_568delinsT (p.Leu189fs)
|
|
|
NM_152419.3(HGSNAT):c.634-2A>G
|
|
|
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)
|
|
|
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)
|
|
|
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
|
|
|
NM_152419.3(HGSNAT):c.743+1del
|
rs1554531744
|
|
NM_152419.3(HGSNAT):c.744-2A>C
|
|
|
NM_152419.3(HGSNAT):c.744-2A>G
|
rs762402992
|
|
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser)
|
rs767574122
|
|
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
|
rs1803654249
|
|
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
|
|
|
NM_152419.3(HGSNAT):c.820+1G>A
|
|
|
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala)
|
rs1085307112
|
|
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)
|
rs2130754863
|
|
NM_152419.3(HGSNAT):c.851+1G>A
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.851+1G>T
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
|
rs1803878901
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|