NC_000019.10:g.(?_40403686)_(40403882_?)del
|
|
NC_000019.10:g.(?_40403696)_(40403872_?)del
|
|
NC_000019.9:g.(?_40899863)_(40913849_?)dup
|
|
NM_020956.2(PRX):c.*1020C>T
|
rs747384252 |
NM_020956.2(PRX):c.*1028C>A
|
rs200033507 |
NM_020956.2(PRX):c.*1038C>T
|
rs886054440 |
NM_020956.2(PRX):c.*1044C>T
|
rs557355077 |
NM_020956.2(PRX):c.*1052G>A
|
rs535087433 |
NM_020956.2(PRX):c.*1053T>G
|
rs776556523 |
NM_020956.2(PRX):c.*1080_*1111del
|
rs1599655871 |
NM_020956.2(PRX):c.*1097C>T
|
rs185112635 |
NM_020956.2(PRX):c.*1120_*1128dup
|
rs1170437868 |
NM_020956.2(PRX):c.*1127A>G
|
rs753330520 |
NM_020956.2(PRX):c.*1129A>T
|
rs1599655829 |
NM_020956.2(PRX):c.*1132T>G
|
rs1599655820 |
NM_020956.2(PRX):c.*1141A>G
|
rs752086513 |
NM_020956.2(PRX):c.*1151G>C
|
rs1555801306 |
NM_020956.2(PRX):c.*1165G>A
|
rs775367319 |
NM_020956.2(PRX):c.*1171G>T
|
rs139544245 |
NM_020956.2(PRX):c.*1184del
|
rs1568708792 |
NM_020956.2(PRX):c.*1197C>T
|
rs566629777 |
NM_020956.2(PRX):c.*1198G>A
|
rs146323928 |
NM_020956.2(PRX):c.*1199A>G
|
rs143710873 |
NM_020956.2(PRX):c.*1217del
|
rs1555801290 |
NM_020956.2(PRX):c.*1218C>T
|
rs1368840723 |
NM_020956.2(PRX):c.*1224C>T
|
rs780373582 |
NM_020956.2(PRX):c.*1231A>C
|
rs150772010 |
NM_020956.2(PRX):c.*1245G>A
|
rs141288626 |
NM_020956.2(PRX):c.*1256C>T
|
rs73933276 |
NM_020956.2(PRX):c.*1292C>G
|
rs886054439 |
NM_020956.2(PRX):c.*1295C>T
|
rs144183238 |
NM_020956.2(PRX):c.*1296G>A
|
rs561482109 |
NM_020956.2(PRX):c.*1305C>A
|
rs143400291 |
NM_020956.2(PRX):c.*1307C>T
|
rs104894715 |
NM_020956.2(PRX):c.*1334G>T
|
rs754081921 |
NM_020956.2(PRX):c.*1346A>C
|
rs1049349860 |
NM_020956.2(PRX):c.*1349C>G
|
rs759440986 |
NM_020956.2(PRX):c.*1379C>T
|
rs773009397 |
NM_020956.2(PRX):c.*1399_*1402del
|
rs1599655206 |
NM_020956.2(PRX):c.*1416G>A
|
rs146948818 |
NM_020956.2(PRX):c.*1420C>T
|
rs377184301 |
NM_020956.2(PRX):c.*1421G>A
|
rs117336941 |
NM_020956.2(PRX):c.*1427C>T
|
rs150244426 |
NM_020956.2(PRX):c.*1460A>T
|
rs766358380 |
NM_020956.2(PRX):c.*1486C>T
|
rs76960467 |
NM_020956.2(PRX):c.*1574G>A
|
rs142064826 |
NM_020956.2(PRX):c.*1574G>C
|
rs142064826 |
NM_020956.2(PRX):c.*1592G>T
|
rs764004836 |
NM_020956.2(PRX):c.*1595C>T
|
rs574861276 |
NM_020956.2(PRX):c.*1596G>A
|
rs553211374 |
NM_020956.2(PRX):c.*1665C>T
|
rs778936443 |
NM_020956.2(PRX):c.*1666G>A
|
rs757009052 |
NM_020956.2(PRX):c.*1688G>C
|
rs146789340 |
NM_020956.2(PRX):c.*1688_*1765del
|
rs1555801137 |
NM_020956.2(PRX):c.*1705A>G
|
rs777104457 |
NM_020956.2(PRX):c.*1715C>T
|
rs192607896 |
NM_020956.2(PRX):c.*1743C>T
|
rs148742209 |
NM_020956.2(PRX):c.*1751C>T
|
rs144305922 |
NM_020956.2(PRX):c.*1773T>C
|
rs550446238 |
NM_020956.2(PRX):c.*1779T>C
|
rs149715830 |
NM_020956.2(PRX):c.*1783G>A
|
rs567690884 |
NM_020956.2(PRX):c.*1783_*1806dup
|
rs764208864 |
NM_020956.2(PRX):c.*1790A>G
|
rs767098112 |
NM_020956.2(PRX):c.*1818T>C
|
rs765791679 |
NM_020956.2(PRX):c.*1829C>T
|
rs201337455 |
NM_020956.2(PRX):c.*1830G>A
|
rs139586219 |
NM_020956.2(PRX):c.*1844C>T
|
rs1254691308 |
NM_020956.2(PRX):c.*1856G>A
|
rs61733448 |
NM_020956.2(PRX):c.*1863A>G
|
rs879254301 |
NM_020956.2(PRX):c.*1871_*1948del
|
rs1599654291 |
NM_020956.2(PRX):c.*1919G>A
|
rs370979792 |
NM_020956.2(PRX):c.*1923A>G
|
rs1289149165 |
NM_020956.2(PRX):c.*1995A>G
|
rs746698242 |
NM_020956.2(PRX):c.*2018C>T
|
rs1555801070 |
NM_020956.2(PRX):c.*2032C>T
|
rs751816156 |
NM_020956.2(PRX):c.*2033G>A
|
rs537664679 |
NM_020956.2(PRX):c.*2041C>T
|
rs574899855 |
NM_020956.2(PRX):c.*2042G>A
|
rs773222045 |
NM_020956.2(PRX):c.*2069C>T
|
rs1210729449 |
NM_020956.2(PRX):c.*2096C>G
|
rs886054438 |
NM_020956.2(PRX):c.*2103A>T
|
rs1599654002 |
NM_020956.2(PRX):c.*2105_*2119del
|
rs575492732 |
NM_020956.2(PRX):c.*2111C>T
|
rs756785716 |
NM_020956.2(PRX):c.*2140C>T
|
rs763132536 |
NM_020956.2(PRX):c.*2156G>A
|
rs3814290 |
NM_020956.2(PRX):c.*2169C>T
|
rs118003416 |
NM_020956.2(PRX):c.*2170G>A
|
rs186171971 |
NM_020956.2(PRX):c.*2184C>T
|
rs748737580 |
NM_020956.2(PRX):c.*2204C>G
|
rs1599653741 |
NM_020956.2(PRX):c.*2222A>G
|
rs61735531 |
NM_020956.2(PRX):c.*2238T>C
|
rs1568706919 |
NM_020956.2(PRX):c.*2240C>T
|
rs1469912467 |
NM_020956.2(PRX):c.*2241G>A
|
rs145856805 |
NM_020956.2(PRX):c.*2248C>T
|
rs56743160 |
NM_020956.2(PRX):c.*2249G>T
|
rs761277865 |
NM_020956.2(PRX):c.*2261C>A
|
rs374232032 |
NM_020956.2(PRX):c.*2276A>C
|
rs886054437 |
NM_020956.2(PRX):c.*2282C>G
|
rs758696889 |
NM_020956.2(PRX):c.*2303del
|
rs281865062 |
NM_020956.2(PRX):c.*2306G>A
|
rs116855701 |
NM_020956.2(PRX):c.*2339C>T
|
rs1463490551 |
NM_020956.2(PRX):c.*2350T>A
|
rs104894707 |
NM_020956.2(PRX):c.*2363C>T
|
rs1599653417 |
NM_020956.2(PRX):c.*2369A>G
|
rs376309142 |
NM_020956.2(PRX):c.*2414G>A
|
rs1237761863 |
NM_020956.2(PRX):c.*2420G>A
|
rs779294844 |
NM_020956.2(PRX):c.*2426C>T
|
rs1599653314 |
NM_020956.2(PRX):c.*2434C>T
|
rs144975214 |
NM_020956.2(PRX):c.*2448C>T
|
rs111252437 |
NM_020956.2(PRX):c.*2459G>A
|
rs147587689 |
NM_020956.2(PRX):c.*2487C>T
|
rs530370432 |
NM_020956.2(PRX):c.*2490A>G
|
rs202165534 |
NM_020956.2(PRX):c.*2494del
|
rs797045102 |
NM_020956.2(PRX):c.*2497C>G
|
rs142637195 |
NM_020956.2(PRX):c.*2497C>T
|
rs142637195 |
NM_020956.2(PRX):c.*2498G>A
|
rs541455813 |
NM_020956.2(PRX):c.*2498G>T
|
rs541455813 |
NM_020956.2(PRX):c.*2501G>A
|
rs763619423 |
NM_020956.2(PRX):c.*2512G>A
|
rs148655811 |
NM_020956.2(PRX):c.*2516G>C
|
rs1568706134 |
NM_020956.2(PRX):c.*2558A>G
|
rs780270731 |
NM_020956.2(PRX):c.*2645T>C
|
rs201809431 |
NM_020956.2(PRX):c.*2654C>T
|
rs147441856 |
NM_020956.2(PRX):c.*2669G>A
|
rs772009400 |
NM_020956.2(PRX):c.*2674G>A
|
rs61733450 |
NM_020956.2(PRX):c.*2699G>C
|
rs116139153 |
NM_020956.2(PRX):c.*2739C>T
|
rs750952608 |
NM_020956.2(PRX):c.*2741C>T
|
rs765595266 |
NM_020956.2(PRX):c.*2753C>G
|
rs141686828 |
NM_020956.2(PRX):c.*2756_*2757TC[1]
|
rs1599652748 |
NM_020956.2(PRX):c.*2778A>G
|
rs1017754371 |
NM_020956.2(PRX):c.*2810G>A
|
rs1555800819 |
NM_020956.2(PRX):c.*2825G>A
|
rs145790961 |
NM_020956.2(PRX):c.*2846C>A
|
rs375201649 |
NM_020956.2(PRX):c.*2846C>T
|
rs375201649 |
NM_020956.2(PRX):c.*2850T>C
|
rs268671 |
NM_020956.2(PRX):c.*2856G>A
|
rs139005780 |
NM_020956.2(PRX):c.*2860T>C
|
rs268672 |
NM_020956.2(PRX):c.*2882G>A
|
rs201270794 |
NM_020956.2(PRX):c.*2894C>T
|
rs756689732 |
NM_020956.2(PRX):c.*2895G>A
|
rs752531623 |
NM_020956.2(PRX):c.*2932C>T
|
rs61735546 |
NM_020956.2(PRX):c.*2933G>A
|
rs145203783 |
NM_020956.2(PRX):c.*2935C>T
|
rs878855283 |
NM_020956.2(PRX):c.*2936G>A
|
rs377457671 |
NM_020956.2(PRX):c.*2949A>T
|
rs899773763 |
NM_020956.2(PRX):c.*2951G>C
|
rs775152960 |
NM_020956.2(PRX):c.*2968A>G
|
rs268673 |
NM_020956.2(PRX):c.*2980C>T
|
rs201792838 |
NM_020956.2(PRX):c.*3021C>G
|
rs761769929 |
NM_020956.2(PRX):c.*3024G>A
|
rs1322545345 |
NM_020956.2(PRX):c.*3037T>C
|
rs145226687 |
NM_020956.2(PRX):c.*3058dup
|
rs1568704829 |
NM_020956.2(PRX):c.*3059G>C
|
rs1060502972 |
NM_020956.2(PRX):c.*3081T>C
|
rs1568704784 |
NM_020956.2(PRX):c.*3114G>A
|
rs764162630 |
NM_020956.2(PRX):c.*3121G>T
|
rs1555800751 |
NM_020956.2(PRX):c.*3126_*3146del
|
rs748965299 |
NM_020956.2(PRX):c.*3138A>G
|
rs767386430 |
NM_020956.2(PRX):c.*3182A>T
|
rs1234629496 |
NM_020956.2(PRX):c.*3204C>T
|
rs765924621 |
NM_020956.2(PRX):c.*3216C>T
|
rs996865233 |
NM_020956.2(PRX):c.*3219_*3220insT
|
rs1301129751 |
NM_020956.2(PRX):c.*3242G>A
|
rs548086012 |
NM_020956.2(PRX):c.*3246T>C
|
rs766119564 |
NM_020956.2(PRX):c.*3299G>A
|
rs772431799 |
NM_020956.2(PRX):c.*3315A>G
|
rs148600818 |
NM_020956.2(PRX):c.*3350G>A
|
rs186086914 |
NM_020956.2(PRX):c.*3391G>T
|
rs139188673 |
NM_020956.2(PRX):c.*3395C>T
|
rs937051533 |
NM_020956.2(PRX):c.*3413C>T
|
rs104894708 |
NM_020956.2(PRX):c.*3414G>A
|
rs146222815 |
NM_020956.2(PRX):c.*3423A>G
|
rs61733451 |
NM_020956.2(PRX):c.*3425G>A
|
rs886054436 |
NM_020956.2(PRX):c.*3443C>T
|
rs200045096 |
NM_020956.2(PRX):c.*3453C>G
|
rs3745202 |
NM_020956.2(PRX):c.*3476G>A
|
rs368459753 |
NM_020956.2(PRX):c.*3491_*3561del
|
rs1555800610 |
NM_020956.2(PRX):c.*3493C>A
|
rs375122789 |
NM_020956.2(PRX):c.*3551G>T
|
rs148075077 |
NM_020956.2(PRX):c.*3557G>A
|
rs143654708 |
NM_020956.2(PRX):c.*3557G>T
|
rs143654708 |
NM_020956.2(PRX):c.*3571G>A
|
rs952933935 |
NM_020956.2(PRX):c.*3578G>A
|
rs148939995 |
NM_020956.2(PRX):c.*3580C>T
|
rs755560307 |
NM_020956.2(PRX):c.*3581C>A
|
rs1483705612 |
NM_020956.2(PRX):c.*3599G>A
|
rs268674 |
NM_020956.2(PRX):c.*3605G>T
|
rs786204203 |
NM_020956.2(PRX):c.*3621A>G
|
rs1268527552 |
NM_020956.2(PRX):c.*3623G>A
|
rs1599651064 |
NM_020956.2(PRX):c.*3624A>T
|
rs923473427 |
NM_020956.2(PRX):c.*3652C>T
|
rs1599651000 |
NM_020956.2(PRX):c.*3701C>T
|
rs147826200 |
NM_020956.2(PRX):c.*3713G>A
|
rs759410504 |
NM_020956.2(PRX):c.*3754C>T
|
rs367876251 |
NM_020956.2(PRX):c.*3767C>A
|
rs878855284 |
NM_020956.2(PRX):c.*3767C>T
|
rs878855284 |
NM_020956.2(PRX):c.*3785C>G
|
rs149732789 |
NM_020956.2(PRX):c.*3788C>T
|
rs1555800544 |
NM_020956.2(PRX):c.*3861C>T
|
rs201393544 |
NM_020956.2(PRX):c.*3907C>T
|
rs139950446 |
NM_020956.2(PRX):c.*3908G>T
|
rs1385904344 |
NM_020956.2(PRX):c.*3912C>T
|
rs142501082 |
NM_020956.2(PRX):c.*3913G>A
|
rs202119177 |
NM_020956.2(PRX):c.*3922C>T
|
rs764955913 |
NM_020956.2(PRX):c.*3927G>A
|
rs139120811 |
NM_020956.2(PRX):c.*3974G>A
|
rs200332462 |
NM_020956.2(PRX):c.*3977_*3978delinsA
|
rs1599650427 |
NM_020956.2(PRX):c.*3980G>A
|
rs751742049 |
NM_020956.2(PRX):c.*4004G>A
|
rs542711361 |
NM_020956.2(PRX):c.*4007G>A
|
rs146061247 |
NM_020956.2(PRX):c.*4007G>C
|
rs146061247 |
NM_020956.2(PRX):c.*4009C>T
|
rs553825184 |
NM_020956.2(PRX):c.*4036C>G
|
rs577796628 |
NM_020956.2(PRX):c.*4040G>C
|
rs747247972 |
NM_020956.2(PRX):c.*4043G>C
|
rs146205352 |
NM_020956.2(PRX):c.*4050C>T
|
rs753530396 |
NM_020956.2(PRX):c.*4051G>A
|
rs143289108 |
NM_020956.2(PRX):c.*4054A>G
|
rs757247849 |
NM_020956.2(PRX):c.*4057C>T
|
rs567324732 |
NM_020956.2(PRX):c.*4058G>A
|
rs374370759 |
NM_020956.2(PRX):c.*4068A>T
|
rs1568702462 |
NM_020956.2(PRX):c.*4072C>T
|
rs759245840 |
NM_020956.2(PRX):c.*4073G>A
|
rs773955274 |
NM_020956.2(PRX):c.*4073G>T
|
rs773955274 |
NM_020956.2(PRX):c.*4091G>C
|
rs769014032 |
NM_020956.2(PRX):c.*4124C>T
|
rs752593001 |
NM_020956.2(PRX):c.*4140G>T
|
rs764644013 |
NM_020956.2(PRX):c.*4144G>A
|
rs140109585 |
NM_020956.2(PRX):c.*4152C>T
|
rs142762689 |
NM_020956.2(PRX):c.*4209G>A
|
rs1384489319 |
NM_020956.2(PRX):c.*4222C>A
|
rs758057597 |
NM_020956.2(PRX):c.*4249G>C
|
rs76088917 |
NM_020956.2(PRX):c.*4263A>C
|
rs1555800424 |
NM_020956.2(PRX):c.*4264_*4266GGA[5]
|
rs139624657 |
NM_020956.2(PRX):c.*4313C>A
|
rs371438221 |
NM_020956.2(PRX):c.*4314G>A
|
rs756687548 |
NM_020956.2(PRX):c.*4316C>T
|
rs753339248 |
NM_020956.2(PRX):c.*4317G>A
|
rs377009047 |
NM_020956.2(PRX):c.*4320G>T
|
rs751906783 |
NM_020956.2(PRX):c.*4322C>T
|
rs766729202 |
NM_020956.2(PRX):c.*4323G>A
|
rs763294661 |
NM_020956.2(PRX):c.*4326T>G
|
rs773512610 |
NM_020956.2(PRX):c.*4334C>T
|
rs768524850 |
NM_020956.2(PRX):c.*4335G>A
|
rs200835105 |
NM_020956.2(PRX):c.*4343C>T
|
rs771840476 |
NM_020956.2(PRX):c.*4357G>A
|
rs756887163 |
NM_020956.2(PRX):c.*4362C>A
|
rs372582520 |
NM_020956.2(PRX):c.*4376C>G
|
rs369072136 |
NM_020956.2(PRX):c.*4376C>T
|
rs369072136 |
NM_020956.2(PRX):c.*4401C>T
|
rs764183288 |
NM_020956.2(PRX):c.*4412G>A
|
rs139051512 |
NM_020956.2(PRX):c.*4424T>G
|
rs146468976 |
NM_020956.2(PRX):c.*4429C>G
|
rs1555800370 |
NM_020956.2(PRX):c.*4436C>T
|
rs533966999 |
NM_020956.2(PRX):c.*4437G>T
|
rs1005254872 |
NM_020956.2(PRX):c.*4449_*4451dup
|
rs771234852 |
NM_020956.2(PRX):c.*4470G>A
|
rs142436702 |
NM_020956.2(PRX):c.*4475G>A
|
rs754032938 |
NM_020956.2(PRX):c.*4475G>C
|
rs754032938 |
NM_020956.2(PRX):c.*4506G>A
|
rs759435622 |
NM_020956.2(PRX):c.*4509T>C
|
rs878855285 |
NM_020956.2(PRX):c.*4512G>A
|
rs368827070 |
NM_020956.2(PRX):c.*4522C>T
|
rs372280596 |
NM_020956.2(PRX):c.*4523G>A
|
rs138437458 |
NM_020956.2(PRX):c.*4538A>G
|
rs368067072 |
NM_020956.2(PRX):c.*4554C>T
|
rs369949312 |
NM_020956.2(PRX):c.*4571G>C
|
rs149093940 |
NM_020956.2(PRX):c.*4581C>T
|
rs373051724 |
NM_020956.2(PRX):c.*4735C>T
|
rs189487790 |
NM_020956.2(PRX):c.*4743A>G
|
rs886054435 |
NM_020956.2(PRX):c.*590_*599dup
|
rs1599656972 |
NM_020956.2(PRX):c.*650G>A
|
rs142436391 |
NM_020956.2(PRX):c.*662C>T
|
rs760295364 |
NM_020956.2(PRX):c.*666T>C
|
rs1555801518 |
NM_020956.2(PRX):c.*674G>A
|
rs149219327 |
NM_020956.2(PRX):c.*676G>A
|
rs4803335 |
NM_020956.2(PRX):c.*683_*697del
|
rs1555801508 |
NM_020956.2(PRX):c.*690A>C
|
rs879254072 |
NM_020956.2(PRX):c.*698C>T
|
rs555499679 |
NM_020956.2(PRX):c.*704C>T
|
rs10425452 |
NM_020956.2(PRX):c.*705G>A
|
rs757322355 |
NM_020956.2(PRX):c.*705G>C
|
rs757322355 |
NM_020956.2(PRX):c.*707C>T
|
rs374193988 |
NM_020956.2(PRX):c.*708G>A
|
rs763833871 |
NM_020956.2(PRX):c.*714T>C
|
rs1387520113 |
NM_020956.2(PRX):c.*744C>T
|
rs540526276 |
NM_020956.2(PRX):c.*745G>A
|
rs371243093 |
NM_020956.2(PRX):c.*759G>A
|
rs76756143 |
NM_020956.2(PRX):c.*764C>T
|
rs768929130 |
NM_020956.2(PRX):c.*785C>T
|
rs45521038 |
NM_020956.2(PRX):c.*791C>T
|
rs104894706 |
NM_020956.2(PRX):c.*792G>C
|
rs757381967 |
NM_020956.2(PRX):c.*794G>T
|
rs753857146 |
NM_020956.2(PRX):c.*802C>G
|
rs144157275 |
NM_020956.2(PRX):c.*802C>T
|
rs144157275 |
NM_020956.2(PRX):c.*820_*821delinsTT
|
rs1568709522 |
NM_020956.2(PRX):c.*833G>A
|
rs775981300 |
NM_020956.2(PRX):c.*836G>T
|
rs112973322 |
NM_020956.2(PRX):c.*839C>A
|
rs771156102 |
NM_020956.2(PRX):c.*846C>G
|
rs368874138 |
NM_020956.2(PRX):c.*847C>A
|
rs551628239 |
NM_020956.2(PRX):c.*878G>T
|
rs754734195 |
NM_020956.2(PRX):c.*887C>G
|
rs751238438 |
NM_020956.2(PRX):c.*887C>T
|
rs751238438 |
NM_020956.2(PRX):c.*888G>A
|
rs562108874 |
NM_020956.2(PRX):c.*921C>T
|
rs528907584 |
NM_020956.2(PRX):c.*923C>T
|
rs199863083 |
NM_020956.2(PRX):c.*924G>A
|
rs77917609 |
NM_020956.2(PRX):c.*932G>A
|
rs774726424 |
NM_020956.2(PRX):c.*935G>A
|
rs771211272 |
NM_020956.2(PRX):c.*936C>T
|
rs118071705 |
NM_020956.2(PRX):c.*945G>A
|
rs1568709200 |
NM_020956.2(PRX):c.*952C>T
|
rs3814289 |
NM_020956.2(PRX):c.*976C>T
|
rs1555801357 |
NM_020956.2(PRX):c.*978_*979dup
|
rs1599656136 |
NM_020956.2(PRX):c.*999G>T
|
rs374837022 |
NM_020956.2(PRX):c.-114T>G
|
rs367716653 |
NM_020956.2(PRX):c.-143G>A
|
rs559995627 |
NM_020956.2(PRX):c.-160C>T
|
rs763423646 |
NM_020956.2(PRX):c.-198-14C>T
|
rs886054442 |
NM_020956.2(PRX):c.-199+7G>C
|
rs541213273 |
NM_020956.2(PRX):c.-20A>C
|
rs780315081 |
NM_020956.2(PRX):c.-236G>A
|
rs552436076 |
NM_020956.2(PRX):c.102A>C (p.Val34=)
|
rs761347226 |
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
|
rs1599662861 |
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
|
rs1599662837 |
NM_020956.2(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201 |
NM_020956.2(PRX):c.13A>G (p.Ser5Gly)
|
rs767350599 |
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
|
rs1024162447 |
NM_020956.2(PRX):c.15C>G (p.Ser5Arg)
|
rs1408677034 |
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669 |
NM_020956.2(PRX):c.176T>C (p.Leu59Pro)
|
rs748318191 |
NM_020956.2(PRX):c.185-6C>T
|
rs747043680 |
NM_020956.2(PRX):c.185-8G>A
|
rs768814221 |
NM_020956.2(PRX):c.185-9C>T
|
rs1555801635 |
NM_020956.2(PRX):c.200G>A (p.Ser67Asn)
|
rs1568710768 |
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)
|
rs752192677 |
NM_020956.2(PRX):c.237C>T (p.Asp79=)
|
rs376174896 |
NM_020956.2(PRX):c.247del (p.Leu83fs)
|
rs281865061 |
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
|
rs1599657876 |
NM_020956.2(PRX):c.256T>C (p.Cys86Arg)
|
rs765676916 |
NM_020956.2(PRX):c.27+8C>A
|
rs769214562 |
NM_020956.2(PRX):c.281_283del (p.Phe94del)
|
rs1424434006 |
NM_020956.2(PRX):c.296C>T (p.Thr99Ile)
|
rs561203828 |
NM_020956.2(PRX):c.306C>T (p.Thr102=)
|
rs744389 |
NM_020956.2(PRX):c.335T>C (p.Val112Ala)
|
rs760944190 |
NM_020956.2(PRX):c.336G>A (p.Val112=)
|
rs369268369 |
NM_020956.2(PRX):c.353del (p.Lys118fs)
|
rs1568710514 |
NM_020956.2(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566 |
NM_020956.2(PRX):c.379C>T (p.Leu127=)
|
rs886054441 |
NM_020956.2(PRX):c.62T>C (p.Val21Ala)
|
rs1167676481 |
NM_020956.2(PRX):c.74C>A (p.Ala25Glu)
|
rs1555802182 |
NM_020956.2(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750 |
NM_181882.3(PRX):c.*168C>A
|
|
NM_181882.3(PRX):c.*45C>T
|
|
NM_181882.3(PRX):c.-100+10C>T
|
|
NM_181882.3(PRX):c.104C>A (p.Ala35Glu)
|
rs138047753 |
NM_181882.3(PRX):c.1077C>G (p.Arg359=)
|
|
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
|
|
NM_181882.3(PRX):c.1113A>G (p.Glu371=)
|
rs137930942 |
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
|
|
NM_181882.3(PRX):c.1173del (p.Arg392fs)
|
rs757771239 |
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
|
|
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser)
|
|
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg)
|
|
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
|
|
NM_181882.3(PRX):c.122del (p.Gly41fs)
|
|
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
|
|
NM_181882.3(PRX):c.1300G>C (p.Val434Leu)
|
|
NM_181882.3(PRX):c.1308G>A (p.Val436=)
|
rs771496284 |
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
|
|
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr)
|
|
NM_181882.3(PRX):c.134G>C (p.Arg45Pro)
|
|
NM_181882.3(PRX):c.138G>C (p.Glu46Asp)
|
|
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu)
|
|
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
|
|
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp)
|
|
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3])
|
|
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
|
|
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
|
|
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
|
rs1224453835 |
NM_181882.3(PRX):c.1529T>C (p.Met510Thr)
|
|
NM_181882.3(PRX):c.1539G>A (p.Pro513=)
|
rs187786861 |
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
|
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe)
|
|
NM_181882.3(PRX):c.1558G>A (p.Val520Ile)
|
|
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
|
|
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del)
|
|
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
|
NM_181882.3(PRX):c.1638A>G (p.Val546=)
|
|
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del)
|
|
NM_181882.3(PRX):c.1647G>C (p.Pro549=)
|
rs202113722 |
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
|
|
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
|
|
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
|
|
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
|
|
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
|
|
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
|
|
NM_181882.3(PRX):c.16C>T (p.Arg6Trp)
|
|
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln)
|
|
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe)
|
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
|
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
|
|
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
|
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
|
|
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
|
|
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
|
|
NM_181882.3(PRX):c.184+2T>C
|
|
NM_181882.3(PRX):c.184+3G>T
|
|
NM_181882.3(PRX):c.184G>A (p.Gly62Arg)
|
|
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
|
|
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly)
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
|
NM_181882.3(PRX):c.1869T>G (p.Leu623=)
|
|
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del)
|
|
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg)
|
|
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys)
|
|
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
|
|
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg)
|
|
NM_181882.3(PRX):c.1980G>T (p.Pro660=)
|
rs777413169 |
NM_181882.3(PRX):c.1986C>T (p.Val662=)
|
|
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly)
|
|
NM_181882.3(PRX):c.1993A>G (p.Met665Val)
|
|
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)
|
rs761277865 |
NM_181882.3(PRX):c.2047G>A (p.Val683Met)
|
rs575075163 |
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr)
|
|
NM_181882.3(PRX):c.2100C>T (p.Ala700=)
|
rs757528702 |
NM_181882.3(PRX):c.2106C>T (p.Pro702=)
|
rs183461864 |
NM_181882.3(PRX):c.2113C>T (p.His705Tyr)
|
|
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu)
|
|
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
|
|
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe)
|
|
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
|
|
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
|
|
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp)
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
|
NM_181882.3(PRX):c.2267C>T (p.Pro756Leu)
|
|
NM_181882.3(PRX):c.2274G>T (p.Met758Ile)
|
|
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg)
|
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
|
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
|
|
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
|
|
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
|
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
|
|
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly)
|
|
NM_181882.3(PRX):c.236A>T (p.Asp79Val)
|
|
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
|
|
NM_181882.3(PRX):c.2421del (p.Lys808fs)
|
rs1599652935 |
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
|
|
NM_181882.3(PRX):c.2425C>T (p.Leu809=)
|
rs145272609 |
NM_181882.3(PRX):c.2432G>T (p.Arg811Met)
|
|
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg)
|
|
NM_181882.3(PRX):c.2463C>T (p.Gly821=)
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
|
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)
|
|
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro)
|
|
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg)
|
|
NM_181882.3(PRX):c.2611G>C (p.Val871Leu)
|
rs754359052 |
NM_181882.3(PRX):c.2612T>C (p.Val871Ala)
|
rs201389706 |
NM_181882.3(PRX):c.2628G>A (p.Met876Ile)
|
|
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
|
|
NM_181882.3(PRX):c.2697C>T (p.Pro899=)
|
|
NM_181882.3(PRX):c.27+1G>T
|
|
NM_181882.3(PRX):c.2707A>G (p.Ile903Val)
|
rs941768924 |
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166 |
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
|
|
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro)
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978 |
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr)
|
|
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
|
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714 |
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
|
|
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp)
|
|
NM_181882.3(PRX):c.2942G>T (p.Gly981Val)
|
|
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
|
|
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
|
|
NM_181882.3(PRX):c.300G>A (p.Val100=)
|
|
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg)
|
|
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
|
|
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)
|
rs1599651726 |
NM_181882.3(PRX):c.3099del (p.Glu1034fs)
|
rs1599651707 |
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
|
|
NM_181882.3(PRX):c.3237T>C (p.Asp1079=)
|
rs774823527 |
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
|
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
|
|
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp)
|
|
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly)
|
|
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe)
|
|
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys)
|
|
NM_181882.3(PRX):c.3294G>A (p.Glu1098=)
|
rs1599651349 |
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
|
|
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
|
|
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)
|
|
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
|
|
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp)
|
|
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)
|
|
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
|
|
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
|
|
NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile)
|
|
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
|
|
NM_181882.3(PRX):c.3531A>G (p.Ala1177=)
|
rs1465687338 |
NM_181882.3(PRX):c.3588A>G (p.Gly1196=)
|
rs372745419 |
NM_181882.3(PRX):c.358C>A (p.Pro120Thr)
|
|
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys)
|
|
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
|
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val)
|
|
NM_181882.3(PRX):c.370G>A (p.Val124Met)
|
|
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
|
|
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
|
|
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
|
|
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
|
NM_181882.3(PRX):c.381+22C>A
|
rs1316795222 |
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
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NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp)
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NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
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rs765769524 |
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
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NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
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NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala)
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rs754692947 |
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)
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NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
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NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
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rs781159482 |
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
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NM_181882.3(PRX):c.4030G>A (p.Val1344Ile)
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NM_181882.3(PRX):c.4050del (p.Ser1351fs)
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NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup)
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rs139624657 |
NM_181882.3(PRX):c.407AGA[3] (p.Lys139del)
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NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn)
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NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
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NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu)
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NM_181882.3(PRX):c.4119_4124GGTCCG[3] (p.1374_1375VR[3])
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rs748943829 |
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
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NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr)
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NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
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NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn)
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rs566745894 |
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
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NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
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NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)
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NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp)
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NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp)
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NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala)
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rs770666481 |
NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile)
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NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser)
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NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
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NM_181882.3(PRX):c.445G>T (p.Ala149Ser)
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NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
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NM_181882.3(PRX):c.458del (p.Pro153fs)
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rs1599656851 |
NM_181882.3(PRX):c.464A>T (p.Asp155Val)
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NM_181882.3(PRX):c.466G>A (p.Val156Ile)
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NM_181882.3(PRX):c.553C>T (p.Arg185Cys)
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NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
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NM_181882.3(PRX):c.557G>A (p.Arg186Gln)
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NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
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NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
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NM_181882.3(PRX):c.598G>A (p.Glu200Lys)
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NM_181882.3(PRX):c.59T>C (p.Ile20Thr)
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NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
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NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
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NM_181882.3(PRX):c.624C>T (p.Ala208=)
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rs777019611 |
NM_181882.3(PRX):c.627del (p.Ala210fs)
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rs1599656507 |
NM_181882.3(PRX):c.631G>A (p.Ala211Thr)
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rs112973322 |
NM_181882.3(PRX):c.641C>A (p.Pro214His)
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NM_181882.3(PRX):c.642dup (p.Arg215fs)
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rs768074428 |
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
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NM_181882.3(PRX):c.717G>T (p.Pro239=)
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rs761293957 |
NM_181882.3(PRX):c.730del (p.Ala244fs)
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rs1599656243 |
NM_181882.3(PRX):c.732G>A (p.Ala244=)
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rs769735682 |
NM_181882.3(PRX):c.793G>A (p.Gly265Ser)
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NM_181882.3(PRX):c.800C>T (p.Ala267Val)
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NM_181882.3(PRX):c.825C>T (p.Leu275=)
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NM_181882.3(PRX):c.82G>A (p.Gly28Arg)
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NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
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NM_181882.3(PRX):c.844G>C (p.Ala282Pro)
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NM_181882.3(PRX):c.861C>T (p.Ala287=)
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NM_181882.3(PRX):c.886G>A (p.Glu296Lys)
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NM_181882.3(PRX):c.899T>C (p.Leu300Ser)
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rs748380935 |
NM_181882.3(PRX):c.934C>T (p.Leu312=)
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rs369792380 |
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
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NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
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rs577197549 |
NM_181882.3(PRX):c.959C>T (p.Ser320Leu)
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