ClinVar Miner

List of variants in gene RPGRIP1 studied for Cone-rod dystrophy 13; Leber congenital amaurosis 6

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Gene type:
ClinVar version:
Total variants: 814
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_020366.4(RPGRIP1):c.2215+7G>A rs7157052 0.19970
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908 0.00689
NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255 0.00650
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_020366.4(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989 0.00181
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.490+11A>C rs200740893 0.00076
NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=) rs372813238 0.00073
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.1796C>T (p.Pro599Leu) rs368192802 0.00048
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=) rs369515171 0.00048
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_020366.4(RPGRIP1):c.1307-18T>G rs377024599 0.00036
NM_020366.4(RPGRIP1):c.2949G>A (p.Lys983=) rs371419221 0.00036
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.1287T>G (p.Leu429=) rs368092579 0.00026
NM_020366.4(RPGRIP1):c.2529C>T (p.Asn843=) rs74034911 0.00026
NM_020366.4(RPGRIP1):c.2711-13G>T rs369991630 0.00026
NM_020366.4(RPGRIP1):c.2367+19C>T rs367769049 0.00025
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.913G>A (p.Glu305Lys) rs752956324 0.00023
NM_020366.4(RPGRIP1):c.218+6T>C rs370643056 0.00021
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_020366.4(RPGRIP1):c.907G>A (p.Ala303Thr) rs200168103 0.00020
NM_020366.4(RPGRIP1):c.1991A>G (p.His664Arg) rs767180524 0.00018
NM_020366.4(RPGRIP1):c.3525T>C (p.Phe1175=) rs371400132 0.00018
NM_020366.4(RPGRIP1):c.3644C>T (p.Pro1215Leu) rs1295657393 0.00018
NM_020366.4(RPGRIP1):c.801-14G>A rs368869746 0.00018
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.3749-16T>C rs369756217 0.00016
NM_020366.4(RPGRIP1):c.85+12G>A rs201152775 0.00016
NM_020366.4(RPGRIP1):c.2942G>A (p.Arg981Gln) rs376213645 0.00015
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020366.4(RPGRIP1):c.1761T>C (p.Ser587=) rs559041866 0.00014
NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle) rs774522001 0.00014
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00014
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.1468-14G>A rs142196176 0.00011
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu) rs543867152 0.00011
NM_020366.4(RPGRIP1):c.2710+11G>A rs368181053 0.00011
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020366.4(RPGRIP1):c.2208A>G (p.Thr736=) rs549165176 0.00010
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) rs759254680 0.00010
NM_020366.4(RPGRIP1):c.1078-11A>G rs368149716 0.00009
NM_020366.4(RPGRIP1):c.189T>C (p.Leu63=) rs777977490 0.00009
NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys) rs199589566 0.00009
NM_020366.4(RPGRIP1):c.375A>G (p.Gln125=) rs372557648 0.00009
NM_020366.4(RPGRIP1):c.528G>A (p.Ser176=) rs375351235 0.00009
NM_020366.4(RPGRIP1):c.1306+3A>G rs374260998 0.00008
NM_020366.4(RPGRIP1):c.1652A>G (p.Asn551Ser) rs373415938 0.00008
NM_020366.4(RPGRIP1):c.1772A>G (p.Lys591Arg) rs745899255 0.00008
NM_020366.4(RPGRIP1):c.2449G>A (p.Gly817Arg) rs764884763 0.00008
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_020366.4(RPGRIP1):c.2749G>A (p.Gly917Arg) rs771761377 0.00008
NM_020366.4(RPGRIP1):c.86-20A>T rs372867069 0.00008
NM_020366.4(RPGRIP1):c.889T>C (p.Leu297=) rs1010355460 0.00008
NM_020366.4(RPGRIP1):c.2600G>A (p.Arg867Gln) rs375012807 0.00007
NM_020366.4(RPGRIP1):c.2669G>A (p.Arg890Gln) rs374913550 0.00007
NM_020366.4(RPGRIP1):c.1470A>G (p.Pro490=) rs374411851 0.00006
NM_020366.4(RPGRIP1):c.2216-11C>G rs373502907 0.00006
NM_020366.4(RPGRIP1):c.2297A>G (p.Asn766Ser) rs183607403 0.00006
NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=) rs375546482 0.00006
NM_020366.4(RPGRIP1):c.2439T>C (p.Ser813=) rs774802954 0.00006
NM_020366.4(RPGRIP1):c.3022G>C (p.Gly1008Arg) rs377551155 0.00006
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074 0.00006
NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856 0.00006
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg) rs372226099 0.00006
NM_020366.4(RPGRIP1):c.3512T>C (p.Ile1171Thr) rs202036914 0.00006
NM_020366.4(RPGRIP1):c.3532+8A>C rs533130331 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_020366.4(RPGRIP1):c.930+12G>T rs373627836 0.00006
NM_020366.4(RPGRIP1):c.1103A>G (p.Glu368Gly) rs774569329 0.00005
NM_020366.4(RPGRIP1):c.1518T>C (p.Asn506=) rs757821677 0.00005
NM_020366.4(RPGRIP1):c.1588C>T (p.Arg530Cys) rs373592510 0.00005
NM_020366.4(RPGRIP1):c.2203G>T (p.Ala735Ser) rs769776142 0.00005
NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His) rs28937883 0.00005
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_020366.4(RPGRIP1):c.2794C>G (p.Pro932Ala) rs773491339 0.00005
NM_020366.4(RPGRIP1):c.328C>T (p.Arg110Trp) rs765387527 0.00005
NM_020366.4(RPGRIP1):c.3339+12G>A rs377219564 0.00005
NM_020366.4(RPGRIP1):c.353G>A (p.Arg118His) rs369530487 0.00005
NM_020366.4(RPGRIP1):c.490+14C>T rs776461437 0.00005
NM_020366.4(RPGRIP1):c.543G>A (p.Ala181=) rs774735061 0.00005
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter) rs375859404 0.00004
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.1488A>G (p.Gln496=) rs752913201 0.00004
NM_020366.4(RPGRIP1):c.153T>C (p.Phe51=) rs199606938 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.1581T>C (p.Ile527=) rs1198707436 0.00004
NM_020366.4(RPGRIP1):c.1608T>C (p.Tyr536=) rs371513311 0.00004
NM_020366.4(RPGRIP1):c.2083C>A (p.Gln695Lys) rs377020451 0.00004
NM_020366.4(RPGRIP1):c.218+1G>T rs546692544 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020366.4(RPGRIP1):c.2466A>G (p.Pro822=) rs757884304 0.00004
NM_020366.4(RPGRIP1):c.2478C>T (p.Tyr826=) rs369908041 0.00004
NM_020366.4(RPGRIP1):c.2490C>T (p.Thr830=) rs748441119 0.00004
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=) rs201639860 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.295G>C (p.Glu99Gln) rs1436942223 0.00004
NM_020366.4(RPGRIP1):c.3037G>A (p.Val1013Ile) rs1289388105 0.00004
NM_020366.4(RPGRIP1):c.3220C>T (p.Pro1074Ser) rs533471221 0.00004
NM_020366.4(RPGRIP1):c.3239-15C>G rs761280426 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.3451C>T (p.Leu1151=) rs748933746 0.00004
NM_020366.4(RPGRIP1):c.3617+16C>G rs759638122 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020366.4(RPGRIP1):c.3832A>G (p.Lys1278Glu) rs768759217 0.00004
NM_020366.4(RPGRIP1):c.432A>G (p.Gln144=) rs751684215 0.00004
NM_020366.4(RPGRIP1):c.437G>A (p.Gly146Glu) rs755600406 0.00004
NM_020366.4(RPGRIP1):c.800+15C>T rs768757891 0.00004
NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=) rs201186199 0.00004
NM_020366.4(RPGRIP1):c.993A>G (p.Ala331=) rs773504349 0.00004
NM_020366.4(RPGRIP1):c.1012A>G (p.Lys338Glu) rs766519169 0.00003
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.1943C>A (p.Thr648Asn) rs780101671 0.00003
NM_020366.4(RPGRIP1):c.2148A>C (p.Ala716=) rs781305621 0.00003
NM_020366.4(RPGRIP1):c.219-4A>G rs755936973 0.00003
NM_020366.4(RPGRIP1):c.2303G>A (p.Arg768Gln) rs770870865 0.00003
NM_020366.4(RPGRIP1):c.3170A>T (p.His1057Leu) rs201521970 0.00003
NM_020366.4(RPGRIP1):c.3533-4A>G rs925349418 0.00003
NM_020366.4(RPGRIP1):c.3579G>A (p.Leu1193=) rs779437287 0.00003
NM_020366.4(RPGRIP1):c.3749-6C>A rs373373799 0.00003
NM_020366.4(RPGRIP1):c.39A>G (p.Pro13=) rs769066205 0.00003
NM_020366.4(RPGRIP1):c.427G>A (p.Val143Ile) rs766604917 0.00003
NM_020366.4(RPGRIP1):c.686G>T (p.Ser229Ile) rs768832924 0.00003
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val) rs187598648 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1173C>G (p.Ser391Arg) rs373962100 0.00002
NM_020366.4(RPGRIP1):c.1295C>T (p.Ser432Phe) rs190985984 0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020366.4(RPGRIP1):c.1464C>T (p.Ile488=) rs370711678 0.00002
NM_020366.4(RPGRIP1):c.1578T>C (p.Leu526=) rs371653245 0.00002
NM_020366.4(RPGRIP1):c.1599C>T (p.Asn533=) rs191796176 0.00002
NM_020366.4(RPGRIP1):c.163G>A (p.Glu55Lys) rs530008238 0.00002
NM_020366.4(RPGRIP1):c.1642G>A (p.Asp548Asn) rs1223339694 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_020366.4(RPGRIP1):c.2112C>T (p.His704=) rs764999000 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_020366.4(RPGRIP1):c.2382T>C (p.Ser794=) rs753463994 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020366.4(RPGRIP1):c.2479C>T (p.Arg827Cys) rs985883884 0.00002
NM_020366.4(RPGRIP1):c.2632G>A (p.Glu878Lys) rs1019416252 0.00002
NM_020366.4(RPGRIP1):c.2711-2A>G rs766443371 0.00002
NM_020366.4(RPGRIP1):c.2932G>A (p.Gly978Ser) rs754582695 0.00002
NM_020366.4(RPGRIP1):c.3238+4T>C rs748207531 0.00002
NM_020366.4(RPGRIP1):c.3289G>A (p.Asp1097Asn) rs779356445 0.00002
NM_020366.4(RPGRIP1):c.3428A>G (p.Tyr1143Cys) rs765299022 0.00002
NM_020366.4(RPGRIP1):c.3582C>T (p.Phe1194=) rs746471434 0.00002
NM_020366.4(RPGRIP1):c.3760G>A (p.Glu1254Lys) rs370728861 0.00002
NM_020366.4(RPGRIP1):c.3779T>C (p.Ile1260Thr) rs752222755 0.00002
NM_020366.4(RPGRIP1):c.3821A>G (p.His1274Arg) rs758718790 0.00002
NM_020366.4(RPGRIP1):c.3859T>C (p.Ter1287Arg) rs1029178575 0.00002
NM_020366.4(RPGRIP1):c.468G>A (p.Pro156=) rs1486358089 0.00002
NM_020366.4(RPGRIP1):c.594T>C (p.Ser198=) rs764044384 0.00002
NM_020366.4(RPGRIP1):c.654A>G (p.Leu218=) rs755671651 0.00002
NM_020366.4(RPGRIP1):c.678C>A (p.Ile226=) rs368948798 0.00002
NM_020366.4(RPGRIP1):c.683C>T (p.Ala228Val) rs756504836 0.00002
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533 0.00002
NM_020366.4(RPGRIP1):c.987C>T (p.Leu329=) rs762003618 0.00002
NM_020366.4(RPGRIP1):c.1018G>T (p.Ala340Ser) rs1881555303 0.00001
NM_020366.4(RPGRIP1):c.1077+19A>T rs975867738 0.00001
NM_020366.4(RPGRIP1):c.1078-4T>G rs548990299 0.00001
NM_020366.4(RPGRIP1):c.1134T>C (p.Tyr378=) rs1395270436 0.00001
NM_020366.4(RPGRIP1):c.1135G>A (p.Asp379Asn) rs758038121 0.00001
NM_020366.4(RPGRIP1):c.1185C>T (p.Pro395=) rs961245689 0.00001
NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter) rs775425686 0.00001
NM_020366.4(RPGRIP1):c.1238T>G (p.Leu413Arg) rs1486475994 0.00001
NM_020366.4(RPGRIP1):c.1248G>A (p.Gln416=) rs751275677 0.00001
NM_020366.4(RPGRIP1):c.128G>A (p.Arg43Gln) rs762187880 0.00001
NM_020366.4(RPGRIP1):c.1326G>T (p.Lys442Asn) rs375450848 0.00001
NM_020366.4(RPGRIP1):c.1340A>G (p.Asn447Ser) rs1342579243 0.00001
NM_020366.4(RPGRIP1):c.1439C>G (p.Ala480Gly) rs1882241075 0.00001
NM_020366.4(RPGRIP1):c.1446G>C (p.Leu482Phe) rs200541068 0.00001
NM_020366.4(RPGRIP1):c.1467+1G>A rs1167313603 0.00001
NM_020366.4(RPGRIP1):c.1468-8C>T rs766228869 0.00001
NM_020366.4(RPGRIP1):c.1475A>G (p.Glu492Gly) rs1161752701 0.00001
NM_020366.4(RPGRIP1):c.1519G>A (p.Glu507Lys) rs1882436936 0.00001
NM_020366.4(RPGRIP1):c.1544C>A (p.Thr515Asn) rs762856248 0.00001
NM_020366.4(RPGRIP1):c.1612-16C>T rs372233468 0.00001
NM_020366.4(RPGRIP1):c.162C>T (p.Arg54=) rs765765074 0.00001
NM_020366.4(RPGRIP1):c.1634C>T (p.Thr545Ile) rs778389059 0.00001
NM_020366.4(RPGRIP1):c.1650T>C (p.Asp550=) rs369088337 0.00001
NM_020366.4(RPGRIP1):c.1688G>A (p.Arg563Gln) rs145055116 0.00001
NM_020366.4(RPGRIP1):c.1726G>A (p.Glu576Lys) rs1448903303 0.00001
NM_020366.4(RPGRIP1):c.1791C>T (p.Thr597=) rs1416373215 0.00001
NM_020366.4(RPGRIP1):c.1856C>T (p.Ser619Phe) rs779121574 0.00001
NM_020366.4(RPGRIP1):c.1884T>C (p.Phe628=) rs200491247 0.00001
NM_020366.4(RPGRIP1):c.1898A>G (p.His633Arg) rs774019346 0.00001
NM_020366.4(RPGRIP1):c.1899C>T (p.His633=) rs759142742 0.00001
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.1949C>T (p.Pro650Leu) rs769167245 0.00001
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln) rs768190736 0.00001
NM_020366.4(RPGRIP1):c.218+7dup rs1319812899 0.00001
NM_020366.4(RPGRIP1):c.2212A>G (p.Ile738Val) rs774600464 0.00001
NM_020366.4(RPGRIP1):c.2215+6T>C rs767555070 0.00001
NM_020366.4(RPGRIP1):c.2215+8C>T rs1163623603 0.00001
NM_020366.4(RPGRIP1):c.2235C>T (p.Phe745=) rs767808334 0.00001
NM_020366.4(RPGRIP1):c.2285T>C (p.Leu762Pro) rs199593721 0.00001
NM_020366.4(RPGRIP1):c.2286A>G (p.Leu762=) rs1276632598 0.00001
NM_020366.4(RPGRIP1):c.2294G>A (p.Cys765Tyr) rs1413996964 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_020366.4(RPGRIP1):c.2335G>C (p.Val779Leu) rs1050643789 0.00001
NM_020366.4(RPGRIP1):c.2336T>C (p.Val779Ala) rs1195674447 0.00001
NM_020366.4(RPGRIP1):c.2347C>T (p.Arg783Trp) rs765878033 0.00001
NM_020366.4(RPGRIP1):c.2361A>T (p.Glu787Asp) rs1427873310 0.00001
NM_020366.4(RPGRIP1):c.2367+20G>A rs374576752 0.00001
NM_020366.4(RPGRIP1):c.2389C>T (p.Pro797Ser) rs750432423 0.00001
NM_020366.4(RPGRIP1):c.240G>A (p.Arg80=) rs1881000292 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu) rs372647080 0.00001
NM_020366.4(RPGRIP1):c.2527A>G (p.Asn843Asp) rs762420632 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2557T>G (p.Phe853Val) rs755901634 0.00001
NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val) rs747355604 0.00001
NM_020366.4(RPGRIP1):c.2620G>A (p.Val874Ile) rs774012865 0.00001
NM_020366.4(RPGRIP1):c.267G>A (p.Arg89=) rs1025250925 0.00001
NM_020366.4(RPGRIP1):c.2693A>G (p.Lys898Arg) rs1330207465 0.00001
NM_020366.4(RPGRIP1):c.2700A>G (p.Glu900=) rs781608496 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.2784C>T (p.Pro928=) rs1056222442 0.00001
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs) rs1881002905 0.00001
NM_020366.4(RPGRIP1):c.2864C>T (p.Ser955Phe) rs1437116017 0.00001
NM_020366.4(RPGRIP1):c.2875A>G (p.Lys959Glu) rs758124463 0.00001
NM_020366.4(RPGRIP1):c.2877G>A (p.Lys959=) rs1405792437 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.2895+3A>G rs769634650 0.00001
NM_020366.4(RPGRIP1):c.2902A>G (p.Met968Val) rs552951112 0.00001
NM_020366.4(RPGRIP1):c.2907A>G (p.Ala969=) rs751139588 0.00001
NM_020366.4(RPGRIP1):c.2916G>T (p.Glu972Asp) rs1233085262 0.00001
NM_020366.4(RPGRIP1):c.2964T>A (p.His988Gln) rs1883351019 0.00001
NM_020366.4(RPGRIP1):c.2987A>G (p.Glu996Gly) rs1254110768 0.00001
NM_020366.4(RPGRIP1):c.3057G>A (p.Met1019Ile) rs374298935 0.00001
NM_020366.4(RPGRIP1):c.3124T>A (p.Phe1042Ile) rs988867957 0.00001
NM_020366.4(RPGRIP1):c.3137A>T (p.Asn1046Ile) rs1883600054 0.00001
NM_020366.4(RPGRIP1):c.3223C>G (p.Leu1075Val) rs550094754 0.00001
NM_020366.4(RPGRIP1):c.3227A>G (p.His1076Arg) rs1396404319 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_020366.4(RPGRIP1):c.3239-17A>C rs1777618184 0.00001
NM_020366.4(RPGRIP1):c.3259G>A (p.Gly1087Ser) rs756204198 0.00001
NM_020366.4(RPGRIP1):c.3288C>T (p.Thr1096=) rs771436916 0.00001
NM_020366.4(RPGRIP1):c.3364A>G (p.Ile1122Val) rs1363679912 0.00001
NM_020366.4(RPGRIP1):c.339C>A (p.Leu113=) rs758436075 0.00001
NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=) rs398124355 0.00001
NM_020366.4(RPGRIP1):c.344T>G (p.Met115Arg) rs752159774 0.00001
NM_020366.4(RPGRIP1):c.3450C>G (p.Asp1150Glu) rs527354795 0.00001
NM_020366.4(RPGRIP1):c.3462G>A (p.Ser1154=) rs772065227 0.00001
NM_020366.4(RPGRIP1):c.3503G>T (p.Gly1168Val) rs763866704 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.356C>T (p.Pro119Leu) rs770129842 0.00001
NM_020366.4(RPGRIP1):c.3587T>A (p.Met1196Lys) rs769554584 0.00001
NM_020366.4(RPGRIP1):c.3617+1G>T rs771116776 0.00001
NM_020366.4(RPGRIP1):c.3651T>G (p.Asp1217Glu) rs1316957086 0.00001
NM_020366.4(RPGRIP1):c.3738A>G (p.Gln1246=) rs751191642 0.00001
NM_020366.4(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889 0.00001
NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile) rs759191514 0.00001
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=) rs281865294 0.00001
NM_020366.4(RPGRIP1):c.3791A>G (p.Lys1264Arg) rs753788745 0.00001
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu) rs547876047 0.00001
NM_020366.4(RPGRIP1):c.416C>T (p.Ala139Val) rs1169371081 0.00001
NM_020366.4(RPGRIP1):c.493C>G (p.Pro165Ala) rs199840691 0.00001
NM_020366.4(RPGRIP1):c.498G>A (p.Arg166=) rs1002507485 0.00001
NM_020366.4(RPGRIP1):c.519C>A (p.Ala173=) rs754509080 0.00001
NM_020366.4(RPGRIP1):c.521C>T (p.Pro174Leu) rs780733881 0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=) rs574462207 0.00001
NM_020366.4(RPGRIP1):c.61C>T (p.Pro21Ser) rs1032222606 0.00001
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter) rs1233376985 0.00001
NM_020366.4(RPGRIP1):c.667A>G (p.Ser223Gly) rs1285531904 0.00001
NM_020366.4(RPGRIP1):c.680T>C (p.Met227Thr) rs371994477 0.00001
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=) rs770273789 0.00001
NM_020366.4(RPGRIP1):c.728A>C (p.Lys243Thr) rs766603726 0.00001
NM_020366.4(RPGRIP1):c.769T>C (p.Leu257=) rs537769664 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020366.4(RPGRIP1):c.80C>T (p.Ser27Leu) rs569126479 0.00001
NM_020366.4(RPGRIP1):c.85+20A>T rs761987893 0.00001
NM_020366.4(RPGRIP1):c.86-1G>A rs200968268 0.00001
NM_020366.4(RPGRIP1):c.860A>G (p.Asn287Ser) rs937927408 0.00001
NM_020366.4(RPGRIP1):c.867A>T (p.Ser289=) rs892708678 0.00001
NM_020366.4(RPGRIP1):c.868T>C (p.Leu290=) rs1825368121 0.00001
NM_020366.4(RPGRIP1):c.898del (p.Val300fs) rs1566674893 0.00001
NM_020366.4(RPGRIP1):c.906+14A>G rs1243025284 0.00001
NM_020366.4(RPGRIP1):c.926A>G (p.Gln309Arg) rs757291015 0.00001
NM_020366.4(RPGRIP1):c.931-2A>G rs374188857 0.00001
NM_020366.4(RPGRIP1):c.939A>T (p.Gly313=) rs917609289 0.00001
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val) rs1325466987 0.00001
NM_020366.4(RPGRIP1):c.957T>G (p.His319Gln) rs778477037 0.00001
NM_020366.4(RPGRIP1):c.965T>C (p.Leu322Pro) rs1214509629 0.00001
NC_000014.8:g.(?_21756136)_(21756240_?)del
NC_000014.8:g.(?_21756136)_(21780685_?)dup
NC_000014.8:g.(?_21762816)_(21762988_?)dup
NC_000014.8:g.(?_21762816)_(21795986_?)del
NC_000014.8:g.(?_21762977)_(21770303_?)del
NC_000014.8:g.(?_21766946)_(21770647_?)del
NC_000014.8:g.(?_21769105)_(21794352_?)dup
NC_000014.8:g.(?_21785835)_(21786029_?)del
NC_000014.8:g.(?_21785835)_(21788356_?)del
NC_000014.8:g.(?_21785835)_(21796806_?)del
NC_000014.8:g.(?_21792757)_(21819375_?)dup
NC_000014.8:g.(?_21793972)_(21794928_?)del
NC_000014.8:g.(?_21795762)_(21798566_?)del
NC_000014.8:g.(?_21795782)_(21795966_?)del
NC_000014.8:g.(?_21796563)_(21796806_?)del
NC_000014.8:g.(?_21798388)_(21798566_?)del
NC_000014.8:g.(?_21798388)_(21798566_?)dup
NC_000014.8:g.(?_21819243)_(21819375_?)del
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NM_020366.4(RPGRIP1):c.1011C>G (p.Ser337Arg) rs2139175426
NM_020366.4(RPGRIP1):c.1013A>G (p.Lys338Arg)
NM_020366.4(RPGRIP1):c.1077+3A>G
NM_020366.4(RPGRIP1):c.1078-16C>T
NM_020366.4(RPGRIP1):c.1078-5C>G
NM_020366.4(RPGRIP1):c.107C>A (p.Pro36Gln) rs189509077
NM_020366.4(RPGRIP1):c.1084G>A (p.Glu362Lys)
NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)
NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs) rs768719934
NM_020366.4(RPGRIP1):c.1092T>C (p.Val364=) rs2139176256
NM_020366.4(RPGRIP1):c.10C>A (p.Leu4Met) rs1462796890
NM_020366.4(RPGRIP1):c.1107A>G (p.Lys369=)
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1118T>C (p.Leu373Ser)
NM_020366.4(RPGRIP1):c.111C>A (p.Pro37=)
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) rs2139176356
NM_020366.4(RPGRIP1):c.1151+12A>G
NM_020366.4(RPGRIP1):c.1165A>T (p.Ser389Cys)
NM_020366.4(RPGRIP1):c.1197C>A (p.Asn399Lys)
NM_020366.4(RPGRIP1):c.1203C>T (p.Leu401=) rs2139188065
NM_020366.4(RPGRIP1):c.1208C>T (p.Ala403Val) rs779216995
NM_020366.4(RPGRIP1):c.1209G>A (p.Ala403=)
NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)
NM_020366.4(RPGRIP1):c.1226A>G (p.Gln409Arg)
NM_020366.4(RPGRIP1):c.1227A>G (p.Gln409=)
NM_020366.4(RPGRIP1):c.1239G>A (p.Leu413=)
NM_020366.4(RPGRIP1):c.1243del (p.Asp415fs)
NM_020366.4(RPGRIP1):c.1268A>G (p.Asp423Gly)
NM_020366.4(RPGRIP1):c.127C>G (p.Arg43Gly) rs751975588
NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp) rs751975588
NM_020366.4(RPGRIP1):c.1285C>G (p.Leu429Val) rs2139188464
NM_020366.4(RPGRIP1):c.1286T>G (p.Leu429Arg) rs1052124836
NM_020366.4(RPGRIP1):c.1290G>A (p.Glu430=) rs1881927011
NM_020366.4(RPGRIP1):c.1296C>T (p.Ser432=)
NM_020366.4(RPGRIP1):c.1299G>A (p.Arg433=)
NM_020366.4(RPGRIP1):c.12G>A (p.Leu4=)
NM_020366.4(RPGRIP1):c.1306+19A>G rs2139188641
NM_020366.4(RPGRIP1):c.1307-9T>G
NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)
NM_020366.4(RPGRIP1):c.1320T>G (p.Asp440Glu) rs1882224897
NM_020366.4(RPGRIP1):c.1326G>A (p.Lys442=) rs375450848
NM_020366.4(RPGRIP1):c.1335C>G (p.Val445=) rs2139199941
NM_020366.4(RPGRIP1):c.1352A>C (p.Lys451Thr) rs1882228306
NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs) rs763671264
NM_020366.4(RPGRIP1):c.136T>C (p.Leu46=)
NM_020366.4(RPGRIP1):c.1378C>A (p.Gln460Lys) rs1385302435
NM_020366.4(RPGRIP1):c.137T>C (p.Leu46Ser)
NM_020366.4(RPGRIP1):c.138GGA[1] (p.Glu47del)
NM_020366.4(RPGRIP1):c.1392A>T (p.Thr464=) rs954065821
NM_020366.4(RPGRIP1):c.140A>G (p.Glu47Gly) rs2139144675
NM_020366.4(RPGRIP1):c.1413G>A (p.Arg471=) rs1017455134
NM_020366.4(RPGRIP1):c.1416A>G (p.Gln472=) rs776264535
NM_020366.4(RPGRIP1):c.1418C>G (p.Ser473Cys) rs1882237224
NM_020366.4(RPGRIP1):c.141G>A (p.Glu47=)
NM_020366.4(RPGRIP1):c.1430C>A (p.Thr477Asn) rs2139200427
NM_020366.4(RPGRIP1):c.1434C>T (p.His478=)
NM_020366.4(RPGRIP1):c.1447C>A (p.Gln483Lys) rs368781265
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter) rs368781265
NM_020366.4(RPGRIP1):c.1451A>G (p.Glu484Gly) rs2139200567
NM_020366.4(RPGRIP1):c.1456A>G (p.Thr486Ala)
NM_020366.4(RPGRIP1):c.1457C>T (p.Thr486Ile) rs1882245032
NM_020366.4(RPGRIP1):c.1464C>G (p.Ile488Met)
NM_020366.4(RPGRIP1):c.1467+11C>G
NM_020366.4(RPGRIP1):c.1468-15C>A
NM_020366.4(RPGRIP1):c.1468-15C>T rs557262153
NM_020366.4(RPGRIP1):c.1468-16G>A
NM_020366.4(RPGRIP1):c.1472G>C (p.Ser491Thr)
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1506C>G (p.Ser502=) rs777877901
NM_020366.4(RPGRIP1):c.1537G>A (p.Ala513Thr) rs763392584
NM_020366.4(RPGRIP1):c.1537G>T (p.Ala513Ser) rs763392584
NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln) rs374171080
NM_020366.4(RPGRIP1):c.1563G>C (p.Lys521Asn)
NM_020366.4(RPGRIP1):c.1569G>A (p.Arg523=) rs775613696
NM_020366.4(RPGRIP1):c.1573A>G (p.Met525Val)
NM_020366.4(RPGRIP1):c.1578T>A (p.Leu526=) rs371653245
NM_020366.4(RPGRIP1):c.1590C>T (p.Arg530=)
NM_020366.4(RPGRIP1):c.1592A>G (p.Lys531Arg) rs2139208888
NM_020366.4(RPGRIP1):c.1600G>C (p.Val534Leu)
NM_020366.4(RPGRIP1):c.1612G>A (p.Glu538Lys)
NM_020366.4(RPGRIP1):c.1615_1616delinsAG (p.Glu539Arg) rs2139211228
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1631T>A (p.Met544Lys) rs748892211
NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)
NM_020366.4(RPGRIP1):c.1647T>C (p.Asn549=)
NM_020366.4(RPGRIP1):c.1653T>C (p.Asn551=)
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) rs776963292
NM_020366.4(RPGRIP1):c.1701C>G (p.Leu567=)
NM_020366.4(RPGRIP1):c.1711C>G (p.Arg571Gly)
NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)
NM_020366.4(RPGRIP1):c.172A>G (p.Met58Val)
NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)
NM_020366.4(RPGRIP1):c.173T>C (p.Met58Thr) rs1413728875
NM_020366.4(RPGRIP1):c.1741A>G (p.Ser581Gly)
NM_020366.4(RPGRIP1):c.1746T>C (p.His582=)
NM_020366.4(RPGRIP1):c.1757C>G (p.Thr586Arg) rs1387707646
NM_020366.4(RPGRIP1):c.1763-13C>A
NM_020366.4(RPGRIP1):c.1763-2A>G
NM_020366.4(RPGRIP1):c.1763-8C>G rs1408302760
NM_020366.4(RPGRIP1):c.1785T>C (p.Tyr595=)
NM_020366.4(RPGRIP1):c.1800G>A (p.Leu600=)
NM_020366.4(RPGRIP1):c.1802C>G (p.Ser601Trp) rs3748360
NM_020366.4(RPGRIP1):c.1802C>T (p.Ser601Leu) rs3748360
NM_020366.4(RPGRIP1):c.1802_1804del (p.Ser601del) rs781272475
NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)
NM_020366.4(RPGRIP1):c.1820T>A (p.Leu607Gln) rs576270075
NM_020366.4(RPGRIP1):c.182A>G (p.Lys61Arg) rs1192734148
NM_020366.4(RPGRIP1):c.184G>A (p.Glu62Lys) rs976713441
NM_020366.4(RPGRIP1):c.1858C>T (p.Leu620=)
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) rs772090790
NM_020366.4(RPGRIP1):c.1870G>C (p.Gly624Arg) rs2139227241
NM_020366.4(RPGRIP1):c.1875G>T (p.Glu625Asp)
NM_020366.4(RPGRIP1):c.1876A>T (p.Asn626Tyr) rs1882869988
NM_020366.4(RPGRIP1):c.1877A>G (p.Asn626Ser) rs1247485541
NM_020366.4(RPGRIP1):c.1888C>T (p.Leu630=)
NM_020366.4(RPGRIP1):c.1901A>G (p.Gln634Arg) rs1882874181
NM_020366.4(RPGRIP1):c.1903G>A (p.Ala635Thr)
NM_020366.4(RPGRIP1):c.1904C>A (p.Ala635Asp)
NM_020366.4(RPGRIP1):c.1909C>T (p.Leu637=)
NM_020366.4(RPGRIP1):c.1919C>T (p.Ala640Val)
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) rs2139227650
NM_020366.4(RPGRIP1):c.1935T>A (p.Ala645=)
NM_020366.4(RPGRIP1):c.1945C>A (p.Gln649Lys) rs747575530
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg) rs769167245
NM_020366.4(RPGRIP1):c.1954A>G (p.Thr652Ala)
NM_020366.4(RPGRIP1):c.1970C>T (p.Ser657Phe)
NM_020366.4(RPGRIP1):c.1976A>C (p.Tyr659Ser) rs1278572461
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) rs1225223445
NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.4(RPGRIP1):c.2019G>A (p.Gln673=) rs2139228327
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs) rs2139228423
NM_020366.4(RPGRIP1):c.2036C>T (p.Thr679Ile) rs2139228509
NM_020366.4(RPGRIP1):c.203A>G (p.Gln68Arg) rs1880693286
NM_020366.4(RPGRIP1):c.2047G>A (p.Val683Met)
NM_020366.4(RPGRIP1):c.2048T>C (p.Val683Ala)
NM_020366.4(RPGRIP1):c.2054A>G (p.Glu685Gly)
NM_020366.4(RPGRIP1):c.2059G>C (p.Asp687His) rs780193224
NM_020366.4(RPGRIP1):c.2064G>A (p.Ser688=)
NM_020366.4(RPGRIP1):c.2076C>T (p.His692=)
NM_020366.4(RPGRIP1):c.2084A>G (p.Gln695Arg)
NM_020366.4(RPGRIP1):c.2087A>C (p.Glu696Ala)
NM_020366.4(RPGRIP1):c.2098C>A (p.Arg700=) rs775239691
NM_020366.4(RPGRIP1):c.2098C>G (p.Arg700Gly)
NM_020366.4(RPGRIP1):c.2098C>T (p.Arg700Trp) rs775239691
NM_020366.4(RPGRIP1):c.2100G>C (p.Arg700=) rs369515171
NM_020366.4(RPGRIP1):c.2159G>A (p.Cys720Tyr) rs1882916452
NM_020366.4(RPGRIP1):c.2172G>A (p.Val724=)
NM_020366.4(RPGRIP1):c.218+9A>G
NM_020366.4(RPGRIP1):c.219-16C>T rs1880998821
NM_020366.4(RPGRIP1):c.219-17G>T rs1399266958
NM_020366.4(RPGRIP1):c.219-2A>G rs1880999471
NM_020366.4(RPGRIP1):c.2202G>A (p.Leu734=)
NM_020366.4(RPGRIP1):c.2213T>C (p.Ile738Thr)
NM_020366.4(RPGRIP1):c.2215+10G>A
NM_020366.4(RPGRIP1):c.2216-13T>G rs1882942396
NM_020366.4(RPGRIP1):c.2216-15C>G
NM_020366.4(RPGRIP1):c.2216-1G>A rs970696880
NM_020366.4(RPGRIP1):c.2224G>A (p.Gly742Arg)
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.2260C>T (p.Leu754=) rs2139231465
NM_020366.4(RPGRIP1):c.2263C>T (p.Arg755Cys)
NM_020366.4(RPGRIP1):c.2264G>A (p.Arg755His)
NM_020366.4(RPGRIP1):c.2271C>G (p.Pro757=)
NM_020366.4(RPGRIP1):c.2280C>G (p.Pro760=) rs2139231577
NM_020366.4(RPGRIP1):c.2289G>A (p.Gln763=) rs2139231696
NM_020366.4(RPGRIP1):c.2300A>C (p.Lys767Thr) rs1594214205
NM_020366.4(RPGRIP1):c.2307G>A (p.Lys769=)
NM_020366.4(RPGRIP1):c.2308A>C (p.Lys770Gln) rs745694912
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs) rs1412625438
NM_020366.4(RPGRIP1):c.2313C>T (p.Ala771=)
NM_020366.4(RPGRIP1):c.2317G>T (p.Val773Phe)
NM_020366.4(RPGRIP1):c.2330C>G (p.Thr777Ser) rs1483742101
NM_020366.4(RPGRIP1):c.2331C>A (p.Thr777=)
NM_020366.4(RPGRIP1):c.2332G>A (p.Asp778Asn)
NM_020366.4(RPGRIP1):c.2348G>A (p.Arg783Gln)
NM_020366.4(RPGRIP1):c.2361A>G (p.Glu787=)
NM_020366.4(RPGRIP1):c.2362G>A (p.Glu788Lys) rs2139232422
NM_020366.4(RPGRIP1):c.2367+16T>C
NM_020366.4(RPGRIP1):c.2367+1G>A rs1882968821
NM_020366.4(RPGRIP1):c.2367G>A (p.Glu789=)
NM_020366.4(RPGRIP1):c.2368-15C>G rs993638684
NM_020366.4(RPGRIP1):c.2388A>G (p.Glu796=) rs764645510
NM_020366.4(RPGRIP1):c.2388A>T (p.Glu796Asp)
NM_020366.4(RPGRIP1):c.238C>G (p.Arg80Gly)
NM_020366.4(RPGRIP1):c.2392C>G (p.Gln798Glu) rs1883030065
NM_020366.4(RPGRIP1):c.2398G>C (p.Glu800Gln)
NM_020366.4(RPGRIP1):c.2410G>A (p.Glu804Lys)
NM_020366.4(RPGRIP1):c.2417C>G (p.Thr806Ser)
NM_020366.4(RPGRIP1):c.2425T>C (p.Cys809Arg)
NM_020366.4(RPGRIP1):c.2434C>T (p.Arg812Trp)
NM_020366.4(RPGRIP1):c.2440C>A (p.Arg814=) rs759940113
NM_020366.4(RPGRIP1):c.2441G>A (p.Arg814Gln)
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) rs1739469293
NM_020366.4(RPGRIP1):c.2446C>A (p.Leu816Met) rs761438226
NM_020366.4(RPGRIP1):c.2448G>C (p.Leu816=) rs967192107
NM_020366.4(RPGRIP1):c.245C>T (p.Thr82Ile)
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2499C>T (p.Asp833=)
NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)
NM_020366.4(RPGRIP1):c.2504A>G (p.Asp835Gly) rs749361825
NM_020366.4(RPGRIP1):c.2507C>A (p.Thr836Asn) rs771018578
NM_020366.4(RPGRIP1):c.2514C>T (p.Ile838=) rs775845491
NM_020366.4(RPGRIP1):c.2515A>G (p.Ile839Val) rs1231166099
NM_020366.4(RPGRIP1):c.2523C>T (p.Ala841=) rs1483414787
NM_020366.4(RPGRIP1):c.2551G>A (p.Ala851Thr)
NM_020366.4(RPGRIP1):c.2573C>T (p.Thr858Ile)
NM_020366.4(RPGRIP1):c.2591A>T (p.Tyr864Phe)
NM_020366.4(RPGRIP1):c.2594T>C (p.Leu865Pro) rs1883066106
NM_020366.4(RPGRIP1):c.2611T>C (p.Ser871Pro)
NM_020366.4(RPGRIP1):c.2617C>G (p.His873Asp)
NM_020366.4(RPGRIP1):c.2652G>A (p.Ser884=)
NM_020366.4(RPGRIP1):c.2652G>C (p.Ser884=) rs754062559
NM_020366.4(RPGRIP1):c.2658T>C (p.Leu886=) rs2139237303
NM_020366.4(RPGRIP1):c.265C>A (p.Arg89=)
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter) rs780587095
NM_020366.4(RPGRIP1):c.266G>A (p.Arg89Gln)
NM_020366.4(RPGRIP1):c.2684C>A (p.Pro895His) rs2139237508
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2692A>G (p.Lys898Glu) rs1182119707
NM_020366.4(RPGRIP1):c.2706C>T (p.Ile902=)
NM_020366.4(RPGRIP1):c.270C>G (p.Val90=)
NM_020366.4(RPGRIP1):c.2710+10C>T
NM_020366.4(RPGRIP1):c.2710+7G>C
NM_020366.4(RPGRIP1):c.2710G>A (p.Gly904Ser) rs918924266
NM_020366.4(RPGRIP1):c.2711-3C>T
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2721C>A (p.Asn907Lys)
NM_020366.4(RPGRIP1):c.2738A>G (p.Glu913Gly)
NM_020366.4(RPGRIP1):c.2748C>T (p.Asn916=)
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2776A>G (p.Lys926Glu) rs1883253921
NM_020366.4(RPGRIP1):c.277G>C (p.Glu93Gln)
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs) rs1883254940
NM_020366.4(RPGRIP1):c.2794C>A (p.Pro932Thr)
NM_020366.4(RPGRIP1):c.2801G>C (p.Ser934Thr)
NM_020366.4(RPGRIP1):c.2818G>C (p.Ala940Pro) rs376805437
NM_020366.4(RPGRIP1):c.2821C>G (p.Gln941Glu) rs2139246200
NM_020366.4(RPGRIP1):c.2827A>G (p.Lys943Glu) rs2139246249
NM_020366.4(RPGRIP1):c.2829G>A (p.Lys943=)
NM_020366.4(RPGRIP1):c.2832G>A (p.Gly944=) rs1883263391
NM_020366.4(RPGRIP1):c.2865T>G (p.Ser955=)
NM_020366.4(RPGRIP1):c.2874A>G (p.Glu958=) rs1439287091
NM_020366.4(RPGRIP1):c.2878G>A (p.Ala960Thr) rs35810926
NM_020366.4(RPGRIP1):c.2895G>C (p.Gln965His)
NM_020366.4(RPGRIP1):c.2910_2911del (p.Ser970_Pro971insTer)
NM_020366.4(RPGRIP1):c.2917G>A (p.Val973Ile)
NM_020366.4(RPGRIP1):c.2923A>G (p.Ile975Val) rs2139250653
NM_020366.4(RPGRIP1):c.2930C>T (p.Ala977Val) rs1883345867
NM_020366.4(RPGRIP1):c.2932G>C (p.Gly978Arg)
NM_020366.4(RPGRIP1):c.2933G>A (p.Gly978Asp)
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) rs1371805993
NM_020366.4(RPGRIP1):c.293C>T (p.Ser98Leu) rs1337129272
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.2948A>T (p.Lys983Met)
NM_020366.4(RPGRIP1):c.2960C>T (p.Pro987Leu) rs2139250992
NM_020366.4(RPGRIP1):c.2963A>G (p.His988Arg)
NM_020366.4(RPGRIP1):c.2963A>T (p.His988Leu)
NM_020366.4(RPGRIP1):c.2965G>T (p.Gly989Trp) rs774678526
NM_020366.4(RPGRIP1):c.2966G>T (p.Gly989Val) rs1349740244
NM_020366.4(RPGRIP1):c.2969G>A (p.Gly990Glu)
NM_020366.4(RPGRIP1):c.2974_2984del (p.Arg992fs)
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs) rs1594224781
NM_020366.4(RPGRIP1):c.2993A>G (p.Gln998Arg) rs1883354997
NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu) rs756665749
NM_020366.4(RPGRIP1):c.3021T>C (p.His1007=) rs1023525604
NM_020366.4(RPGRIP1):c.3029G>T (p.Arg1010Ile) rs969637624
NM_020366.4(RPGRIP1):c.3039T>C (p.Val1013=) rs765515179
NM_020366.4(RPGRIP1):c.3044G>A (p.Gly1015Glu)
NM_020366.4(RPGRIP1):c.3060G>A (p.Glu1020=) rs997037284
NM_020366.4(RPGRIP1):c.3075C>T (p.Asn1025=)
NM_020366.4(RPGRIP1):c.3085G>A (p.Gly1029Arg)
NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)
NM_020366.4(RPGRIP1):c.3099+2dup rs1883370936
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020366.4(RPGRIP1):c.3100-3A>G rs2139263237
NM_020366.4(RPGRIP1):c.3107A>C (p.Asn1036Thr) rs2139263302
NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter) rs2139156519
NM_020366.4(RPGRIP1):c.3140_3141delinsTT (p.Ser1047Ile) rs1883601117
NM_020366.4(RPGRIP1):c.3151G>C (p.Asp1051His) rs1883602777
NM_020366.4(RPGRIP1):c.3152A>C (p.Asp1051Ala) rs775193329
NM_020366.4(RPGRIP1):c.3168G>A (p.Gln1056=)
NM_020366.4(RPGRIP1):c.3180G>A (p.Glu1060=)
NM_020366.4(RPGRIP1):c.320C>A (p.Ala107Glu)
NM_020366.4(RPGRIP1):c.320_322del (p.Ala107del) rs1424476051
NM_020366.4(RPGRIP1):c.322G>A (p.Gly108Arg)
NM_020366.4(RPGRIP1):c.3230C>T (p.Pro1077Leu) rs2139264096
NM_020366.4(RPGRIP1):c.3238+17T>A
NM_020366.4(RPGRIP1):c.3238+5T>A rs1375504755
NM_020366.4(RPGRIP1):c.3238+5T>C
NM_020366.4(RPGRIP1):c.3239-16A>G
NM_020366.4(RPGRIP1):c.3240C>T (p.Asp1080=)
NM_020366.4(RPGRIP1):c.3248C>G (p.Ser1083Cys) rs751421999
NM_020366.4(RPGRIP1):c.3248C>T (p.Ser1083Phe) rs751421999
NM_020366.4(RPGRIP1):c.3251C>T (p.Ser1084Phe) rs576011830
NM_020366.4(RPGRIP1):c.3257A>C (p.Gln1086Pro) rs1210425656
NM_020366.4(RPGRIP1):c.3271A>C (p.Ser1091Arg) rs749295693
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs) rs2139288271
NM_020366.4(RPGRIP1):c.3293G>A (p.Ser1098Asn) rs2139288372
NM_020366.4(RPGRIP1):c.3308T>C (p.Val1103Ala)
NM_020366.4(RPGRIP1):c.3312A>G (p.Pro1104=)
NM_020366.4(RPGRIP1):c.3317T>C (p.Met1106Thr) rs769264626
NM_020366.4(RPGRIP1):c.3339+9A>G
NM_020366.4(RPGRIP1):c.3340-19T>C
NM_020366.4(RPGRIP1):c.3340-3C>G
NM_020366.4(RPGRIP1):c.3353T>C (p.Met1118Thr) rs1194195334
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu) rs137853911
NM_020366.4(RPGRIP1):c.335G>A (p.Arg112His) rs1566671532
NM_020366.4(RPGRIP1):c.3370T>A (p.Ser1124Thr)
NM_020366.4(RPGRIP1):c.3370T>C (p.Ser1124Pro) rs2139337000
NM_020366.4(RPGRIP1):c.3373C>T (p.Leu1125=)
NM_020366.4(RPGRIP1):c.340T>C (p.Ser114Pro) rs1192070874
NM_020366.4(RPGRIP1):c.3420A>G (p.Lys1140=)
NM_020366.4(RPGRIP1):c.3426G>A (p.Val1142=) rs1463280224
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.4(RPGRIP1):c.3448G>A (p.Asp1150Asn) rs144704092
NM_020366.4(RPGRIP1):c.3448G>C (p.Asp1150His)
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) rs144704092
NM_020366.4(RPGRIP1):c.3450C>T (p.Asp1150=)
NM_020366.4(RPGRIP1):c.3454C>A (p.Pro1152Thr)
NM_020366.4(RPGRIP1):c.3454C>T (p.Pro1152Ser) rs1388726376
NM_020366.4(RPGRIP1):c.3461C>G (p.Ser1154Trp) rs188312873
NM_020366.4(RPGRIP1):c.3461C>T (p.Ser1154Leu) rs188312873
NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
NM_020366.4(RPGRIP1):c.3484C>T (p.Leu1162=)
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs) rs1885194108
NM_020366.4(RPGRIP1):c.3501A>C (p.Ala1167=) rs760570560
NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)
NM_020366.4(RPGRIP1):c.3513C>T (p.Ile1171=) rs1448324598
NM_020366.4(RPGRIP1):c.3516C>T (p.His1172=)
NM_020366.4(RPGRIP1):c.3521A>C (p.His1174Pro) rs2139338042
NM_020366.4(RPGRIP1):c.3522C>G (p.His1174Gln)
NM_020366.4(RPGRIP1):c.352C>A (p.Arg118Ser)
NM_020366.4(RPGRIP1):c.3532+8_3532+10del rs2139338142
NM_020366.4(RPGRIP1):c.3533-18C>T rs2139349638
NM_020366.4(RPGRIP1):c.3533-2A>G
NM_020366.4(RPGRIP1):c.3539A>G (p.Asp1180Gly) rs2139349759
NM_020366.4(RPGRIP1):c.3545A>T (p.Asp1182Val)
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys) rs766353935
NM_020366.4(RPGRIP1):c.3553G>C (p.Glu1185Gln) rs766353935
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser) rs756503753
NM_020366.4(RPGRIP1):c.3571C>A (p.Arg1191=)
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_020366.4(RPGRIP1):c.3602A>G (p.Asp1201Gly) rs773540240
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) rs2139350315
NM_020366.4(RPGRIP1):c.3615A>T (p.Gly1205=) rs2139350334
NM_020366.4(RPGRIP1):c.3617A>T (p.His1206Leu)
NM_020366.4(RPGRIP1):c.3618-18A>C
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.3618-4T>G
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs) rs1885757549
NM_020366.4(RPGRIP1):c.3645T>C (p.Pro1215=) rs1333427417
NM_020366.4(RPGRIP1):c.3646C>T (p.Leu1216=) rs2139365900
NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn) rs886044548
NM_020366.4(RPGRIP1):c.3652G>A (p.Glu1218Lys)
NM_020366.4(RPGRIP1):c.3660G>T (p.Lys1220Asn)
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs) rs1594280914
NM_020366.4(RPGRIP1):c.3671AAG[1] (p.Glu1225del) rs1885763072
NM_020366.4(RPGRIP1):c.3683A>G (p.Tyr1228Cys)
NM_020366.4(RPGRIP1):c.3687A>G (p.Ala1229=) rs745981313
NM_020366.4(RPGRIP1):c.3689A>G (p.Tyr1230Cys)
NM_020366.4(RPGRIP1):c.3714G>A (p.Glu1238=)
NM_020366.4(RPGRIP1):c.3726dup (p.Ile1243fs)
NM_020366.4(RPGRIP1):c.3733G>A (p.Glu1245Lys)
NM_020366.4(RPGRIP1):c.3748+11T>A
NM_020366.4(RPGRIP1):c.3748+16T>C rs2139366554
NM_020366.4(RPGRIP1):c.3748+17T>C
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_020366.4(RPGRIP1):c.3749-12dup
NM_020366.4(RPGRIP1):c.3749-14C>T rs2139386820
NM_020366.4(RPGRIP1):c.3749-6C>T rs373373799
NM_020366.4(RPGRIP1):c.3749-8C>T
NM_020366.4(RPGRIP1):c.3758C>G (p.Pro1253Arg) rs1168922642
NM_020366.4(RPGRIP1):c.3768G>A (p.Leu1256=)
NM_020366.4(RPGRIP1):c.3778A>G (p.Ile1260Val)
NM_020366.4(RPGRIP1):c.3779T>A (p.Ile1260Lys) rs752222755
NM_020366.4(RPGRIP1):c.3786G>T (p.Arg1262Ser) rs1479887241
NM_020366.4(RPGRIP1):c.380A>G (p.His127Arg) rs2139156675
NM_020366.4(RPGRIP1):c.3823G>A (p.Ala1275Thr)
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.3842C>T (p.Thr1281Ile) rs1385915494
NM_020366.4(RPGRIP1):c.3843T>C (p.Thr1281=)
NM_020366.4(RPGRIP1):c.3850T>C (p.Leu1284=) rs2139387827
NM_020366.4(RPGRIP1):c.386A>G (p.His129Arg)
NM_020366.4(RPGRIP1):c.394G>T (p.Gly132Cys) rs2139156699
NM_020366.4(RPGRIP1):c.403A>G (p.Ser135Gly)
NM_020366.4(RPGRIP1):c.405C>T (p.Ser135=)
NM_020366.4(RPGRIP1):c.415G>A (p.Ala139Thr)
NM_020366.4(RPGRIP1):c.415G>C (p.Ala139Pro)
NM_020366.4(RPGRIP1):c.417C>G (p.Ala139=) rs1405988307
NM_020366.4(RPGRIP1):c.420G>A (p.Gln140=) rs2139156763
NM_020366.4(RPGRIP1):c.433G>C (p.Val145Leu) rs1881012139
NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)
NM_020366.4(RPGRIP1):c.447G>A (p.Gln149=)
NM_020366.4(RPGRIP1):c.458C>G (p.Ala153Gly) rs1881013380
NM_020366.4(RPGRIP1):c.459C>A (p.Ala153=)
NM_020366.4(RPGRIP1):c.459C>T (p.Ala153=) rs756459696
NM_020366.4(RPGRIP1):c.474G>A (p.Pro158=)
NM_020366.4(RPGRIP1):c.490+18A>G rs1881016656
NM_020366.4(RPGRIP1):c.490+20C>T
NM_020366.4(RPGRIP1):c.490+23dup
NM_020366.4(RPGRIP1):c.490+3G>A rs2139156922
NM_020366.4(RPGRIP1):c.490+6A>T
NM_020366.4(RPGRIP1):c.491-10A>G
NM_020366.4(RPGRIP1):c.491-3del
NM_020366.4(RPGRIP1):c.518C>A (p.Ala173Asp) rs1305296500
NM_020366.4(RPGRIP1):c.521del (p.Pro174fs) rs1881077003
NM_020366.4(RPGRIP1):c.527C>T (p.Ser176Leu) rs1011857075
NM_020366.4(RPGRIP1):c.529T>C (p.Phe177Leu) rs1881077815
NM_020366.4(RPGRIP1):c.54T>C (p.Asp18=)
NM_020366.4(RPGRIP1):c.595G>T (p.Gly199Cys) rs777149627
NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)
NM_020366.4(RPGRIP1):c.620G>A (p.Ser207Asn) rs763667727
NM_020366.4(RPGRIP1):c.620G>T (p.Ser207Ile) rs763667727
NM_020366.4(RPGRIP1):c.624T>C (p.Ser208=)
NM_020366.4(RPGRIP1):c.636G>A (p.Met212Ile) rs1881122797
NM_020366.4(RPGRIP1):c.643C>T (p.Pro215Ser)
NM_020366.4(RPGRIP1):c.645C>T (p.Pro215=)
NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)
NM_020366.4(RPGRIP1):c.668G>A (p.Ser223Asn) rs2139160510
NM_020366.4(RPGRIP1):c.668G>C (p.Ser223Thr) rs2139160510
NM_020366.4(RPGRIP1):c.671C>T (p.Ala224Val)
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.678C>T (p.Ile226=) rs368948798
NM_020366.4(RPGRIP1):c.687C>A (p.Ser229Arg)
NM_020366.4(RPGRIP1):c.711del (p.Lys239fs) rs2139160608
NM_020366.4(RPGRIP1):c.732G>A (p.Met244Ile) rs1881127716
NM_020366.4(RPGRIP1):c.744T>C (p.Asp248=)
NM_020366.4(RPGRIP1):c.75A>G (p.Pro25=)
NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) rs2139160679
NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=) rs398124356
NM_020366.4(RPGRIP1):c.792A>G (p.Ala264=) rs1008051417
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer) rs2139168888
NM_020366.4(RPGRIP1):c.819G>A (p.Lys273=) rs2139168912
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.4(RPGRIP1):c.833del (p.Arg278fs)
NM_020366.4(RPGRIP1):c.837T>C (p.Leu279=) rs751301091
NM_020366.4(RPGRIP1):c.85+11C>T
NM_020366.4(RPGRIP1):c.85+12G>T
NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)
NM_020366.4(RPGRIP1):c.85G>A (p.Gly29Ser) rs763401090
NM_020366.4(RPGRIP1):c.870G>T (p.Leu290Phe) rs1459207230
NM_020366.4(RPGRIP1):c.874A>G (p.Met292Val) rs1881380174
NM_020366.4(RPGRIP1):c.895G>A (p.Glu299Lys) rs550626567
NM_020366.4(RPGRIP1):c.8A>G (p.His3Arg) rs2139132081
NM_020366.4(RPGRIP1):c.906+15_906+17del rs543597442
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213
NM_020366.4(RPGRIP1):c.907-7del rs1881499414
NM_020366.4(RPGRIP1):c.924C>T (p.Leu308=)
NM_020366.4(RPGRIP1):c.925C>G (p.Gln309Glu)
NM_020366.4(RPGRIP1):c.930+15T>C rs2139173387
NM_020366.4(RPGRIP1):c.930+4C>T
NM_020366.4(RPGRIP1):c.931-18A>C
NM_020366.4(RPGRIP1):c.931-2_935delinsT rs2139175288
NM_020366.4(RPGRIP1):c.931-3C>G
NM_020366.4(RPGRIP1):c.931-4C>T rs1023673456
NM_020366.4(RPGRIP1):c.933T>A (p.Asn311Lys)
NM_020366.4(RPGRIP1):c.950C>T (p.Ala317Val) rs2139175328
NM_020366.4(RPGRIP1):c.956A>G (p.His319Arg) rs756920414
NM_020366.4(RPGRIP1):c.964CTC[1] (p.Leu323del)
NM_020366.4(RPGRIP1):c.967C>T (p.Leu323Phe)
NM_020366.4(RPGRIP1):c.985C>G (p.Leu329Val) rs776485302
NM_020366.4(RPGRIP1):c.99A>G (p.Lys33=)

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