NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)
|
rs121964979
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000481.4(AMT):c.248A>G (p.His83Arg)
|
rs1467607949
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)
|
rs769222264
|
0.00002
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr)
|
rs759133707
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln)
|
rs747853668
|
0.00001
|
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr)
|
rs1366947118
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)
|
rs751025203
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2315+1G>T
|
rs1252460597
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)
|
rs121964977
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)
|
rs1410625190
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)
|
rs386833576
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000170.3(GLDC):c.538C>T (p.Gln180Ter)
|
rs762989914
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.847C>T (p.Pro283Ser)
|
rs771214835
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
GCSH, COMPLEX REARRANGEMENT
|
|
|
NC_000003.11:g.(?_49454201)_(49457785_?)del
|
|
|
NC_000003.12:g.(?_49421482)_(49424348_?)del
|
|
|
NC_000009.11:g.(6620320_6644613)_(6645693_?)del
|
|
|
NC_000009.11:g.(?_6533007)_(6558694_?)del
|
|
|
NC_000009.11:g.(?_6533007)_(6565439_?)del
|
|
|
NC_000009.11:g.(?_6533007)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6595139_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6620339_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6534707)_(6538467_?)del
|
|
|
NC_000009.11:g.(?_6540041)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6549859)_(6553343_?)del
|
|
|
NC_000009.11:g.(?_6550783)_(6554801_?)del
|
|
|
NC_000009.11:g.(?_6550783)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6550783)_(6645519_?)del
|
|
|
NC_000009.11:g.(?_6550793)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6554649)_(6554801_?)del
|
|
|
NC_000009.11:g.(?_6565334)_(6565449_?)dup
|
|
|
NC_000009.11:g.(?_6587121)_(6595139_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6589302_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6595129_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6602215_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6587181)_(6602209_?)del
|
|
|
NC_000009.11:g.(?_6592123)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6602018)_(6606679_?)del
|
|
|
NC_000009.11:g.(?_6602018)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6605298_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6620339_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6604578)_(6606679_?)del
|
|
|
NC_000009.11:g.(?_6604578)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6606582)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6610182)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6610182)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6610182)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6620174)_(6620329_?)dup
|
|
|
NC_000009.11:g.(?_6620184)_(6645307_?)del
|
|
|
NC_000009.11:g.(?_6644594)_(6645499_?)del
|
|
|
NC_000009.12:g.(?_6532997)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6533007)_(6610366_?)del
|
|
|
NC_000009.12:g.(?_6550783)_(6620339_?)del
|
|
|
NC_000009.12:g.(?_6550793)_(6610366_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6565449_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6587121)_(6606689_?)del
|
|
|
NC_000009.12:g.(?_6587121)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6587131)_(6606679_?)del
|
|
|
NC_000009.12:g.(?_6592841)_(6620329_?)del
|
|
|
NC_000009.12:g.(?_6595004)_(6620329_?)del
|
|
|
NC_000009.12:g.(?_6604568)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6606572)_(6606689_?)del
|
|
|
NC_000009.12:g.(?_6606582)_(6606679_?)del
|
|
|
NC_000009.12:g.(?_6610172)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6620164)_(6620339_?)del
|
|
|
NC_000009.12:g.(?_6620174)_(6620329_?)del
|
|
|
NC_000009.12:g.(?_6620174)_(6645509_?)del
|
|
|
NC_000009.12:g.(?_6644594)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6644604)_(6645509_?)del
|
|
|
NC_000016.10:g.(?_81082846)_(81096298_?)del
|
|
|
NC_000016.9:g.(?_81121196)_(81129883_?)del
|
|
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
|
rs1818691758
|
|
NM_000170.3(GLDC):c.1051del (p.Gly350_Val351insTer)
|
rs2129895643
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1058+2T>A
|
rs1587959976
|
|
NM_000170.3(GLDC):c.1058+2T>C
|
|
|
NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter)
|
rs2129885505
|
|
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)
|
|
|
NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)
|
|
|
NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln)
|
rs2129885269
|
|
NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr)
|
rs775502762
|
|
NM_000170.3(GLDC):c.1143del (p.Cys382fs)
|
|
|
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)
|
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)
|
|
|
NM_000170.3(GLDC):c.122del (p.Gly41fs)
|
rs2130032358
|
|
NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter)
|
rs1227030484
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
NM_000170.3(GLDC):c.1293del (p.His431fs)
|
|
|
NM_000170.3(GLDC):c.1337del (p.Val446fs)
|
rs1587951033
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro)
|
rs2129850481
|
|
NM_000170.3(GLDC):c.1438del (p.Asp480fs)
|
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1580+1G>C
|
|
|
NM_000170.3(GLDC):c.1580+2T>G
|
rs1554646710
|
|
NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr)
|
rs1247180998
|
|
NM_000170.3(GLDC):c.1581-42_1665+5del
|
rs2129837171
|
|
NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)
|
|
|
NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter)
|
rs1818317328
|
|
NM_000170.3(GLDC):c.1629del (p.Asn543fs)
|
rs1345599468
|
|
NM_000170.3(GLDC):c.1636del (p.Ile546fs)
|
rs1818316799
|
|
NM_000170.3(GLDC):c.1638_1655del (p.Ile546_Ser551del)
|
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1665+1G>A
|
rs267602258
|
|
NM_000170.3(GLDC):c.1678A>G (p.Met560Val)
|
rs1818312039
|
|
NM_000170.3(GLDC):c.1709del (p.Pro570fs)
|
|
|
NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter)
|
rs959935793
|
|
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)
|
rs1164241828
|
|
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter)
|
rs1818289368
|
|
NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter)
|
rs2129831711
|
|
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)
|
rs2129831435
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1851-1G>A
|
|
|
NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter)
|
rs758575745
|
|
NM_000170.3(GLDC):c.1862del (p.Gly621fs)
|
rs1449126451
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro)
|
rs763517274
|
|
NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter)
|
rs1272244088
|
|
NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter)
|
rs2129758221
|
|
NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter)
|
rs2129758198
|
|
NM_000170.3(GLDC):c.1944del (p.Lys648fs)
|
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)
|
rs1301895668
|
|
NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter)
|
rs774506115
|
|
NM_000170.3(GLDC):c.209C>G (p.Pro70Arg)
|
rs776730073
|
|
NM_000170.3(GLDC):c.209del (p.Pro70fs)
|
|
|
NM_000170.3(GLDC):c.2113del (p.Val705fs)
|
rs2129726392
|
|
NM_000170.3(GLDC):c.2134_2135insT (p.Asp712fs)
|
|
|
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)
|
rs779434645
|
|
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter)
|
rs147951756
|
|
NM_000170.3(GLDC):c.2176del (p.Tyr725_Leu726insTer)
|
rs2129725961
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)
|
|
|
NM_000170.3(GLDC):c.2203-1G>A
|
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2203-2A>T
|
|
|
NM_000170.3(GLDC):c.2225_2232del (p.Asp742fs)
|
rs1817584930
|
|
NM_000170.3(GLDC):c.2236G>C (p.Asp746His)
|
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del)
|
rs121964975
|
|
NM_000170.3(GLDC):c.2278dup (p.His760fs)
|
rs1563834980
|
|
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg)
|
rs386833549
|
|
NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp)
|
rs1374110692
|
|
NM_000170.3(GLDC):c.2310del (p.Ile770fs)
|
rs2129719586
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)
|
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter)
|
rs2129714616
|
|
NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu)
|
rs1587922096
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter)
|
rs1447727878
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)
|
rs1163356968
|
|
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
|
|
|
NM_000170.3(GLDC):c.251del (p.Leu84fs)
|
rs2130031690
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)
|
rs770743220
|
|
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter)
|
rs1554643354
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
NM_000170.3(GLDC):c.2594del (p.Leu865fs)
|
|
|
NM_000170.3(GLDC):c.2596G>C (p.Asp866His)
|
rs2129663304
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)
|
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
NM_000170.3(GLDC):c.2665+1G>A
|
rs149070244
|
|
NM_000170.3(GLDC):c.2665+1G>T
|
|
|
NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter)
|
rs2129649998
|
|
NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu)
|
rs2129649871
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)
|
rs1817122724
|
|
NM_000170.3(GLDC):c.2770_2774del (p.Ile924fs)
|
|
|
NM_000170.3(GLDC):c.2778del (p.Arg927fs)
|
|
|
NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)
|
|
|
NM_000170.3(GLDC):c.2791del (p.Ala931fs)
|
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
NM_000170.3(GLDC):c.2824del (p.Val942fs)
|
rs2129649366
|
|
NM_000170.3(GLDC):c.2838+1G>A
|
rs542056100
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2838+5G>T
|
|
|
NM_000170.3(GLDC):c.2841dup (p.Ser948fs)
|
|
|
NM_000170.3(GLDC):c.2870_2909del (p.Ser957fs)
|
rs2129645235
|
|
NM_000170.3(GLDC):c.2876_2877del (p.His959fs)
|
rs2129645358
|
|
NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)
|
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.2919+1G>C
|
rs386833575
|
|
NM_000170.3(GLDC):c.2919+5G>T
|
rs768091555
|
|
NM_000170.3(GLDC):c.291del (p.Asn98fs)
|
rs2130029354
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
NM_000170.3(GLDC):c.2978_2979del (p.Tyr993fs)
|
|
|
NM_000170.3(GLDC):c.2978dup (p.Tyr993Ter)
|
|
|
NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter)
|
rs1296191006
|
|
NM_000170.3(GLDC):c.2T>A (p.Met1Lys)
|
rs121964978
|
|
NM_000170.3(GLDC):c.2T>C (p.Met1Thr)
|
rs121964978
|
|
NM_000170.3(GLDC):c.307dup (p.Arg103fs)
|
rs2130029302
|
|
NM_000170.3(GLDC):c.319del (p.Met107fs)
|
|
|
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter)
|
rs2130029228
|
|
NM_000170.3(GLDC):c.331_332insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGGAAGACCCTG (p.Val111delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.356_362del (p.Thr119fs)
|
|
|
NM_000170.3(GLDC):c.357_358insTAAACT (p.Leu120Ter)
|
rs2129949245
|
|
NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)
|
|
|
NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)
|
|
|
NM_000170.3(GLDC):c.411_412insAATA (p.Tyr138fs)
|
rs1563864784
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)
|
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
NM_000170.3(GLDC):c.466G>C (p.Gly156Arg)
|
rs1819058509
|
|
NM_000170.3(GLDC):c.470+1G>C
|
|
|
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter)
|
rs1264725941
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000170.3(GLDC):c.490T>C (p.Tyr164His)
|
|
|
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)
|
rs746124283
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.509_510del (p.Gln170fs)
|
rs2129916678
|
|
NM_000170.3(GLDC):c.527del (p.Leu176fs)
|
rs1563859767
|
|
NM_000170.3(GLDC):c.547del (p.Val183fs)
|
|
|
NM_000170.3(GLDC):c.573_574insA (p.Ala192fs)
|
|
|
NM_000170.3(GLDC):c.582_589del (p.Ser195fs)
|
|
|
NM_000170.3(GLDC):c.585_589del (p.Leu196fs)
|
|
|
NM_000170.3(GLDC):c.586del (p.Leu196fs)
|
rs2129916327
|
|
NM_000170.3(GLDC):c.600del (p.Thr201fs)
|
rs2129916293
|
|
NM_000170.3(GLDC):c.613del (p.Glu205fs)
|
rs2129916235
|
|
NM_000170.3(GLDC):c.636-1G>T
|
|
|
NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)
|
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000170.3(GLDC):c.708_709del (p.Ala237fs)
|
|
|
NM_000170.3(GLDC):c.77C>A (p.Ser26Ter)
|
rs2130032664
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter)
|
rs2129898271
|
|
NM_000170.3(GLDC):c.80_93del (p.Gly27fs)
|
|
|
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
|
|
|
NM_000170.3(GLDC):c.861+2T>A
|
rs2129897960
|
|
NM_000170.3(GLDC):c.861+2T>C
|
|
|
NM_000170.3(GLDC):c.862-5_883del
|
rs2129896575
|
|
NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr)
|
rs777632051
|
|
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)
|
rs1819724531
|
|
NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)
|
|
|
NM_000170.3(GLDC):c.91del (p.Ala31fs)
|
|
|
NM_000170.3(GLDC):c.94_121del (p.Pro32fs)
|
|
|
NM_000170.3(GLDC):c.969_970dup (p.Leu324fs)
|
rs1818693456
|
|
NM_000481.4(AMT):c.1033+1G>A
|
|
|
NM_000481.4(AMT):c.1033+1G>C
|
rs2107928969
|
|
NM_000481.4(AMT):c.1033+2T>C
|
rs1553638247
|
|
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
|
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.10del (p.Ala4fs)
|
|
|
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
|
|
|
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
|
|
|
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)
|
rs2049020585
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.164G>A (p.Trp55Ter)
|
rs1559530507
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.168_171del (p.Leu57fs)
|
rs2107937574
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.178C>T (p.Gln60Ter)
|
rs2107937536
|
|
NM_000481.4(AMT):c.20_21del (p.Val7fs)
|
rs1575309867
|
|
NM_000481.4(AMT):c.221del (p.Gln74fs)
|
rs2107937370
|
|
NM_000481.4(AMT):c.224del (p.His75fs)
|
rs2107937352
|
|
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
|
|
|
NM_000481.4(AMT):c.250_251del (p.Met84fs)
|
|
|
NM_000481.4(AMT):c.256C>T (p.Gln86Ter)
|
rs1575308888
|
|
NM_000481.4(AMT):c.257dup (p.Thr87fs)
|
rs2107937267
|
|
NM_000481.4(AMT):c.259-2A>C
|
rs748522054
|
|
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
|
|
|
NM_000481.4(AMT):c.2T>A (p.Met1Lys)
|
rs1266259634
|
|
NM_000481.4(AMT):c.2T>C (p.Met1Thr)
|
rs1266259634
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.478del (p.Val160fs)
|
rs1575305901
|
|
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
|
|
|
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
|
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.59dup (p.Ala21fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.602_603del (p.Lys201fs)
|
rs1279743247
|
|
NM_000481.4(AMT):c.609dup (p.Phe204fs)
|
rs2107932226
|
|
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
|
|
|
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
|
|
|
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
|
|
|
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
|
|
|
NM_000481.4(AMT):c.734_735del (p.Thr245fs)
|
rs2049052992
|
|
NM_000481.4(AMT):c.74del (p.Pro25fs)
|
|
|
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
|
|
|
NM_000481.4(AMT):c.771del (p.Leu258fs)
|
|
|
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
|
|
|
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter)
|
rs2107931458
|
|
NM_000481.4(AMT):c.870G>A (p.Trp290Ter)
|
rs797045082
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.908del (p.Pro303fs)
|
rs1575303218
|
|
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
|
|
|
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
|
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000481.4(AMT):c.999_1000del (p.His333fs)
|
|
|
NM_001164710.2(AMT):c.340-552del
|
rs2107933839
|
|
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs)
|
rs1972233022
|
|