NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
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.564-1G>A
|
rs1242842147
|
0.00001
|
NM_152419.3(HGSNAT):c.744-2A>C
|
rs762402992
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NC_000008.10:g.(?_43028846)_(43028896_?)dup
|
|
|
NC_000008.10:g.(?_43033197)_(43033397_?)dup
|
|
|
NM_152419.3(HGSNAT):c.1013-1G>C
|
rs1804147747
|
|
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)
|
rs756420301
|
|
NM_152419.3(HGSNAT):c.1129-11_1134del
|
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
NM_152419.3(HGSNAT):c.119-2A>C
|
|
|
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.1378-2A>G
|
rs2130810560
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
NM_152419.3(HGSNAT):c.1543-2A>G
|
rs1804769861
|
|
NM_152419.3(HGSNAT):c.1565_1577del (p.Thr522fs)
|
|
|
NM_152419.3(HGSNAT):c.1614-1G>C
|
rs2487118434
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr)
|
rs2130821593
|
|
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)
|
rs1586698317
|
|
NM_152419.3(HGSNAT):c.1726+1G>A
|
rs2487119248
|
|
NM_152419.3(HGSNAT):c.208dup (p.Tyr70fs)
|
|
|
NM_152419.3(HGSNAT):c.272del (p.Pro91fs)
|
rs1803166641
|
|
NM_152419.3(HGSNAT):c.321_324dup (p.Ser109fs)
|
|
|
NM_152419.3(HGSNAT):c.494-2A>G
|
rs2486918870
|
|
NM_152419.3(HGSNAT):c.563+1G>C
|
rs2486919501
|
|
NM_152419.3(HGSNAT):c.563+2T>A
|
rs2130722124
|
|
NM_152419.3(HGSNAT):c.634-2A>G
|
rs2486962491
|
|
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
|
rs2486963476
|
|
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser)
|
rs767574122
|
|
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
|
rs2486973322
|
|
NM_152419.3(HGSNAT):c.820+1G>A
|
rs2486973391
|
|
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)
|
rs2130754863
|
|
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
|
rs777146364
|
|