ClinVar Miner

List of variants in gene PRPF8

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Gene type:
ClinVar version:
Total variants: 1519
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.891T>C (p.Asn297=) rs7503397 0.31150
NM_006445.4(PRPF8):c.3774+6G>A rs11078563 0.31089
NM_006445.4(PRPF8):c.1914C>G (p.Leu638=) rs11078565 0.31074
NM_006445.4(PRPF8):c.2847G>A (p.Pro949=) rs33965342 0.29624
NM_006445.4(PRPF8):c.637T>C (p.Leu213=) rs11559305 0.27527
NM_006445.4(PRPF8):c.6588T>C (p.His2196=) rs1802491 0.21248
NM_006445.4(PRPF8):c.3775-14T>C rs3814969 0.17793
NM_006445.4(PRPF8):c.4639-17T>G rs73976249 0.04914
NM_006445.4(PRPF8):c.3939G>A (p.Pro1313=) rs35169383 0.02787
NM_006445.4(PRPF8):c.6294G>A (p.Lys2098=) rs11559309 0.02784
NM_006445.4(PRPF8):c.4639-13G>A rs62088058 0.02780
NM_006445.4(PRPF8):c.993-7A>G rs62089988 0.02527
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01464
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265 0.01452
NM_006445.4(PRPF8):c.1855-13C>T rs16951135 0.01407
NM_006445.4(PRPF8):c.2409G>A (p.Ala803=) rs114284408 0.01227
NM_006445.4(PRPF8):c.3061-11T>G rs11652160 0.01070
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_006445.4(PRPF8):c.101-3C>T rs75670228 0.00453
NM_006445.4(PRPF8):c.4503T>C (p.Leu1501=) rs34536905 0.00369
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) rs143237388 0.00343
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_006445.4(PRPF8):c.1666C>T (p.Leu556=) rs139305061 0.00208
NM_006445.4(PRPF8):c.1929C>T (p.Gly643=) rs140040625 0.00207
NM_006445.4(PRPF8):c.5619+16G>C rs143752933 0.00198
NM_006445.4(PRPF8):c.3447-12C>T rs148435449 0.00138
NM_006445.4(PRPF8):c.1289+13C>T rs199729224 0.00135
NM_006445.4(PRPF8):c.5466C>T (p.Ile1822=) rs192097342 0.00127
NM_006445.4(PRPF8):c.52C>T (p.Leu18=) rs148531352 0.00121
NM_006445.4(PRPF8):c.*125G>A rs151045703 0.00110
NM_006445.4(PRPF8):c.992+18C>A rs375914297 0.00109
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
NM_006445.4(PRPF8):c.6227+8C>T rs369076508 0.00099
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_006445.4(PRPF8):c.6834G>A (p.Ser2278=) rs147050234 0.00076
NM_006445.4(PRPF8):c.6382C>T (p.Leu2128=) rs138076455 0.00069
NM_006445.4(PRPF8):c.4674G>A (p.Thr1558=) rs140446903 0.00062
NM_006445.4(PRPF8):c.5748C>T (p.Leu1916=) rs34024815 0.00057
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_006445.4(PRPF8):c.2298T>C (p.Thr766=) rs141736972 0.00041
NM_006445.4(PRPF8):c.1720-7A>G rs200224854 0.00039
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=) rs144851263 0.00039
NM_006445.4(PRPF8):c.6854-3A>C rs374387787 0.00039
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) rs75163090 0.00035
NM_006445.4(PRPF8):c.2601C>T (p.Ile867=) rs117892584 0.00034
NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=) rs151214963 0.00034
NM_006445.4(PRPF8):c.4464A>T (p.Thr1488=) rs11559308 0.00033
NM_006445.4(PRPF8):c.4689C>T (p.His1563=) rs148287873 0.00031
NM_006445.4(PRPF8):c.4339-20G>A rs376308412 0.00029
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141 0.00027
NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=) rs142499204 0.00027
NM_006445.4(PRPF8):c.4022+15A>G rs370376159 0.00025
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_006445.4(PRPF8):c.1855-4G>A rs201225203 0.00024
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) rs200389505 0.00024
NM_006445.4(PRPF8):c.5138+5G>C rs377003550 0.00024
NM_006445.4(PRPF8):c.3446+15G>C rs372843514 0.00020
NM_006445.4(PRPF8):c.1896C>T (p.Ala632=) rs147360297 0.00019
NM_006445.4(PRPF8):c.3657+13C>T rs141542320 0.00019
NM_006445.4(PRPF8):c.389A>G (p.Asn130Ser) rs201671566 0.00019
NM_006445.4(PRPF8):c.5838C>T (p.Asn1946=) rs150521800 0.00019
NM_006445.4(PRPF8):c.6900C>T (p.Asn2300=) rs141762321 0.00019
NM_006445.4(PRPF8):c.-68C>T rs761491187 0.00017
NM_006445.4(PRPF8):c.3633C>T (p.Asp1211=) rs148599874 0.00017
NM_006445.4(PRPF8):c.4770T>C (p.Val1590=) rs200900604 0.00017
NM_006445.4(PRPF8):c.5139-3C>T rs368768581 0.00016
NM_006445.4(PRPF8):c.5139-5C>T rs373748235 0.00016
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=) rs372925838 0.00016
NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=) rs200741294 0.00016
NM_006445.4(PRPF8):c.5794-11T>C rs187602609 0.00015
NM_006445.4(PRPF8):c.37C>G (p.Pro13Ala) rs371898516 0.00013
NM_006445.4(PRPF8):c.2400C>T (p.Tyr800=) rs148023159 0.00012
NM_006445.4(PRPF8):c.3615G>A (p.Glu1205=) rs377201730 0.00012
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=) rs727504109 0.00011
NM_006445.4(PRPF8):c.3657+4C>T rs200104174 0.00011
NM_006445.4(PRPF8):c.4788G>T (p.Val1596=) rs372637964 0.00011
NM_006445.4(PRPF8):c.5506-14C>A rs374511182 0.00011
NM_006445.4(PRPF8):c.5763C>T (p.Asp1921=) rs754219198 0.00011
NM_006445.4(PRPF8):c.1095C>A (p.Val365=) rs146559291 0.00010
NM_006445.4(PRPF8):c.434+18_434+20del rs755705608 0.00010
NM_006445.4(PRPF8):c.5022C>T (p.His1674=) rs185936129 0.00010
NM_006445.4(PRPF8):c.1290-14G>A rs759345933 0.00009
NM_006445.4(PRPF8):c.1409+13A>G rs763003164 0.00009
NM_006445.4(PRPF8):c.283A>G (p.Met95Val) rs373157040 0.00009
NM_006445.4(PRPF8):c.3888G>A (p.Gln1296=) rs190038670 0.00009
NM_006445.4(PRPF8):c.3975C>T (p.Leu1325=) rs375341985 0.00009
NM_006445.4(PRPF8):c.4202+19A>G rs1279339161 0.00009
NM_006445.4(PRPF8):c.5377-12G>A rs202224982 0.00009
NM_006445.4(PRPF8):c.5646T>C (p.Ile1882=) rs774213700 0.00008
NM_006445.4(PRPF8):c.6057G>A (p.Pro2019=) rs752420082 0.00008
NM_006445.4(PRPF8):c.653+17G>A rs187587793 0.00008
NM_006445.4(PRPF8):c.101-18A>G rs761711970 0.00007
NM_006445.4(PRPF8):c.1225C>A (p.Arg409=) rs772116221 0.00007
NM_006445.4(PRPF8):c.249T>C (p.His83=) rs371947480 0.00007
NM_006445.4(PRPF8):c.3060+19A>G rs554518031 0.00007
NM_006445.4(PRPF8):c.3915C>T (p.Ser1305=) rs543677212 0.00007
NM_006445.4(PRPF8):c.4461C>T (p.His1487=) rs185616460 0.00007
NM_006445.4(PRPF8):c.4644T>C (p.Tyr1548=) rs778783099 0.00007
NM_006445.4(PRPF8):c.5919C>T (p.Asp1973=) rs756762367 0.00007
NM_006445.4(PRPF8):c.5987+13G>T rs780394177 0.00007
NM_006445.4(PRPF8):c.*11G>T rs767915818 0.00006
NM_006445.4(PRPF8):c.1221C>T (p.Ala407=) rs374996889 0.00006
NM_006445.4(PRPF8):c.2385G>C (p.Leu795=) rs769845398 0.00006
NM_006445.4(PRPF8):c.3658-18C>T rs372316053 0.00006
NM_006445.4(PRPF8):c.384C>T (p.Phe128=) rs759914879 0.00006
NM_006445.4(PRPF8):c.4203-13C>G rs773940528 0.00006
NM_006445.4(PRPF8):c.471T>C (p.Asp157=) rs367680994 0.00006
NM_006445.4(PRPF8):c.5164A>G (p.Ser1722Gly) rs201280111 0.00006
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006445.4(PRPF8):c.6111G>A (p.Ser2037=) rs138631648 0.00006
NM_006445.4(PRPF8):c.6511-3T>C rs199665387 0.00006
NM_006445.4(PRPF8):c.6630G>A (p.Lys2210=) rs373805624 0.00006
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_006445.4(PRPF8):c.786C>T (p.Ala262=) rs377322941 0.00006
NM_006445.4(PRPF8):c.1410-9C>T rs781299375 0.00005
NM_006445.4(PRPF8):c.1437C>T (p.Thr479=) rs148762165 0.00005
NM_006445.4(PRPF8):c.1503C>T (p.Tyr501=) rs761806968 0.00005
NM_006445.4(PRPF8):c.1984+20T>G rs201075438 0.00005
NM_006445.4(PRPF8):c.2391C>T (p.Asp797=) rs773709989 0.00005
NM_006445.4(PRPF8):c.2613C>T (p.Tyr871=) rs764282969 0.00005
NM_006445.4(PRPF8):c.3447-7T>G rs183157212 0.00005
NM_006445.4(PRPF8):c.434+3G>A rs372997528 0.00005
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=) rs140315637 0.00005
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) rs753995574 0.00005
NM_006445.4(PRPF8):c.103C>A (p.Arg35=) rs144810783 0.00004
NM_006445.4(PRPF8):c.1116G>A (p.Pro372=) rs376645217 0.00004
NM_006445.4(PRPF8):c.1290-18G>C rs370889253 0.00004
NM_006445.4(PRPF8):c.1600-4C>T rs1008334948 0.00004
NM_006445.4(PRPF8):c.1855-19C>T rs367780471 0.00004
NM_006445.4(PRPF8):c.2182-3T>C rs368609533 0.00004
NM_006445.4(PRPF8):c.2389-10C>T rs766724833 0.00004
NM_006445.4(PRPF8):c.2478A>G (p.Pro826=) rs140454139 0.00004
NM_006445.4(PRPF8):c.2517C>T (p.Leu839=) rs537936200 0.00004
NM_006445.4(PRPF8):c.271G>T (p.Ala91Ser) rs760143576 0.00004
NM_006445.4(PRPF8):c.3042C>T (p.Asn1014=) rs776402069 0.00004
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=) rs770535800 0.00004
NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=) rs370510856 0.00004
NM_006445.4(PRPF8):c.439A>G (p.Met147Val) rs777421010 0.00004
NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn) rs759664867 0.00004
NM_006445.4(PRPF8):c.4947-5C>T rs190909610 0.00004
NM_006445.4(PRPF8):c.5898C>T (p.His1966=) rs761657389 0.00004
NM_006445.4(PRPF8):c.6000A>G (p.Ala2000=) rs745954222 0.00004
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) rs373131838 0.00004
NM_006445.4(PRPF8):c.6511-15C>G rs756317920 0.00004
NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=) rs759598868 0.00004
NM_006445.4(PRPF8):c.678G>A (p.Gln226=) rs1050533985 0.00004
NM_006445.4(PRPF8):c.6999G>A (p.Leu2333=) rs780039925 0.00004
NM_006445.4(PRPF8):c.74T>C (p.Met25Thr) rs537516822 0.00004
NM_006445.4(PRPF8):c.*167A>G rs753906300 0.00003
NM_006445.4(PRPF8):c.100+11A>T rs368042455 0.00003
NM_006445.4(PRPF8):c.100+16G>A rs755028308 0.00003
NM_006445.4(PRPF8):c.1224G>A (p.Pro408=) rs372154040 0.00003
NM_006445.4(PRPF8):c.1240C>T (p.Arg414Cys) rs368865707 0.00003
NM_006445.4(PRPF8):c.1260G>A (p.Arg420=) rs182482795 0.00003
NM_006445.4(PRPF8):c.1284G>A (p.Lys428=) rs201614691 0.00003
NM_006445.4(PRPF8):c.1420C>T (p.Arg474Cys) rs755296299 0.00003
NM_006445.4(PRPF8):c.1515C>T (p.Asn505=) rs147326078 0.00003
NM_006445.4(PRPF8):c.1683C>T (p.His561=) rs762182657 0.00003
NM_006445.4(PRPF8):c.2619C>T (p.Asn873=) rs760867601 0.00003
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=) rs779910932 0.00003
NM_006445.4(PRPF8):c.3018C>T (p.Ala1006=) rs192274713 0.00003
NM_006445.4(PRPF8):c.3519C>T (p.Ser1173=) rs946428991 0.00003
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile) rs548682365 0.00003
NM_006445.4(PRPF8):c.3864G>T (p.Leu1288=) rs994699181 0.00003
NM_006445.4(PRPF8):c.4371C>T (p.His1457=) rs561450304 0.00003
NM_006445.4(PRPF8):c.4752G>A (p.Lys1584=) rs374213138 0.00003
NM_006445.4(PRPF8):c.4947-11T>A rs373613036 0.00003
NM_006445.4(PRPF8):c.5067C>T (p.Thr1689=) rs370632981 0.00003
NM_006445.4(PRPF8):c.5139-8C>T rs778027102 0.00003
NM_006445.4(PRPF8):c.5376+6_5376+9del rs773108151 0.00003
NM_006445.4(PRPF8):c.56C>T (p.Ala19Val) rs763069309 0.00003
NM_006445.4(PRPF8):c.5706C>T (p.Phe1902=) rs780644602 0.00003
NM_006445.4(PRPF8):c.6165C>T (p.Ile2055=) rs541977582 0.00003
NM_006445.4(PRPF8):c.6228-20C>T rs370339344 0.00003
NM_006445.4(PRPF8):c.623A>G (p.Tyr208Cys) rs1335593452 0.00003
NM_006445.4(PRPF8):c.6370-15C>T rs764446336 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006445.4(PRPF8):c.6558G>A (p.Pro2186=) rs551070373 0.00003
NM_006445.4(PRPF8):c.6645A>G (p.Thr2215=) rs143748924 0.00003
NM_006445.4(PRPF8):c.6768T>C (p.Tyr2256=) rs746132385 0.00003
NM_006445.4(PRPF8):c.6918C>T (p.His2306=) rs756489004 0.00003
NM_006445.4(PRPF8):c.72C>T (p.Tyr24=) rs557206853 0.00003
NM_006445.4(PRPF8):c.890A>G (p.Asn297Ser) rs765145210 0.00003
NM_006445.4(PRPF8):c.984C>T (p.His328=) rs201432773 0.00003
NM_006445.4(PRPF8):c.*36C>G rs776962939 0.00002
NM_006445.4(PRPF8):c.-24G>A rs886052619 0.00002
NM_006445.4(PRPF8):c.1075A>G (p.Ile359Val) rs762565821 0.00002
NM_006445.4(PRPF8):c.1142C>T (p.Pro381Leu) rs745441870 0.00002
NM_006445.4(PRPF8):c.1235A>G (p.Asn412Ser) rs778586970 0.00002
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=) rs747870802 0.00002
NM_006445.4(PRPF8):c.1422C>T (p.Arg474=) rs370487757 0.00002
NM_006445.4(PRPF8):c.1698G>A (p.Leu566=) rs764769128 0.00002
NM_006445.4(PRPF8):c.1985-14C>T rs1464006138 0.00002
NM_006445.4(PRPF8):c.2025G>A (p.Gln675=) rs763955274 0.00002
NM_006445.4(PRPF8):c.2181+18T>G rs746328805 0.00002
NM_006445.4(PRPF8):c.2181+9C>G rs1597246171 0.00002
NM_006445.4(PRPF8):c.2184C>G (p.Val728=) rs746379730 0.00002
NM_006445.4(PRPF8):c.2634G>A (p.Leu878=) rs759657903 0.00002
NM_006445.4(PRPF8):c.2679G>A (p.Glu893=) rs1004311291 0.00002
NM_006445.4(PRPF8):c.269+14T>C rs772763493 0.00002
NM_006445.4(PRPF8):c.3009C>T (p.His1003=) rs149785500 0.00002
NM_006445.4(PRPF8):c.3060+13C>T rs745975141 0.00002
NM_006445.4(PRPF8):c.3118A>G (p.Ile1040Val) rs749932316 0.00002
NM_006445.4(PRPF8):c.3280C>T (p.Arg1094Cys) rs1029078582 0.00002
NM_006445.4(PRPF8):c.3333A>G (p.Gln1111=) rs200478727 0.00002
NM_006445.4(PRPF8):c.3446+9A>G rs774104474 0.00002
NM_006445.4(PRPF8):c.3456G>A (p.Ala1152=) rs766093345 0.00002
NM_006445.4(PRPF8):c.3576C>T (p.Phe1192=) rs574003170 0.00002
NM_006445.4(PRPF8):c.3611A>G (p.Tyr1204Cys) rs558538478 0.00002
NM_006445.4(PRPF8):c.4002C>T (p.Leu1334=) rs779498788 0.00002
NM_006445.4(PRPF8):c.4431C>T (p.Ala1477=) rs1431727140 0.00002
NM_006445.4(PRPF8):c.4508+17C>T rs771345171 0.00002
NM_006445.4(PRPF8):c.4785+14G>A rs111881129 0.00002
NM_006445.4(PRPF8):c.5138+13T>C rs755567359 0.00002
NM_006445.4(PRPF8):c.525C>T (p.Pro175=) rs1192050207 0.00002
NM_006445.4(PRPF8):c.5376+6T>C rs369576067 0.00002
NM_006445.4(PRPF8):c.5794-5C>T rs374747769 0.00002
NM_006445.4(PRPF8):c.5865G>A (p.Lys1955=) rs372176601 0.00002
NM_006445.4(PRPF8):c.5987+3G>T rs368882006 0.00002
NM_006445.4(PRPF8):c.5987+7A>G rs747601595 0.00002
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=) rs374672916 0.00002
NM_006445.4(PRPF8):c.6147G>A (p.Lys2049=) rs774814974 0.00002
NM_006445.4(PRPF8):c.6227+16A>G rs992224221 0.00002
NM_006445.4(PRPF8):c.6227+9G>A rs780136000 0.00002
NM_006445.4(PRPF8):c.654-18C>G rs1023681172 0.00002
NM_006445.4(PRPF8):c.6651-13G>A rs765105762 0.00002
NM_006445.4(PRPF8):c.6696C>T (p.Pro2232=) rs760241443 0.00002
NM_006445.4(PRPF8):c.6896C>T (p.Ala2299Val) rs747942696 0.00002
NM_006445.4(PRPF8):c.6908A>G (p.Glu2303Gly) rs779481846 0.00002
NM_006445.4(PRPF8):c.*72C>A rs758889910 0.00001
NM_006445.4(PRPF8):c.-30T>C rs886052620 0.00001
NM_006445.4(PRPF8):c.-62G>T rs886052622 0.00001
NM_006445.4(PRPF8):c.-74C>T rs886052623 0.00001
NM_006445.4(PRPF8):c.1017C>T (p.Phe339=) rs751142210 0.00001
NM_006445.4(PRPF8):c.1082A>G (p.His361Arg) rs1236924890 0.00001
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_006445.4(PRPF8):c.1115C>T (p.Pro372Leu) rs144200305 0.00001
NM_006445.4(PRPF8):c.1120G>C (p.Asp374His) rs1336664460 0.00001
NM_006445.4(PRPF8):c.1153G>A (p.Glu385Lys) rs1912806461 0.00001
NM_006445.4(PRPF8):c.1215C>G (p.Leu405=) rs151269743 0.00001
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=) rs886052615 0.00001
NM_006445.4(PRPF8):c.1295G>A (p.Arg432Gln) rs1487240808 0.00001
NM_006445.4(PRPF8):c.1362T>C (p.Tyr454=) rs1161544833 0.00001
NM_006445.4(PRPF8):c.1385G>A (p.Arg462Gln) rs1278088065 0.00001
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=) rs751438136 0.00001
NM_006445.4(PRPF8):c.1410-19C>G rs574115002 0.00001
NM_006445.4(PRPF8):c.1476T>G (p.Val492=) rs765148447 0.00001
NM_006445.4(PRPF8):c.1521C>T (p.Leu507=) rs1375791000 0.00001
NM_006445.4(PRPF8):c.1587G>A (p.Thr529=) rs375769366 0.00001
NM_006445.4(PRPF8):c.1599+19A>G rs537500514 0.00001
NM_006445.4(PRPF8):c.1600-16T>C rs376987717 0.00001
NM_006445.4(PRPF8):c.1600-6C>G rs1362308988 0.00001
NM_006445.4(PRPF8):c.16C>T (p.Pro6Ser) rs779716922 0.00001
NM_006445.4(PRPF8):c.1712C>G (p.Ala571Gly) rs1912748763 0.00001
NM_006445.4(PRPF8):c.1719+4A>G rs774567975 0.00001
NM_006445.4(PRPF8):c.1767G>A (p.Thr589=) rs773010544 0.00001
NM_006445.4(PRPF8):c.187C>T (p.Pro63Ser) rs374410261 0.00001
NM_006445.4(PRPF8):c.1985-8A>G rs757526364 0.00001
NM_006445.4(PRPF8):c.2052G>A (p.Glu684=) rs760330439 0.00001
NM_006445.4(PRPF8):c.2142T>C (p.Ser714=) rs1310835135 0.00001
NM_006445.4(PRPF8):c.2175C>T (p.Pro725=) rs1423976610 0.00001
NM_006445.4(PRPF8):c.2198C>T (p.Thr733Met) rs771458093 0.00001
NM_006445.4(PRPF8):c.2200C>T (p.Pro734Ser) rs1424625471 0.00001
NM_006445.4(PRPF8):c.2211T>C (p.Asn737=) rs1246274922 0.00001
NM_006445.4(PRPF8):c.2257A>G (p.Thr753Ala) rs1555553557 0.00001
NM_006445.4(PRPF8):c.2265C>T (p.His755=) rs1300083338 0.00001
NM_006445.4(PRPF8):c.2286C>T (p.Arg762=) rs898558099 0.00001
NM_006445.4(PRPF8):c.2340C>T (p.Thr780=) rs759952670 0.00001
NM_006445.4(PRPF8):c.2382C>T (p.Tyr794=) rs368348291 0.00001
NM_006445.4(PRPF8):c.246C>T (p.Arg82=) rs759458143 0.00001
NM_006445.4(PRPF8):c.265T>C (p.Leu89=) rs374170354 0.00001
NM_006445.4(PRPF8):c.2680-14T>C rs1191669771 0.00001
NM_006445.4(PRPF8):c.2680-15C>G rs767449117 0.00001
NM_006445.4(PRPF8):c.2680-7C>T rs138761607 0.00001
NM_006445.4(PRPF8):c.269+13C>T rs776076997 0.00001
NM_006445.4(PRPF8):c.270-10A>G rs761510853 0.00001
NM_006445.4(PRPF8):c.2715C>T (p.Leu905=) rs878916133 0.00001
NM_006445.4(PRPF8):c.2716G>A (p.Val906Ile) rs544253075 0.00001
NM_006445.4(PRPF8):c.2801G>T (p.Arg934Leu) rs902856213 0.00001
NM_006445.4(PRPF8):c.2806T>C (p.Phe936Leu) rs754299754 0.00001
NM_006445.4(PRPF8):c.2818A>G (p.Ile940Val) rs148919297 0.00001
NM_006445.4(PRPF8):c.2872+19C>T rs374199572 0.00001
NM_006445.4(PRPF8):c.2873-15C>A rs1310783982 0.00001
NM_006445.4(PRPF8):c.2892C>T (p.Asp964=) rs1292462982 0.00001
NM_006445.4(PRPF8):c.2907T>C (p.Ser969=) rs745523335 0.00001
NM_006445.4(PRPF8):c.291C>T (p.His97=) rs150683206 0.00001
NM_006445.4(PRPF8):c.2934A>G (p.Glu978=) rs1380534803 0.00001
NM_006445.4(PRPF8):c.2938C>T (p.Arg980Cys) rs781594036 0.00001
NM_006445.4(PRPF8):c.2939G>A (p.Arg980His) rs755497774 0.00001
NM_006445.4(PRPF8):c.2974C>T (p.Leu992=) rs371153662 0.00001
NM_006445.4(PRPF8):c.3018C>A (p.Ala1006=) rs192274713 0.00001
NM_006445.4(PRPF8):c.3060+4C>T rs776890761 0.00001
NM_006445.4(PRPF8):c.3060+5G>A rs373156561 0.00001
NM_006445.4(PRPF8):c.3069C>T (p.Asn1023=) rs575422716 0.00001
NM_006445.4(PRPF8):c.30G>A (p.Pro10=) rs1264779899 0.00001
NM_006445.4(PRPF8):c.3120C>T (p.Ile1040=) rs1043398 0.00001
NM_006445.4(PRPF8):c.315C>T (p.Asn105=) rs1312674741 0.00001
NM_006445.4(PRPF8):c.322A>G (p.Met108Val) rs1226483167 0.00001
NM_006445.4(PRPF8):c.3243T>C (p.Ala1081=) rs748337171 0.00001
NM_006445.4(PRPF8):c.3267C>T (p.Cys1089=) rs749987359 0.00001
NM_006445.4(PRPF8):c.3299+7G>T rs753425294 0.00001
NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys) rs776540872 0.00001
NM_006445.4(PRPF8):c.3335G>A (p.Arg1112His) rs780480249 0.00001
NM_006445.4(PRPF8):c.3351C>T (p.His1117=) rs758889307 0.00001
NM_006445.4(PRPF8):c.336G>C (p.Gln112His) rs779897710 0.00001
NM_006445.4(PRPF8):c.3432A>G (p.Lys1144=) rs759396855 0.00001
NM_006445.4(PRPF8):c.3435T>C (p.His1145=) rs914691135 0.00001
NM_006445.4(PRPF8):c.3471C>T (p.Ile1157=) rs1341579474 0.00001
NM_006445.4(PRPF8):c.3535A>G (p.Ser1179Gly) rs1477643212 0.00001
NM_006445.4(PRPF8):c.3541G>T (p.Asp1181Tyr) rs973440488 0.00001
NM_006445.4(PRPF8):c.3553C>T (p.Leu1185=) rs1912439521 0.00001
NM_006445.4(PRPF8):c.3562A>G (p.Asn1188Asp) rs1196221841 0.00001
NM_006445.4(PRPF8):c.3568T>A (p.Cys1190Ser) rs778213468 0.00001
NM_006445.4(PRPF8):c.3577G>A (p.Glu1193Lys) rs1221014181 0.00001
NM_006445.4(PRPF8):c.360C>T (p.Tyr120=) rs764798990 0.00001
NM_006445.4(PRPF8):c.3657+14G>A rs776313689 0.00001
NM_006445.4(PRPF8):c.3657+18C>G rs760419574 0.00001
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=) rs753683243 0.00001
NM_006445.4(PRPF8):c.3732G>C (p.Val1244=) rs752174610 0.00001
NM_006445.4(PRPF8):c.3753T>C (p.Ser1251=) rs1163246802 0.00001
NM_006445.4(PRPF8):c.3819C>T (p.Tyr1273=) rs772454729 0.00001
NM_006445.4(PRPF8):c.381C>T (p.Ser127=) rs768024986 0.00001
NM_006445.4(PRPF8):c.3936C>G (p.Pro1312=) rs747888185 0.00001
NM_006445.4(PRPF8):c.4022+10G>C rs761169403 0.00001
NM_006445.4(PRPF8):c.4056C>T (p.His1352=) rs1339362589 0.00001
NM_006445.4(PRPF8):c.405C>T (p.Val135=) rs1912966508 0.00001
NM_006445.4(PRPF8):c.4077T>C (p.His1359=) rs766984158 0.00001
NM_006445.4(PRPF8):c.4107C>T (p.Tyr1369=) rs181211897 0.00001
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=) rs761899545 0.00001
NM_006445.4(PRPF8):c.429G>A (p.Gln143=) rs779810098 0.00001
NM_006445.4(PRPF8):c.42G>T (p.Val14=) rs933902745 0.00001
NM_006445.4(PRPF8):c.4339-9G>A rs372833851 0.00001
NM_006445.4(PRPF8):c.435-20T>C rs771877319 0.00001
NM_006445.4(PRPF8):c.43C>T (p.Pro15Ser) rs761875801 0.00001
NM_006445.4(PRPF8):c.4407C>T (p.Asn1469=) rs752864502 0.00001
NM_006445.4(PRPF8):c.4437C>T (p.Gly1479=) rs187811139 0.00001
NM_006445.4(PRPF8):c.4500G>C (p.Gly1500=) rs1438342049 0.00001
NM_006445.4(PRPF8):c.4509-11T>G rs944934406 0.00001
NM_006445.4(PRPF8):c.4509-3C>T rs535981694 0.00001
NM_006445.4(PRPF8):c.4509-6C>T rs549517062 0.00001
NM_006445.4(PRPF8):c.4542G>A (p.Lys1514=) rs749590650 0.00001
NM_006445.4(PRPF8):c.4560T>C (p.Asn1520=) rs1335357748 0.00001
NM_006445.4(PRPF8):c.4619C>T (p.Pro1540Leu) rs1362834307 0.00001
NM_006445.4(PRPF8):c.4638+11T>C rs773323136 0.00001
NM_006445.4(PRPF8):c.4639-19A>G rs777087610 0.00001
NM_006445.4(PRPF8):c.4719C>G (p.Leu1573=) rs769041549 0.00001
NM_006445.4(PRPF8):c.4755C>A (p.Ile1585=) rs187533075 0.00001
NM_006445.4(PRPF8):c.4785+13C>T rs777829012 0.00001
NM_006445.4(PRPF8):c.4786-7C>T rs1176566816 0.00001
NM_006445.4(PRPF8):c.4938T>C (p.Ala1646=) rs1366324907 0.00001
NM_006445.4(PRPF8):c.5034C>A (p.Arg1678=) rs1911571413 0.00001
NM_006445.4(PRPF8):c.5091G>A (p.Ser1697=) rs746909576 0.00001
NM_006445.4(PRPF8):c.50C>G (p.Pro17Arg) rs1281548539 0.00001
NM_006445.4(PRPF8):c.5109C>T (p.Ile1703=) rs1328845406 0.00001
NM_006445.4(PRPF8):c.5139-16C>G rs1481527522 0.00001
NM_006445.4(PRPF8):c.5166C>T (p.Ser1722=) rs147690140 0.00001
NM_006445.4(PRPF8):c.5211C>T (p.Asn1737=) rs369829571 0.00001
NM_006445.4(PRPF8):c.5223T>C (p.Tyr1741=) rs1338417705 0.00001
NM_006445.4(PRPF8):c.5231G>A (p.Arg1744His) rs1911521689 0.00001
NM_006445.4(PRPF8):c.5259C>G (p.Leu1753=) rs1439589917 0.00001
NM_006445.4(PRPF8):c.5377-11T>C rs756857093 0.00001
NM_006445.4(PRPF8):c.5377-13C>T rs758433316 0.00001
NM_006445.4(PRPF8):c.5377-20C>T rs566646595 0.00001
NM_006445.4(PRPF8):c.5377-6C>T rs763820467 0.00001
NM_006445.4(PRPF8):c.5472G>A (p.Thr1824=) rs776511794 0.00001
NM_006445.4(PRPF8):c.5475C>T (p.Ser1825=) rs768953562 0.00001
NM_006445.4(PRPF8):c.5620-10C>A rs759792557 0.00001
NM_006445.4(PRPF8):c.5620-20T>C rs954672616 0.00001
NM_006445.4(PRPF8):c.5622G>A (p.Val1874=) rs1160648801 0.00001
NM_006445.4(PRPF8):c.5661G>A (p.Ser1887=) rs773087540 0.00001
NM_006445.4(PRPF8):c.5718C>T (p.Ile1906=) rs1426252600 0.00001
NM_006445.4(PRPF8):c.5727C>A (p.Ala1909=) rs754652405 0.00001
NM_006445.4(PRPF8):c.5736C>T (p.Pro1912=) rs746713240 0.00001
NM_006445.4(PRPF8):c.5739G>T (p.Gln1913His) rs1911394288 0.00001
NM_006445.4(PRPF8):c.5760T>C (p.Tyr1920=) rs1480277957 0.00001
NM_006445.4(PRPF8):c.5794-6T>C rs761565328 0.00001
NM_006445.4(PRPF8):c.5862G>A (p.Leu1954=) rs200558108 0.00001
NM_006445.4(PRPF8):c.5881A>G (p.Ile1961Val) rs758386812 0.00001
NM_006445.4(PRPF8):c.5913G>T (p.Leu1971=) rs199794814 0.00001
NM_006445.4(PRPF8):c.5987+16G>A rs758574080 0.00001
NM_006445.4(PRPF8):c.6009A>G (p.Thr2003=) rs778922306 0.00001
NM_006445.4(PRPF8):c.600C>T (p.Asp200=) rs755686325 0.00001
NM_006445.4(PRPF8):c.601G>A (p.Ala201Thr) rs745619115 0.00001
NM_006445.4(PRPF8):c.6050C>T (p.Ser2017Leu) rs914967064 0.00001
NM_006445.4(PRPF8):c.6051G>A (p.Ser2017=) rs560560988 0.00001
NM_006445.4(PRPF8):c.6087C>T (p.Ile2029=) rs751137989 0.00001
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=) rs761118301 0.00001
NM_006445.4(PRPF8):c.6216G>A (p.Glu2072=) rs780808836 0.00001
NM_006445.4(PRPF8):c.6263A>G (p.Asn2088Ser) rs763727794 0.00001
NM_006445.4(PRPF8):c.6285C>T (p.Asp2095=) rs755389533 0.00001
NM_006445.4(PRPF8):c.6297G>C (p.Glu2099Asp) rs1463152553 0.00001
NM_006445.4(PRPF8):c.6357C>T (p.Asp2119=) rs531804043 0.00001
NM_006445.4(PRPF8):c.6361C>T (p.Arg2121Trp) rs867684763 0.00001
NM_006445.4(PRPF8):c.6370-7T>C rs1365311534 0.00001
NM_006445.4(PRPF8):c.6427C>T (p.Arg2143Cys) rs1206536203 0.00001
NM_006445.4(PRPF8):c.6428G>A (p.Arg2143His) rs1200243929 0.00001
NM_006445.4(PRPF8):c.653+8A>G rs538280331 0.00001
NM_006445.4(PRPF8):c.654-14C>G rs1489787491 0.00001
NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser) rs377037603 0.00001
NM_006445.4(PRPF8):c.6585C>T (p.Thr2195=) rs773192791 0.00001
NM_006445.4(PRPF8):c.6650+14C>T rs941135492 0.00001
NM_006445.4(PRPF8):c.6650+5G>A rs1246430524 0.00001
NM_006445.4(PRPF8):c.6651-14C>T rs780328989 0.00001
NM_006445.4(PRPF8):c.666C>T (p.Gly222=) rs757567775 0.00001
NM_006445.4(PRPF8):c.6678G>A (p.Thr2226=) rs368425914 0.00001
NM_006445.4(PRPF8):c.6732G>A (p.Lys2244=) rs767645923 0.00001
NM_006445.4(PRPF8):c.6741C>T (p.Asn2247=) rs748456922 0.00001
NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=) rs755962697 0.00001
NM_006445.4(PRPF8):c.6854-5C>T rs764408714 0.00001
NM_006445.4(PRPF8):c.6859C>T (p.Arg2287Trp) rs1293883059 0.00001
NM_006445.4(PRPF8):c.6872A>G (p.Asn2291Ser) rs993874202 0.00001
NM_006445.4(PRPF8):c.6885G>A (p.Glu2295=) rs769542507 0.00001
NM_006445.4(PRPF8):c.6897G>A (p.Ala2299=) rs375319645 0.00001
NM_006445.4(PRPF8):c.6955C>T (p.Leu2319Phe) rs925931390 0.00001
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp) rs1910997588 0.00001
NM_006445.4(PRPF8):c.6984G>A (p.Ala2328=) rs768551565 0.00001
NM_006445.4(PRPF8):c.7005C>T (p.Ala2335=) rs1367849430 0.00001
NM_006445.4(PRPF8):c.708G>A (p.Ser236=) rs1430052574 0.00001
NM_006445.4(PRPF8):c.783G>C (p.Lys261Asn) rs749712016 0.00001
NM_006445.4(PRPF8):c.78G>A (p.Ser26=) rs1472672989 0.00001
NM_006445.4(PRPF8):c.846T>C (p.Leu282=) rs1181051190 0.00001
NM_006445.4(PRPF8):c.867-10T>C rs1270742720 0.00001
NM_006445.4(PRPF8):c.870T>C (p.Asp290=) rs1191614568 0.00001
NM_006445.4(PRPF8):c.88C>T (p.Leu30=) rs1253332355 0.00001
NM_006445.4(PRPF8):c.935A>T (p.Tyr312Phe) rs940657634 0.00001
NM_006445.4(PRPF8):c.942T>A (p.Ile314=) rs190602751 0.00001
NC_000017.10:g.(?_1554096)_(1557330_?)dup
NC_000017.10:g.(?_1554096)_(1565467_?)dup
NC_000017.10:g.(?_1554096)_(1585004_?)dup
NC_000017.10:g.(?_1577736)_(1587865_?)dup
NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs) rs1555550025
NM_006445.4(PRPF8):c.*2C>T rs147941247
NM_006445.4(PRPF8):c.*36C>T rs776962939
NM_006445.4(PRPF8):c.*72C>G rs758889910
NM_006445.4(PRPF8):c.-15T>A rs886052618
NM_006445.4(PRPF8):c.-22G>C rs185356676
NM_006445.4(PRPF8):c.-34C>T rs886052621
NM_006445.4(PRPF8):c.-43G>A rs575056329
NM_006445.4(PRPF8):c.-43G>C rs575056329
NM_006445.4(PRPF8):c.-4G>T rs886052617
NM_006445.4(PRPF8):c.-76A>G rs765014520
NM_006445.4(PRPF8):c.-79C>T rs74635192
NM_006445.4(PRPF8):c.100+12G>C
NM_006445.4(PRPF8):c.100+15_100+16del
NM_006445.4(PRPF8):c.100+18A>T
NM_006445.4(PRPF8):c.100+20C>T
NM_006445.4(PRPF8):c.100+8G>T rs778160043
NM_006445.4(PRPF8):c.1003C>T (p.Pro335Ser)
NM_006445.4(PRPF8):c.1005C>G (p.Pro335=)
NM_006445.4(PRPF8):c.101-4C>G rs775243030
NM_006445.4(PRPF8):c.101-8C>T rs369806898
NM_006445.4(PRPF8):c.1014A>G (p.Val338=)
NM_006445.4(PRPF8):c.1041G>A (p.Leu347=) rs2151131059
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) rs774010147
NM_006445.4(PRPF8):c.1056T>C (p.Phe352=)
NM_006445.4(PRPF8):c.1080C>T (p.Ser360=) rs750046295
NM_006445.4(PRPF8):c.1091C>T (p.Ser364Leu)
NM_006445.4(PRPF8):c.1093G>A (p.Val365Ile) rs1912871372
NM_006445.4(PRPF8):c.1098+13A>G rs370864378
NM_006445.4(PRPF8):c.1098+14G>C
NM_006445.4(PRPF8):c.1098+16G>A rs769587384
NM_006445.4(PRPF8):c.1098+6G>T
NM_006445.4(PRPF8):c.1099-12T>C
NM_006445.4(PRPF8):c.1099-15G>A
NM_006445.4(PRPF8):c.1099-9C>T rs1165186506
NM_006445.4(PRPF8):c.1137G>A (p.Glu379=)
NM_006445.4(PRPF8):c.1143G>A (p.Pro381=)
NM_006445.4(PRPF8):c.1149T>G (p.Phe383Leu) rs755301153
NM_006445.4(PRPF8):c.1151T>G (p.Val384Gly)
NM_006445.4(PRPF8):c.1175C>T (p.Pro392Leu)
NM_006445.4(PRPF8):c.117A>G (p.Gln39=)
NM_006445.4(PRPF8):c.1185A>G (p.Thr395=) rs1912804464
NM_006445.4(PRPF8):c.1186G>A (p.Asp396Asn)
NM_006445.4(PRPF8):c.1199A>G (p.Asn400Ser)
NM_006445.4(PRPF8):c.1200T>C (p.Asn400=)
NM_006445.4(PRPF8):c.1203C>T (p.Gly401=)
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) rs1912802818
NM_006445.4(PRPF8):c.1223C>T (p.Pro408Leu)
NM_006445.4(PRPF8):c.1226G>A (p.Arg409Gln) rs1330263474
NM_006445.4(PRPF8):c.1235A>C (p.Asn412Thr) rs778586970
NM_006445.4(PRPF8):c.1242C>T (p.Arg414=)
NM_006445.4(PRPF8):c.1244C>G (p.Ser415Cys) rs1237555096
NM_006445.4(PRPF8):c.1261G>T (p.Ala421Ser)
NM_006445.4(PRPF8):c.1270A>C (p.Ile424Leu)
NM_006445.4(PRPF8):c.1275C>G (p.Pro425=) rs979118719
NM_006445.4(PRPF8):c.1276C>T (p.Leu426Phe)
NM_006445.4(PRPF8):c.1281C>A (p.Val427=) rs528335604
NM_006445.4(PRPF8):c.1281C>T (p.Val427=)
NM_006445.4(PRPF8):c.1287C>T (p.Asn429=) rs1179577099
NM_006445.4(PRPF8):c.1289+14del rs1163645455
NM_006445.4(PRPF8):c.1289+16G>T rs988297129
NM_006445.4(PRPF8):c.1289+19G>T rs2151130184
NM_006445.4(PRPF8):c.1289+6G>T
NM_006445.4(PRPF8):c.128A>G (p.Lys43Arg)
NM_006445.4(PRPF8):c.1290-10_1290-9insC rs2151130041
NM_006445.4(PRPF8):c.1290-16G>A
NM_006445.4(PRPF8):c.1292A>G (p.Tyr431Cys)
NM_006445.4(PRPF8):c.1294C>T (p.Arg432Trp) rs772894195
NM_006445.4(PRPF8):c.1301A>G (p.His434Arg)
NM_006445.4(PRPF8):c.1309G>A (p.Ala437Thr)
NM_006445.4(PRPF8):c.1317G>T (p.Gln439His) rs1912780617
NM_006445.4(PRPF8):c.1327G>A (p.Val443Met) rs1912780438
NM_006445.4(PRPF8):c.1330A>C (p.Arg444=)
NM_006445.4(PRPF8):c.1332G>A (p.Arg444=) rs2151130008
NM_006445.4(PRPF8):c.1335C>G (p.Val445=) rs1912780033
NM_006445.4(PRPF8):c.1341C>T (p.Tyr447=) rs2151129985
NM_006445.4(PRPF8):c.1347G>A (p.Lys449=)
NM_006445.4(PRPF8):c.1348C>G (p.Leu450Val)
NM_006445.4(PRPF8):c.1375C>T (p.Leu459=) rs2151129963
NM_006445.4(PRPF8):c.1384C>T (p.Arg462Trp) rs756080435
NM_006445.4(PRPF8):c.1386G>T (p.Arg462=)
NM_006445.4(PRPF8):c.1393A>G (p.Lys465Glu) rs1476803040
NM_006445.4(PRPF8):c.1409+18C>T
NM_006445.4(PRPF8):c.1409+3A>G rs1267501512
NM_006445.4(PRPF8):c.1409+9C>T
NM_006445.4(PRPF8):c.1410-10C>A
NM_006445.4(PRPF8):c.1410-14T>C
NM_006445.4(PRPF8):c.1410-16C>T rs1912770690
NM_006445.4(PRPF8):c.1410-20T>C
NM_006445.4(PRPF8):c.1410-7A>G
NM_006445.4(PRPF8):c.1420C>A (p.Arg474Ser)
NM_006445.4(PRPF8):c.1423T>C (p.Ser475Pro)
NM_006445.4(PRPF8):c.1430A>G (p.Lys477Arg)
NM_006445.4(PRPF8):c.1434C>A (p.Ala478=)
NM_006445.4(PRPF8):c.1434C>T (p.Ala478=)
NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser) rs1912768305
NM_006445.4(PRPF8):c.1439A>G (p.Lys480Arg)
NM_006445.4(PRPF8):c.1443C>T (p.Phe481=) rs1299650531
NM_006445.4(PRPF8):c.1447C>G (p.Gln483Glu) rs1912767831
NM_006445.4(PRPF8):c.1494C>T (p.Arg498=)
NM_006445.4(PRPF8):c.150G>A (p.Lys50=) rs149397412
NM_006445.4(PRPF8):c.1512C>T (p.Leu504=)
NM_006445.4(PRPF8):c.1529G>T (p.Arg510Leu)
NM_006445.4(PRPF8):c.1539C>G (p.Leu513=)
NM_006445.4(PRPF8):c.1551C>T (p.His517=)
NM_006445.4(PRPF8):c.1572C>G (p.Leu524=)
NM_006445.4(PRPF8):c.1572C>T (p.Leu524=) rs144141720
NM_006445.4(PRPF8):c.1593C>T (p.Thr531=) rs781150319
NM_006445.4(PRPF8):c.1599+9A>G
NM_006445.4(PRPF8):c.1600-11A>G rs1912755505
NM_006445.4(PRPF8):c.1600-14dup rs1268619483
NM_006445.4(PRPF8):c.1600-17T>C
NM_006445.4(PRPF8):c.1600-20G>A
NM_006445.4(PRPF8):c.1600-22_1600-19del rs750293505
NM_006445.4(PRPF8):c.1612T>C (p.Ser538Pro)
NM_006445.4(PRPF8):c.1644G>A (p.Arg548=)
NM_006445.4(PRPF8):c.1648G>T (p.Val550Phe)
NM_006445.4(PRPF8):c.1653G>A (p.Leu551=) rs1912753368
NM_006445.4(PRPF8):c.1684G>A (p.Val562Met) rs777124467
NM_006445.4(PRPF8):c.1686G>A (p.Val562=) rs1488163667
NM_006445.4(PRPF8):c.168C>G (p.Ala56=) rs1913059462
NM_006445.4(PRPF8):c.1691A>G (p.Tyr564Cys) rs1025677958
NM_006445.4(PRPF8):c.1694G>A (p.Arg565Gln) rs2151129624
NM_006445.4(PRPF8):c.1698G>C (p.Leu566=) rs764769128
NM_006445.4(PRPF8):c.169C>A (p.Gln57Lys)
NM_006445.4(PRPF8):c.1701C>A (p.Gly567=) rs761235923
NM_006445.4(PRPF8):c.1710T>C (p.Asp570=) rs1912749197
NM_006445.4(PRPF8):c.1722G>T (p.Leu574=)
NM_006445.4(PRPF8):c.1736A>G (p.Gln579Arg) rs2151129473
NM_006445.4(PRPF8):c.1740T>C (p.Tyr580=)
NM_006445.4(PRPF8):c.1741A>C (p.Ile581Leu)
NM_006445.4(PRPF8):c.1741A>G (p.Ile581Val)
NM_006445.4(PRPF8):c.1752T>A (p.His584Gln)
NM_006445.4(PRPF8):c.1755T>C (p.Val585=)
NM_006445.4(PRPF8):c.1762T>C (p.Leu588=) rs1465551867
NM_006445.4(PRPF8):c.1777C>T (p.Arg593Ter)
NM_006445.4(PRPF8):c.1779A>G (p.Arg593=)
NM_006445.4(PRPF8):c.178G>A (p.Asp60Asn)
NM_006445.4(PRPF8):c.1799G>A (p.Arg600Gln)
NM_006445.4(PRPF8):c.17C>T (p.Pro6Leu) rs2151133802
NM_006445.4(PRPF8):c.1800A>G (p.Arg600=)
NM_006445.4(PRPF8):c.181A>G (p.Met61Val)
NM_006445.4(PRPF8):c.182T>C (p.Met61Thr) rs1913058338
NM_006445.4(PRPF8):c.1831del (p.Leu611fs)
NM_006445.4(PRPF8):c.1838A>G (p.Tyr613Cys) rs2151129405
NM_006445.4(PRPF8):c.183G>A (p.Met61Ile)
NM_006445.4(PRPF8):c.1844G>A (p.Arg615His)
NM_006445.4(PRPF8):c.1848C>T (p.Phe616=)
NM_006445.4(PRPF8):c.1854+14T>C
NM_006445.4(PRPF8):c.1854+16T>C rs374667990
NM_006445.4(PRPF8):c.1854+18C>T
NM_006445.4(PRPF8):c.1854+20_1854+23del rs764362757
NM_006445.4(PRPF8):c.1854+3G>A
NM_006445.4(PRPF8):c.1855-13del
NM_006445.4(PRPF8):c.1855-14G>T
NM_006445.4(PRPF8):c.1855-16C>A rs763190656
NM_006445.4(PRPF8):c.1855-5C>A
NM_006445.4(PRPF8):c.186C>T (p.Pro62=)
NM_006445.4(PRPF8):c.1880G>A (p.Cys627Tyr)
NM_006445.4(PRPF8):c.1884C>T (p.Gly628=)
NM_006445.4(PRPF8):c.1887C>T (p.Phe629=) rs778652081
NM_006445.4(PRPF8):c.1890_1894del (p.Trp630fs) rs1555553703
NM_006445.4(PRPF8):c.1894G>A (p.Ala632Thr)
NM_006445.4(PRPF8):c.1897G>A (p.Gly633Ser)
NM_006445.4(PRPF8):c.1912C>T (p.Leu638Phe)
NM_006445.4(PRPF8):c.1926T>A (p.Arg642=) rs1912672762
NM_006445.4(PRPF8):c.1948C>T (p.Arg650Ter)
NM_006445.4(PRPF8):c.195T>C (p.His65=)
NM_006445.4(PRPF8):c.1969G>T (p.Ala657Ser)
NM_006445.4(PRPF8):c.1971C>G (p.Ala657=) rs2151128729
NM_006445.4(PRPF8):c.1984+17G>A
NM_006445.4(PRPF8):c.1984+6T>A
NM_006445.4(PRPF8):c.1984+8G>T
NM_006445.4(PRPF8):c.1985-11T>C
NM_006445.4(PRPF8):c.1985-12C>G
NM_006445.4(PRPF8):c.1985-3del
NM_006445.4(PRPF8):c.1985-6dup rs1176602293
NM_006445.4(PRPF8):c.1985-7C>T
NM_006445.4(PRPF8):c.1985-8A>C rs757526364
NM_006445.4(PRPF8):c.1989A>G (p.Arg663=)
NM_006445.4(PRPF8):c.1992C>T (p.His664=)
NM_006445.4(PRPF8):c.1994C>A (p.Ser665Ter)
NM_006445.4(PRPF8):c.2013A>G (p.Thr671=) rs574075876
NM_006445.4(PRPF8):c.2037A>G (p.Ser679=)
NM_006445.4(PRPF8):c.2055G>C (p.Leu685=)
NM_006445.4(PRPF8):c.2079T>C (p.Ile693=)
NM_006445.4(PRPF8):c.2080C>T (p.Leu694=)
NM_006445.4(PRPF8):c.2093C>T (p.Pro698Leu)
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
NM_006445.4(PRPF8):c.214G>A (p.Asp72Asn)
NM_006445.4(PRPF8):c.2157C>T (p.Cys719=)
NM_006445.4(PRPF8):c.2170A>G (p.Ile724Val)
NM_006445.4(PRPF8):c.2181+11_2181+14del
NM_006445.4(PRPF8):c.2181+13T>C
NM_006445.4(PRPF8):c.2181+13_2181+14del
NM_006445.4(PRPF8):c.2181+19C>T
NM_006445.4(PRPF8):c.2181+20C>T rs2151128401
NM_006445.4(PRPF8):c.2181+4G>A rs1357233581
NM_006445.4(PRPF8):c.2181+5G>A rs747396457
NM_006445.4(PRPF8):c.2181+5del rs776292405
NM_006445.4(PRPF8):c.2181+5dup
NM_006445.4(PRPF8):c.2181+7G>A
NM_006445.4(PRPF8):c.2181G>A (p.Lys727=)
NM_006445.4(PRPF8):c.2182-3del
NM_006445.4(PRPF8):c.2182-4T>C
NM_006445.4(PRPF8):c.2182-6dup rs779420760
NM_006445.4(PRPF8):c.2195C>T (p.Pro732Leu) rs1912617850
NM_006445.4(PRPF8):c.2196G>A (p.Pro732=)
NM_006445.4(PRPF8):c.2199G>A (p.Thr733=) rs777885967
NM_006445.4(PRPF8):c.21T>C (p.Tyr7=)
NM_006445.4(PRPF8):c.2203A>G (p.Ile735Val)
NM_006445.4(PRPF8):c.2225A>G (p.Tyr742Cys)
NM_006445.4(PRPF8):c.222A>T (p.Gly74=) rs1268876623
NM_006445.4(PRPF8):c.2252C>G (p.Thr751Ser)
NM_006445.4(PRPF8):c.2255A>G (p.Asn752Ser)
NM_006445.4(PRPF8):c.225C>T (p.Asp75=)
NM_006445.4(PRPF8):c.2280G>A (p.Arg760=)
NM_006445.4(PRPF8):c.2287C>T (p.Arg763Ter) rs2151128210
NM_006445.4(PRPF8):c.2292G>A (p.Gly764=)
NM_006445.4(PRPF8):c.230C>T (p.Thr77Ile)
NM_006445.4(PRPF8):c.2310T>C (p.Thr770=) rs1912610919
NM_006445.4(PRPF8):c.2313_2316del (p.Cys772fs)
NM_006445.4(PRPF8):c.2319A>G (p.Lys773=)
NM_006445.4(PRPF8):c.231C>T (p.Thr77=) rs1206494418
NM_006445.4(PRPF8):c.2337C>T (p.Leu779=)
NM_006445.4(PRPF8):c.2355G>A (p.Lys785=)
NM_006445.4(PRPF8):c.2357_2365del (p.Ala786_Gln788del)
NM_006445.4(PRPF8):c.2358A>G (p.Ala786=)
NM_006445.4(PRPF8):c.2368C>T (p.Arg790Trp)
NM_006445.4(PRPF8):c.2370G>T (p.Arg790=) rs2151128174
NM_006445.4(PRPF8):c.2373G>A (p.Gln791=)
NM_006445.4(PRPF8):c.2388+12T>A
NM_006445.4(PRPF8):c.2388+17T>G
NM_006445.4(PRPF8):c.2389-6T>G
NM_006445.4(PRPF8):c.2389-9A>C rs527866689
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.2401A>G (p.Ile801Val)
NM_006445.4(PRPF8):c.2427A>G (p.Val809=)
NM_006445.4(PRPF8):c.2435C>A (p.Thr812Asn)
NM_006445.4(PRPF8):c.2440G>A (p.Val814Met)
NM_006445.4(PRPF8):c.2453A>G (p.Glu818Gly) rs1912599686
NM_006445.4(PRPF8):c.2458C>T (p.Arg820Cys)
NM_006445.4(PRPF8):c.2471C>G (p.Pro824Arg)
NM_006445.4(PRPF8):c.2484C>T (p.Pro828=) rs562497060
NM_006445.4(PRPF8):c.24A>G (p.Arg8=) rs1199189934
NM_006445.4(PRPF8):c.2514G>A (p.Leu838=)
NM_006445.4(PRPF8):c.2515C>T (p.Leu839Phe) rs2151128041
NM_006445.4(PRPF8):c.2540A>G (p.Lys847Arg)
NM_006445.4(PRPF8):c.2552+13G>A
NM_006445.4(PRPF8):c.2552+16G>C
NM_006445.4(PRPF8):c.2553-10C>A
NM_006445.4(PRPF8):c.2553-15C>G
NM_006445.4(PRPF8):c.2553-9T>A
NM_006445.4(PRPF8):c.2563C>A (p.Arg855=)
NM_006445.4(PRPF8):c.2564G>A (p.Arg855Gln) rs2151127926
NM_006445.4(PRPF8):c.257G>C (p.Arg86Thr)
NM_006445.4(PRPF8):c.2602G>A (p.Glu868Lys) rs2151127906
NM_006445.4(PRPF8):c.2609C>T (p.Ala870Val)
NM_006445.4(PRPF8):c.2610C>T (p.Ala870=)
NM_006445.4(PRPF8):c.2658C>G (p.Leu886=) rs1912583008
NM_006445.4(PRPF8):c.2665_2668del (p.Arg889fs) rs1912582692
NM_006445.4(PRPF8):c.2679+19del rs2151127870
NM_006445.4(PRPF8):c.2679+5G>A rs747734056
NM_006445.4(PRPF8):c.2679+8A>C rs1466852442
NM_006445.4(PRPF8):c.2680-13C>T
NM_006445.4(PRPF8):c.2680-9G>A rs886052614
NM_006445.4(PRPF8):c.2680G>A (p.Val894Met) rs1912576146
NM_006445.4(PRPF8):c.2684G>C (p.Gly895Ala)
NM_006445.4(PRPF8):c.269+10A>G
NM_006445.4(PRPF8):c.269+19T>G
NM_006445.4(PRPF8):c.269+8A>G
NM_006445.4(PRPF8):c.270-20C>T
NM_006445.4(PRPF8):c.270-8T>C
NM_006445.4(PRPF8):c.2700T>C (p.Asp900=)
NM_006445.4(PRPF8):c.2701C>A (p.Leu901Met)
NM_006445.4(PRPF8):c.2701C>T (p.Leu901=) rs2151127784
NM_006445.4(PRPF8):c.2712C>G (p.His904Gln)
NM_006445.4(PRPF8):c.2729A>C (p.Asp910Ala)
NM_006445.4(PRPF8):c.272C>T (p.Ala91Val)
NM_006445.4(PRPF8):c.2737C>T (p.Pro913Ser) rs2151127771
NM_006445.4(PRPF8):c.2739C>T (p.Pro913=)
NM_006445.4(PRPF8):c.2745G>A (p.Glu915=) rs1912574264
NM_006445.4(PRPF8):c.274C>T (p.Leu92=)
NM_006445.4(PRPF8):c.2759C>T (p.Ala920Val)
NM_006445.4(PRPF8):c.2766G>A (p.Leu922=)
NM_006445.4(PRPF8):c.2789C>T (p.Ala930Val) rs1912573317
NM_006445.4(PRPF8):c.2793C>T (p.Asp931=)
NM_006445.4(PRPF8):c.2798G>A (p.Arg933His)
NM_006445.4(PRPF8):c.27G>A (p.Gly9=) rs1913132300
NM_006445.4(PRPF8):c.2800C>T (p.Arg934Cys)
NM_006445.4(PRPF8):c.2812C>T (p.Pro938Ser)
NM_006445.4(PRPF8):c.2823G>A (p.Lys941=)
NM_006445.4(PRPF8):c.2862G>A (p.Lys954=)
NM_006445.4(PRPF8):c.2872+11C>T
NM_006445.4(PRPF8):c.2872+15A>G rs911625763
NM_006445.4(PRPF8):c.2872+5A>T rs1912570944
NM_006445.4(PRPF8):c.2872+9T>C
NM_006445.4(PRPF8):c.2873-11C>G rs1912554814
NM_006445.4(PRPF8):c.2873-18T>C rs2151127449
NM_006445.4(PRPF8):c.2873-9A>C rs1912554609
NM_006445.4(PRPF8):c.2874C>T (p.Gly958=)
NM_006445.4(PRPF8):c.2879A>G (p.Asn960Ser) rs1912553788
NM_006445.4(PRPF8):c.2886G>A (p.Leu962=) rs2151127428
NM_006445.4(PRPF8):c.2888A>G (p.Gln963Arg)
NM_006445.4(PRPF8):c.288C>T (p.Pro96=) rs1567692960
NM_006445.4(PRPF8):c.2893G>A (p.Val965Met)
NM_006445.4(PRPF8):c.2894T>G (p.Val965Gly)
NM_006445.4(PRPF8):c.2904G>A (p.Thr968=)
NM_006445.4(PRPF8):c.2904G>C (p.Thr968=)
NM_006445.4(PRPF8):c.2904G>T (p.Thr968=) rs775166089
NM_006445.4(PRPF8):c.2913C>T (p.Gly971=)
NM_006445.4(PRPF8):c.2921A>G (p.Asn974Ser)
NM_006445.4(PRPF8):c.2926A>G (p.Met976Val)
NM_006445.4(PRPF8):c.2952G>A (p.Met984Ile)
NM_006445.4(PRPF8):c.2964C>A (p.Ile988=)
NM_006445.4(PRPF8):c.2964C>T (p.Ile988=)
NM_006445.4(PRPF8):c.2976G>A (p.Leu992=) rs1912548618
NM_006445.4(PRPF8):c.2976G>C (p.Leu992=)
NM_006445.4(PRPF8):c.2984G>C (p.Arg995Thr)
NM_006445.4(PRPF8):c.2985G>A (p.Arg995=)
NM_006445.4(PRPF8):c.2989C>T (p.Leu997=)
NM_006445.4(PRPF8):c.2997C>G (p.Leu999=)
NM_006445.4(PRPF8):c.3000C>A (p.Ile1000=) rs376110948
NM_006445.4(PRPF8):c.3013A>G (p.Ile1005Val)
NM_006445.4(PRPF8):c.3017C>T (p.Ala1006Val) rs1201048866
NM_006445.4(PRPF8):c.3019G>A (p.Asp1007Asn)
NM_006445.4(PRPF8):c.3032C>G (p.Ala1011Gly)
NM_006445.4(PRPF8):c.3039C>T (p.Asn1013=)
NM_006445.4(PRPF8):c.3039del (p.Asn1013fs) rs2151127334
NM_006445.4(PRPF8):c.3046G>A (p.Val1016Ile) rs1008559652
NM_006445.4(PRPF8):c.3048C>T (p.Val1016=)
NM_006445.4(PRPF8):c.3049A>G (p.Ile1017Val)
NM_006445.4(PRPF8):c.3053A>G (p.Asn1018Ser) rs2151127313
NM_006445.4(PRPF8):c.3054C>T (p.Asn1018=)
NM_006445.4(PRPF8):c.3060+12G>A
NM_006445.4(PRPF8):c.3060+6T>C
NM_006445.4(PRPF8):c.3061-14TTCT[2]
NM_006445.4(PRPF8):c.3061-15G>C
NM_006445.4(PRPF8):c.3061-4C>T
NM_006445.4(PRPF8):c.3061-8C>T
NM_006445.4(PRPF8):c.3061-9T>C rs1912518161
NM_006445.4(PRPF8):c.3075G>A (p.Thr1025=) rs199743069
NM_006445.4(PRPF8):c.3075G>T (p.Thr1025=) rs199743069
NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=) rs201573889
NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=) rs201573889
NM_006445.4(PRPF8):c.3126G>A (p.Gln1042=) rs978250052
NM_006445.4(PRPF8):c.3126G>C (p.Gln1042His) rs978250052
NM_006445.4(PRPF8):c.3132T>C (p.Tyr1044=) rs1567687807
NM_006445.4(PRPF8):c.3141G>A (p.Val1047=) rs966875129
NM_006445.4(PRPF8):c.3150G>C (p.Leu1050Phe) rs2151126880
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu) rs886052613
NM_006445.4(PRPF8):c.3157T>C (p.Leu1053=)
NM_006445.4(PRPF8):c.3165G>A (p.Leu1055=)
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
NM_006445.4(PRPF8):c.3168C>T (p.His1056=) rs1005053685
NM_006445.4(PRPF8):c.3179A>G (p.Glu1060Gly)
NM_006445.4(PRPF8):c.3180G>A (p.Glu1060=)
NM_006445.4(PRPF8):c.318G>A (p.Met106Ile)
NM_006445.4(PRPF8):c.3192C>G (p.Pro1064=) rs759968678
NM_006445.4(PRPF8):c.3198G>A (p.Gln1066=)
NM_006445.4(PRPF8):c.3199A>T (p.Met1067Leu)
NM_006445.4(PRPF8):c.319C>T (p.Pro107Ser)
NM_006445.4(PRPF8):c.3222C>T (p.Phe1074=)
NM_006445.4(PRPF8):c.3224A>G (p.Gln1075Arg) rs2151126834
NM_006445.4(PRPF8):c.3224A>T (p.Gln1075Leu)
NM_006445.4(PRPF8):c.3231A>G (p.Ile1077Met)
NM_006445.4(PRPF8):c.3238G>A (p.Glu1080Lys)
NM_006445.4(PRPF8):c.3249C>T (p.His1083=)
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=) rs746764862
NM_006445.4(PRPF8):c.3252C>T (p.Pro1084=)
NM_006445.4(PRPF8):c.3263T>C (p.Phe1088Ser) rs1912508817
NM_006445.4(PRPF8):c.3264C>T (p.Phe1088=) rs2151126803
NM_006445.4(PRPF8):c.3281G>A (p.Arg1094His)
NM_006445.4(PRPF8):c.3291T>A (p.Ile1097=)
NM_006445.4(PRPF8):c.3298A>C (p.Arg1100=)
NM_006445.4(PRPF8):c.3299+13C>G
NM_006445.4(PRPF8):c.32G>A (p.Gly11Asp)
NM_006445.4(PRPF8):c.3300-14C>G
NM_006445.4(PRPF8):c.3300-19T>C
NM_006445.4(PRPF8):c.3300-9C>G
NM_006445.4(PRPF8):c.3300G>T (p.Arg1100Ser)
NM_006445.4(PRPF8):c.3304A>G (p.Thr1102Ala)
NM_006445.4(PRPF8):c.3309A>G (p.Ala1103=)
NM_006445.4(PRPF8):c.3319C>T (p.Arg1107Trp) rs2151126253
NM_006445.4(PRPF8):c.3323A>T (p.Asp1108Val)
NM_006445.4(PRPF8):c.3325C>T (p.Leu1109=)
NM_006445.4(PRPF8):c.3332A>C (p.Gln1111Pro)
NM_006445.4(PRPF8):c.3334C>T (p.Arg1112Cys)
NM_006445.4(PRPF8):c.333G>A (p.Glu111=)
NM_006445.4(PRPF8):c.3353del (p.Pro1118fs) rs1912459271
NM_006445.4(PRPF8):c.3361A>G (p.Asn1121Asp)
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly) rs1912457869
NM_006445.4(PRPF8):c.3374T>C (p.Ile1125Thr)
NM_006445.4(PRPF8):c.3376G>A (p.Val1126Ile)
NM_006445.4(PRPF8):c.3387T>C (p.Asn1129=) rs1912456629
NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del) rs1176869304
NM_006445.4(PRPF8):c.3398G>T (p.Cys1133Phe)
NM_006445.4(PRPF8):c.3399C>G (p.Cys1133Trp)
NM_006445.4(PRPF8):c.3399C>T (p.Cys1133=)
NM_006445.4(PRPF8):c.339T>A (p.Ile113=) rs2151132200
NM_006445.4(PRPF8):c.340C>G (p.Arg114Gly)
NM_006445.4(PRPF8):c.340C>T (p.Arg114Trp) rs146929391
NM_006445.4(PRPF8):c.3413C>T (p.Ala1138Val)
NM_006445.4(PRPF8):c.3427A>G (p.Met1143Val)
NM_006445.4(PRPF8):c.3446+12T>C
NM_006445.4(PRPF8):c.3446+19T>C
NM_006445.4(PRPF8):c.3447-20C>T rs2151126020
NM_006445.4(PRPF8):c.3452G>A (p.Arg1151Gln)
NM_006445.4(PRPF8):c.3459A>G (p.Val1153=)
NM_006445.4(PRPF8):c.3484C>G (p.Pro1162Ala) rs2151125963
NM_006445.4(PRPF8):c.348G>T (p.Val116=) rs142778166
NM_006445.4(PRPF8):c.3492A>C (p.Ser1164=)
NM_006445.4(PRPF8):c.3498T>G (p.Thr1166=)
NM_006445.4(PRPF8):c.3501A>T (p.Thr1167=) rs776258501
NM_006445.4(PRPF8):c.3502G>A (p.Val1168Ile)
NM_006445.4(PRPF8):c.3511G>A (p.Glu1171Lys)
NM_006445.4(PRPF8):c.3513G>C (p.Glu1171Asp)
NM_006445.4(PRPF8):c.3523G>A (p.Val1175Met)
NM_006445.4(PRPF8):c.3523G>C (p.Val1175Leu)
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe) rs869025267
NM_006445.4(PRPF8):c.3529G>C (p.Val1177Leu)
NM_006445.4(PRPF8):c.3536G>A (p.Ser1179Asn)
NM_006445.4(PRPF8):c.3549C>T (p.Pro1183=)
NM_006445.4(PRPF8):c.354G>A (p.Val118=) rs2151132189
NM_006445.4(PRPF8):c.3552C>T (p.Asn1184=) rs2151125911
NM_006445.4(PRPF8):c.3563A>C (p.Asn1188Thr) rs2151125894
NM_006445.4(PRPF8):c.3566T>C (p.Met1189Thr)
NM_006445.4(PRPF8):c.356T>C (p.Leu119Pro)
NM_006445.4(PRPF8):c.3583C>T (p.Arg1195Cys)
NM_006445.4(PRPF8):c.3584G>A (p.Arg1195His)
NM_006445.4(PRPF8):c.3587_3604dup (p.Arg1201_Thr1202insIleLeuProLysCysArg)
NM_006445.4(PRPF8):c.3588C>G (p.Ile1196Met)
NM_006445.4(PRPF8):c.358T>C (p.Tyr120His)
NM_006445.4(PRPF8):c.35_49dup (p.Gly16_Pro17insHisProValProGly)
NM_006445.4(PRPF8):c.3613G>A (p.Glu1205Lys)
NM_006445.4(PRPF8):c.3614A>C (p.Glu1205Ala) rs2151125843
NM_006445.4(PRPF8):c.361C>G (p.His121Asp)
NM_006445.4(PRPF8):c.3657+11G>T
NM_006445.4(PRPF8):c.3657+19T>A
NM_006445.4(PRPF8):c.3657+9T>C rs886052612
NM_006445.4(PRPF8):c.3657G>A (p.Glu1219=)
NM_006445.4(PRPF8):c.3658-17T>G rs773449766
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=) rs549397527
NM_006445.4(PRPF8):c.366C>T (p.Ile122=)
NM_006445.4(PRPF8):c.3675A>G (p.Thr1225=)
NM_006445.4(PRPF8):c.3689T>A (p.Leu1230Gln) rs2151125640
NM_006445.4(PRPF8):c.36C>G (p.Asn12Lys)
NM_006445.4(PRPF8):c.3709A>G (p.Met1237Val) rs1053250821
NM_006445.4(PRPF8):c.3727C>T (p.Arg1243Cys)
NM_006445.4(PRPF8):c.3728G>A (p.Arg1243His) rs1219818327
NM_006445.4(PRPF8):c.3730G>A (p.Val1244Met)
NM_006445.4(PRPF8):c.3744C>T (p.Leu1248=)
NM_006445.4(PRPF8):c.3768C>T (p.Phe1256=) rs759119727
NM_006445.4(PRPF8):c.3774+10C>T
NM_006445.4(PRPF8):c.3774+11G>A
NM_006445.4(PRPF8):c.3774+16G>T rs776957553
NM_006445.4(PRPF8):c.3774+17C>T
NM_006445.4(PRPF8):c.3775-14del
NM_006445.4(PRPF8):c.3775-19T>G
NM_006445.4(PRPF8):c.3775-7C>A
NM_006445.4(PRPF8):c.3775-9T>C
NM_006445.4(PRPF8):c.3798T>G (p.Ala1266=) rs2151116896
NM_006445.4(PRPF8):c.37_38delinsTT (p.Pro13Leu)
NM_006445.4(PRPF8):c.3812T>C (p.Met1271Thr) rs1911702506
NM_006445.4(PRPF8):c.3816A>G (p.Thr1272=) rs1911702394
NM_006445.4(PRPF8):c.3837G>A (p.Val1279=) rs1329757056
NM_006445.4(PRPF8):c.3853T>C (p.Leu1285=)
NM_006445.4(PRPF8):c.3857A>T (p.Asp1286Val)
NM_006445.4(PRPF8):c.3876G>A (p.Glu1292=)
NM_006445.4(PRPF8):c.387C>T (p.Val129=)
NM_006445.4(PRPF8):c.3884T>C (p.Ile1295Thr)
NM_006445.4(PRPF8):c.3885C>G (p.Ile1295Met)
NM_006445.4(PRPF8):c.3890C>A (p.Thr1297Lys) rs1555551460
NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His) rs2151116846
NM_006445.4(PRPF8):c.38C>T (p.Pro13Leu)
NM_006445.4(PRPF8):c.3905G>A (p.Gly1302Glu)
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) rs878853387
NM_006445.4(PRPF8):c.3930G>T (p.Arg1310=)
NM_006445.4(PRPF8):c.3935C>A (p.Pro1312His)
NM_006445.4(PRPF8):c.3936C>T (p.Pro1312=)
NM_006445.4(PRPF8):c.3960G>A (p.Lys1320=)
NM_006445.4(PRPF8):c.3969T>C (p.Gly1323=)
NM_006445.4(PRPF8):c.3975C>A (p.Leu1325=)
NM_006445.4(PRPF8):c.3975C>G (p.Leu1325=) rs375341985
NM_006445.4(PRPF8):c.3988A>G (p.Met1330Val)
NM_006445.4(PRPF8):c.39G>A (p.Pro13=) rs2151133776
NM_006445.4(PRPF8):c.4008C>T (p.Pro1336=)
NM_006445.4(PRPF8):c.4014C>T (p.Ser1338=)
NM_006445.4(PRPF8):c.4022+11G>A rs752975695
NM_006445.4(PRPF8):c.4022+17C>T
NM_006445.4(PRPF8):c.4022+18G>A rs771072260
NM_006445.4(PRPF8):c.4022+18G>C
NM_006445.4(PRPF8):c.4022+5A>T
NM_006445.4(PRPF8):c.4023-11C>T
NM_006445.4(PRPF8):c.4023-12A>G
NM_006445.4(PRPF8):c.4023-6A>G
NM_006445.4(PRPF8):c.4023-7dup
NM_006445.4(PRPF8):c.4028C>G (p.Ser1343Cys)
NM_006445.4(PRPF8):c.4032A>G (p.Lys1344=) rs2151116690
NM_006445.4(PRPF8):c.4037C>T (p.Thr1346Ile) rs2151116688
NM_006445.4(PRPF8):c.4041T>G (p.Asp1347Glu)
NM_006445.4(PRPF8):c.4042G>A (p.Val1348Ile)
NM_006445.4(PRPF8):c.405C>A (p.Val135=) rs1912966508
NM_006445.4(PRPF8):c.4061G>A (p.Arg1354His)
NM_006445.4(PRPF8):c.4064C>G (p.Ser1355Ter)
NM_006445.4(PRPF8):c.4068A>G (p.Gly1356=)
NM_006445.4(PRPF8):c.4072A>C (p.Ser1358Arg) rs1351359957
NM_006445.4(PRPF8):c.4080A>G (p.Glu1360=)
NM_006445.4(PRPF8):c.4083A>C (p.Glu1361Asp) rs773400326
NM_006445.4(PRPF8):c.4103T>C (p.Leu1368Ser)
NM_006445.4(PRPF8):c.4114A>G (p.Ile1372Val) rs1911685243
NM_006445.4(PRPF8):c.4140T>C (p.Ile1380=)
NM_006445.4(PRPF8):c.4150C>T (p.Arg1384Trp) rs1911684227
NM_006445.4(PRPF8):c.4152G>A (p.Arg1384=) rs746793043
NM_006445.4(PRPF8):c.4167C>T (p.Tyr1389=)
NM_006445.4(PRPF8):c.4169C>T (p.Ala1390Val)
NM_006445.4(PRPF8):c.4170A>G (p.Ala1390=)
NM_006445.4(PRPF8):c.4179G>A (p.Arg1393=)
NM_006445.4(PRPF8):c.4179G>T (p.Arg1393Ser)
NM_006445.4(PRPF8):c.4196A>G (p.Gln1399Arg) rs2151116638
NM_006445.4(PRPF8):c.4202+16G>A
NM_006445.4(PRPF8):c.4202+9C>G
NM_006445.4(PRPF8):c.4203-14T>C
NM_006445.4(PRPF8):c.4203-18T>G rs2151116516
NM_006445.4(PRPF8):c.4204C>T (p.Arg1402Cys)
NM_006445.4(PRPF8):c.420C>T (p.Tyr140=)
NM_006445.4(PRPF8):c.4214T>C (p.Leu1405Ser)
NM_006445.4(PRPF8):c.4233A>G (p.Ser1411=)
NM_006445.4(PRPF8):c.4240C>T (p.Arg1414Cys)
NM_006445.4(PRPF8):c.4242T>C (p.Arg1414=)
NM_006445.4(PRPF8):c.426C>T (p.Ser142=) rs2151132151
NM_006445.4(PRPF8):c.4279C>T (p.Arg1427Trp)
NM_006445.4(PRPF8):c.4280G>A (p.Arg1427Gln)
NM_006445.4(PRPF8):c.4284C>T (p.His1428=) rs368359875
NM_006445.4(PRPF8):c.4290G>A (p.Leu1430=) rs750912508
NM_006445.4(PRPF8):c.4310G>A (p.Arg1437His)
NM_006445.4(PRPF8):c.4311T>C (p.Arg1437=)
NM_006445.4(PRPF8):c.4323C>T (p.Asp1441=)
NM_006445.4(PRPF8):c.4338+15C>T
NM_006445.4(PRPF8):c.4338+2T>C
NM_006445.4(PRPF8):c.4338+6T>A rs1240784041
NM_006445.4(PRPF8):c.4338+9A>G rs2151116447
NM_006445.4(PRPF8):c.4339-2A>G rs2151116387
NM_006445.4(PRPF8):c.4339-6A>G
NM_006445.4(PRPF8):c.4339-7C>T rs1911661181
NM_006445.4(PRPF8):c.4339-8C>G rs2151116389
NM_006445.4(PRPF8):c.4339-8C>T rs2151116389
NM_006445.4(PRPF8):c.434+18A>C rs72820383
NM_006445.4(PRPF8):c.434+18A>G rs72820383
NM_006445.4(PRPF8):c.434+19T>C rs2151132123
NM_006445.4(PRPF8):c.434+1dup rs746170558
NM_006445.4(PRPF8):c.434+5G>T
NM_006445.4(PRPF8):c.434+8A>G
NM_006445.4(PRPF8):c.434+9G>C rs1912965350
NM_006445.4(PRPF8):c.4348C>T (p.Gln1450Ter)
NM_006445.4(PRPF8):c.435-11dup rs2151132028
NM_006445.4(PRPF8):c.435-16A>T
NM_006445.4(PRPF8):c.435-19_435-13del rs774442583
NM_006445.4(PRPF8):c.435-2A>G
NM_006445.4(PRPF8):c.435-3C>T rs112242959
NM_006445.4(PRPF8):c.4356G>T (p.Pro1452=)
NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)
NM_006445.4(PRPF8):c.4377G>C (p.Arg1459=)
NM_006445.4(PRPF8):c.4380T>C (p.His1460=)
NM_006445.4(PRPF8):c.4394G>A (p.Trp1465Ter) rs1911659345
NM_006445.4(PRPF8):c.440T>C (p.Met147Thr) rs1193857646
NM_006445.4(PRPF8):c.4428G>A (p.Gln1476=) rs2151116346
NM_006445.4(PRPF8):c.4428_4429del (p.Gln1476fs)
NM_006445.4(PRPF8):c.4434G>C (p.Leu1478=) rs766245358
NM_006445.4(PRPF8):c.4453C>T (p.Leu1485=) rs1427767753
NM_006445.4(PRPF8):c.445A>G (p.Ile149Val)
NM_006445.4(PRPF8):c.4464A>G (p.Thr1488=)
NM_006445.4(PRPF8):c.4477A>G (p.Thr1493Ala) rs1479391155
NM_006445.4(PRPF8):c.44C>T (p.Pro15Leu)
NM_006445.4(PRPF8):c.4508+10C>G
NM_006445.4(PRPF8):c.4508+3G>A
NM_006445.4(PRPF8):c.4508+9T>G
NM_006445.4(PRPF8):c.4509-17C>A rs2151116173
NM_006445.4(PRPF8):c.4509-18_4509-16del rs2151116172
NM_006445.4(PRPF8):c.4509-20C>G
NM_006445.4(PRPF8):c.4509-20C>T
NM_006445.4(PRPF8):c.4536T>C (p.Ser1512=)
NM_006445.4(PRPF8):c.4567C>A (p.Arg1523=) rs2151116111
NM_006445.4(PRPF8):c.4569A>G (p.Arg1523=) rs773745042
NM_006445.4(PRPF8):c.458G>A (p.Arg153Gln)
NM_006445.4(PRPF8):c.4600T>C (p.Phe1534Leu)
NM_006445.4(PRPF8):c.4608C>G (p.Leu1536=) rs2151116085
NM_006445.4(PRPF8):c.4617C>T (p.Ser1539=)
NM_006445.4(PRPF8):c.4618C>T (p.Pro1540Ser)
NM_006445.4(PRPF8):c.461A>T (p.Glu154Val)
NM_006445.4(PRPF8):c.4620G>A (p.Pro1540=)
NM_006445.4(PRPF8):c.4623C>A (p.Thr1541=)
NM_006445.4(PRPF8):c.4630C>T (p.Arg1544Ter)
NM_006445.4(PRPF8):c.4635C>T (p.Ala1545=)
NM_006445.4(PRPF8):c.4638+12T>A
NM_006445.4(PRPF8):c.4638+12T>C
NM_006445.4(PRPF8):c.4638+13G>T
NM_006445.4(PRPF8):c.4638T>C (p.Asn1546=)
NM_006445.4(PRPF8):c.4639-12T>G rs2151115955
NM_006445.4(PRPF8):c.4639-19A>C
NM_006445.4(PRPF8):c.4639-20C>T
NM_006445.4(PRPF8):c.4639-20_4639-19del rs2151115982
NM_006445.4(PRPF8):c.4673C>T (p.Thr1558Met)
NM_006445.4(PRPF8):c.4680C>T (p.Ile1560=) rs1911629033
NM_006445.4(PRPF8):c.4687C>T (p.His1563Tyr)
NM_006445.4(PRPF8):c.468A>G (p.Arg156=)
NM_006445.4(PRPF8):c.4698C>A (p.Ile1566=)
NM_006445.4(PRPF8):c.4704G>A (p.Thr1568=)
NM_006445.4(PRPF8):c.4722C>T (p.Ile1574=) rs922718068
NM_006445.4(PRPF8):c.4733G>A (p.Arg1578Gln) rs1064796991
NM_006445.4(PRPF8):c.4741T>C (p.Leu1581=) rs2151115903
NM_006445.4(PRPF8):c.4772T>C (p.Met1591Thr)
NM_006445.4(PRPF8):c.4780T>C (p.Cys1594Arg) rs1911623254
NM_006445.4(PRPF8):c.4780_4784del (p.Cys1594fs) rs1911622593
NM_006445.4(PRPF8):c.4781G>A (p.Cys1594Tyr)
NM_006445.4(PRPF8):c.4785+17G>A
NM_006445.4(PRPF8):c.4786-20C>T
NM_006445.4(PRPF8):c.4786-5T>C
NM_006445.4(PRPF8):c.4789T>C (p.Phe1597Leu)
NM_006445.4(PRPF8):c.4792G>C (p.Asp1598His) rs759664867
NM_006445.4(PRPF8):c.4793A>T (p.Asp1598Val)
NM_006445.4(PRPF8):c.47G>C (p.Gly16Ala)
NM_006445.4(PRPF8):c.4809A>G (p.Ala1603=) rs2151115519
NM_006445.4(PRPF8):c.480T>C (p.His160=)
NM_006445.4(PRPF8):c.4812G>C (p.Leu1604=)
NM_006445.4(PRPF8):c.4816A>G (p.Ile1606Val)
NM_006445.4(PRPF8):c.4827A>G (p.Val1609=)
NM_006445.4(PRPF8):c.4836G>A (p.Glu1612=)
NM_006445.4(PRPF8):c.4869C>T (p.Asn1623=)
NM_006445.4(PRPF8):c.486G>A (p.Lys162=)
NM_006445.4(PRPF8):c.4893C>T (p.Leu1631=)
NM_006445.4(PRPF8):c.4901C>G (p.Ser1634Cys)
NM_006445.4(PRPF8):c.4901C>T (p.Ser1634Phe) rs2151115488
NM_006445.4(PRPF8):c.4912A>C (p.Asn1638His)
NM_006445.4(PRPF8):c.4921C>T (p.Arg1641Trp)
NM_006445.4(PRPF8):c.4932G>A (p.Leu1644=) rs2151115471
NM_006445.4(PRPF8):c.4941C>T (p.Asp1647=)
NM_006445.4(PRPF8):c.4944C>G (p.Ser1648=)
NM_006445.4(PRPF8):c.4946+3_4946+6del
NM_006445.4(PRPF8):c.4946+8C>T
NM_006445.4(PRPF8):c.4947-14C>T
NM_006445.4(PRPF8):c.4947-15_4947-14delinsAT rs2151115297
NM_006445.4(PRPF8):c.4947-17A>C
NM_006445.4(PRPF8):c.4947-4T>C
NM_006445.4(PRPF8):c.4947-6C>T rs2151115286
NM_006445.4(PRPF8):c.4947-8A>G rs200743579
NM_006445.4(PRPF8):c.4954A>C (p.Met1652Leu)
NM_006445.4(PRPF8):c.4970C>T (p.Thr1657Ile)
NM_006445.4(PRPF8):c.4985T>C (p.Ile1662Thr)
NM_006445.4(PRPF8):c.4987G>A (p.Asp1663Asn)
NM_006445.4(PRPF8):c.4G>A (p.Ala2Thr)
NM_006445.4(PRPF8):c.5000G>A (p.Arg1667His) rs768194464
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=) rs794727562
NM_006445.4(PRPF8):c.5026A>G (p.Ile1676Val) rs1366034263
NM_006445.4(PRPF8):c.5037C>T (p.Tyr1679=) rs149173195
NM_006445.4(PRPF8):c.5038G>A (p.Ala1680Thr)
NM_006445.4(PRPF8):c.5038G>T (p.Ala1680Ser) rs1298791789
NM_006445.4(PRPF8):c.5052C>T (p.Phe1684=)
NM_006445.4(PRPF8):c.5060A>G (p.Tyr1687Cys)
NM_006445.4(PRPF8):c.5061C>T (p.Tyr1687=)
NM_006445.4(PRPF8):c.5094C>A (p.Pro1698=)
NM_006445.4(PRPF8):c.5110G>A (p.Ala1704Thr)
NM_006445.4(PRPF8):c.5112C>T (p.Ala1704=) rs2151115190
NM_006445.4(PRPF8):c.5113A>G (p.Ile1705Val)
NM_006445.4(PRPF8):c.5138+11G>T
NM_006445.4(PRPF8):c.5138+5G>T rs377003550
NM_006445.4(PRPF8):c.5142C>G (p.Ala1714=) rs2151114686
NM_006445.4(PRPF8):c.5157C>T (p.Phe1719=)
NM_006445.4(PRPF8):c.5186C>A (p.Ala1729Asp) rs2151114664
NM_006445.4(PRPF8):c.5207C>T (p.Ala1736Val)
NM_006445.4(PRPF8):c.5220G>A (p.Leu1740=)
NM_006445.4(PRPF8):c.522G>A (p.Pro174=)
NM_006445.4(PRPF8):c.5238G>A (p.Arg1746=) rs374611477
NM_006445.4(PRPF8):c.5238G>T (p.Arg1746=) rs374611477
NM_006445.4(PRPF8):c.5241C>A (p.Ile1747=)
NM_006445.4(PRPF8):c.5241C>T (p.Ile1747=)
NM_006445.4(PRPF8):c.5242C>T (p.Arg1748Cys)
NM_006445.4(PRPF8):c.5243G>A (p.Arg1748His)
NM_006445.4(PRPF8):c.5277T>C (p.Thr1759=) rs1240486575
NM_006445.4(PRPF8):c.5285A>C (p.Tyr1762Ser) rs1911519224
NM_006445.4(PRPF8):c.5308G>A (p.Glu1770Lys)
NM_006445.4(PRPF8):c.5310G>A (p.Glu1770=) rs2151114605
NM_006445.4(PRPF8):c.5313C>G (p.Leu1771=) rs2151114604
NM_006445.4(PRPF8):c.5318C>T (p.Ser1773Phe)
NM_006445.4(PRPF8):c.5325G>T (p.Gln1775His)
NM_006445.4(PRPF8):c.5340G>A (p.Val1780=)
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=) rs886052616
NM_006445.4(PRPF8):c.5353G>A (p.Val1785Ile) rs1555550982
NM_006445.4(PRPF8):c.5376+15_5376+17del
NM_006445.4(PRPF8):c.5377-15G>A rs1911506965
NM_006445.4(PRPF8):c.5377-19G>A
NM_006445.4(PRPF8):c.5377-1G>T rs1911505318
NM_006445.4(PRPF8):c.5377-4_5377-3del
NM_006445.4(PRPF8):c.5377-6_5377-4del
NM_006445.4(PRPF8):c.5377-9C>T rs1404071994
NM_006445.4(PRPF8):c.5392T>C (p.Leu1798=)
NM_006445.4(PRPF8):c.5406C>A (p.Pro1802=)
NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg) rs1597230180
NM_006445.4(PRPF8):c.5429T>C (p.Phe1810Ser) rs2151114414
NM_006445.4(PRPF8):c.5454C>T (p.Phe1818=)
NM_006445.4(PRPF8):c.5471C>T (p.Thr1824Met) rs1911502120
NM_006445.4(PRPF8):c.5491A>G (p.Lys1831Glu) rs2151114374
NM_006445.4(PRPF8):c.5495G>A (p.Arg1832His)
NM_006445.4(PRPF8):c.5505+17A>G
NM_006445.4(PRPF8):c.5506-11T>C
NM_006445.4(PRPF8):c.5506-12C>T
NM_006445.4(PRPF8):c.5506-5T>G rs2151113236
NM_006445.4(PRPF8):c.5506-8C>T
NM_006445.4(PRPF8):c.5508G>A (p.Leu1836=)
NM_006445.4(PRPF8):c.550G>C (p.Asp184His) rs2151131953
NM_006445.4(PRPF8):c.5535G>A (p.Val1845=)
NM_006445.4(PRPF8):c.5542C>T (p.Leu1848=)
NM_006445.4(PRPF8):c.5544G>C (p.Leu1848=)
NM_006445.4(PRPF8):c.5544G>T (p.Leu1848=)
NM_006445.4(PRPF8):c.5548C>T (p.Arg1850Ter) rs368223523
NM_006445.4(PRPF8):c.5552C>T (p.Ser1851Phe)
NM_006445.4(PRPF8):c.5578C>G (p.Gln1860Glu)
NM_006445.4(PRPF8):c.5594G>A (p.Arg1865Lys) rs1911407117
NM_006445.4(PRPF8):c.5594G>C (p.Arg1865Thr) rs1911407117
NM_006445.4(PRPF8):c.5598G>A (p.Lys1866=)
NM_006445.4(PRPF8):c.55G>A (p.Ala19Thr) rs2151133760
NM_006445.4(PRPF8):c.5619+14G>T
NM_006445.4(PRPF8):c.5619+15T>C
NM_006445.4(PRPF8):c.5619+2T>C rs1911406583
NM_006445.4(PRPF8):c.5619G>A (p.Glu1873=)
NM_006445.4(PRPF8):c.5620-12A>G
NM_006445.4(PRPF8):c.5620-13G>C rs2151113140
NM_006445.4(PRPF8):c.5630T>A (p.Leu1877Gln)
NM_006445.4(PRPF8):c.5642A>G (p.Asn1881Ser)
NM_006445.4(PRPF8):c.5660C>T (p.Ser1887Leu)
NM_006445.4(PRPF8):c.5662G>A (p.Glu1888Lys) rs2151113106
NM_006445.4(PRPF8):c.5674C>A (p.Pro1892Thr)
NM_006445.4(PRPF8):c.5685G>A (p.Ala1895=) rs149841154
NM_006445.4(PRPF8):c.5685G>T (p.Ala1895=) rs149841154
NM_006445.4(PRPF8):c.5691C>G (p.Leu1897=)
NM_006445.4(PRPF8):c.5707G>A (p.Gly1903Arg)
NM_006445.4(PRPF8):c.571A>G (p.Ile191Val) rs1015837182
NM_006445.4(PRPF8):c.5764G>A (p.Asp1922Asn)
NM_006445.4(PRPF8):c.5769G>A (p.Trp1923Ter)
NM_006445.4(PRPF8):c.578T>C (p.Leu193Pro)
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.5793+11C>G
NM_006445.4(PRPF8):c.5793+11C>T
NM_006445.4(PRPF8):c.5793+12G>A
NM_006445.4(PRPF8):c.5793+20A>G
NM_006445.4(PRPF8):c.5793+4T>C rs756622180
NM_006445.4(PRPF8):c.5793+8C>T
NM_006445.4(PRPF8):c.5794-15C>T rs1911324924
NM_006445.4(PRPF8):c.5794-16C>G
NM_006445.4(PRPF8):c.57C>G (p.Ala19=) rs943865335
NM_006445.4(PRPF8):c.5801C>G (p.Ser1934Cys) rs1911322438
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.5804G>T (p.Arg1935Leu)
NM_006445.4(PRPF8):c.5806C>G (p.Leu1936Val)
NM_006445.4(PRPF8):c.5808C>A (p.Leu1936=) rs760119460
NM_006445.4(PRPF8):c.5808C>T (p.Leu1936=) rs760119460
NM_006445.4(PRPF8):c.580G>C (p.Glu194Gln)
NM_006445.4(PRPF8):c.5811C>T (p.Ile1937=)
NM_006445.4(PRPF8):c.5814G>A (p.Leu1938=)
NM_006445.4(PRPF8):c.5818C>T (p.Leu1940=) rs1054998374
NM_006445.4(PRPF8):c.5840A>G (p.Asn1947Ser) rs1555550610
NM_006445.4(PRPF8):c.5848G>A (p.Ala1950Thr) rs2151112459
NM_006445.4(PRPF8):c.5849C>A (p.Ala1950Glu)
NM_006445.4(PRPF8):c.5864A>G (p.Lys1955Arg) rs1597227679
NM_006445.4(PRPF8):c.5866C>G (p.Pro1956Ala)
NM_006445.4(PRPF8):c.5870A>T (p.Asp1957Val) rs1567676517
NM_006445.4(PRPF8):c.5871C>G (p.Asp1957Glu)
NM_006445.4(PRPF8):c.5874G>A (p.Lys1958=)
NM_006445.4(PRPF8):c.5875A>G (p.Thr1959Ala)
NM_006445.4(PRPF8):c.5878A>T (p.Thr1960Ser)
NM_006445.4(PRPF8):c.5889A>C (p.Glu1963Asp)
NM_006445.4(PRPF8):c.5889A>G (p.Glu1963=) rs1597227637
NM_006445.4(PRPF8):c.5898C>G (p.His1966Gln)
NM_006445.4(PRPF8):c.5915C>A (p.Thr1972Asn) rs1167214600
NM_006445.4(PRPF8):c.5920G>A (p.Glu1974Lys)
NM_006445.4(PRPF8):c.592G>C (p.Glu198Gln)
NM_006445.4(PRPF8):c.5930T>C (p.Ile1977Thr) rs1420322473
NM_006445.4(PRPF8):c.5937C>G (p.Val1979=) rs774881508
NM_006445.4(PRPF8):c.5937C>T (p.Val1979=)
NM_006445.4(PRPF8):c.5943G>A (p.Val1981=) rs758937794
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=) rs758937794
NM_006445.4(PRPF8):c.5949C>T (p.Leu1983=) rs2151112406
NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg) rs1911312551
NM_006445.4(PRPF8):c.5973C>T (p.Tyr1991=)
NM_006445.4(PRPF8):c.5974G>A (p.Gly1992Ser)
NM_006445.4(PRPF8):c.5986_5987+2del
NM_006445.4(PRPF8):c.5987+14G>A
NM_006445.4(PRPF8):c.5987+18G>T
NM_006445.4(PRPF8):c.5987+19G>A
NM_006445.4(PRPF8):c.5987+6C>T
NM_006445.4(PRPF8):c.5988-19A>G
NM_006445.4(PRPF8):c.59C>G (p.Pro20Arg) rs769676574
NM_006445.4(PRPF8):c.59C>T (p.Pro20Leu)
NM_006445.4(PRPF8):c.6012A>G (p.Gln2004=)
NM_006445.4(PRPF8):c.6024A>C (p.Arg2008=)
NM_006445.4(PRPF8):c.602C>A (p.Ala201Asp) rs982996032
NM_006445.4(PRPF8):c.603C>T (p.Ala201=) rs148215037
NM_006445.4(PRPF8):c.6053C>T (p.Ala2018Val)
NM_006445.4(PRPF8):c.6059C>A (p.Ser2020Ter)
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
NM_006445.4(PRPF8):c.6065A>G (p.Gln2022Arg)
NM_006445.4(PRPF8):c.6066G>A (p.Gln2022=)
NM_006445.4(PRPF8):c.6068G>A (p.Arg2023Gln) rs2151111382
NM_006445.4(PRPF8):c.6134G>A (p.Arg2045His)
NM_006445.4(PRPF8):c.6146A>G (p.Lys2049Arg)
NM_006445.4(PRPF8):c.6153C>A (p.Gly2051=) rs771036042
NM_006445.4(PRPF8):c.6153C>T (p.Gly2051=) rs771036042
NM_006445.4(PRPF8):c.6159G>C (p.Glu2053Asp)
NM_006445.4(PRPF8):c.6172_6283del112 (p.Asn2061fs)
NM_006445.4(PRPF8):c.6177C>T (p.Thr2059=)
NM_006445.4(PRPF8):c.6178A>G (p.Ser2060Gly)
NM_006445.4(PRPF8):c.6185A>G (p.Tyr2062Cys) rs1911208942
NM_006445.4(PRPF8):c.6189G>T (p.Glu2063Asp) rs2151111316
NM_006445.4(PRPF8):c.6191C>A (p.Thr2064Asn)
NM_006445.4(PRPF8):c.6192_6193delinsAG (p.Gln2065Glu) rs1911208576
NM_006445.4(PRPF8):c.6194A>G (p.Gln2065Arg) rs1911208451
NM_006445.4(PRPF8):c.61C>A (p.Leu21Ile)
NM_006445.4(PRPF8):c.6208A>G (p.Lys2070Glu)
NM_006445.4(PRPF8):c.6213T>C (p.Thr2071=)
NM_006445.4(PRPF8):c.621C>T (p.Phe207=) rs199971966
NM_006445.4(PRPF8):c.6220A>C (p.Arg2074=)
NM_006445.4(PRPF8):c.6224T>C (p.Val2075Ala)
NM_006445.4(PRPF8):c.6227+15G>A
NM_006445.4(PRPF8):c.6227+8C>G
NM_006445.4(PRPF8):c.6228-17T>C
NM_006445.4(PRPF8):c.6228-22_6228-17del
NM_006445.4(PRPF8):c.6228-4T>A
NM_006445.4(PRPF8):c.6228-6T>G
NM_006445.4(PRPF8):c.6230C>A (p.Ala2077Asp) rs2151111227
NM_006445.4(PRPF8):c.6245A>G (p.Asn2082Ser)
NM_006445.4(PRPF8):c.6250C>G (p.His2084Asp) rs1911199156
NM_006445.4(PRPF8):c.625G>A (p.Asp209Asn)
NM_006445.4(PRPF8):c.6267C>T (p.His2089=)
NM_006445.4(PRPF8):c.6268A>G (p.Ile2090Val) rs1911198453
NM_006445.4(PRPF8):c.6272A>G (p.Tyr2091Cys) rs2151111203
NM_006445.4(PRPF8):c.6286G>A (p.Asp2096Asn)
NM_006445.4(PRPF8):c.6289A>G (p.Ile2097Val) rs2151111193
NM_006445.4(PRPF8):c.6299C>T (p.Thr2100Ile) rs2151111184
NM_006445.4(PRPF8):c.6303C>T (p.Gly2101=)
NM_006445.4(PRPF8):c.6315C>T (p.Ile2105=)
NM_006445.4(PRPF8):c.6324G>A (p.Lys2108=)
NM_006445.4(PRPF8):c.6330G>C (p.Val2110=)
NM_006445.4(PRPF8):c.6339G>A (p.Lys2113=) rs2151111167
NM_006445.4(PRPF8):c.6352T>C (p.Ser2118Pro)
NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe) rs387906971
NM_006445.4(PRPF8):c.6363G>A (p.Arg2121=)
NM_006445.4(PRPF8):c.6365C>A (p.Ala2122Asp)
NM_006445.4(PRPF8):c.6369+14C>T
NM_006445.4(PRPF8):c.6369+3_6369+6del
NM_006445.4(PRPF8):c.6369+4A>T rs2151111149
NM_006445.4(PRPF8):c.636G>A (p.Pro212=)
NM_006445.4(PRPF8):c.636_637inv (p.Pro212_Leu213=)
NM_006445.4(PRPF8):c.6370-14C>T
NM_006445.4(PRPF8):c.6370-17dup
NM_006445.4(PRPF8):c.6370-20C>G
NM_006445.4(PRPF8):c.6370-4C>T
NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu) rs1360391558
NM_006445.4(PRPF8):c.6379dup (p.Tyr2127fs) rs1555550180
NM_006445.4(PRPF8):c.6384A>G (p.Leu2128=) rs2151109823
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His) rs1911084608
NM_006445.4(PRPF8):c.6444G>A (p.Val2148=)
NM_006445.4(PRPF8):c.6446C>T (p.Pro2149Leu)
NM_006445.4(PRPF8):c.6446_6447insCAC (p.Pro2149_Gln2150insThr) rs1911082583
NM_006445.4(PRPF8):c.6446_6462delinsACCACCACACCATG (p.Pro2149_His2154delinsHisHisHisThrMet)
NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg) rs1911081749
NM_006445.4(PRPF8):c.644A>G (p.Asp215Gly) rs1567692547
NM_006445.4(PRPF8):c.6453G>C (p.Trp2151Cys) rs2151109782
NM_006445.4(PRPF8):c.645C>T (p.Asp215=) rs758699232
NM_006445.4(PRPF8):c.6461A>G (p.His2154Arg) rs1911081044
NM_006445.4(PRPF8):c.6462C>A (p.His2154Gln)
NM_006445.4(PRPF8):c.6465G>A (p.Gln2155=)
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro) rs2151109770
NM_006445.4(PRPF8):c.6468C>G (p.Thr2156=)
NM_006445.4(PRPF8):c.6468C>T (p.Thr2156=) rs376127387
NM_006445.4(PRPF8):c.6469G>A (p.Val2157Met)
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) rs878853388
NM_006445.4(PRPF8):c.6473_6474del (p.His2158fs)
NM_006445.4(PRPF8):c.6474C>T (p.His2158=)
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del) rs1597224402
NM_006445.4(PRPF8):c.6483C>T (p.Gly2161=)
NM_006445.4(PRPF8):c.6498T>C (p.His2166=)
NM_006445.4(PRPF8):c.64C>T (p.Pro22Ser)
NM_006445.4(PRPF8):c.6505C>T (p.Leu2169Phe)
NM_006445.4(PRPF8):c.6510+13G>A
NM_006445.4(PRPF8):c.6510+17G>A
NM_006445.4(PRPF8):c.6510+17G>T rs1302506290
NM_006445.4(PRPF8):c.6510+20C>G
NM_006445.4(PRPF8):c.6510+5T>C
NM_006445.4(PRPF8):c.6511-12C>T
NM_006445.4(PRPF8):c.6511-13T>C
NM_006445.4(PRPF8):c.6511-19T>C
NM_006445.4(PRPF8):c.6511-20G>T
NM_006445.4(PRPF8):c.6511-9T>C
NM_006445.4(PRPF8):c.653A>G (p.Lys218Arg) rs1912946069
NM_006445.4(PRPF8):c.654-19C>T
NM_006445.4(PRPF8):c.6546C>G (p.Pro2182=) rs1382614719
NM_006445.4(PRPF8):c.654G>A (p.Lys218=)
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro) rs929492529
NM_006445.4(PRPF8):c.656A>G (p.Tyr219Cys)
NM_006445.4(PRPF8):c.657T>C (p.Tyr219=)
NM_006445.4(PRPF8):c.6582C>T (p.Thr2194=)
NM_006445.4(PRPF8):c.658G>A (p.Val220Ile)
NM_006445.4(PRPF8):c.6595A>G (p.Ile2199Val)
NM_006445.4(PRPF8):c.6614C>T (p.Ser2205Phe)
NM_006445.4(PRPF8):c.6615T>C (p.Ser2205=)
NM_006445.4(PRPF8):c.6634A>G (p.Ile2212Val)
NM_006445.4(PRPF8):c.6650+4G>A
NM_006445.4(PRPF8):c.6650+6C>T
NM_006445.4(PRPF8):c.6651-19G>C
NM_006445.4(PRPF8):c.6651-3C>A rs1467838102
NM_006445.4(PRPF8):c.6663C>T (p.Gly2221=)
NM_006445.4(PRPF8):c.6666C>T (p.Ser2222=)
NM_006445.4(PRPF8):c.6669T>C (p.Cys2223=)
NM_006445.4(PRPF8):c.668C>T (p.Ser223Phe)
NM_006445.4(PRPF8):c.6690G>A (p.Leu2230=)
NM_006445.4(PRPF8):c.669C>T (p.Ser223=)
NM_006445.4(PRPF8):c.6702C>G (p.Gly2234=) rs1911040337
NM_006445.4(PRPF8):c.6706G>A (p.Glu2236Lys)
NM_006445.4(PRPF8):c.6717C>T (p.Arg2239=)
NM_006445.4(PRPF8):c.6735C>T (p.Gly2245=) rs774123152
NM_006445.4(PRPF8):c.6738C>T (p.Asn2246=)
NM_006445.4(PRPF8):c.6740A>G (p.Asn2247Ser)
NM_006445.4(PRPF8):c.6762A>C (p.Ser2254=) rs372075957
NM_006445.4(PRPF8):c.6762A>T (p.Ser2254=) rs372075957
NM_006445.4(PRPF8):c.6778C>T (p.Gln2260Ter)
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile) rs886052611
NM_006445.4(PRPF8):c.6786G>A (p.Leu2262=) rs779108226
NM_006445.4(PRPF8):c.6786G>T (p.Leu2262=)
NM_006445.4(PRPF8):c.6787C>T (p.Leu2263=)
NM_006445.4(PRPF8):c.6791C>T (p.Ser2264Leu) rs1911033774
NM_006445.4(PRPF8):c.6793G>C (p.Asp2265His) rs2151109279
NM_006445.4(PRPF8):c.6795C>T (p.Asp2265=) rs1911033298
NM_006445.4(PRPF8):c.6807C>T (p.Gly2269=)
NM_006445.4(PRPF8):c.680G>T (p.Arg227Leu) rs11559304
NM_006445.4(PRPF8):c.6812T>A (p.Phe2271Tyr)
NM_006445.4(PRPF8):c.6819C>T (p.Val2273=)
NM_006445.4(PRPF8):c.6820C>T (p.Pro2274Ser)
NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu) rs1597223721
NM_006445.4(PRPF8):c.6823G>A (p.Ala2275Thr)
NM_006445.4(PRPF8):c.6823G>C (p.Ala2275Pro)
NM_006445.4(PRPF8):c.6825C>T (p.Ala2275=)
NM_006445.4(PRPF8):c.6833C>G (p.Ser2278Trp)
NM_006445.4(PRPF8):c.6833C>T (p.Ser2278Leu) rs1327478855
NM_006445.4(PRPF8):c.6837G>C (p.Trp2279Cys)
NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys) rs2151109229
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp) rs1911029601
NM_006445.4(PRPF8):c.6852G>A (p.Met2284Ile)
NM_006445.4(PRPF8):c.6853+3A>C
NM_006445.4(PRPF8):c.6854-13C>T
NM_006445.4(PRPF8):c.6854-14C>A rs573493017
NM_006445.4(PRPF8):c.6854-14C>G
NM_006445.4(PRPF8):c.6854-15T>A
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_006445.4(PRPF8):c.686A>G (p.Gln229Arg)
NM_006445.4(PRPF8):c.6882T>C (p.Tyr2294=)
NM_006445.4(PRPF8):c.6891G>A (p.Gln2297=)
NM_006445.4(PRPF8):c.6895G>A (p.Ala2299Thr)
NM_006445.4(PRPF8):c.6898A>G (p.Asn2300Asp)
NM_006445.4(PRPF8):c.68A>T (p.Asp23Val)
NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr) rs121434239
NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser) rs121434239
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu) rs2151109012
NM_006445.4(PRPF8):c.6906A>C (p.Lys2302Asn)
NM_006445.4(PRPF8):c.6906A>T (p.Lys2302Asn)
NM_006445.4(PRPF8):c.6910T>C (p.Phe2304Leu) rs1911004419
NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val) rs1911004419
NM_006445.4(PRPF8):c.6911T>G (p.Phe2304Cys)
NM_006445.4(PRPF8):c.6912C>A (p.Phe2304Leu)
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6918C>G (p.His2306Gln) rs756489004
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp) rs2151108985
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) rs121434236
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) rs121434238
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) rs1911001854
NM_006445.4(PRPF8):c.6930G>T (p.Arg2310Ser)
NM_006445.4(PRPF8):c.6931C>T (p.Pro2311Ser)
NM_006445.4(PRPF8):c.6938A>C (p.His2313Pro)
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg) rs1555550045
NM_006445.4(PRPF8):c.6939C>T (p.His2313=)
NM_006445.4(PRPF8):c.693A>G (p.Thr231=)
NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser) rs1911000944
NM_006445.4(PRPF8):c.6942C>A (p.Phe2314Leu)
NM_006445.4(PRPF8):c.6942C>G (p.Phe2314Leu) rs1911000715
NM_006445.4(PRPF8):c.6946_6947dup (p.Asn2316fs)
NM_006445.4(PRPF8):c.6948C>T (p.Asn2316=) rs2151108957
NM_006445.4(PRPF8):c.6949T>A (p.Phe2317Ile) rs1027069873
NM_006445.4(PRPF8):c.6954_6957dup (p.Leu2320fs)
NM_006445.4(PRPF8):c.6956_6957dup (p.Leu2320fs)
NM_006445.4(PRPF8):c.6957C>G (p.Leu2319=) rs1910998898
NM_006445.4(PRPF8):c.6959T>G (p.Leu2320Arg)
NM_006445.4(PRPF8):c.6961C>T (p.Gln2321Ter)
NM_006445.4(PRPF8):c.6962A>T (p.Gln2321Leu)
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp) rs766407266
NM_006445.4(PRPF8):c.6967G>A (p.Gly2323Arg) rs1910997588
NM_006445.4(PRPF8):c.6968G>A (p.Gly2323Glu) rs2151108937
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006445.4(PRPF8):c.6974_6994del (p.Val2325_Glu2331del) rs1910994325
NM_006445.4(PRPF8):c.6976del (p.Tyr2326fs)
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter) rs773363890
NM_006445.4(PRPF8):c.6981T>C (p.Ser2327=)
NM_006445.4(PRPF8):c.6981dup (p.Ala2328fs)
NM_006445.4(PRPF8):c.6983C>T (p.Ala2328Val)
NM_006445.4(PRPF8):c.6986_6990dup (p.Glu2331fs) rs2151108913
NM_006445.4(PRPF8):c.6989G>C (p.Arg2330Pro) rs1192693354
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) rs1597223220
NM_006445.4(PRPF8):c.6991G>T (p.Glu2331Ter) rs1597223220
NM_006445.4(PRPF8):c.6991del (p.Glu2331fs) rs1910994795
NM_006445.4(PRPF8):c.6994G>C (p.Asp2332His)
NM_006445.4(PRPF8):c.6994G>T (p.Asp2332Tyr)
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs) rs1597223214
NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu) rs1162009923
NM_006445.4(PRPF8):c.6997C>G (p.Leu2333Val)
NM_006445.4(PRPF8):c.6C>T (p.Ala2=) rs2151133814
NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn) rs1193604660
NM_006445.4(PRPF8):c.7002T>G (p.Tyr2334Ter) rs757906173
NM_006445.4(PRPF8):c.7003_*27del (p.Ala2335_Ter2336del)
NM_006445.4(PRPF8):c.7007G>C (p.Ter2336Ser) rs778438685
NM_006445.4(PRPF8):c.7008A>T (p.Ter2336Cys)
NM_006445.4(PRPF8):c.703A>G (p.Met235Val)
NM_006445.4(PRPF8):c.716A>G (p.Tyr239Cys)
NM_006445.4(PRPF8):c.735C>T (p.Leu245=)
NM_006445.4(PRPF8):c.736C>T (p.Leu246=)
NM_006445.4(PRPF8):c.761A>G (p.Tyr254Cys)
NM_006445.4(PRPF8):c.762C>T (p.Tyr254=)
NM_006445.4(PRPF8):c.76T>A (p.Ser26Thr) rs2151133732
NM_006445.4(PRPF8):c.771G>C (p.Leu257=) rs2151131643
NM_006445.4(PRPF8):c.777T>C (p.Asp259=)
NM_006445.4(PRPF8):c.77C>T (p.Ser26Leu)
NM_006445.4(PRPF8):c.787T>C (p.Phe263Leu)
NM_006445.4(PRPF8):c.789C>T (p.Phe263=)
NM_006445.4(PRPF8):c.795G>A (p.Thr265=) rs1344808305
NM_006445.4(PRPF8):c.802G>A (p.Ala268Thr) rs1280004435
NM_006445.4(PRPF8):c.803C>A (p.Ala268Glu)
NM_006445.4(PRPF8):c.805C>G (p.Leu269Val)
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.833A>G (p.Lys278Arg)
NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln) rs1912920951
NM_006445.4(PRPF8):c.856A>G (p.Ile286Val)
NM_006445.4(PRPF8):c.858C>A (p.Ile286=)
NM_006445.4(PRPF8):c.860A>G (p.Asn287Ser)
NM_006445.4(PRPF8):c.866+3G>A
NM_006445.4(PRPF8):c.866A>G (p.Gln289Arg)
NM_006445.4(PRPF8):c.867-14A>C rs1912894972
NM_006445.4(PRPF8):c.867-15G>T
NM_006445.4(PRPF8):c.867-16T>C
NM_006445.4(PRPF8):c.867-4C>T
NM_006445.4(PRPF8):c.867-5C>G
NM_006445.4(PRPF8):c.867-5C>T rs538689803
NM_006445.4(PRPF8):c.867-7A>T
NM_006445.4(PRPF8):c.869A>G (p.Asp290Gly)
NM_006445.4(PRPF8):c.87_98dup (p.Lys33_Ala34insLeuGlnGluLys)
NM_006445.4(PRPF8):c.882T>C (p.Asn294=)
NM_006445.4(PRPF8):c.890A>T (p.Asn297Ile)
NM_006445.4(PRPF8):c.890_891delinsGC (p.Asn297Ser) rs2151131273
NM_006445.4(PRPF8):c.896T>C (p.Ile299Thr)
NM_006445.4(PRPF8):c.898A>G (p.Asn300Asp) rs2151131263
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
NM_006445.4(PRPF8):c.915G>T (p.Arg305=)
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296
NM_006445.4(PRPF8):c.927C>A (p.Arg309=)
NM_006445.4(PRPF8):c.93G>A (p.Gln31=) rs2151133720
NM_006445.4(PRPF8):c.944C>T (p.Ala315Val) rs773955596
NM_006445.4(PRPF8):c.945T>C (p.Ala315=)
NM_006445.4(PRPF8):c.954C>T (p.Tyr318=) rs1912887718
NM_006445.4(PRPF8):c.957G>T (p.Leu319Phe)
NM_006445.4(PRPF8):c.961A>G (p.Asn321Asp)
NM_006445.4(PRPF8):c.964A>T (p.Asn322Tyr)
NM_006445.4(PRPF8):c.965A>G (p.Asn322Ser)
NM_006445.4(PRPF8):c.971C>T (p.Pro324Leu)
NM_006445.4(PRPF8):c.978T>C (p.His326=)
NM_006445.4(PRPF8):c.987C>T (p.Leu329=) rs2151131172
NM_006445.4(PRPF8):c.98A>T (p.Lys33Ile)
NM_006445.4(PRPF8):c.990C>G (p.Thr330=) rs1409492597
NM_006445.4(PRPF8):c.992+10del rs2151131166
NM_006445.4(PRPF8):c.992+20_992+22del rs746256933
NM_006445.4(PRPF8):c.993-15T>C rs2151131100
NM_006445.4(PRPF8):c.993-20G>C
NM_006445.4(PRPF8):c.993-5T>C
NM_006445.4(PRPF8):c.994T>A (p.Tyr332Asn)

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