ClinVar Miner

List of variants in gene RP1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 768
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe) rs147990983 0.00147
NM_006269.2(RP1):c.1187G>A (p.Arg396Gln) rs141279458 0.00138
NM_006269.2(RP1):c.6167G>A (p.Gly2056Asp) rs35327842 0.00135
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.-51A>G rs572206979 0.00090
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.1334G>A (p.Arg445His) rs757110150 0.00058
NM_006269.2(RP1):c.4563C>T (p.Asn1521=) rs150524359 0.00056
NM_006269.2(RP1):c.1568A>G (p.Asn523Ser) rs144309486 0.00052
NM_006269.2(RP1):c.2449A>G (p.Lys817Glu) rs140640774 0.00051
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_006269.2(RP1):c.615+3G>A rs199632605 0.00037
NM_006269.2(RP1):c.698A>G (p.Asp233Gly) rs190484195 0.00036
NM_006269.2(RP1):c.2413A>G (p.Asn805Asp) rs145839872 0.00031
NM_006269.2(RP1):c.4456G>A (p.Gly1486Arg) rs143193537 0.00026
NM_006269.2(RP1):c.6323T>G (p.Ile2108Ser) rs145297510 0.00026
NM_006269.2(RP1):c.1736A>G (p.Asp579Gly) rs144999144 0.00025
NM_006269.2(RP1):c.912G>T (p.Lys304Asn) rs189145468 0.00025
NM_006269.2(RP1):c.652G>A (p.Ala218Thr) rs145691085 0.00024
NM_006269.2(RP1):c.278C>A (p.Thr93Lys) rs139533342 0.00023
NM_006269.2(RP1):c.4799G>A (p.Ser1600Asn) rs144852838 0.00023
NM_006269.2(RP1):c.6338C>A (p.Thr2113Asn) rs137887415 0.00022
NM_006269.2(RP1):c.1183G>A (p.Glu395Lys) rs377463031 0.00019
NM_006269.2(RP1):c.2386G>A (p.Gly796Ser) rs202031905 0.00017
NM_006269.2(RP1):c.3838T>G (p.Phe1280Val) rs200384647 0.00017
NM_006269.2(RP1):c.4397A>T (p.Glu1466Val) rs373083553 0.00017
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.4280A>G (p.Lys1427Arg) rs372198758 0.00016
NM_006269.2(RP1):c.4473A>C (p.Glu1491Asp) rs149597597 0.00016
NM_006269.2(RP1):c.*269A>G rs1276671291 0.00015
NM_006269.2(RP1):c.2450A>G (p.Lys817Arg) rs560123447 0.00015
NM_006269.2(RP1):c.3589A>G (p.Ser1197Gly) rs201446128 0.00014
NM_006269.2(RP1):c.1943A>C (p.Glu648Ala) rs371614106 0.00013
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr) rs201725231 0.00013
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_006269.2(RP1):c.172C>T (p.Arg58Cys) rs553910154 0.00011
NM_006269.2(RP1):c.2455T>G (p.Leu819Val) rs367562684 0.00011
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp) rs555883522 0.00011
NM_006269.2(RP1):c.4861A>G (p.Lys1621Glu) rs139776202 0.00011
NM_006269.2(RP1):c.2016G>T (p.Lys672Asn) rs200252967 0.00010
NM_006269.2(RP1):c.2972A>G (p.Asp991Gly) rs202057087 0.00010
NM_006269.2(RP1):c.2905A>G (p.Met969Val) rs181497543 0.00009
NM_006269.2(RP1):c.3036G>C (p.Leu1012=) rs373971446 0.00009
NM_006269.2(RP1):c.3040G>C (p.Asp1014His) rs200186332 0.00009
NM_006269.2(RP1):c.4193C>G (p.Ser1398Cys) rs769270937 0.00009
NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu) rs201860457 0.00009
NM_006269.2(RP1):c.65C>T (p.Pro22Leu) rs200017983 0.00009
NM_006269.2(RP1):c.160G>A (p.Val54Met) rs148458501 0.00008
NM_006269.2(RP1):c.21T>G (p.Thr7=) rs377126381 0.00008
NM_006269.2(RP1):c.1726G>A (p.Val576Met) rs201008674 0.00007
NM_006269.2(RP1):c.320C>A (p.Ser107Tyr) rs754124724 0.00007
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) rs147384119 0.00007
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly) rs371028735 0.00006
NM_006269.2(RP1):c.2757G>C (p.Trp919Cys) rs746396730 0.00006
NM_006269.2(RP1):c.2794A>G (p.Ile932Val) rs373573589 0.00006
NM_006269.2(RP1):c.3305A>G (p.Gln1102Arg) rs398124219 0.00006
NM_006269.2(RP1):c.3399C>G (p.Leu1133=) rs746723674 0.00006
NM_006269.2(RP1):c.3428A>G (p.Asn1143Ser) rs748097421 0.00006
NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser) rs762338185 0.00006
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys) rs941588545 0.00006
NM_006269.2(RP1):c.4663G>A (p.Gly1555Arg) rs370101107 0.00006
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg) rs113911625 0.00006
NM_006269.2(RP1):c.1180A>G (p.Met394Val) rs763523179 0.00005
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_006269.2(RP1):c.1841A>G (p.His614Arg) rs762549305 0.00005
NM_006269.2(RP1):c.1980T>A (p.Asn660Lys) rs886062990 0.00005
NM_006269.2(RP1):c.281G>A (p.Arg94His) rs373078077 0.00005
NM_006269.2(RP1):c.2895T>A (p.Ser965Arg) rs536567969 0.00005
NM_006269.2(RP1):c.2923A>G (p.Ile975Val) rs202016292 0.00005
NM_006269.2(RP1):c.3200C>T (p.Ala1067Val) rs377706951 0.00005
NM_006269.2(RP1):c.3811A>G (p.Lys1271Glu) rs770305929 0.00005
NM_006269.2(RP1):c.4216A>G (p.Lys1406Glu) rs562213663 0.00005
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) rs200860068 0.00005
NM_006269.2(RP1):c.4831C>A (p.Pro1611Thr) rs201519839 0.00005
NM_006269.2(RP1):c.*78G>T rs551504653 0.00004
NM_006269.2(RP1):c.-37T>C rs769599875 0.00004
NM_006269.2(RP1):c.1136G>T (p.Gly379Val) rs573551979 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006269.2(RP1):c.141A>G (p.Gln47=) rs372249141 0.00004
NM_006269.2(RP1):c.1472G>A (p.Ser491Asn) rs758334212 0.00004
NM_006269.2(RP1):c.1500G>A (p.Met500Ile) rs995188028 0.00004
NM_006269.2(RP1):c.1612A>T (p.Ser538Cys) rs757568473 0.00004
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile) rs762382791 0.00004
NM_006269.2(RP1):c.2742T>G (p.Asn914Lys) rs1167023212 0.00004
NM_006269.2(RP1):c.3155T>C (p.Val1052Ala) rs546212290 0.00004
NM_006269.2(RP1):c.3198G>A (p.Glu1066=) rs759707480 0.00004
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala) rs1043235694 0.00004
NM_006269.2(RP1):c.3374C>A (p.Ser1125Tyr) rs532166235 0.00004
NM_006269.2(RP1):c.3479C>T (p.Thr1160Ile) rs377034289 0.00004
NM_006269.2(RP1):c.3569C>T (p.Thr1190Ile) rs775611663 0.00004
NM_006269.2(RP1):c.3579C>T (p.His1193=) rs777012140 0.00004
NM_006269.2(RP1):c.3848G>T (p.Ser1283Ile) rs374445605 0.00004
NM_006269.2(RP1):c.3874T>C (p.Ser1292Pro) rs776339290 0.00004
NM_006269.2(RP1):c.3943T>C (p.Cys1315Arg) rs372769505 0.00004
NM_006269.2(RP1):c.4699A>G (p.Met1567Val) rs374421129 0.00004
NM_006269.2(RP1):c.6100A>G (p.Met2034Val) rs147632759 0.00004
NM_006269.2(RP1):c.941C>G (p.Pro314Arg) rs1162719061 0.00004
NM_006269.2(RP1):c.2042T>A (p.Ile681Lys) rs966147989 0.00003
NM_006269.2(RP1):c.256C>A (p.Pro86Thr) rs757674289 0.00003
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.2750A>G (p.Gln917Arg) rs1333399850 0.00003
NM_006269.2(RP1):c.3188A>G (p.Gln1063Arg) rs199550930 0.00003
NM_006269.2(RP1):c.3413T>C (p.Leu1138Pro) rs754799075 0.00003
NM_006269.2(RP1):c.3502A>G (p.Lys1168Glu) rs142787091 0.00003
NM_006269.2(RP1):c.3667T>G (p.Cys1223Gly) rs1057179569 0.00003
NM_006269.2(RP1):c.3704T>C (p.Leu1235Ser) rs770380600 0.00003
NM_006269.2(RP1):c.4175A>G (p.Asn1392Ser) rs780518944 0.00003
NM_006269.2(RP1):c.4448T>C (p.Val1483Ala) rs763697787 0.00003
NM_006269.2(RP1):c.4471G>C (p.Glu1491Gln) rs377386628 0.00003
NM_006269.2(RP1):c.4603C>G (p.Pro1535Ala) rs773844065 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser) rs756000109 0.00003
NM_006269.2(RP1):c.662C>T (p.Ala221Val) rs760561079 0.00003
NM_006269.2(RP1):c.1283C>G (p.Ala428Gly) rs762114930 0.00002
NM_006269.2(RP1):c.1439T>C (p.Ile480Thr) rs753472746 0.00002
NM_006269.2(RP1):c.1482C>A (p.Asn494Lys) rs756192112 0.00002
NM_006269.2(RP1):c.148G>C (p.Gly50Arg) rs761646580 0.00002
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly) rs546625124 0.00002
NM_006269.2(RP1):c.164T>A (p.Val55Asp) rs1446992624 0.00002
NM_006269.2(RP1):c.1779G>T (p.Lys593Asn) rs747328453 0.00002
NM_006269.2(RP1):c.1829C>A (p.Ala610Glu) rs371344865 0.00002
NM_006269.2(RP1):c.1990A>G (p.Ile664Val) rs772037478 0.00002
NM_006269.2(RP1):c.2024A>T (p.Lys675Ile) rs755107767 0.00002
NM_006269.2(RP1):c.205A>T (p.Asn69Tyr) rs794727282 0.00002
NM_006269.2(RP1):c.2150C>T (p.Ser717Leu) rs1270635237 0.00002
NM_006269.2(RP1):c.2317C>A (p.Leu773Ile) rs892285778 0.00002
NM_006269.2(RP1):c.2381A>G (p.Glu794Gly) rs905082467 0.00002
NM_006269.2(RP1):c.2521G>A (p.Glu841Lys) rs1472013734 0.00002
NM_006269.2(RP1):c.2714A>C (p.Glu905Ala) rs750374154 0.00002
NM_006269.2(RP1):c.271A>G (p.Ser91Gly) rs1319416151 0.00002
NM_006269.2(RP1):c.2825C>T (p.Thr942Met) rs112323560 0.00002
NM_006269.2(RP1):c.2915A>G (p.Asn972Ser) rs369791590 0.00002
NM_006269.2(RP1):c.2951A>G (p.Asp984Gly) rs200135800 0.00002
NM_006269.2(RP1):c.3100C>G (p.His1034Asp) rs746848660 0.00002
NM_006269.2(RP1):c.3347C>T (p.Pro1116Leu) rs761263114 0.00002
NM_006269.2(RP1):c.3641C>T (p.Thr1214Met) rs368074316 0.00002
NM_006269.2(RP1):c.4022C>G (p.Thr1341Ser) rs927533981 0.00002
NM_006269.2(RP1):c.4025T>C (p.Ile1342Thr) rs201683491 0.00002
NM_006269.2(RP1):c.403G>A (p.Ala135Thr) rs755833719 0.00002
NM_006269.2(RP1):c.40C>G (p.Pro14Ala) rs1342130209 0.00002
NM_006269.2(RP1):c.4157C>T (p.Thr1386Ile) rs199961126 0.00002
NM_006269.2(RP1):c.4205G>T (p.Cys1402Phe) rs774475397 0.00002
NM_006269.2(RP1):c.4307C>T (p.Ser1436Phe) rs376134297 0.00002
NM_006269.2(RP1):c.4781A>G (p.Tyr1594Cys) rs749707126 0.00002
NM_006269.2(RP1):c.6110T>C (p.Leu2037Ser) rs777037136 0.00002
NM_006269.2(RP1):c.6137A>G (p.Asn2046Ser) rs150148595 0.00002
NM_006269.2(RP1):c.6165C>T (p.Ser2055=) rs145661075 0.00002
NM_006269.2(RP1):c.6272T>C (p.Ile2091Thr) rs747154755 0.00002
NM_006269.2(RP1):c.6344T>G (p.Leu2115Ter) rs142315603 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_006269.2(RP1):c.644G>A (p.Ser215Asn) rs759197247 0.00002
NM_006269.2(RP1):c.919T>C (p.Ser307Pro) rs377130833 0.00002
NM_006269.2(RP1):c.*75C>T rs1439625423 0.00001
NM_006269.2(RP1):c.-101G>A rs867287513 0.00001
NM_006269.2(RP1):c.1037C>A (p.Thr346Asn) rs1167725394 0.00001
NM_006269.2(RP1):c.1096G>A (p.Glu366Lys) rs139214330 0.00001
NM_006269.2(RP1):c.1262G>T (p.Ser421Ile) rs771928405 0.00001
NM_006269.2(RP1):c.1307A>G (p.Gln436Arg) rs1435278772 0.00001
NM_006269.2(RP1):c.1333C>T (p.Arg445Cys) rs575855591 0.00001
NM_006269.2(RP1):c.1346C>T (p.Pro449Leu) rs760968123 0.00001
NM_006269.2(RP1):c.1361T>G (p.Leu454Arg) rs781361064 0.00001
NM_006269.2(RP1):c.137C>G (p.Pro46Arg) rs775031968 0.00001
NM_006269.2(RP1):c.1409T>G (p.Val470Gly) rs967778254 0.00001
NM_006269.2(RP1):c.1412C>T (p.Ser471Phe) rs1000614416 0.00001
NM_006269.2(RP1):c.1474G>A (p.Gly492Arg) rs561673450 0.00001
NM_006269.2(RP1):c.1633A>G (p.Ile545Val) rs759656065 0.00001
NM_006269.2(RP1):c.1639G>T (p.Ala547Ser) rs747488488 0.00001
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn) rs1252073669 0.00001
NM_006269.2(RP1):c.1699C>T (p.Pro567Ser) rs1276805786 0.00001
NM_006269.2(RP1):c.1705A>G (p.Thr569Ala) rs1286471672 0.00001
NM_006269.2(RP1):c.1808A>T (p.Asp603Val) rs1437017159 0.00001
NM_006269.2(RP1):c.1892C>A (p.Ala631Asp) rs1299677603 0.00001
NM_006269.2(RP1):c.1954T>C (p.Cys652Arg) rs781515012 0.00001
NM_006269.2(RP1):c.2011A>C (p.Lys671Gln) rs773177329 0.00001
NM_006269.2(RP1):c.2090A>T (p.Asn697Ile) rs745553501 0.00001
NM_006269.2(RP1):c.2350A>C (p.Lys784Gln) rs758046790 0.00001
NM_006269.2(RP1):c.2358C>G (p.Ser786Arg) rs1806043079 0.00001
NM_006269.2(RP1):c.2362G>A (p.Gly788Arg) rs751281116 0.00001
NM_006269.2(RP1):c.2384T>C (p.Ile795Thr) rs772185171 0.00001
NM_006269.2(RP1):c.2446A>G (p.Asn816Asp) rs796921810 0.00001
NM_006269.2(RP1):c.2471A>G (p.Asn824Ser) rs768767284 0.00001
NM_006269.2(RP1):c.2494G>T (p.Asp832Tyr) rs371471873 0.00001
NM_006269.2(RP1):c.2627A>C (p.Lys876Thr) rs760246495 0.00001
NM_006269.2(RP1):c.268C>G (p.His90Asp) rs779243716 0.00001
NM_006269.2(RP1):c.2707T>C (p.Phe903Leu) rs1806058137 0.00001
NM_006269.2(RP1):c.2719A>G (p.Ile907Val) rs1444502867 0.00001
NM_006269.2(RP1):c.2720T>C (p.Ile907Thr) rs756250298 0.00001
NM_006269.2(RP1):c.2734A>G (p.Ile912Val) rs1472113981 0.00001
NM_006269.2(RP1):c.2782A>G (p.Thr928Ala) rs962121976 0.00001
NM_006269.2(RP1):c.2873A>C (p.His958Pro) rs754138300 0.00001
NM_006269.2(RP1):c.2933T>C (p.Ile978Thr) rs759501646 0.00001
NM_006269.2(RP1):c.2959T>C (p.Cys987Arg) rs1265593864 0.00001
NM_006269.2(RP1):c.302G>A (p.Gly101Asp) rs200242872 0.00001
NM_006269.2(RP1):c.3052G>A (p.Val1018Ile) rs766796673 0.00001
NM_006269.2(RP1):c.3083A>G (p.Gln1028Arg) rs1300386362 0.00001
NM_006269.2(RP1):c.3091A>G (p.Ile1031Val) rs749003868 0.00001
NM_006269.2(RP1):c.3142G>A (p.Glu1048Lys) rs1395396475 0.00001
NM_006269.2(RP1):c.314T>C (p.Leu105Pro) rs760751066 0.00001
NM_006269.2(RP1):c.3199G>A (p.Ala1067Thr) rs866421606 0.00001
NM_006269.2(RP1):c.3251C>T (p.Pro1084Leu) rs1431000310 0.00001
NM_006269.2(RP1):c.3270A>G (p.Gln1090=) rs1806082582 0.00001
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg) rs1245809381 0.00001
NM_006269.2(RP1):c.3341G>A (p.Gly1114Asp) rs759707324 0.00001
NM_006269.2(RP1):c.3346C>T (p.Pro1116Ser) rs775652747 0.00001
NM_006269.2(RP1):c.3456G>A (p.Lys1152=) rs886062992 0.00001
NM_006269.2(RP1):c.3509T>C (p.Ile1170Thr) rs1237261610 0.00001
NM_006269.2(RP1):c.3635G>T (p.Cys1212Phe) rs752435173 0.00001
NM_006269.2(RP1):c.367C>T (p.Arg123Cys) rs769522856 0.00001
NM_006269.2(RP1):c.3694A>G (p.Ile1232Val) rs368788385 0.00001
NM_006269.2(RP1):c.3968A>G (p.Tyr1323Cys) rs754606635 0.00001
NM_006269.2(RP1):c.4000G>A (p.Val1334Ile) rs568312011 0.00001
NM_006269.2(RP1):c.402C>G (p.Ser134Arg) rs921415953 0.00001
NM_006269.2(RP1):c.404C>T (p.Ala135Val) rs777510553 0.00001
NM_006269.2(RP1):c.407A>C (p.His136Pro) rs1322496871 0.00001
NM_006269.2(RP1):c.4232A>G (p.Asp1411Gly) rs1481855221 0.00001
NM_006269.2(RP1):c.4295A>G (p.Asn1432Ser) rs374207818 0.00001
NM_006269.2(RP1):c.4328G>A (p.Arg1443Gln) rs759930573 0.00001
NM_006269.2(RP1):c.4352T>G (p.Ile1451Arg) rs369927538 0.00001
NM_006269.2(RP1):c.4372A>C (p.Ser1458Arg) rs749367692 0.00001
NM_006269.2(RP1):c.4393T>C (p.Leu1465=) rs769786870 0.00001
NM_006269.2(RP1):c.4421A>G (p.His1474Arg) rs1193243179 0.00001
NM_006269.2(RP1):c.4432A>G (p.Ile1478Val) rs568838422 0.00001
NM_006269.2(RP1):c.4536G>C (p.Lys1512Asn) rs752606944 0.00001
NM_006269.2(RP1):c.4633A>G (p.Lys1545Glu) rs767994258 0.00001
NM_006269.2(RP1):c.4676T>C (p.Met1559Thr) rs556815489 0.00001
NM_006269.2(RP1):c.4697C>T (p.Thr1566Ile) rs775203481 0.00001
NM_006269.2(RP1):c.4742A>T (p.Lys1581Ile) rs766323335 0.00001
NM_006269.2(RP1):c.4747A>G (p.Ile1583Val) rs755186117 0.00001
NM_006269.2(RP1):c.4779C>G (p.Asp1593Glu) rs1364825857 0.00001
NM_006269.2(RP1):c.4780T>C (p.Tyr1594His) rs1020163542 0.00001
NM_006269.2(RP1):c.4835A>G (p.Asn1612Ser) rs372411580 0.00001
NM_006269.2(RP1):c.4853C>T (p.Thr1618Ile) rs375156216 0.00001
NM_006269.2(RP1):c.50C>A (p.Ser17Tyr) rs751706452 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006269.2(RP1):c.541G>C (p.Glu181Gln) rs764465585 0.00001
NM_006269.2(RP1):c.598G>C (p.Ala200Pro) rs757348446 0.00001
NM_006269.2(RP1):c.611G>A (p.Arg204Lys) rs1312475126 0.00001
NM_006269.2(RP1):c.6127G>T (p.Val2043Phe) rs1315681507 0.00001
NM_006269.2(RP1):c.6286T>A (p.Phe2096Ile) rs773570888 0.00001
NM_006269.2(RP1):c.715C>G (p.Leu239Val) rs755182172 0.00001
NM_006269.2(RP1):c.73C>T (p.Arg25Cys) rs778021701 0.00001
NM_006269.2(RP1):c.74G>A (p.Arg25His) rs886062989 0.00001
NM_006269.2(RP1):c.806C>T (p.Ser269Leu) rs1488188331 0.00001
NM_006269.2(RP1):c.809G>C (p.Ser270Thr) rs746650875 0.00001
NM_006269.2(RP1):c.820C>A (p.Gln274Lys) rs776541829 0.00001
NM_006269.2(RP1):c.871G>C (p.Asp291His) rs767490081 0.00001
NM_006269.2(RP1):c.991A>G (p.Met331Val) rs370586234 0.00001
NM_001375654.1(RP1):c.3363G>A (p.Trp1121Ter)
NM_001375654.1(RP1):c.3750G>T (p.Glu1250Asp)
NM_006269.2(RP1):c.*179_*181del rs140712625
NM_006269.2(RP1):c.*261dup rs10654889
NM_006269.2(RP1):c.-12-12T>C rs886062988
NM_006269.2(RP1):c.1007A>C (p.Lys336Thr)
NM_006269.2(RP1):c.1018A>G (p.Arg340Gly)
NM_006269.2(RP1):c.1019G>C (p.Arg340Thr)
NM_006269.2(RP1):c.103G>T (p.Ala35Ser)
NM_006269.2(RP1):c.104C>T (p.Ala35Val) rs1805847793
NM_006269.2(RP1):c.1055C>T (p.Thr352Ile)
NM_006269.2(RP1):c.1070G>A (p.Gly357Asp) rs1805986824
NM_006269.2(RP1):c.1078A>C (p.Asn360His)
NM_006269.2(RP1):c.1083TGA[1] (p.Asp362del) rs772687396
NM_006269.2(RP1):c.1084G>A (p.Asp362Asn)
NM_006269.2(RP1):c.1094G>A (p.Ser365Asn) rs781052040
NM_006269.2(RP1):c.1102A>G (p.Ser368Gly)
NM_006269.2(RP1):c.1112G>T (p.Gly371Val)
NM_006269.2(RP1):c.1123A>G (p.Ser375Gly) rs1805989264
NM_006269.2(RP1):c.1127G>A (p.Arg376Gln) rs1166678265
NM_006269.2(RP1):c.1138T>A (p.Leu380Ile)
NM_006269.2(RP1):c.1166C>A (p.Ala389Glu) rs2129315970
NM_006269.2(RP1):c.1172T>A (p.Val391Glu)
NM_006269.2(RP1):c.1180A>C (p.Met394Leu)
NM_006269.2(RP1):c.1180A>T (p.Met394Leu) rs763523179
NM_006269.2(RP1):c.1185G>C (p.Glu395Asp) rs1260364554
NM_006269.2(RP1):c.1192A>G (p.Ser398Gly)
NM_006269.2(RP1):c.1193G>A (p.Ser398Asn)
NM_006269.2(RP1):c.1204G>A (p.Gly402Ser)
NM_006269.2(RP1):c.1205G>A (p.Gly402Asp)
NM_006269.2(RP1):c.1213G>T (p.Ala405Ser)
NM_006269.2(RP1):c.1224A>G (p.Ile408Met) rs2129316000
NM_006269.2(RP1):c.1240G>T (p.Asp414Tyr)
NM_006269.2(RP1):c.1241A>G (p.Asp414Gly)
NM_006269.2(RP1):c.1243C>G (p.Gln415Glu)
NM_006269.2(RP1):c.124A>C (p.Lys42Gln) rs1482202931
NM_006269.2(RP1):c.1261A>G (p.Ser421Gly) rs1440127138
NM_006269.2(RP1):c.1261A>T (p.Ser421Cys) rs1440127138
NM_006269.2(RP1):c.1265C>T (p.Ser422Phe) rs1585561971
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_006269.2(RP1):c.126G>C (p.Lys42Asn) rs1161761797
NM_006269.2(RP1):c.1273T>C (p.Trp425Arg)
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr) rs1331133343
NM_006269.2(RP1):c.129C>T (p.Ser43=)
NM_006269.2(RP1):c.1309G>A (p.Gly437Arg)
NM_006269.2(RP1):c.1313C>T (p.Thr438Ile) rs1451687014
NM_006269.2(RP1):c.1329G>C (p.Lys443Asn)
NM_006269.2(RP1):c.1344G>T (p.Arg448Ser) rs2129316057
NM_006269.2(RP1):c.1354C>T (p.Pro452Ser)
NM_006269.2(RP1):c.1367G>A (p.Arg456Lys)
NM_006269.2(RP1):c.1375C>A (p.Gln459Lys) rs901533341
NM_006269.2(RP1):c.1376A>G (p.Gln459Arg)
NM_006269.2(RP1):c.137C>A (p.Pro46His) rs775031968
NM_006269.2(RP1):c.1380G>T (p.Lys460Asn)
NM_006269.2(RP1):c.1391T>C (p.Ile464Thr)
NM_006269.2(RP1):c.1402A>T (p.Thr468Ser) rs1185602873
NM_006269.2(RP1):c.1409T>C (p.Val470Ala)
NM_006269.2(RP1):c.1414G>A (p.Glu472Lys) rs1806003101
NM_006269.2(RP1):c.1423G>A (p.Val475Ile) rs1806003464
NM_006269.2(RP1):c.1423G>C (p.Val475Leu) rs1806003464
NM_006269.2(RP1):c.1426C>A (p.Gln476Lys)
NM_006269.2(RP1):c.1435A>G (p.Met479Val) rs760158770
NM_006269.2(RP1):c.1446G>C (p.Gln482His)
NM_006269.2(RP1):c.1457G>A (p.Ser486Asn)
NM_006269.2(RP1):c.145G>A (p.Gly49Ser) rs374931762
NM_006269.2(RP1):c.1483A>C (p.Lys495Gln)
NM_006269.2(RP1):c.1489G>A (p.Glu497Lys)
NM_006269.2(RP1):c.1492T>G (p.Tyr498Asp) rs2129316140
NM_006269.2(RP1):c.1496A>C (p.His499Pro)
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro) rs530033470
NM_006269.2(RP1):c.1510T>G (p.Ser504Ala) rs530033470
NM_006269.2(RP1):c.1514G>A (p.Cys505Tyr)
NM_006269.2(RP1):c.1514G>T (p.Cys505Phe)
NM_006269.2(RP1):c.151G>C (p.Val51Leu)
NM_006269.2(RP1):c.1523T>C (p.Met508Thr)
NM_006269.2(RP1):c.1524G>A (p.Met508Ile)
NM_006269.2(RP1):c.1558A>G (p.Ile520Val)
NM_006269.2(RP1):c.155G>A (p.Arg52Lys)
NM_006269.2(RP1):c.1564A>G (p.Asn522Asp)
NM_006269.2(RP1):c.1566C>A (p.Asn522Lys)
NM_006269.2(RP1):c.1566C>G (p.Asn522Lys)
NM_006269.2(RP1):c.1601A>G (p.Lys534Arg) rs2129316192
NM_006269.2(RP1):c.1612A>C (p.Ser538Arg) rs757568473
NM_006269.2(RP1):c.1612A>G (p.Ser538Gly) rs757568473
NM_006269.2(RP1):c.1618C>T (p.Leu540Phe) rs1806012719
NM_006269.2(RP1):c.1625C>T (p.Ser542Leu) rs779334655
NM_006269.2(RP1):c.1643G>T (p.Gly548Val) rs1281074076
NM_006269.2(RP1):c.1645G>T (p.Val549Phe) rs1806014057
NM_006269.2(RP1):c.1651G>C (p.Glu551Gln)
NM_006269.2(RP1):c.1669A>G (p.Met557Val)
NM_006269.2(RP1):c.166A>C (p.Asn56His) rs2129314142
NM_006269.2(RP1):c.1670T>C (p.Met557Thr)
NM_006269.2(RP1):c.1680G>A (p.Met560Ile)
NM_006269.2(RP1):c.1706C>T (p.Thr569Ile) rs139471370
NM_006269.2(RP1):c.173G>A (p.Arg58His)
NM_006269.2(RP1):c.175T>G (p.Ser59Ala) rs2129314158
NM_006269.2(RP1):c.1762A>G (p.Asn588Asp) rs2129316289
NM_006269.2(RP1):c.1771G>C (p.Gly591Arg) rs1441664225
NM_006269.2(RP1):c.1805A>G (p.Asn602Ser) rs1229978294
NM_006269.2(RP1):c.1808A>G (p.Asp603Gly)
NM_006269.2(RP1):c.1840C>T (p.His614Tyr)
NM_006269.2(RP1):c.1883A>G (p.Glu628Gly)
NM_006269.2(RP1):c.1888C>G (p.Pro630Ala)
NM_006269.2(RP1):c.188T>C (p.Phe63Ser) rs369919266
NM_006269.2(RP1):c.190G>A (p.Asp64Asn)
NM_006269.2(RP1):c.1931G>C (p.Arg644Thr)
NM_006269.2(RP1):c.1934T>C (p.Leu645Pro)
NM_006269.2(RP1):c.1948G>T (p.Ala650Ser) rs1806027730
NM_006269.2(RP1):c.1972C>T (p.Pro658Ser)
NM_006269.2(RP1):c.1978A>C (p.Asn660His)
NM_006269.2(RP1):c.1989G>T (p.Lys663Asn) rs372551375
NM_006269.2(RP1):c.199C>A (p.Leu67Met) rs2129314171
NM_006269.2(RP1):c.2002G>C (p.Val668Leu) rs1806029936
NM_006269.2(RP1):c.2006C>A (p.Ala669Asp)
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu) rs766341403
NM_006269.2(RP1):c.2024A>G (p.Lys675Arg) rs755107767
NM_006269.2(RP1):c.2025A>T (p.Lys675Asn) rs908032972
NM_006269.2(RP1):c.2027C>G (p.Ser676Cys) rs767901469
NM_006269.2(RP1):c.2030G>A (p.Arg677Gln) rs940904438
NM_006269.2(RP1):c.2041A>G (p.Ile681Val)
NM_006269.2(RP1):c.2047T>A (p.Ser683Thr) rs2129316399
NM_006269.2(RP1):c.2057A>G (p.Gln686Arg) rs1563330427
NM_006269.2(RP1):c.2063G>T (p.Gly688Val) rs778260802
NM_006269.2(RP1):c.206A>G (p.Asn69Ser)
NM_006269.2(RP1):c.2071G>T (p.Ala691Ser) rs2129316411
NM_006269.2(RP1):c.2087T>A (p.Leu696His) rs1467620845
NM_006269.2(RP1):c.2102G>A (p.Arg701Lys)
NM_006269.2(RP1):c.210G>T (p.Leu70Phe) rs1805851925
NM_006269.2(RP1):c.2120G>A (p.Arg707Lys) rs2129316439
NM_006269.2(RP1):c.2138T>C (p.Ile713Thr) rs2129316444
NM_006269.2(RP1):c.2156G>C (p.Ser719Thr)
NM_006269.2(RP1):c.2170G>A (p.Gly724Arg)
NM_006269.2(RP1):c.2184G>C (p.Glu728Asp) rs2129316474
NM_006269.2(RP1):c.2207C>T (p.Thr736Ile)
NM_006269.2(RP1):c.2209G>C (p.Val737Leu)
NM_006269.2(RP1):c.220G>A (p.Val74Met)
NM_006269.2(RP1):c.2210T>C (p.Val737Ala) rs2129316489
NM_006269.2(RP1):c.2232T>G (p.Cys744Trp) rs1806037949
NM_006269.2(RP1):c.2234C>T (p.Ser745Phe) rs1348070550
NM_006269.2(RP1):c.2239A>G (p.Ser747Gly) rs1806038181
NM_006269.2(RP1):c.2247C>G (p.Leu749=) rs1330376739
NM_006269.2(RP1):c.2252C>T (p.Ser751Phe)
NM_006269.2(RP1):c.2273A>G (p.His758Arg)
NM_006269.2(RP1):c.2281A>C (p.Lys761Gln)
NM_006269.2(RP1):c.2293A>C (p.Thr765Pro)
NM_006269.2(RP1):c.2296C>A (p.Gln766Lys)
NM_006269.2(RP1):c.2303C>T (p.Ser768Phe) rs1162608680
NM_006269.2(RP1):c.2307G>C (p.Lys769Asn) rs2129316544
NM_006269.2(RP1):c.2314G>C (p.Gly772Arg) rs1806040688
NM_006269.2(RP1):c.2338A>G (p.Arg780Gly)
NM_006269.2(RP1):c.2342C>T (p.Ser781Leu)
NM_006269.2(RP1):c.2351_2356del (p.Lys784_Ile785del) rs2129316576
NM_006269.2(RP1):c.2356A>G (p.Ser786Gly) rs2129316579
NM_006269.2(RP1):c.2363G>A (p.Gly788Glu)
NM_006269.2(RP1):c.2378G>A (p.Arg793Lys)
NM_006269.2(RP1):c.2397T>G (p.Asp799Glu) rs762140861
NM_006269.2(RP1):c.23G>T (p.Gly8Val)
NM_006269.2(RP1):c.2412C>A (p.His804Gln)
NM_006269.2(RP1):c.2432A>G (p.Lys811Arg) rs374965881
NM_006269.2(RP1):c.2437A>T (p.Thr813Ser) rs1311652743
NM_006269.2(RP1):c.2453G>T (p.Ser818Ile) rs2129316643
NM_006269.2(RP1):c.2473_2474delinsTA (p.Ile825Tyr)
NM_006269.2(RP1):c.2497T>C (p.Phe833Leu)
NM_006269.2(RP1):c.2507C>A (p.Pro836Gln) rs755745244
NM_006269.2(RP1):c.2507C>T (p.Pro836Leu)
NM_006269.2(RP1):c.2524G>A (p.Val842Met) rs886062991
NM_006269.2(RP1):c.2531C>A (p.Ser844Tyr)
NM_006269.2(RP1):c.2531C>T (p.Ser844Phe) rs1806051320
NM_006269.2(RP1):c.2543G>A (p.Arg848Lys) rs1806051597
NM_006269.2(RP1):c.2545G>A (p.Gly849Arg) rs1806051809
NM_006269.2(RP1):c.2593A>T (p.Thr865Ser) rs2129316709
NM_006269.2(RP1):c.2596T>G (p.Leu866Val)
NM_006269.2(RP1):c.2599A>C (p.Lys867Gln)
NM_006269.2(RP1):c.2600A>G (p.Lys867Arg) rs2129316715
NM_006269.2(RP1):c.2608A>C (p.Lys870Gln)
NM_006269.2(RP1):c.260G>C (p.Arg87Pro)
NM_006269.2(RP1):c.2613A>T (p.Lys871Asn)
NM_006269.2(RP1):c.2624A>G (p.Asp875Gly)
NM_006269.2(RP1):c.262G>C (p.Gly88Arg)
NM_006269.2(RP1):c.2635G>C (p.Ala879Pro)
NM_006269.2(RP1):c.2642C>T (p.Ala881Val)
NM_006269.2(RP1):c.2660A>G (p.His887Arg) rs1375301055
NM_006269.2(RP1):c.2660A>T (p.His887Leu)
NM_006269.2(RP1):c.2666C>T (p.Thr889Ile)
NM_006269.2(RP1):c.2704G>A (p.Asp902Asn)
NM_006269.2(RP1):c.2716G>C (p.Ala906Pro)
NM_006269.2(RP1):c.2716G>T (p.Ala906Ser)
NM_006269.2(RP1):c.2748A>G (p.Ile916Met) rs1806060299
NM_006269.2(RP1):c.2756G>T (p.Trp919Leu)
NM_006269.2(RP1):c.2757G>T (p.Trp919Cys) rs746396730
NM_006269.2(RP1):c.2759T>G (p.Leu920Trp) rs1806061278
NM_006269.2(RP1):c.2766C>A (p.Asn922Lys)
NM_006269.2(RP1):c.2769A>G (p.Ile923Met) rs1064796204
NM_006269.2(RP1):c.2773C>A (p.Pro925Thr) rs1806061663
NM_006269.2(RP1):c.2792C>G (p.Pro931Arg)
NM_006269.2(RP1):c.284T>C (p.Leu95Pro)
NM_006269.2(RP1):c.2873A>G (p.His958Arg)
NM_006269.2(RP1):c.2876C>A (p.Thr959Lys)
NM_006269.2(RP1):c.2890A>G (p.Ile964Val)
NM_006269.2(RP1):c.2895T>G (p.Ser965Arg) rs536567969
NM_006269.2(RP1):c.289G>A (p.Glu97Lys)
NM_006269.2(RP1):c.2905A>T (p.Met969Leu)
NM_006269.2(RP1):c.2925A>G (p.Ile975Met)
NM_006269.2(RP1):c.292C>G (p.Leu98Val) rs1805856546
NM_006269.2(RP1):c.2933T>A (p.Ile978Asn)
NM_006269.2(RP1):c.2947G>A (p.Gly983Arg)
NM_006269.2(RP1):c.294_302del (p.Asp100_Glu102del) rs2129314243
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
NM_006269.2(RP1):c.2963A>C (p.Lys988Thr)
NM_006269.2(RP1):c.3008A>G (p.Asp1003Gly) rs1806073071
NM_006269.2(RP1):c.3014A>G (p.His1005Arg)
NM_006269.2(RP1):c.3020C>A (p.Thr1007Lys)
NM_006269.2(RP1):c.3034C>T (p.Leu1012=) rs1371672240
NM_006269.2(RP1):c.3035T>G (p.Leu1012Arg) rs1806073976
NM_006269.2(RP1):c.3042T>C (p.Asp1014=)
NM_006269.2(RP1):c.3047A>G (p.Tyr1016Cys)
NM_006269.2(RP1):c.304G>A (p.Glu102Lys)
NM_006269.2(RP1):c.3056C>A (p.Pro1019His)
NM_006269.2(RP1):c.305A>C (p.Glu102Ala)
NM_006269.2(RP1):c.305A>T (p.Glu102Val)
NM_006269.2(RP1):c.3101A>G (p.His1034Arg) rs148296108
NM_006269.2(RP1):c.310T>C (p.Tyr104His) rs1805857839
NM_006269.2(RP1):c.3116A>G (p.His1039Arg) rs141811318
NM_006269.2(RP1):c.3119T>C (p.Ile1040Thr) rs1251985216
NM_006269.2(RP1):c.3161A>C (p.Gln1054Pro) rs1806079803
NM_006269.2(RP1):c.316T>C (p.Cys106Arg) rs1805858355
NM_006269.2(RP1):c.3185G>T (p.Arg1062Met) rs2129317028
NM_006269.2(RP1):c.3193G>T (p.Val1065Leu)
NM_006269.2(RP1):c.3215A>G (p.Asp1072Gly)
NM_006269.2(RP1):c.3215A>T (p.Asp1072Val)
NM_006269.2(RP1):c.3221T>C (p.Ile1074Thr)
NM_006269.2(RP1):c.3227A>G (p.Glu1076Gly) rs1233367368
NM_006269.2(RP1):c.3236C>T (p.Pro1079Leu)
NM_006269.2(RP1):c.3238A>G (p.Lys1080Glu)
NM_006269.2(RP1):c.324C>G (p.His108Gln) rs141074157
NM_006269.2(RP1):c.3269A>G (p.Gln1090Arg)
NM_006269.2(RP1):c.328A>G (p.Arg110Gly) rs1805859214
NM_006269.2(RP1):c.3295C>G (p.His1099Asp) rs1806083205
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
NM_006269.2(RP1):c.3316G>T (p.Val1106Phe)
NM_006269.2(RP1):c.3317T>A (p.Val1106Asp) rs1043235694
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) rs939932729
NM_006269.2(RP1):c.3322A>G (p.Met1108Val)
NM_006269.2(RP1):c.3325C>T (p.Pro1109Ser)
NM_006269.2(RP1):c.3328G>C (p.Gly1110Arg)
NM_006269.2(RP1):c.3353A>G (p.His1118Arg) rs1159155135
NM_006269.2(RP1):c.3357T>G (p.Ser1119=) rs1806085195
NM_006269.2(RP1):c.3377C>T (p.Thr1126Ile)
NM_006269.2(RP1):c.3397C>A (p.Leu1133Ile)
NM_006269.2(RP1):c.3398T>G (p.Leu1133Arg)
NM_006269.2(RP1):c.3419G>A (p.Gly1140Glu) rs1025535519
NM_006269.2(RP1):c.3449C>G (p.Ala1150Gly) rs1007629051
NM_006269.2(RP1):c.3451C>T (p.His1151Tyr) rs774378003
NM_006269.2(RP1):c.3454A>C (p.Lys1152Gln)
NM_006269.2(RP1):c.3461C>T (p.Thr1154Ile)
NM_006269.2(RP1):c.346G>T (p.Asp116Tyr) rs2129314273
NM_006269.2(RP1):c.3472T>G (p.Ser1158Ala) rs1806093923
NM_006269.2(RP1):c.3485C>G (p.Ala1162Gly)
NM_006269.2(RP1):c.3515T>C (p.Ile1172Thr)
NM_006269.2(RP1):c.3544G>A (p.Ala1182Thr)
NM_006269.2(RP1):c.354C>G (p.Asp118Glu)
NM_006269.2(RP1):c.35T>C (p.Ile12Thr)
NM_006269.2(RP1):c.3601C>A (p.Gln1201Lys) rs2129317202
NM_006269.2(RP1):c.3605A>T (p.Asp1202Val) rs1243903242
NM_006269.2(RP1):c.3607A>G (p.Met1203Val)
NM_006269.2(RP1):c.3608T>A (p.Met1203Lys) rs1171900860
NM_006269.2(RP1):c.3608T>C (p.Met1203Thr) rs1171900860
NM_006269.2(RP1):c.3609G>A (p.Met1203Ile)
NM_006269.2(RP1):c.3610G>A (p.Val1204Ile) rs1806099311
NM_006269.2(RP1):c.3625T>C (p.Ser1209Pro) rs1806099628
NM_006269.2(RP1):c.3631A>G (p.Asn1211Asp)
NM_006269.2(RP1):c.3640A>T (p.Thr1214Ser)
NM_006269.2(RP1):c.3649A>G (p.Ile1217Val) rs1043368323
NM_006269.2(RP1):c.3656G>A (p.Ser1219Asn)
NM_006269.2(RP1):c.365G>C (p.Arg122Pro)
NM_006269.2(RP1):c.3667T>C (p.Cys1223Arg)
NM_006269.2(RP1):c.3670A>G (p.Ser1224Gly)
NM_006269.2(RP1):c.3700T>A (p.Ser1234Thr) rs552178472
NM_006269.2(RP1):c.3724A>G (p.Ser1242Gly)
NM_006269.2(RP1):c.373C>G (p.Arg125Gly) rs770787145
NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)
NM_006269.2(RP1):c.3756G>T (p.Leu1252Phe)
NM_006269.2(RP1):c.376C>A (p.Pro126Thr) rs2129314310
NM_006269.2(RP1):c.3788C>T (p.Thr1263Ile)
NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln) rs1806109030
NM_006269.2(RP1):c.3800C>A (p.Ala1267Asp)
NM_006269.2(RP1):c.3806C>T (p.Ser1269Phe) rs1232195089
NM_006269.2(RP1):c.3811A>C (p.Lys1271Gln) rs770305929
NM_006269.2(RP1):c.3816G>T (p.Glu1272Asp)
NM_006269.2(RP1):c.381G>T (p.Trp127Cys)
NM_006269.2(RP1):c.3827C>T (p.Pro1276Leu) rs1806110455
NM_006269.2(RP1):c.3830G>A (p.Ser1277Asn)
NM_006269.2(RP1):c.3870G>T (p.Gln1290His) rs886062993
NM_006269.2(RP1):c.3884A>T (p.Lys1295Met)
NM_006269.2(RP1):c.3890G>A (p.Cys1297Tyr)
NM_006269.2(RP1):c.389G>T (p.Ser130Ile)
NM_006269.2(RP1):c.3913C>T (p.Leu1305Phe) rs753000004
NM_006269.2(RP1):c.392G>A (p.Arg131Gln)
NM_006269.2(RP1):c.392G>C (p.Arg131Pro) rs752150870
NM_006269.2(RP1):c.392G>T (p.Arg131Leu) rs752150870
NM_006269.2(RP1):c.3934G>A (p.Asp1312Asn)
NM_006269.2(RP1):c.3944G>A (p.Cys1315Tyr) rs2129317379
NM_006269.2(RP1):c.3944G>T (p.Cys1315Phe)
NM_006269.2(RP1):c.3946G>A (p.Ala1316Thr)
NM_006269.2(RP1):c.3946G>T (p.Ala1316Ser)
NM_006269.2(RP1):c.3946_3947delinsTT (p.Ala1316Phe) rs2129317380
NM_006269.2(RP1):c.3947C>T (p.Ala1316Val)
NM_006269.2(RP1):c.3956A>G (p.Glu1319Gly)
NM_006269.2(RP1):c.3985A>G (p.Ile1329Val)
NM_006269.2(RP1):c.3986T>A (p.Ile1329Asn) rs1806116082
NM_006269.2(RP1):c.4006G>A (p.Val1336Ile)
NM_006269.2(RP1):c.4013T>A (p.Val1338Asp) rs746414248
NM_006269.2(RP1):c.4013T>G (p.Val1338Gly) rs746414248
NM_006269.2(RP1):c.406C>T (p.His136Tyr)
NM_006269.2(RP1):c.4081G>A (p.Glu1361Lys)
NM_006269.2(RP1):c.408C>G (p.His136Gln) rs770826448
NM_006269.2(RP1):c.4094G>T (p.Gly1365Val)
NM_006269.2(RP1):c.4096G>C (p.Asp1366His)
NM_006269.2(RP1):c.4097A>G (p.Asp1366Gly)
NM_006269.2(RP1):c.4107G>C (p.Gln1369His)
NM_006269.2(RP1):c.4109A>T (p.Lys1370Ile) rs1806122778
NM_006269.2(RP1):c.4111G>T (p.Asp1371Tyr) rs1345041355
NM_006269.2(RP1):c.4112A>T (p.Asp1371Val) rs1806122988
NM_006269.2(RP1):c.4130A>G (p.Asp1377Gly)
NM_006269.2(RP1):c.4131C>G (p.Asp1377Glu)
NM_006269.2(RP1):c.4132C>T (p.Pro1378Ser) rs761897407
NM_006269.2(RP1):c.4133C>T (p.Pro1378Leu)
NM_006269.2(RP1):c.4136A>C (p.Glu1379Ala)
NM_006269.2(RP1):c.413C>T (p.Pro138Leu)
NM_006269.2(RP1):c.4158A>G (p.Thr1386=)
NM_006269.2(RP1):c.4178T>C (p.Val1393Ala) rs747840454
NM_006269.2(RP1):c.418C>T (p.His140Tyr) rs2129314357
NM_006269.2(RP1):c.4222G>A (p.Ala1408Thr) rs1806128798
NM_006269.2(RP1):c.4226A>T (p.Glu1409Val)
NM_006269.2(RP1):c.4231G>T (p.Asp1411Tyr) rs1806129380
NM_006269.2(RP1):c.4239A>C (p.Lys1413Asn)
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)
NM_006269.2(RP1):c.424G>A (p.Val142Ile)
NM_006269.2(RP1):c.424G>C (p.Val142Leu) rs367600337
NM_006269.2(RP1):c.4253A>C (p.Asp1418Ala)
NM_006269.2(RP1):c.425T>A (p.Val142Glu) rs2129314375
NM_006269.2(RP1):c.4262A>C (p.Glu1421Ala)
NM_006269.2(RP1):c.4267T>A (p.Cys1423Ser)
NM_006269.2(RP1):c.4268G>T (p.Cys1423Phe)
NM_006269.2(RP1):c.4274T>C (p.Leu1425Pro)
NM_006269.2(RP1):c.4279A>G (p.Lys1427Glu) rs1806131259
NM_006269.2(RP1):c.4286A>G (p.Gln1429Arg)
NM_006269.2(RP1):c.4303A>G (p.Thr1435Ala)
NM_006269.2(RP1):c.430G>A (p.Val144Ile) rs752270105
NM_006269.2(RP1):c.4314T>A (p.Asp1438Glu) rs1175357628
NM_006269.2(RP1):c.4316T>C (p.Met1439Thr) rs1806133533
NM_006269.2(RP1):c.4337A>G (p.Glu1446Gly)
NM_006269.2(RP1):c.434C>T (p.Ala145Val)
NM_006269.2(RP1):c.436G>C (p.Ala146Pro) rs1805867883
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly) rs1315126444
NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile) rs758211043
NM_006269.2(RP1):c.4384A>G (p.Ile1462Val)
NM_006269.2(RP1):c.4406A>G (p.Glu1469Gly) rs2129317611
NM_006269.2(RP1):c.440C>T (p.Pro147Leu)
NM_006269.2(RP1):c.4416A>T (p.Glu1472Asp) rs2129317614
NM_006269.2(RP1):c.4419C>A (p.Asn1473Lys)
NM_006269.2(RP1):c.4424A>G (p.Asp1475Gly) rs1806137866
NM_006269.2(RP1):c.4427C>T (p.Thr1476Ile)
NM_006269.2(RP1):c.443G>A (p.Gly148Asp) rs866545331
NM_006269.2(RP1):c.4459G>C (p.Glu1487Gln)
NM_006269.2(RP1):c.445A>C (p.Met149Leu) rs778788543
NM_006269.2(RP1):c.445A>G (p.Met149Val) rs778788543
NM_006269.2(RP1):c.4467C>T (p.Ala1489=) rs794727639
NM_006269.2(RP1):c.447G>A (p.Met149Ile)
NM_006269.2(RP1):c.4492G>A (p.Val1498Ile) rs1806142118
NM_006269.2(RP1):c.4496A>G (p.Glu1499Gly) rs1311794892
NM_006269.2(RP1):c.44C>T (p.Thr15Met)
NM_006269.2(RP1):c.4533T>G (p.Ser1511Arg)
NM_006269.2(RP1):c.4534A>G (p.Lys1512Glu)
NM_006269.2(RP1):c.4544T>A (p.Met1515Lys)
NM_006269.2(RP1):c.4544T>C (p.Met1515Thr)
NM_006269.2(RP1):c.4577A>G (p.Glu1526Gly)
NM_006269.2(RP1):c.457C>G (p.Pro153Ala)
NM_006269.2(RP1):c.4586G>C (p.Ser1529Thr)
NM_006269.2(RP1):c.4593G>T (p.Arg1531Ser)
NM_006269.2(RP1):c.4594C>G (p.Leu1532Val)
NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser) rs767248972
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
NM_006269.2(RP1):c.4633A>C (p.Lys1545Gln) rs767994258
NM_006269.2(RP1):c.4655C>T (p.Thr1552Ile)
NM_006269.2(RP1):c.465C>G (p.Ser155Arg) rs1805870273
NM_006269.2(RP1):c.4670C>T (p.Thr1557Ile)
NM_006269.2(RP1):c.4680_4691del (p.Met1562_Lys1565del)
NM_006269.2(RP1):c.4681A>C (p.Lys1561Gln)
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys) rs774074476
NM_006269.2(RP1):c.4686G>A (p.Met1562Ile)
NM_006269.2(RP1):c.4687A>T (p.Met1563Leu)
NM_006269.2(RP1):c.4698T>G (p.Thr1566=)
NM_006269.2(RP1):c.4701G>A (p.Met1567Ile) rs1358764700
NM_006269.2(RP1):c.4705A>T (p.Thr1569Ser)
NM_006269.2(RP1):c.4706C>G (p.Thr1569Ser)
NM_006269.2(RP1):c.470T>A (p.Val157Glu) rs771020312
NM_006269.2(RP1):c.470T>C (p.Val157Ala)
NM_006269.2(RP1):c.4742A>G (p.Lys1581Arg) rs766323335
NM_006269.2(RP1):c.4748T>A (p.Ile1583Asn)
NM_006269.2(RP1):c.4751A>G (p.Lys1584Arg)
NM_006269.2(RP1):c.4755T>G (p.Ser1585Arg)
NM_006269.2(RP1):c.4766C>A (p.Ser1589Tyr) rs199756880
NM_006269.2(RP1):c.4766C>T (p.Ser1589Phe) rs199756880
NM_006269.2(RP1):c.477C>A (p.Phe159Leu) rs1805871215
NM_006269.2(RP1):c.4789G>A (p.Asp1597Asn) rs2129317830
NM_006269.2(RP1):c.478A>T (p.Arg160Trp)
NM_006269.2(RP1):c.4791CAGTGA[1] (p.1597DS[1]) rs1306684551
NM_006269.2(RP1):c.4793G>A (p.Ser1598Asn) rs1806154422
NM_006269.2(RP1):c.4802A>G (p.Glu1601Gly)
NM_006269.2(RP1):c.4804C>G (p.Gln1602Glu) rs1359338583
NM_006269.2(RP1):c.4813A>G (p.Lys1605Glu)
NM_006269.2(RP1):c.4831C>T (p.Pro1611Ser)
NM_006269.2(RP1):c.4846G>A (p.Glu1616Lys) rs868089931
NM_006269.2(RP1):c.4873A>T (p.Ile1625Leu)
NM_006269.2(RP1):c.487G>T (p.Asp163Tyr) rs370436803
NM_006269.2(RP1):c.490C>G (p.Pro164Ala)
NM_006269.2(RP1):c.491C>G (p.Pro164Arg) rs148346976
NM_006269.2(RP1):c.495G>T (p.Lys165Asn) rs1186642498
NM_006269.2(RP1):c.506C>A (p.Ala169Glu) rs747000732
NM_006269.2(RP1):c.515T>C (p.Leu172Pro)
NM_006269.2(RP1):c.518G>T (p.Ser173Ile)
NM_006269.2(RP1):c.529A>G (p.Thr177Ala) rs1805874590
NM_006269.2(RP1):c.542A>G (p.Glu181Gly)
NM_006269.2(RP1):c.557A>C (p.His186Pro)
NM_006269.2(RP1):c.55G>A (p.Gly19Ser)
NM_006269.2(RP1):c.570C>A (p.Val190=)
NM_006269.2(RP1):c.574C>A (p.Gln192Lys)
NM_006269.2(RP1):c.578G>C (p.Arg193Pro) rs754949406
NM_006269.2(RP1):c.584T>C (p.Val195Ala)
NM_006269.2(RP1):c.593T>C (p.Leu198Pro)
NM_006269.2(RP1):c.6095T>A (p.Phe2032Tyr) rs1806205897
NM_006269.2(RP1):c.6098G>T (p.Cys2033Phe) rs61739567
NM_006269.2(RP1):c.6101T>C (p.Met2034Thr) rs1806206218
NM_006269.2(RP1):c.6112C>A (p.His2038Asn)
NM_006269.2(RP1):c.6114C>G (p.His2038Gln)
NM_006269.2(RP1):c.6119C>A (p.Ser2040Ter) rs1563333726
NM_006269.2(RP1):c.6125T>C (p.Leu2042Ser) rs1806207230
NM_006269.2(RP1):c.6149A>G (p.Asn2050Ser) rs1255944226
NM_006269.2(RP1):c.615+3G>T rs199632605
NM_006269.2(RP1):c.6164G>C (p.Ser2055Thr)
NM_006269.2(RP1):c.6166G>A (p.Gly2056Ser)
NM_006269.2(RP1):c.616G>A (p.Val206Ile)
NM_006269.2(RP1):c.6173C>T (p.Thr2058Ile) rs2129318587
NM_006269.2(RP1):c.6182T>C (p.Ile2061Thr)
NM_006269.2(RP1):c.6190G>T (p.Ala2064Ser)
NM_006269.2(RP1):c.6197A>G (p.Asp2066Gly)
NM_006269.2(RP1):c.6198_6200del (p.Asp2066del) rs1806210601
NM_006269.2(RP1):c.6255A>T (p.Gln2085His) rs886062995
NM_006269.2(RP1):c.6275A>G (p.Asn2092Ser)
NM_006269.2(RP1):c.6278_6279delinsTC (p.Cys2093Phe)
NM_006269.2(RP1):c.6295A>G (p.Met2099Val)
NM_006269.2(RP1):c.6298C>T (p.Leu2100Phe) rs763216053
NM_006269.2(RP1):c.629A>G (p.Gln210Arg)
NM_006269.2(RP1):c.6302G>A (p.Gly2101Asp)
NM_006269.2(RP1):c.6302G>T (p.Gly2101Val)
NM_006269.2(RP1):c.6304C>A (p.Gln2102Lys)
NM_006269.2(RP1):c.6307G>T (p.Ala2103Ser)
NM_006269.2(RP1):c.6313C>G (p.Leu2105Val) rs1806215456
NM_006269.2(RP1):c.6327C>A (p.Cys2109Ter) rs1371811798
NM_006269.2(RP1):c.6330A>G (p.Gln2110=)
NM_006269.2(RP1):c.6338CCT[1] (p.Ser2114del) rs749093680
NM_006269.2(RP1):c.6349A>G (p.Ile2117Val) rs1806216538
NM_006269.2(RP1):c.6359G>T (p.Arg2120Ile)
NM_006269.2(RP1):c.6362A>G (p.Asn2121Ser) rs2129318678
NM_006269.2(RP1):c.6373C>T (p.Leu2125Phe) rs2129318689
NM_006269.2(RP1):c.6377G>A (p.Cys2126Tyr) rs1064797346
NM_006269.2(RP1):c.6377G>T (p.Cys2126Phe)
NM_006269.2(RP1):c.6379A>C (p.Met2127Leu)
NM_006269.2(RP1):c.6379_6380dup (p.Met2127fs) rs2129318694
NM_006269.2(RP1):c.6385G>C (p.Glu2129Gln)
NM_006269.2(RP1):c.6389G>C (p.Gly2130Ala)
NM_006269.2(RP1):c.6407G>T (p.Trp2136Leu) rs1806218567
NM_006269.2(RP1):c.6412G>T (p.Glu2138Ter)
NM_006269.2(RP1):c.6421A>C (p.Ile2141Leu)
NM_006269.2(RP1):c.6421A>G (p.Ile2141Val) rs907744519
NM_006269.2(RP1):c.6423dup (p.Leu2142fs) rs1563333973
NM_006269.2(RP1):c.6428del (p.Asn2143fs)
NM_006269.2(RP1):c.6432_6439del (p.Leu2144fs) rs1806219478
NM_006269.2(RP1):c.6461A>G (p.Glu2154Gly) rs973168352
NM_006269.2(RP1):c.6464A>T (p.Asp2155Val)
NM_006269.2(RP1):c.649G>A (p.Gly217Arg) rs1339553429
NM_006269.2(RP1):c.659T>G (p.Val220Gly) rs2129314757
NM_006269.2(RP1):c.664G>A (p.Ala222Thr)
NM_006269.2(RP1):c.67C>T (p.Pro23Ser)
NM_006269.2(RP1):c.683A>T (p.Lys228Ile) rs1805901267
NM_006269.2(RP1):c.704A>G (p.Gln235Arg)
NM_006269.2(RP1):c.719C>T (p.Pro240Leu)
NM_006269.2(RP1):c.71C>G (p.Pro24Arg) rs2129314077
NM_006269.2(RP1):c.71C>T (p.Pro24Leu)
NM_006269.2(RP1):c.731C>G (p.Pro244Arg)
NM_006269.2(RP1):c.736A>T (p.Ile246Phe) rs550073225
NM_006269.2(RP1):c.740C>T (p.Ser247Phe) rs2129314793
NM_006269.2(RP1):c.746G>A (p.Arg249His)
NM_006269.2(RP1):c.746G>C (p.Arg249Pro) rs373574136
NM_006269.2(RP1):c.746G>T (p.Arg249Leu) rs373574136
NM_006269.2(RP1):c.758A>C (p.Lys253Thr)
NM_006269.2(RP1):c.761G>T (p.Gly254Val)
NM_006269.2(RP1):c.786G>A (p.Lys262=) rs113763758
NM_006269.2(RP1):c.787+4A>C
NM_006269.2(RP1):c.787+5G>A
NM_006269.2(RP1):c.788-1G>A
NM_006269.2(RP1):c.788-2_790del rs779627969
NM_006269.2(RP1):c.830C>G (p.Ser277Cys) rs267601949
NM_006269.2(RP1):c.830C>T (p.Ser277Phe) rs267601949
NM_006269.2(RP1):c.836C>T (p.Ser279Phe) rs375744003
NM_006269.2(RP1):c.864C>G (p.Cys288Trp) rs1805980371
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
NM_006269.2(RP1):c.872A>G (p.Asp291Gly)
NM_006269.2(RP1):c.883G>A (p.Val295Ile) rs1321792993
NM_006269.2(RP1):c.886C>G (p.Pro296Ala)
NM_006269.2(RP1):c.951T>A (p.Asp317Glu) rs1805982801
NM_006269.2(RP1):c.961_963del (p.Lys321del) rs2129315881
NM_006269.2(RP1):c.968T>C (p.Ile323Thr)
NM_006269.2(RP1):c.970A>G (p.Ile324Val)
NM_006269.2(RP1):c.981A>G (p.Gln327=) rs1442014451
NM_006269.2(RP1):c.986G>T (p.Gly329Val) rs1229278794

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