NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
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.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
NM_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
NM_152419.3(HGSNAT):c.1012+2dup
|
rs1554533241
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
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.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter)
|
rs1554538302
|
|
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs)
|
rs1554538306
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)
|
rs1274083689
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln)
|
rs1554529803
|
|
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup)
|
rs1303048852
|
|
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup)
|
rs1554531686
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
|
rs1085307880
|
|
NM_152419.3(HGSNAT):c.743+1del
|
rs1554531744
|
|
NM_152419.3(HGSNAT):c.744-2A>G
|
rs762402992
|
|
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys)
|
rs1554532014
|
|
NM_152419.3(HGSNAT):c.851+1G>A
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.851+1G>T
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.852-1G>A
|
rs1447092074
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
|
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)
|
rs1554526454
|
|