NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
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.372-2A>G
|
rs483352896
|
0.00002
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)
|
rs1563366896
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
|
|
|
NM_152419.3(HGSNAT):c.1150C>G (p.Arg384Gly)
|
|
|
NM_152419.3(HGSNAT):c.1250+5G>A
|
|
|
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.1271dup (p.Ile425fs)
|
rs1804565177
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1378-1G>A
|
rs1804617510
|
|
NM_152419.3(HGSNAT):c.1907G>T (p.Ter636Leu)
|
|
|
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
|
rs1085307880
|
|
NM_152419.3(HGSNAT):c.776A>G (p.Tyr259Cys)
|
rs753843717
|
|
NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)
|
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|