NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309 |
NM_000152.5(GAA):c.-312C>T
|
rs574326920 |
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236 |
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507 |
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677 |
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402 |
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678 |
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527 |
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061 |
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520 |
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477 |
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646 |
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607 |
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517 |
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078 |
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546 |
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286 |
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229 |
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383 |
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034 |
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224 |
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882 |
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292 |
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356 |
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090 |
NM_000152.5(GAA):c.1317_1319GAT[1] (p.Met440del)
|
rs1555600235 |
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502 |
NM_000152.5(GAA):c.1327-2A>G
|
rs0 |
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324 |
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858 |
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900 |
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275 |
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364 |
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209 |
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575 |
NM_000152.5(GAA):c.1437G>A (p.Lys479=)
|
rs796051877 |
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176 |
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730 |
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420 |
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394 |
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169 |
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275 |
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292 |
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989 |
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848 |
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964 |
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378 |
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720 |
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937 |
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174 |
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965 |
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426 |
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251 |
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308 |
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307 |
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475 |
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382 |
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428 |
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203 |
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304 |
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794 |
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280 |
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826 |
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727 |
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277 |
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002 |
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405 |
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896 |
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105 |
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647 |
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647 |
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374 |
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029 |
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119 |
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587 |
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999 |
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460 |
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393 |
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393 |
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393 |
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868 |
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121 |
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121 |
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121 |
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561 |
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659 |
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224 |
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467 |
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744 |
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246 |
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928 |
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643 |
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645 |
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172 |
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610 |
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549 |
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073 |
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311 |
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311 |
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316 |
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581 |
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338 |
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197 |
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328 |
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277 |
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763 |
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215 |
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312 |
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312 |
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355 |
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924 |
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984 |
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984 |
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848 |
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162 |
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860 |
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871 |
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882 |
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747 |
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591 |
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804 |
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507 |
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074 |
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687 |
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207 |
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048 |
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343 |
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943 |
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110 |
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996 |
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222 |
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894 |
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415 |
NM_000152.5(GAA):c.2647-23del
|
rs749000061 |
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574 |
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641 |
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048 |
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472 |
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324 |
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299 |
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738 |
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264 |
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857 |
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318 |
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499 |
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208 |
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503 |
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174 |
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246 |
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796 |
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800 |
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661 |
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806 |
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536 |
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226 |
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689 |
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235 |
NM_000152.5(GAA):c.546+5G>T
|
rs756024023 |
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371 |
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092 |
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714 |
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728 |
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395 |
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700 |
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219 |
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041 |
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792 |
NM_000152.5(GAA):c.692+5G>T
|
rs763027848 |
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846 |
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598 |
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594 |
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399 |
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920 |
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561 |
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619 |
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581 |
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532 |
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994 |
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815 |
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231 |
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546 |
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724 |
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086 |
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267 |
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723 |
NM_000152.5(GAA):c.858+8G>A
|
rs5822325 |
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823 |
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600 |
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359 |
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673 |
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936 |
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936 |
NM_000152.5(GAA):c.955+14C>A
|
rs756921041 |
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887 |
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960 |