ClinVar Miner

List of variants in gene RPGRIP1L reported as uncertain significance for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 568
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
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.*1385A>G rs150194508 0.00201
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
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.2153-4G>C rs201380599 0.00156
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
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.*1510G>A rs140374059 0.00079
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 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.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys) rs374860980 0.00015
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile) rs138383101 0.00011
NM_015272.5(RPGRIP1L):c.2304G>A (p.Ser768=) rs770503381 0.00011
NM_015272.5(RPGRIP1L):c.3430C>G (p.Gln1144Glu) rs1050777749 0.00011
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2105A>G (p.Glu702Gly) rs193282093 0.00009
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015272.5(RPGRIP1L):c.389A>G (p.Lys130Arg) rs765642149 0.00008
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1397T>C (p.Ile466Thr) rs199786347 0.00006
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp) rs762264695 0.00006
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn) rs766943204 0.00006
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala) rs61742648 0.00006
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn) rs370655253 0.00006
NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val) rs755820734 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1401+4A>G rs727503880 0.00004
NM_015272.5(RPGRIP1L):c.1448T>C (p.Val483Ala) rs146565951 0.00004
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00004
NM_015272.5(RPGRIP1L):c.1628A>G (p.Asp543Gly) rs776600721 0.00004
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln) rs902687917 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3739G>A (p.Glu1247Lys) rs201312119 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp) rs369055168 0.00004
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1393C>T (p.Leu465Phe) rs758403877 0.00003
NM_015272.5(RPGRIP1L):c.140G>A (p.Arg47His) rs773558676 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His) rs374157187 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1816C>G (p.Leu606Val) rs552056656 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2104G>A (p.Glu702Lys) rs199975230 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.2425C>G (p.Leu809Val) rs370180090 0.00003
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp) rs770098954 0.00003
NM_015272.5(RPGRIP1L):c.2542A>G (p.Met848Val) rs767112083 0.00003
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val) rs763369161 0.00003
NM_015272.5(RPGRIP1L):c.3013A>G (p.Ile1005Val) rs780310164 0.00003
NM_015272.5(RPGRIP1L):c.3202G>A (p.Glu1068Lys) rs771457754 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg) rs139246920 0.00003
NM_015272.5(RPGRIP1L):c.663G>T (p.Gln221His) rs776104875 0.00003
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr) rs377035693 0.00002
NM_015272.5(RPGRIP1L):c.1952T>C (p.Leu651Pro) rs752598081 0.00002
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe) rs758370789 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser) rs565152814 0.00002
NM_015272.5(RPGRIP1L):c.2629A>G (p.Ile877Val) rs779895977 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.2677A>T (p.Ile893Phe) rs748601161 0.00002
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln) rs549881475 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3206A>G (p.Asp1069Gly) rs200726671 0.00002
NM_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val) rs1965837844 0.00002
NM_015272.5(RPGRIP1L):c.3335T>A (p.Ile1112Asn) rs986384855 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3625G>A (p.Val1209Met) rs373993184 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_015272.5(RPGRIP1L):c.494A>G (p.Asn165Ser) rs749282106 0.00002
NM_015272.5(RPGRIP1L):c.634G>C (p.Glu212Gln) rs766043636 0.00002
NM_015272.5(RPGRIP1L):c.659G>A (p.Gly220Asp) rs139259555 0.00002
NM_015272.5(RPGRIP1L):c.85G>A (p.Glu29Lys) rs771740102 0.00002
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.1000A>G (p.Met334Val) rs1182455258 0.00001
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.101G>A (p.Arg34Gln) rs761513762 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.106A>G (p.Met36Val) rs867836079 0.00001
NM_015272.5(RPGRIP1L):c.1103+5A>G rs773167560 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1150C>G (p.Gln384Glu) rs1968112121 0.00001
NM_015272.5(RPGRIP1L):c.116G>A (p.Arg39His) rs886042345 0.00001
NM_015272.5(RPGRIP1L):c.1190A>C (p.Lys397Thr) rs571212511 0.00001
NM_015272.5(RPGRIP1L):c.122C>T (p.Ala41Val) rs1365531088 0.00001
NM_015272.5(RPGRIP1L):c.1257A>T (p.Lys419Asn) rs976533506 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys) rs1296403401 0.00001
NM_015272.5(RPGRIP1L):c.1376T>G (p.Leu459Trp) rs1430832205 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1483A>G (p.Met495Val) rs781046784 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1610T>C (p.Met537Thr) rs752785301 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val) rs553739434 0.00001
NM_015272.5(RPGRIP1L):c.1748C>G (p.Pro583Arg) rs548348340 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1840G>C (p.Val614Leu) rs750811808 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.1895T>G (p.Phe632Cys) rs1381232476 0.00001
NM_015272.5(RPGRIP1L):c.1936C>T (p.Pro646Ser) rs1442222835 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp) rs763167296 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2078T>C (p.Ile693Thr) rs766197081 0.00001
NM_015272.5(RPGRIP1L):c.2096A>G (p.Lys699Arg) rs764289143 0.00001
NM_015272.5(RPGRIP1L):c.2120G>T (p.Ser707Ile) rs151281974 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.235G>A (p.Ala79Thr) rs763182141 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2476G>A (p.Asp826Asn) rs746015353 0.00001
NM_015272.5(RPGRIP1L):c.2519A>G (p.Asp840Gly) rs949487941 0.00001
NM_015272.5(RPGRIP1L):c.2571G>C (p.Lys857Asn) rs149833407 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.2666A>G (p.His889Arg) rs1228542037 0.00001
NM_015272.5(RPGRIP1L):c.2672G>A (p.Arg891Lys) rs200531735 0.00001
NM_015272.5(RPGRIP1L):c.2723G>A (p.Gly908Asp) rs1478290807 0.00001
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596 0.00001
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser) rs1187280209 0.00001
NM_015272.5(RPGRIP1L):c.3089T>C (p.Val1030Ala) rs1965937862 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.316G>A (p.Val106Met) rs1970438037 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3255C>A (p.Asp1085Glu) rs1965840419 0.00001
NM_015272.5(RPGRIP1L):c.3263T>G (p.Ile1088Ser) rs1185071339 0.00001
NM_015272.5(RPGRIP1L):c.3271C>A (p.Pro1091Thr) rs1436900505 0.00001
NM_015272.5(RPGRIP1L):c.3295-9T>G rs1406378943 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3356G>A (p.Arg1119His) rs1207253947 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp) rs774549370 0.00001
NM_015272.5(RPGRIP1L):c.3491C>T (p.Thr1164Ile) rs745796721 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3530G>A (p.Arg1177Gln) rs754491479 0.00001
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile) rs905516252 0.00001
NM_015272.5(RPGRIP1L):c.3545C>T (p.Pro1182Leu) rs1446510817 0.00001
NM_015272.5(RPGRIP1L):c.3611G>A (p.Ser1204Asn) rs746750855 0.00001
NM_015272.5(RPGRIP1L):c.3617-3T>C rs1964004072 0.00001
NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val) rs778319575 0.00001
NM_015272.5(RPGRIP1L):c.3701+3A>G rs188594966 0.00001
NM_015272.5(RPGRIP1L):c.3701+4T>C rs767564258 0.00001
NM_015272.5(RPGRIP1L):c.3764T>C (p.Ile1255Thr) rs749664648 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3819T>G (p.Ile1273Met) rs1244061656 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.386T>A (p.Leu129His) rs927281262 0.00001
NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu) rs1406955571 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_015272.5(RPGRIP1L):c.643A>G (p.Ile215Val) rs930198445 0.00001
NM_015272.5(RPGRIP1L):c.728T>C (p.Ile243Thr) rs766117001 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NC_000016.9:g.(?_53635988)_(53656288_?)del
NC_000016.9:g.(?_53656111)_(53656288_?)dup
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.100C>T (p.Arg34Trp)
NM_015272.5(RPGRIP1L):c.1029+6C>T
NM_015272.5(RPGRIP1L):c.1031T>A (p.Leu344Gln) rs2151236847
NM_015272.5(RPGRIP1L):c.1040G>A (p.Arg347Lys)
NM_015272.5(RPGRIP1L):c.1058A>G (p.Lys353Arg)
NM_015272.5(RPGRIP1L):c.1062A>T (p.Glu354Asp)
NM_015272.5(RPGRIP1L):c.110A>T (p.Lys37Met) rs1403169303
NM_015272.5(RPGRIP1L):c.111G>T (p.Lys37Asn)
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.116G>T (p.Arg39Leu)
NM_015272.5(RPGRIP1L):c.1181C>T (p.Thr394Ile)
NM_015272.5(RPGRIP1L):c.1202C>T (p.Thr401Ile)
NM_015272.5(RPGRIP1L):c.1207A>G (p.Lys403Glu)
NM_015272.5(RPGRIP1L):c.121G>A (p.Ala41Thr)
NM_015272.5(RPGRIP1L):c.1226G>A (p.Arg409Lys)
NM_015272.5(RPGRIP1L):c.1243+6T>C rs751839339
NM_015272.5(RPGRIP1L):c.1244-3A>C
NM_015272.5(RPGRIP1L):c.1247A>G (p.Gln416Arg) rs753413251
NM_015272.5(RPGRIP1L):c.1258C>G (p.Leu420Val) rs1967511576
NM_015272.5(RPGRIP1L):c.1301A>G (p.Gln434Arg)
NM_015272.5(RPGRIP1L):c.1304A>G (p.Lys435Arg)
NM_015272.5(RPGRIP1L):c.130C>T (p.Arg44Cys)
NM_015272.5(RPGRIP1L):c.1310A>G (p.Gln437Arg) rs1227063404
NM_015272.5(RPGRIP1L):c.1311A>C (p.Gln437His)
NM_015272.5(RPGRIP1L):c.1328A>G (p.Lys443Arg)
NM_015272.5(RPGRIP1L):c.1343A>G (p.Tyr448Cys) rs2151164400
NM_015272.5(RPGRIP1L):c.1350G>A (p.Gln450=)
NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser) rs1967458211
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1383A>C (p.Glu461Asp)
NM_015272.5(RPGRIP1L):c.1394T>G (p.Leu465Arg)
NM_015272.5(RPGRIP1L):c.1400A>C (p.Lys467Thr)
NM_015272.5(RPGRIP1L):c.1414C>G (p.Gln472Glu)
NM_015272.5(RPGRIP1L):c.1430T>C (p.Leu477Pro)
NM_015272.5(RPGRIP1L):c.1444A>G (p.Lys482Glu) rs1967376456
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1496A>C (p.Gln499Pro) rs2151156698
NM_015272.5(RPGRIP1L):c.1514C>T (p.Thr505Met)
NM_015272.5(RPGRIP1L):c.151G>A (p.Glu51Lys)
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1537A>G (p.Arg513Gly)
NM_015272.5(RPGRIP1L):c.1583T>A (p.Met528Lys)
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1606A>C (p.Lys536Gln)
NM_015272.5(RPGRIP1L):c.1627G>A (p.Asp543Asn)
NM_015272.5(RPGRIP1L):c.1652A>G (p.Tyr551Cys) rs1307023675
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe) rs1307023675
NM_015272.5(RPGRIP1L):c.1675G>A (p.Ala559Thr)
NM_015272.5(RPGRIP1L):c.1699+4C>G
NM_015272.5(RPGRIP1L):c.1699+5A>C rs865956479
NM_015272.5(RPGRIP1L):c.169T>A (p.Leu57Met) rs1970745367
NM_015272.5(RPGRIP1L):c.1700C>A (p.Ala567Asp)
NM_015272.5(RPGRIP1L):c.1714A>G (p.Ile572Val)
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.172C>A (p.His58Asn) rs2151379355
NM_015272.5(RPGRIP1L):c.1739A>C (p.Lys580Thr)
NM_015272.5(RPGRIP1L):c.173A>G (p.His58Arg)
NM_015272.5(RPGRIP1L):c.1743T>A (p.Phe581Leu) rs1966909934
NM_015272.5(RPGRIP1L):c.175G>C (p.Asp59His)
NM_015272.5(RPGRIP1L):c.1775A>G (p.Asp592Gly)
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.1831A>G (p.Ile611Val)
NM_015272.5(RPGRIP1L):c.1844C>A (p.Thr615Asn)
NM_015272.5(RPGRIP1L):c.1896C>G (p.Phe632Leu)
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
NM_015272.5(RPGRIP1L):c.1919T>G (p.Phe640Cys)
NM_015272.5(RPGRIP1L):c.1925T>C (p.Leu642Pro)
NM_015272.5(RPGRIP1L):c.1955A>G (p.His652Arg)
NM_015272.5(RPGRIP1L):c.196C>A (p.Gln66Lys)
NM_015272.5(RPGRIP1L):c.1972A>G (p.Thr658Ala)
NM_015272.5(RPGRIP1L):c.1991A>G (p.His664Arg)
NM_015272.5(RPGRIP1L):c.1996A>G (p.Asn666Asp)
NM_015272.5(RPGRIP1L):c.200A>G (p.His67Arg) rs763837182
NM_015272.5(RPGRIP1L):c.200A>T (p.His67Leu)
NM_015272.5(RPGRIP1L):c.2012A>G (p.Gln671Arg)
NM_015272.5(RPGRIP1L):c.2014T>C (p.Tyr672His) rs1966881046
NM_015272.5(RPGRIP1L):c.2017A>G (p.Ile673Val) rs2151125534
NM_015272.5(RPGRIP1L):c.2018T>A (p.Ile673Asn)
NM_015272.5(RPGRIP1L):c.2032A>C (p.Ile678Leu) rs958116016
NM_015272.5(RPGRIP1L):c.2032A>G (p.Ile678Val)
NM_015272.5(RPGRIP1L):c.2042A>G (p.Glu681Gly)
NM_015272.5(RPGRIP1L):c.2045T>G (p.Val682Gly)
NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=) rs890062959
NM_015272.5(RPGRIP1L):c.2083_2084delinsAA (p.Ala695Lys)
NM_015272.5(RPGRIP1L):c.2090A>G (p.Gln697Arg) rs1396387199
NM_015272.5(RPGRIP1L):c.2096A>C (p.Lys699Thr)
NM_015272.5(RPGRIP1L):c.2126G>A (p.Arg709Gln)
NM_015272.5(RPGRIP1L):c.2130A>G (p.Ile710Met) rs748143379
NM_015272.5(RPGRIP1L):c.2138C>T (p.Thr713Ile) rs1016477709
NM_015272.5(RPGRIP1L):c.2141C>G (p.Ala714Gly)
NM_015272.5(RPGRIP1L):c.2156C>G (p.Thr719Arg)
NM_015272.5(RPGRIP1L):c.2158A>G (p.Lys720Glu)
NM_015272.5(RPGRIP1L):c.2196G>C (p.Trp732Cys) rs2151102358
NM_015272.5(RPGRIP1L):c.2206A>G (p.Arg736Gly)
NM_015272.5(RPGRIP1L):c.2231G>T (p.Arg744Leu)
NM_015272.5(RPGRIP1L):c.223A>G (p.Ile75Val) rs2151379062
NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys) rs774573573
NM_015272.5(RPGRIP1L):c.2261G>A (p.Gly754Glu) rs1966773695
NM_015272.5(RPGRIP1L):c.2273C>T (p.Ser758Leu)
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del) rs1555602657
NM_015272.5(RPGRIP1L):c.2296A>G (p.Met766Val) rs2151101589
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.230+7A>G rs1970740052
NM_015272.5(RPGRIP1L):c.2303C>T (p.Ser768Leu)
NM_015272.5(RPGRIP1L):c.2304+6C>T
NM_015272.5(RPGRIP1L):c.2305-15del
NM_015272.5(RPGRIP1L):c.2335C>T (p.Leu779Phe)
NM_015272.5(RPGRIP1L):c.2360G>A (p.Gly787Asp)
NM_015272.5(RPGRIP1L):c.2360G>C (p.Gly787Ala) rs996587890
NM_015272.5(RPGRIP1L):c.2380A>G (p.Ile794Val) rs781443815
NM_015272.5(RPGRIP1L):c.2381T>C (p.Ile794Thr) rs2151083626
NM_015272.5(RPGRIP1L):c.2383A>G (p.Thr795Ala) rs1393329540
NM_015272.5(RPGRIP1L):c.2384C>T (p.Thr795Ile)
NM_015272.5(RPGRIP1L):c.2389A>G (p.Arg797Gly)
NM_015272.5(RPGRIP1L):c.2398A>G (p.Asn800Asp) rs752724338
NM_015272.5(RPGRIP1L):c.2404C>G (p.Leu802Val)
NM_015272.5(RPGRIP1L):c.2444T>C (p.Val815Ala)
NM_015272.5(RPGRIP1L):c.2465T>C (p.Phe822Ser)
NM_015272.5(RPGRIP1L):c.2467G>A (p.Ala823Thr) rs1051268898
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.249A>G (p.Ile83Met)
NM_015272.5(RPGRIP1L):c.250C>G (p.Arg84Gly) rs770098954
NM_015272.5(RPGRIP1L):c.2563T>C (p.Tyr855His)
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.256G>A (p.Val86Ile)
NM_015272.5(RPGRIP1L):c.256G>C (p.Val86Leu)
NM_015272.5(RPGRIP1L):c.2603A>G (p.Asp868Gly) rs1966497416
NM_015272.5(RPGRIP1L):c.2609A>G (p.Asp870Gly) rs1966496784
NM_015272.5(RPGRIP1L):c.2615A>G (p.Gln872Arg) rs754997198
NM_015272.5(RPGRIP1L):c.2630T>C (p.Ile877Thr) rs756072167
NM_015272.5(RPGRIP1L):c.2657C>T (p.Ser886Leu)
NM_015272.5(RPGRIP1L):c.2665C>T (p.His889Tyr)
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2726C>G (p.Thr909Ser)
NM_015272.5(RPGRIP1L):c.2729T>C (p.Ile910Thr)
NM_015272.5(RPGRIP1L):c.2743A>C (p.Lys915Gln) rs2151059707
NM_015272.5(RPGRIP1L):c.2765C>T (p.Pro922Leu) rs2151059566
NM_015272.5(RPGRIP1L):c.2767C>T (p.Pro923Ser) rs572508334
NM_015272.5(RPGRIP1L):c.2770A>C (p.Ser924Arg)
NM_015272.5(RPGRIP1L):c.2771G>A (p.Ser924Asn) rs142234650
NM_015272.5(RPGRIP1L):c.2773G>A (p.Gly925Arg) rs2151059471
NM_015272.5(RPGRIP1L):c.2809C>T (p.Arg937Cys)
NM_015272.5(RPGRIP1L):c.2810G>T (p.Arg937Leu)
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2840T>C (p.Leu947Pro)
NM_015272.5(RPGRIP1L):c.2842C>A (p.Pro948Thr) rs1486116698
NM_015272.5(RPGRIP1L):c.2843C>T (p.Pro948Leu) rs561327446
NM_015272.5(RPGRIP1L):c.2852C>T (p.Ser951Phe)
NM_015272.5(RPGRIP1L):c.2857G>A (p.Val953Ile)
NM_015272.5(RPGRIP1L):c.2867T>C (p.Leu956Pro)
NM_015272.5(RPGRIP1L):c.2874+4A>G
NM_015272.5(RPGRIP1L):c.2875-3T>G
NM_015272.5(RPGRIP1L):c.287G>A (p.Gly96Asp)
NM_015272.5(RPGRIP1L):c.2915A>G (p.Asp972Gly)
NM_015272.5(RPGRIP1L):c.2923G>A (p.Val975Ile)
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.2935G>T (p.Asp979Tyr) rs370687136
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2952G>C (p.Gln984His)
NM_015272.5(RPGRIP1L):c.2958+3A>G rs2151056549
NM_015272.5(RPGRIP1L):c.2959-5A>G
NM_015272.5(RPGRIP1L):c.2959G>A (p.Glu987Lys) rs1467277908
NM_015272.5(RPGRIP1L):c.2960A>C (p.Glu987Ala)
NM_015272.5(RPGRIP1L):c.2962A>T (p.Thr988Ser)
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.296C>T (p.Pro99Leu)
NM_015272.5(RPGRIP1L):c.2974C>G (p.Pro992Ala)
NM_015272.5(RPGRIP1L):c.2992A>G (p.Ile998Val)
NM_015272.5(RPGRIP1L):c.3007G>A (p.Glu1003Lys)
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3014T>C (p.Ile1005Thr)
NM_015272.5(RPGRIP1L):c.3027A>T (p.Glu1009Asp) rs2151040118
NM_015272.5(RPGRIP1L):c.3035T>C (p.Met1012Thr)
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3043G>C (p.Val1015Leu)
NM_015272.5(RPGRIP1L):c.3047C>T (p.Pro1016Leu) rs2151040012
NM_015272.5(RPGRIP1L):c.3061G>A (p.Val1021Ile) rs552123467
NM_015272.5(RPGRIP1L):c.3068A>G (p.Gln1023Arg)
NM_015272.5(RPGRIP1L):c.3110T>A (p.Met1037Lys) rs2151036636
NM_015272.5(RPGRIP1L):c.3124G>C (p.Asp1042His)
NM_015272.5(RPGRIP1L):c.3134C>G (p.Ser1045Cys)
NM_015272.5(RPGRIP1L):c.3142T>C (p.Ser1048Pro)
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3175T>C (p.Ser1059Pro)
NM_015272.5(RPGRIP1L):c.3184G>A (p.Asp1062Asn)
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys) rs864622470
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3220+5C>A
NM_015272.5(RPGRIP1L):c.3221-3C>T
NM_015272.5(RPGRIP1L):c.3221-4A>G
NM_015272.5(RPGRIP1L):c.3221T>A (p.Val1074Asp)
NM_015272.5(RPGRIP1L):c.322A>G (p.Met108Val) rs1970437847
NM_015272.5(RPGRIP1L):c.3232A>C (p.Met1078Leu) rs1965842435
NM_015272.5(RPGRIP1L):c.3233T>C (p.Met1078Thr) rs1391765743
NM_015272.5(RPGRIP1L):c.3235T>G (p.Ser1079Ala) rs1295300355
NM_015272.5(RPGRIP1L):c.324G>C (p.Met108Ile)
NM_015272.5(RPGRIP1L):c.3257G>A (p.Cys1086Tyr) rs772351648
NM_015272.5(RPGRIP1L):c.325G>A (p.Glu109Lys)
NM_015272.5(RPGRIP1L):c.3263T>C (p.Ile1088Thr) rs1185071339
NM_015272.5(RPGRIP1L):c.3294+6T>C rs2151029086
NM_015272.5(RPGRIP1L):c.3295-6del
NM_015272.5(RPGRIP1L):c.3295-7G>T
NM_015272.5(RPGRIP1L):c.3295-7del
NM_015272.5(RPGRIP1L):c.3310C>T (p.Pro1104Ser)
NM_015272.5(RPGRIP1L):c.3313G>C (p.Gly1105Arg) rs528501990
NM_015272.5(RPGRIP1L):c.3332C>T (p.Ala1111Val)
NM_015272.5(RPGRIP1L):c.3356G>T (p.Arg1119Leu) rs1207253947
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr) rs866468122
NM_015272.5(RPGRIP1L):c.3412G>A (p.Gly1138Ser) rs2150974674
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn) rs111775292
NM_015272.5(RPGRIP1L):c.3432+4A>G rs1449225904
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3470G>C (p.Ser1157Thr)
NM_015272.5(RPGRIP1L):c.3480T>G (p.Asp1160Glu)
NM_015272.5(RPGRIP1L):c.3493A>G (p.Met1165Val) rs2150964658
NM_015272.5(RPGRIP1L):c.3497A>T (p.Asp1166Val)
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
NM_015272.5(RPGRIP1L):c.3511C>T (p.Arg1171Trp)
NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln)
NM_015272.5(RPGRIP1L):c.3533_3535del (p.Phe1178del) rs1964556741
NM_015272.5(RPGRIP1L):c.3540T>G (p.Ser1180Arg)
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3580A>C (p.Lys1194Gln)
NM_015272.5(RPGRIP1L):c.3580A>G (p.Lys1194Glu)
NM_015272.5(RPGRIP1L):c.3585T>G (p.Ser1195Arg) rs376935464
NM_015272.5(RPGRIP1L):c.3608A>G (p.Tyr1203Cys)
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.3623A>G (p.Tyr1208Cys)
NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr) rs2150938312
NM_015272.5(RPGRIP1L):c.3691C>T (p.Pro1231Ser)
NM_015272.5(RPGRIP1L):c.3702-9C>A
NM_015272.5(RPGRIP1L):c.3765T>G (p.Ile1255Met) rs2150920632
NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys) rs1963628196
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn) rs1445612197
NM_015272.5(RPGRIP1L):c.379G>A (p.Glu127Lys) rs2151352773
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser) rs1963622750
NM_015272.5(RPGRIP1L):c.3829A>G (p.Ile1277Val)
NM_015272.5(RPGRIP1L):c.3835+5G>A rs754798360
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val) rs2150909524
NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)
NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)
NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)
NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)
NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)
NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala) rs1963404223
NM_015272.5(RPGRIP1L):c.431G>A (p.Gly144Asp) rs1970430274
NM_015272.5(RPGRIP1L):c.440A>T (p.Gln147Leu) rs2151352094
NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala) rs1970427633
NM_015272.5(RPGRIP1L):c.467G>A (p.Arg156His)
NM_015272.5(RPGRIP1L):c.467G>T (p.Arg156Leu)
NM_015272.5(RPGRIP1L):c.482G>T (p.Arg161Leu)
NM_015272.5(RPGRIP1L):c.490G>A (p.Ala164Thr)
NM_015272.5(RPGRIP1L):c.503C>T (p.Ala168Val) rs926999229
NM_015272.5(RPGRIP1L):c.505G>C (p.Gly169Arg)
NM_015272.5(RPGRIP1L):c.52_57del (p.Gly18_Leu19del)
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn) rs2151325702
NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)
NM_015272.5(RPGRIP1L):c.556G>C (p.Ala186Pro)
NM_015272.5(RPGRIP1L):c.562A>G (p.Thr188Ala)
NM_015272.5(RPGRIP1L):c.563C>T (p.Thr188Ile)
NM_015272.5(RPGRIP1L):c.590G>C (p.Gly197Ala)
NM_015272.5(RPGRIP1L):c.59A>C (p.Asn20Thr)
NM_015272.5(RPGRIP1L):c.609A>C (p.Glu203Asp)
NM_015272.5(RPGRIP1L):c.638A>G (p.Asn213Ser) rs2151318519
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.682T>A (p.Leu228Met)
NM_015272.5(RPGRIP1L):c.706T>A (p.Leu236Met)
NM_015272.5(RPGRIP1L):c.721A>G (p.Asn241Asp) rs1970023173
NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
NM_015272.5(RPGRIP1L):c.752G>C (p.Arg251Pro) rs767314963
NM_015272.5(RPGRIP1L):c.803T>A (p.Met268Lys)
NM_015272.5(RPGRIP1L):c.805A>G (p.Ile269Val)
NM_015272.5(RPGRIP1L):c.86A>C (p.Glu29Ala)
NM_015272.5(RPGRIP1L):c.874C>T (p.Leu292Phe) rs1969042766
NM_015272.5(RPGRIP1L):c.882+3A>G rs1969042020
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)
NM_015272.5(RPGRIP1L):c.884A>C (p.Lys295Thr) rs2151246140
NM_015272.5(RPGRIP1L):c.890G>A (p.Arg297Lys)
NM_015272.5(RPGRIP1L):c.919A>T (p.Met307Leu)
NM_015272.5(RPGRIP1L):c.929G>A (p.Gly310Glu) rs2151245719
NM_015272.5(RPGRIP1L):c.935A>C (p.Glu312Ala) rs2151245683
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_015272.5(RPGRIP1L):c.961C>T (p.Arg321Cys)
NM_015272.5(RPGRIP1L):c.971G>C (p.Cys324Ser)
NM_015272.5(RPGRIP1L):c.972C>G (p.Cys324Trp)
NM_015272.5(RPGRIP1L):c.980T>G (p.Leu327Arg)
NM_015272.5(RPGRIP1L):c.992T>C (p.Leu331Ser)

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