NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys)
|
rs148775220
|
0.00009
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)
|
rs758575745
|
0.00001
|
NM_000170.3(GLDC):c.2052+1G>C
|
rs765906340
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp)
|
rs1817625926
|
0.00001
|
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln)
|
rs1452327155
|
0.00001
|
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly)
|
rs1288008254
|
0.00001
|
NM_000170.3(GLDC):c.714-2A>G
|
rs1170385434
|
0.00001
|
NC_000009.11:g.(?_6550793)_(6550924_?)dup
|
|
|
NC_000009.11:g.(?_6550793)_(6558694_?)dup
|
|
|
NC_000009.11:g.(?_6558564)_(6559850_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6595129_?)dup
|
|
|
NC_000009.11:g.(?_6602089)_(6604804_?)del
|
|
|
NC_000009.12:g.(?_6533007)_(6550924_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6558704_?)del
|
|
|
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
|
|
|
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
|
|
|
NM_000170.3(GLDC):c.1057_1058+13del
|
|
|
NM_000170.3(GLDC):c.1059-1G>C
|
rs1587958061
|
|
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
|
|
|
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr)
|
rs1300550278
|
|
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
|
|
|
NM_000170.3(GLDC):c.1261+1G>C
|
|
|
NM_000170.3(GLDC):c.1261+2T>A
|
rs1818463608
|
|
NM_000170.3(GLDC):c.1401+5G>T
|
|
|
NM_000170.3(GLDC):c.1402-1G>A
|
rs386833525
|
|
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
|
|
|
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
|
|
|
NM_000170.3(GLDC):c.1665+2del
|
|
|
NM_000170.3(GLDC):c.1666-1G>A
|
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1740C>G (p.His580Gln)
|
rs1587946346
|
|
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
|
|
|
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr)
|
rs2129831448
|
|
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu)
|
rs2129831443
|
|
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
|
|
|
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile)
|
rs1818287644
|
|
NM_000170.3(GLDC):c.1850+1del
|
rs1399754800
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1927-1G>A
|
rs2129735367
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2052+1G>A
|
rs765906340
|
|
NM_000170.3(GLDC):c.2053-2A>C
|
rs1323060528
|
|
NM_000170.3(GLDC):c.2053-2A>G
|
|
|
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
|
|
|
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr)
|
rs2129725849
|
|
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
|
|
|
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
|
|
|
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
|
|
|
NM_000170.3(GLDC):c.2279A>T (p.His760Leu)
|
rs1817583687
|
|
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
|
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala)
|
rs2129719653
|
|
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala)
|
rs760077981
|
|
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr)
|
rs1554643619
|
|
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)
|
rs2130031802
|
|
NM_000170.3(GLDC):c.255+3A>T
|
rs1417674040
|
|
NM_000170.3(GLDC):c.2570-2A>G
|
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2666-1G>A
|
rs1429861000
|
|
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser)
|
rs2129650066
|
|
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val)
|
rs1817122724
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp)
|
rs1172061571
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.335-1G>C
|
rs1554649675
|
|
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser)
|
rs386833578
|
|
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu)
|
rs2129948795
|
|
NM_000170.3(GLDC):c.471-1G>C
|
rs1818826951
|
|
NM_000170.3(GLDC):c.471-1G>T
|
|
|
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
|
|
|
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly)
|
rs386833583
|
|
NM_000170.3(GLDC):c.635+1G>A
|
rs1368757896
|
|
NM_000170.3(GLDC):c.635+1G>T
|
|
|
NM_000170.3(GLDC):c.636-2A>G
|
|
|
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro)
|
rs772832052
|
|
NM_000170.3(GLDC):c.713+1G>A
|
rs903653902
|
|
NM_000170.3(GLDC):c.714-1G>A
|
rs2129898670
|
|
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp)
|
rs1818705322
|
|
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
|
|
|
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
|
|
|
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)
|
rs141014950
|
|
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln)
|
rs1207147043
|
|