NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)
|
rs747897332
|
0.00006
|
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
0.00006
|
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys)
|
rs201741770
|
0.00005
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu)
|
rs121918250
|
0.00001
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.295A>G (p.Met99Val)
|
rs1467385866
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.545T>G (p.Met182Arg)
|
rs763208217
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)
|
rs1313120333
|
0.00001
|
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)
|
rs1254433398
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter)
|
rs750583669
|
0.00001
|
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)
|
rs1554160246
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
|
rs750475071
|
0.00001
|
NM_000255.4(MMUT):c.-39-2A>G
|
rs1767786464
|
|
NM_000255.4(MMUT):c.1007del (p.Met336fs)
|
rs1064796328
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
|
|
|
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
|
|
|
NM_000255.4(MMUT):c.1083+1G>A
|
rs1554160198
|
|
NM_000255.4(MMUT):c.1083+1G>T
|
|
|
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
|
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1102del (p.Val368fs)
|
rs1767558588
|
|
NM_000255.4(MMUT):c.1107dup (p.Thr370fs)
|
rs1767558268
|
|
NM_000255.4(MMUT):c.1108A>G (p.Thr370Ala)
|
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val)
|
rs1554159942
|
|
NM_000255.4(MMUT):c.1148dup (p.Ser384fs)
|
rs771021560
|
|
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)
|
rs1767556193
|
|
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
|
|
|
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
|
|
|
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
|
|
|
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
|
rs1767555126
|
|
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)
|
rs727504020
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1279G>A (p.Gly427Ser)
|
|
|
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
|
rs1346775255
|
|
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)
|
rs1297307718
|
|
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp)
|
|
|
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro)
|
rs1554159871
|
|
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)
|
rs1767549304
|
|
NM_000255.4(MMUT):c.1332+1G>C
|
|
|
NM_000255.4(MMUT):c.1333-8_1333-3del
|
|
|
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
|
rs1767479902
|
|
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)
|
rs768608311
|
|
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
|
rs1767478925
|
|
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)
|
rs368746965
|
|
NM_000255.4(MMUT):c.1436dup (p.Asp480fs)
|
rs2127417136
|
|
NM_000255.4(MMUT):c.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
|
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
|
|
|
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro)
|
rs864309738
|
|
NM_000255.4(MMUT):c.1560+2T>C
|
rs1767442652
|
|
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
|
rs748358807
|
|
NM_000255.4(MMUT):c.1581dup (p.Ala528fs)
|
rs1767368923
|
|
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
|
|
|
NM_000255.4(MMUT):c.1645del (p.Leu549fs)
|
rs1767365298
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1664C>T (p.Ala555Val)
|
|
|
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)
|
rs1289671563
|
|
NM_000255.4(MMUT):c.1675A>G (p.Arg559Gly)
|
|
|
NM_000255.4(MMUT):c.1677-1G>C
|
rs754369323
|
|
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)
|
rs1767289269
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
|
|
|
NM_000255.4(MMUT):c.1760A>C (p.Tyr587Ser)
|
rs1767285693
|
|
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
|
rs1767285621
|
|
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)
|
rs148285323
|
|
NM_000255.4(MMUT):c.1787del (p.Glu596fs)
|
rs1767284074
|
|
NM_000255.4(MMUT):c.1792_1808+6del
|
rs2127415155
|
|
NM_000255.4(MMUT):c.1802del (p.Ile601fs)
|
|
|
NM_000255.4(MMUT):c.1809-1G>C
|
|
|
NM_000255.4(MMUT):c.1809-2A>T
|
rs1767243474
|
|
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)
|
rs1369724342
|
|
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)
|
rs121918254
|
|
NM_000255.4(MMUT):c.1870C>A (p.Gln624Lys)
|
|
|
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
|
rs1767240499
|
|
NM_000255.4(MMUT):c.1873G>A (p.Asp625Asn)
|
|
|
NM_000255.4(MMUT):c.1875T>A (p.Asp625Glu)
|
|
|
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)
|
rs143023066
|
|
NM_000255.4(MMUT):c.1897G>C (p.Val633Leu)
|
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
NM_000255.4(MMUT):c.1943G>C (p.Gly648Ala)
|
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1957-899A>G
|
rs1767133183
|
|
NM_000255.4(MMUT):c.1990del (p.Ala664fs)
|
rs1554158372
|
|
NM_000255.4(MMUT):c.1996G>A (p.Val666Met)
|
rs776430285
|
|
NM_000255.4(MMUT):c.2008G>C (p.Gly670Arg)
|
|
|
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val)
|
rs1164271240
|
|
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe)
|
rs1164271240
|
|
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
|
|
|
NM_000255.4(MMUT):c.2081G>A (p.Arg694Gln)
|
|
|
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)
|
rs1554158325
|
|
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg)
|
rs772888575
|
|
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)
|
rs776176938
|
|
NM_000255.4(MMUT):c.2150G>A (p.Gly717Asp)
|
|
|
NM_000255.4(MMUT):c.2167G>A (p.Gly723Ser)
|
|
|
NM_000255.4(MMUT):c.2168G>A (p.Gly723Asp)
|
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.256C>A (p.Pro86Thr)
|
|
|
NM_000255.4(MMUT):c.257C>G (p.Pro86Arg)
|
|
|
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser)
|
rs746274670
|
|
NM_000255.4(MMUT):c.296T>C (p.Met99Thr)
|
rs1767770379
|
|
NM_000255.4(MMUT):c.29del (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.322C>G (p.Arg108Gly)
|
rs121918257
|
|
NM_000255.4(MMUT):c.323G>T (p.Arg108Leu)
|
|
|
NM_000255.4(MMUT):c.360T>G (p.Asn120Lys)
|
|
|
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)
|
rs796052009
|
|
NM_000255.4(MMUT):c.385+2T>C
|
rs1192889987
|
|
NM_000255.4(MMUT):c.385+5G>A
|
rs1460509686
|
|
NM_000255.4(MMUT):c.386-1G>A
|
rs2127420084
|
|
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
|
rs879253828
|
|
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
|
rs1767739242
|
|
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly)
|
rs941483851
|
|
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
|
rs565348836
|
|
NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)
|
|
|
NM_000255.4(MMUT):c.446A>G (p.Asp149Gly)
|
|
|
NM_000255.4(MMUT):c.446dup (p.Asp149fs)
|
rs1767737608
|
|
NM_000255.4(MMUT):c.457G>A (p.Val153Ile)
|
|
|
NM_000255.4(MMUT):c.466G>A (p.Asp156Asn)
|
|
|
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
|
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)
|
rs1561959114
|
|
NM_000255.4(MMUT):c.571G>T (p.Ala191Ser)
|
|
|
NM_000255.4(MMUT):c.590C>A (p.Ala197Glu)
|
|
|
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter)
|
rs1767780776
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)
|
rs764347583
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.688A>G (p.Thr230Ala)
|
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)
|
rs864309736
|
|
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
|
rs1767726007
|
|
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)
|
rs1319034847
|
|
NM_000255.4(MMUT):c.753+3A>G
|
|
|
NM_000255.4(MMUT):c.754-2A>G
|
rs1405705785
|
|
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
|
|
|
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)
|
rs1767683356
|
|
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
|
rs1767683238
|
|
NM_000255.4(MMUT):c.793C>T (p.His265Tyr)
|
|
|
NM_000255.4(MMUT):c.806C>T (p.Ala269Val)
|
rs767593892
|
|
NM_000255.4(MMUT):c.839dup (p.Leu281fs)
|
rs2127419415
|
|
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
|
rs796052007
|
|
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)
|
rs1179778233
|
|
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)
|
rs1767678885
|
|
NM_000255.4(MMUT):c.912-1G>A
|
rs1561957527
|
|
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.925T>G (p.Trp309Gly)
|
rs2127418704
|
|
NM_000255.4(MMUT):c.927G>C (p.Trp309Cys)
|
|
|
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
|
rs1767617149
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
|
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)
|
rs1581832011
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000255.4(MMUT):c.970G>T (p.Ala324Ser)
|
|
|
NM_000255.4(MMUT):c.975del (p.Arg326fs)
|
|
|
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)
|
rs1085308002
|
|
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
|
rs1767615100
|
|