ClinVar Miner

List of variants in gene RPGRIP1L reported as likely benign for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 777
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=) rs190706759 0.00077
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg) rs528501990 0.00070
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) rs919333754 0.00046
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) rs143515432 0.00038
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 0.00032
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=) rs138048667 0.00029
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117 0.00025
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015272.5(RPGRIP1L):c.3221-19C>T rs372929131 0.00017
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=) rs373750629 0.00016
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015272.5(RPGRIP1L):c.2874+8T>C rs371853408 0.00013
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=) rs148808566 0.00012
NM_015272.5(RPGRIP1L):c.1029+10C>A rs542635220 0.00011
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=) rs774172381 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_015272.5(RPGRIP1L):c.2898A>G (p.Gln966=) rs1349302634 0.00010
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly) rs547718820 0.00008
NM_015272.5(RPGRIP1L):c.1071T>A (p.Leu357=) rs549925964 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542 0.00006
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.883-7C>A rs372349467 0.00005
NM_015272.5(RPGRIP1L):c.1029+12A>G rs374781718 0.00004
NM_015272.5(RPGRIP1L):c.1029+19T>C rs370612492 0.00004
NM_015272.5(RPGRIP1L):c.1104-13G>A rs775179294 0.00004
NM_015272.5(RPGRIP1L):c.1244-18G>A rs923409583 0.00004
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=) rs376335724 0.00004
NM_015272.5(RPGRIP1L):c.1375T>C (p.Leu459=) rs766752672 0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00004
NM_015272.5(RPGRIP1L):c.1699+11T>C rs189805541 0.00004
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=) rs762755851 0.00004
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) rs145807002 0.00004
NM_015272.5(RPGRIP1L):c.3061-18G>A rs1231406468 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=) rs773361667 0.00004
NM_015272.5(RPGRIP1L):c.1103+7C>T rs761579460 0.00003
NM_015272.5(RPGRIP1L):c.1104-14C>T rs763897513 0.00003
NM_015272.5(RPGRIP1L):c.1351-7A>G rs559918716 0.00003
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=) rs540930741 0.00003
NM_015272.5(RPGRIP1L):c.2262G>A (p.Gly754=) rs775616241 0.00003
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=) rs758547965 0.00003
NM_015272.5(RPGRIP1L):c.2403C>T (p.His801=) rs1390109484 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3433-8T>G rs757913656 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.529+17G>A rs754295905 0.00003
NM_015272.5(RPGRIP1L):c.530-7T>C rs780569188 0.00003
NM_015272.5(RPGRIP1L):c.776+13A>C rs772348382 0.00003
NM_015272.5(RPGRIP1L):c.840T>C (p.Asn280=) rs781135802 0.00003
NM_015272.5(RPGRIP1L):c.1335A>T (p.Ile445=) rs778962353 0.00002
NM_015272.5(RPGRIP1L):c.1392A>G (p.Leu464=) rs773395675 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=) rs774731949 0.00002
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=) rs778885314 0.00002
NM_015272.5(RPGRIP1L):c.231-13A>G rs1030566201 0.00002
NM_015272.5(RPGRIP1L):c.231-15T>G rs762320051 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=) rs758167588 0.00002
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=) rs192512050 0.00002
NM_015272.5(RPGRIP1L):c.2850A>G (p.Ala950=) rs752095514 0.00002
NM_015272.5(RPGRIP1L):c.2875-15G>T rs749908163 0.00002
NM_015272.5(RPGRIP1L):c.2877A>G (p.Ala959=) rs753020103 0.00002
NM_015272.5(RPGRIP1L):c.2958+9T>A rs920679699 0.00002
NM_015272.5(RPGRIP1L):c.3141A>C (p.Leu1047=) rs1313737236 0.00002
NM_015272.5(RPGRIP1L):c.3294+13A>G rs756969381 0.00002
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=) rs750716320 0.00002
NM_015272.5(RPGRIP1L):c.529+16C>T rs765320880 0.00002
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=) rs1404574894 0.00002
NM_015272.5(RPGRIP1L):c.882+8G>A rs773501615 0.00002
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1030-8C>T rs907172288 0.00001
NM_015272.5(RPGRIP1L):c.1030-9T>C rs779543814 0.00001
NM_015272.5(RPGRIP1L):c.1092A>G (p.Lys364=) rs766514324 0.00001
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=) rs201763037 0.00001
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=) rs779375492 0.00001
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=) rs536376284 0.00001
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=) rs759115653 0.00001
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=) rs1158246946 0.00001
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=) rs1033613104 0.00001
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=) rs754700219 0.00001
NM_015272.5(RPGRIP1L):c.1402-13T>G rs940616503 0.00001
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=) rs748560707 0.00001
NM_015272.5(RPGRIP1L):c.1581+10T>C rs775724713 0.00001
NM_015272.5(RPGRIP1L):c.1582-7T>G rs887053497 0.00001
NM_015272.5(RPGRIP1L):c.1700-7C>T rs1211017142 0.00001
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=) rs767506927 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=) rs765009772 0.00001
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=) rs138097384 0.00001
NM_015272.5(RPGRIP1L):c.1950C>T (p.Gly650=) rs371258046 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2121C>T (p.Ser707=) rs771201854 0.00001
NM_015272.5(RPGRIP1L):c.2153-6T>C rs371576599 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=) rs1013531093 0.00001
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=) rs1966519480 0.00001
NM_015272.5(RPGRIP1L):c.2364C>T (p.Asn788=) rs746197640 0.00001
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=) rs368894452 0.00001
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=) rs794727193 0.00001
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=) rs770299101 0.00001
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=) rs747445819 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=) rs1357658306 0.00001
NM_015272.5(RPGRIP1L):c.2583G>T (p.Leu861=) rs566547156 0.00001
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=) rs771569223 0.00001
NM_015272.5(RPGRIP1L):c.2613C>A (p.Thr871=) rs748285506 0.00001
NM_015272.5(RPGRIP1L):c.2640C>T (p.Val880=) rs767271797 0.00001
NM_015272.5(RPGRIP1L):c.2649T>C (p.Pro883=) rs1417235196 0.00001
NM_015272.5(RPGRIP1L):c.2684-7T>C rs745815763 0.00001
NM_015272.5(RPGRIP1L):c.2694G>A (p.Glu898=) rs774787183 0.00001
NM_015272.5(RPGRIP1L):c.2700A>G (p.Thr900=) rs768724944 0.00001
NM_015272.5(RPGRIP1L):c.2709A>G (p.Gln903=) rs1412609114 0.00001
NM_015272.5(RPGRIP1L):c.2817A>G (p.Glu939=) rs1966207157 0.00001
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=) rs754686404 0.00001
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=) rs556719572 0.00001
NM_015272.5(RPGRIP1L):c.2875-17T>G rs755648829 0.00001
NM_015272.5(RPGRIP1L):c.2875-7G>A rs778196818 0.00001
NM_015272.5(RPGRIP1L):c.291C>T (p.Gly97=) rs765369037 0.00001
NM_015272.5(RPGRIP1L):c.2931C>T (p.Phe977=) rs761869488 0.00001
NM_015272.5(RPGRIP1L):c.2946A>G (p.Pro982=) rs1254751869 0.00001
NM_015272.5(RPGRIP1L):c.297C>T (p.Pro99=) rs771166557 0.00001
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=) rs1165700039 0.00001
NM_015272.5(RPGRIP1L):c.3051T>C (p.His1017=) rs762829599 0.00001
NM_015272.5(RPGRIP1L):c.3099T>C (p.Asn1033=) rs1309372176 0.00001
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=) rs201711256 0.00001
NM_015272.5(RPGRIP1L):c.3210G>A (p.Leu1070=) rs375177321 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.3330C>T (p.Ser1110=) rs1304423187 0.00001
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=) rs1017593402 0.00001
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=) rs1388851938 0.00001
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=) rs1253988919 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3617-10T>C rs766297944 0.00001
NM_015272.5(RPGRIP1L):c.3673C>T (p.Leu1225=) rs1189160289 0.00001
NM_015272.5(RPGRIP1L):c.3701+12C>A rs931566897 0.00001
NM_015272.5(RPGRIP1L):c.3714C>T (p.Thr1238=) rs538306358 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=) rs780364836 0.00001
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=) rs1245403227 0.00001
NM_015272.5(RPGRIP1L):c.3828T>C (p.Asn1276=) rs1432386308 0.00001
NM_015272.5(RPGRIP1L):c.3831C>T (p.Ile1277=) rs760294595 0.00001
NM_015272.5(RPGRIP1L):c.3836-15C>A rs777880156 0.00001
NM_015272.5(RPGRIP1L):c.3836-20T>C rs1399609128 0.00001
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=) rs201132156 0.00001
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=) rs752951179 0.00001
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=) rs759792690 0.00001
NM_015272.5(RPGRIP1L):c.480G>A (p.Gly160=) rs766853230 0.00001
NM_015272.5(RPGRIP1L):c.489A>G (p.Lys163=) rs1352245119 0.00001
NM_015272.5(RPGRIP1L):c.48T>C (p.Asp16=) rs1046124483 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.510A>G (p.Leu170=) rs750991343 0.00001
NM_015272.5(RPGRIP1L):c.582A>G (p.Thr194=) rs924608253 0.00001
NM_015272.5(RPGRIP1L):c.632+9T>C rs1970128165 0.00001
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=) rs376808910 0.00001
NM_015272.5(RPGRIP1L):c.63C>G (p.Leu21=) rs200723710 0.00001
NM_015272.5(RPGRIP1L):c.642T>G (p.Val214=) rs1970032678 0.00001
NM_015272.5(RPGRIP1L):c.672G>A (p.Glu224=) rs1253337508 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.711G>A (p.Arg237=) rs371710677 0.00001
NM_015272.5(RPGRIP1L):c.777-4G>A rs374490708 0.00001
NM_015272.5(RPGRIP1L):c.78G>A (p.Gly26=) rs1276297529 0.00001
NM_015272.5(RPGRIP1L):c.867T>C (p.Phe289=) rs1178591734 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_015272.5(RPGRIP1L):c.909C>T (p.His303=) rs1313242175 0.00001
NM_015272.5(RPGRIP1L):c.936A>G (p.Glu312=) rs1454166907 0.00001
NM_015272.5(RPGRIP1L):c.99A>C (p.Thr33=) rs768545485 0.00001
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=)
NM_015272.5(RPGRIP1L):c.1029+10C>T rs542635220
NM_015272.5(RPGRIP1L):c.1029+15A>C
NM_015272.5(RPGRIP1L):c.1029+15A>T
NM_015272.5(RPGRIP1L):c.1029+16G>A
NM_015272.5(RPGRIP1L):c.1029+9C>G rs2151244866
NM_015272.5(RPGRIP1L):c.1029+9C>T
NM_015272.5(RPGRIP1L):c.102G>A (p.Arg34=) rs1598420614
NM_015272.5(RPGRIP1L):c.1030-13A>G
NM_015272.5(RPGRIP1L):c.1030-15T>G
NM_015272.5(RPGRIP1L):c.1030-18A>G
NM_015272.5(RPGRIP1L):c.1030-20T>C
NM_015272.5(RPGRIP1L):c.1030-7A>G rs2151236913
NM_015272.5(RPGRIP1L):c.1032G>A (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1032G>C (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1032G>T (p.Leu344=) rs1598372472
NM_015272.5(RPGRIP1L):c.1035G>A (p.Gln345=) rs1437242760
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=) rs2151236754
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=) rs2151236607
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=) rs2151236560
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=)
NM_015272.5(RPGRIP1L):c.1077G>A (p.Lys359=)
NM_015272.5(RPGRIP1L):c.1080A>G (p.Glu360=) rs2151236444
NM_015272.5(RPGRIP1L):c.1089T>C (p.Asp363=)
NM_015272.5(RPGRIP1L):c.1103+15C>T
NM_015272.5(RPGRIP1L):c.1103+17T>G
NM_015272.5(RPGRIP1L):c.1103+18G>A
NM_015272.5(RPGRIP1L):c.1103+18G>C
NM_015272.5(RPGRIP1L):c.1103+18del
NM_015272.5(RPGRIP1L):c.1103+8G>A rs564455571
NM_015272.5(RPGRIP1L):c.1103+9T>A
NM_015272.5(RPGRIP1L):c.1103+9T>C rs2151236168
NM_015272.5(RPGRIP1L):c.1104-13G>T
NM_015272.5(RPGRIP1L):c.1104-4G>C
NM_015272.5(RPGRIP1L):c.1110C>T (p.Phe370=) rs2151199080
NM_015272.5(RPGRIP1L):c.1116T>C (p.Ala372=)
NM_015272.5(RPGRIP1L):c.1119C>G (p.Ala373=) rs1347730821
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1137G>A (p.Lys379=)
NM_015272.5(RPGRIP1L):c.1143G>A (p.Lys381=)
NM_015272.5(RPGRIP1L):c.1149A>G (p.Gln383=) rs2151198800
NM_015272.5(RPGRIP1L):c.114T>A (p.Ser38=) rs2151379752
NM_015272.5(RPGRIP1L):c.1155G>T (p.Leu385=)
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=) rs2151198681
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=) rs1271430052
NM_015272.5(RPGRIP1L):c.1176C>G (p.Leu392=) rs759115653
NM_015272.5(RPGRIP1L):c.117C>G (p.Arg39=) rs763892496
NM_015272.5(RPGRIP1L):c.120G>A (p.Gln40=) rs1660515981
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=) rs1598357541
NM_015272.5(RPGRIP1L):c.1218C>T (p.Ile406=) rs1598357541
NM_015272.5(RPGRIP1L):c.1224C>T (p.Asp408=)
NM_015272.5(RPGRIP1L):c.1243+7T>A rs1302178966
NM_015272.5(RPGRIP1L):c.1243+8T>C rs2151198059
NM_015272.5(RPGRIP1L):c.1243+9G>A rs781524446
NM_015272.5(RPGRIP1L):c.1244-10del rs1967515071
NM_015272.5(RPGRIP1L):c.1244-19T>C
NM_015272.5(RPGRIP1L):c.1244-9A>G rs2151165404
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=) rs2151165227
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=)
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=) rs1423077786
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=) rs2151164876
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=) rs1967498439
NM_015272.5(RPGRIP1L):c.1350+15T>G
NM_015272.5(RPGRIP1L):c.1350+17_1350+20del
NM_015272.5(RPGRIP1L):c.1351-12A>C
NM_015272.5(RPGRIP1L):c.1351-12A>G rs374000859
NM_015272.5(RPGRIP1L):c.1351-13dup
NM_015272.5(RPGRIP1L):c.1351-15_1351-12del
NM_015272.5(RPGRIP1L):c.1351-16A>T
NM_015272.5(RPGRIP1L):c.1351-18T>C
NM_015272.5(RPGRIP1L):c.1351-4G>A rs1479026011
NM_015272.5(RPGRIP1L):c.1351-9C>T
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=) rs2151162320
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=)
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=)
NM_015272.5(RPGRIP1L):c.1401+12A>T rs2151161924
NM_015272.5(RPGRIP1L):c.1401+13A>G
NM_015272.5(RPGRIP1L):c.1401+14C>T
NM_015272.5(RPGRIP1L):c.1401+16T>C
NM_015272.5(RPGRIP1L):c.1401+18A>G
NM_015272.5(RPGRIP1L):c.1401+20C>A
NM_015272.5(RPGRIP1L):c.1401+20C>T
NM_015272.5(RPGRIP1L):c.1401+8T>C rs2151161961
NM_015272.5(RPGRIP1L):c.1401+9C>G rs768434507
NM_015272.5(RPGRIP1L):c.1401+9C>T rs768434507
NM_015272.5(RPGRIP1L):c.1402-11T>C
NM_015272.5(RPGRIP1L):c.1402-13dup rs1361189318
NM_015272.5(RPGRIP1L):c.1402-14G>A
NM_015272.5(RPGRIP1L):c.1402-18A>G
NM_015272.5(RPGRIP1L):c.1404T>C (p.Ala468=) rs2151157523
NM_015272.5(RPGRIP1L):c.1416A>G (p.Gln472=) rs2151157400
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del) rs760952407
NM_015272.5(RPGRIP1L):c.1428C>T (p.Asp476=) rs2151157288
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=) rs2151157214
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=)
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=)
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=) rs777340505
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=) rs2151156589
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=) rs1472969606
NM_015272.5(RPGRIP1L):c.1524G>A (p.Glu508=) rs1238972011
NM_015272.5(RPGRIP1L):c.1525C>T (p.Leu509=) rs780528142
NM_015272.5(RPGRIP1L):c.1536A>G (p.Thr512=) rs1020243535
NM_015272.5(RPGRIP1L):c.153A>G (p.Glu51=) rs1970746720
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=)
NM_015272.5(RPGRIP1L):c.1581+11dup
NM_015272.5(RPGRIP1L):c.1581+15T>G
NM_015272.5(RPGRIP1L):c.1581+17A>G
NM_015272.5(RPGRIP1L):c.1581+20G>A
NM_015272.5(RPGRIP1L):c.1581+20G>C
NM_015272.5(RPGRIP1L):c.1581+9A>G
NM_015272.5(RPGRIP1L):c.1582-20T>G
NM_015272.5(RPGRIP1L):c.1582-4G>A rs1967278713
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=)
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=)
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=) rs1178582517
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=)
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=) rs2151150317
NM_015272.5(RPGRIP1L):c.1656T>C (p.Val552=)
NM_015272.5(RPGRIP1L):c.1656T>G (p.Val552=) rs2151150242
NM_015272.5(RPGRIP1L):c.1659T>C (p.His553=) rs1227717832
NM_015272.5(RPGRIP1L):c.1672A>C (p.Arg558=)
NM_015272.5(RPGRIP1L):c.1680A>G (p.Ala560=)
NM_015272.5(RPGRIP1L):c.1693C>T (p.Leu565=) rs2151149921
NM_015272.5(RPGRIP1L):c.1699+13C>T rs1212500499
NM_015272.5(RPGRIP1L):c.1699+14G>A rs188075133
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1699+17T>A
NM_015272.5(RPGRIP1L):c.1699+9T>C
NM_015272.5(RPGRIP1L):c.1700-16G>T rs1555604481
NM_015272.5(RPGRIP1L):c.1700-4G>A rs1966916853
NM_015272.5(RPGRIP1L):c.1700-4G>T rs1966916853
NM_015272.5(RPGRIP1L):c.1700-9C>G
NM_015272.5(RPGRIP1L):c.1700-9C>T rs2151128760
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=) rs2151128298
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=) rs2151128005
NM_015272.5(RPGRIP1L):c.1809C>G (p.Gly603=)
NM_015272.5(RPGRIP1L):c.1815T>C (p.Asn605=) rs2151127604
NM_015272.5(RPGRIP1L):c.1818A>G (p.Leu606=)
NM_015272.5(RPGRIP1L):c.1827C>T (p.Ile609=)
NM_015272.5(RPGRIP1L):c.1830T>C (p.His610=)
NM_015272.5(RPGRIP1L):c.1833C>T (p.Ile611=) rs756141067
NM_015272.5(RPGRIP1L):c.1842A>G (p.Val614=) rs781049099
NM_015272.5(RPGRIP1L):c.1854T>G (p.Ser618=)
NM_015272.5(RPGRIP1L):c.1860T>C (p.Val620=)
NM_015272.5(RPGRIP1L):c.1861T>C (p.Leu621=)
NM_015272.5(RPGRIP1L):c.1884G>A (p.Glu628=) rs2151126933
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=)
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=)
NM_015272.5(RPGRIP1L):c.1926A>T (p.Leu642=)
NM_015272.5(RPGRIP1L):c.1935T>A (p.Thr645=) rs2151126431
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1959C>T (p.Pro653=) rs1213772384
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=)
NM_015272.5(RPGRIP1L):c.1986T>C (p.Leu662=) rs2151125842
NM_015272.5(RPGRIP1L):c.198G>A (p.Gln66=) rs2151379187
NM_015272.5(RPGRIP1L):c.1995T>C (p.Val665=) rs2151125697
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=)
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=)
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=)
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=)
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=)
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2070T>C (p.Tyr690=)
NM_015272.5(RPGRIP1L):c.207C>G (p.Arg69=)
NM_015272.5(RPGRIP1L):c.2115A>G (p.Glu705=)
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=)
NM_015272.5(RPGRIP1L):c.2152+10A>C rs1966875026
NM_015272.5(RPGRIP1L):c.2152+10A>G
NM_015272.5(RPGRIP1L):c.2152+11T>C
NM_015272.5(RPGRIP1L):c.2152+19C>A rs754811161
NM_015272.5(RPGRIP1L):c.2152+19C>G rs754811161
NM_015272.5(RPGRIP1L):c.2152+7A>G
NM_015272.5(RPGRIP1L):c.2152+8C>G rs2151124212
NM_015272.5(RPGRIP1L):c.2153-12A>G rs2151102687
NM_015272.5(RPGRIP1L):c.2153-13T>C
NM_015272.5(RPGRIP1L):c.2153-14G>A
NM_015272.5(RPGRIP1L):c.2153-14G>C
NM_015272.5(RPGRIP1L):c.2153-15T>C
NM_015272.5(RPGRIP1L):c.2153-16A>G
NM_015272.5(RPGRIP1L):c.2153-16A>T
NM_015272.5(RPGRIP1L):c.2153-19G>A
NM_015272.5(RPGRIP1L):c.2153-19G>T rs988899852
NM_015272.5(RPGRIP1L):c.2153-20_2153-18del
NM_015272.5(RPGRIP1L):c.2153-4G>A rs201380599
NM_015272.5(RPGRIP1L):c.2153-5del
NM_015272.5(RPGRIP1L):c.2153-7T>A
NM_015272.5(RPGRIP1L):c.2172A>G (p.Pro724=) rs1472949647
NM_015272.5(RPGRIP1L):c.2184A>C (p.Thr728=) rs2151102385
NM_015272.5(RPGRIP1L):c.2184A>G (p.Thr728=)
NM_015272.5(RPGRIP1L):c.2190A>G (p.Glu730=)
NM_015272.5(RPGRIP1L):c.2193C>T (p.Tyr731=)
NM_015272.5(RPGRIP1L):c.2214C>G (p.Pro738=)
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=)
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=) rs267604575
NM_015272.5(RPGRIP1L):c.2241A>T (p.Arg747=) rs2151101997
NM_015272.5(RPGRIP1L):c.2244A>G (p.Glu748=) rs2151101953
NM_015272.5(RPGRIP1L):c.225T>A (p.Ile75=) rs2151379048
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=) rs775616241
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=) rs2151101735
NM_015272.5(RPGRIP1L):c.2277T>C (p.Asn759=) rs2151101706
NM_015272.5(RPGRIP1L):c.2286G>A (p.Gly762=)
NM_015272.5(RPGRIP1L):c.2286G>T (p.Gly762=) rs769599317
NM_015272.5(RPGRIP1L):c.230+10A>G
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.230+14G>T
NM_015272.5(RPGRIP1L):c.230+17T>C
NM_015272.5(RPGRIP1L):c.230+18T>G
NM_015272.5(RPGRIP1L):c.230+19T>C
NM_015272.5(RPGRIP1L):c.230+9A>G rs774753693
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=) rs1338012833
NM_015272.5(RPGRIP1L):c.2304+12T>G
NM_015272.5(RPGRIP1L):c.2304+14G>C
NM_015272.5(RPGRIP1L):c.2304+18T>A
NM_015272.5(RPGRIP1L):c.2304+18T>C rs780469767
NM_015272.5(RPGRIP1L):c.2304+8C>T rs1421469718
NM_015272.5(RPGRIP1L):c.2304+9A>C
NM_015272.5(RPGRIP1L):c.2304+9A>G rs1461433745
NM_015272.5(RPGRIP1L):c.2304+9A>T rs1461433745
NM_015272.5(RPGRIP1L):c.2305-11T>C
NM_015272.5(RPGRIP1L):c.2305-15T>C
NM_015272.5(RPGRIP1L):c.2305-8T>C
NM_015272.5(RPGRIP1L):c.2305-8T>G rs953486434
NM_015272.5(RPGRIP1L):c.231-10A>C
NM_015272.5(RPGRIP1L):c.231-13A>C
NM_015272.5(RPGRIP1L):c.231-4C>G rs774628905
NM_015272.5(RPGRIP1L):c.231-5C>T
NM_015272.5(RPGRIP1L):c.2319A>C (p.Ala773=) rs2151084071
NM_015272.5(RPGRIP1L):c.2334A>G (p.Gln778=) rs1435869251
NM_015272.5(RPGRIP1L):c.2346A>G (p.Thr782=)
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.2352C>A (p.Ser784=)
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=) rs1468139751
NM_015272.5(RPGRIP1L):c.2361C>A (p.Gly787=) rs1481436139
NM_015272.5(RPGRIP1L):c.2370T>C (p.Asn790=) rs2151083713
NM_015272.5(RPGRIP1L):c.2379C>T (p.His793=) rs1567830747
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2391A>G (p.Arg797=)
NM_015272.5(RPGRIP1L):c.2418A>G (p.Ala806=) rs1966512167
NM_015272.5(RPGRIP1L):c.2424C>T (p.His808=) rs771774137
NM_015272.5(RPGRIP1L):c.2425C>T (p.Leu809=)
NM_015272.5(RPGRIP1L):c.243G>A (p.Lys81=)
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=) rs2151083124
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=) rs778075524
NM_015272.5(RPGRIP1L):c.2481A>C (p.Thr827=)
NM_015272.5(RPGRIP1L):c.2484T>G (p.Ala828=) rs2151082787
NM_015272.5(RPGRIP1L):c.2487C>T (p.Ile829=) rs2151082774
NM_015272.5(RPGRIP1L):c.2490T>C (p.Ile830=)
NM_015272.5(RPGRIP1L):c.2496T>C (p.Ser832=) rs2151082740
NM_015272.5(RPGRIP1L):c.2508A>G (p.Pro836=) rs753693082
NM_015272.5(RPGRIP1L):c.2508A>T (p.Pro836=) rs753693082
NM_015272.5(RPGRIP1L):c.250C>A (p.Arg84=)
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=) rs760455293
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=)
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=) rs1966500554
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=) rs2151082234
NM_015272.5(RPGRIP1L):c.2592T>C (p.Tyr864=)
NM_015272.5(RPGRIP1L):c.2595T>G (p.Val865=) rs546554009
NM_015272.5(RPGRIP1L):c.2601T>C (p.Asp867=)
NM_015272.5(RPGRIP1L):c.2604T>C (p.Asp868=) rs1567829935
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=) rs752587948
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=)
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=)
NM_015272.5(RPGRIP1L):c.267G>A (p.Lys89=) rs1434968352
NM_015272.5(RPGRIP1L):c.2683+15T>C
NM_015272.5(RPGRIP1L):c.2683+15T>G
NM_015272.5(RPGRIP1L):c.2684-14T>A
NM_015272.5(RPGRIP1L):c.2684-14T>C
NM_015272.5(RPGRIP1L):c.2684-15A>C
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=) rs1038661631
NM_015272.5(RPGRIP1L):c.2730C>T (p.Ile910=)
NM_015272.5(RPGRIP1L):c.2733T>C (p.His911=) rs780925825
NM_015272.5(RPGRIP1L):c.2740T>C (p.Leu914=) rs746733895
NM_015272.5(RPGRIP1L):c.2751A>G (p.Lys917=) rs2151059675
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=) rs2151059581
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=) rs1567825162
NM_015272.5(RPGRIP1L):c.2778A>G (p.Ser926=) rs1293313012
NM_015272.5(RPGRIP1L):c.2781A>T (p.Ile927=)
NM_015272.5(RPGRIP1L):c.2784A>G (p.Thr928=)
NM_015272.5(RPGRIP1L):c.27A>C (p.Ala9=) rs765315344
NM_015272.5(RPGRIP1L):c.27A>G (p.Ala9=) rs765315344
NM_015272.5(RPGRIP1L):c.2823A>G (p.Pro941=) rs1966206646
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=) rs2151353718
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=) rs2151058811
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=)
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.2874+10A>C
NM_015272.5(RPGRIP1L):c.2874+11G>A
NM_015272.5(RPGRIP1L):c.2874+13G>A
NM_015272.5(RPGRIP1L):c.2874+18_2874+19del
NM_015272.5(RPGRIP1L):c.2875-15G>A
NM_015272.5(RPGRIP1L):c.2875-17T>C
NM_015272.5(RPGRIP1L):c.2875-20C>T
NM_015272.5(RPGRIP1L):c.2875-4T>C rs2151057424
NM_015272.5(RPGRIP1L):c.2875-5C>G
NM_015272.5(RPGRIP1L):c.2875-5C>T rs758927533
NM_015272.5(RPGRIP1L):c.2875-6T>C
NM_015272.5(RPGRIP1L):c.2883A>G (p.Arg961=) rs1459496882
NM_015272.5(RPGRIP1L):c.2886T>G (p.Pro962=)
NM_015272.5(RPGRIP1L):c.2913A>C (p.Val971=) rs766575191
NM_015272.5(RPGRIP1L):c.2919G>A (p.Lys973=) rs2151056978
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=) rs765369037
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=)
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=)
NM_015272.5(RPGRIP1L):c.2958+10A>G rs2151056471
NM_015272.5(RPGRIP1L):c.2958+11G>T
NM_015272.5(RPGRIP1L):c.2958+12A>G
NM_015272.5(RPGRIP1L):c.2958+4_2958+7dup rs2151056517
NM_015272.5(RPGRIP1L):c.2959-11A>G
NM_015272.5(RPGRIP1L):c.2959-12C>T
NM_015272.5(RPGRIP1L):c.2959-13A>G
NM_015272.5(RPGRIP1L):c.2959-8A>G
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=)
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=)
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=) rs2151040746
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=) rs2151040617
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=)
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=)
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=)
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3042T>C (p.Thr1014=)
NM_015272.5(RPGRIP1L):c.3045_3060+12dup
NM_015272.5(RPGRIP1L):c.3060+10T>A rs2151039825
NM_015272.5(RPGRIP1L):c.3060+7A>G
NM_015272.5(RPGRIP1L):c.3060+8T>C
NM_015272.5(RPGRIP1L):c.3061-18G>T
NM_015272.5(RPGRIP1L):c.3061-7T>C rs1965940741
NM_015272.5(RPGRIP1L):c.3069A>G (p.Gln1023=)
NM_015272.5(RPGRIP1L):c.3078T>C (p.Ser1026=)
NM_015272.5(RPGRIP1L):c.3084T>C (p.Asp1028=) rs1965938868
NM_015272.5(RPGRIP1L):c.3090A>G (p.Val1030=) rs1965937231
NM_015272.5(RPGRIP1L):c.3138A>G (p.Leu1046=) rs1306386140
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=)
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=) rs2151036210
NM_015272.5(RPGRIP1L):c.3162A>G (p.Glu1054=) rs2151036177
NM_015272.5(RPGRIP1L):c.3168C>T (p.Ser1056=)
NM_015272.5(RPGRIP1L):c.3169T>C (p.Leu1057=)
NM_015272.5(RPGRIP1L):c.3171G>A (p.Leu1057=)
NM_015272.5(RPGRIP1L):c.3174A>G (p.Ala1058=) rs1965928165
NM_015272.5(RPGRIP1L):c.3192A>C (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=) rs956639777
NM_015272.5(RPGRIP1L):c.3220+7T>G
NM_015272.5(RPGRIP1L):c.3220+8T>C
NM_015272.5(RPGRIP1L):c.3221-14T>A rs761174078
NM_015272.5(RPGRIP1L):c.3221-15T>C
NM_015272.5(RPGRIP1L):c.3221-17T>C
NM_015272.5(RPGRIP1L):c.3221-20C>T
NM_015272.5(RPGRIP1L):c.3221-7T>C rs1170674790
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=)
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=)
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=)
NM_015272.5(RPGRIP1L):c.327A>G (p.Glu109=)
NM_015272.5(RPGRIP1L):c.3294+10T>C rs201237327
NM_015272.5(RPGRIP1L):c.3294+11T>C
NM_015272.5(RPGRIP1L):c.3294+17C>T
NM_015272.5(RPGRIP1L):c.3294+19A>G
NM_015272.5(RPGRIP1L):c.3294+9C>T
NM_015272.5(RPGRIP1L):c.3295-10T>G
NM_015272.5(RPGRIP1L):c.3295-16T>A
NM_015272.5(RPGRIP1L):c.3295-18_3295-17insC
NM_015272.5(RPGRIP1L):c.3295-20T>G
NM_015272.5(RPGRIP1L):c.3295-4A>G
NM_015272.5(RPGRIP1L):c.3295-6A>G
NM_015272.5(RPGRIP1L):c.3295-7dup
NM_015272.5(RPGRIP1L):c.3295-9T>C
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=) rs1970437460
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3315G>A (p.Gly1105=)
NM_015272.5(RPGRIP1L):c.3321G>A (p.Gly1107=)
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=)
NM_015272.5(RPGRIP1L):c.3339A>C (p.Ser1113=)
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=)
NM_015272.5(RPGRIP1L):c.3363G>A (p.Pro1121=)
NM_015272.5(RPGRIP1L):c.336T>A (p.Ile112=)
NM_015272.5(RPGRIP1L):c.336T>C (p.Ile112=)
NM_015272.5(RPGRIP1L):c.3390C>T (p.Ala1130=)
NM_015272.5(RPGRIP1L):c.3393C>A (p.Ser1131=)
NM_015272.5(RPGRIP1L):c.3396A>G (p.Gln1132=)
NM_015272.5(RPGRIP1L):c.339G>A (p.Glu113=) rs1970436686
NM_015272.5(RPGRIP1L):c.3423C>T (p.His1141=)
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=)
NM_015272.5(RPGRIP1L):c.3432+13A>T
NM_015272.5(RPGRIP1L):c.3432+20G>T
NM_015272.5(RPGRIP1L):c.3433-13G>T
NM_015272.5(RPGRIP1L):c.3433-7T>C
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=)
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=)
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=) rs1964562143
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=)
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=) rs2150964666
NM_015272.5(RPGRIP1L):c.3514C>T (p.Leu1172=) rs2150964607
NM_015272.5(RPGRIP1L):c.3516G>C (p.Leu1172=) rs1388851938
NM_015272.5(RPGRIP1L):c.3528T>C (p.Cys1176=) rs1449202929
NM_015272.5(RPGRIP1L):c.3529C>A (p.Arg1177=)
NM_015272.5(RPGRIP1L):c.3531A>T (p.Arg1177=) rs2150964540
NM_015272.5(RPGRIP1L):c.3552A>G (p.Glu1184=)
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=) rs2150964438
NM_015272.5(RPGRIP1L):c.3561C>T (p.Pro1187=) rs557855890
NM_015272.5(RPGRIP1L):c.3573A>C (p.Pro1191=) rs2150964332
NM_015272.5(RPGRIP1L):c.357T>G (p.Val119=)
NM_015272.5(RPGRIP1L):c.3591G>A (p.Gln1197=) rs1598241420
NM_015272.5(RPGRIP1L):c.3616+12T>G
NM_015272.5(RPGRIP1L):c.3616+14A>G
NM_015272.5(RPGRIP1L):c.3616+18G>T rs1053189955
NM_015272.5(RPGRIP1L):c.3616+9G>C
NM_015272.5(RPGRIP1L):c.3617-12C>A
NM_015272.5(RPGRIP1L):c.3617-13T>C
NM_015272.5(RPGRIP1L):c.3617-4A>G rs771975767
NM_015272.5(RPGRIP1L):c.3617-5T>C
NM_015272.5(RPGRIP1L):c.3617-6G>A
NM_015272.5(RPGRIP1L):c.3617-6G>T rs377099270
NM_015272.5(RPGRIP1L):c.3617-7G>T rs1363436397
NM_015272.5(RPGRIP1L):c.3617-9T>C
NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=) rs2150938382
NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=) rs2150938143
NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=)
NM_015272.5(RPGRIP1L):c.3701+13A>G
NM_015272.5(RPGRIP1L):c.3701+16C>A
NM_015272.5(RPGRIP1L):c.3701+19A>G
NM_015272.5(RPGRIP1L):c.3701+20A>G
NM_015272.5(RPGRIP1L):c.3701+9T>C
NM_015272.5(RPGRIP1L):c.3702-14C>G
NM_015272.5(RPGRIP1L):c.3702-20T>G
NM_015272.5(RPGRIP1L):c.3702-4C>T
NM_015272.5(RPGRIP1L):c.3702-6T>C
NM_015272.5(RPGRIP1L):c.3702-9C>T
NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=)
NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=)
NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=)
NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=)
NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=)
NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=)
NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=) rs1963627514
NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=) rs1963626162
NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)
NM_015272.5(RPGRIP1L):c.3835+12A>T
NM_015272.5(RPGRIP1L):c.3835+13G>A
NM_015272.5(RPGRIP1L):c.3835+14T>C
NM_015272.5(RPGRIP1L):c.3835+15G>A
NM_015272.5(RPGRIP1L):c.3835+18G>T
NM_015272.5(RPGRIP1L):c.3835+19C>T
NM_015272.5(RPGRIP1L):c.3835+20_3835+34del
NM_015272.5(RPGRIP1L):c.3836-13C>G rs886038620
NM_015272.5(RPGRIP1L):c.3836-16G>A
NM_015272.5(RPGRIP1L):c.3836-18C>T
NM_015272.5(RPGRIP1L):c.3836-19C>G rs1276455735
NM_015272.5(RPGRIP1L):c.3836-19C>T
NM_015272.5(RPGRIP1L):c.3836-21_3836-20del
NM_015272.5(RPGRIP1L):c.3836-4C>A rs1233984342
NM_015272.5(RPGRIP1L):c.3836-5C>T
NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=) rs2150909559
NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=) rs754697392
NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=) rs2151352728
NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=) rs2150909430
NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=) rs1963406998
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=) rs2150909277
NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=) rs2151352510
NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=)
NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=)
NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=) rs748120890
NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=) rs2151351733
NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=)
NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=)
NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=)
NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=) rs2151351392
NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=) rs2151351081
NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=) rs2151350970
NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=) rs2151350826
NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=)
NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=)
NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=) rs2151350777
NM_015272.5(RPGRIP1L):c.529+13T>C
NM_015272.5(RPGRIP1L):c.529+14T>C
NM_015272.5(RPGRIP1L):c.529+15A>G
NM_015272.5(RPGRIP1L):c.529+16C>G rs765320880
NM_015272.5(RPGRIP1L):c.529+19T>G
NM_015272.5(RPGRIP1L):c.529+7C>G rs1970421028
NM_015272.5(RPGRIP1L):c.529+7C>T rs1970421028
NM_015272.5(RPGRIP1L):c.530-10T>C
NM_015272.5(RPGRIP1L):c.530-13A>G
NM_015272.5(RPGRIP1L):c.530-16A>G
NM_015272.5(RPGRIP1L):c.530-20T>C
NM_015272.5(RPGRIP1L):c.530-8G>C
NM_015272.5(RPGRIP1L):c.530-9T>C
NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=) rs1970130340
NM_015272.5(RPGRIP1L):c.632+16T>C
NM_015272.5(RPGRIP1L):c.632+7G>A rs746526374
NM_015272.5(RPGRIP1L):c.632+9_632+21del rs2151325015
NM_015272.5(RPGRIP1L):c.633-14G>T
NM_015272.5(RPGRIP1L):c.633-15G>A
NM_015272.5(RPGRIP1L):c.633-19C>T rs2151318621
NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=)
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=) rs760486367
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=) rs1970027900
NM_015272.5(RPGRIP1L):c.699A>G (p.Lys233=) rs2151318068
NM_015272.5(RPGRIP1L):c.6T>C (p.Ser2=) rs2151417590
NM_015272.5(RPGRIP1L):c.702T>A (p.Thr234=)
NM_015272.5(RPGRIP1L):c.705G>A (p.Gln235=) rs752815435
NM_015272.5(RPGRIP1L):c.714A>G (p.Arg238=) rs2151317940
NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=) rs2151317865
NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=) rs2151317799
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=)
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=)
NM_015272.5(RPGRIP1L):c.776+17A>G
NM_015272.5(RPGRIP1L):c.776+19A>G
NM_015272.5(RPGRIP1L):c.776+8A>T
NM_015272.5(RPGRIP1L):c.777-12A>G
NM_015272.5(RPGRIP1L):c.777-17T>G
NM_015272.5(RPGRIP1L):c.777-20T>C
NM_015272.5(RPGRIP1L):c.777-6C>G
NM_015272.5(RPGRIP1L):c.777-7T>C rs1969053313
NM_015272.5(RPGRIP1L):c.777-8C>T
NM_015272.5(RPGRIP1L):c.777-9A>T rs1969053796
NM_015272.5(RPGRIP1L):c.780A>G (p.Ser260=) rs201761685
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=) rs773626315
NM_015272.5(RPGRIP1L):c.789G>A (p.Arg263=)
NM_015272.5(RPGRIP1L):c.78G>T (p.Gly26=) rs1276297529
NM_015272.5(RPGRIP1L):c.810G>A (p.Lys270=)
NM_015272.5(RPGRIP1L):c.813T>C (p.Leu271=) rs2151259061
NM_015272.5(RPGRIP1L):c.816T>C (p.His272=)
NM_015272.5(RPGRIP1L):c.822G>A (p.Gln274=) rs2151258993
NM_015272.5(RPGRIP1L):c.825A>G (p.Leu275=)
NM_015272.5(RPGRIP1L):c.85+12T>A
NM_015272.5(RPGRIP1L):c.85+12T>C
NM_015272.5(RPGRIP1L):c.85+17T>C
NM_015272.5(RPGRIP1L):c.86-12G>A
NM_015272.5(RPGRIP1L):c.86-12_86-8del
NM_015272.5(RPGRIP1L):c.86-18A>G
NM_015272.5(RPGRIP1L):c.86-7T>G rs2151379974
NM_015272.5(RPGRIP1L):c.864A>G (p.Lys288=) rs2151258723
NM_015272.5(RPGRIP1L):c.882+10T>C rs1598379616
NM_015272.5(RPGRIP1L):c.882+17T>C
NM_015272.5(RPGRIP1L):c.882+9A>G
NM_015272.5(RPGRIP1L):c.883-14T>C
NM_015272.5(RPGRIP1L):c.883-15C>A
NM_015272.5(RPGRIP1L):c.883-15_883-14del
NM_015272.5(RPGRIP1L):c.883-16T>C
NM_015272.5(RPGRIP1L):c.883-20A>G
NM_015272.5(RPGRIP1L):c.883-3del
NM_015272.5(RPGRIP1L):c.883-6T>C
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=) rs1968869903
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=) rs1968868729
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=) rs2151245638
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=) rs1968866974
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=)
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=)
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=) rs2151245344
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=)
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=)
NM_015272.5(RPGRIP1L):c.999T>A (p.Ser333=) rs1022259426
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_015272.5(RPGRIP1L):c.99A>G (p.Thr33=)

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